### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDH23) # 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}}" "CDH23" "cadherin-related 23" "10" "q22.1" "unknown" "NG_008835.1" "UD_130774228228" "{PMID:Roux 2011:21436283}" "https://www.LOVD.nl/CDH23" "KMeyeDB \r\nUSMA (Usher Syndrome Missense Analysis) \r\neafness Variation Database \r\nMoBiDiC " "1" "13733" "64072" "605516" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the CDH23 database using: www.LOVD.nl/CDH23
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/CDH23_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00002" "2010-03-01 00:00:00" "00110" "2018-07-20 14:19:42" "00000" "2025-05-05 21:14:00" ## 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}}" "00000016" "CDH23" "cadherin-related 23, transcript variant 1" "001" "NM_022124.5" "" "NP_071407.4" "" "" "" "-390" "10734" "10065" "73156691" "73575704" "00002" "2012-05-11 13:11:50" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01371" "HD" "Huntington disease (HD)" "AD" "143100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02115" "USH1" "Usher syndrome, type I (USH-1)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-11 13:56:28" "02116" "USH2A" "Usher syndrome,, type 2A (USH2A)" "AR" "276901" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02337" "USH1D" "Usher syndrome, type 1D (USH-1D)" "AR;DR" "601067" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02357" "DFNB12" "deafness, autosomal recessive, type 12 (DFNB-12)" "AR" "601386" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" "" "05414" "USH2" "Usher syndrome, type II (USH-2)" "" "" "" "" "" "00006" "2018-04-02 14:40:34" "00006" "2021-12-11 13:56:28" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" "05459" "USH3" "Usher syndrome, type III (USH-3)" "" "" "" "" "" "00006" "2018-07-12 10:56:37" "00006" "2021-12-11 13:56:28" "05981" "USH1" "Usher syndrome, type I" "" "276903" "" "" "" "00110" "2021-10-25 15:10:06" "00006" "2021-12-11 13:56:28" "06082" "PITA5" "{Pituitary adenoma 5, multiple types}" "AD" "617540" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{geneid}}" "{{diseaseid}}" "CDH23" "02115" "CDH23" "02337" "CDH23" "02357" "CDH23" "05400" "CDH23" "05415" "CDH23" "05458" "CDH23" "06082" ## Individuals ## Do not remove or alter this header ## ## Count = 866 "{{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}}" "00000007" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000033" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000067" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000068" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000075" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000078" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000079" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000080" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000081" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000102" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "" "" "" "" "" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00003000" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00059022" "" "" "" "2" "" "01496" "Hereditary Research Lab, Bethlehem Univ, unpublished data" "" "F" "yes" "Palestine" "" "0" "" "" "Arab" "" "00059133" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059159" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00060241" "" "" "" "9" "" "01542" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "3-generation family, 9 affecteds (4F, 5M), unaffected heterozygous carrier parents/sibs" "F;M" "no" "Israel" "" "0" "" "" "Algeria;Jewish" "" "00060242" "" "" "" "2" "" "01542" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents/sib" "F;M" "yes" "Israel" "" "0" "" "" "Algeria;Jewish" "" "00080023" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080027" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080037" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00081084" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "" "00081324" "" "" "" "1" "" "01779" "" "" "F" "no" "Korea, South (Republic)" "" "0" "" "" "Korean" "" "00081326" "" "" "" "1" "" "01779" "{PMID:Kim 2015:26264712}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Korea" "" "0" "" "" "" "" "00081400" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081401" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00144156" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00165702" "" "" "" "1" "" "02417" "{PMID:Aparisi 2014:25404053}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00165703" "" "" "" "1" "" "02417" "{PMID:Aparisi 2014:25404053}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00165704" "" "" "" "1" "" "02416" "" "Proband" "M" "" "France" "" "0" "" "" "" "" "00165705" "" "" "" "1" "" "02416" "{PMID:Bolz 2001:11138009}" "Proband" "M" "" "Cuba" "" "0" "" "" "" "" "00165706" "" "" "" "1" "" "02416" "{PMID:Bolz 2001:11138009}" "Relative" "M" "" "Cuba" "" "0" "" "" "" "" "00165707" "" "" "" "1" "" "02416" "{PMID:Bolz 2001:11138009}" "Proband" "M" "" "Cuba" "" "0" "" "" "" "" "00165708" "" "" "" "1" "" "02416" "{PMID:Bolz 2001:11138009}" "Relative" "F" "" "Cuba" "" "0" "" "" "" "" "00165709" "" "" "" "1" "" "02416" "{PMID:Bolz 2001:11138009}" "Proband" "M" "" "Cuba" "" "0" "" "" "" "" "00165710" "" "" "" "1" "" "02416" "{PMID:Bolz 2001:11138009}" "Relative" "M" "" "Cuba" "" "0" "" "" "" "" "00165711" "" "" "" "1" "" "02416" "{PMID:Bolz 2001:11138009}" "Relative" "F" "" "Cuba" "" "0" "" "" "" "" "00165712" "" "" "" "1" "" "02416" "{PMID:Bolz 2001:11138009}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00165713" "" "" "" "1" "" "02416" "{PMID:von Brederlow 2002:11857743}" "Proband" "M" "" "" "" "0" "" "" "" "" "00165714" "" "" "" "1" "" "02416" "{PMID:von Brederlow 2002:11857743}" "Relative" "M" "" "" "" "0" "" "" "" "" "00165715" "" "" "" "1" "" "02416" "{PMID:von Brederlow 2002:11857743}" "Relative" "M" "" "" "" "0" "" "" "" "" "00165716" "" "" "" "1" "" "02416" "{PMID:von Brederlow 2002:11857743}" "Proband" "M" "" "" "" "0" "" "" "" "" "00165717" "" "" "" "1" "" "02416" "{PMID:von Brederlow 2002:11857743}" "Relative" "M" "" "" "" "0" "" "" "" "" "00165718" "" "" "" "1" "" "02416" "{PMID:von Brederlow 2002:11857743}" "Proband" "F" "" "" "" "0" "" "" "" "" "00165719" "" "" "" "1" "" "02416" "{PMID:von Brederlow 2002:11857743}" "Proband" "F" "" "" "" "0" "" "" "" "" "00165720" "" "" "" "1" "" "02416" "{PMID:von Brederlow 2002:11857743}" "Proband" "" "" "" "" "0" "" "" "" "" "00165721" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165722" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165723" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165724" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00165725" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00165726" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00165727" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Relative" "F" "" "France" "" "0" "" "" "" "" "00165728" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00165729" "" "" "" "1" "" "02416" "{PMID:Baux 2008:18484607}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00165730" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00165731" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00165732" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00165733" "" "" "" "1" "" "02416" "{PMID:Baux 2008:18484607}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00165734" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00165735" "" "" "" "1" "" "02416" "{PMID:Baux 2008:18484607}" "Proband" "F" "" "Guinea" "" "0" "" "" "" "" "00165736" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00165737" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00165738" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165739" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165740" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165741" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165742" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165743" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165744" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165745" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165746" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165747" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165748" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165749" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165750" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165751" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband - Minigene and Nasal cell studies in Aparisi et al., 2013" "" "" "Spain" "" "0" "" "" "" "" "00165752" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165753" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165754" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165755" "" "" "" "1" "" "02416" "{PMID:Oshima 2008:18429043}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165756" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband - referenced as patient #2806 in Miyagawa et al., 2012" "F" "" "Japan" "" "0" "" "" "" "" "00165757" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband - referenced as patient #2714 in Miyagawa et al., 2012" "M" "" "Japan" "" "0" "" "" "" "" "00165758" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband - referenced as patient #2886 in Miyagawa et al., 2012" "M" "" "Japan" "" "0" "" "" "" "" "00165759" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Relative - referenced as patient #2885 in Miyagawa et al., 2012" "M" "" "Japan" "" "0" "" "" "" "" "00165760" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband - referenced as patient #2826 in Miyagawa et al., 2012" "M" "" "Japan" "" "0" "" "" "" "" "00165761" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband - referenced as patient #2618 in Miyagawa et al., 2012" "F" "" "Japan" "" "0" "" "" "" "" "00165762" "" "" "" "1" "" "02416" "{PMID:de Brouwer 2003:12522556}" "Proband" "M" "" "" "" "0" "" "" "" "" "00165763" "" "" "" "1" "" "02416" "{PMID:de Brouwer 2003:12522556}" "Relative" "M" "" "" "" "0" "" "" "" "" "00165764" "" "" "" "1" "" "02416" "{PMID:de Brouwer 2003:12522556}" "Proband" "F" "" "" "" "0" "" "" "" "" "00165765" "" "" "" "1" "" "02416" "{PMID:de Brouwer 2003:12522556}" "Relative" "F" "" "" "" "0" "" "" "" "" "00165766" "" "" "" "1" "" "02416" "{PMID:Pennings 2006:16652077}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "" "00165767" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15353998}" "Proband" "F" "" "Netherlands" "" "0" "" "" "" "" "00165768" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15353998}" "Relative" "M" "" "Netherlands" "" "0" "" "" "" "" "00165769" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15353998}" "Relative" "F" "" "Netherlands" "" "0" "" "" "" "" "00165770" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15353998}" "Proband" "M" "" "Netherlands" "" "0" "" "" "" "" "00165771" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15353998}" "Proband" "M" "" "Netherlands" "" "0" "" "" "" "" "00165772" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15353998}" "Relative" "F" "" "Netherlands" "" "0" "" "" "" "" "00165773" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15353998}" "Proband" "M" "" "Netherlands" "" "0" "" "" "" "" "00165774" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15353998}" "Proband" "F" "" "Netherlands" "" "0" "" "" "" "" "00165775" "" "" "" "1" "" "02416" "{PMID:Pennings 2004:15353998}" "Relative" "F" "" "Netherlands" "" "0" "" "" "" "" "00165776" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165777" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165778" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165779" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165780" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "F" "" "Spain" "" "0" "" "" "" "" "00165781" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165782" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "F" "" "Spain" "" "0" "" "" "" "" "00165783" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00165784" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00165785" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165786" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "F" "" "Spain" "" "0" "" "" "" "" "00165787" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Relative" "F" "" "Spain" "" "0" "" "" "" "" "00165788" "" "" "" "1" "" "02417" "{PMID:Jaijo 2010:19683999}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165789" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00165790" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00165791" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00165792" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00165793" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00165794" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00165795" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00165796" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00165797" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00165798" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00165799" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00165800" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00165801" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00165802" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00165803" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00165804" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00165805" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00165806" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00165807" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00165808" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00165809" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00165810" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00165811" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00165812" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00165813" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00165814" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00165815" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00165816" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00165817" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00165818" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00165819" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00165820" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00165821" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00165822" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00165823" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00165824" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00165825" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00165826" "" "" "" "1" "" "02416" "{PMID:Bork 2001:11090341}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00165827" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "" "00165828" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "European" "" "00165829" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "Jewish-Sephardic" "" "00165830" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "" "" "0" "" "" "Jewish-Sephardic" "" "00165831" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "" "" "00165832" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "" "00165833" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Netherlands" "" "0" "" "" "" "" "00165834" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "" "00165835" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Netherlands" "" "0" "" "" "" "" "00165836" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165837" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Spain" "" "0" "" "" "" "" "00165838" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "European" "" "00165839" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "" "" "0" "" "" "European" "" "00165840" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165841" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Sweden" "" "0" "" "" "" "" "00165842" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165843" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Sweden" "" "0" "" "" "" "" "00165844" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Netherlands" "" "0" "" "" "" "" "00165845" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Netherlands" "" "0" "" "" "" "" "00165846" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165847" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Sweden" "" "0" "" "" "" "" "00165848" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165849" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165850" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165851" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Sweden" "" "0" "" "" "" "" "00165852" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165853" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165854" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165855" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165856" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Sweden" "" "0" "" "" "" "" "00165857" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165858" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Spain" "" "0" "" "" "" "" "00165859" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "" "" "00165860" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "European" "" "00165861" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "European" "" "00165862" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Germany" "" "0" "" "" "" "" "00165863" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "European" "" "00165864" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "" "" "0" "" "" "European" "" "00165865" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "European" "" "00165866" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "" "" "0" "" "" "European" "" "00165867" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "European" "" "00165868" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "" "" "0" "" "" "European" "" "00165869" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "" "" "00165870" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165871" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Mexico" "" "0" "" "" "" "" "00165872" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Germany" "" "0" "" "" "" "" "00165873" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "" "" "00165874" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00165875" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Spain" "" "0" "" "" "" "" "00165876" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "" "" "00165877" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "European" "" "00165878" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "European" "" "00165879" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Germany" "" "0" "" "" "" "" "00165880" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "European" "" "00165881" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "European" "" "00165882" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "" "" "0" "" "" "European" "" "00165883" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "" "" "0" "" "" "European" "" "00165884" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "" "" "0" "" "" "European" "" "00165885" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "M" "" "" "" "0" "" "" "European" "" "00165886" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Ireland" "" "0" "" "" "" "" "00165887" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Ireland" "" "0" "" "" "" "" "00165888" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165889" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00165890" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Relative" "" "" "Pakistan" "" "0" "" "" "" "" "00165891" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "" "00165892" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165893" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165894" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165895" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165896" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165897" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165898" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165899" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165900" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165901" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165902" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165903" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165904" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165905" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165906" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165907" "" "" "" "1" "" "02416" "{PMID:Zheng 2005:15537665}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00165908" "" "" "" "1" "" "02416" "{PMID:Zheng 2005:15537665}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00165909" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00165911" "" "" "" "1" "" "02416" "{PMID:Ammar-Khodja 2009:19375528}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "" "00165912" "" "" "" "1" "" "02416" "{PMID:Ammar-Khodja 2009:19375528}" "Relative" "M" "" "Algeria" "" "0" "" "" "" "" "00165915" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00165921" "" "" "" "1" "" "02416" "{PMID:Astuto 2002:12075507}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "" "00166247" "" "" "" "1" "" "02416" "{PMID:Zheng 2005:15537665}" "Proband" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166469" "" "" "" "1" "" "02416" "{PMID:Ammar-Khodja 2009:19375528}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "" "00166471" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00166472" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00166473" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "Italy" "" "0" "" "" "" "" "00166481" "" "" "" "1" "" "02416" "{PMID:Kimberling 2010:20613545}" "Proband - No ophtalmologic examination" "" "" "United States" "" "0" "" "" "" "" "00166482" "" "" "" "1" "" "02416" "{PMID:Kimberling 2010:20613545}" "Proband - No ophtalmologic examination" "" "" "United States" "" "0" "" "" "" "" "00166483" "" "" "" "1" "" "02416" "{PMID:Kimberling 2010:20613545}" "Proband - No ophtalmologic examination" "" "" "United States" "" "0" "" "" "" "" "00166484" "" "" "" "1" "" "02416" "{PMID:Kimberling 2010:20613545}" "Proband - No ophtalmologic examination" "" "" "United States" "" "0" "" "" "" "" "00166485" "" "" "" "1" "" "02416" "{PMID:Kimberling 2010:20613545}" "Proband - No ophtalmologic examination" "" "" "United States" "" "0" "" "" "" "" "00166486" "" "" "" "1" "" "02416" "{PMID:Kimberling 2010:20613545}" "Proband - No ophtalmologic examination" "" "" "United States" "" "0" "" "" "" "" "00166487" "" "" "" "1" "" "02416" "{PMID:Nakanishi 2010:20844544}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00166488" "" "" "" "1" "" "02416" "{PMID:Nakanishi 2010:20844544}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00166489" "" "" "" "1" "" "02417" "{PMID:Aparisi 2013:23451239}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00166499" "" "" "" "1" "" "02416" "{PMID:Malm 2010:21174530}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00166500" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Proband" "" "" "Turkey" "" "0" "" "" "" "" "00166501" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "" "00166502" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "" "00166503" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "" "00166504" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "" "00166505" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "" "00166506" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Proband" "" "" "Turkey" "" "0" "" "" "" "" "00166507" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "" "00166508" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "" "00166509" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Relative" "" "" "Turkey" "" "0" "" "" "" "" "00166516" "" "" "" "1" "" "02419" "{PMID:Saihan 2011:21487335}" "Proband" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166518" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166521" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166523" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "" "00166524" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "" "00166527" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "" "00166532" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "" "00166564" "" "" "" "1" "" "02416" "{PMID:Vozzi 2011:21738395}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00166565" "" "" "" "1" "" "02416" "{PMID:Vozzi 2011:21738395}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00166567" "" "" "" "1" "" "02416" "{PMID:Vozzi 2011:21738395}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00166568" "" "" "" "1" "" "02416" "{PMID:Vozzi 2011:21738395}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00166591" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166593" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166598" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166600" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166602" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166604" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166607" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166611" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166612" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166613" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166614" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166616" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166618" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166619" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166620" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166626" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166627" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166628" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166630" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166631" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166632" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166633" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166634" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166635" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166636" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166639" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166640" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166641" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166642" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166645" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166647" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166648" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166649" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166650" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166651" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166652" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166653" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166654" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166656" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166657" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166658" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166659" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166664" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166666" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166668" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166672" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166673" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166674" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166675" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166676" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166678" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166682" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166684" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166685" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166686" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166687" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166692" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166696" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166697" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166698" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166699" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166700" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166701" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166702" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166703" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166707" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166709" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166710" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166712" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166714" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166715" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166716" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166720" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166723" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166726" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166730" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166733" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166735" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166736" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166737" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166742" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166744" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166745" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166747" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166748" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166750" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166753" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166755" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166758" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166769" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166770" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166771" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166772" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166773" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166774" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166775" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166776" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166777" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166778" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166779" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166780" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166781" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166782" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166783" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166784" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166785" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166786" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166787" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166788" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166789" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166790" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166791" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166792" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166793" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166794" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166795" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166796" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166797" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166798" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166799" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166800" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166801" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166802" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166803" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166804" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166805" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166806" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166807" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166808" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166809" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166810" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166811" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166812" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166813" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166814" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166815" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166816" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166817" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166818" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166819" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166820" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166821" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166822" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166823" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166824" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166825" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166826" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166827" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166828" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166829" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166830" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166831" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166832" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166833" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166834" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166835" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166836" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166837" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166838" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband - sibship 1" "M" "" "India" "" "0" "" "" "" "" "00166839" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative - sibship 1" "M" "" "India" "" "0" "" "" "" "" "00166840" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative - sibship 1" "F" "" "India" "" "0" "" "" "" "" "00166841" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative - sibship 1" "M" "" "India" "" "0" "" "" "" "" "00166842" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166843" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166844" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166845" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166846" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166847" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166848" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166849" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166850" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166851" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166852" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166853" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166854" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166855" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166856" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166857" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166858" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166859" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166860" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166861" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166862" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166863" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166864" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166865" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband - sibship 1" "F" "" "Pakistan" "" "0" "" "" "" "" "00166866" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative - sibship 1" "M" "" "Pakistan" "" "0" "" "" "" "" "00166867" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00166868" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband - father" "M" "" "United States" "" "0" "" "" "" "" "00166869" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband - daughter 2" "F" "" "United States" "" "0" "" "" "" "" "00166870" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband - mother" "F" "" "United States" "" "0" "" "" "" "" "00166871" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband - daughter 1" "F" "" "United States" "" "0" "" "" "" "" "00166872" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00166873" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative - intrafamilial phenotypic variability" "M" "" "United States" "" "0" "" "" "" "" "00166874" "" "" "" "1" "" "02416" "{PMID:Schultz 2005:15829536}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00166875" "" "" "" "1" "" "02416" "{PMID:Schultz 2005:15829536}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166876" "" "" "" "1" "" "02416" "{PMID:Schultz 2005:15829536}" "Relative" "F" "" "United States" "" "0" "" "" "" "" "00166877" "" "" "" "1" "" "02416" "{PMID:Schultz 2005:15829536}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166878" "" "" "" "1" "" "02416" "{PMID:Schultz 2005:15829536}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166879" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00166880" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00166881" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband - sibship 2" "M" "" "India" "" "0" "" "" "" "" "00166882" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Relative - sibship 2" "F" "" "India" "" "0" "" "" "" "" "00166883" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00166884" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00166900" "" "" "" "1" "" "02416" "{PMID:Neveling 2012:22334370}" "Proband" "M" "" "" "" "0" "" "" "" "" "00167037" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Proband" "F" "" "Israel" "" "0" "" "" "" "" "00167038" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Relative" "M" "" "Israel" "" "0" "" "" "" "" "00167039" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Relative" "M" "" "Israel" "" "0" "" "" "" "" "00167040" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "" "F" "" "Israel" "" "0" "" "" "" "" "00167041" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Relative" "M" "" "Israel" "" "0" "" "" "" "" "00167042" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Relative" "F" "" "Israel" "" "0" "" "" "" "" "00167043" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Relative" "M" "" "Israel" "" "0" "" "" "" "" "00167044" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Relative" "M" "" "Israel" "" "0" "" "" "" "" "00167045" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Relative" "F" "" "Israel" "" "0" "" "" "" "" "00167046" "" "" "" "1" "" "02416" "{PMID:De Keulenaer 2012:22607986}" "Proband" "" "" "Iran" "" "0" "" "" "" "" "00167047" "" "" "" "1" "" "02416" "{PMID:De Keulenaer 2012:22607986}" "Relative" "" "" "Iran" "" "0" "" "" "" "" "00167055" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "" "" "0" "" "" "" "" "00167074" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167075" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167076" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Relative" "M" "" "Japan" "" "0" "" "" "" "" "00167077" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Relative" "M" "" "Japan" "" "0" "" "" "" "" "00167078" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167079" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167080" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167081" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167082" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167083" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167084" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband - referenced as patient #2649 in Miyagawa et al., 2012" "" "" "Japan" "" "0" "" "" "" "" "00167085" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband - referenced as patient #280 in Miyagawa et al., 2012" "" "" "Japan" "" "0" "" "" "" "" "00167086" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167087" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167088" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167089" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167090" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167091" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167092" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167093" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167094" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167095" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167096" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167097" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167098" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167099" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167100" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167101" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167102" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167103" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167104" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167105" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Relative" "F" "" "Japan" "" "0" "" "" "" "" "00167106" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167107" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167108" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167109" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167110" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167111" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167112" "" "" "" "1" "" "02416" "{PMID:Miyagawa 2012:22899989}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167124" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167132" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167133" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167134" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167135" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167143" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "" "" "0" "" "" "" "" "00167144" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167145" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167148" "" "" "" "1" "" "02416" "{PMID:Glöcke 2013:23591405}" "Proband" "" "" "" "" "0" "" "" "" "" "00167149" "" "" "" "1" "" "02416" "{PMID:Glöcke 2013:23591405}" "Proband" "" "" "" "" "0" "" "" "" "" "00167152" "" "" "" "1" "" "02416" "{PMID:Glöcke 2013:23591405}" "Proband" "" "" "" "" "0" "" "" "" "" "00167163" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167164" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167236" "" "" "" "1" "" "00143" "{PMID:Krawitz 2014:25333064}" "Proband" "F" "" "Germany" "" "0" "" "" "" "" "00167269" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00167270" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "F" "" "India" "" "0" "" "" "" "" "00167271" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00167272" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00167273" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "F" "" "India" "" "0" "" "" "" "" "00167274" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00167275" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "F" "" "India" "" "0" "" "" "" "" "00167276" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00167277" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00167278" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00167279" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "" "" "India" "" "0" "" "" "" "" "00167280" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "" "" "India" "" "0" "" "" "" "" "00167281" "" "" "" "1" "" "02416" "{PMID:Mutai 2013:24164807}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167282" "" "" "" "1" "" "02416" "{PMID:Mutai 2013:24164807}" "Relative" "F" "" "Japan" "" "0" "" "" "" "" "00167283" "" "" "" "1" "" "02416" "{PMID:Mutai 2013:24164807}" "Relative" "F" "" "Japan" "" "0" "" "" "" "" "00167284" "" "" "" "1" "" "02416" "{PMID:Eisenberger 2013:24265693}" "Proband - carries c.597C>A - p.(Tyr199*) and c.3157delT - p.(Tyr1053Thrfs*4) in RP1 which explains the phenotype" "M" "" "Germany" "" "0" "" "" "" "" "00167296" "" "" "" "1" "" "02416" "{PMID:Wagatsuma 2007:17850630}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167297" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167298" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167299" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167300" "" "" "" "1" "" "02416" "{PMID:Yoshimura 2014:24618850}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167441" "" "" "" "1" "" "02416" "{PMID:Rong 2014:24831256}" "Proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication." "M" "" "China" "" "0" "" "" "" "" "00167442" "" "" "" "1" "" "02416" "{PMID:Rong 2014:24831256}" "Proband" "F" "" "China" "" "0" "" "" "" "" "00167443" "" "" "" "1" "" "02416" "{PMID:Rong 2014:24831256}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167447" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Proband" "M" "" "Lebanon" "" "0" "" "" "" "" "00167627" "" "" "" "1" "" "00764" "{PMID:Reddy 2014:25211151}" "Relative" "F" "" "Lebanon" "" "0" "" "" "" "" "00167636" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Proband" "F" "" "Palestine" "" "0" "" "" "" "" "00167637" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Relative" "M" "" "Palestine" "" "0" "" "" "" "" "00167638" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Relative" "" "" "Palestine" "" "0" "" "" "" "" "00167639" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Relative" "M" "" "Palestine" "" "0" "" "" "" "" "00167640" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Relative" "F" "" "Palestine" "" "0" "" "" "" "" "00167641" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Proband" "M" "" "Palestine" "" "0" "" "" "" "" "00167642" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Relative" "F" "" "Palestine" "" "0" "" "" "" "" "00167643" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Relative" "M" "" "Palestine" "" "0" "" "" "" "" "00167644" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Relative" "F" "" "Palestine" "" "0" "" "" "" "" "00167645" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Proband" "F" "" "Palestine" "" "0" "" "" "" "" "00167646" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Relative" "M" "" "Palestine" "" "0" "" "" "" "" "00167647" "" "" "" "1" "" "02416" "{PMID:Shahin 2014:19888295}" "Relative" "M" "" "Palestine" "" "0" "" "" "" "" "00167649" "" "" "" "1" "" "02416" "{PMID:Schultz 2011:21940737}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167650" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167652" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167655" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167666" "" "" "" "1" "" "02416" "{PMID:Licastro 2012:22952768}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167667" "" "" "" "1" "" "02416" "{PMID:Licastro 2012:22952768}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167668" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00167670" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Relative" "F" "" "United States" "" "0" "" "" "" "" "00167671" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00167672" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167673" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167674" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167675" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167676" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00167677" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167678" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167679" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167680" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167681" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167682" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167683" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167694" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167696" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "F" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167697" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "M" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167698" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "F" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167699" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Relative - sibling of JP0097-0702-0089" "M" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167700" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "M" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167701" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Relative - sibling of JP0103-0817-0031" "M" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167702" "" "" "" "1" "" "02416" "{PMID:Lenarduzzi 2015:25575603}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167704" "" "" "" "1" "" "02416" "{PMID:Lenarduzzi 2015:25575603}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167705" "" "" "" "1" "" "02416" "{PMID:Lenarduzzi 2015:25575603}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167707" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "proband" "M" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167708" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "M" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167709" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "F" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167710" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "M" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167711" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "F" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167712" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "M" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167713" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "M" "" "Japan" "" "0" "" "" "Asia" "" "00167714" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "M" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167715" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "M" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167716" "" "" "" "1" "" "02425" "{PMID:Mizutari 2015:25963016}" "Proband" "F" "" "Japan" "" "0" "" "" "Asian-Japanese" "" "00167717" "" "" "" "1" "" "02416" "{PMID:Woo 2014:24767429}" "Proband" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00167718" "" "" "" "1" "" "02416" "{PMID:Woo 2014:24767429}" "Relative" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00167719" "" "" "" "1" "" "02416" "{PMID:Woo 2014:24767429}" "Proband" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00167720" "" "" "" "1" "" "02416" "{PMID:Woo 2014:24767429}" "Proband" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00167721" "" "" "" "1" "" "02416" "{PMID:Woo 2014:24767429}" "Proband" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00167722" "" "" "" "1" "" "02416" "{PMID:Woo 2014:24767429}" "Proband" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00167723" "" "" "" "1" "" "02416" "{PMID:Woo 2014:24767429}" "Proband" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00167724" "" "" "" "1" "" "02416" "{PMID:Woo 2014:24767429}" "Proband" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00167786" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167787" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "" "00167788" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "" "00167789" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "" "00167790" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167791" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167792" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00167793" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167794" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167795" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167796" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167797" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167798" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167799" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167800" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167801" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167802" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00167803" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "" "00167804" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "" "00167805" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Spain" "" "0" "" "" "" "" "00167806" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167854" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "M" "" "Algeria" "" "0" "" "" "" "" "00167855" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "" "00167856" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "" "00167857" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "M" "" "Algeria" "" "0" "" "" "" "" "00167858" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "M" "" "Algeria" "" "0" "" "" "" "" "00167859" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "Algeria" "" "0" "" "" "" "" "00168026" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "F" "" "France" "" "0" "" "" "" "S1628" "00168027" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "M" "" "France" "" "0" "" "" "" "S1701" "00168028" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "F" "" "France" "" "0" "" "" "" "S1761" "00168035" "" "" "" "1" "" "02430" "{PMID:Ivanova 2018:30358468}" "Proband" "F" "" "Russian Federation" "" "0" "" "" "Slavonian" "Pat26" "00181507" "" "" "" "1" "" "00006" "{PMID:Kim 2015:26264712}" "4-generation family, 1 affected, unaffected parents" "F" "" "Korea" "" "0" "" "" "" "26264712-FamSH59-133" "00181508" "" "" "" "1" "" "00006" "{PMID:Kim 2015:26264712}" "3-generation family, 1 affected, unaffected parents" "F" "" "Korea" "" "0" "" "" "" "26264712-FamSH97-211" "00181509" "" "" "" "1" "" "00006" "{PMID:Kim 2015:26264712}" "3-generation family, 1 affected, unaffected parents" "F" "" "Korea" "" "0" "" "" "" "26264712-FamSH164-359" "00207591" "" "" "" "4" "" "01244" "" "" "F" "" "" "" "0" "" "" "" "" "00218098" "" "" "" "1" "" "02476" "" "" "F" "no" "(Argentina)" "" "0" "" "" "" "" "00290105" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290106" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290107" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290108" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290109" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290110" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290111" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290112" "" "" "" "37" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290113" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290114" "" "" "" "55" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290115" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290116" "" "" "" "187" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290117" "" "" "" "155" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290118" "" "" "" "200" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290119" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290120" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290121" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290122" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290123" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290124" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290125" "" "" "" "169" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290126" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290127" "" "" "" "118" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290128" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290129" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290130" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290131" "" "" "" "42" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290132" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299640" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "3-generation family, 1 affeted, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamGC18203Pat1" "00304256" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304257" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304258" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304259" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304260" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304261" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304262" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306910" "" "" "" "1" "" "03388" "" "" "M" "yes" "Iran" "" "" "" "" "Persian" "CDH23-M1" "00308491" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308605" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" "" "00308785" "" "" "" "2" "" "00004" "{PMID:Santana 2019:31231422}" "3-generation family, 2 affected 2M), unaffected parents" "" "" "Cuba" "" "0" "" "" "white" "FamUS-4" "00308786" "" "" "" "1" "" "00004" "{PMID:Santana 2019:31231422}" "3-generation family, 2 affected (F), unaffected parents" "F" "" "Cuba" "" "0" "" "" "white" "FamUS-5" "00308787" "" "" "" "2" "" "00004" "{PMID:Santana 2019:31231422}" "2-generation family, 2 affected (F, M), unaffected parents" "" "yes" "Cuba" "" "0" "" "" "white" "FamUS-6" "00308788" "" "" "" "1" "" "00004" "{PMID:Santana 2019:31231422}" "2-generation family, 1 affected (F), unaffected parents" "F" "" "Cuba" "" "0" "" "" "white" "FamUS-7" "00308792" "" "" "" "1" "" "00004" "{PMID:Santana 2019:31231422}" "2-generation family, 1 affected (F), unaffected parents" "F" "" "Cuba" "" "0" "" "" "white" "FamUS-11" "00309016" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309559" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP957" "00309564" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1420" "00309580" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1857" "00309594" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP2011" "00309595" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP2019t" "00309607" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP681" "00314772" "" "" "" "2" "" "00006" "{DOI:Kannan-Sundhari 2020:32991204}" "5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "KF-3" "00314956" "" "" "" "4" "" "03829" "" "" "-" "yes" "Saudi Arabia" "" "" "" "" "" "NSHD4" "00327069" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327078" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327086" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327087" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327131" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327132" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327136" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327137" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327138" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327139" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327140" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327400" "" "" "" "1" "" "03980" "Doucette 2021, submitted" "single child to unaffected parents (father was unavailable for examination)" "M" "yes" "Canada" "" "0" "Yes" "" "Middle Eastern" "M73 II-1" "00331626" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "family" "" "no" "China" "" "0" "" "" "" "19691" "00331704" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "" "" "" "China" "" "0" "" "" "" "19349" "00331705" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "" "" "" "China" "" "0" "" "" "" "19360" "00332219" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB42" "00332225" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB40" "00332434" "" "" "" "1" "" "00000" "{PMID:Eandi 2017:29142287}" "" "F" "" "Italy" "" "0" "" "" "" "Fam6PatTO7" "00332441" "" "" "" "1" "" "00000" "{PMID:Eandi 2017:29142287}" "" "M" "" "Italy" "" "0" "" "" "" "Fam11PatTO14" "00333356" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat16" "00333358" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat8" "00333360" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat14" "00333366" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat11" "00334003" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "520" "00334004" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "521" "00334005" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "522" "00334006" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "523" "00335093" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "6561" "00335094" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "6738" "00335251" "" "" "" "1" "" "00000" "{PMID:Riera 2017:28181551}" "patient" "" "" "Spain" "" "0" "" "" "" "Fi15/36" "00335847" "" "" "" "2" "" "00000" "{PMID:Dad 2016:27957503}" "family, 2 affeted" "M" "yes" "Denmark" "" "0" "" "" "" "USH1-6" "00335848" "" "" "00335847" "1" "" "00000" "{PMID:Dad 2016:27957503}" "" "M" "no" "Denmark" "" "0" "" "" "" "USH1-6B" "00335849" "" "" "" "1" "" "00000" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "" "M" "yes" "Iraq" "" "0" "" "" "" "USH1-8" "00335857" "" "" "" "1" "" "00000" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "USH1-20" "00335858" "" "" "" "2" "" "00000" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "family, 2 affeted" "M" "yes" "Pakistan" "" "0" "" "" "" "USH1-21" "00335859" "" "" "00335858" "1" "" "00000" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "USH1-21A" "00335868" "" "" "" "1" "" "00000" "{PMID:Dad 2016:27957503}" "" "F" "no" "Sri Lanka" "" "0" "" "" "" "USH1-36" "00358946" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71134" "00358967" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71315" "00358968" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case29303" "00358975" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case30806" "00359270" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13000951" "00359376" "" "" "" "1" "" "00000" "{PMID:Bravo-Gil 2016:27032803}" "see paper" "" "" "Spain" "" "0" "" "" "" "118" "00361790" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "yes" "Iran" "" "0" "" "" "" "Pat41" "00363216" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Sri Lanka" "" "0" "" "" "" "Pat6" "00363217" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "Pat51" "00363218" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PatDEM127" "00363219" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Syria" "" "0" "" "" "" "Pat122" "00363220" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "no" "Italy" "" "0" "" "" "" "Pat12" "00363221" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PatDEM296" "00363230" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat103" "00368317" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32090030}" "Two additional variants were found in CDH23 (c.7145G>A p.R2382Q and c.9617G>A p.R3206H)" "M" "?" "China" "" "0" "" "" "China" "RP02-III:2" "00373525" "" "" "" "1" "" "00000" "{PMID:Zaneveld 2015:25474345}" "" "" "" "Canada" "" "0" "" "" "" "Pat70" "00373807" "" "" "" "1" "" "00000" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Spain" "" "0" "" "" "" "Pat4" "00373840" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "simplex case" "" "" "Northern Ireland" "" "0" "" "" "" "Rp78" "00373841" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "simplex case" "" "" "Northern Ireland" "" "0" "" "" "" "Rp112" "00373842" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "simplex case" "" "" "Northern Ireland" "" "0" "" "" "" "Rp399A" "00375266" "" "" "" "2" "" "02404" "{PMID:Bahena 2021:34148116}" "" "M" "?" "Iran" "" "0" "" "" "" "Pat59" "00375412" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#003" "00375413" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#005" "00375414" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#006" "00375418" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#010" "00375419" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#011" "00375422" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#015" "00375423" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#016" "00375432" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#027" "00375433" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#028" "00380215" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP92, II:2" "?" "no" "Spain" "" "0" "" "" "" "II:2" "00381608" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "" "" "00382245" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "74" "00382306" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "135" "00382506" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "368" "00382507" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "369" "00382508" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "370" "00382509" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "371" "00383788" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18088615_A" "00385393" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "M" "" "Taiwan" "" "0" "" "" "" "F3-II-1" "00386723" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2858_004443" "00386887" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI1547_002754" "00386918" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32090030}" "older sister of RP02-III:2" "F" "no" "" "" "0" "" "" "" "RP02-III:1" "00387249" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387303" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387305" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387673" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "72" "00388760" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 24, Usher syndrome type I, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "44" "00388770" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 32, Usher syndrome type I, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "54" "00388771" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 32, Usher syndrome type I, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "55" "00388782" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 33, Usher syndrome type I, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "66" "00388783" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 33, Usher syndrome type I, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "67" "00388901" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 70, Usher syndrome type I, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "185" "00389116" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 130, Usher syndrome type 2, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "400" "00389280" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 202, Usher syndrome type 2, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "564" "00389521" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 321, Usher syndrome type 2, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "805" "00390198" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005019" "00391493" "" "" "" "1" "" "00000" "{PMID:Zheng 2020:32835555}" "" "?" "" "China" "" "0" "" "" "" "II:2" "00394694" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394695" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394696" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394697" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394698" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00395596" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-2085" "00395963" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 21894, genetic ID: 33976" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P9" "00396220" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "M" "" "" "" "0" "" "" "Polish" "" "00396222" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "M" "" "" "" "0" "" "" "Polish" "" "00396230" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396231" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396259" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396260" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396284" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396285" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396286" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396287" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00402163" "" "" "" "1" "" "00000" "{PMID:Zhu 2021:32675063}" "family 249, patient 43763920" "F" "" "China" "" "0" "" "" "" "43763920" "00410960" "" "" "" "1" "" "00000" "{PMID:Okano 2019:30774966}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00410961" "" "" "" "1" "" "00000" "{PMID:Valero 2019:31546658}" "" "F" "" "" "" "0" "" "" "" "" "00410962" "" "" "" "1" "" "00000" "{PMID:Menghini 2019:31755791}" "" "F" "" "" "" "0" "" "" "Caucasian" "" "00410963" "" "" "" "1" "" "00000" "{PMID:Zhang 2020:32425987}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00410964" "" "" "" "1" "" "00000" "{PMID:Zhang 2020:32425987}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00428009" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A134" "00441151" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1767" "00441152" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF055" "00441153" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4556" "00441154" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4504" "00441155" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4324" "00441156" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4108" "00441157" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4363" "00441158" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "LUAB14" "00441159" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4112" "00441160" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1781" "00441161" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4544" "00441162" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4710" "00441163" "" "" "" "11" "" "00006" "{PMID:Richard 2019: 30303587}" "7-generation family, 11 affected (3F, 8M), seggregating two different genetic hearing loss condistions; 1 double affected individual" "M" "yes" "Pakistan" "" "0" "" "" "" "HL007PatVII3" "00441164" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4491" "00441165" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4305" "00441459" "" "" "00441163" "4" "" "00006" "{PMID:Richard 2019: 30303587}" "4 individuals (F, 3M) seggregating TPRN associated hearing loss" "" "yes" "Pakistan" "" "0" "" "" "" "HL007" "00441482" "" "" "" "3" "" "00006" "{PMID:Boucher 2020:33229591}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "33029" "00441645" "" "" "" "10" "" "00006" "{PMID:Naz 2017:27573290}" "family, 10 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLGM24" "00447403" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "USHI-63" "00447443" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "USHII-365" "00447496" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-331-1" "00447497" "" "" "00447496" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "ARRP-331-2" "00447531" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "CRD-376" "00447634" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "UD-95" "00453449" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00464545" "" "" "" "1" "" "04333" "" "" "M" "yes" "Israel" "" "" "" "" "Muslim Arab" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 857 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00003000" "00198" "00003000" "05121" "00059022" "02357" "00059133" "00531" "00059159" "00531" "00060241" "02357" "00060242" "02357" "00080023" "05103" "00080027" "05103" "00080037" "05103" "00081084" "02357" "00081324" "05086" "00081326" "05086" "00081400" "01371" "00081401" "01371" "00144156" "04214" "00165702" "05414" "00165703" "02115" "00165704" "02115" "00165705" "05415" "00165706" "05415" "00165707" "02115" "00165708" "02115" "00165709" "02115" "00165710" "02115" "00165711" "02115" "00165712" "02115" "00165713" "02115" "00165714" "02115" "00165715" "02115" "00165716" "02115" "00165717" "02115" "00165718" "02115" "00165719" "02115" "00165720" "02115" "00165721" "02115" "00165722" "02115" "00165723" "02115" "00165724" "02115" "00165725" "02115" "00165726" "02115" "00165727" "02115" "00165728" "02115" "00165729" "02115" "00165730" "02115" "00165731" "02115" "00165732" "02115" "00165733" "02115" "00165734" "02115" "00165735" "02115" "00165736" "02115" "00165737" "02115" "00165738" "02115" "00165739" "02115" "00165740" "02115" "00165741" "02115" "00165742" "02115" "00165743" "02115" "00165744" "02115" "00165745" "02115" "00165746" "02115" "00165747" "02115" "00165748" "02115" "00165749" "02115" "00165750" "02115" "00165751" "02115" "00165752" "02115" "00165753" "02115" "00165754" "02115" "00165755" "02115" "00165756" "05400" "00165757" "05400" "00165758" "05400" "00165759" "05400" "00165760" "05400" "00165761" "05400" "00165762" "05400" "00165763" "05400" "00165764" "05400" "00165765" "05400" "00165766" "02115" "00165767" "02115" "00165768" "02115" "00165769" "02115" "00165770" "02115" "00165771" "02115" "00165772" "02115" "00165773" "05400" "00165774" "05400" "00165775" "05400" "00165776" "02115" "00165777" "02115" "00165778" "02115" "00165779" "02115" "00165780" "05414" "00165781" "02115" "00165782" "05414" "00165783" "02115" "00165784" "02115" "00165785" "02115" "00165786" "02115" "00165787" "02115" "00165788" "02115" "00165789" "02115" "00165790" "02115" "00165791" "02115" "00165792" "02115" "00165793" "02115" "00165794" "02115" "00165795" "05400" "00165796" "05400" "00165797" "05400" "00165798" "05415" "00165799" "05415" "00165800" "05415" "00165801" "05415" "00165802" "05415" "00165803" "05415" "00165804" "05415" "00165805" "02115" "00165806" "02115" "00165807" "02115" "00165808" "02115" "00165809" "05400" "00165810" "05400" "00165811" "05400" "00165812" "05400" "00165813" "05400" "00165814" "05400" "00165815" "05400" "00165816" "05400" "00165817" "05400" "00165818" "05400" "00165819" "05400" "00165820" "05400" "00165821" "05400" "00165822" "05400" "00165823" "05400" "00165824" "05400" "00165825" "05400" "00165826" "05400" "00165827" "05400" "00165828" "05415" "00165829" "05415" "00165830" "05415" "00165831" "02115" "00165832" "05415" "00165833" "05415" "00165834" "05415" "00165835" "05415" "00165836" "02115" "00165837" "02115" "00165838" "05415" "00165839" "05415" "00165840" "05415" "00165841" "05415" "00165842" "02115" "00165843" "02115" "00165844" "05400" "00165845" "05400" "00165846" "02115" "00165847" "02115" "00165848" "02115" "00165849" "02115" "00165850" "05415" "00165851" "05415" "00165852" "02115" "00165853" "02115" "00165854" "02115" "00165855" "02115" "00165856" "02115" "00165857" "02115" "00165858" "02115" "00165859" "02115" "00165860" "05400" "00165861" "05400" "00165862" "05400" "00165863" "05400" "00165864" "05400" "00165865" "05415" "00165866" "05415" "00165867" "05415" "00165868" "05415" "00165869" "05415" "00165870" "05400" "00165871" "02115" "00165872" "05415" "00165873" "02115" "00165874" "05415" "00165875" "05415" "00165876" "02115" "00165877" "05400" "00165878" "05400" "00165879" "02115" "00165880" "05415" "00165881" "05415" "00165882" "05415" "00165883" "05415" "00165884" "05415" "00165885" "04211" "00165886" "05415" "00165887" "05415" "00165888" "02115" "00165889" "05415" "00165890" "02115" "00165891" "02115" "00165892" "02115" "00165893" "02115" "00165894" "02115" "00165895" "02115" "00165896" "02115" "00165897" "02115" "00165898" "02115" "00165899" "02115" "00165900" "02115" "00165901" "02115" "00165902" "02115" "00165903" "02115" "00165904" "02115" "00165905" "02115" "00165906" "02115" "00165907" "02115" "00165908" "02115" "00165909" "02115" "00165911" "05400" "00165912" "05400" "00165915" "02115" "00165921" "02115" "00166247" "02115" "00166469" "02115" "00166471" "02115" "00166472" "02115" "00166473" "02115" "00166481" "05400" "00166482" "05400" "00166483" "05400" "00166484" "05400" "00166485" "05400" "00166486" "05400" "00166487" "02115" "00166488" "02115" "00166489" "02115" "00166499" "02115" "00166500" "05400" "00166501" "05400" "00166502" "05400" "00166503" "05400" "00166504" "05400" "00166505" "05400" "00166506" "05400" "00166507" "05400" "00166508" "05400" "00166509" "05400" "00166516" "04214" "00166518" "02115" "00166521" "02115" "00166523" "02115" "00166524" "02115" "00166527" "05414" "00166532" "05414" "00166564" "05414" "00166565" "05414" "00166567" "02115" "00166568" "02115" "00166591" "05414" "00166593" "05414" "00166598" "05414" "00166600" "02115" "00166602" "05459" "00166604" "05414" "00166607" "05414" "00166611" "02115" "00166612" "05459" "00166613" "02115" "00166614" "02115" "00166616" "02115" "00166618" "02115" "00166619" "05414" "00166620" "02115" "00166626" "02115" "00166627" "02115" "00166628" "02115" "00166630" "05414" "00166631" "05415" "00166632" "05414" "00166633" "05414" "00166634" "02115" "00166635" "05414" "00166636" "02115" "00166639" "05414" "00166640" "02115" "00166641" "05414" "00166642" "05414" "00166645" "05414" "00166647" "02115" "00166648" "05414" "00166649" "05414" "00166650" "05414" "00166651" "05414" "00166652" "05414" "00166653" "05414" "00166654" "05414" "00166656" "05414" "00166657" "05414" "00166658" "05415" "00166659" "05414" "00166664" "05414" "00166666" "05414" "00166668" "02115" "00166672" "05414" "00166673" "02115" "00166674" "05414" "00166675" "05414" "00166676" "05414" "00166678" "02115" "00166682" "05414" "00166684" "05414" "00166685" "05414" "00166686" "05414" "00166687" "05414" "00166692" "05414" "00166696" "02115" "00166697" "05414" "00166698" "05414" "00166699" "05414" "00166700" "05415" "00166701" "05415" "00166702" "05414" "00166703" "05459" "00166707" "05414" "00166709" "05414" "00166710" "02115" "00166712" "05414" "00166714" "05414" "00166715" "05459" "00166716" "05414" "00166720" "05415" "00166723" "04211" "00166726" "02115" "00166730" "05414" "00166733" "05414" "00166735" "05415" "00166736" "05415" "00166737" "05414" "00166742" "05414" "00166744" "05414" "00166745" "02115" "00166747" "05414" "00166748" "02115" "00166750" "05414" "00166753" "02115" "00166755" "02115" "00166758" "02115" "00166769" "05400" "00166770" "05400" "00166771" "05400" "00166772" "05400" "00166773" "05400" "00166774" "05400" "00166775" "05400" "00166776" "05400" "00166777" "05400" "00166778" "05400" "00166779" "05400" "00166780" "05400" "00166781" "05400" "00166782" "05400" "00166783" "05400" "00166784" "05400" "00166785" "05400" "00166786" "05400" "00166787" "05400" "00166788" "05400" "00166789" "05400" "00166790" "05400" "00166791" "05400" "00166792" "05400" "00166793" "05400" "00166794" "05400" "00166795" "05400" "00166796" "05400" "00166797" "05400" "00166798" "05400" "00166799" "05400" "00166800" "05400" "00166801" "05400" "00166802" "05400" "00166803" "05400" "00166804" "05400" "00166805" "05400" "00166806" "05400" "00166807" "05400" "00166808" "05400" "00166809" "05400" "00166810" "05400" "00166811" "05400" "00166812" "05400" "00166813" "05400" "00166814" "05400" "00166815" "05400" "00166816" "05400" "00166817" "02115" "00166818" "02115" "00166819" "02115" "00166820" "02115" "00166821" "02115" "00166822" "02115" "00166823" "02115" "00166824" "02115" "00166825" "02115" "00166826" "02115" "00166827" "02115" "00166828" "02115" "00166829" "02115" "00166830" "02115" "00166831" "02115" "00166832" "02115" "00166833" "02115" "00166834" "02115" "00166835" "02115" "00166836" "02115" "00166837" "02115" "00166838" "02115" "00166839" "02115" "00166840" "02115" "00166841" "02115" "00166842" "02115" "00166843" "02115" "00166844" "02115" "00166845" "02115" "00166846" "02115" "00166847" "02115" "00166848" "02115" "00166849" "02115" "00166850" "02115" "00166851" "02115" "00166852" "02115" "00166853" "02115" "00166854" "02115" "00166855" "02115" "00166856" "02115" "00166857" "02115" "00166858" "02115" "00166859" "02115" "00166860" "02115" "00166861" "02115" "00166862" "02115" "00166863" "02115" "00166864" "02115" "00166865" "02115" "00166866" "02115" "00166867" "02115" "00166868" "05400" "00166869" "05400" "00166870" "02115" "00166871" "02115" "00166872" "05400" "00166873" "05400" "00166874" "05400" "00166875" "05400" "00166876" "05400" "00166877" "05400" "00166878" "05400" "00166879" "05400" "00166880" "02115" "00166881" "02115" "00166882" "02115" "00166883" "02115" "00166884" "02115" "00166900" "04211" "00167037" "05400" "00167038" "05400" "00167039" "05400" "00167040" "05400" "00167041" "05400" "00167042" "05400" "00167043" "05400" "00167044" "05400" "00167045" "05400" "00167046" "05400" "00167047" "05400" "00167055" "02115" "00167074" "05400" "00167075" "05400" "00167076" "05400" "00167077" "05400" "00167078" "05400" "00167079" "05400" "00167080" "05400" "00167081" "05400" "00167082" "05400" "00167083" "05400" "00167084" "05400" "00167085" "05400" "00167086" "05400" "00167087" "05400" "00167088" "05400" "00167089" "05400" "00167090" "05400" "00167091" "05400" "00167092" "05400" "00167093" "05400" "00167094" "05400" "00167095" "05400" "00167096" "05400" "00167097" "05400" "00167098" "05400" "00167099" "05400" "00167100" "05400" "00167101" "05400" "00167102" "05400" "00167103" "05400" "00167104" "05400" "00167105" "05400" "00167106" "05400" "00167107" "05400" "00167108" "05400" "00167109" "05400" "00167110" "05400" "00167111" "05400" "00167112" "05400" "00167124" "05414" "00167132" "02115" "00167133" "02115" "00167134" "02115" "00167135" "05414" "00167143" "05458" "00167144" "05458" "00167145" "02115" "00167148" "02115" "00167149" "02115" "00167152" "05415" "00167163" "05400" "00167164" "05400" "00167236" "02115" "00167269" "05400" "00167270" "05400" "00167271" "05400" "00167272" "05400" "00167273" "05400" "00167274" "05400" "00167275" "05400" "00167276" "05400" "00167277" "05400" "00167278" "05400" "00167279" "05400" "00167280" "05400" "00167281" "05458" "00167282" "05458" "00167283" "05458" "00167284" "04211" "00167296" "02115" "00167297" "02115" "00167298" "02115" "00167299" "02115" "00167300" "02115" "00167441" "05414" "00167442" "02115" "00167443" "02115" "00167447" "02115" "00167627" "02115" "00167636" "05400" "00167637" "05400" "00167638" "05400" "00167639" "05400" "00167640" "05400" "00167641" "05400" "00167642" "05400" "00167643" "05400" "00167644" "05400" "00167645" "05400" "00167646" "05400" "00167647" "05400" "00167649" "02115" "00167650" "02115" "00167652" "05414" "00167655" "02115" "00167666" "02115" "00167667" "05414" "00167668" "02115" "00167670" "02115" "00167671" "02115" "00167672" "02115" "00167673" "02115" "00167674" "02115" "00167675" "02115" "00167676" "02115" "00167677" "02115" "00167678" "02115" "00167679" "02115" "00167680" "02115" "00167681" "02115" "00167682" "02115" "00167683" "02115" "00167694" "02115" "00167696" "05400" "00167697" "05400" "00167698" "05400" "00167699" "05400" "00167700" "05400" "00167701" "05400" "00167702" "02115" "00167704" "02115" "00167705" "02115" "00167707" "05458" "00167708" "05458" "00167709" "05458" "00167710" "05458" "00167711" "05458" "00167712" "05458" "00167713" "05458" "00167714" "05458" "00167715" "05458" "00167716" "05458" "00167717" "05400" "00167718" "05400" "00167719" "05400" "00167720" "05400" "00167721" "05400" "00167722" "05400" "00167723" "05400" "00167724" "05400" "00167786" "05414" "00167787" "02115" "00167788" "02115" "00167789" "02115" "00167790" "02115" "00167791" "02115" "00167792" "02115" "00167793" "02115" "00167794" "02115" "00167795" "02115" "00167796" "02115" "00167797" "02115" "00167798" "02115" "00167799" "02115" "00167800" "02115" "00167801" "02115" "00167802" "02115" "00167803" "02115" "00167804" "02115" "00167805" "02115" "00167806" "02115" "00167854" "02115" "00167855" "02115" "00167856" "02115" "00167857" "02115" "00167858" "02115" "00167859" "02115" "00168026" "05400" "00168027" "05400" "00168028" "05400" "00168035" "02115" "00181507" "05086" "00181508" "05086" "00181509" "05086" "00207591" "05415" "00290105" "00198" "00290106" "00198" "00290107" "00198" "00290108" "00198" "00290109" "00198" "00290110" "00198" "00290111" "00198" "00290112" "00198" "00290113" "00198" "00290114" "00198" "00290115" "00198" "00290116" "00198" "00290117" "00198" "00290118" "00198" "00290119" "00198" "00290120" "00198" "00290121" "00198" "00290122" "00198" "00290123" "00198" "00290124" "00198" "00290125" "00198" "00290126" "00198" "00290127" "00198" "00290128" "00198" "00290129" "00198" "00290130" "00198" "00290131" "00198" "00290132" "00198" "00299640" "04214" "00304256" "00198" "00304257" "00198" "00304258" "00198" "00304259" "00198" "00304260" "00198" "00304261" "00198" "00304262" "00198" "00306910" "05086" "00308491" "04214" "00308605" "04214" "00308785" "05415" "00308786" "05415" "00308787" "05415" "00308788" "05415" "00308792" "05415" "00309016" "04214" "00309559" "04214" "00309564" "04214" "00309580" "04214" "00309594" "04214" "00309595" "04214" "00309607" "04214" "00314772" "05086" "00314956" "02357" "00327069" "00350" "00327078" "00350" "00327086" "00350" "00327087" "00350" "00327131" "00350" "00327132" "00350" "00327136" "00350" "00327137" "00350" "00327138" "00350" "00327139" "00350" "00327140" "00350" "00327400" "05400" "00327400" "05412" "00331626" "05086" "00331704" "05086" "00331705" "05086" "00332219" "04214" "00332225" "04214" "00332434" "04214" "00332441" "04214" "00333356" "04214" "00333358" "04214" "00333360" "04214" "00333366" "04214" "00334003" "04214" "00334004" "04214" "00334005" "04214" "00334006" "04214" "00335093" "00198" "00335094" "00198" "00335251" "04214" "00335847" "04214" "00335848" "04214" "00335849" "04214" "00335857" "04214" "00335858" "04214" "00335859" "04214" "00335868" "04214" "00358946" "04214" "00358967" "04214" "00358968" "04214" "00358975" "04214" "00359270" "04214" "00359376" "04214" "00361790" "05415" "00363216" "05415" "00363217" "05415" "00363218" "05415" "00363219" "05415" "00363220" "05415" "00363221" "05415" "00363230" "05415" "00368317" "04214" "00373525" "04214" "00373807" "04214" "00373840" "04214" "00373841" "04214" "00373842" "04214" "00375266" "05415" "00375412" "04214" "00375413" "04214" "00375414" "04214" "00375418" "04214" "00375419" "04214" "00375422" "04214" "00375423" "04214" "00375432" "04214" "00375433" "04214" "00380215" "04214" "00381608" "04214" "00382245" "04214" "00382306" "04214" "00382506" "04214" "00382507" "04214" "00382508" "04214" "00382509" "04214" "00383788" "04214" "00385393" "04214" "00386723" "04214" "00386887" "04214" "00386918" "04214" "00387249" "02116" "00387303" "02116" "00387305" "05981" "00387673" "04214" "00388760" "04214" "00388770" "04214" "00388771" "04214" "00388782" "04214" "00388783" "04214" "00388901" "04214" "00389116" "04214" "00389280" "04214" "00389521" "04214" "00390198" "04214" "00391493" "04214" "00394694" "04214" "00394695" "04214" "00394696" "04214" "00394697" "04214" "00394698" "04214" "00395596" "04214" "00395963" "04214" "00396220" "04214" "00396222" "04214" "00396230" "04214" "00396231" "04214" "00396259" "04214" "00396260" "04214" "00396284" "04214" "00396285" "04214" "00396286" "04214" "00396287" "04214" "00402163" "04214" "00410960" "04214" "00410961" "04214" "00410962" "04214" "00410963" "04214" "00410964" "04214" "00428009" "00198" "00441151" "05086" "00441152" "05086" "00441153" "05086" "00441154" "05086" "00441155" "05086" "00441156" "05086" "00441157" "05086" "00441158" "05086" "00441159" "05086" "00441160" "05086" "00441161" "05086" "00441162" "05086" "00441163" "05086" "00441164" "05086" "00441165" "05086" "00441459" "05086" "00441482" "05086" "00441645" "05086" "00447403" "00198" "00447443" "00198" "00447496" "00198" "00447497" "00198" "00447531" "00198" "00447634" "00198" "00453449" "05103" "00464545" "02337" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00350, 00531, 01157, 01371, 02115, 02116, 02337, 02357, 04211, 04214, 05086, 05103, 05121, 05400, 05412, 05414, 05415, 05458, 05459, 05981, 06082 ## Count = 802 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000001851" "00198" "00003000" "00130" "Familial, autosomal dominant" "" "bowlshaped hearing loss" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000045610" "02357" "00059022" "01496" "Familial, autosomal recessive" "" "congenital severe hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000046726" "02357" "00060241" "01542" "Familial, autosomal recessive" "" "Congenital, profound NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000046727" "02357" "00060242" "01542" "Familial, autosomal recessive" "" "Congenital profound NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000060653" "02357" "00081084" "01758" "Familial, autosomal recessive" "" "Deafness, autosomal recessive 12 (OMIM:601386)" "" "" "" "" "" "" "" "" "" "" "" "0000060963" "01371" "00081400" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060964" "01371" "00081401" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116934" "04214" "00144156" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000130566" "05414" "00165702" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130567" "02115" "00165703" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130568" "02115" "00165704" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130569" "05415" "00165705" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130570" "05415" "00165706" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130571" "02115" "00165707" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130572" "02115" "00165708" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130573" "02115" "00165709" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130574" "02115" "00165710" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130575" "02115" "00165711" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130576" "02115" "00165712" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130577" "02115" "00165713" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130578" "02115" "00165714" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130579" "02115" "00165715" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130580" "02115" "00165716" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130581" "02115" "00165717" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130582" "02115" "00165718" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130583" "02115" "00165719" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130584" "02115" "00165720" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130585" "02115" "00165721" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130586" "02115" "00165722" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130587" "02115" "00165723" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130588" "02115" "00165724" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130589" "02115" "00165725" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130590" "02115" "00165726" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130591" "02115" "00165727" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130592" "02115" "00165728" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130593" "02115" "00165729" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130594" "02115" "00165730" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130595" "02115" "00165731" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130596" "02115" "00165732" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130597" "02115" "00165733" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130598" "02115" "00165734" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130599" "02115" "00165735" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130600" "02115" "00165736" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130601" "02115" "00165737" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130602" "02115" "00165738" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130603" "02115" "00165739" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130604" "02115" "00165740" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130605" "02115" "00165741" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130606" "02115" "00165742" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130607" "02115" "00165743" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130608" "02115" "00165744" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130609" "02115" "00165745" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130610" "02115" "00165746" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130611" "02115" "00165747" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130612" "02115" "00165748" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130613" "02115" "00165749" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130614" "02115" "00165750" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130615" "02115" "00165751" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130616" "02115" "00165752" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130617" "02115" "00165753" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130618" "02115" "00165754" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130619" "02115" "00165755" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130620" "05400" "00165756" "02416" "Familial, autosomal recessive" "" "severe HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130621" "05400" "00165757" "02416" "Unknown" "" "profound HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130622" "05400" "00165758" "02416" "Unknown" "" "profound HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130623" "05400" "00165759" "02416" "Unknown" "" "profound HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130624" "05400" "00165760" "02416" "Unknown" "" "profound HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130625" "05400" "00165761" "02416" "Unknown" "" "moderate HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130626" "05400" "00165762" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130627" "05400" "00165763" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130628" "05400" "00165764" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130629" "05400" "00165765" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130630" "02115" "00165766" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130631" "02115" "00165767" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130632" "02115" "00165768" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130633" "02115" "00165769" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130634" "02115" "00165770" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130635" "02115" "00165771" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130636" "02115" "00165772" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130637" "05400" "00165773" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130638" "05400" "00165774" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130639" "05400" "00165775" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130640" "02115" "00165776" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130641" "02115" "00165777" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130642" "02115" "00165778" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130643" "02115" "00165779" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130644" "05414" "00165780" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130645" "02115" "00165781" "02417" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130646" "05414" "00165782" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130647" "02115" "00165783" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130648" "02115" "00165784" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130649" "02115" "00165785" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130650" "02115" "00165786" "02417" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130651" "02115" "00165787" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130652" "02115" "00165788" "02417" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130653" "02115" "00165789" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130654" "02115" "00165790" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130655" "02115" "00165791" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130656" "02115" "00165792" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130657" "02115" "00165793" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130658" "02115" "00165794" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130659" "05400" "00165795" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130660" "05400" "00165796" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130661" "05400" "00165797" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130662" "05415" "00165798" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130663" "05415" "00165799" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130664" "05415" "00165800" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130665" "05415" "00165801" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130666" "05415" "00165802" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130667" "05415" "00165803" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130668" "05415" "00165804" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130669" "02115" "00165805" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130670" "02115" "00165806" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130671" "02115" "00165807" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130672" "02115" "00165808" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130673" "05400" "00165809" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130674" "05400" "00165810" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130675" "05400" "00165811" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130676" "05400" "00165812" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130677" "05400" "00165813" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130678" "05400" "00165814" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130679" "05400" "00165815" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130680" "05400" "00165816" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130681" "05400" "00165817" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130682" "05400" "00165818" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130683" "05400" "00165819" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130684" "05400" "00165820" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130685" "05400" "00165821" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130686" "05400" "00165822" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130687" "05400" "00165823" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130688" "05400" "00165824" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130689" "05400" "00165825" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130690" "05400" "00165826" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130691" "05400" "00165827" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130692" "05415" "00165828" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130693" "05415" "00165829" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130694" "05415" "00165830" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130695" "02115" "00165831" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130696" "05415" "00165832" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130697" "05415" "00165833" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130698" "05415" "00165834" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130699" "05415" "00165835" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130700" "02115" "00165836" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130701" "02115" "00165837" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130702" "05415" "00165838" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130703" "05415" "00165839" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130704" "05415" "00165840" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130705" "05415" "00165841" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130706" "02115" "00165842" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130707" "02115" "00165843" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130708" "05400" "00165844" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130709" "05400" "00165845" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130710" "02115" "00165846" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130711" "02115" "00165847" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130712" "02115" "00165848" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130713" "02115" "00165849" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130714" "05415" "00165850" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130715" "05415" "00165851" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130716" "02115" "00165852" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130717" "02115" "00165853" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130718" "02115" "00165854" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130719" "02115" "00165855" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130720" "02115" "00165856" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130721" "02115" "00165857" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130722" "02115" "00165858" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130723" "02115" "00165859" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130724" "05400" "00165860" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130725" "05400" "00165861" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130726" "05400" "00165862" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130727" "05400" "00165863" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130728" "05400" "00165864" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130729" "05415" "00165865" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130730" "05415" "00165866" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130731" "05415" "00165867" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130732" "05415" "00165868" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130733" "05415" "00165869" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130734" "05400" "00165870" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130735" "02115" "00165871" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130736" "05415" "00165872" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130737" "02115" "00165873" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130738" "05415" "00165874" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130739" "05415" "00165875" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130740" "02115" "00165876" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130741" "05400" "00165877" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130742" "05400" "00165878" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130743" "02115" "00165879" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130744" "05415" "00165880" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130745" "05415" "00165881" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130746" "05415" "00165882" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130747" "05415" "00165883" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130748" "05415" "00165884" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130749" "04211" "00165885" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000130750" "05415" "00165886" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130751" "05415" "00165887" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130752" "02115" "00165888" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130753" "05415" "00165889" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000130754" "02115" "00165890" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130755" "02115" "00165891" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130756" "02115" "00165892" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130757" "02115" "00165893" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130758" "02115" "00165894" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130759" "02115" "00165895" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130760" "02115" "00165896" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130761" "02115" "00165897" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130762" "02115" "00165898" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130763" "02115" "00165899" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130764" "02115" "00165900" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130765" "02115" "00165901" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130766" "02115" "00165902" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130767" "02115" "00165903" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130768" "02115" "00165904" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130769" "02115" "00165905" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130770" "02115" "00165906" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130771" "02115" "00165907" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130772" "02115" "00165908" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130773" "02115" "00165909" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130775" "05400" "00165911" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130776" "05400" "00165912" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000130779" "02115" "00165915" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130785" "02115" "00165921" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131111" "02115" "00166247" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131333" "02115" "00166469" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131335" "02115" "00166471" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131336" "02115" "00166472" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131337" "02115" "00166473" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131345" "05400" "00166481" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131346" "05400" "00166482" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131347" "05400" "00166483" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131348" "05400" "00166484" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131349" "05400" "00166485" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131350" "05400" "00166486" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131351" "02115" "00166487" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131352" "02115" "00166488" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131353" "02115" "00166489" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131363" "02115" "00166499" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131364" "05400" "00166500" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131365" "05400" "00166501" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131366" "05400" "00166502" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131367" "05400" "00166503" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131368" "05400" "00166504" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-2" "deafness" "" "0000131369" "05400" "00166505" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131370" "05400" "00166506" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131371" "05400" "00166507" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131372" "05400" "00166508" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131373" "05400" "00166509" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131380" "04214" "00166516" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa, hearing loss" "" "0000131382" "02115" "00166518" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131385" "02115" "00166521" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131387" "02115" "00166523" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131388" "02115" "00166524" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131391" "05414" "00166527" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131396" "05414" "00166532" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131428" "05414" "00166564" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131429" "05414" "00166565" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131431" "02115" "00166567" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131432" "02115" "00166568" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131455" "05414" "00166591" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131457" "05414" "00166593" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131462" "05414" "00166598" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131464" "02115" "00166600" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131466" "05459" "00166602" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131468" "05414" "00166604" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131471" "05414" "00166607" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131475" "02115" "00166611" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131476" "05459" "00166612" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131477" "02115" "00166613" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131478" "02115" "00166614" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131480" "02115" "00166616" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131482" "02115" "00166618" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131483" "05414" "00166619" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131484" "02115" "00166620" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131490" "02115" "00166626" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131491" "02115" "00166627" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131492" "02115" "00166628" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131494" "05414" "00166630" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131495" "05415" "00166631" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131496" "05414" "00166632" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131497" "05414" "00166633" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131498" "02115" "00166634" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131499" "05414" "00166635" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131500" "02115" "00166636" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131503" "05414" "00166639" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131504" "02115" "00166640" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131505" "05414" "00166641" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131506" "05414" "00166642" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131509" "05414" "00166645" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131511" "02115" "00166647" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131512" "05414" "00166648" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131513" "05414" "00166649" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131514" "05414" "00166650" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131515" "05414" "00166651" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131516" "05414" "00166652" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131517" "05414" "00166653" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131518" "05414" "00166654" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131520" "05414" "00166656" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131521" "05414" "00166657" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131522" "05415" "00166658" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131523" "05414" "00166659" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131528" "05414" "00166664" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131530" "05414" "00166666" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131532" "02115" "00166668" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131536" "05414" "00166672" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131537" "02115" "00166673" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131538" "05414" "00166674" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131539" "05414" "00166675" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131540" "05414" "00166676" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131542" "02115" "00166678" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131546" "05414" "00166682" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131548" "05414" "00166684" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131549" "05414" "00166685" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131550" "05414" "00166686" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131551" "05414" "00166687" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131556" "05414" "00166692" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131560" "02115" "00166696" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131561" "05414" "00166697" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131562" "05414" "00166698" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131563" "05414" "00166699" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131564" "05415" "00166700" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131565" "05415" "00166701" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131566" "05414" "00166702" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131567" "05459" "00166703" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131571" "05414" "00166707" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131573" "05414" "00166709" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131574" "02115" "00166710" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131576" "05414" "00166712" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131578" "05414" "00166714" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131579" "05459" "00166715" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131580" "05414" "00166716" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131584" "05415" "00166720" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131587" "04211" "00166723" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131590" "02115" "00166726" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131594" "05414" "00166730" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131597" "05414" "00166733" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131599" "05415" "00166735" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131600" "05415" "00166736" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131601" "05414" "00166737" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131606" "05414" "00166742" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131608" "05414" "00166744" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131609" "02115" "00166745" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131611" "05414" "00166747" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131612" "02115" "00166748" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131614" "05414" "00166750" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131617" "02115" "00166753" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131619" "02115" "00166755" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131622" "02115" "00166758" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131633" "05400" "00166769" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131634" "05400" "00166770" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131635" "05400" "00166771" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131636" "05400" "00166772" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131637" "05400" "00166773" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131638" "05400" "00166774" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131639" "05400" "00166775" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131640" "05400" "00166776" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131641" "05400" "00166777" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131642" "05400" "00166778" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131643" "05400" "00166779" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131644" "05400" "00166780" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131645" "05400" "00166781" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131646" "05400" "00166782" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131647" "05400" "00166783" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131648" "05400" "00166784" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131649" "05400" "00166785" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131650" "05400" "00166786" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131651" "05400" "00166787" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131652" "05400" "00166788" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131653" "05400" "00166789" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131654" "05400" "00166790" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131655" "05400" "00166791" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131656" "05400" "00166792" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131657" "05400" "00166793" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131658" "05400" "00166794" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131659" "05400" "00166795" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131660" "05400" "00166796" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131661" "05400" "00166797" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131662" "05400" "00166798" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131663" "05400" "00166799" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131664" "05400" "00166800" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131665" "05400" "00166801" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131666" "05400" "00166802" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131667" "05400" "00166803" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131668" "05400" "00166804" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131669" "05400" "00166805" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131670" "05400" "00166806" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131671" "05400" "00166807" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131672" "05400" "00166808" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131673" "05400" "00166809" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131674" "05400" "00166810" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131675" "05400" "00166811" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131676" "05400" "00166812" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131677" "05400" "00166813" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131678" "05400" "00166814" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131679" "05400" "00166815" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131680" "05400" "00166816" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131681" "02115" "00166817" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131682" "02115" "00166818" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131683" "02115" "00166819" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131684" "02115" "00166820" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131685" "02115" "00166821" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131686" "02115" "00166822" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131687" "02115" "00166823" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131688" "02115" "00166824" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131689" "02115" "00166825" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131690" "02115" "00166826" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131691" "02115" "00166827" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131692" "02115" "00166828" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131693" "02115" "00166829" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131694" "02115" "00166830" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131695" "02115" "00166831" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131696" "02115" "00166832" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131697" "02115" "00166833" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131698" "02115" "00166834" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131699" "02115" "00166835" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131700" "02115" "00166836" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131701" "02115" "00166837" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131702" "02115" "00166838" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131703" "02115" "00166839" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131704" "02115" "00166840" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131705" "02115" "00166841" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131706" "02115" "00166842" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131707" "02115" "00166843" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131708" "02115" "00166844" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131709" "02115" "00166845" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131710" "02115" "00166846" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131711" "02115" "00166847" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131712" "02115" "00166848" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131713" "02115" "00166849" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131714" "02115" "00166850" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131715" "02115" "00166851" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131716" "02115" "00166852" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131717" "02115" "00166853" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131718" "02115" "00166854" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131719" "02115" "00166855" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131720" "02115" "00166856" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131721" "02115" "00166857" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131722" "02115" "00166858" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131723" "02115" "00166859" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131724" "02115" "00166860" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131725" "02115" "00166861" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131726" "02115" "00166862" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131727" "02115" "00166863" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131728" "02115" "00166864" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131729" "02115" "00166865" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131730" "02115" "00166866" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131731" "02115" "00166867" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131732" "05400" "00166868" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131733" "05400" "00166869" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131734" "02115" "00166870" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131735" "02115" "00166871" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131736" "05400" "00166872" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131737" "05400" "00166873" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131738" "05400" "00166874" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131739" "05400" "00166875" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131740" "05400" "00166876" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131741" "05400" "00166877" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131742" "05400" "00166878" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131743" "05400" "00166879" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131744" "02115" "00166880" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131745" "02115" "00166881" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131746" "02115" "00166882" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131747" "02115" "00166883" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131748" "02115" "00166884" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131764" "04211" "00166900" "02416" "Familial, autosomal recessive" "" "retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; mild intellectual disability" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131901" "05400" "00167037" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131902" "05400" "00167038" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131903" "05400" "00167039" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131904" "05400" "00167040" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131905" "05400" "00167041" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131906" "05400" "00167042" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131907" "05400" "00167043" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131908" "05400" "00167044" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131909" "05400" "00167045" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131910" "05400" "00167046" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131911" "05400" "00167047" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131919" "02115" "00167055" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131938" "05400" "00167074" "02416" "Familial, autosomal recessive" "" "severe HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131939" "05400" "00167075" "02416" "Familial, autosomal recessive" "" "profound HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131940" "05400" "00167076" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131941" "05400" "00167077" "02416" "Familial, autosomal recessive" "" "severe HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131942" "05400" "00167078" "02416" "Familial, autosomal recessive" "" "severe HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131943" "05400" "00167079" "02416" "Familial, autosomal recessive" "" "severe HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131944" "05400" "00167080" "02416" "Familial, autosomal recessive" "" "severe HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131945" "05400" "00167081" "02416" "Familial, autosomal recessive" "" "profound HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131946" "05400" "00167082" "02416" "Familial, autosomal recessive" "" "profound HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131947" "05400" "00167083" "02416" "Familial, autosomal recessive" "" "severe HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131948" "05400" "00167084" "02416" "Unknown" "" "Profound HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131949" "05400" "00167085" "02416" "Unknown" "" "unilateral HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131950" "05400" "00167086" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131951" "05400" "00167087" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131952" "05400" "00167088" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131953" "05400" "00167089" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131954" "05400" "00167090" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131955" "05400" "00167091" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131956" "05400" "00167092" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131957" "05400" "00167093" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131958" "05400" "00167094" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131959" "05400" "00167095" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131960" "05400" "00167096" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131961" "05400" "00167097" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131962" "05400" "00167098" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131963" "05400" "00167099" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131964" "05400" "00167100" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131965" "05400" "00167101" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131966" "05400" "00167102" "02416" "Familial, autosomal recessive" "" "mild HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131967" "05400" "00167103" "02416" "Unknown" "" "severe HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131968" "05400" "00167104" "02416" "Unknown" "" "mild HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131969" "05400" "00167105" "02416" "Unknown" "" "profound HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131970" "05400" "00167106" "02416" "Unknown" "" "profound HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131971" "05400" "00167107" "02416" "Unknown" "" "severe HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131972" "05400" "00167108" "02416" "Unknown" "" "profound HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131973" "05400" "00167109" "02416" "Unknown" "" "profound HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131974" "05400" "00167110" "02416" "Unknown" "" "severe HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131975" "05400" "00167111" "02416" "Unknown" "" "severe HL" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131976" "05400" "00167112" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000131988" "05414" "00167124" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131996" "02115" "00167132" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131997" "02115" "00167133" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131998" "02115" "00167134" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131999" "05414" "00167135" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132007" "05458" "00167143" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132008" "05458" "00167144" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132009" "02115" "00167145" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132012" "02115" "00167148" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132013" "02115" "00167149" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132016" "05415" "00167152" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000132027" "05400" "00167163" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132028" "05400" "00167164" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132100" "02115" "00167236" "00143" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132133" "05400" "00167269" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132134" "05400" "00167270" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132135" "05400" "00167271" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132136" "05400" "00167272" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132137" "05400" "00167273" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132138" "05400" "00167274" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132139" "05400" "00167275" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132140" "05400" "00167276" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132141" "05400" "00167277" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132142" "05400" "00167278" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132143" "05400" "00167279" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132144" "05400" "00167280" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132145" "05458" "00167281" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132146" "05458" "00167282" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132147" "05458" "00167283" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132148" "04211" "00167284" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000132160" "02115" "00167296" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132161" "02115" "00167297" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132162" "02115" "00167298" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132163" "02115" "00167299" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132164" "02115" "00167300" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132305" "05414" "00167441" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132306" "02115" "00167442" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132307" "02115" "00167443" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132311" "02115" "00167447" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132491" "02115" "00167627" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132500" "05400" "00167636" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132501" "05400" "00167637" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132502" "05400" "00167638" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132503" "05400" "00167639" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132504" "05400" "00167640" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132505" "05400" "00167641" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132506" "05400" "00167642" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132507" "05400" "00167643" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132508" "05400" "00167644" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132509" "05400" "00167645" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132510" "05400" "00167646" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132511" "05400" "00167647" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132513" "02115" "00167649" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132514" "02115" "00167650" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132516" "05414" "00167652" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132519" "02115" "00167655" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132530" "02115" "00167666" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132531" "05414" "00167667" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132532" "02115" "00167668" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132534" "02115" "00167670" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132535" "02115" "00167671" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132536" "02115" "00167672" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132537" "02115" "00167673" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132538" "02115" "00167674" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132539" "02115" "00167675" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132540" "02115" "00167676" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132541" "02115" "00167677" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132542" "02115" "00167678" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132543" "02115" "00167679" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132544" "02115" "00167680" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132545" "02115" "00167681" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132546" "02115" "00167682" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132547" "02115" "00167683" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132558" "02115" "00167694" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132560" "05400" "00167696" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132561" "05400" "00167697" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132562" "05400" "00167698" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132563" "05400" "00167699" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132564" "05400" "00167700" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132565" "05400" "00167701" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132566" "02115" "00167702" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132568" "02115" "00167704" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132569" "02115" "00167705" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132571" "05458" "00167707" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132572" "05458" "00167708" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132573" "05458" "00167709" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132574" "05458" "00167710" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132575" "05458" "00167711" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132576" "05458" "00167712" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132577" "05458" "00167713" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132578" "05458" "00167714" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132579" "05458" "00167715" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132580" "05458" "00167716" "02425" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132581" "05400" "00167717" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132582" "05400" "00167718" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132583" "05400" "00167719" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132584" "05400" "00167720" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132585" "05400" "00167721" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132586" "05400" "00167722" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132587" "05400" "00167723" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132588" "05400" "00167724" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132650" "05414" "00167786" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132651" "02115" "00167787" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132652" "02115" "00167788" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132653" "02115" "00167789" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132654" "02115" "00167790" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132655" "02115" "00167791" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132656" "02115" "00167792" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132657" "02115" "00167793" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132658" "02115" "00167794" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132659" "02115" "00167795" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132660" "02115" "00167796" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132661" "02115" "00167797" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132662" "02115" "00167798" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132663" "02115" "00167799" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132664" "02115" "00167800" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132665" "02115" "00167801" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132666" "02115" "00167802" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132667" "02115" "00167803" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132668" "02115" "00167804" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132669" "02115" "00167805" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132670" "02115" "00167806" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132718" "02115" "00167854" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132719" "02115" "00167855" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132720" "02115" "00167856" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132721" "02115" "00167857" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132722" "02115" "00167858" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132723" "02115" "00167859" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132890" "05400" "00168026" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132891" "05400" "00168027" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132892" "05400" "00168028" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000132899" "02115" "00168035" "02430" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000143693" "05086" "00081324" "01779" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "age-related hearing loss" "" "0000143694" "05086" "00081326" "01779" "Unknown" "04y" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000143696" "05086" "00181507" "00006" "Familial, autosomal recessive" "03y" "severe-to-profound autosomal recessive prelingual SNHL (arSNHL) with minimal residual hearing" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000143697" "05086" "00181508" "00006" "Familial, autosomal recessive" "01y" "severe-to-profound autosomal recessive prelingual SNHL (arSNHL) with minimal residual hearing" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000143698" "05086" "00181509" "00006" "Familial, autosomal recessive" "01y" "severe-to-profound autosomal recessive prelingual SNHL (arSNHL) with minimal residual hearing" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000155402" "05415" "00207591" "01244" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000226950" "04214" "00299640" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., 20y-reduced acuity (HP:0007663), mild nyctalopia (HP:0000662), blind spots (HP:0000575); irregular peripheral pigment (HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), vitreous opacities (HP:0007648), attenuated sheathed vessels (HP:0007843), peripheral retinal exudate (HP:0001147); 30y-subnormal PERG, rod specific ERG markedly subnormal, bright flash subnormal with unusual bifid b waves, cone specific delayed and subnormal, profound rod>cone dysfunction; 29y-colour vision Ishihara R 17/17 L 13/17; 36y-octopus visual fields central 20-30 degrees retained on R, 30-50 degrees on L;37y 24-2 central scotomas, fields constricted to 15 degrees each eye; presenting VA logMAR (Snellen) R 0.3 (20/40), L 0.18 (20/30); latest VA logMAR R 0.6 (20/80), L 0.6 (20/80); latest refractive error, dioptres R 0/-0.50x100, L +1.00/-0.75x110" "20y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000232733" "05086" "00306910" "03388" "Familial, autosomal recessive" "09y?" "HP:0008619\r\nHP:0000365" "" "09y?" "" "Cadherin-23" "" "" "" "" "Autosomal recessive non syndromic hearing loss" "Non syndromic hearing loss" "" "0000233919" "04214" "00308491" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234033" "04214" "00308605" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234107" "05415" "00308785" "00004" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "USH1" "" "0000234108" "05415" "00308786" "00004" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "USH1" "" "0000234109" "05415" "00308787" "00004" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "USH1" "" "0000234110" "05415" "00308788" "00004" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "USH1" "" "0000234114" "05415" "00308792" "00004" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "USH1" "" "0000234336" "04214" "00309016" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234879" "04214" "00309559" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234884" "04214" "00309564" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234900" "04214" "00309580" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234914" "04214" "00309594" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000234915" "04214" "00309595" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000234927" "04214" "00309607" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000238568" "05086" "00314772" "00006" "Familial, autosomal recessive" "" "see paper; hearing loss , ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000238715" "02357" "00314956" "03829" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000245691" "05412" "00327400" "03980" "Familial, autosomal recessive" "11y" "Fundus/History: Bilateral macular schisis, vitreous veils, mild pigmentary retinopathy. Right eye developed shallow rhegmatogenous inferior retinal detachment, and was treated by scleral buckle procedure, cryotherapy with gas injection.\r\n\r\nOcular Coherence Tomography: Bilateral parafoveal thinning of the outer retina layers. Central splitting between the inner nuclear and the outer plexiform layer. \r\n\r\nElectroretinogram (ERG): Small residual cone flicker (6.2 microV in OD, and 7.1 microV in OS) with no measurable responses to ISCE standard seriesd ERG in ffERG" "" "" "" "" "" "" "" "" "" "" "" "0000249818" "05086" "00331626" "00000" "Familial, autosomal recessive" "45y" "" "25y" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000249896" "05086" "00331704" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000249897" "05086" "00331705" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250406" "04214" "00332219" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000250412" "04214" "00332225" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiplex retinitis pigmentosa" "" "0000250618" "04214" "00332434" "00000" "Familial, autosomal recessive" "21y" "see paper; ..., 10y-onset visual impairment" "2y" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000250625" "04214" "00332441" "00000" "Familial, autosomal recessive" "45y" "see paper; ..., 20y-onset visual impairment" "7y" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000251543" "04214" "00333356" "00000" "Familial, autosomal dominant" "39y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251545" "04214" "00333358" "00000" "Familial, X-linked recessive" "40y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251547" "04214" "00333360" "00000" "Familial, autosomal dominant" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251553" "04214" "00333366" "00000" "Unknown" "20y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252188" "04214" "00334003" "00000" "Familial, autosomal recessive" "14y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252189" "04214" "00334004" "00000" "Familial, autosomal recessive" "38y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252190" "04214" "00334005" "00000" "Familial, autosomal recessive" "39y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252191" "04214" "00334006" "00000" "Familial, autosomal recessive" "13y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252808" "00198" "00335093" "00000" "Familial, autosomal recessive" "" "Usher syndrome; 12y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252809" "00198" "00335094" "00000" "Unknown" "" "Usher syndrome with balance disorder; 13y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252966" "04214" "00335251" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000253748" "04214" "00335847" "00000" "Familial, autosomal recessive" "" "cataract" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253749" "04214" "00335848" "00000" "Familial, autosomal recessive" "" "<4y-onset night blindness; cataract" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253750" "04214" "00335849" "00000" "Familial, autosomal recessive" "" "no cataract" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253758" "04214" "00335857" "00000" "Familial, autosomal recessive" "" "14y-onset night blindness; macula edema; no cataract" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253759" "04214" "00335858" "00000" "Familial, autosomal recessive" "" "no cataract; congenital severe to profound hearing impairment" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253760" "04214" "00335859" "00000" "Familial, autosomal recessive" "" "10y-onset night blindness; macula edema; no cataract; congenital severe to profound hearing impairment" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253769" "04214" "00335868" "00000" "Familial, autosomal recessive" "" "cataract; congenital severe to profound hearing impairment" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000254244" "04214" "00358946" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000254265" "04214" "00358967" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254266" "04214" "00358968" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254273" "04214" "00358975" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000254567" "04214" "00359270" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000254647" "04214" "00359376" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000257185" "05415" "00361790" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000258581" "05415" "00363216" "00000" "Familial, autosomal recessive" "29y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258582" "05415" "00363217" "00000" "Familial, autosomal recessive" "3m" "no retinal dystrophy at time the genetic diagnosis" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258583" "05415" "00363218" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258584" "05415" "00363219" "00000" "Familial, autosomal recessive" "15y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258585" "05415" "00363220" "00000" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258586" "05415" "00363221" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258595" "05415" "00363230" "00000" "Familial, autosomal recessive" "30y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, atypical" "" "0000263655" "04214" "00368317" "01695" "Unknown" "" "Histroy: Decreased visual acuity for about 14y; mild night blindness since childhood; his elder sister was also affected. At the age of 25: BCVA (OD/OS): 0.05; 0.05 Fundus features: Bilateral retinal arteriolar attenuation, widespread RPE atrophy; bilateral beaten-bronze appearing macular lesions with yellow flecks around macula, pale optic disc" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" "" "0000268801" "04214" "00373525" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt macular dystrophy" "" "0000269016" "04214" "00373807" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269049" "04214" "00373840" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269050" "04214" "00373841" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269051" "04214" "00373842" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270477" "05415" "00375266" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000270626" "04214" "00375412" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270627" "04214" "00375413" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270628" "04214" "00375414" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270632" "04214" "00375418" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270633" "04214" "00375419" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270636" "04214" "00375422" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270637" "04214" "00375423" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270646" "04214" "00375432" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270647" "04214" "00375433" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000274070" "04214" "00380215" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000275450" "04214" "00381608" "00000" "Isolated (sporadic)" "" "" "38y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000276094" "04214" "00382245" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276155" "04214" "00382306" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276355" "04214" "00382506" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276356" "04214" "00382507" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Generalized retinal dystrophy (non-syndromic)" "" "0000276357" "04214" "00382508" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Vitreoretinopathy unspecified" "" "0000276358" "04214" "00382509" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277573" "04214" "00383788" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000279189" "04214" "00385393" "00000" "Isolated (sporadic)" "37y" "37" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000280523" "04214" "00386723" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280687" "04214" "00386887" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280718" "04214" "00386918" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000281236" "04214" "00387673" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Childhood retinal disease" "" "0000282301" "04214" "00388760" "00000" "Familial, autosomal recessive" "34y" "age at genetic diagnosis mentioned" "" "26y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282311" "04214" "00388770" "00000" "Familial, autosomal recessive" "37y" "age at genetic diagnosis mentioned" "" "33y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282312" "04214" "00388771" "00000" "Familial, autosomal recessive" "37y" "age at genetic diagnosis mentioned" "" "33y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282323" "04214" "00388782" "00000" "Familial, autosomal recessive" "29y" "age at genetic diagnosis mentioned" "" "24y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282324" "04214" "00388783" "00000" "Familial, autosomal recessive" "15y" "age at genetic diagnosis mentioned" "" "10y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282442" "04214" "00388901" "00000" "Familial, autosomal recessive" "62y" "age at genetic diagnosis mentioned" "" "61y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282657" "04214" "00389116" "00000" "Familial, autosomal recessive" "65y" "age at genetic diagnosis mentioned" "" "57y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000282821" "04214" "00389280" "00000" "Familial, autosomal recessive" "53y" "age at genetic diagnosis mentioned" "" "46y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000283062" "04214" "00389521" "00000" "Familial, autosomal recessive" "10y" "age at genetic diagnosis mentioned" "" "9y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000283736" "04214" "00390198" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284830" "04214" "00391493" "00000" "Di-genic" "23y" "congenital sensorineural deafness, night blindness worsening for 5 years" "1y" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000287897" "04214" "00394694" "00000" "Familial, autosomal recessive" "54y" "" "6y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287898" "04214" "00394695" "00000" "Familial, autosomal recessive" "53y" "" "15y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287899" "04214" "00394696" "00000" "Familial, autosomal recessive" "31y" "" "1y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287900" "04214" "00394697" "00000" "Familial, autosomal recessive" "59y" "" "14y" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287901" "04214" "00394698" "00000" "Familial, autosomal recessive" "43y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000288794" "04214" "00395596" "00000" "Familial, autosomal recessive" "" "exotropia, macular atrophy, posterior subcapsular cataract, rod-cone dystrophy, congenital sensorineural hearing impairment, obesity, hypothyroidism, hyperuricemia, vitamin d deficiency, babinski sign, global developmental delay, hyperactivity, tension-type headache, neonatal hypotonia, asthma, overgrowth, gynecomastia, nevus" "" "" "" "" "" "" "" "" "Atypical Usher syndrome I" "Alstrom-like syndrome" "" "0000289125" "04214" "00395963" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289382" "04214" "00396220" "00000" "Familial, autosomal recessive" "20y" "2 year: nystagmus" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289384" "04214" "00396222" "00000" "Familial, autosomal recessive" "8y" "3 months: no fixation, no pacing, no eye contact" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289392" "04214" "00396230" "00000" "Familial, autosomal recessive" "58y2m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic acceleration" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289393" "04214" "00396231" "00000" "Familial, autosomal recessive" "27y5m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289421" "04214" "00396259" "00000" "Familial, autosomal recessive" "58y2m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic acceleration" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289422" "04214" "00396260" "00000" "Familial, autosomal recessive" "27y5m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289446" "04214" "00396284" "00000" "Familial, autosomal recessive" "35y4m" "typical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289447" "04214" "00396285" "00000" "Familial, autosomal recessive" "15y8m" "typical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289448" "04214" "00396286" "00000" "Familial, autosomal recessive" "22y7m" "typical vestibular findings, Profound hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289449" "04214" "00396287" "00000" "Familial, autosomal recessive" "23y2m" "typical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000294926" "04214" "00402163" "00000" "Familial, autosomal recessive" "18y" "age of night blindness onset: 17y, age of hearing loss onset: 1y, best corrected visual acuity right/left eye: 0.6/0.8" "" "" "" "" "" "" "" "" "Usher syndrome type 2A" "" "" "0000303050" "04214" "00410960" "00000" "Unknown" "12y" "" "5m" "" "not react to sounds" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000303051" "04214" "00410961" "00000" "Unknown" "" "congenital deafness without vestibular dysfunction. Night blindness since adolescence" "" "" "" "" "" "" "" "" "Atypical Usher Syndrome 1 (USH1)" "Usher syndrome type 2 (USH2)" "" "0000303052" "04214" "00410962" "00000" "Unknown" "35y" "congenitally deaf with vestibular dysfunction presented with visual acuity of 6/12 in both eyes. Fundus examination revealed findings typical of retinitis pigmentosa with foveal preservation of photoreceptor layer." "" "" "" "" "" "" "" "" "" "Usher syndrome type 1D (USH1D)" "" "0000303053" "04214" "00410963" "00000" "Unknown" "28y" "" "11y" "" "night blindness" "" "" "" "" "" "" "Usher syndrome type 1D (USH1D)" "" "0000303054" "04214" "00410964" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1D (USH1D)" "" "0000318955" "00198" "00428009" "00006" "Familial, autosomal recessive" "01y" "bilateral profound sensorineural hearing loss" "" "" "" "" "" "" "" "" "DFNB12" "hearing loss" "" "0000326713" "00318" "00000102" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000326714" "00318" "00000102" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000330591" "05086" "00441151" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330592" "05086" "00441152" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330593" "05086" "00441153" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330594" "05086" "00441154" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330595" "05086" "00441155" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330596" "05086" "00441156" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330597" "05086" "00441157" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330598" "05086" "00441158" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330599" "05086" "00441159" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330600" "05086" "00441160" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330601" "05086" "00441161" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330602" "05086" "00441162" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330603" "05086" "00441163" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330604" "05086" "00441164" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330605" "05086" "00441165" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330899" "05086" "00441459" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330920" "05086" "00441482" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000331054" "05086" "00441645" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000336602" "00198" "00447403" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336642" "00198" "00447443" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336695" "00198" "00447496" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336696" "00198" "00447497" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336730" "00198" "00447531" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336833" "00198" "00447634" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "unclear diagnosis" "" "0000342114" "05103" "00453449" "03544" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 866 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000007" "00000007" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000033" "00000033" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000067" "00000067" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000068" "00000068" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000075" "00000075" "1" "00004" "" "2012-05-11 13:19:00" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000078" "00000078" "1" "00004" "" "2012-05-11 13:19:04" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000079" "00000079" "1" "00004" "" "2012-05-11 13:19:05" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000080" "00000080" "1" "00004" "" "2012-05-11 13:19:05" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000081" "00000081" "1" "00004" "" "2012-05-11 13:19:05" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000102" "00000102" "1" "00004" "" "2012-05-11 13:19:45" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000002906" "00003000" "3" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000058985" "00059022" "1" "01496" "01496" "2016-02-15 19:01:02" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059103" "00059133" "1" "01551" "01551" "2016-02-26 16:50:02" "" "" "SEQ;SEQ-NG-I" "DNA;RNA;protein" "" "" "0000059135" "00059159" "1" "01551" "01551" "2016-02-29 11:35:29" "00006" "2016-04-30 16:54:29" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060226" "00060241" "1" "01542" "01542" "2016-03-16 08:55:31" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060227" "00060242" "1" "01542" "01542" "2016-03-16 09:07:37" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000080102" "00080023" "1" "01740" "01740" "2016-09-01 12:19:13" "" "" "SEQ-NG" "DNA" "" "" "0000080106" "00080027" "1" "01740" "01740" "2016-09-01 12:43:51" "" "" "SEQ-NG" "DNA" "" "" "0000080116" "00080037" "1" "01740" "01740" "2016-09-01 13:36:06" "" "" "SEQ-NG" "DNA" "" "" "0000081196" "00081084" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081436" "00081324" "1" "01779" "01779" "2016-10-06 08:57:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000081437" "00081326" "1" "01779" "01779" "2016-10-06 09:18:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000081513" "00081400" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081514" "00081401" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000145015" "00144156" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000166581" "00165702" "1" "02417" "02417" "2014-12-10 14:49:29" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166582" "00165703" "1" "02417" "02417" "2014-12-11 15:15:46" "00110" "2014-12-11 15:17:11" "SEQ" "DNA" "" "" "0000166583" "00165704" "1" "02416" "02416" "2010-03-01 15:19:43" "00110" "2010-09-13 15:12:34" "SEQ" "DNA" "" "" "0000166584" "00165705" "1" "02416" "02416" "2010-03-01 15:19:43" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166585" "00165706" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166586" "00165707" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166587" "00165708" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166588" "00165709" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166589" "00165710" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166590" "00165711" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166591" "00165712" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:14:02" "SEQ" "DNA" "" "" "0000166592" "00165713" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:39" "SEQ" "DNA" "" "" "0000166593" "00165714" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:39" "SEQ" "DNA" "" "" "0000166594" "00165715" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:39" "SEQ" "DNA" "" "" "0000166595" "00165716" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166596" "00165717" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166597" "00165718" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2013-02-14 17:40:19" "SEQ" "DNA" "" "" "0000166598" "00165719" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166599" "00165720" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2013-02-14 17:27:08" "SEQ" "DNA" "" "" "0000166600" "00165721" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:48:24" "SEQ" "DNA" "" "" "0000166601" "00165722" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:48:24" "SEQ" "DNA" "" "" "0000166602" "00165723" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:48:24" "SEQ" "DNA" "" "" "0000166603" "00165724" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-09-13 15:12:34" "SEQ" "DNA" "" "" "0000166604" "00165725" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-09-14 11:43:45" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000166605" "00165726" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:18:17" "SEQ" "DNA" "" "" "0000166606" "00165727" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-09-13 15:12:34" "SEQ" "DNA" "" "" "0000166607" "00165728" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166608" "00165729" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166609" "00165730" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-09-14 11:45:32" "SEQ" "DNA" "" "" "0000166610" "00165731" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-09-13 15:12:34" "SEQ" "DNA" "" "" "0000166611" "00165732" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-09-14 11:43:47" "SEQ" "DNA" "" "" "0000166612" "00165733" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166613" "00165734" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-09-13 15:12:34" "SEQ" "DNA" "" "" "0000166614" "00165735" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166615" "00165736" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-09-13 15:12:35" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000166616" "00165737" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-09-13 15:12:35" "SEQ" "DNA" "" "" "0000166617" "00165738" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166618" "00165739" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166619" "00165740" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166620" "00165741" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166621" "00165742" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166622" "00165743" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166623" "00165744" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166624" "00165745" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166625" "00165746" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:06" "SEQ" "DNA" "" "" "0000166626" "00165747" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166627" "00165748" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166628" "00165749" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166629" "00165750" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166630" "00165751" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:06" "minigene;RT-PCR;SEQ" "DNA" "" "" "0000166631" "00165752" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166632" "00165753" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166633" "00165754" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166634" "00165755" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166635" "00165756" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166636" "00165757" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166637" "00165758" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166638" "00165759" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166639" "00165760" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166640" "00165761" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166641" "00165762" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166642" "00165763" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166643" "00165764" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166644" "00165765" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166645" "00165766" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166646" "00165767" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166647" "00165768" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166648" "00165769" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166649" "00165770" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166650" "00165771" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166651" "00165772" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166652" "00165773" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166653" "00165774" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166654" "00165775" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166655" "00165776" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166656" "00165777" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166657" "00165778" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166658" "00165779" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:06" "SEQ" "DNA" "" "" "0000166659" "00165780" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166660" "00165781" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166661" "00165782" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:06" "SEQ" "DNA" "" "" "0000166662" "00165783" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166663" "00165784" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166664" "00165785" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166665" "00165786" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166666" "00165787" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166667" "00165788" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:06" "SEQ" "DNA" "" "" "0000166668" "00165789" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:06" "SEQ" "DNA" "" "" "0000166669" "00165790" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:06" "SEQ" "DNA" "" "" "0000166670" "00165791" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:06" "SEQ" "DNA" "" "" "0000166671" "00165792" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:06" "SEQ" "DNA" "" "" "0000166672" "00165793" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:17:45" "SEQ" "DNA" "" "" "0000166673" "00165794" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:17:45" "SEQ" "DNA" "" "" "0000166674" "00165795" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166675" "00165796" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166676" "00165797" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166677" "00165798" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:12:15" "SEQ" "DNA" "" "" "0000166678" "00165799" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:12:15" "SEQ" "DNA" "" "" "0000166679" "00165800" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:12:15" "SEQ" "DNA" "" "" "0000166680" "00165801" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:12:15" "SEQ" "DNA" "" "" "0000166681" "00165802" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:12:15" "SEQ" "DNA" "" "" "0000166682" "00165803" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:12:15" "SEQ" "DNA" "" "" "0000166683" "00165804" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:12:15" "SEQ" "DNA" "" "" "0000166684" "00165805" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:07:42" "SEQ" "DNA" "" "" "0000166685" "00165806" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:07:42" "SEQ" "DNA" "" "" "0000166686" "00165807" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:07:42" "SEQ" "DNA" "" "" "0000166687" "00165808" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-12-30 11:07:42" "SEQ" "DNA" "" "" "0000166688" "00165809" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166689" "00165810" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166690" "00165811" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166691" "00165812" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166692" "00165813" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166693" "00165814" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166694" "00165815" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166695" "00165816" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166696" "00165817" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166697" "00165818" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166698" "00165819" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166699" "00165820" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:31" "SEQ" "DNA" "" "" "0000166700" "00165821" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166701" "00165822" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166702" "00165823" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166703" "00165824" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166704" "00165825" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166705" "00165826" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166706" "00165827" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166707" "00165828" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:39" "SEQ" "DNA" "" "" "0000166708" "00165829" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166709" "00165830" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166710" "00165831" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166711" "00165832" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166712" "00165833" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166713" "00165834" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166714" "00165835" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166715" "00165836" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166716" "00165837" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166717" "00165838" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:19:45" "SEQ" "DNA" "" "" "0000166718" "00165839" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:19:45" "SEQ" "DNA" "" "" "0000166719" "00165840" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:18:17" "SEQ" "DNA" "" "" "0000166720" "00165841" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:18:17" "SEQ" "DNA" "" "" "0000166721" "00165842" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166722" "00165843" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166723" "00165844" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166724" "00165845" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166725" "00165846" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166726" "00165847" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166727" "00165848" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:18:17" "SEQ" "DNA" "" "" "0000166728" "00165849" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166729" "00165850" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166730" "00165851" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166731" "00165852" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166732" "00165853" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166733" "00165854" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166734" "00165855" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166735" "00165856" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-07-07 17:46:00" "SEQ" "DNA" "" "" "0000166736" "00165857" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166737" "00165858" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166738" "00165859" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166739" "00165860" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166740" "00165861" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166741" "00165862" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166742" "00165863" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166743" "00165864" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166744" "00165865" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166745" "00165866" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166746" "00165867" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:06:46" "SEQ" "DNA" "" "" "0000166747" "00165868" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:06:46" "SEQ" "DNA" "" "" "0000166748" "00165869" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166749" "00165870" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166750" "00165871" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:07:56" "SEQ" "DNA" "" "" "0000166751" "00165872" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166752" "00165873" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2014-03-13 12:15:17" "SEQ" "DNA" "" "" "0000166753" "00165874" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166754" "00165875" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-11-10 11:15:23" "SEQ" "DNA" "" "" "0000166755" "00165876" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166756" "00165877" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166757" "00165878" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166758" "00165879" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:20:06" "SEQ" "DNA" "" "" "0000166759" "00165880" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166760" "00165881" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:07:56" "SEQ" "DNA" "" "" "0000166761" "00165882" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:07:56" "SEQ" "DNA" "" "" "0000166762" "00165883" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:07:56" "SEQ" "DNA" "" "" "0000166763" "00165884" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:07:56" "SEQ" "DNA" "" "" "0000166764" "00165885" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166765" "00165886" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166766" "00165887" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166767" "00165888" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-04-06 15:22:43" "SEQ" "DNA" "" "" "0000166768" "00165889" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166769" "00165890" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166770" "00165891" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000166771" "00165892" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166772" "00165893" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166773" "00165894" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166774" "00165895" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166775" "00165896" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166776" "00165897" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166777" "00165898" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166778" "00165899" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166779" "00165900" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-09-04 12:19:17" "SEQ" "DNA" "" "" "0000166780" "00165901" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-09-04 12:19:17" "SEQ" "DNA" "" "" "0000166781" "00165902" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-09-04 12:19:17" "SEQ" "DNA" "" "" "0000166782" "00165903" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-09-04 12:19:17" "SEQ" "DNA" "" "" "0000166783" "00165904" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-09-04 12:19:17" "SEQ" "DNA" "" "" "0000166784" "00165905" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-09-04 12:19:17" "SEQ" "DNA" "" "" "0000166785" "00165906" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2012-09-04 12:19:17" "SEQ" "DNA" "" "" "0000166786" "00165907" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166787" "00165908" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166788" "00165909" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-10-15 15:59:40" "SEQ" "DNA" "" "" "0000166790" "00165911" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-09-14 12:19:58" "SEQ" "DNA" "" "" "0000166791" "00165912" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166794" "00165915" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2010-10-15 17:18:59" "SEQ" "DNA" "" "" "0000166800" "00165921" "1" "02416" "02416" "2010-03-01 15:19:44" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167126" "00166247" "1" "02416" "02416" "2012-01-09 15:30:14" "00110" "2012-09-04 12:16:12" "SEQ" "DNA" "" "" "0000167348" "00166469" "1" "02416" "02416" "2010-09-14 12:16:56" "00110" "2010-09-14 12:18:14" "minigene;SEQ" "DNA" "" "" "0000167350" "00166471" "1" "02416" "02416" "2010-09-22 19:39:33" "00110" "2010-09-22 19:41:52" "SEQ" "DNA" "" "" "0000167351" "00166472" "1" "02416" "02416" "2010-10-15 16:35:51" "00110" "2011-01-26 14:56:21" "SEQ" "DNA" "" "" "0000167352" "00166473" "1" "02416" "02416" "2010-10-15 17:09:35" "00110" "2011-01-26 14:56:21" "SEQ" "DNA" "" "" "0000167360" "00166481" "1" "02416" "02416" "2010-10-28 16:56:48" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167361" "00166482" "1" "02416" "02416" "2010-10-28 17:00:38" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167362" "00166483" "1" "02416" "02416" "2010-10-28 17:12:02" "00110" "2012-04-06 15:09:38" "SEQ" "DNA" "" "" "0000167363" "00166484" "1" "02416" "02416" "2010-10-28 17:13:32" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167364" "00166485" "1" "02416" "02416" "2010-10-28 17:23:52" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167365" "00166486" "1" "02416" "02416" "2010-10-28 17:33:07" "00110" "2015-02-09 17:25:35" "SEQ" "DNA" "" "" "0000167366" "00166487" "1" "02416" "02416" "2010-10-29 15:31:09" "00110" "2012-04-06 15:19:27" "SEQ" "DNA" "" "" "0000167367" "00166488" "1" "02416" "02416" "2010-10-29 17:22:02" "00110" "2012-04-06 15:20:06" "SEQ" "DNA" "" "" "0000167368" "00166489" "1" "02417" "02417" "2010-11-12 11:50:42" "00110" "2013-03-11 12:20:31" "minigene;RT-PCR;SEQ" "DNA" "" "" "0000167378" "00166499" "1" "02416" "02416" "2011-02-08 17:39:25" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000167379" "00166500" "1" "02416" "02416" "2011-03-29 16:27:53" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167380" "00166501" "1" "02416" "02416" "2011-03-29 16:29:24" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167381" "00166502" "1" "02416" "02416" "2011-03-29 16:32:30" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167382" "00166503" "1" "02416" "02416" "2011-03-29 16:33:42" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167383" "00166504" "1" "02416" "02416" "2011-03-29 16:36:50" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167384" "00166505" "1" "02416" "02416" "2011-03-29 16:38:14" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167385" "00166506" "1" "02416" "02416" "2011-03-29 17:13:53" "00110" "2015-02-09 17:19:06" "SEQ" "DNA" "" "" "0000167386" "00166507" "1" "02416" "02416" "2011-03-29 17:15:18" "00110" "2015-02-09 17:19:06" "SEQ" "DNA" "" "" "0000167387" "00166508" "1" "02416" "02416" "2011-03-29 17:16:40" "00110" "2015-02-09 17:19:06" "SEQ" "DNA" "" "" "0000167388" "00166509" "1" "02416" "02416" "2011-03-29 17:18:03" "00110" "2015-02-09 17:19:06" "SEQ" "DNA" "" "" "0000167395" "00166516" "1" "02419" "02419" "2011-05-17 09:29:42" "00110" "2013-02-08 16:59:37" "SEQ" "DNA" "" "" "0000167397" "00166518" "1" "02416" "02416" "2011-05-25 13:48:57" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167400" "00166521" "1" "02416" "02416" "2011-05-25 16:12:37" "00110" "2011-08-23 11:23:46" "SEQ" "DNA" "" "" "0000167402" "00166523" "1" "02416" "02416" "2011-05-25 16:29:03" "00110" "2012-04-06 15:20:06" "SEQ" "DNA" "" "" "0000167403" "00166524" "1" "02416" "02416" "2011-05-25 16:50:13" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167406" "00166527" "1" "02416" "02416" "2011-05-26 09:37:07" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167411" "00166532" "1" "02416" "02416" "2011-05-26 11:29:02" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167443" "00166564" "1" "02416" "02416" "2011-07-19 17:47:11" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000167444" "00166565" "1" "02416" "02416" "2011-07-19 17:53:16" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000167446" "00166567" "1" "02416" "02416" "2011-07-20 14:15:37" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000167447" "00166568" "1" "02416" "02416" "2011-07-20 14:22:04" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000167470" "00166591" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167472" "00166593" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167477" "00166598" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167479" "00166600" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167481" "00166602" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167483" "00166604" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167486" "00166607" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167490" "00166611" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167491" "00166612" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167492" "00166613" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167493" "00166614" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167495" "00166616" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167497" "00166618" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167498" "00166619" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167499" "00166620" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167505" "00166626" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167506" "00166627" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167507" "00166628" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167509" "00166630" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167510" "00166631" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2013-02-14 17:45:36" "SEQ" "DNA" "" "" "0000167511" "00166632" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167512" "00166633" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167513" "00166634" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167514" "00166635" "1" "02419" "02419" "2011-09-12 16:36:04" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167515" "00166636" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167518" "00166639" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167519" "00166640" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167520" "00166641" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167521" "00166642" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167524" "00166645" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167526" "00166647" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167527" "00166648" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167528" "00166649" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167529" "00166650" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2013-02-14 17:38:04" "SEQ" "DNA" "" "" "0000167530" "00166651" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167531" "00166652" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167532" "00166653" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167533" "00166654" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167535" "00166656" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167536" "00166657" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167537" "00166658" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167538" "00166659" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2013-02-14 17:45:36" "SEQ" "DNA" "" "" "0000167543" "00166664" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167545" "00166666" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167547" "00166668" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:41" "SEQ" "DNA" "" "" "0000167551" "00166672" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167552" "00166673" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167553" "00166674" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167554" "00166675" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167555" "00166676" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167557" "00166678" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167561" "00166682" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167563" "00166684" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167564" "00166685" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167565" "00166686" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167566" "00166687" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167571" "00166692" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167575" "00166696" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167576" "00166697" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167577" "00166698" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167578" "00166699" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167579" "00166700" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167580" "00166701" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167581" "00166702" "1" "02419" "02419" "2011-09-12 16:33:22" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167582" "00166703" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167586" "00166707" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167588" "00166709" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167589" "00166710" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167591" "00166712" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167593" "00166714" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167594" "00166715" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167595" "00166716" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167599" "00166720" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167602" "00166723" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167605" "00166726" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167609" "00166730" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167612" "00166733" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167614" "00166735" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167615" "00166736" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167616" "00166737" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167621" "00166742" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167623" "00166744" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167624" "00166745" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167626" "00166747" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167627" "00166748" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167629" "00166750" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167632" "00166753" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167634" "00166755" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167637" "00166758" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:40" "SEQ" "DNA" "" "" "0000167648" "00166769" "1" "02416" "02416" "2011-10-07 15:34:11" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167649" "00166770" "1" "02416" "02416" "2011-10-07 15:35:58" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167650" "00166771" "1" "02416" "02416" "2011-10-07 15:37:12" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167651" "00166772" "1" "02416" "02416" "2011-10-07 15:38:33" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167652" "00166773" "1" "02416" "02416" "2011-10-07 15:39:28" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167653" "00166774" "1" "02416" "02416" "2011-10-07 15:40:35" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167654" "00166775" "1" "02416" "02416" "2011-10-07 15:41:39" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167655" "00166776" "1" "02416" "02416" "2011-10-07 15:47:19" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167656" "00166777" "1" "02416" "02416" "2011-10-07 15:48:52" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167657" "00166778" "1" "02416" "02416" "2011-10-07 15:50:37" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167658" "00166779" "1" "02416" "02416" "2011-10-07 15:51:49" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167659" "00166780" "1" "02416" "02416" "2011-10-07 15:53:08" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167660" "00166781" "1" "02416" "02416" "2011-10-07 15:57:06" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167661" "00166782" "1" "02416" "02416" "2011-10-07 15:58:24" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167662" "00166783" "1" "02416" "02416" "2011-10-07 15:59:32" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167663" "00166784" "1" "02416" "02416" "2011-10-07 16:18:18" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167664" "00166785" "1" "02416" "02416" "2011-10-07 16:22:56" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167665" "00166786" "1" "02416" "02416" "2011-10-07 16:24:33" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167666" "00166787" "1" "02416" "02416" "2011-10-07 16:28:48" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167667" "00166788" "1" "02416" "02416" "2011-10-07 16:29:50" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167668" "00166789" "1" "02416" "02416" "2011-10-07 16:30:38" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167669" "00166790" "1" "02416" "02416" "2011-10-07 16:39:26" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167670" "00166791" "1" "02416" "02416" "2011-10-07 16:40:42" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167671" "00166792" "1" "02416" "02416" "2011-10-07 16:47:13" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167672" "00166793" "1" "02416" "02416" "2011-10-07 16:48:50" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167673" "00166794" "1" "02416" "02416" "2011-10-07 16:49:49" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167674" "00166795" "1" "02416" "02416" "2011-10-07 16:51:24" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167675" "00166796" "1" "02416" "02416" "2011-10-07 16:52:31" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167676" "00166797" "1" "02416" "02416" "2011-10-07 16:54:37" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167677" "00166798" "1" "02416" "02416" "2011-10-07 16:58:56" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167678" "00166799" "1" "02416" "02416" "2011-10-07 17:00:05" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167679" "00166800" "1" "02416" "02416" "2011-10-07 17:01:02" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167680" "00166801" "1" "02416" "02416" "2011-10-07 17:02:50" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167681" "00166802" "1" "02416" "02416" "2011-10-07 17:13:29" "00110" "2012-04-06 15:21:36" "SEQ" "DNA" "" "" "0000167682" "00166803" "1" "02416" "02416" "2011-10-07 17:14:28" "00110" "2012-04-06 15:21:36" "SEQ" "DNA" "" "" "0000167683" "00166804" "1" "02416" "02416" "2011-10-07 17:15:20" "00110" "2012-04-06 15:21:36" "SEQ" "DNA" "" "" "0000167684" "00166805" "1" "02416" "02416" "2011-10-07 17:16:16" "00110" "2012-04-06 15:21:36" "SEQ" "DNA" "" "" "0000167685" "00166806" "1" "02416" "02416" "2011-10-07 17:21:16" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167686" "00166807" "1" "02416" "02416" "2011-10-07 17:22:20" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167687" "00166808" "1" "02416" "02416" "2011-10-07 17:23:07" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167688" "00166809" "1" "02416" "02416" "2011-10-07 17:23:58" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167689" "00166810" "1" "02416" "02416" "2011-10-07 17:24:47" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167690" "00166811" "1" "02416" "02416" "2011-10-07 17:25:33" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167691" "00166812" "1" "02416" "02416" "2011-10-07 17:26:15" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167692" "00166813" "1" "02416" "02416" "2011-10-07 17:28:45" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167693" "00166814" "1" "02416" "02416" "2011-10-07 17:29:51" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167694" "00166815" "1" "02416" "02416" "2011-10-07 17:30:59" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167695" "00166816" "1" "02416" "02416" "2011-10-07 17:32:00" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167696" "00166817" "1" "02416" "02416" "2011-10-10 09:20:11" "00110" "2012-04-06 15:07:56" "SEQ" "DNA" "" "" "0000167697" "00166818" "1" "02416" "02416" "2011-10-10 09:21:47" "00110" "2012-04-06 15:07:56" "SEQ" "DNA" "" "" "0000167698" "00166819" "1" "02416" "02416" "2011-10-10 09:22:40" "00110" "2012-04-06 15:07:56" "SEQ" "DNA" "" "" "0000167699" "00166820" "1" "02416" "02416" "2011-10-10 09:37:58" "00110" "2012-04-25 10:11:29" "SEQ" "DNA" "" "" "0000167700" "00166821" "1" "02416" "02416" "2011-10-10 09:38:58" "00110" "2012-04-25 10:11:29" "SEQ" "DNA" "" "" "0000167701" "00166822" "1" "02416" "02416" "2011-10-10 09:39:59" "00110" "2012-04-25 10:11:29" "SEQ" "DNA" "" "" "0000167702" "00166823" "1" "02416" "02416" "2011-10-10 09:41:18" "00110" "2012-04-25 10:11:29" "SEQ" "DNA" "" "" "0000167703" "00166824" "1" "02416" "02416" "2011-10-10 09:42:03" "00110" "2012-04-25 10:11:29" "SEQ" "DNA" "" "" "0000167704" "00166825" "1" "02416" "02416" "2011-10-10 09:44:47" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167705" "00166826" "1" "02416" "02416" "2011-10-10 09:45:47" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167706" "00166827" "1" "02416" "02416" "2011-10-10 09:46:43" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167707" "00166828" "1" "02416" "02416" "2011-10-10 09:47:43" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167708" "00166829" "1" "02416" "02416" "2011-10-10 09:49:37" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167709" "00166830" "1" "02416" "02416" "2011-10-10 09:51:06" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167710" "00166831" "1" "02416" "02416" "2011-10-10 09:52:27" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167711" "00166832" "1" "02416" "02416" "2011-10-10 09:53:26" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167712" "00166833" "1" "02416" "02416" "2011-10-10 09:54:59" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167713" "00166834" "1" "02416" "02416" "2011-10-10 09:55:52" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167714" "00166835" "1" "02416" "02416" "2011-10-10 09:56:39" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167715" "00166836" "1" "02416" "02416" "2011-10-10 09:57:39" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167716" "00166837" "1" "02416" "02416" "2011-10-10 09:58:27" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167717" "00166838" "1" "02416" "02416" "2011-10-10 10:01:17" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167718" "00166839" "1" "02416" "02416" "2011-10-10 10:02:24" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167719" "00166840" "1" "02416" "02416" "2011-10-10 10:04:33" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167720" "00166841" "1" "02416" "02416" "2011-10-10 10:05:50" "00110" "2015-02-10 16:50:56" "SEQ" "DNA" "" "" "0000167721" "00166842" "1" "02416" "02416" "2011-10-10 10:39:15" "" "" "SEQ" "DNA" "" "" "0000167722" "00166843" "1" "02416" "02416" "2011-10-10 10:40:09" "" "" "SEQ" "DNA" "" "" "0000167723" "00166844" "1" "02416" "02416" "2011-10-10 10:40:52" "" "" "SEQ" "DNA" "" "" "0000167724" "00166845" "1" "02416" "02416" "2011-10-10 10:41:57" "" "" "SEQ" "DNA" "" "" "0000167725" "00166846" "1" "02416" "02416" "2011-10-10 10:43:05" "" "" "SEQ" "DNA" "" "" "0000167726" "00166847" "1" "02416" "02416" "2011-10-10 10:43:54" "" "" "SEQ" "DNA" "" "" "0000167727" "00166848" "1" "02416" "02416" "2011-10-10 10:55:23" "00110" "2012-04-06 15:19:45" "SEQ" "DNA" "" "" "0000167728" "00166849" "1" "02416" "02416" "2011-10-10 10:56:28" "00110" "2012-04-06 15:19:45" "SEQ" "DNA" "" "" "0000167729" "00166850" "1" "02416" "02416" "2011-10-10 10:57:14" "00110" "2012-04-06 15:19:45" "SEQ" "DNA" "" "" "0000167730" "00166851" "1" "02416" "02416" "2011-10-10 11:01:50" "00110" "2012-04-06 15:20:22" "SEQ" "DNA" "" "" "0000167731" "00166852" "1" "02416" "02416" "2011-10-10 11:02:37" "00110" "2012-04-06 15:20:22" "SEQ" "DNA" "" "" "0000167732" "00166853" "1" "02416" "02416" "2011-10-10 11:03:19" "00110" "2012-04-06 15:20:22" "SEQ" "DNA" "" "" "0000167733" "00166854" "1" "02416" "02416" "2011-10-10 11:09:41" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167734" "00166855" "1" "02416" "02416" "2011-10-10 11:10:47" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167735" "00166856" "1" "02416" "02416" "2011-10-10 11:12:02" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167736" "00166857" "1" "02416" "02416" "2011-10-10 11:12:50" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167737" "00166858" "1" "02416" "02416" "2011-10-10 11:17:23" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167738" "00166859" "1" "02416" "02416" "2011-10-10 11:18:23" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167739" "00166860" "1" "02416" "02416" "2011-10-10 11:19:09" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167740" "00166861" "1" "02416" "02416" "2011-10-10 11:23:06" "00110" "2012-04-06 15:21:55" "SEQ" "DNA" "" "" "0000167741" "00166862" "1" "02416" "02416" "2011-10-10 11:23:50" "00110" "2012-04-06 15:21:55" "SEQ" "DNA" "" "" "0000167742" "00166863" "1" "02416" "02416" "2011-10-10 11:24:40" "00110" "2012-04-06 15:21:55" "SEQ" "DNA" "" "" "0000167743" "00166864" "1" "02416" "02416" "2011-10-10 11:25:33" "00110" "2012-04-06 15:21:55" "SEQ" "DNA" "" "" "0000167744" "00166865" "1" "02416" "02416" "2011-10-10 11:27:56" "00110" "2012-04-06 15:21:55" "SEQ" "DNA" "" "" "0000167745" "00166866" "1" "02416" "02416" "2011-10-10 11:29:00" "00110" "2012-04-06 15:21:55" "SEQ" "DNA" "" "" "0000167746" "00166867" "1" "02416" "02416" "2011-10-10 11:33:14" "00110" "2012-04-06 15:22:09" "SEQ" "DNA" "" "" "0000167747" "00166868" "1" "02416" "02416" "2011-10-10 11:43:28" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167748" "00166869" "1" "02416" "02416" "2011-10-10 11:45:58" "00110" "2014-03-13 12:15:17" "SEQ" "DNA" "" "" "0000167749" "00166870" "1" "02416" "02416" "2011-10-10 11:48:37" "00110" "2014-03-13 12:15:17" "SEQ" "DNA" "" "" "0000167750" "00166871" "1" "02416" "02416" "2011-10-10 11:51:17" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167751" "00166872" "1" "02416" "02416" "2011-10-10 11:53:39" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167752" "00166873" "1" "02416" "02416" "2011-10-10 11:58:05" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167753" "00166874" "1" "02416" "02416" "2011-10-10 14:23:34" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167754" "00166875" "1" "02416" "02416" "2011-10-10 14:25:52" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167755" "00166876" "1" "02416" "02416" "2011-10-10 14:26:58" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167756" "00166877" "1" "02416" "02416" "2011-10-10 14:27:59" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167757" "00166878" "1" "02416" "02416" "2011-10-10 14:28:59" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167758" "00166879" "1" "02416" "02416" "2011-10-10 14:33:03" "00110" "2012-04-06 15:22:09" "SEQ" "DNA" "" "" "0000167759" "00166880" "1" "02416" "02416" "2011-10-10 14:43:41" "00110" "2013-02-08 17:13:32" "SEQ" "DNA" "" "" "0000167760" "00166881" "1" "02416" "02416" "2011-10-10 14:51:33" "00110" "2012-04-06 15:08:29" "SEQ" "DNA" "" "" "0000167761" "00166882" "1" "02416" "02416" "2011-10-10 14:53:06" "00110" "2012-04-06 15:08:29" "SEQ" "DNA" "" "" "0000167762" "00166883" "1" "02416" "02416" "2011-10-10 14:55:18" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167763" "00166884" "1" "02416" "02416" "2011-10-10 15:00:35" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167779" "00166900" "1" "02416" "02416" "2012-03-16 09:13:51" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167916" "00167037" "1" "02416" "02416" "2012-04-25 10:28:22" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167917" "00167038" "1" "02416" "02416" "2012-04-25 14:26:01" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167918" "00167039" "1" "02416" "02416" "2012-04-25 14:27:08" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167919" "00167040" "1" "02416" "02416" "2012-04-25 14:28:03" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167920" "00167041" "1" "02416" "02416" "2012-04-25 14:37:54" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167921" "00167042" "1" "02416" "02416" "2012-04-25 14:38:53" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167922" "00167043" "1" "02416" "02416" "2012-04-25 14:39:40" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167923" "00167044" "1" "02416" "02416" "2012-04-25 14:40:32" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167924" "00167045" "1" "02416" "02416" "2012-04-25 14:42:40" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167925" "00167046" "1" "02416" "02416" "2012-07-23 09:36:22" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167926" "00167047" "1" "02416" "02416" "2012-07-23 09:37:36" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167934" "00167055" "1" "02416" "02416" "2013-02-08 17:45:56" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167953" "00167074" "1" "02416" "02416" "2013-01-09 11:32:01" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167954" "00167075" "1" "02416" "02416" "2013-01-09 11:42:13" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167955" "00167076" "1" "02416" "02416" "2013-01-09 11:45:11" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167956" "00167077" "1" "02416" "02416" "2013-01-09 11:47:19" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167957" "00167078" "1" "02416" "02416" "2013-01-09 11:49:15" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167958" "00167079" "1" "02416" "02416" "2013-01-09 12:02:28" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167959" "00167080" "1" "02416" "02416" "2013-01-09 12:08:29" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167960" "00167081" "1" "02416" "02416" "2013-01-09 12:09:55" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167961" "00167082" "1" "02416" "02416" "2013-01-09 12:11:22" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167962" "00167083" "1" "02416" "02416" "2013-01-09 12:13:11" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167963" "00167084" "1" "02416" "02416" "2013-01-09 14:18:52" "00110" "2013-01-09 14:26:27" "SEQ" "DNA" "" "" "0000167964" "00167085" "1" "02416" "02416" "2013-01-09 14:19:43" "00110" "2013-01-09 14:24:54" "SEQ" "DNA" "" "" "0000167965" "00167086" "1" "02416" "02416" "2013-01-09 14:36:47" "00110" "2014-01-30 14:18:51" "SEQ" "DNA" "" "" "0000167966" "00167087" "1" "02416" "02416" "2013-01-09 14:42:15" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167967" "00167088" "1" "02416" "02416" "2013-01-09 14:51:11" "" "" "SEQ" "DNA" "" "" "0000167968" "00167089" "1" "02416" "02416" "2013-01-09 14:56:16" "" "" "SEQ" "DNA" "" "" "0000167969" "00167090" "1" "02416" "02416" "2013-01-09 15:03:26" "" "" "SEQ" "DNA" "" "" "0000167970" "00167091" "1" "02416" "02416" "2013-01-09 15:08:41" "" "" "SEQ" "DNA" "" "" "0000167971" "00167092" "1" "02416" "02416" "2013-01-09 15:10:04" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167972" "00167093" "1" "02416" "02416" "2013-01-09 15:11:12" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167973" "00167094" "1" "02416" "02416" "2013-01-09 15:12:11" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167974" "00167095" "1" "02416" "02416" "2013-01-09 15:19:03" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167975" "00167096" "1" "02416" "02416" "2013-01-09 15:24:19" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167976" "00167097" "1" "02416" "02416" "2013-01-09 15:28:20" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167977" "00167098" "1" "02416" "02416" "2013-01-09 15:32:38" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167978" "00167099" "1" "02416" "02416" "2013-01-09 15:33:26" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167979" "00167100" "1" "02416" "02416" "2013-01-09 15:34:12" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167980" "00167101" "1" "02416" "02416" "2013-01-09 15:38:49" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000167981" "00167102" "1" "02416" "02416" "2013-01-09 16:07:30" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167982" "00167103" "1" "02416" "02416" "2013-01-09 16:11:34" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167983" "00167104" "1" "02416" "02416" "2013-01-09 16:14:43" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167984" "00167105" "1" "02416" "02416" "2013-01-09 16:16:29" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167985" "00167106" "1" "02416" "02416" "2013-01-09 16:21:45" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167986" "00167107" "1" "02416" "02416" "2013-01-09 16:29:15" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167987" "00167108" "1" "02416" "02416" "2013-01-09 16:34:29" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167988" "00167109" "1" "02416" "02416" "2013-01-09 16:40:15" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167989" "00167110" "1" "02416" "02416" "2013-01-09 16:42:16" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167990" "00167111" "1" "02416" "02416" "2013-01-09 16:47:50" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000167991" "00167112" "1" "02416" "02416" "2013-01-09 16:49:26" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168003" "00167124" "1" "02416" "02416" "2013-02-07 15:23:25" "00110" "2015-02-09 17:21:55" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168011" "00167132" "1" "02416" "02416" "2013-02-08 16:13:50" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168012" "00167133" "1" "02416" "02416" "2013-02-08 16:39:52" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168013" "00167134" "1" "02416" "02416" "2013-02-08 16:51:53" "00110" "2014-02-06 10:24:58" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168014" "00167135" "1" "02416" "02416" "2013-02-08 17:30:08" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168022" "00167143" "1" "02416" "02416" "2013-02-11 12:38:59" "00110" "2015-02-10 16:50:56" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168023" "00167144" "1" "02416" "02416" "2013-02-11 12:58:54" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168024" "00167145" "1" "02416" "02416" "2013-02-11 14:39:00" "00110" "2014-02-06 10:24:58" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168027" "00167148" "1" "02416" "02416" "2013-06-05 16:28:05" "00110" "2015-02-09 17:17:25" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168028" "00167149" "1" "02416" "02416" "2013-06-05 17:44:53" "00110" "2016-06-06 09:35:48" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168031" "00167152" "1" "02416" "02416" "2013-06-05 17:25:49" "00110" "2016-06-06 09:35:48" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168042" "00167163" "1" "02416" "02416" "2013-06-26 17:41:56" "00110" "2015-02-09 17:05:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168043" "00167164" "1" "02416" "02416" "2013-06-26 17:47:52" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168115" "00167236" "1" "00143" "00143" "2014-01-30 14:18:34" "00110" "2014-10-28 12:35:10" "SEQ-NG-S" "DNA" "" "" "0000168148" "00167269" "1" "02416" "02416" "2014-02-07 14:02:56" "00110" "2014-02-07 14:52:07" "SEQ" "DNA" "" "" "0000168149" "00167270" "1" "02416" "02416" "2014-02-07 15:05:52" "" "" "SEQ" "DNA" "" "" "0000168150" "00167271" "1" "02416" "02416" "2014-02-07 15:09:56" "" "" "SEQ" "DNA" "" "" "0000168151" "00167272" "1" "02416" "02416" "2014-02-07 15:12:29" "" "" "SEQ" "DNA" "" "" "0000168152" "00167273" "1" "02416" "02416" "2014-02-07 15:18:23" "00110" "2015-02-09 17:23:40" "SEQ" "DNA" "" "" "0000168153" "00167274" "1" "02416" "02416" "2014-02-07 15:19:55" "00110" "2015-02-09 17:23:24" "SEQ" "DNA" "" "" "0000168154" "00167275" "1" "02416" "02416" "2014-02-07 15:23:47" "" "" "SEQ" "DNA" "" "" "0000168155" "00167276" "1" "02416" "02416" "2014-02-07 15:29:24" "" "" "SEQ" "DNA" "" "" "0000168156" "00167277" "1" "02416" "02416" "2014-02-07 15:49:32" "" "" "SEQ" "DNA" "" "" "0000168157" "00167278" "1" "02416" "02416" "2014-02-07 15:51:30" "" "" "SEQ" "DNA" "" "" "0000168158" "00167279" "1" "02416" "02416" "2014-02-07 15:53:22" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000168159" "00167280" "1" "02416" "02416" "2014-02-07 15:55:08" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000168160" "00167281" "1" "02416" "02416" "2014-02-10 11:20:34" "00110" "2014-02-10 11:27:36" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168161" "00167282" "1" "02416" "02416" "2014-02-10 11:22:45" "00110" "2014-02-10 11:27:36" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168162" "00167283" "1" "02416" "02416" "2014-02-10 11:25:19" "00110" "2014-02-10 11:27:36" "SEQ" "DNA" "" "" "0000168163" "00167284" "1" "02416" "02416" "2014-02-10 16:01:59" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168175" "00167296" "1" "02416" "02416" "2014-03-25 15:12:31" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168176" "00167297" "1" "02416" "02416" "2014-03-25 15:21:50" "" "" "SEQ" "DNA" "" "" "0000168177" "00167298" "1" "02416" "02416" "2014-03-21 09:51:20" "00110" "2014-03-21 09:51:54" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168178" "00167299" "1" "02416" "02416" "2014-03-21 09:55:01" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168179" "00167300" "1" "02416" "02416" "2014-03-21 09:57:23" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168320" "00167441" "1" "02416" "02416" "2014-08-04 11:55:33" "00110" "2014-08-04 11:57:51" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168321" "00167442" "1" "02416" "02416" "2014-08-04 14:53:08" "00110" "2014-08-04 14:54:07" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168322" "00167443" "1" "02416" "02416" "2014-08-04 15:55:38" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168326" "00167447" "1" "00764" "00764" "2014-08-08 17:06:25" "00110" "2014-10-30 11:47:50" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168506" "00167627" "1" "00764" "00764" "2014-10-30 11:48:50" "" "" "SEQ" "DNA" "" "" "0000168515" "00167636" "1" "02416" "02416" "2014-11-26 12:24:38" "00110" "2015-02-09 17:02:31" "SEQ" "DNA" "" "" "0000168516" "00167637" "1" "02416" "02416" "2014-11-26 12:26:14" "00110" "2015-02-09 17:02:31" "SEQ" "DNA" "" "" "0000168517" "00167638" "1" "02416" "02416" "2014-11-26 12:27:13" "00110" "2015-02-09 17:02:31" "SEQ" "DNA" "" "" "0000168518" "00167639" "1" "02416" "02416" "2014-11-26 12:29:36" "00110" "2015-02-09 17:02:31" "SEQ" "DNA" "" "" "0000168519" "00167640" "1" "02416" "02416" "2014-11-26 12:30:43" "00110" "2015-02-09 17:02:31" "SEQ" "DNA" "" "" "0000168520" "00167641" "1" "02416" "02416" "2014-11-26 13:25:27" "00110" "2015-02-09 17:04:37" "SEQ" "DNA" "" "" "0000168521" "00167642" "1" "02416" "02416" "2014-11-26 13:27:21" "00110" "2015-02-09 17:04:37" "SEQ" "DNA" "" "" "0000168522" "00167643" "1" "02416" "02416" "2014-11-26 13:28:55" "00110" "2015-02-09 17:04:37" "SEQ" "DNA" "" "" "0000168523" "00167644" "1" "02416" "02416" "2014-11-26 13:29:58" "00110" "2015-02-09 17:04:37" "SEQ" "DNA" "" "" "0000168524" "00167645" "1" "02416" "02416" "2014-11-26 16:05:15" "00110" "2015-02-09 17:02:56" "SEQ" "DNA" "" "" "0000168525" "00167646" "1" "02416" "02416" "2014-11-26 16:06:32" "00110" "2015-02-09 17:02:56" "SEQ" "DNA" "" "" "0000168526" "00167647" "1" "02416" "02416" "2014-11-26 16:07:28" "00110" "2015-02-09 17:02:56" "SEQ" "DNA" "" "" "0000168528" "00167649" "1" "02416" "02416" "2014-12-10 16:04:32" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168529" "00167650" "1" "02416" "02416" "2014-12-10 16:14:03" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168531" "00167652" "1" "02416" "02416" "2014-12-10 17:12:09" "00110" "2015-02-09 17:15:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168534" "00167655" "1" "02416" "02416" "2014-12-10 17:28:37" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168545" "00167666" "1" "02416" "02416" "2015-02-09 15:21:05" "00110" "2015-02-09 15:22:12" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168546" "00167667" "1" "02416" "02416" "2015-02-09 15:24:57" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168547" "00167668" "1" "02416" "02416" "2015-02-09 16:00:42" "00110" "2015-02-09 16:15:24" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168549" "00167670" "1" "02416" "02416" "2015-02-09 16:12:58" "00110" "2015-02-09 16:15:24" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168550" "00167671" "1" "02416" "02416" "2015-02-09 16:33:35" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168551" "00167672" "1" "02416" "02416" "2015-02-09 16:41:27" "00110" "2015-02-09 17:24:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168552" "00167673" "1" "02416" "02416" "2015-02-09 16:48:56" "00110" "2015-02-09 17:22:35" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168553" "00167674" "1" "02416" "02416" "2015-02-09 16:58:34" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168554" "00167675" "1" "02416" "02416" "2015-02-10 15:25:54" "00110" "2015-02-10 15:27:52" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168555" "00167676" "1" "02416" "02416" "2015-02-10 15:29:19" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168556" "00167677" "1" "02416" "02416" "2015-02-10 16:46:12" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168557" "00167678" "1" "02416" "02416" "2015-02-10 16:51:11" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168558" "00167679" "1" "02416" "02416" "2015-02-10 16:54:12" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168559" "00167680" "1" "02416" "02416" "2015-02-10 16:58:51" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168560" "00167681" "1" "02416" "02416" "2015-02-10 17:02:05" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168561" "00167682" "1" "02416" "02416" "2015-02-10 17:03:23" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168562" "00167683" "1" "02416" "02416" "2015-02-11 15:52:38" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168573" "00167694" "1" "02416" "02416" "2015-02-11 15:48:49" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168575" "00167696" "1" "02425" "02425" "2015-02-12 05:49:38" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168576" "00167697" "1" "02425" "02425" "2015-02-12 06:46:02" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168577" "00167698" "1" "02425" "02425" "2015-02-12 07:06:09" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168578" "00167699" "1" "02425" "02425" "2015-02-12 07:16:13" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168579" "00167700" "1" "02425" "02425" "2015-02-12 07:52:12" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168580" "00167701" "1" "02425" "02425" "2015-02-12 07:57:25" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168581" "00167702" "1" "02416" "02416" "2015-02-12 11:11:40" "00110" "2015-02-12 11:19:22" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168583" "00167704" "1" "02416" "02416" "2015-02-12 11:16:10" "00110" "2015-02-12 11:20:27" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168584" "00167705" "1" "02416" "02416" "2015-02-12 13:51:17" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168586" "00167707" "1" "02425" "02425" "2015-02-16 06:38:02" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168587" "00167708" "1" "02425" "02425" "2015-02-16 06:48:19" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168588" "00167709" "1" "02425" "02425" "2015-02-16 06:58:43" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168589" "00167710" "1" "02425" "02425" "2015-02-16 07:03:58" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168590" "00167711" "1" "02425" "02425" "2015-02-16 07:12:28" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168591" "00167712" "1" "02425" "02425" "2015-02-16 07:20:06" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168592" "00167713" "1" "02425" "02425" "2015-02-16 07:28:05" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168593" "00167714" "1" "02425" "02425" "2015-02-16 07:34:20" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168594" "00167715" "1" "02425" "02425" "2015-02-16 07:40:45" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168595" "00167716" "1" "02425" "02425" "2015-02-16 07:46:29" "00110" "2015-07-06 11:00:24" "SEQ" "DNA" "" "" "0000168596" "00167717" "1" "02416" "02416" "2015-02-16 10:50:07" "00110" "2015-02-16 11:55:45" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168597" "00167718" "1" "02416" "02416" "2015-02-16 10:52:54" "00110" "2015-02-16 11:55:45" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168598" "00167719" "1" "02416" "02416" "2015-02-16 10:54:33" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168599" "00167720" "1" "02416" "02416" "2015-02-16 11:00:13" "00110" "2015-02-16 11:55:45" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168600" "00167721" "1" "02416" "02416" "2015-02-16 11:09:04" "00110" "2015-02-16 11:55:45" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168601" "00167722" "1" "02416" "02416" "2015-02-16 11:17:35" "00110" "2015-02-16 11:55:45" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168602" "00167723" "1" "02416" "02416" "2015-02-16 11:39:59" "00110" "2015-02-16 11:55:45" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168603" "00167724" "1" "02416" "02416" "2015-02-16 11:42:55" "00110" "2016-05-30 18:09:32" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168665" "00167786" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2017-10-27 14:04:28" "SEQ;SEQ-NG-S;PCRq;arrayCGH" "DNA" "" "" "0000168666" "00167787" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S;PCRq;arrayCGH" "DNA" "" "" "0000168667" "00167788" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168668" "00167789" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S;PCRq" "DNA" "" "" "0000168669" "00167790" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168670" "00167791" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168671" "00167792" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168672" "00167793" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168673" "00167794" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168674" "00167795" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168675" "00167796" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168676" "00167797" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168677" "00167798" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168678" "00167799" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168679" "00167800" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2017-10-27 14:04:50" "PCRq;arrayCGH" "DNA" "" "" "0000168680" "00167801" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168681" "00167802" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S;PCRq" "DNA" "" "" "0000168682" "00167803" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168683" "00167804" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168684" "00167805" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168685" "00167806" "1" "02428" "02428" "2016-05-27 16:40:12" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168733" "00167854" "1" "02428" "02428" "2016-08-09 09:24:36" "" "" "SEQ" "DNA" "" "" "0000168734" "00167855" "1" "02428" "02428" "2016-08-09 09:28:59" "" "" "SEQ" "DNA" "" "" "0000168735" "00167856" "1" "02428" "02428" "2016-08-09 09:31:29" "00110" "2016-08-09 09:32:20" "SEQ" "DNA" "" "" "0000168736" "00167857" "1" "02428" "02428" "2016-08-09 09:40:17" "" "" "SEQ" "DNA" "" "" "0000168737" "00167858" "1" "02428" "02428" "2016-08-09 09:42:04" "" "" "SEQ" "DNA" "" "" "0000168738" "00167859" "1" "02416" "02416" "2016-08-09 09:45:16" "" "" "SEQ" "DNA" "" "" "0000168905" "00168026" "1" "02416" "02416" "2017-08-14 15:29:18" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168906" "00168027" "1" "02416" "02416" "2017-08-14 15:34:45" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168907" "00168028" "1" "02416" "02416" "2017-08-14 15:39:29" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168914" "00168035" "1" "02430" "02430" "2018-02-25 20:00:17" "" "" "SEQ-NG-S" "DNA" "" "" "0000182468" "00181507" "1" "00006" "00006" "2018-10-09 17:39:16" "" "" "SEQ" "DNA" "" "" "0000182469" "00181508" "1" "00006" "00006" "2018-10-09 17:56:29" "" "" "SEQ" "DNA" "" "" "0000182470" "00181509" "1" "00006" "00006" "2018-10-09 17:59:14" "" "" "SEQ" "DNA" "" "" "0000208628" "00207591" "1" "01244" "01244" "2018-11-26 11:17:26" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000219167" "00218098" "1" "02476" "02476" "2019-01-22 16:05:14" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000291273" "00290105" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291274" "00290106" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291275" "00290107" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291276" "00290108" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291277" "00290109" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291278" "00290110" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291279" "00290111" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291280" "00290112" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291281" "00290113" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291282" "00290114" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291283" "00290115" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291284" "00290116" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291285" "00290117" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291286" "00290118" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291287" "00290119" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291288" "00290120" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291289" "00290121" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291290" "00290122" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291291" "00290123" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291292" "00290124" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291293" "00290125" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291294" "00290126" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291295" "00290127" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291296" "00290128" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291297" "00290129" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291298" "00290130" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291299" "00290131" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291300" "00290132" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300750" "00299640" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 08:55:30" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000305385" "00304256" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305386" "00304257" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305387" "00304258" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305388" "00304259" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305389" "00304260" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305390" "00304261" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305391" "00304262" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308047" "00306910" "1" "03388" "03388" "2020-07-23 06:55:37" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000309636" "00308491" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309750" "00308605" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309930" "00308785" "1" "00004" "00006" "2020-08-27 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "14 gene panel" "0000309931" "00308786" "1" "00004" "00006" "2020-08-27 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "14 gene panel" "0000309932" "00308787" "1" "00004" "00006" "2020-08-27 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "14 gene panel" "0000309933" "00308788" "1" "00004" "00006" "2020-08-27 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "14 gene panel" "0000309937" "00308792" "1" "00004" "00006" "2020-08-27 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "14 gene panel" "0000310161" "00309016" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310704" "00309559" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310709" "00309564" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310725" "00309580" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310739" "00309594" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310740" "00309595" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310752" "00309607" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000315946" "00314772" "1" "00006" "00006" "2020-10-18 12:29:15" "" "" "SEQ;SEQ-NG" "DNA" "" "180-gene panel" "0000316132" "00314956" "1" "03829" "03829" "2020-10-22 16:19:03" "" "" "SEQ-NG-I" "RNA" "" "" "0000328283" "00327069" "1" "03611" "03611" "2021-01-20 03:49:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000328292" "00327078" "1" "03611" "03611" "2021-01-20 04:06:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000328300" "00327086" "1" "03611" "03611" "2021-01-20 04:20:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000328301" "00327087" "1" "03611" "03611" "2021-01-20 04:22:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000328343" "00327131" "1" "03611" "03611" "2021-01-20 08:07:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000328344" "00327132" "1" "03611" "03611" "2021-01-20 08:08:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000328348" "00327136" "1" "03611" "03611" "2021-01-20 08:14:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000328349" "00327137" "1" "03611" "03611" "2021-01-20 08:15:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000328350" "00327138" "1" "03611" "03611" "2021-01-20 08:17:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000328351" "00327139" "1" "03611" "03611" "2021-01-20 08:18:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000328352" "00327140" "1" "03611" "03611" "2021-01-20 08:19:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000328612" "00327400" "1" "03980" "03980" "2021-01-20 21:57:41" "" "" "SEQ-NG" "DNA" "" "" "0000332845" "00331626" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332923" "00331704" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332924" "00331705" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000333439" "00332219" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333445" "00332225" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333658" "00332434" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000333665" "00332441" "1" "00000" "00006" "2021-02-19 11:58:15" "" "" "SEQ-NG" "DNA" "" "11-gene panel" "0000334581" "00333356" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334583" "00333358" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334585" "00333360" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334591" "00333366" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000335229" "00334003" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335230" "00334004" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335231" "00334005" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335232" "00334006" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000336322" "00335093" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336323" "00335094" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336480" "00335251" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel" "0000337077" "00335847" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ-NG" "DNA" "" "gene panel USH" "0000337078" "00335848" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ-NG" "DNA" "" "gene panel USH" "0000337079" "00335849" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337087" "00335857" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ" "DNA" "" "" "0000337088" "00335858" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337089" "00335859" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337098" "00335868" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ-NG" "DNA" "" "gene panel USH" "0000360183" "00358946" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360204" "00358967" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360205" "00358968" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360212" "00358975" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360508" "00359270" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360618" "00359376" "1" "00000" "00006" "2021-03-19 18:50:51" "" "" "SEQ-NG" "DNA" "" "64-gene panel" "0000363018" "00361790" "1" "02404" "02404" "2021-04-10 13:02:46" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000364444" "00363216" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364445" "00363217" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364446" "00363218" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ" "DNA" "" "locus‐specific polymorphic microsatellite marker" "0000364447" "00363219" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364448" "00363220" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364449" "00363221" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364458" "00363230" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000369545" "00368317" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000374760" "00373525" "1" "00000" "00006" "2021-05-15 17:36:34" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000375039" "00373807" "1" "00000" "00006" "2021-05-21 12:20:36" "" "" "arraySEQ" "DNA" "" "Asper" "0000375072" "00373840" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000375073" "00373841" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000375074" "00373842" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000376461" "00375266" "1" "02404" "02404" "2021-06-02 12:50:54" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000376609" "00375412" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376610" "00375413" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376611" "00375414" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376615" "00375418" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376616" "00375419" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376619" "00375422" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376620" "00375423" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376629" "00375432" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376630" "00375433" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000381417" "00380215" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000382824" "00381608" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000383459" "00382245" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383520" "00382306" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383720" "00382506" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383721" "00382507" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383722" "00382508" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383723" "00382509" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000385013" "00383788" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000386622" "00385393" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387951" "00386723" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388115" "00386887" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388146" "00386918" "1" "00000" "03840" "2021-10-26 17:11:18" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000388475" "00387249" "1" "02416" "02416" "2021-10-28 14:07:00" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388529" "00387303" "1" "02416" "02416" "2021-10-28 14:09:41" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388531" "00387305" "1" "02416" "02416" "2021-10-28 14:09:46" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388899" "00387673" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000390003" "00388760" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper" "0000390013" "00388770" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390014" "00388771" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390025" "00388782" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390026" "00388783" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390144" "00388901" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390359" "00389116" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390523" "00389280" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390764" "00389521" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391439" "00390198" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392735" "00391493" "1" "00000" "03840" "2021-11-15 19:12:31" "" "" "SEQ-NG" "DNA" "" "" "0000395941" "00394694" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395942" "00394695" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395943" "00394696" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395944" "00394697" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395945" "00394698" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396834" "00395596" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "whole exome sequencing" "0000397202" "00395963" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397461" "00396220" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG" "DNA" "" "" "0000397463" "00396222" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "arraySNP" "DNA" "" "" "0000397471" "00396230" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397472" "00396231" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397500" "00396259" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397501" "00396260" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397525" "00396284" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397526" "00396285" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397527" "00396286" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397528" "00396287" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000403404" "00402163" "1" "00000" "03840" "2022-02-04 13:28:22" "" "" "SEQ-NG-I" "DNA" "blood" "targeted sequencing" "0000412224" "00410960" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted panel sequencing (TPS)" "0000412225" "00410961" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ;RT-PCR" "DNA;RNA" "" "WES" "0000412226" "00410962" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412227" "00410963" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ;RT-PCR" "DNA;RNA" "" "Targeted NGS" "0000412228" "00410964" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ;RT-PCR" "DNA;RNA" "" "Targeted NGS" "0000429422" "00428009" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "trio WES" "0000442637" "00441151" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442638" "00441152" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442639" "00441153" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442640" "00441154" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442641" "00441155" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442642" "00441156" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442643" "00441157" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442644" "00441158" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442645" "00441159" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442646" "00441160" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442647" "00441161" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442648" "00441162" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442649" "00441163" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442650" "00441164" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442651" "00441165" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442945" "00441459" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442968" "00441482" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443131" "00441645" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448980" "00447403" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449020" "00447443" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449073" "00447496" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449074" "00447497" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449108" "00447531" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449211" "00447634" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000455063" "00453449" "1" "03544" "03544" "2024-08-29 13:57:35" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000466183" "00464545" "1" "04333" "04333" "2025-03-27 11:52:42" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 219 "{{screeningid}}" "{{geneid}}" "0000000007" "ACADM" "0000000007" "ATP7B" "0000000007" "CDH23" "0000000007" "HESX1" "0000000007" "HGSNAT" "0000000007" "NPHS1" "0000000007" "PAH" "0000000007" "PKHD1" "0000000007" "SERPINA1" "0000000033" "ATP7B" "0000000033" "CDH23" "0000000033" "CYP21A2" "0000000033" "DPYD" "0000000033" "ETFB" "0000000033" "GAA" "0000000033" "HADHA" "0000000033" "HESX1" "0000000033" "NHLRC1" "0000000033" "PHEX" "0000000033" "SERPINA1" "0000000033" "USH2A" "0000000067" "ASPA" "0000000067" "ATP7B" "0000000067" "CDH23" "0000000067" "CPT1A" "0000000067" "CYP21A2" "0000000067" "ETFB" "0000000067" "GALC" "0000000067" "GLB1" "0000000067" "MEFV" "0000000067" "MTHFR" "0000000067" "MVK" "0000000067" "NHLRC1" "0000000067" "NPHS1" "0000000067" "SERPINA1" "0000000067" "SLC26A2" "0000000067" "SMPD1" "0000000067" "WNT10A" "0000000068" "ADA" "0000000068" "ATP7B" "0000000068" "BMPR2" "0000000068" "CDH23" "0000000068" "CYP21A2" "0000000068" "ENPP1" "0000000068" "ETFB" "0000000068" "FKTN" "0000000068" "HBB" "0000000068" "HGSNAT" "0000000068" "IGHMBP2" "0000000068" "IVD" "0000000068" "MTHFR" "0000000068" "MYO5A" "0000000068" "NPHS1" "0000000068" "SERPINA1" "0000000075" "ATP7B" "0000000075" "CDH23" "0000000075" "ETFB" "0000000075" "GAA" "0000000075" "HESX1" "0000000075" "IGHMBP2" "0000000075" "LAMA2" "0000000075" "MEFV" "0000000075" "NPHP4" "0000000075" "SERPINA1" "0000000078" "ATP7B" "0000000078" "CDH23" "0000000078" "CFTR" "0000000078" "ETFB" "0000000078" "GLB1" "0000000078" "IGHMBP2" "0000000078" "NPHS1" "0000000078" "PMM2" "0000000078" "POLG" "0000000078" "RAG1" "0000000078" "SERPINA1" "0000000078" "SLC26A2" "0000000079" "CDH23" "0000000079" "GPR98" "0000000079" "NHLRC1" "0000000079" "NPHS1" "0000000079" "SERPINA1" "0000000080" "ATP7B" "0000000080" "CDH23" "0000000080" "HBA1" "0000000080" "NPHS1" "0000000080" "SERPINA1" "0000000080" "SMPD1" "0000000081" "ADAMTS13" "0000000081" "ATP7B" "0000000081" "CDH23" "0000000081" "ETFB" "0000000081" "FKTN" "0000000081" "GLB1" "0000000081" "HEXB" "0000000081" "NPHS1" "0000000081" "SERPINA1" "0000000081" "SMPD1" "0000000102" "B3GLCT" "0000000102" "BEST1" "0000000102" "MECP2" "0000000102" "NF1" "0000000102" "NSD1" "0000000102" "RS1" "0000002906" "CDH23" "0000059103" "CDH23" "0000059135" "CDH23" "0000059135" "MYO15A" "0000081196" "CDH23" "0000081436" "CDH23" "0000081437" "CDH23" "0000081513" "HTT" "0000081514" "HTT" "0000145015" "EYS" "0000182468" "CDH23" "0000182469" "CDH23" "0000182470" "CDH23" "0000219167" "CDH23" "0000300750" "ARHGEF18" "0000308047" "CDH23" "0000309636" "CDH23" "0000309750" "CDH23" "0000309930" "CDH23" "0000309931" "CDH23" "0000309932" "CDH23" "0000309933" "CDH23" "0000309937" "CDH23" "0000310161" "CDH23" "0000310704" "CDH23" "0000310709" "CDH23" "0000310725" "CDH23" "0000310739" "CDH23" "0000310739" "GPR98" "0000310740" "CDH23" "0000310752" "CDH23" "0000315946" "CDH23" "0000332845" "CDH23" "0000332845" "PDE6B" "0000332923" "CDH23" "0000332924" "CDH23" "0000333658" "USH2A" "0000333665" "USH2A" "0000334581" "PRPF31" "0000334583" "RPGR" "0000334585" "NR2E3" "0000335229" "CDH23" "0000335230" "CDH23" "0000335231" "CDH23" "0000335232" "CDH23" "0000336322" "CDH23" "0000336323" "CDH23" "0000336480" "CDH23" "0000337077" "CDH23" "0000337078" "CDH23" "0000337079" "CDH23" "0000337087" "CDH23" "0000337088" "CDH23" "0000337089" "CDH23" "0000337098" "CDH23" "0000364444" "CDH23" "0000364445" "CDH23" "0000364446" "CDH23" "0000364447" "CDH23" "0000364448" "CDH23" "0000364449" "CDH23" "0000364458" "CDH23" "0000369545" "ABCA4" "0000374760" "CDH23" "0000375039" "CDH23" "0000375072" "CDH23" "0000375073" "CDH23" "0000375074" "CDH23" "0000381417" "CDH23" "0000382824" "RP1" "0000383459" "CDH23" "0000383520" "EYS" "0000383720" "CDH23" "0000383721" "CDH23" "0000383722" "CDH23" "0000383723" "CDH23" "0000385013" "TTLL5" "0000386622" "CDH23" "0000387951" "CDH23" "0000388115" "CDH23" "0000388146" "ABCA4" "0000388899" "CDH23" "0000390003" "CDH23" "0000390013" "CDH23" "0000390014" "CDH23" "0000390025" "CDH23" "0000390026" "CDH23" "0000390144" "CDH23" "0000390359" "CDH23" "0000390523" "CDH23" "0000390764" "CDH23" "0000391439" "CDH23" "0000392735" "CDH23" "0000395941" "CDH23" "0000395942" "CDH23" "0000395943" "CDH23" "0000395944" "CDH23" "0000395945" "CDH23" "0000396834" "CDH23" "0000397202" "CDH23" "0000397461" "RPE65" "0000397463" "GUCY2D" "0000397471" "CDH23" "0000397472" "CDH23" "0000397500" "CDH23" "0000397501" "CDH23" "0000397525" "CDH23" "0000397526" "CDH23" "0000397527" "CDH23" "0000397528" "CDH23" "0000403404" "USH2A" "0000412224" "CDH23" "0000412225" "CDH23" "0000412226" "CDH23" "0000412227" "CDH23" "0000412228" "CDH23" ## 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 = 2745 "{{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}}" "0000000141" "0" "50" "10" "73490271" "73490271" "subst" "0.010663" "00002" "CDH23_000091" "g.73490271A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71730514A>G" "" "VUS" "" "0000000142" "0" "50" "10" "73490271" "73490271" "subst" "0.010663" "00002" "CDH23_000091" "g.73490271A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71730514A>G" "" "VUS" "" "0000000143" "0" "50" "10" "73490271" "73490271" "subst" "0.010663" "00002" "CDH23_000091" "g.73490271A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71730514A>G" "" "VUS" "" "0000000144" "0" "50" "10" "73490271" "73490271" "subst" "0.010663" "00002" "CDH23_000091" "g.73490271A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71730514A>G" "" "VUS" "" "0000000145" "0" "50" "10" "73490271" "73490271" "subst" "0.010663" "00002" "CDH23_000091" "g.73490271A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71730514A>G" "" "VUS" "" "0000000146" "0" "50" "10" "73490271" "73490271" "subst" "0.010663" "00002" "CDH23_000091" "g.73490271A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71730514A>G" "" "VUS" "" "0000000147" "0" "50" "10" "73490271" "73490271" "subst" "0.010663" "00002" "CDH23_000091" "g.73490271A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71730514A>G" "" "VUS" "" "0000000148" "0" "50" "10" "73490271" "73490271" "subst" "0.010663" "00002" "CDH23_000091" "g.73490271A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71730514A>G" "" "VUS" "" "0000000149" "0" "50" "10" "73472494" "73472494" "subst" "0.00224305" "00002" "CDH23_000034" "g.73472494A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71712737A>G" "" "VUS" "" "0000000150" "0" "50" "10" "73377112" "73377112" "subst" "0.00729672" "00002" "CDH23_000039" "g.73377112G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71617355G>A" "" "VUS" "" "0000000151" "0" "50" "10" "73453990" "73453990" "subst" "0.00218662" "00002" "CDH23_000111" "g.73453990C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71694233C>T" "" "VUS" "" "0000004905" "0" "50" "10" "73537978" "73537978" "subst" "0.186637" "00037" "CDH23_000027" "g.73537978C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71778221C>T" "" "VUS" "" "0000021276" "1" "70" "10" "73494072" "73494072" "subst" "3.33547E-5" "00130" "CDH23_000674" "g.73494072G>A" "" "{PMID:Neveling 2013:24123792}" "" "" "MYO6 variant explains phenotype better than CHD23 variants, segregation analysis needed" "Germline" "?" "" "0" "" "" "g.71734315G>A" "" "likely pathogenic" "" "0000021277" "2" "70" "10" "73573087" "73573087" "subst" "0" "00130" "CDH23_000675" "g.73573087C>G" "" "{PMID:Neveling 2013:24123792}" "" "" "MYO6 variant explains phenotype better than CHD23 variants, segregation analysis needed" "Germline" "?" "" "0" "" "" "g.71813330C>G" "" "likely pathogenic" "" "0000089786" "3" "90" "10" "73330605" "73330605" "subst" "0" "01496" "CDH23_000676" "g.73330605A>T" "" "" "" "818A>T (D228V)" "" "Germline" "yes" "" "0" "" "" "g.71570848A>T" "" "pathogenic" "" "0000089900" "0" "50" "10" "73572630" "73572630" "subst" "6.5264E-5" "01551" "CDH23_000454" "g.73572630C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.71812873C>T" "" "VUS" "" "0000091215" "3" "90" "10" "73565593" "73565593" "subst" "2.85558E-5" "01542" "CDH23_000337" "g.73565593G>T" "2/133 cases (hom), 1/133 cases (het)" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "not in 106 hearing controls" "Germline" "yes" "" "0" "" "" "g.71805836G>T" "" "pathogenic" "" "0000091216" "3" "90" "10" "73565593" "73565593" "subst" "2.85558E-5" "01542" "CDH23_000337" "g.73565593G>T" "2/133 cases (hom), 1/133 cases (het)" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "not in 133 controls" "Germline" "yes" "" "0" "" "" "g.71805836G>T" "" "pathogenic" "" "0000096185" "3" "70" "10" "73464812" "73464812" "subst" "0.00301747" "01551" "CDH23_000453" "g.73464812G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "rs111033458" "0" "" "" "g.71705055G>A" "{CV:45904}" "likely pathogenic" "" "0000128978" "1" "70" "10" "73553127" "73553127" "subst" "8.93815E-5" "01740" "CDH23_000128" "g.73553127G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.71793370G>A" "" "likely pathogenic" "" "0000128979" "2" "70" "10" "73437243" "73437245" "del" "0" "01740" "CDH23_000455" "g.73437243_73437245del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.71677486_71677488del" "" "likely pathogenic" "" "0000128986" "1" "70" "10" "73450261" "73450261" "subst" "0" "01740" "CDH23_000456" "g.73450261A>G" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.71690504A>G" "" "likely pathogenic" "" "0000128987" "2" "70" "10" "73500652" "73500652" "subst" "1.21829E-5" "01740" "CDH23_000457" "g.73500652A>G" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.71740895A>G" "" "likely pathogenic" "" "0000129004" "1" "70" "10" "73567444" "73567445" "del" "0" "01740" "CDH23_000458" "g.73567444_73567445del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.71807687_71807688del" "" "likely pathogenic" "" "0000129005" "2" "70" "10" "73567444" "73567445" "del" "0" "01740" "CDH23_000458" "g.73567444_73567445del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.71807687_71807688del" "" "likely pathogenic" "" "0000130282" "3" "90" "10" "73337695" "73337695" "subst" "0" "01758" "CDH23_000310" "g.73337695G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "pathogenic" "ACMG" "0000130571" "11" "70" "10" "73538016" "73538016" "subst" "0" "01779" "CDH23_000459" "g.73538016C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.71778259C>A" "" "likely pathogenic" "" "0000130572" "1" "90" "10" "73537444" "73537444" "subst" "0" "01779" "CDH23_000461" "g.73537444C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.71777687C>A" "" "pathogenic (recessive)" "" "0000130574" "1" "90" "10" "73567616" "73567616" "del" "0" "01779" "CDH23_000460" "g.73567616del" "" "{PMID:Kim 2015:26264712}" "" "" "" "Germline" "" "" "0" "" "" "g.71807859del" "" "pathogenic (recessive)" "" "0000246888" "0" "10" "10" "73574728" "73574728" "subst" "0.00290095" "02330" "CDH23_000585" "g.73574728A>C" "" "" "" "CDH23(NM_001171933.1):c.3038A>C (p.(Asp1013Ala)), CDH23(NM_022124.5):c.9758A>C (p.D3253A), CDH23(NM_022124.6):c.9758A>C (p.D3253A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71814971A>C" "" "benign" "" "0000246962" "0" "50" "10" "73499446" "73499446" "subst" "0.000314388" "02330" "CDH23_000504" "g.73499446A>G" "" "" "" "CDH23(NM_022124.5):c.4405A>G (p.I1469V), CDH23(NM_022124.6):c.4405A>G (p.I1469V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71739689A>G" "" "VUS" "" "0000246963" "0" "50" "10" "73539045" "73539045" "subst" "4.06121E-6" "02330" "CDH23_000673" "g.73539045A>G" "" "" "" "CDH23(NM_022124.5):c.5209A>G (p.I1737V), CDH23(NM_022124.6):c.5209A>G (p.I1737V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71779288A>G" "" "VUS" "" "0000248855" "0" "10" "10" "73492079" "73492079" "subst" "0.805895" "02325" "CDH23_000031" "g.73492079A>G" "" "" "" "C10orf105(NM_001168390.2):c.-6+5406T>C, CDH23(NM_022124.6):c.4051A>G (p.N1351D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71732322A>G" "" "benign" "" "0000249143" "0" "10" "10" "73270995" "73270995" "subst" "0.660245" "02325" "CDH23_000471" "g.73270995A>G" "" "" "" "CDH23(NM_022124.6):c.429+26A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71511238A>G" "" "benign" "" "0000254151" "0" "30" "10" "73574728" "73574728" "subst" "0.00290095" "01943" "CDH23_000585" "g.73574728A>C" "" "" "" "CDH23(NM_001171933.1):c.3038A>C (p.(Asp1013Ala)), CDH23(NM_022124.5):c.9758A>C (p.D3253A), CDH23(NM_022124.6):c.9758A>C (p.D3253A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71814971A>C" "" "likely benign" "" "0000254753" "0" "30" "10" "73472494" "73472494" "subst" "0.00224305" "01943" "CDH23_000034" "g.73472494A>G" "" "" "" "CDH23(NM_001171930.1):c.3293A>G (p.(Asn1098Ser)), CDH23(NM_022124.5):c.3293A>G (p.N1098S), CDH23(NM_022124.6):c.3293A>G (p.N1098S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71712737A>G" "" "likely benign" "" "0000254921" "0" "30" "10" "73269866" "73269866" "subst" "0.0044103" "01943" "CDH23_000464" "g.73269866A>G" "" "" "" "CDH23(NM_022124.5):c.173A>G (p.Q58R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71510109A>G" "" "likely benign" "" "0000255268" "0" "30" "10" "73337757" "73337757" "subst" "0.000312116" "01943" "CDH23_000478" "g.73337757A>G" "" "" "" "CDH23(NM_001171930.1):c.832+8A>G (p.(=)), CDH23(NM_022124.5):c.832+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71578000A>G" "" "likely benign" "" "0000256040" "0" "50" "10" "73563169" "73563169" "subst" "0" "01943" "CDH23_000553" "g.73563169A>G" "" "" "" "CDH23(NM_022124.5):c.7864A>G (p.I2622V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71803412A>G" "" "VUS" "" "0000256404" "0" "50" "10" "73439169" "73439169" "subst" "1.62869E-5" "01943" "CDH23_000485" "g.73439169A>C" "" "" "" "CDH23(NM_022124.5):c.1778A>C (p.N593T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71679412A>C" "" "VUS" "" "0000256526" "0" "50" "10" "73464860" "73464860" "subst" "0.000220266" "01943" "CDH23_000657" "g.73464860A>G" "" "" "" "CDH23(NM_022124.5):c.2926A>G (p.S976G), CDH23(NM_022124.6):c.2926A>G (p.S976G, p.(Ser976Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71705103A>G" "" "VUS" "" "0000263821" "0" "10" "10" "73494095" "73494095" "subst" "0.00151653" "02330" "CDH23_000502" "g.73494095C>T" "" "" "" "C10orf105(NM_001168390.2):c.-6+3390G>A, CDH23(NM_022124.6):c.4203C>T (p.T1401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71734338C>T" "" "benign" "" "0000263822" "0" "30" "10" "73492073" "73492073" "subst" "0.0024937" "02330" "CDH23_000672" "g.73492073C>T" "" "" "" "C10orf105(NM_001168390.2):c.-6+5412G>A, CDH23(NM_022124.5):c.4045C>T (p.R1349C), CDH23(NM_022124.6):c.4045C>T (p.R1349C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71732316C>T" "" "likely benign" "" "0000263823" "0" "10" "10" "73492027" "73492027" "subst" "0.00311003" "02330" "CDH23_000671" "g.73492027G>A" "" "" "" "C10orf105(NM_001168390.2):c.-6+5458C>T, CDH23(NM_022124.5):c.3999G>A (p.V1333=), CDH23(NM_022124.6):c.3999G>A (p.V1333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71732270G>A" "" "benign" "" "0000263824" "0" "30" "10" "73491923" "73491923" "subst" "0.000195078" "02330" "CDH23_000669" "g.73491923G>A" "" "" "" "C10orf105(NM_001168390.2):c.-6+5562C>T, CDH23(NM_022124.6):c.3895G>A (p.V1299I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71732166G>A" "" "likely benign" "" "0000264402" "0" "10" "10" "73377172" "73377172" "subst" "0.00136017" "02330" "CDH23_000479" "g.73377172C>T" "" "" "" "CDH23(NM_001171932.1):c.1156C>T (p.P386S), CDH23(NM_001171932.2):c.1156C>T (p.P386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71617415C>T" "" "benign" "" "0000264403" "0" "50" "10" "73437418" "73437418" "subst" "0" "02330" "CDH23_000484" "g.73437418G>A" "" "" "" "CDH23(NM_022124.6):c.1720G>A (p.E574K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71677661G>A" "" "VUS" "" "0000264404" "0" "50" "10" "73439222" "73439222" "subst" "4.12558E-5" "02330" "CDH23_000486" "g.73439222G>A" "" "" "" "CDH23(NM_022124.6):c.1831G>A (p.D611N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71679465G>A" "" "VUS" "" "0000264405" "0" "10" "10" "73269891" "73269891" "subst" "0.00460128" "02330" "CDH23_000465" "g.73269891G>A" "" "" "" "CDH23(NM_022124.5):c.198G>A (p.V66=), CDH23(NM_022124.6):c.198G>A (p.V66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71510134G>A" "" "benign" "" "0000264408" "0" "10" "10" "73454036" "73454036" "subst" "0.000224386" "02330" "CDH23_000492" "g.73454036G>A" "" "" "" "CDH23(NM_022124.6):c.2289+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71694279G>A" "" "benign" "" "0000264409" "0" "10" "10" "73455162" "73455162" "del" "0" "02330" "CDH23_000493" "g.73455162del" "" "" "" "CDH23(NM_022124.6):c.2290-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71695405del" "" "benign" "" "0000264410" "0" "30" "10" "73455222" "73455222" "subst" "0.00167318" "02330" "CDH23_000495" "g.73455222G>A" "" "" "" "CDH23(NM_022124.6):c.2337G>A (p.K779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71695465G>A" "" "likely benign" "" "0000264411" "0" "10" "10" "73461984" "73461984" "subst" "9.11524E-5" "02330" "CDH23_000497" "g.73461984G>A" "" "" "" "CDH23(NM_022124.6):c.2587+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71702227G>A" "" "benign" "" "0000264413" "0" "30" "10" "73462468" "73462468" "subst" "0.00073188" "02330" "CDH23_000499" "g.73462468T>G" "" "" "" "CDH23(NM_022124.6):c.2733+17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71702711T>G" "" "likely benign" "" "0000264414" "0" "50" "10" "73464710" "73464710" "subst" "0" "02330" "CDH23_000500" "g.73464710T>G" "" "" "" "CDH23(NM_022124.6):c.2776T>G (p.S926A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71704953T>G" "" "VUS" "" "0000264415" "0" "10" "10" "73466676" "73466676" "subst" "7.45588E-5" "02330" "CDH23_000658" "g.73466676G>A" "" "" "" "CDH23(NM_022124.6):c.2976G>A (p.T992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71706919G>A" "" "benign" "" "0000264416" "0" "50" "10" "73468927" "73468927" "subst" "5.69272E-5" "02330" "CDH23_000660" "g.73468927G>A" "" "" "" "CDH23(NM_022124.5):c.3179G>A (p.R1060Q), CDH23(NM_022124.6):c.3179G>A (p.R1060Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71709170G>A" "" "VUS" "" "0000264417" "0" "10" "10" "73472582" "73472582" "subst" "0.000391816" "02330" "CDH23_000662" "g.73472582G>A" "" "" "" "C10orf105(NM_001164375.3):c.*3111C>T, CDH23(NM_022124.6):c.3369+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71712825G>A" "" "benign" "" "0000264419" "0" "30" "10" "73270927" "73270927" "subst" "0.000239625" "02330" "CDH23_000469" "g.73270927G>A" "" "" "" "CDH23(NM_022124.5):c.387G>A (p.A129=), CDH23(NM_022124.6):c.387G>A (p.A129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71511170G>A" "" "likely benign" "" "0000264423" "0" "30" "10" "73492096" "73492096" "subst" "0.00220714" "02330" "CDH23_000501" "g.73492096C>G" "" "" "" "C10orf105(NM_001168390.2):c.-6+5389G>C, CDH23(NM_022124.5):c.4068C>G (p.T1356=), CDH23(NM_022124.6):c.4068C>G (p.T1356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71732339C>G" "" "likely benign" "" "0000264425" "0" "10" "10" "73537418" "73537418" "subst" "0.00191677" "02330" "CDH23_000511" "g.73537418G>C" "" "" "" "CDH23(NM_022124.6):c.4846-19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71777661G>C" "" "benign" "" "0000264426" "0" "10" "10" "73537538" "73537538" "subst" "0.000764035" "02330" "CDH23_000515" "g.73537538G>A" "" "" "" "CDH23(NM_022124.6):c.4947G>A (p.T1649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71777781G>A" "" "benign" "" "0000264427" "0" "10" "10" "73537617" "73537617" "subst" "0.00311609" "02330" "CDH23_000516" "g.73537617G>A" "" "" "" "CDH23(NM_022124.5):c.5026G>A (p.A1676T), CDH23(NM_022124.6):c.5026G>A (p.A1676T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71777860G>A" "" "benign" "" "0000264428" "0" "30" "10" "73537673" "73537673" "subst" "0.00129906" "02330" "CDH23_000517" "g.73537673G>A" "" "" "" "CDH23(NM_022124.6):c.5067+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71777916G>A" "" "likely benign" "" "0000264429" "0" "30" "10" "73538008" "73538008" "subst" "0.000259898" "02330" "CDH23_000518" "g.73538008C>A" "" "" "" "CDH23(NM_022124.6):c.5130C>A (p.I1710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71778251C>A" "" "likely benign" "" "0000264430" "0" "10" "10" "73539133" "73539133" "subst" "0.00106102" "02330" "CDH23_000519" "g.73539133T>C" "" "" "" "CDH23(NM_022124.6):c.5297T>C (p.F1766S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71779376T>C" "" "benign" "" "0000264431" "0" "30" "10" "73544094" "73544094" "subst" "0.000678443" "02330" "CDH23_000521" "g.73544094G>A" "" "" "" "CDH23(NM_022124.6):c.5419G>A (p.V1807M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71784337G>A" "" "likely benign" "" "0000264432" "0" "10" "10" "73544686" "73544686" "subst" "0.00282234" "02330" "CDH23_000524" "g.73544686C>T" "" "" "" "CDH23(NM_022124.5):c.5541C>T (p.N1847=), CDH23(NM_022124.6):c.5541C>T (p.N1847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71784929C>T" "" "benign" "" "0000264433" "0" "10" "10" "73544689" "73544689" "subst" "0.00369134" "02330" "CDH23_000525" "g.73544689C>T" "" "" "" "CDH23(NM_022124.5):c.5544C>T (p.D1848=), CDH23(NM_022124.6):c.5544C>T (p.D1848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71784932C>T" "" "benign" "" "0000264434" "0" "90" "10" "73550880" "73550880" "subst" "4.96915E-5" "02330" "CDH23_000532" "g.73550880G>A" "" "" "" "CDH23(NM_022124.5):c.6050-9G>A, CDH23(NM_022124.6):c.6050-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000264435" "0" "10" "10" "73326681" "73326681" "subst" "3.68122E-5" "02330" "CDH23_000474" "g.73326681G>A" "" "" "" "CDH23(NM_022124.5):c.612G>A (p.T204=), CDH23(NM_022124.6):c.612G>A (p.T204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71566924G>A" "" "benign" "" "0000264436" "0" "30" "10" "73552960" "73552960" "subst" "0.000261705" "02330" "CDH23_000535" "g.73552960C>T" "" "" "" "CDH23(NM_022124.6):c.6275C>T (p.T2092I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71793203C>T" "" "likely benign" "" "0000264437" "0" "10" "10" "73553114" "73553114" "subst" "0.000207176" "02330" "CDH23_000537" "g.73553114G>A" "" "" "" "CDH23(NM_022124.6):c.6429G>A (p.T2143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71793357G>A" "" "benign" "" "0000264438" "0" "50" "10" "73553149" "73553149" "subst" "2.03158E-5" "02330" "CDH23_000538" "g.73553149C>T" "" "" "" "CDH23(NM_022124.6):c.6464C>T (p.S2155L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71793392C>T" "" "VUS" "" "0000264439" "0" "10" "10" "73553153" "73553153" "subst" "0" "02330" "CDH23_000539" "g.73553153C>A" "" "" "" "CDH23(NM_022124.6):c.6468C>A (p.G2156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71793396C>A" "" "benign" "" "0000264440" "0" "10" "10" "73553281" "73553281" "subst" "0.000939269" "02330" "CDH23_000541" "g.73553281T>A" "" "" "" "CDH23(NM_022124.6):c.6596T>A (p.I2199N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71793524T>A" "" "benign" "" "0000264441" "0" "10" "10" "73199674" "73199674" "subst" "0.00104798" "02330" "CDH23_000463" "g.73199674G>A" "" "" "" "CDH23(NM_022124.6):c.67+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71439917G>A" "" "benign" "" "0000264442" "0" "10" "10" "73558133" "73558133" "subst" "0.00443908" "02330" "CDH23_000543" "g.73558133G>C" "" "" "" "CDH23(NM_022124.5):c.6852G>C (p.L2284=), CDH23(NM_022124.6):c.6852G>C (p.L2284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71798376G>C" "" "benign" "" "0000264443" "0" "10" "10" "73558199" "73558199" "subst" "0.00322164" "02330" "CDH23_000544" "g.73558199G>A" "" "" "" "CDH23(NM_022124.5):c.6918G>A (p.L2306=), CDH23(NM_022124.6):c.6918G>A (p.L2306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71798442G>A" "" "benign" "" "0000264444" "0" "10" "10" "73558271" "73558271" "subst" "0.00144049" "02330" "CDH23_000545" "g.73558271G>T" "" "" "" "CDH23(NM_022124.5):c.6990G>T (p.L2330=), CDH23(NM_022124.6):c.6990G>T (p.L2330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71798514G>T" "" "benign" "" "0000264445" "0" "10" "10" "73558944" "73558944" "subst" "2.84271E-5" "02330" "CDH23_000547" "g.73558944C>T" "" "" "" "CDH23(NM_022124.5):c.7131C>T (p.N2377=), CDH23(NM_022124.6):c.7131C>T (p.N2377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71799187C>T" "" "benign" "" "0000264446" "0" "50" "10" "73337678" "73337678" "subst" "3.19148E-5" "02330" "CDH23_000475" "g.73337678C>T" "" "" "" "CDH23(NM_022124.6):c.761C>T (p.T254M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71577921C>T" "" "VUS" "" "0000264447" "0" "10" "10" "73562850" "73562850" "subst" "0" "02330" "CDH23_000550" "g.73562850G>A" "" "" "" "CDH23(NM_022124.6):c.7660+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71803093G>A" "" "benign" "" "0000264448" "0" "10" "10" "73563027" "73563027" "subst" "0.00249238" "02330" "CDH23_000551" "g.73563027C>T" "" "" "" "CDH23(NM_022124.5):c.7722C>T (p.Y2574=), CDH23(NM_022124.6):c.7722C>T (p.Y2574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71803270C>T" "" "benign" "" "0000264449" "0" "30" "10" "73565980" "73565980" "subst" "0.00128496" "02330" "CDH23_000555" "g.73565980C>T" "" "" "" "CDH23(NM_001171933.1):c.1400C>T (p.(Pro467Leu)), CDH23(NM_022124.6):c.8120C>T (p.P2707L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71806223C>T" "" "likely benign" "" "0000264450" "0" "10" "10" "73565981" "73565981" "subst" "0.00129508" "02330" "CDH23_000556" "g.73565981G>T" "" "" "" "CDH23(NM_022124.6):c.8121G>T (p.P2707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71806224G>T" "" "benign" "" "0000264451" "0" "10" "10" "73567433" "73567433" "subst" "0" "02330" "CDH23_000560" "g.73567433G>C" "" "" "" "CDH23(NM_022124.6):c.8469G>C (p.L2823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71807676G>C" "" "benign" "" "0000264452" "0" "10" "10" "73567607" "73567607" "subst" "4.94484E-5" "02330" "CDH23_000562" "g.73567607G>A" "" "" "" "CDH23(NM_022124.6):c.8565G>A (p.V2855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71807850G>A" "" "benign" "" "0000264453" "0" "10" "10" "73569677" "73569677" "subst" "0.000477072" "02330" "CDH23_000564" "g.73569677C>T" "" "" "" "CDH23(NM_022124.5):c.8823C>T (p.N2941=), CDH23(NM_022124.6):c.8823C>T (p.N2941=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71809920C>T" "" "benign" "" "0000264454" "0" "10" "10" "73570217" "73570217" "subst" "0.00132867" "02330" "CDH23_000565" "g.73570217C>T" "" "" "" "CDH23(NM_022124.6):c.8980-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71810460C>T" "" "benign" "" "0000264455" "0" "50" "10" "73570251" "73570251" "subst" "3.24886E-5" "02330" "CDH23_000566" "g.73570251G>A" "" "" "" "CDH23(NM_022124.6):c.9002G>A (p.R3001Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71810494G>A" "" "VUS" "" "0000264456" "0" "10" "10" "73570263" "73570263" "subst" "0.00131172" "02330" "CDH23_000567" "g.73570263C>G" "" "" "" "CDH23(NM_001171933.1):c.2294C>G (p.(Ala765Gly)), CDH23(NM_022124.5):c.9014C>G (p.A3005G), CDH23(NM_022124.6):c.9014C>G (p.A3005G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71810506C>G" "" "benign" "" "0000264457" "0" "10" "10" "73570264" "73570264" "subst" "0.0036183" "02330" "CDH23_000568" "g.73570264G>A" "" "" "" "CDH23(NM_022124.6):c.9015G>A (p.A3005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71810507G>A" "" "benign" "" "0000264458" "0" "10" "10" "73571264" "73571264" "subst" "4.06375E-6" "02330" "CDH23_000572" "g.73571264G>C" "" "" "" "CDH23(NM_022124.6):c.9199-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71811507G>C" "" "benign" "" "0000264459" "0" "10" "10" "73571273" "73571273" "subst" "0.000629846" "02330" "CDH23_000573" "g.73571273G>A" "" "" "" "CDH23(NM_022124.6):c.9204G>A (p.A3068=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71811516G>A" "" "benign" "" "0000264460" "0" "10" "10" "73571307" "73571307" "subst" "0.00138975" "02330" "CDH23_000574" "g.73571307G>A" "" "" "" "CDH23(NM_001171933.1):c.2518G>A (p.(Ala840Thr)), CDH23(NM_022124.5):c.9238G>A (p.A3080T), CDH23(NM_022124.6):c.9238G>A (p.A3080T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71811550G>A" "" "benign" "" "0000264461" "0" "50" "10" "73572303" "73572303" "subst" "1.62569E-5" "02330" "CDH23_000577" "g.73572303G>T" "" "" "" "CDH23(NM_022124.6):c.9447G>T (p.E3149D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71812546G>T" "" "VUS" "" "0000264462" "0" "10" "10" "73572306" "73572306" "subst" "1.62557E-5" "02330" "CDH23_000578" "g.73572306T>C" "" "" "" "CDH23(NM_022124.6):c.9450T>C (p.D3150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71812549T>C" "" "benign" "" "0000264463" "0" "10" "10" "73572380" "73572380" "subst" "0.000207623" "02330" "CDH23_000579" "g.73572380G>A" "" "" "" "CDH23(NM_022124.6):c.9510+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71812623G>A" "" "benign" "" "0000264465" "0" "50" "10" "73572643" "73572643" "subst" "0.000342922" "02330" "CDH23_000582" "g.73572643T>C" "" "" "" "CDH23(NM_022124.5):c.9629T>C (p.I3210T), CDH23(NM_022124.6):c.9629T>C (p.I3210T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71812886T>C" "" "VUS" "" "0000264466" "0" "10" "10" "73574873" "73574873" "subst" "0.00179088" "02330" "CDH23_000586" "g.73574873C>T" "" "" "" "CDH23(NM_022124.5):c.9903C>T (p.P3301=), CDH23(NM_022124.6):c.9903C>T (p.P3301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71815116C>T" "" "benign" "" "0000266599" "0" "10" "10" "73455201" "73455201" "subst" "0.628345" "02325" "CDH23_000494" "g.73455201T>C" "" "" "" "CDH23(NM_022124.6):c.2316T>C (p.N772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71695444T>C" "" "benign" "" "0000266600" "0" "10" "10" "73455273" "73455273" "subst" "0.628055" "02325" "CDH23_000496" "g.73455273T>C" "" "" "" "CDH23(NM_022124.6):c.2388T>C (p.D796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71695516T>C" "" "benign" "" "0000266601" "0" "10" "10" "73472868" "73472868" "subst" "0.316144" "02325" "CDH23_000663" "g.73472868C>G" "" "" "" "C10orf105(NM_001164375.3):c.*2825G>C, CDH23(NM_022124.6):c.3369+298C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71713111C>G" "" "benign" "" "0000266602" "0" "10" "10" "73472882" "73472882" "subst" "0.313928" "02325" "CDH23_000664" "g.73472882C>T" "" "" "" "C10orf105(NM_001164375.3):c.*2811G>A, CDH23(NM_022124.6):c.3369+312C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71713125C>T" "" "benign" "" "0000266603" "0" "10" "10" "73270906" "73270906" "subst" "0.661472" "02325" "CDH23_000468" "g.73270906T>C" "" "" "" "CDH23(NM_022124.6):c.366T>C (p.V122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71511149T>C" "" "benign" "" "0000266604" "0" "10" "10" "73270982" "73270982" "subst" "0.658981" "02325" "CDH23_000470" "g.73270982G>A" "" "" "" "CDH23(NM_022124.6):c.429+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71511225G>A" "" "benign" "" "0000266605" "0" "10" "10" "73501556" "73501556" "subst" "0.773404" "02325" "CDH23_000508" "g.73501556G>A" "" "" "" "CDH23(NM_022124.6):c.4723G>A (p.A1575T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71741799G>A" "" "benign" "" "0000266606" "0" "10" "10" "73550117" "73550117" "subst" "0.423751" "02325" "CDH23_000531" "g.73550117C>G" "" "" "" "CDH23(NM_022124.6):c.5996C>G (p.T1999S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71790360C>G" "" "benign" "" "0000272914" "0" "30" "10" "73377112" "73377112" "subst" "0.00729672" "01943" "CDH23_000039" "g.73377112G>A" "" "" "" "CDH23(NM_001171930.1):c.1096G>A (p.(Ala366Thr)), CDH23(NM_022124.5):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71617355G>A" "" "likely benign" "" "0000272915" "0" "30" "10" "73406242" "73406242" "subst" "1.62534E-5" "01943" "CDH23_000481" "g.73406242C>T" "" "" "" "CDH23(NM_022124.5):c.1317C>T (p.D439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71646485C>T" "" "likely benign" "" "0000272916" "0" "50" "10" "73406499" "73406499" "subst" "4.17268E-6" "01943" "CDH23_000482" "g.73406499T>A" "" "" "" "CDH23(NM_052836.3):c.1574T>A (p.L525Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71646742T>A" "" "VUS" "" "0000272917" "0" "50" "10" "73437293" "73437293" "subst" "0.000581525" "01943" "CDH23_000483" "g.73437293C>T" "" "" "" "CDH23(NM_022124.5):c.1595C>T (p.T532M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71677536C>T" "" "VUS" "" "0000272918" "0" "10" "10" "73269891" "73269891" "subst" "0.00460128" "01943" "CDH23_000465" "g.73269891G>A" "" "" "" "CDH23(NM_022124.5):c.198G>A (p.V66=), CDH23(NM_022124.6):c.198G>A (p.V66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71510134G>A" "" "benign" "" "0000272919" "0" "30" "10" "73269897" "73269897" "subst" "0.00444307" "01943" "CDH23_000466" "g.73269897C>T" "" "" "" "CDH23(NM_022124.5):c.204C>T (p.G68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71510140C>T" "" "likely benign" "" "0000272920" "0" "30" "10" "73450277" "73450277" "subst" "6.62488E-5" "01943" "CDH23_000489" "g.73450277C>T" "" "" "" "CDH23(NM_022124.5):c.2112C>T (p.Y704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71690520C>T" "" "likely benign" "" "0000272921" "0" "50" "10" "73453966" "73453966" "subst" "0.001073" "01943" "CDH23_000491" "g.73453966C>T" "" "" "" "CDH23(NM_022124.5):c.2239C>T (p.R747C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71694209C>T" "" "VUS" "" "0000272922" "0" "50" "10" "73269920" "73269920" "subst" "2.03087E-5" "01943" "CDH23_000467" "g.73269920G>A" "" "" "" "CDH23(NM_022124.5):c.227G>A (p.R76H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71510163G>A" "" "VUS" "" "0000272923" "0" "50" "10" "73468926" "73468926" "subst" "0.000483944" "01943" "CDH23_000659" "g.73468926C>T" "" "" "" "CDH23(NM_022124.5):c.3178C>T (p.R1060W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71709169C>T" "" "VUS" "" "0000272924" "0" "10" "10" "73472450" "73472450" "subst" "0.00152609" "01943" "CDH23_000661" "g.73472450G>A" "" "" "" "CDH23(NM_022124.5):c.3249G>A (p.T1083=), CDH23(NM_022124.6):c.3249G>A (p.T1083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71712693G>A" "" "benign" "" "0000272925" "0" "50" "10" "73485180" "73485180" "subst" "2.03138E-5" "01943" "CDH23_000665" "g.73485180G>A" "" "" "" "CDH23(NM_022124.5):c.3482G>A (p.R1161Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71725423G>A" "" "VUS" "" "0000272926" "0" "50" "10" "73485206" "73485206" "subst" "0.000142297" "01943" "CDH23_000666" "g.73485206C>T" "" "" "" "CDH23(NM_022124.5):c.3508C>T (p.R1170W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71725449C>T" "" "VUS" "" "0000272927" "0" "50" "10" "73490244" "73490244" "subst" "0" "01943" "CDH23_000668" "g.73490244G>A" "" "" "" "CDH23(NM_022124.5):c.3598G>A (p.D1200N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71730487G>A" "" "VUS" "" "0000272928" "0" "50" "10" "73492011" "73492011" "subst" "1.22112E-5" "01943" "CDH23_000670" "g.73492011T>C" "" "" "" "CDH23(NM_022124.5):c.3983T>C (p.L1328P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71732254T>C" "" "VUS" "" "0000272929" "0" "30" "10" "73492027" "73492027" "subst" "0.00311003" "01943" "CDH23_000671" "g.73492027G>A" "" "" "" "C10orf105(NM_001168390.2):c.-6+5458C>T, CDH23(NM_022124.5):c.3999G>A (p.V1333=), CDH23(NM_022124.6):c.3999G>A (p.V1333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71732270G>A" "" "likely benign" "" "0000272930" "0" "10" "10" "73492096" "73492096" "subst" "0.00220714" "01943" "CDH23_000501" "g.73492096C>G" "" "" "" "C10orf105(NM_001168390.2):c.-6+5389G>C, CDH23(NM_022124.5):c.4068C>G (p.T1356=), CDH23(NM_022124.6):c.4068C>G (p.T1356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71732339C>G" "" "benign" "" "0000272931" "0" "50" "10" "73498276" "73498276" "subst" "9.34018E-5" "01943" "CDH23_000503" "g.73498276G>A" "" "" "" "CDH23(NM_022124.5):c.4231G>A (p.E1411K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71738519G>A" "" "VUS" "" "0000272932" "0" "30" "10" "73499536" "73499536" "subst" "0.000190841" "01943" "CDH23_000505" "g.73499536C>T" "" "" "" "CDH23(NM_022124.5):c.4488+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71739779C>T" "" "likely benign" "" "0000272933" "0" "50" "10" "73501481" "73501481" "subst" "0" "01943" "CDH23_000507" "g.73501481G>T" "" "" "" "CDH23(NM_022124.5):c.4648G>T (p.V1550L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71741724G>T" "" "VUS" "" "0000272934" "0" "50" "10" "73501613" "73501613" "subst" "0.000117277" "01943" "CDH23_000509" "g.73501613C>T" "" "" "" "CDH23(NM_022124.5):c.4780C>T (p.R1594C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71741856C>T" "" "VUS" "" "0000272935" "0" "10" "10" "73537449" "73537449" "subst" "0.0173057" "01943" "CDH23_000512" "g.73537449G>A" "" "" "" "CDH23(NM_022124.5):c.4858G>A (p.V1620M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71777692G>A" "" "benign" "" "0000272936" "0" "10" "10" "73537466" "73537466" "subst" "0.000813315" "01943" "CDH23_000513" "g.73537466G>A" "" "" "" "CDH23(NM_022124.5):c.4875G>A (p.V1625=), CDH23(NM_022124.6):c.4875G>A (p.V1625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71777709G>A" "" "benign" "" "0000272937" "0" "50" "10" "73537483" "73537483" "subst" "0.000775916" "01943" "CDH23_000514" "g.73537483C>T" "" "" "" "CDH23(NM_022124.5):c.4892C>T (p.A1631V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71777726C>T" "" "VUS" "" "0000272938" "0" "30" "10" "73326579" "73326579" "subst" "0.00275913" "01943" "CDH23_000472" "g.73326579C>T" "" "" "" "CDH23(NM_022124.5):c.510C>T (p.S170=), CDH23(NM_022124.6):c.510C>T (p.S170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71566822C>T" "" "likely benign" "" "0000272939" "0" "30" "10" "73326594" "73326594" "subst" "4.06227E-6" "01943" "CDH23_000473" "g.73326594C>T" "" "" "" "CDH23(NM_022124.5):c.525C>T (p.S175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71566837C>T" "" "likely benign" "" "0000272940" "0" "30" "10" "73539148" "73539148" "subst" "0.000748966" "01943" "CDH23_000520" "g.73539148G>A" "" "" "" "CDH23(NM_022124.5):c.5312G>A (p.R1771Q, p.(Arg1771Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71779391G>A" "" "likely benign" "" "0000272941" "0" "50" "10" "73544118" "73544118" "subst" "2.84393E-5" "01943" "CDH23_000522" "g.73544118G>A" "" "" "" "CDH23(NM_022124.5):c.5443G>A (p.A1815T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71784361G>A" "" "VUS" "" "0000272942" "0" "50" "10" "73544663" "73544663" "subst" "1.62466E-5" "01943" "CDH23_000523" "g.73544663C>T" "" "" "" "CDH23(NM_022124.5):c.5518C>T (p.R1840W), CDH23(NM_022124.6):c.5518C>T (p.R1840W, p.(Arg1840Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71784906C>T" "" "VUS" "" "0000272943" "0" "30" "10" "73544686" "73544686" "subst" "0.00282234" "01943" "CDH23_000524" "g.73544686C>T" "" "" "" "CDH23(NM_022124.5):c.5541C>T (p.N1847=), CDH23(NM_022124.6):c.5541C>T (p.N1847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71784929C>T" "" "likely benign" "" "0000272944" "0" "30" "10" "73544689" "73544689" "subst" "0.00369134" "01943" "CDH23_000525" "g.73544689C>T" "" "" "" "CDH23(NM_022124.5):c.5544C>T (p.D1848=), CDH23(NM_022124.6):c.5544C>T (p.D1848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71784932C>T" "" "likely benign" "" "0000272945" "0" "50" "10" "73544708" "73544708" "subst" "4.06081E-6" "01943" "CDH23_000526" "g.73544708C>T" "" "" "" "CDH23(NM_022124.5):c.5563C>T (p.P1855S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71784951C>T" "" "VUS" "" "0000272946" "0" "30" "10" "73544740" "73544740" "subst" "4.06078E-6" "01943" "CDH23_000527" "g.73544740T>A" "" "" "" "CDH23(NM_022124.5):c.5595T>A (p.P1865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71784983T>A" "" "likely benign" "" "0000272947" "0" "50" "10" "73544789" "73544789" "subst" "8.12341E-6" "01943" "CDH23_000528" "g.73544789T>G" "" "" "" "CDH23(NM_022124.5):c.5644T>G (p.C1882G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71785032T>G" "" "VUS" "" "0000272949" "0" "30" "10" "73550058" "73550058" "subst" "9.0141E-5" "01943" "CDH23_000530" "g.73550058G>A" "" "" "" "CDH23(NM_022124.5):c.5937G>A (p.T1979=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71790301G>A" "" "likely benign" "" "0000272950" "0" "90" "10" "73550880" "73550880" "subst" "4.96915E-5" "01943" "CDH23_000532" "g.73550880G>A" "" "" "" "CDH23(NM_022124.5):c.6050-9G>A, CDH23(NM_022124.6):c.6050-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000272951" "0" "10" "10" "73550969" "73550969" "subst" "0.308827" "01943" "CDH23_000533" "g.73550969G>A" "" "" "" "CDH23(NM_022124.5):c.6130G>A (p.E2044K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71791212G>A" "" "benign" "" "0000272952" "0" "50" "10" "73553005" "73553005" "subst" "3.66047E-5" "01943" "CDH23_000536" "g.73553005G>A" "" "" "" "CDH23(NM_022124.5):c.6320G>A (p.R2107Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71793248G>A" "" "VUS" "" "0000272953" "0" "50" "10" "73553232" "73553232" "subst" "5.28485E-5" "01943" "CDH23_000540" "g.73553232G>A" "" "" "" "CDH23(NM_022124.5):c.6547G>A (p.V2183M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71793475G>A" "" "VUS" "" "0000272954" "0" "50" "10" "73553374" "73553374" "subst" "1.72643E-5" "01943" "CDH23_000542" "g.73553374C>G" "" "" "" "CDH23(NM_022124.5):c.6689C>G (p.A2230G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71793617C>G" "" "VUS" "" "0000272955" "0" "30" "10" "73558133" "73558133" "subst" "0.00443908" "01943" "CDH23_000543" "g.73558133G>C" "" "" "" "CDH23(NM_022124.5):c.6852G>C (p.L2284=), CDH23(NM_022124.6):c.6852G>C (p.L2284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71798376G>C" "" "likely benign" "" "0000272956" "0" "10" "10" "73558199" "73558199" "subst" "0.00322164" "01943" "CDH23_000544" "g.73558199G>A" "" "" "" "CDH23(NM_022124.5):c.6918G>A (p.L2306=), CDH23(NM_022124.6):c.6918G>A (p.L2306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71798442G>A" "" "benign" "" "0000272957" "0" "50" "10" "73558927" "73558927" "subst" "4.06105E-5" "01943" "CDH23_000546" "g.73558927G>A" "" "" "" "CDH23(NM_022124.5):c.7114G>A (p.V2372M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71799170G>A" "" "VUS" "" "0000272958" "0" "30" "10" "73558944" "73558944" "subst" "2.84271E-5" "01943" "CDH23_000547" "g.73558944C>T" "" "" "" "CDH23(NM_022124.5):c.7131C>T (p.N2377=), CDH23(NM_022124.6):c.7131C>T (p.N2377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71799187C>T" "" "likely benign" "" "0000272959" "0" "50" "10" "73558961" "73558961" "subst" "0" "01943" "CDH23_000548" "g.73558961C>A" "" "" "" "CDH23(NM_022124.5):c.7148C>A (p.A2383E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71799204C>A" "" "VUS" "" "0000272960" "0" "50" "10" "73560498" "73560498" "subst" "0.00030891" "01943" "CDH23_000549" "g.73560498G>A" "" "" "" "CDH23(NM_022124.5):c.7468G>A (p.E2490K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71800741G>A" "" "VUS" "" "0000272961" "0" "50" "10" "73337684" "73337684" "subst" "0.000619345" "01943" "CDH23_000476" "g.73337684G>A" "" "" "" "CDH23(NM_022124.5):c.767G>A (p.R256H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71577927G>A" "" "VUS" "" "0000272962" "0" "30" "10" "73563027" "73563027" "subst" "0.00249238" "01943" "CDH23_000551" "g.73563027C>T" "" "" "" "CDH23(NM_022124.5):c.7722C>T (p.Y2574=), CDH23(NM_022124.6):c.7722C>T (p.Y2574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71803270C>T" "" "likely benign" "" "0000272963" "0" "10" "10" "73563067" "73563067" "subst" "0.00917713" "01943" "CDH23_000552" "g.73563067G>C" "" "" "" "CDH23(NM_022124.5):c.7762G>C (p.E2588Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71803310G>C" "" "benign" "" "0000272964" "0" "30" "10" "73565712" "73565712" "subst" "0.0052857" "01943" "CDH23_000554" "g.73565712G>A" "" "" "" "CDH23(NM_022124.5):c.8022G>A (p.Q2674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71805955G>A" "" "likely benign" "" "0000272965" "0" "50" "10" "73337722" "73337722" "subst" "0" "01943" "CDH23_000477" "g.73337722C>T" "" "" "" "CDH23(NM_022124.5):c.805C>T (p.R269W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71577965C>T" "" "VUS" "" "0000272966" "0" "30" "10" "73566027" "73566027" "subst" "0.000287202" "01943" "CDH23_000557" "g.73566027G>C" "" "" "" "CDH23(NM_001171933.1):c.1447G>C (p.(Val483Leu)), CDH23(NM_022124.5):c.8167G>C (p.V2723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71806270G>C" "" "likely benign" "" "0000272967" "0" "90" "10" "73567063" "73567064" "del" "0" "01943" "CDH23_000558" "g.73567063_73567064del" "" "" "" "CDH23(NM_022124.5):c.8208_8209delAG (p.V2737Afs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000272968" "0" "50" "10" "73567275" "73567275" "subst" "0.00038389" "01943" "CDH23_000559" "g.73567275G>A" "" "" "" "CDH23(NM_022124.5):c.8311G>A (p.G2771S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71807518G>A" "" "VUS" "" "0000272969" "0" "50" "10" "73567494" "73567494" "subst" "0" "01943" "CDH23_000561" "g.73567494C>A" "" "" "" "CDH23(NM_022124.5):c.8530C>A (p.P2844T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71807737C>A" "" "VUS" "" "0000272970" "0" "50" "10" "73569585" "73569585" "subst" "0" "01943" "CDH23_000563" "g.73569585G>A" "" "" "" "CDH23(NM_022124.5):c.8731G>A (p.D2911N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71809828G>A" "" "VUS" "" "0000272971" "0" "50" "10" "73570298" "73570298" "subst" "2.84271E-5" "01943" "CDH23_000569" "g.73570298G>A" "" "" "" "CDH23(NM_022124.5):c.9049G>A (p.D3017N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71810541G>A" "" "VUS" "" "0000272972" "0" "50" "10" "73570308" "73570308" "subst" "2.03085E-5" "01943" "CDH23_000570" "g.73570308G>A" "" "" "" "CDH23(NM_022124.5):c.9059G>A (p.R3020H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71810551G>A" "" "VUS" "" "0000272973" "0" "10" "10" "73570333" "73570333" "subst" "0.00147978" "01943" "CDH23_000571" "g.73570333C>T" "" "" "" "CDH23(NM_022124.5):c.9077+7C>T, CDH23(NM_022124.6):c.9077+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71810576C>T" "" "benign" "" "0000272974" "0" "30" "10" "73572294" "73572294" "subst" "0.000321136" "01943" "CDH23_000576" "g.73572294G>A" "" "" "" "CDH23(NM_022124.5):c.9438G>A (p.A3146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71812537G>A" "" "likely benign" "" "0000272975" "0" "70" "10" "73572583" "73572583" "subst" "0.000326344" "01943" "CDH23_000581" "g.73572583C>T" "" "" "" "CDH23(NM_022124.5):c.9569C>T (p.A3190V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71812826C>T" "" "likely pathogenic" "" "0000272976" "0" "30" "10" "73573112" "73573112" "subst" "1.3258E-5" "01943" "CDH23_000584" "g.73573112G>C" "" "" "" "CDH23(NM_022124.5):c.9738+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71813355G>C" "" "likely benign" "" "0000272977" "0" "50" "10" "73574874" "73574874" "subst" "5.02694E-5" "01943" "CDH23_000587" "g.73574874G>A" "" "" "" "CDH23(NM_022124.5):c.9904G>A (p.E3302K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71815117G>A" "" "VUS" "" "0000297410" "0" "30" "10" "73580002" "73580002" "subst" "3.24844E-5" "02325" "PSAP_000013" "g.73580002T>A" "" "" "" "PSAP(NM_001042465.3):c.1009A>T (p.T337S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71820245T>A" "" "likely benign" "" "0000321593" "0" "50" "10" "73405729" "73405729" "subst" "0.000493454" "01804" "CDH23_000480" "g.73405729G>A" "" "" "" "CDH23(NM_001171930.1):c.1282G>A (p.(Asp428Asn)), CDH23(NM_022124.5):c.1282G>A (p.D428N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71645972G>A" "" "VUS" "" "0000321595" "0" "50" "10" "73464764" "73464764" "subst" "0.0012298" "01804" "CDH23_000607" "g.73464764A>G" "" "" "" "CDH23(NM_001171930.1):c.2830A>G (p.(Ser944Gly)), CDH23(NM_022124.5):c.2830A>G (p.S944G), CDH23(NM_022124.6):c.2830A>G (p.S944G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71705007A>G" "" "VUS" "" "0000321596" "0" "50" "10" "73472506" "73472506" "subst" "4.0834E-6" "01804" "CDH23_000713" "g.73472506T>A" "" "" "" "CDH23(NM_001171930.1):c.3305T>A (p.(Phe1102Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71712749T>A" "" "VUS" "" "0000321597" "0" "50" "10" "73500679" "73500679" "subst" "0.00130362" "01804" "CDH23_000506" "g.73500679C>T" "" "" "" "CDH23(NM_022124.5):c.4589C>T (p.P1530L, p.(Pro1530Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71740922C>T" "" "VUS" "" "0000321598" "0" "50" "10" "73511604" "73511604" "subst" "0.00142761" "01804" "CDH23_000510" "g.73511604A>G" "" "" "" "C10orf54(NM_022153.1):c.719T>C (p.(Ile240Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71751847A>G" "" "VUS" "" "0000321599" "0" "50" "10" "73551036" "73551036" "subst" "0.00565298" "01804" "CDH23_000534" "g.73551036G>A" "" "" "" "CDH23(NM_001171933.1):c.-4809G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71791279G>A" "" "VUS" "" "0000321600" "0" "50" "10" "73565980" "73565980" "subst" "0.00128496" "01804" "CDH23_000555" "g.73565980C>T" "" "" "" "CDH23(NM_001171933.1):c.1400C>T (p.(Pro467Leu)), CDH23(NM_022124.6):c.8120C>T (p.P2707L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71806223C>T" "" "VUS" "" "0000321601" "0" "50" "10" "73570263" "73570263" "subst" "0.00131172" "01804" "CDH23_000567" "g.73570263C>G" "" "" "" "CDH23(NM_001171933.1):c.2294C>G (p.(Ala765Gly)), CDH23(NM_022124.5):c.9014C>G (p.A3005G), CDH23(NM_022124.6):c.9014C>G (p.A3005G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71810506C>G" "" "VUS" "" "0000321602" "0" "50" "10" "73571307" "73571307" "subst" "0.00138975" "01804" "CDH23_000574" "g.73571307G>A" "" "" "" "CDH23(NM_001171933.1):c.2518G>A (p.(Ala840Thr)), CDH23(NM_022124.5):c.9238G>A (p.A3080T), CDH23(NM_022124.6):c.9238G>A (p.A3080T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71811550G>A" "" "VUS" "" "0000321604" "0" "50" "10" "73573037" "73573037" "subst" "0.000844628" "01804" "CDH23_000583" "g.73573037C>T" "" "" "" "CDH23(NM_001171933.1):c.2950C>T (p.(Arg984Trp)), CDH23(NM_022124.5):c.9670C>T (p.R3224W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71813280C>T" "" "VUS" "" "0000321605" "0" "50" "10" "73574728" "73574728" "subst" "0.00290095" "01804" "CDH23_000585" "g.73574728A>C" "" "" "" "CDH23(NM_001171933.1):c.3038A>C (p.(Asp1013Ala)), CDH23(NM_022124.5):c.9758A>C (p.D3253A), CDH23(NM_022124.6):c.9758A>C (p.D3253A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71814971A>C" "" "VUS" "" "0000338672" "0" "30" "10" "73156823" "73156823" "subst" "0" "02327" "CDH23_000588" "g.73156823G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71397066G>A" "" "likely benign" "" "0000338674" "0" "10" "10" "73199588" "73199588" "subst" "0.0366128" "02327" "CDH23_000590" "g.73199588C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71439831C>T" "" "benign" "" "0000338675" "0" "10" "10" "73270982" "73270982" "subst" "0.658981" "02327" "CDH23_000470" "g.73270982G>A" "" "" "" "CDH23(NM_022124.6):c.429+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71511225G>A" "" "benign" "" "0000338676" "0" "90" "10" "73326694" "73326694" "subst" "0" "02327" "CDH23_000594" "g.73326694G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71566937G>T" "" "pathogenic" "" "0000338677" "0" "10" "10" "73490214" "73490214" "subst" "0.0121849" "02327" "CDH23_000612" "g.73490214C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71730457C>T" "" "benign" "" "0000338678" "0" "10" "10" "73544638" "73544638" "subst" "0.199327" "02327" "CDH23_000632" "g.73544638A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71784881A>G" "" "benign" "" "0000338679" "0" "90" "10" "73544857" "73544857" "subst" "8.15089E-6" "02327" "CDH23_000635" "g.73544857G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71785100G>A" "" "pathogenic" "" "0000338680" "0" "10" "10" "73558852" "73558852" "subst" "0.340402" "02327" "CDH23_000641" "g.73558852A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71799095A>G" "" "benign" "" "0000338681" "0" "10" "10" "73570215" "73570215" "subst" "0.0068482" "02327" "CDH23_000650" "g.73570215C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71810458C>A" "" "benign" "" "0000338682" "0" "10" "10" "73570334" "73570334" "subst" "0.168266" "02327" "CDH23_000651" "g.73570334G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71810577G>A" "" "benign" "" "0000338683" "0" "10" "10" "73571521" "73571521" "subst" "0.111101" "02327" "CDH23_000653" "g.73571521G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71811764G>A" "" "benign" "" "0000340408" "0" "10" "10" "73270906" "73270906" "subst" "0.661472" "02327" "CDH23_000468" "g.73270906T>C" "" "" "" "CDH23(NM_022124.6):c.366T>C (p.V122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71511149T>C" "" "benign" "" "0000340409" "0" "10" "10" "73455201" "73455201" "subst" "0.628345" "02327" "CDH23_000494" "g.73455201T>C" "" "" "" "CDH23(NM_022124.6):c.2316T>C (p.N772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71695444T>C" "" "benign" "" "0000340410" "0" "10" "10" "73455273" "73455273" "subst" "0.628055" "02327" "CDH23_000496" "g.73455273T>C" "" "" "" "CDH23(NM_022124.6):c.2388T>C (p.D796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71695516T>C" "" "benign" "" "0000340411" "0" "10" "10" "73461805" "73461805" "subst" "0.043371" "02327" "CDH23_000604" "g.73461805G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71702048G>A" "" "benign" "" "0000340412" "0" "10" "10" "73466709" "73466709" "subst" "0.102686" "02327" "CDH23_000610" "g.73466709T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71706952T>C" "" "benign" "" "0000340413" "0" "10" "10" "73491829" "73491829" "subst" "0.00141327" "02327" "CDH23_000615" "g.73491829C>T" "" "" "" "CDH23(NM_022124.5):c.3801C>T (p.T1267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71732072C>T" "" "benign" "" "0000340414" "0" "10" "10" "73537978" "73537978" "subst" "0.186637" "02327" "CDH23_000027" "g.73537978C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71778221C>T" "" "benign" "" "0000340415" "0" "30" "10" "73558133" "73558133" "subst" "0.00443908" "02327" "CDH23_000543" "g.73558133G>C" "" "" "" "CDH23(NM_022124.5):c.6852G>C (p.L2284=), CDH23(NM_022124.6):c.6852G>C (p.L2284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71798376G>C" "" "likely benign" "" "0000340416" "0" "10" "10" "73560497" "73560497" "subst" "0.0119921" "02327" "CDH23_000645" "g.73560497C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71800740C>T" "" "benign" "" "0000340417" "0" "10" "10" "73562744" "73562744" "subst" "0.310132" "02327" "CDH23_000646" "g.73562744G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71802987G>A" "" "benign" "" "0000340418" "0" "10" "10" "73569749" "73569749" "subst" "0.110706" "02327" "CDH23_000649" "g.73569749C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71809992C>T" "" "benign" "" "0000340419" "0" "10" "10" "73574843" "73574843" "subst" "0.132127" "02327" "CDH23_000656" "g.73574843G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71815086G>A" "" "benign" "" "0000340420" "0" "30" "10" "73580036" "73580036" "subst" "6.90294E-5" "02327" "PSAP_000015" "g.73580036C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71820279C>T" "" "likely benign" "" "0000340947" "0" "50" "10" "73501678" "73501678" "subst" "0" "02327" "CDH23_000625" "g.73501678G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71741921G>A" "" "VUS" "" "0000341000" "0" "50" "10" "73559386" "73559386" "subst" "4.06138E-6" "02327" "CDH23_000644" "g.73559386G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71799629G>A" "" "VUS" "" "0000341139" "0" "10" "10" "73490310" "73490310" "subst" "0.0210478" "02327" "CDH23_000613" "g.73490310G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71730553G>A" "" "benign" "" "0000341194" "0" "10" "10" "73501556" "73501556" "subst" "0.773404" "02327" "CDH23_000508" "g.73501556G>A" "" "" "" "CDH23(NM_022124.6):c.4723G>A (p.A1575T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71741799G>A" "" "benign" "" "0000341400" "0" "10" "10" "73377112" "73377112" "subst" "0.00729672" "02327" "CDH23_000039" "g.73377112G>A" "" "" "" "CDH23(NM_001171930.1):c.1096G>A (p.(Ala366Thr)), CDH23(NM_022124.5):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71617355G>A" "" "benign" "" "0000341802" "0" "90" "10" "73490352" "73490352" "subst" "4.06759E-6" "02327" "CDH23_000614" "g.73490352C>T" "" "" "" "CDH23(NM_022124.5):c.3706C>T (p.R1236*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71730595C>T" "" "pathogenic" "" "0000341924" "0" "90" "10" "73498354" "73498354" "subst" "4.06379E-6" "02327" "CDH23_000618" "g.73498354C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71738597C>T" "" "pathogenic" "" "0000341925" "0" "10" "10" "73498355" "73498355" "subst" "0.0356353" "02327" "CDH23_000619" "g.73498355G>A" "" "" "" "CDH23(NM_022124.5):c.4310G>A (p.(Arg1437Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71738598G>A" "" "benign" "" "0000341956" "0" "90" "10" "73500594" "73500594" "subst" "2.43867E-5" "02327" "CDH23_000622" "g.73500594C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71740837C>T" "" "pathogenic" "" "0000342002" "0" "50" "10" "73501613" "73501613" "subst" "0.000117277" "02327" "CDH23_000509" "g.73501613C>T" "" "" "" "CDH23(NM_022124.5):c.4780C>T (p.R1594C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71741856C>T" "" "VUS" "" "0000342060" "0" "50" "10" "73537995" "73537995" "subst" "6.904E-5" "02327" "CDH23_000628" "g.73537995G>A" "" "" "" "CDH23(NM_022124.6):c.5117G>A (p.R1706H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71778238G>A" "" "VUS" "" "0000342104" "0" "10" "10" "73544086" "73544086" "subst" "0.154801" "02327" "CDH23_000631" "g.73544086G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71784329G>A" "" "benign" "" "0000342127" "0" "50" "10" "73326620" "73326620" "subst" "0.00013001" "02327" "CDH23_000592" "g.73326620G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71566863G>A" "" "VUS" "" "0000342140" "0" "30" "10" "73544798" "73544798" "subst" "4.46773E-5" "02327" "CDH23_000634" "g.73544798C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71785041C>T" "" "likely benign" "" "0000342354" "0" "10" "10" "73558886" "73558886" "subst" "0.314372" "02327" "CDH23_000642" "g.73558886G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71799129G>A" "" "benign" "" "0000342636" "0" "50" "10" "73573037" "73573037" "subst" "0.000844628" "02327" "CDH23_000583" "g.73573037C>T" "" "" "" "CDH23(NM_001171933.1):c.2950C>T (p.(Arg984Trp)), CDH23(NM_022124.5):c.9670C>T (p.R3224W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71813280C>T" "" "VUS" "" "0000342816" "0" "10" "10" "73199595" "73199595" "subst" "0.0453575" "02327" "CDH23_000591" "g.73199595C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71439838C>T" "" "benign" "" "0000342938" "0" "50" "10" "73406294" "73406294" "subst" "4.06108E-6" "02327" "CDH23_000600" "g.73406294C>T" "" "" "" "CDH23(NM_022124.5):c.1369C>T (p.R457W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71646537C>T" "" "VUS" "" "0000343135" "0" "50" "10" "73437448" "73437448" "subst" "3.81049E-5" "02327" "CDH23_000603" "g.73437448C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71677691C>T" "" "VUS" "" "0000343521" "0" "30" "10" "73464825" "73464825" "subst" "0.000222391" "02327" "CDH23_000608" "g.73464825G>A" "" "" "" "CDH23(NM_022124.5):c.2891G>A (p.R964Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71705068G>A" "" "likely benign" "" "0000343562" "0" "30" "10" "73472494" "73472494" "subst" "0.00224305" "02327" "CDH23_000034" "g.73472494A>G" "" "" "" "CDH23(NM_001171930.1):c.3293A>G (p.(Asn1098Ser)), CDH23(NM_022124.5):c.3293A>G (p.N1098S), CDH23(NM_022124.6):c.3293A>G (p.N1098S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71712737A>G" "" "likely benign" "" "0000343593" "0" "10" "10" "73492079" "73492079" "subst" "0.805895" "02327" "CDH23_000617" "g.73492079A>G" "" "" "" "C10orf105(NM_001168390.2):c.-6+5406T>C, CDH23(NM_022124.6):c.4051A>G (p.N1351D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71732322A>G" "" "benign" "" "0000343642" "0" "50" "10" "73550066" "73550066" "subst" "6.95251E-5" "02327" "CDH23_000636" "g.73550066A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71790309A>G" "" "VUS" "" "0000343937" "0" "50" "10" "73501494" "73501494" "subst" "0" "02327" "CDH23_000623" "g.73501494A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71741737A>T" "" "VUS" "" "0000343990" "0" "70" "10" "73553127" "73553127" "subst" "8.93815E-5" "02327" "CDH23_000128" "g.73553127G>A" "" "" "" "CDH23(NM_022124.5):c.6442G>A (p.D2148N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71793370G>A" "" "likely pathogenic" "" "0000344003" "0" "50" "10" "73558134" "73558134" "subst" "0" "02327" "CDH23_000640" "g.73558134G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71798377G>T" "" "VUS" "" "0000344095" "0" "50" "10" "73405737" "73405737" "subst" "8.24001E-6" "02327" "CDH23_000599" "g.73405737T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71645980T>G" "" "VUS" "" "0000344179" "0" "70" "10" "73450261" "73450261" "subst" "0" "02327" "CDH23_000456" "g.73450261A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71690504A>G" "" "likely pathogenic" "" "0000344562" "0" "90" "10" "73499529" "73499529" "subst" "0" "02327" "CDH23_000621" "g.73499529G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic" "" "0000345186" "0" "50" "10" "73539102" "73539102" "subst" "0" "02327" "CDH23_000629" "g.73539102G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71779345G>A" "" "VUS" "" "0000345205" "0" "50" "10" "73544729" "73544729" "subst" "1.21829E-5" "02327" "CDH23_000633" "g.73544729G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71784972G>A" "" "VUS" "" "0000345213" "0" "30" "10" "73326643" "73326643" "subst" "0.000686869" "02327" "CDH23_000593" "g.73326643G>C" "" "" "" "CDH23(NM_022124.5):c.574G>C (p.E192Q), CDH23(NM_022124.6):c.574G>C (p.E192Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71566886G>C" "" "likely benign" "" "0000345225" "0" "10" "10" "73550969" "73550969" "subst" "0.308827" "02327" "CDH23_000533" "g.73550969G>A" "" "" "" "CDH23(NM_022124.5):c.6130G>A (p.E2044K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71791212G>A" "" "benign" "" "0000345290" "0" "50" "10" "73560498" "73560498" "subst" "0.00030891" "02327" "CDH23_000549" "g.73560498G>A" "" "" "" "CDH23(NM_022124.5):c.7468G>A (p.E2490K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71800741G>A" "" "VUS" "" "0000346115" "0" "10" "10" "73434888" "73434888" "subst" "0.201184" "02327" "CDH23_000601" "g.73434888G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71675131G>C" "" "benign" "" "0000346306" "0" "50" "10" "73462309" "73462309" "subst" "8.12308E-6" "02327" "CDH23_000606" "g.73462309G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71702552G>T" "" "VUS" "" "0000346495" "0" "50" "10" "73577211" "73577211" "subst" "0" "02327" "PSAP_000014" "g.73577211T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71817454T>A" "" "VUS" "" "0000346522" "0" "30" "10" "73453990" "73453990" "subst" "0.00218662" "02327" "CDH23_000111" "g.73453990C>T" "" "" "" "CDH23(NM_001171930.1):c.2263C>T (p.(His755Tyr)), CDH23(NM_022124.5):c.2263C>T (p.H755Y), CDH23(NM_022124.6):c.2263C>T (p.H755Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71694233C>T" "" "likely benign" "" "0000346584" "0" "50" "10" "73499446" "73499446" "subst" "0.000314388" "02327" "CDH23_000504" "g.73499446A>G" "" "" "" "CDH23(NM_022124.5):c.4405A>G (p.I1469V), CDH23(NM_022124.6):c.4405A>G (p.I1469V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71739689A>G" "" "VUS" "" "0000346666" "0" "50" "10" "73569731" "73569731" "subst" "4.50823E-5" "02327" "CDH23_000648" "g.73569731C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71809974C>G" "" "VUS" "" "0000347826" "0" "50" "10" "73405600" "73405600" "subst" "8.1361E-6" "02327" "CDH23_000597" "g.73405600A>T" "" "" "" "CDH23(NM_022124.5):c.1153A>T (p.M385L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71645843A>T" "" "VUS" "" "0000348022" "0" "10" "10" "73571765" "73571765" "subst" "0.073821" "02327" "CDH23_000654" "g.73571765T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71812008T>C" "" "benign" "" "0000348213" "0" "50" "10" "73500679" "73500679" "subst" "0.00130362" "02327" "CDH23_000506" "g.73500679C>T" "" "" "" "CDH23(NM_022124.5):c.4589C>T (p.P1530L, p.(Pro1530Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71740922C>T" "" "VUS" "" "0000348247" "0" "50" "10" "73539199" "73539199" "subst" "0.000120318" "02327" "CDH23_000630" "g.73539199C>T" "" "" "" "CDH23(NM_022124.6):c.5363C>T (p.P1788L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71779442C>T" "" "VUS" "" "0000348306" "0" "10" "10" "73558952" "73558952" "subst" "0.307582" "02327" "CDH23_000643" "g.73558952C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71799195C>T" "" "benign" "" "0000348725" "0" "50" "10" "73499464" "73499464" "subst" "0" "02327" "CDH23_000620" "g.73499464T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71739707T>A" "" "VUS" "" "0000349056" "0" "10" "10" "73434906" "73434906" "subst" "0.273871" "02327" "CDH23_000602" "g.73434906G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71675149G>A" "" "benign" "" "0000349216" "0" "30" "10" "73464764" "73464764" "subst" "0.0012298" "02327" "CDH23_000607" "g.73464764A>G" "" "" "" "CDH23(NM_001171930.1):c.2830A>G (p.(Ser944Gly)), CDH23(NM_022124.5):c.2830A>G (p.S944G), CDH23(NM_022124.6):c.2830A>G (p.S944G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71705007A>G" "" "likely benign" "" "0000349257" "0" "10" "10" "73490271" "73490271" "subst" "0.010663" "02327" "CDH23_000091" "g.73490271A>G" "" "" "" "C10orf105(NM_001168390.2):c.-6+7214T>C, CDH23(NM_022124.6):c.3625A>G (p.T1209A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71730514A>G" "" "benign" "" "0000349352" "0" "10" "10" "73550117" "73550117" "subst" "0.423751" "02327" "CDH23_000531" "g.73550117C>G" "" "" "" "CDH23(NM_022124.6):c.5996C>G (p.T1999S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71790360C>G" "" "benign" "" "0000349556" "0" "50" "10" "73437293" "73437293" "subst" "0.000581525" "02327" "CDH23_000483" "g.73437293C>T" "" "" "" "CDH23(NM_022124.5):c.1595C>T (p.T532M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71677536C>T" "" "VUS" "" "0000350227" "0" "50" "10" "73466708" "73466709" "ins" "0" "02327" "CDH23_000609" "g.73466708_73466709insCGTGTACAA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71706951_71706952insCGTGTACAA" "" "VUS" "" "0000350327" "0" "50" "10" "73501649" "73501649" "subst" "0" "02327" "CDH23_000624" "g.73501649G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71741892G>A" "" "VUS" "" "0000350339" "0" "10" "10" "73537614" "73537614" "subst" "0.179967" "02327" "CDH23_000626" "g.73537614G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71777857G>A" "" "benign" "" "0000350407" "0" "10" "10" "73558128" "73558128" "subst" "0.0552239" "02327" "CDH23_000639" "g.73558128G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71798371G>A" "" "benign" "" "0000350680" "0" "30" "10" "73461953" "73461953" "subst" "0.000387347" "02327" "CDH23_000605" "g.73461953G>A" "" "" "" "CDH23(NM_022124.5):c.2572G>A (p.V858I), CDH23(NM_022124.6):c.2572G>A (p.V858I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71702196G>A" "" "likely benign" "" "0000350768" "0" "50" "10" "73326699" "73326699" "subst" "0" "02327" "CDH23_000595" "g.73326699T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71566942T>C" "" "VUS" "" "0000351355" "0" "90" "10" "73376960" "73376960" "subst" "0" "02327" "CDH23_000596" "g.73376960A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71617203A>G" "" "pathogenic" "" "0000351356" "0" "50" "10" "73405615" "73405615" "subst" "8.94309E-5" "02327" "CDH23_000598" "g.73405615T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71645858T>C" "" "VUS" "" "0000351359" "0" "90" "10" "73550880" "73550880" "subst" "4.96915E-5" "02327" "CDH23_000532" "g.73550880G>A" "" "" "" "CDH23(NM_022124.5):c.6050-9G>A, CDH23(NM_022124.6):c.6050-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000351360" "0" "50" "10" "73574697" "73574697" "subst" "0.000425909" "02327" "CDH23_000655" "g.73574697G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71814940G>A" "" "VUS" "" "0000375708" "0" "11" "10" "73570334" "73570334" "subst" "0.168266" "02416" "CDH23_000001" "g.73570334G>A" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "rs11818398" "0" "" "" "g.71810577G>A" "" "benign" "" "0000375709" "0" "11" "10" "73570334" "73570334" "subst" "0.168266" "02416" "CDH23_000001" "g.73570334G>A" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs11818398" "0" "" "" "g.71810577G>A" "" "benign" "" "0000375710" "0" "11" "10" "73570334" "73570334" "subst" "0.168266" "02416" "CDH23_000001" "g.73570334G>A" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs11818398" "0" "" "" "g.71810577G>A" "" "benign" "" "0000375711" "1" "11" "10" "73570334" "73570334" "subst" "0.168266" "02416" "CDH23_000001" "g.73570334G>A" "" "" "" "" "heterozygous" "Germline" "" "rs11818398" "0" "" "" "g.71810577G>A" "" "benign" "" "0000375715" "10" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375716" "10" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375717" "2" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375718" "2" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375719" "20" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375720" "20" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375721" "10" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375722" "1" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375723" "20" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375724" "2" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375725" "2" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375726" "1" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375727" "10" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375728" "10" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375729" "20" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375730" "20" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375731" "0" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Kimberling 2010:20613545}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375732" "21" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous; Mutation" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375733" "21" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous; Mutation" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375734" "21" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous; Mutation" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375735" "0" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous; Mutation" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375736" "0" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375737" "0" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375738" "0" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375739" "0" "99" "10" "73539073" "73539073" "subst" "6.09305E-5" "02416" "CDH23_000002" "g.73539073G>A" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMACDH23R1746Q:} USMA-{MSV3dQ9H251p.Arg1746Gln:}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000375740" "10" "99" "10" "73499529" "73499529" "subst" "0" "02416" "CDH23_000003" "g.73499529G>C" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23Q1496H:} USMA-{MSV3dQ9H251p.Gln1496His:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic" "" "0000375741" "10" "99" "10" "73499529" "73499529" "subst" "0" "02416" "CDH23_000003" "g.73499529G>C" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23Q1496H:} USMA-{MSV3dQ9H251p.Gln1496His:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic" "" "0000375742" "10" "99" "10" "73499529" "73499529" "subst" "0" "02416" "CDH23_000003" "g.73499529G>C" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23Q1496H:} USMA-{MSV3dQ9H251p.Gln1496His:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic" "" "0000375743" "1" "99" "10" "73499529" "73499529" "subst" "0" "02416" "CDH23_000003" "g.73499529G>C" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23Q1496H:} USMA-{MSV3dQ9H251p.Gln1496His:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic" "" "0000375744" "1" "99" "10" "73499529" "73499529" "subst" "0" "02416" "CDH23_000003" "g.73499529G>C" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23Q1496H:} USMA-{MSV3dQ9H251p.Gln1496His:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic" "" "0000375745" "20" "99" "10" "73499529" "73499529" "subst" "0" "02416" "CDH23_000003" "g.73499529G>C" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23Q1496H:} USMA-{MSV3dQ9H251p.Gln1496His:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic" "" "0000375746" "20" "99" "10" "73499529" "73499529" "subst" "0" "02416" "CDH23_000003" "g.73499529G>C" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23Q1496H:} USMA-{MSV3dQ9H251p.Gln1496His:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic" "" "0000375747" "20" "99" "10" "73499529" "73499529" "subst" "0" "02416" "CDH23_000003" "g.73499529G>C" "0/400 controls" "{PMID:Bolz 2001:11138009}; USMA-{USMACDH23Q1496H:} USMA-{MSV3dQ9H251p.Gln1496His:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic" "" "0000375748" "1" "99" "10" "73499529" "73499529" "subst" "0" "02416" "CDH23_000003" "g.73499529G>C" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23Q1496H:} USMA-{MSV3dQ9H251p.Gln1496His:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic" "" "0000375749" "1" "99" "10" "73499529" "73499529" "subst" "0" "02416" "CDH23_000003" "g.73499529G>C" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23Q1496H:} USMA-{MSV3dQ9H251p.Gln1496His:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic" "" "0000375750" "1" "99" "10" "73499529" "73499529" "subst" "0" "02416" "CDH23_000003" "g.73499529G>C" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23Q1496H:} USMA-{MSV3dQ9H251p.Gln1496His:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic" "" "0000375751" "1" "99" "10" "73559391" "73559391" "subst" "8.12301E-6" "02416" "CDH23_000004" "g.73559391G>A" "0/400 controls" "{PMID:Bolz 2001:11138009}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71799634G>A" "" "pathogenic" "" "0000375752" "0" "99" "10" "73559391" "73559391" "subst" "8.12301E-6" "02416" "CDH23_000004" "g.73559391G>A" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71799634G>A" "" "pathogenic" "" "0000375753" "11" "99" "10" "73559391" "73559391" "subst" "8.12301E-6" "02416" "CDH23_000004" "g.73559391G>A" "" "{PMID:Glöcke 2013:23591405}" "" "" "heterozygous; likely pathogenic" "Germline" "" "" "0" "" "" "g.71799634G>A" "" "pathogenic" "" "0000375754" "2" "99" "10" "73491870" "73491872" "del" "0" "02416" "CDH23_000005" "g.73491870_73491872del" "0/400 controls" "{PMID:Bolz 2001:11138009}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71732113_71732115del" "" "pathogenic" "" "0000375755" "10" "99" "10" "73558214" "73558214" "del" "0" "02416" "CDH23_000006" "g.73558214del" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71798457del" "" "pathogenic" "" "0000375756" "10" "99" "10" "73558214" "73558214" "del" "0" "02416" "CDH23_000006" "g.73558214del" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71798457del" "" "pathogenic" "" "0000375757" "10" "99" "10" "73558214" "73558214" "del" "0" "02416" "CDH23_000006" "g.73558214del" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71798457del" "" "pathogenic" "" "0000375758" "20" "99" "10" "73558214" "73558214" "del" "0" "02416" "CDH23_000006" "g.73558214del" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71798457del" "" "pathogenic" "" "0000375759" "20" "99" "10" "73558214" "73558214" "del" "0" "02416" "CDH23_000006" "g.73558214del" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71798457del" "" "pathogenic" "" "0000375760" "20" "99" "10" "73558214" "73558214" "del" "0" "02416" "CDH23_000006" "g.73558214del" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71798457del" "" "pathogenic" "" "0000375761" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375762" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375763" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375764" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375765" "2" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375766" "1" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Astuto 2002:12075507}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375767" "1" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Astuto 2002:12075507}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375768" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Astuto 2002:12075507}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375769" "0" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Astuto 2002:12075507}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375770" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Astuto 2002:12075507}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375771" "2" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Astuto 2002:12075507}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375772" "2" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Astuto 2002:12075507}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375773" "1" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Astuto 2002:12075507}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375774" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Astuto 2002:12075507}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375775" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Astuto 2002:12075507}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375776" "0" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Pennings 2004:15353998}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375777" "0" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Pennings 2004:15353998}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375778" "1" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Roux 2006:16679490}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375779" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375780" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375781" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375782" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375783" "1" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375784" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375785" "0" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375786" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375787" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375788" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375789" "1" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02417" "CDH23_000007" "g.73550880G>A" "" "{PMID:Jaijo 2010:19683999}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375790" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02417" "CDH23_000007" "g.73550880G>A" "" "{PMID:Jaijo 2010:19683999}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375791" "2" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02417" "CDH23_000007" "g.73550880G>A" "" "{PMID:Jaijo 2010:19683999}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375792" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02417" "CDH23_000007" "g.73550880G>A" "" "{PMID:Jaijo 2010:19683999}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375793" "2" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02417" "CDH23_000007" "g.73550880G>A" "" "{PMID:Jaijo 2010:19683999}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375794" "2" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Vaché 2010:20513143}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375795" "0" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Kimberling 2010:20613545}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "6065-9G>A" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375796" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/100 controls" "{PMID:Roux 2011:21436283}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375797" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "0/100 controls" "{PMID:Roux 2011:21436283}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375798" "2" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Bonnet 2011:21569298}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous; Pathogenic" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375799" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375800" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375801" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375802" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375803" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375804" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375805" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375806" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375807" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375808" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375809" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375810" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375811" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375812" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375813" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375814" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375815" "10" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375816" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375817" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375818" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375819" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375820" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375821" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375822" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375823" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375824" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375825" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375826" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375827" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375828" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375829" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375830" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375831" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375832" "20" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "homozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375833" "11" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375834" "11" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Schultz 2011:21940737}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous; Mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375835" "0" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375836" "0" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02416" "CDH23_000007" "g.73550880G>A" "" "{PMID:Bujakowska 2014:25468891}" "+PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI;" "" "heterozygous" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375837" "2" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02428" "CDH23_000007" "g.73550880G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375838" "1" "99" "10" "73550880" "73550880" "subst" "4.96915E-5" "02428" "CDH23_000007" "g.73550880G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "rs367928692" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000375841" "1" "99" "10" "73544857" "73544857" "subst" "8.15089E-6" "02416" "CDH23_000008" "g.73544857G>A" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "-BsaJI;-BtgI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71785100G>A" "" "pathogenic" "" "0000375842" "10" "99" "10" "73544857" "73544857" "subst" "8.15089E-6" "02416" "CDH23_000008" "g.73544857G>A" "" "{PMID:Vozzi 2011:21738395}" "-BsaJI;-BtgI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71785100G>A" "" "pathogenic" "" "0000375843" "20" "99" "10" "73544857" "73544857" "subst" "8.15089E-6" "02416" "CDH23_000008" "g.73544857G>A" "" "{PMID:Vozzi 2011:21738395}" "-BsaJI;-BtgI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71785100G>A" "" "pathogenic" "" "0000375844" "0" "75" "10" "73270758" "73270758" "subst" "0" "02416" "CDH23_000009" "g.73270758G>C" "0/100 controls" "{PMID:von Brederlow 2002:11857743}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511001G>C" "" "VUS" "ACMG" "0000375845" "0" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "" "{PMID:Roux 2006:16679490}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375846" "0" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "" "{PMID:Roux 2006:16679490}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375847" "10" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375848" "1" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375849" "20" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375850" "10" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375851" "20" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375852" "0" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "" "{PMID:Roux 2011:21436283}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375853" "0" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "" "{PMID:Roux 2011:21436283}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375854" "10" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "" "{PMID:Roux 2011:21436283}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375855" "20" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "" "{PMID:Roux 2011:21436283}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375856" "0" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "" "{PMID:Roux 2011:21436283}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "heterozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375857" "10" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "" "{PMID:Roux 2011:21436283}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375858" "20" "11" "10" "73558030" "73558030" "subst" "0" "02416" "CDH23_000010" "g.73558030G>A" "" "{PMID:Roux 2011:21436283}" "+BseYI;+AluI;-BssKI;-StyD4I;-MspI;-HpaII;" "" "homozygous" "Germline" "" "rs7068357" "0" "" "" "g.71798273G>A" "" "benign" "" "0000375862" "1" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "" "{PMID:Roux 2006:16679490}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "heterozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375863" "0" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "" "{PMID:Roux 2006:16679490}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "heterozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375864" "10" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "homozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375865" "20" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "homozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375866" "10" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "homozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375867" "20" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "homozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375868" "1" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "heterozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375869" "0" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "" "{PMID:Roux 2011:21436283}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "heterozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375870" "0" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "" "{PMID:Roux 2011:21436283}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "heterozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375871" "10" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "" "{PMID:Roux 2011:21436283}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "homozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375872" "20" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "" "{PMID:Roux 2011:21436283}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "homozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375873" "0" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "" "{PMID:Roux 2011:21436283}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "heterozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375874" "10" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "" "{PMID:Roux 2011:21436283}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "homozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375875" "20" "11" "10" "73562744" "73562744" "subst" "0.310132" "02416" "CDH23_000011" "g.73562744G>A" "" "{PMID:Roux 2011:21436283}" "+BcgI;-BaeGI;-FauI;-AciI;-Bsp1286I;" "" "homozygous" "Germline" "" "rs10823849" "0" "" "" "g.71802987G>A" "" "benign" "" "0000375882" "1" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "heterozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375883" "0" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "heterozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375884" "10" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "0/200 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "homozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375885" "20" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "0/200 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "homozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375886" "10" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "0/200 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "homozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375887" "20" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "0/200 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "homozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375888" "1" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "0/200 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "heterozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375889" "0" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "heterozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375890" "10" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "homozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375891" "20" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "homozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375892" "0" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "heterozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375893" "10" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "homozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375894" "20" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "" "homozygous" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375895" "10" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "chr10:g.73558952C>T-c.419C>T-p.P140L in ENST00000224721" "homozygous; non causative" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375896" "0" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "chr10:g.73558952C>T-c.419C>T-p.P140L in ENST00000224721" "homozygous; non causative" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375897" "0" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "chr10:g.73558952C>T-c.419C>T-p.P140L in ENST00000224721" "heterozygous; non causative" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375898" "20" "11" "10" "73558952" "73558952" "subst" "0.307582" "02416" "CDH23_000012" "g.73558952C>T" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23P2380L:} USMA-{MSV3dQ9H251p.Pro2380Leu:}" "-FauI;-AciI;" "chr10:g.73558952C>T-c.419C>T-p.P140L in ENST00000224721" "homozygous; non causative" "Germline" "" "rs4747195" "0" "" "" "g.71799195C>T" "" "benign" "" "0000375902" "1" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "heterozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375903" "0" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "heterozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375904" "10" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "homozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375905" "20" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "homozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375906" "10" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "homozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375907" "20" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "homozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375908" "1" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "heterozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375909" "0" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "heterozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375910" "10" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "homozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375911" "20" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "homozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375912" "0" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "heterozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375913" "10" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "homozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375914" "20" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "homozygous" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375915" "0" "11" "10" "73558886" "73558886" "subst" "0.314372" "02419" "CDH23_000013" "g.73558886G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "" "heterozygous; Neutral" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375916" "0" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "chr10:g.73558886G>A-c.353G>A-p.R118Q in ENST00000224721" "heterozygous; non causative" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375917" "0" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "chr10:g.73558886G>A-c.353G>A-p.R118Q in ENST00000224721" "heterozygous; non causative" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375918" "10" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "chr10:g.73558886G>A-c.353G>A-p.R118Q in ENST00000224721" "homozygous; non causative" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375919" "20" "11" "10" "73558886" "73558886" "subst" "0.314372" "02416" "CDH23_000013" "g.73558886G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23R2358Q:} USMA-{MSV3dQ9H251p.Arg2358Gln:}" "+PflMI;-MspI;-HpaII;-BsaWI;" "chr10:g.73558886G>A-c.353G>A-p.R118Q in ENST00000224721" "homozygous; non causative" "Germline" "" "rs4747194" "0" "" "" "g.71799129G>A" "" "benign" "" "0000375920" "1" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "" "{PMID:Roux 2006:16679490}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "heterozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375921" "0" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "" "{PMID:Roux 2006:16679490}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "heterozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375922" "10" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "homozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375923" "10" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "homozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375924" "20" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "homozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375925" "20" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "homozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375926" "1" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "heterozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375927" "0" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "" "{PMID:Roux 2011:21436283}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "heterozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375928" "10" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "" "{PMID:Roux 2011:21436283}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "homozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375929" "20" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "" "{PMID:Roux 2011:21436283}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "homozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375930" "0" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "" "{PMID:Roux 2011:21436283}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "heterozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375931" "0" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "" "{PMID:Roux 2011:21436283}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "heterozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375932" "10" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "" "{PMID:Roux 2011:21436283}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "homozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375933" "20" "11" "10" "73558852" "73558852" "subst" "0.340402" "02416" "CDH23_000014" "g.73558852A>G" "" "{PMID:Roux 2011:21436283}" "+PhoI;+Sau96I;+HaeIII;+EcoO109I;-BsaXI;" "" "homozygous" "Germline" "" "rs4747193" "0" "" "" "g.71799095A>G" "" "benign" "" "0000375937" "2" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2006:16679490}" "+MnlI" "" "heterozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375938" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2006:16679490}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375939" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2006:16679490}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375940" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2006:16679490}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375941" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2006:16679490}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375942" "0" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2006:16679490}" "+MnlI" "" "heterozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375943" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2006:16679490}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375944" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2006:16679490}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375945" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375946" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375947" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375948" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375949" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375950" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375953" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Ammar-Khodja 2009:19375528}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375954" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Ammar-Khodja 2009:19375528}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375955" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375956" "0" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "heterozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375957" "2" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "heterozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375958" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375959" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375960" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375961" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375962" "0" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "heterozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375963" "0" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "heterozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375964" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375965" "0" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "heterozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375966" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375967" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Roux 2011:21436283}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375968" "0" "11" "10" "73439066" "73439066" "subst" "0" "02417" "CDH23_000015" "g.73439066A>T" "" "{PMID:Aparis 2013:23451239}" "+MnlI" "" "heterozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375969" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375970" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375971" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375972" "10" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375973" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375974" "20" "11" "10" "73439066" "73439066" "subst" "0" "02416" "CDH23_000015" "g.73439066A>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI" "" "homozygous" "Germline" "" "rs3802717" "0" "" "" "g.71679309A>T" "" "benign" "" "0000375979" "2" "99" "10" "73453933" "73453933" "subst" "8.12625E-6" "02416" "CDH23_000016" "g.73453933C>T" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694176C>T" "" "pathogenic" "" "0000375980" "21" "99" "10" "73453933" "73453933" "subst" "8.12625E-6" "02416" "CDH23_000016" "g.73453933C>T" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694176C>T" "" "pathogenic" "" "0000375981" "11" "99" "10" "73453933" "73453933" "subst" "8.12625E-6" "02416" "CDH23_000016" "g.73453933C>T" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694176C>T" "" "pathogenic" "" "0000375985" "1" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "heterozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000375986" "1" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "heterozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000375987" "10" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000375988" "20" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000375989" "2" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "0/200 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "heterozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000375992" "10" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000375993" "20" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000375994" "2" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "heterozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000375995" "10" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000375996" "20" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000375997" "10" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000375998" "20" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000375999" "0" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "heterozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000376000" "10" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000376001" "20" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000376002" "10" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000376003" "20" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000376004" "10" "11" "10" "73550117" "73550117" "subst" "0.423751" "02419" "CDH23_000017" "g.73550117C>G" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous; Neutral" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000376005" "20" "11" "10" "73550117" "73550117" "subst" "0.423751" "02419" "CDH23_000017" "g.73550117C>G" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "homozygous; Neutral" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000376006" "0" "11" "10" "73550117" "73550117" "subst" "0.423751" "02417" "CDH23_000017" "g.73550117C>G" "" "{PMID:Aparis 2013:23451239}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "heterozygous" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000376007" "0" "11" "10" "73550117" "73550117" "subst" "0.423751" "02416" "CDH23_000017" "g.73550117C>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23T1999S:} USMA-{MSV3dQ9H251p.Thr1999Ser:}" "+CviKI_1;+AluI;-Tsp45I;-BstEII;" "" "heterozygous; non causative" "Germline" "" "rs11592462" "0" "" "" "g.71790360C>G" "" "benign" "" "0000376008" "2" "99" "10" "73553305" "73553305" "del" "4.07146E-6" "02416" "CDH23_000018" "g.73553305del" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71793548del" "" "pathogenic" "" "0000376009" "10" "11" "10" "73537388" "73537388" "subst" "0.441391" "02416" "CDH23_000019" "g.73537388T>C" "" "{PMID:Roux 2011:21436283}" "+MnlI;-StyI;" "" "homozygous" "Germline" "" "rs7917781" "0" "" "" "g.71777631T>C" "" "benign" "" "0000376010" "20" "11" "10" "73537388" "73537388" "subst" "0.441391" "02416" "CDH23_000019" "g.73537388T>C" "" "{PMID:Roux 2011:21436283}" "+MnlI;-StyI;" "" "homozygous" "Germline" "" "rs7917781" "0" "" "" "g.71777631T>C" "" "benign" "" "0000376011" "0" "11" "10" "73537388" "73537388" "subst" "0.441391" "02416" "CDH23_000019" "g.73537388T>C" "" "{PMID:Roux 2011:21436283}" "+MnlI;-StyI;" "" "heterozygous" "Germline" "" "rs7917781" "0" "" "" "g.71777631T>C" "" "benign" "" "0000376012" "10" "11" "10" "73537388" "73537388" "subst" "0.441391" "02416" "CDH23_000019" "g.73537388T>C" "" "{PMID:Roux 2011:21436283}" "+MnlI;-StyI;" "" "homozygous" "Germline" "" "rs7917781" "0" "" "" "g.71777631T>C" "" "benign" "" "0000376013" "20" "11" "10" "73537388" "73537388" "subst" "0.441391" "02416" "CDH23_000019" "g.73537388T>C" "" "{PMID:Roux 2011:21436283}" "+MnlI;-StyI;" "" "homozygous" "Germline" "" "rs7917781" "0" "" "" "g.71777631T>C" "" "benign" "" "0000376014" "0" "11" "10" "73537388" "73537388" "subst" "0.441391" "02416" "CDH23_000019" "g.73537388T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI;-StyI;" "" "heterozygous" "Germline" "" "rs7917781" "0" "" "" "g.71777631T>C" "" "benign" "" "0000376015" "0" "11" "10" "73537388" "73537388" "subst" "0.441391" "02416" "CDH23_000019" "g.73537388T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI;-StyI;" "" "heterozygous" "Germline" "" "rs7917781" "0" "" "" "g.71777631T>C" "" "benign" "" "0000376016" "0" "11" "10" "73537388" "73537388" "subst" "0.441391" "02416" "CDH23_000019" "g.73537388T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI;-StyI;" "" "heterozygous" "Germline" "" "rs7917781" "0" "" "" "g.71777631T>C" "" "benign" "" "0000376017" "0" "11" "10" "73537388" "73537388" "subst" "0.441391" "02416" "CDH23_000019" "g.73537388T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI;-StyI;" "" "heterozygous" "Germline" "" "rs7917781" "0" "" "" "g.71777631T>C" "" "benign" "" "0000376018" "0" "11" "10" "73537388" "73537388" "subst" "0.441391" "02417" "CDH23_000019" "g.73537388T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI;-StyI;" "" "heterozygous" "Germline" "" "rs7917781" "0" "" "" "g.71777631T>C" "" "benign" "" "0000376022" "0" "11" "10" "73270629" "73270629" "subst" "0" "02416" "CDH23_000020" "g.73270629C>T" "" "{PMID:Roux 2006:16679490}" "+AluI;+SacI;+Eco53kI;-NlaIV;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71510872C>T" "" "benign" "" "0000376023" "10" "11" "10" "73270629" "73270629" "subst" "0" "02416" "CDH23_000020" "g.73270629C>T" "" "{PMID:Ammar-Khodja 2009:19375528}" "+AluI;+SacI;+Eco53kI;-NlaIV;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71510872C>T" "" "benign" "" "0000376024" "20" "11" "10" "73270629" "73270629" "subst" "0" "02416" "CDH23_000020" "g.73270629C>T" "" "{PMID:Ammar-Khodja 2009:19375528}" "+AluI;+SacI;+Eco53kI;-NlaIV;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71510872C>T" "" "benign" "" "0000376025" "0" "11" "10" "73270629" "73270629" "subst" "0" "02416" "CDH23_000020" "g.73270629C>T" "" "{PMID:Roux 2011:21436283}" "+AluI;+SacI;+Eco53kI;-NlaIV;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71510872C>T" "" "benign" "" "0000376026" "2" "11" "10" "73571521" "73571521" "subst" "0.111101" "02416" "CDH23_000021" "g.73571521G>A" "" "{PMID:Roux 2006:16679490}" "+AvaII;-PhoI;-HaeIII;-CviKI_1;" "" "heterozygous" "Germline" "" "rs11000013" "0" "" "" "g.71811764G>A" "" "benign" "" "0000376027" "10" "11" "10" "73571521" "73571521" "subst" "0.111101" "02416" "CDH23_000021" "g.73571521G>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "+AvaII;-PhoI;-HaeIII;-CviKI_1;" "" "homozygous" "Germline" "" "rs11000013" "0" "" "" "g.71811764G>A" "" "benign" "" "0000376028" "20" "11" "10" "73571521" "73571521" "subst" "0.111101" "02416" "CDH23_000021" "g.73571521G>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "+AvaII;-PhoI;-HaeIII;-CviKI_1;" "" "homozygous" "Germline" "" "rs11000013" "0" "" "" "g.71811764G>A" "" "benign" "" "0000376029" "0" "11" "10" "73571521" "73571521" "subst" "0.111101" "02416" "CDH23_000021" "g.73571521G>A" "" "{PMID:Roux 2011:21436283}" "+AvaII;-PhoI;-HaeIII;-CviKI_1;" "" "heterozygous" "Germline" "" "rs11000013" "0" "" "" "g.71811764G>A" "" "benign" "" "0000376030" "0" "11" "10" "73571521" "73571521" "subst" "0.111101" "02419" "CDH23_000021" "g.73571521G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+AvaII;-PhoI;-HaeIII;-CviKI_1;" "" "heterozygous; UV1" "Germline" "" "rs11000013" "0" "" "" "g.71811764G>A" "" "benign" "" "0000376031" "2" "11" "10" "73570215" "73570215" "subst" "0.0068482" "02416" "CDH23_000022" "g.73570215C>A" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "rs45522532" "0" "" "" "g.71810458C>A" "" "benign" "" "0000376032" "10" "11" "10" "73570215" "73570215" "subst" "0.0068482" "02416" "CDH23_000022" "g.73570215C>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "" "" "homozygous" "Germline" "" "rs45522532" "0" "" "" "g.71810458C>A" "" "benign" "" "0000376033" "20" "11" "10" "73570215" "73570215" "subst" "0.0068482" "02416" "CDH23_000022" "g.73570215C>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "" "" "homozygous" "Germline" "" "rs45522532" "0" "" "" "g.71810458C>A" "" "benign" "" "0000376034" "2" "11" "10" "73569749" "73569749" "subst" "0.110706" "02416" "CDH23_000023" "g.73569749C>T" "" "{PMID:Roux 2006:16679490}" "-BsiEI" "" "heterozygous" "Germline" "" "rs11000009" "0" "" "" "g.71809992C>T" "" "benign" "" "0000376035" "10" "11" "10" "73569749" "73569749" "subst" "0.110706" "02416" "CDH23_000023" "g.73569749C>T" "" "{PMID:Ammar-Khodja 2009:19375528}" "-BsiEI" "" "homozygous" "Germline" "" "rs11000009" "0" "" "" "g.71809992C>T" "" "benign" "" "0000376036" "20" "11" "10" "73569749" "73569749" "subst" "0.110706" "02416" "CDH23_000023" "g.73569749C>T" "" "{PMID:Ammar-Khodja 2009:19375528}" "-BsiEI" "" "homozygous" "Germline" "" "rs11000009" "0" "" "" "g.71809992C>T" "" "benign" "" "0000376037" "0" "11" "10" "73569749" "73569749" "subst" "0.110706" "02416" "CDH23_000023" "g.73569749C>T" "" "{PMID:Roux 2011:21436283}" "-BsiEI" "" "heterozygous" "Germline" "" "rs11000009" "0" "" "" "g.71809992C>T" "" "benign" "" "0000376038" "0" "11" "10" "73569749" "73569749" "subst" "0.110706" "02416" "CDH23_000023" "g.73569749C>T" "" "{PMID:Roux 2011:21436283}" "-BsiEI" "" "heterozygous" "Germline" "" "rs11000009" "0" "" "" "g.71809992C>T" "" "benign" "" "0000376039" "0" "11" "10" "73569749" "73569749" "subst" "0.110706" "02419" "CDH23_000023" "g.73569749C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-BsiEI" "" "heterozygous; Neutral" "Germline" "" "rs11000009" "0" "" "" "g.71809992C>T" "" "benign" "" "0000376043" "1" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "heterozygous" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376044" "0" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "heterozygous" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376045" "0" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "heterozygous" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376046" "0" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "heterozygous" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376047" "10" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "homozygous" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376048" "20" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "homozygous" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376049" "0" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "heterozygous" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376050" "10" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "homozygous" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376051" "20" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "homozygous" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376052" "0" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "heterozygous; non causative" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376053" "0" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "heterozygous; non causative" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376054" "10" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "homozygous; non causative" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376055" "20" "11" "10" "73550969" "73550969" "subst" "0.308827" "02416" "CDH23_000024" "g.73550969G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "homozygous; non causative" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000376056" "1" "11" "10" "73544086" "73544086" "subst" "0.154801" "02416" "CDH23_000025" "g.73544086G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23R1804Q:} USMA-{MSV3dQ9H251p.Arg1804Gln:}" "" "" "heterozygous" "Germline" "" "rs3802711" "0" "" "" "g.71784329G>A" "" "benign" "" "0000376057" "0" "11" "10" "73544086" "73544086" "subst" "0.154801" "02416" "CDH23_000025" "g.73544086G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23R1804Q:} USMA-{MSV3dQ9H251p.Arg1804Gln:}" "" "" "heterozygous" "Germline" "" "rs3802711" "0" "" "" "g.71784329G>A" "" "benign" "" "0000376058" "0" "11" "10" "73544086" "73544086" "subst" "0.154801" "02416" "CDH23_000025" "g.73544086G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23R1804Q:} USMA-{MSV3dQ9H251p.Arg1804Gln:}" "" "" "heterozygous" "Germline" "" "rs3802711" "0" "" "" "g.71784329G>A" "" "benign" "" "0000376059" "0" "11" "10" "73544086" "73544086" "subst" "0.154801" "02416" "CDH23_000025" "g.73544086G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23R1804Q:} USMA-{MSV3dQ9H251p.Arg1804Gln:}" "" "" "heterozygous" "Germline" "" "rs3802711" "0" "" "" "g.71784329G>A" "" "benign" "" "0000376060" "0" "11" "10" "73544086" "73544086" "subst" "0.154801" "02419" "CDH23_000025" "g.73544086G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R1804Q:} USMA-{MSV3dQ9H251p.Arg1804Gln:}" "-MspI;-HpaII;-BsaWI;-BspEI;" "" "heterozygous; Neutral" "Germline" "" "rs3802711" "0" "" "" "g.71784329G>A" "" "benign" "" "0000376061" "0" "11" "10" "73538164" "73538164" "subst" "0" "02416" "CDH23_000026" "g.73538164T>C" "" "{PMID:Roux 2006:16679490}" "+BcgI;+BsaJI;-BspCNI;-DdeI;" "" "heterozygous" "Germline" "" "rs10762481" "0" "" "" "g.71778407T>C" "" "benign" "" "0000376062" "0" "11" "10" "73538164" "73538164" "subst" "0" "02416" "CDH23_000026" "g.73538164T>C" "" "{PMID:Roux 2011:21436283}" "+BcgI;+BsaJI;-BspCNI;-DdeI;" "" "heterozygous" "Germline" "" "rs10762481" "0" "" "" "g.71778407T>C" "" "benign" "" "0000376063" "10" "11" "10" "73538164" "73538164" "subst" "0" "02416" "CDH23_000026" "g.73538164T>C" "" "{PMID:Roux 2011:21436283}" "+BcgI;+BsaJI;-BspCNI;-DdeI;" "" "homozygous" "Germline" "" "rs10762481" "0" "" "" "g.71778407T>C" "" "benign" "" "0000376064" "20" "11" "10" "73538164" "73538164" "subst" "0" "02416" "CDH23_000026" "g.73538164T>C" "" "{PMID:Roux 2011:21436283}" "+BcgI;+BsaJI;-BspCNI;-DdeI;" "" "homozygous" "Germline" "" "rs10762481" "0" "" "" "g.71778407T>C" "" "benign" "" "0000376065" "0" "11" "10" "73538164" "73538164" "subst" "0" "02416" "CDH23_000026" "g.73538164T>C" "" "{PMID:Roux 2011:21436283}" "+BcgI;+BsaJI;-BspCNI;-DdeI;" "" "heterozygous" "Germline" "" "rs10762481" "0" "" "" "g.71778407T>C" "" "benign" "" "0000376066" "0" "11" "10" "73538164" "73538164" "subst" "0" "02416" "CDH23_000026" "g.73538164T>C" "" "{PMID:Roux 2011:21436283}" "+BcgI;+BsaJI;-BspCNI;-DdeI;" "" "heterozygous" "Germline" "" "rs10762481" "0" "" "" "g.71778407T>C" "" "benign" "" "0000376067" "10" "11" "10" "73538164" "73538164" "subst" "0" "02416" "CDH23_000026" "g.73538164T>C" "" "{PMID:Roux 2011:21436283}" "+BcgI;+BsaJI;-BspCNI;-DdeI;" "" "homozygous" "Germline" "" "rs10762481" "0" "" "" "g.71778407T>C" "" "benign" "" "0000376068" "20" "11" "10" "73538164" "73538164" "subst" "0" "02416" "CDH23_000026" "g.73538164T>C" "" "{PMID:Roux 2011:21436283}" "+BcgI;+BsaJI;-BspCNI;-DdeI;" "" "homozygous" "Germline" "" "rs10762481" "0" "" "" "g.71778407T>C" "" "benign" "" "0000376073" "0" "11" "10" "73537978" "73537978" "subst" "0.186637" "02416" "CDH23_000027" "g.73537978C>T" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs10762480" "0" "" "" "g.71778221C>T" "" "benign" "" "0000376074" "0" "11" "10" "73537978" "73537978" "subst" "0.186637" "02416" "CDH23_000027" "g.73537978C>T" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs10762480" "0" "" "" "g.71778221C>T" "" "benign" "" "0000376075" "0" "11" "10" "73537978" "73537978" "subst" "0.186637" "02416" "CDH23_000027" "g.73537978C>T" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs10762480" "0" "" "" "g.71778221C>T" "" "benign" "" "0000376076" "0" "11" "10" "73537978" "73537978" "subst" "0.186637" "02416" "CDH23_000027" "g.73537978C>T" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs10762480" "0" "" "" "g.71778221C>T" "" "benign" "" "0000376077" "0" "11" "10" "73537978" "73537978" "subst" "0.186637" "02416" "CDH23_000027" "g.73537978C>T" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs10762480" "0" "" "" "g.71778221C>T" "" "benign" "" "0000376081" "0" "11" "10" "73538109" "73538109" "subst" "0.405638" "02416" "CDH23_000028" "g.73538109C>G" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs10740390" "0" "" "" "g.71778352C>G" "" "benign" "" "0000376082" "0" "11" "10" "73538109" "73538109" "subst" "0.405638" "02416" "CDH23_000028" "g.73538109C>G" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs10740390" "0" "" "" "g.71778352C>G" "" "benign" "" "0000376083" "10" "11" "10" "73538109" "73538109" "subst" "0.405638" "02416" "CDH23_000028" "g.73538109C>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740390" "0" "" "" "g.71778352C>G" "" "benign" "" "0000376084" "20" "11" "10" "73538109" "73538109" "subst" "0.405638" "02416" "CDH23_000028" "g.73538109C>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740390" "0" "" "" "g.71778352C>G" "" "benign" "" "0000376085" "10" "11" "10" "73538109" "73538109" "subst" "0.405638" "02416" "CDH23_000028" "g.73538109C>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740390" "0" "" "" "g.71778352C>G" "" "benign" "" "0000376086" "20" "11" "10" "73538109" "73538109" "subst" "0.405638" "02416" "CDH23_000028" "g.73538109C>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740390" "0" "" "" "g.71778352C>G" "" "benign" "" "0000376087" "0" "11" "10" "73538109" "73538109" "subst" "0.405638" "02416" "CDH23_000028" "g.73538109C>G" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs10740390" "0" "" "" "g.71778352C>G" "" "benign" "" "0000376088" "0" "11" "10" "73538109" "73538109" "subst" "0.405638" "02416" "CDH23_000028" "g.73538109C>G" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs10740390" "0" "" "" "g.71778352C>G" "" "benign" "" "0000376089" "0" "11" "10" "73538109" "73538109" "subst" "0.405638" "02416" "CDH23_000028" "g.73538109C>G" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs10740390" "0" "" "" "g.71778352C>G" "" "benign" "" "0000376090" "10" "11" "10" "73538109" "73538109" "subst" "0.405638" "02416" "CDH23_000028" "g.73538109C>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740390" "0" "" "" "g.71778352C>G" "" "benign" "" "0000376091" "20" "11" "10" "73538109" "73538109" "subst" "0.405638" "02416" "CDH23_000028" "g.73538109C>G" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs10740390" "0" "" "" "g.71778352C>G" "" "benign" "" "0000376098" "2" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02416" "CDH23_000029" "g.73498355G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "heterozygous" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376099" "10" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02416" "CDH23_000029" "g.73498355G>A" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "homozygous" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376100" "20" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02416" "CDH23_000029" "g.73498355G>A" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "homozygous" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376101" "0" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02419" "CDH23_000029" "g.73498355G>A" "36/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376102" "0" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02419" "CDH23_000029" "g.73498355G>A" "36/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376103" "0" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02419" "CDH23_000029" "g.73498355G>A" "36/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376104" "0" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02419" "CDH23_000029" "g.73498355G>A" "36/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376105" "0" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02419" "CDH23_000029" "g.73498355G>A" "36/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376106" "0" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02419" "CDH23_000029" "g.73498355G>A" "36/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376107" "0" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02419" "CDH23_000029" "g.73498355G>A" "36/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376108" "0" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02419" "CDH23_000029" "g.73498355G>A" "36/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376109" "0" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02419" "CDH23_000029" "g.73498355G>A" "36/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376110" "0" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02419" "CDH23_000029" "g.73498355G>A" "36/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376111" "0" "11" "10" "73498355" "73498355" "subst" "0.0356353" "02416" "CDH23_000029" "g.73498355G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23R1437Q:} USMA-{MSV3dQ9H251p.Arg1437Gln:}" "none" "" "heterozygous; non causative" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000376112" "0" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376113" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376114" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376115" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376116" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376117" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376118" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376119" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376120" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376121" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376122" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376123" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376124" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376125" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376126" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376127" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376128" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376129" "0" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376130" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376131" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376132" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376133" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376134" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376135" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376136" "0" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376137" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376138" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376139" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376140" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376141" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376142" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376143" "10" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376144" "20" "11" "10" "73494159" "73494159" "subst" "0" "02416" "CDH23_000030" "g.73494159T>A" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376145" "0" "11" "10" "73494159" "73494159" "subst" "0" "02417" "CDH23_000030" "g.73494159T>A" "" "{PMID:Aparis 2013:23451239}" "none" "" "heterozygous" "Germline" "" "rs1227062" "0" "" "" "g.71734402T>A" "" "benign" "" "0000376162" "0" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "heterozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376163" "10" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376164" "20" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376165" "10" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376166" "20" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376167" "10" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376168" "20" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376169" "0" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "heterozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376170" "10" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376171" "20" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376172" "10" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376173" "20" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376174" "0" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "heterozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376175" "10" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376176" "20" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376177" "10" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376178" "20" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376179" "10" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376180" "20" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376181" "10" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376182" "20" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376183" "10" "11" "10" "73492079" "73492079" "subst" "0.805895" "02419" "CDH23_000031" "g.73492079A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp :}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous; Neutral" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376184" "20" "11" "10" "73492079" "73492079" "subst" "0.805895" "02419" "CDH23_000031" "g.73492079A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp :}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous; Neutral" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376185" "0" "11" "10" "73492079" "73492079" "subst" "0.805895" "02417" "CDH23_000031" "g.73492079A>G" "" "{PMID:Aparis 2013:23451239}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "heterozygous" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376186" "10" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous; non causative" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376187" "20" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous; non causative" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376188" "0" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "heterozygous; non causative" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376189" "10" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous; non causative" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376190" "20" "11" "10" "73492079" "73492079" "subst" "0.805895" "02416" "CDH23_000031" "g.73492079A>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23N1351D:} USMA-{MSV3dQ9H251p.Asn1351Asp:}" "+TaqI;+Hpy99I;+HgaI;+bsaHI;" "" "homozygous; non causative" "Germline" "" "rs1227065" "0" "" "" "g.71732322A>G" "" "benign" "" "0000376191" "0" "11" "10" "73483756" "73483756" "subst" "0.114732" "02416" "CDH23_000032" "g.73483756T>C" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "rs3802712" "0" "" "" "g.71723999T>C" "" "benign" "" "0000376192" "10" "11" "10" "73483756" "73483756" "subst" "0.114732" "02416" "CDH23_000032" "g.73483756T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "" "" "homozygous" "Germline" "" "rs3802712" "0" "" "" "g.71723999T>C" "" "benign" "" "0000376193" "20" "11" "10" "73483756" "73483756" "subst" "0.114732" "02416" "CDH23_000032" "g.73483756T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "" "" "homozygous" "Germline" "" "rs3802712" "0" "" "" "g.71723999T>C" "" "benign" "" "0000376194" "0" "11" "10" "73483756" "73483756" "subst" "0.114732" "02416" "CDH23_000032" "g.73483756T>C" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs3802712" "0" "" "" "g.71723999T>C" "" "benign" "" "0000376195" "10" "11" "10" "73483756" "73483756" "subst" "0.114732" "02416" "CDH23_000032" "g.73483756T>C" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs3802712" "0" "" "" "g.71723999T>C" "" "benign" "" "0000376196" "20" "11" "10" "73483756" "73483756" "subst" "0.114732" "02416" "CDH23_000032" "g.73483756T>C" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs3802712" "0" "" "" "g.71723999T>C" "" "benign" "" "0000376200" "0" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02416" "CDH23_000033" "g.73483773G>A" "" "{PMID:Roux 2006:16679490}" "-Hpy188III;" "" "heterozygous" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000376201" "2" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02416" "CDH23_000033" "g.73483773G>A" "" "{PMID:Roux 2006:16679490}" "-Hpy188III;" "" "heterozygous" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000376202" "0" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02416" "CDH23_000033" "g.73483773G>A" "" "{PMID:Roux 2011:21436283}" "-Hpy188III;" "" "heterozygous" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000376203" "0" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02416" "CDH23_000033" "g.73483773G>A" "" "{PMID:Roux 2011:21436283}" "-Hpy188III;" "" "heterozygous" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000376204" "0" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02417" "CDH23_000033" "g.73483773G>A" "" "{PMID:Aparis 2013:23451239}" "-Hpy188III;" "" "heterozygous" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000376205" "2" "35" "10" "73472494" "73472494" "subst" "0.00224305" "02416" "CDH23_000034" "g.73472494A>G" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23N1098S:} USMA-{MSV3dQ9H251p.Asn1098Ser:}" "" "" "heterozygous" "Germline" "" "rs41281310" "0" "" "" "g.71712737A>G" "" "likely benign" "ACMG" "0000376206" "2" "35" "10" "73472494" "73472494" "subst" "0.00224305" "02416" "CDH23_000034" "g.73472494A>G" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23N1098S:} USMA-{MSV3dQ9H251p.Asn1098Ser:}" "" "" "heterozygous" "Germline" "" "rs41281310" "0" "" "" "g.71712737A>G" "" "likely benign" "ACMG" "0000376207" "2" "11" "10" "73466709" "73466709" "subst" "0.102686" "02416" "CDH23_000035" "g.73466709T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs10823829" "0" "" "" "g.71706952T>C" "" "benign" "" "0000376208" "10" "11" "10" "73466709" "73466709" "subst" "0.102686" "02416" "CDH23_000035" "g.73466709T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "none" "" "homozygous" "Germline" "" "rs10823829" "0" "" "" "g.71706952T>C" "" "benign" "" "0000376209" "20" "11" "10" "73466709" "73466709" "subst" "0.102686" "02416" "CDH23_000035" "g.73466709T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "none" "" "homozygous" "Germline" "" "rs10823829" "0" "" "" "g.71706952T>C" "" "benign" "" "0000376210" "0" "11" "10" "73466709" "73466709" "subst" "0.102686" "02416" "CDH23_000035" "g.73466709T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs10823829" "0" "" "" "g.71706952T>C" "" "benign" "" "0000376211" "10" "11" "10" "73466709" "73466709" "subst" "0.102686" "02419" "CDH23_000035" "g.73466709T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Neutral" "Germline" "" "rs10823829" "0" "" "" "g.71706952T>C" "" "benign" "" "0000376212" "20" "11" "10" "73466709" "73466709" "subst" "0.102686" "02419" "CDH23_000035" "g.73466709T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Neutral" "Germline" "" "rs10823829" "0" "" "" "g.71706952T>C" "" "benign" "" "0000376216" "0" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+BslI;" "" "heterozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376217" "10" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376218" "20" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376219" "10" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376220" "20" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2006:16679490}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376221" "10" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376222" "20" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376223" "10" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376224" "20" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376225" "10" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376226" "20" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376227" "10" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376228" "20" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376229" "10" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376230" "20" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376231" "0" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+BslI;" "" "heterozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376232" "10" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376233" "20" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376234" "10" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376235" "20" "11" "10" "73455308" "73455308" "subst" "0.62797" "02416" "CDH23_000036" "g.73455308T>C" "" "{PMID:Roux 2011:21436283}" "+AciI;+BslI;" "" "homozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376236" "0" "11" "10" "73455308" "73455308" "subst" "0.62797" "02417" "CDH23_000036" "g.73455308T>C" "" "{PMID:Aparis 2013:23451239}" "+AciI;+BslI;" "" "heterozygous" "Germline" "" "rs3752750" "0" "" "" "g.71695551T>C" "" "benign" "" "0000376243" "0" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2006:16679490}" "+HpyCH4IV;+BmgBI;" "" "heterozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376244" "10" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2006:16679490}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376245" "20" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2006:16679490}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376246" "10" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2006:16679490}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376247" "20" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2006:16679490}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376248" "10" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376249" "20" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376250" "10" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376251" "20" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376252" "10" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376253" "20" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376254" "10" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376255" "20" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376256" "10" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376257" "20" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376258" "10" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376259" "20" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376260" "0" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "heterozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376261" "10" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376262" "20" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376263" "0" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "heterozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376264" "0" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "heterozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376265" "10" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376266" "20" "11" "10" "73455273" "73455273" "subst" "0.628055" "02416" "CDH23_000037" "g.73455273T>C" "" "{PMID:Roux 2011:21436283}" "+HpyCH4IV;+BmgBI;" "" "homozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376267" "0" "11" "10" "73455273" "73455273" "subst" "0.628055" "02417" "CDH23_000037" "g.73455273T>C" "" "{PMID:Aparis 2013:23451239}" "+HpyCH4IV;+BmgBI;" "" "heterozygous" "Germline" "" "rs3752751" "0" "" "" "g.71695516T>C" "" "benign" "" "0000376276" "0" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376277" "10" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376278" "20" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376279" "10" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376280" "20" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376281" "10" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376282" "20" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376283" "10" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376284" "20" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376285" "10" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376286" "20" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376287" "0" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376288" "10" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376289" "20" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376290" "0" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376291" "10" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376292" "20" "11" "10" "73455201" "73455201" "subst" "0.628345" "02416" "CDH23_000038" "g.73455201T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376293" "10" "11" "10" "73455201" "73455201" "subst" "0.628345" "02419" "CDH23_000038" "g.73455201T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Neutral" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376294" "20" "11" "10" "73455201" "73455201" "subst" "0.628345" "02419" "CDH23_000038" "g.73455201T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Neutral" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376295" "0" "11" "10" "73455201" "73455201" "subst" "0.628345" "02417" "CDH23_000038" "g.73455201T>C" "" "{PMID:Aparis 2013:23451239}" "none" "" "heterozygous" "Germline" "" "rs3752752" "0" "" "" "g.71695444T>C" "" "benign" "" "0000376303" "0" "35" "10" "73377112" "73377112" "subst" "0.00729672" "02416" "CDH23_000039" "g.73377112G>A" "0/200 controls" "{PMID:Ouyang 2005:15660226}; USMA-{USMACDH23A366T:} USMA-{MSV3dQ9H251p.Ala366Thr:}" "none" "" "heterozygous; likely pathologic" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "ACMG" "0000376304" "0" "35" "10" "73377112" "73377112" "subst" "0.00729672" "02416" "CDH23_000039" "g.73377112G>A" "0/200 controls" "{PMID:Ouyang 2005:15660226}; USMA-{USMACDH23A366T:} USMA-{MSV3dQ9H251p.Ala366Thr:}" "none" "" "heterozygous; likely pathologic" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "ACMG" "0000376305" "0" "35" "10" "73377112" "73377112" "subst" "0.00729672" "02416" "CDH23_000039" "g.73377112G>A" "0/200 controls" "{PMID:Ouyang 2005:15660226}; USMA-{USMACDH23A366T:} USMA-{MSV3dQ9H251p.Ala366Thr:}" "none" "" "heterozygous; likely pathologic" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "ACMG" "0000376306" "2" "35" "10" "73377112" "73377112" "subst" "0.00729672" "02416" "CDH23_000039" "g.73377112G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23A366T:} USMA-{MSV3dQ9H251p.Ala366Thr:}" "none" "" "heterozygous" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "ACMG" "0000376307" "1" "35" "10" "73377112" "73377112" "subst" "0.00729672" "02416" "CDH23_000039" "g.73377112G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23A366T:} USMA-{MSV3dQ9H251p.Ala366Thr:}" "none" "" "heterozygous; presumed pathogenic" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "ACMG" "0000376308" "1" "35" "10" "73377112" "73377112" "subst" "0.00729672" "02417" "CDH23_000039" "g.73377112G>A" "" "{PMID:Jaijo 2010:19683999}; USMA-{USMACDH23A366T:} USMA-{MSV3dQ9H251p.Ala366Thr:}" "none" "" "heterozygous; Pathological" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "ACMG" "0000376309" "0" "35" "10" "73377112" "73377112" "subst" "0.00729672" "02416" "CDH23_000039" "g.73377112G>A" "" "{PMID:Kimberling 2010:20613545}; USMA-{USMACDH23A366T:} USMA-{MSV3dQ9H251p.Ala366Thr:}" "none" "" "heterozygous; mutation" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "ACMG" "0000376310" "0" "35" "10" "73377112" "73377112" "subst" "0.00729672" "02416" "CDH23_000039" "g.73377112G>A" "" "{PMID:Kimberling 2010:20613545}; USMA-{USMACDH23A366T:} USMA-{MSV3dQ9H251p.Ala366Thr:}" "none" "" "heterozygous; mutation" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "ACMG" "0000376311" "0" "35" "10" "73377112" "73377112" "subst" "0.00729672" "02416" "CDH23_000039" "g.73377112G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A366T:} USMA-{MSV3dQ9H251p.Ala366Thr:}" "none" "" "heterozygous" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "ACMG" "0000376312" "0" "35" "10" "73377112" "73377112" "subst" "0.00729672" "02419" "CDH23_000039" "g.73377112G>A" "1/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23A366T:} USMA-{MSV3dQ9H251p.Ala366Thr:}" "none" "" "heterozygous; UV1" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "ACMG" "0000376313" "0" "35" "10" "73377112" "73377112" "subst" "0.00729672" "02419" "CDH23_000039" "g.73377112G>A" "1/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23A366T:} USMA-{MSV3dQ9H251p.Ala366Thr:}" "none" "" "heterozygous; UV1" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "ACMG" "0000376314" "0" "35" "10" "73377112" "73377112" "subst" "0.00729672" "02417" "CDH23_000039" "g.73377112G>A" "" "{PMID:Aparisi 2014:25404053}; USMA-{USMACDH23A366T:} USMA-{MSV3dQ9H251p.Ala366Thr:}" "none" "" "heterozygous; UV2" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "ACMG" "0000376315" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376316" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376317" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376318" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376319" "2" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "heterozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376320" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376321" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376322" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376323" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376324" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376325" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Ammar-Khodja 2009:19375528}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376326" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376327" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376328" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376329" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376330" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376331" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376332" "0" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376333" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376334" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376335" "0" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376336" "0" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376337" "0" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376338" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376339" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376340" "0" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376341" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376342" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02416" "CDH23_000040" "g.73270906T>C" "" "{PMID:Roux 2011:21436283}" "none" "" "homozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376343" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02419" "CDH23_000040" "g.73270906T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Neutral" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376344" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02419" "CDH23_000040" "g.73270906T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Neutral" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376345" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02419" "CDH23_000040" "g.73270906T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Neutral" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376346" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02419" "CDH23_000040" "g.73270906T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Neutral" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376347" "10" "11" "10" "73270906" "73270906" "subst" "0.661472" "02419" "CDH23_000040" "g.73270906T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Neutral" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376348" "20" "11" "10" "73270906" "73270906" "subst" "0.661472" "02419" "CDH23_000040" "g.73270906T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Neutral" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376349" "0" "11" "10" "73270906" "73270906" "subst" "0.661472" "02417" "CDH23_000040" "g.73270906T>C" "" "{PMID:Aparis 2013:23451239}" "none" "" "heterozygous" "Germline" "" "rs3802720" "0" "" "" "g.71511149T>C" "" "benign" "" "0000376354" "10" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2006:16679490}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376355" "10" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2006:16679490}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376356" "20" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2006:16679490}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376357" "10" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2006:16679490}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376358" "20" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2006:16679490}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376359" "2" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2006:16679490}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "heterozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376360" "20" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2006:16679490}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376361" "10" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2006:16679490}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376362" "20" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2006:16679490}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376363" "10" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Ammar-Khodja 2009:19375528}" "+BsaJI;+StyI;+BpuEI;+MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376364" "20" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Ammar-Khodja 2009:19375528}" "+BsaJI;+StyI;+BpuEI;+MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376365" "10" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376366" "20" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376367" "10" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376368" "20" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376369" "0" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "heterozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376370" "10" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376371" "20" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376372" "0" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "heterozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376373" "0" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "heterozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376374" "0" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "heterozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376375" "10" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376376" "20" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376377" "0" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "heterozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376378" "10" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376379" "20" "11" "10" "73270995" "73270995" "subst" "0.660245" "02416" "CDH23_000041" "g.73270995A>G" "" "{PMID:Roux 2011:21436283}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "homozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376380" "0" "11" "10" "73270995" "73270995" "subst" "0.660245" "02417" "CDH23_000041" "g.73270995A>G" "" "{PMID:Aparis 2013:23451239}" "+BsaJI;+StyI;-BpuEI;-MnlI;" "" "heterozygous" "Germline" "" "rs3802718" "0" "" "" "g.71511238A>G" "" "benign" "" "0000376385" "1" "99" "10" "73550106" "73550106" "subst" "0" "02416" "CDH23_000042" "g.73550106C>A" "" "{PMID:Vaché 2010:20513143}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71790349C>A" "" "pathogenic" "" "0000376386" "0" "15" "10" "73461805" "73461805" "subst" "0.043371" "02416" "CDH23_000043" "g.73461805G>A" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs76601590" "0" "" "" "g.71702048G>A" "" "likely benign" "ACMG" "0000376391" "0" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "heterozygous" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376392" "10" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "homozygous" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376393" "20" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "homozygous" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376394" "10" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "homozygous" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376395" "20" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "homozygous" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376396" "10" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "homozygous" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376397" "20" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "homozygous" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376398" "0" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "heterozygous" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376399" "0" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "heterozygous" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376400" "10" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "homozygous" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376401" "20" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "homozygous" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376402" "0" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "heterozygous" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376403" "0" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "heterozygous; non causative" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376404" "0" "11" "10" "73434888" "73434888" "subst" "0.201184" "02416" "CDH23_000044" "g.73434888G>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23G490A:} USMA-{MSV3dQ9H251p.Gly490Ala:}" "+BbvI;+BslI;+TseI;-Cac8I;-BanI;-NlaIV;" "" "heterozygous; non causative" "Germline" "" "rs1227049" "0" "" "" "g.71675131G>C" "" "benign" "" "0000376405" "10" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2006:16679490}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376406" "10" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2006:16679490}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376407" "20" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2006:16679490}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376408" "20" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2006:16679490}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376409" "10" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376410" "20" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376411" "10" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376412" "0" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "heterozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376413" "20" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376414" "10" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376415" "20" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376416" "10" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376417" "20" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376418" "0" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "heterozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376419" "10" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376420" "20" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376421" "0" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "heterozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376422" "0" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "heterozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376423" "10" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376424" "20" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376425" "0" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "heterozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376426" "10" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376427" "20" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Roux 2011:21436283}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "homozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376428" "0" "11" "10" "73270982" "73270982" "subst" "0.658981" "02417" "CDH23_000045" "g.73270982G>A" "" "{PMID:Aparis 2013:23451239}" "+BfaI;-TspRI;-BmrI;-BsrI;" "" "heterozygous" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376429" "10" "15" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Rong 2014:24831256}" "+BfaI;-TspRI;-BmrI;-BsrI;" "chr10:g.73270982G>A-c.442G>A-p.G148R in ENST00000224721" "homozygous; non causative" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376430" "20" "15" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Rong 2014:24831256}" "+BfaI;-TspRI;-BmrI;-BsrI;" "chr10:g.73270982G>A-c.442G>A-p.G148R in ENST00000224721" "homozygous; non causative" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376431" "10" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Rong 2014:24831256}" "+BfaI;-TspRI;-BmrI;-BsrI;" "chr10:g.73270982G>A-c.442G>A-p.G148R in ENST00000224721" "homozygous; non causative" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376432" "20" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Rong 2014:24831256}" "+BfaI;-TspRI;-BmrI;-BsrI;" "chr10:g.73270982G>A-c.442G>A-p.G148R in ENST00000224721" "homozygous; non causative" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376433" "0" "11" "10" "73270982" "73270982" "subst" "0.658981" "02416" "CDH23_000045" "g.73270982G>A" "" "{PMID:Rong 2014:24831256}" "+BfaI;-TspRI;-BmrI;-BsrI;" "chr10:g.73270982G>A-c.442G>A-p.G148R in ENST00000224721" "heterozygous; non causative" "Germline" "" "rs3802719" "0" "" "" "g.71511225G>A" "" "benign" "" "0000376438" "1" "99" "10" "73550170" "73550170" "subst" "2.90587E-5" "02416" "CDH23_000046" "g.73550170G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23G2017S:} USMA-{MSV3dQ9H251p.Gly2017Ser:}" "+BsrI;+TspRI;-SgrAI;-MspI;-HpaII;-BsaWI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71790413G>A" "" "pathogenic" "" "0000376439" "1" "99" "10" "73550170" "73550170" "subst" "2.90587E-5" "02416" "CDH23_000046" "g.73550170G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23G2017S:} USMA-{MSV3dQ9H251p.Gly2017Ser:}" "+BsrI;+TspRI;-SgrAI;-MspI;-HpaII;-BsaWI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71790413G>A" "" "pathogenic" "" "0000376440" "2" "99" "10" "73550170" "73550170" "subst" "2.90587E-5" "02416" "CDH23_000046" "g.73550170G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23G2017S:} USMA-{MSV3dQ9H251p.Gly2017Ser:}" "+BsrI;+TspRI;-SgrAI;-MspI;-HpaII;-BsaWI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71790413G>A" "" "pathogenic" "" "0000376441" "0" "99" "10" "73550170" "73550170" "subst" "2.90587E-5" "02417" "CDH23_000046" "g.73550170G>A" "" "{PMID:Aparisi 2013:23451239}; USMA-{USMACDH23G2017S:} USMA-{MSV3dQ9H251p.Gly2017Ser:}" "+BsrI;+TspRI;-SgrAI;-MspI;-HpaII;-BsaWI;" "Pathogenic - was shown in the article to affect splicing (p.(Thr1976_Gly2017del))" "heterozygous; Exon skipping" "Germline" "" "" "0" "" "" "g.71790413G>A" "" "pathogenic" "" "0000376442" "10" "99" "10" "73550170" "73550170" "subst" "2.90587E-5" "02416" "CDH23_000046" "g.73550170G>A" "" "{PMID:Aparisi 2014:25404053}; USMA-{USMACDH23G2017S:} USMA-{MSV3dQ9H251p.Gly2017Ser:}" "+BsrI;+TspRI;-SgrAI;-MspI;-HpaII;-BsaWI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71790413G>A" "" "pathogenic" "" "0000376443" "20" "99" "10" "73550170" "73550170" "subst" "2.90587E-5" "02416" "CDH23_000046" "g.73550170G>A" "" "{PMID:Aparisi 2014:25404053}; USMA-{USMACDH23G2017S:} USMA-{MSV3dQ9H251p.Gly2017Ser:}" "+BsrI;+TspRI;-SgrAI;-MspI;-HpaII;-BsaWI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71790413G>A" "" "pathogenic" "" "0000376444" "10" "99" "10" "73550170" "73550170" "subst" "2.90587E-5" "02428" "CDH23_000046" "g.73550170G>A" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23G2017S:} USMA-{MSV3dQ9H251p.Gly2017Ser:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71790413G>A" "" "pathogenic" "" "0000376445" "20" "99" "10" "73550170" "73550170" "subst" "2.90587E-5" "02428" "CDH23_000046" "g.73550170G>A" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23G2017S:} USMA-{MSV3dQ9H251p.Gly2017Ser:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71790413G>A" "" "pathogenic" "" "0000376446" "2" "99" "10" "73498354" "73498354" "subst" "4.06379E-6" "02416" "CDH23_000047" "g.73498354C>T" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71738597C>T" "" "pathogenic" "" "0000376447" "2" "99" "10" "73498354" "73498354" "subst" "4.06379E-6" "02416" "CDH23_000047" "g.73498354C>T" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71738597C>T" "" "pathogenic" "" "0000376448" "10" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2006:16679490}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376449" "20" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2006:16679490}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376450" "0" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2006:16679490}" "+BsmBI;-BsaI;-TspRI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376451" "0" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2006:16679490}" "+BsmBI;-BsaI;-TspRI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376452" "10" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2006:16679490}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376453" "20" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2006:16679490}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376454" "10" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Ammar-Khodja 2009:19375528}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376455" "20" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Ammar-Khodja 2009:19375528}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376456" "1" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376457" "10" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376458" "20" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376459" "0" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376460" "10" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376461" "20" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376462" "0" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376463" "10" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376464" "20" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376465" "10" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376466" "20" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376467" "10" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376468" "20" "11" "10" "73499561" "73499561" "subst" "0.502281" "02416" "CDH23_000048" "g.73499561C>G" "" "{PMID:Roux 2011:21436283}" "+BsmBI;-BsaI;-TspRI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376469" "0" "11" "10" "73499561" "73499561" "subst" "0.502281" "02417" "CDH23_000048" "g.73499561C>G" "" "{PMID:Aparis 2013:23451239}" "+BsmBI;-BsaI;-TspRI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71739804C>G" "" "benign" "" "0000376478" "1" "11" "10" "73434906" "73434906" "subst" "0.273871" "02416" "CDH23_000049" "g.73434906G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23S496N:} USMA-{MSV3dQ9H251p.Ser496Asn:}" "+HincII;+Hpy166II;-AluI;-CviKI_1" "" "heterozygous" "Germline" "" "rs10999947" "0" "" "" "g.71675149G>A" "" "benign" "" "0000376479" "0" "11" "10" "73434906" "73434906" "subst" "0.273871" "02416" "CDH23_000049" "g.73434906G>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23S496N:} USMA-{MSV3dQ9H251p.Ser496Asn:}" "+HincII;+Hpy166II;-AluI;-CviKI_1" "" "heterozygous" "Germline" "" "rs10999947" "0" "" "" "g.71675149G>A" "" "benign" "" "0000376480" "0" "11" "10" "73434906" "73434906" "subst" "0.273871" "02416" "CDH23_000049" "g.73434906G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23S496N:} USMA-{MSV3dQ9H251p.Ser496Asn:}" "+HincII;+Hpy166II;-AluI;-CviKI_1" "" "heterozygous" "Germline" "" "rs10999947" "0" "" "" "g.71675149G>A" "" "benign" "" "0000376481" "10" "11" "10" "73434906" "73434906" "subst" "0.273871" "02416" "CDH23_000049" "g.73434906G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23S496N:} USMA-{MSV3dQ9H251p.Ser496Asn:}" "+HincII;+Hpy166II;-AluI;-CviKI_1" "" "homozygous" "Germline" "" "rs10999947" "0" "" "" "g.71675149G>A" "" "benign" "" "0000376482" "20" "11" "10" "73434906" "73434906" "subst" "0.273871" "02416" "CDH23_000049" "g.73434906G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23S496N:} USMA-{MSV3dQ9H251p.Ser496Asn:}" "+HincII;+Hpy166II;-AluI;-CviKI_1" "" "homozygous" "Germline" "" "rs10999947" "0" "" "" "g.71675149G>A" "" "benign" "" "0000376483" "10" "11" "10" "73434906" "73434906" "subst" "0.273871" "02419" "CDH23_000049" "g.73434906G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23S496N:} USMA-{MSV3dQ9H251p.Ser496Asn:}" "+HincII;+Hpy166II;-AluI;-CviKI_1" "" "homozygous; Neutral" "Germline" "" "rs10999947" "0" "" "" "g.71675149G>A" "" "benign" "" "0000376484" "20" "11" "10" "73434906" "73434906" "subst" "0.273871" "02419" "CDH23_000049" "g.73434906G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23S496N:} USMA-{MSV3dQ9H251p.Ser496Asn:}" "+HincII;+Hpy166II;-AluI;-CviKI_1" "" "homozygous; Neutral" "Germline" "" "rs10999947" "0" "" "" "g.71675149G>A" "" "benign" "" "0000376485" "0" "11" "10" "73434906" "73434906" "subst" "0.273871" "02417" "CDH23_000049" "g.73434906G>A" "" "{PMID:Aparis 2013:23451239}; USMA-{USMACDH23S496N:} USMA-{MSV3dQ9H251p.Ser496Asn:}" "+HincII;+Hpy166II;-AluI;-CviKI_1" "" "heterozygous" "Germline" "" "rs10999947" "0" "" "" "g.71675149G>A" "" "benign" "" "0000376486" "0" "11" "10" "73434906" "73434906" "subst" "0.273871" "02416" "CDH23_000049" "g.73434906G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23S496N:} USMA-{MSV3dQ9H251p.Ser496Asn:}" "+HincII;+Hpy166II;-AluI;-CviKI_1" "" "heterozygous; non causative" "Germline" "" "rs10999947" "0" "" "" "g.71675149G>A" "" "benign" "" "0000376487" "10" "11" "10" "73326757" "73326757" "subst" "0" "02416" "CDH23_000050" "g.73326757C>T" "" "{PMID:Roux 2006:16679490}" "+BccI;-Tsp45I;" "" "homozygous" "Germline" "" "rs7087735" "0" "" "" "g.71567000C>T" "" "benign" "" "0000376488" "20" "11" "10" "73326757" "73326757" "subst" "0" "02416" "CDH23_000050" "g.73326757C>T" "" "{PMID:Roux 2006:16679490}" "+BccI;-Tsp45I;" "" "homozygous" "Germline" "" "rs7087735" "0" "" "" "g.71567000C>T" "" "benign" "" "0000376489" "0" "11" "10" "73326757" "73326757" "subst" "0" "02416" "CDH23_000050" "g.73326757C>T" "" "{PMID:Roux 2006:16679490}" "+BccI;-Tsp45I;" "" "heterozygous" "Germline" "" "rs7087735" "0" "" "" "g.71567000C>T" "" "benign" "" "0000376490" "10" "11" "10" "73326757" "73326757" "subst" "0" "02416" "CDH23_000050" "g.73326757C>T" "" "{PMID:Roux 2006:16679490}" "+BccI;-Tsp45I;" "" "homozygous" "Germline" "" "rs7087735" "0" "" "" "g.71567000C>T" "" "benign" "" "0000376491" "20" "11" "10" "73326757" "73326757" "subst" "0" "02416" "CDH23_000050" "g.73326757C>T" "" "{PMID:Roux 2006:16679490}" "+BccI;-Tsp45I;" "" "homozygous" "Germline" "" "rs7087735" "0" "" "" "g.71567000C>T" "" "benign" "" "0000376492" "1" "11" "10" "73326757" "73326757" "subst" "0" "02416" "CDH23_000050" "g.73326757C>T" "" "{PMID:Roux 2011:21436283}" "+BccI;-Tsp45I;" "" "heterozygous" "Germline" "" "rs7087735" "0" "" "" "g.71567000C>T" "" "benign" "" "0000376493" "0" "11" "10" "73326757" "73326757" "subst" "0" "02416" "CDH23_000050" "g.73326757C>T" "" "{PMID:Roux 2011:21436283}" "+BccI;-Tsp45I;" "" "heterozygous" "Germline" "" "rs7087735" "0" "" "" "g.71567000C>T" "" "benign" "" "0000376494" "0" "11" "10" "73326757" "73326757" "subst" "0" "02416" "CDH23_000050" "g.73326757C>T" "" "{PMID:Roux 2011:21436283}" "+BccI;-Tsp45I;" "" "heterozygous" "Germline" "" "rs7087735" "0" "" "" "g.71567000C>T" "" "benign" "" "0000376495" "0" "11" "10" "73326757" "73326757" "subst" "0" "02416" "CDH23_000050" "g.73326757C>T" "" "{PMID:Roux 2011:21436283}" "+BccI;-Tsp45I;" "" "heterozygous" "Germline" "" "rs7087735" "0" "" "" "g.71567000C>T" "" "benign" "" "0000376496" "10" "11" "10" "73326757" "73326757" "subst" "0" "02416" "CDH23_000050" "g.73326757C>T" "" "{PMID:Roux 2011:21436283}" "+BccI;-Tsp45I;" "" "homozygous" "Germline" "" "rs7087735" "0" "" "" "g.71567000C>T" "" "benign" "" "0000376497" "20" "11" "10" "73326757" "73326757" "subst" "0" "02416" "CDH23_000050" "g.73326757C>T" "" "{PMID:Roux 2011:21436283}" "+BccI;-Tsp45I;" "" "homozygous" "Germline" "" "rs7087735" "0" "" "" "g.71567000C>T" "" "benign" "" "0000376501" "0" "11" "10" "73205987" "73205987" "subst" "0" "02416" "CDH23_000051" "g.73205987C>A" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71446230C>A" "" "benign" "" "0000376502" "0" "11" "10" "73205987" "73205987" "subst" "0" "02416" "CDH23_000051" "g.73205987C>A" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71446230C>A" "" "benign" "" "0000376503" "1" "99" "10" "73565756" "73565756" "subst" "0" "02416" "CDH23_000052" "g.73565756T>C" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71805999T>C" "" "pathogenic" "" "0000376504" "2" "99" "10" "73552992" "73552992" "subst" "0" "02416" "CDH23_000053" "g.73552992G>T" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71793235G>T" "" "pathogenic" "" "0000376505" "2" "99" "10" "73552992" "73552992" "subst" "0" "02416" "CDH23_000053" "g.73552992G>T" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71793235G>T" "" "pathogenic" "" "0000376506" "0" "99" "10" "73552992" "73552992" "subst" "0" "02416" "CDH23_000053" "g.73552992G>T" "" "{PMID:Eisenberger 2013:24265693}" "" "6322G>T - p.(Glu2108*)" "heterozygous; likely pathogenic" "Germline" "" "" "0" "" "" "g.71793235G>T" "" "pathogenic" "" "0000376507" "2" "99" "10" "73550985" "73550992" "del" "0" "02416" "CDH23_000054" "g.73550985_73550992del" "" "{PMID:Baux 2008:18484607}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71791228_71791235del" "" "pathogenic" "" "0000376508" "1" "11" "10" "73548866" "73548866" "subst" "0" "02416" "CDH23_000055" "g.73548866G>A" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71789109G>A" "" "benign" "" "0000376517" "10" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376518" "20" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376519" "10" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376520" "20" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376521" "2" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "heterozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376522" "10" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376523" "20" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376524" "0" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "heterozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376525" "10" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376526" "20" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376527" "10" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376528" "20" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376529" "0" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "heterozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376530" "10" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376531" "20" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376532" "10" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376533" "20" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376534" "10" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376535" "20" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376536" "10" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376537" "20" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376538" "0" "11" "10" "73501556" "73501556" "subst" "0.773404" "02419" "CDH23_000056" "g.73501556G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "heterozygous; Neutral" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376539" "10" "11" "10" "73501556" "73501556" "subst" "0.773404" "02419" "CDH23_000056" "g.73501556G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous; Neutral" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376540" "20" "11" "10" "73501556" "73501556" "subst" "0.773404" "02419" "CDH23_000056" "g.73501556G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous; Neutral" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376541" "0" "11" "10" "73501556" "73501556" "subst" "0.773404" "02417" "CDH23_000056" "g.73501556G>A" "" "{PMID:Aparis 2013:23451239}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "heterozygous" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376542" "10" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous; non causative" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376543" "20" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous; non causative" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376544" "0" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "heterozygous; non causative" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376545" "10" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous; non causative" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376546" "20" "11" "10" "73501556" "73501556" "subst" "0.773404" "02416" "CDH23_000056" "g.73501556G>A" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23A1575T:} USMA-{MSV3dQ9H251p.Ala1575Thr:}" "-PhoI;-CviKI_1;-HaeIII;" "" "homozygous; non causative" "Germline" "" "rs1227051" "0" "" "" "g.71741799G>A" "" "benign" "" "0000376547" "1" "11" "10" "73498415" "73498415" "subst" "0.00406173" "02416" "CDH23_000057" "g.73498415G>A" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs12242607" "0" "" "" "g.71738658G>A" "" "benign" "" "0000376548" "1" "11" "10" "73466658" "73466658" "subst" "0.00373412" "02416" "CDH23_000058" "g.73466658G>A" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs74702249" "0" "" "" "g.71706901G>A" "" "benign" "" "0000376549" "1" "99" "10" "73447402" "73447402" "subst" "0" "02416" "CDH23_000059" "g.73447402A>C" "" "{PMID:Baux 2008:18484607}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71687645A>C" "" "pathogenic" "" "0000376550" "0" "11" "10" "73447555" "73447555" "subst" "0" "02416" "CDH23_000060" "g.73447555C>T" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "rs1227086" "0" "" "" "g.71687798C>T" "" "benign" "" "0000376551" "10" "11" "10" "73447555" "73447555" "subst" "0" "02416" "CDH23_000060" "g.73447555C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs1227086" "0" "" "" "g.71687798C>T" "" "benign" "" "0000376552" "20" "11" "10" "73447555" "73447555" "subst" "0" "02416" "CDH23_000060" "g.73447555C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs1227086" "0" "" "" "g.71687798C>T" "" "benign" "" "0000376553" "0" "11" "10" "73447555" "73447555" "subst" "0" "02416" "CDH23_000060" "g.73447555C>T" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs1227086" "0" "" "" "g.71687798C>T" "" "benign" "" "0000376554" "0" "11" "10" "73447555" "73447555" "subst" "0" "02416" "CDH23_000060" "g.73447555C>T" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs1227086" "0" "" "" "g.71687798C>T" "" "benign" "" "0000376555" "10" "11" "10" "73447555" "73447555" "subst" "0" "02416" "CDH23_000060" "g.73447555C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs1227086" "0" "" "" "g.71687798C>T" "" "benign" "" "0000376556" "20" "11" "10" "73447555" "73447555" "subst" "0" "02416" "CDH23_000060" "g.73447555C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs1227086" "0" "" "" "g.71687798C>T" "" "benign" "" "0000376557" "10" "11" "10" "73468994" "73468994" "subst" "0" "02416" "CDH23_000061" "g.73468994A>G" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71709237A>G" "" "benign" "" "0000376558" "20" "11" "10" "73468994" "73468994" "subst" "0" "02416" "CDH23_000061" "g.73468994A>G" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71709237A>G" "" "benign" "" "0000376559" "2" "99" "10" "73468968" "73468968" "subst" "1.22198E-5" "02428" "CDH23_000061" "g.73468968G>A" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23D1074N:} USMA-{MSV3dQ9H251p.Asp1074Asn:}" "" "" "heterozygous; mutation" "Germline" "" "rs750452808" "0" "" "" "g.71709211G>A" "" "pathogenic" "" "0000376560" "10" "99" "10" "73199653" "73199653" "subst" "0" "02416" "CDH23_000062" "g.73199653G>A" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71439896G>A" "" "pathogenic" "" "0000376561" "20" "99" "10" "73199653" "73199653" "subst" "0" "02416" "CDH23_000062" "g.73199653G>A" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71439896G>A" "" "pathogenic" "" "0000376562" "2" "99" "10" "73562832" "73562832" "subst" "0" "02416" "CDH23_000063" "g.73562832G>T" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71803075G>T" "" "pathogenic" "" "0000376563" "1" "75" "10" "73330661" "73330661" "subst" "0" "02416" "CDH23_000064" "g.73330661G>A" "0/168 controls" "{PMID:Roux 2006:16679490}; USMA-{USMACDH23E247K:} USMA-{MSV3dQ9H251p.Glu247Lys:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71570904G>A" "" "VUS" "ACMG" "0000376564" "1" "11" "10" "73330454" "73330454" "subst" "0" "02416" "CDH23_000065" "g.73330454G>A" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "rs736717" "0" "" "" "g.71570697G>A" "" "benign" "" "0000376567" "10" "99" "10" "73485179" "73485179" "subst" "0" "02416" "CDH23_000066" "g.73485179C>T" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71725422C>T" "" "pathogenic" "" "0000376568" "20" "99" "10" "73485179" "73485179" "subst" "0" "02416" "CDH23_000066" "g.73485179C>T" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71725422C>T" "" "pathogenic" "" "0000376569" "0" "11" "10" "73569916" "73569916" "subst" "0" "02416" "CDH23_000067" "g.73569916T>C" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71810159T>C" "" "benign" "" "0000376570" "2" "99" "10" "73548695" "73548695" "subst" "0" "02416" "CDH23_000068" "g.73548695A>G" "" "{PMID:Baux 2008:18484607}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71788938A>G" "" "pathogenic" "" "0000376571" "2" "99" "10" "73548695" "73548695" "subst" "0" "02416" "CDH23_000068" "g.73548695A>G" "" "{PMID:Yoshimura 2014:24618850}" "" "" "heterozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.71788938A>G" "" "pathogenic" "" "0000376574" "0" "11" "10" "73537614" "73537614" "subst" "0.179967" "02416" "CDH23_000069" "g.73537614G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMACDH23V1675I:} USMA-{MSV3dQ9H251p.Val1675Ile:}" "" "" "heterozygous" "Germline" "" "rs17712523" "0" "" "" "g.71777857G>A" "" "benign" "" "0000376575" "0" "11" "10" "73537614" "73537614" "subst" "0.179967" "02417" "CDH23_000069" "g.73537614G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMACDH23V1675I:} USMA-{MSV3dQ9H251p.Val1675Ile:}" "" "" "heterozygous" "Germline" "" "rs17712523" "0" "" "" "g.71777857G>A" "" "benign" "" "0000376576" "0" "15" "10" "73537614" "73537614" "subst" "0.179967" "02416" "CDH23_000069" "g.73537614G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMACDH23V1675I:} USMA-{MSV3dQ9H251p.Val1675Ile:}" "" "" "heterozygous" "Germline" "" "rs17712523" "0" "" "" "g.71777857G>A" "" "benign" "" "0000376577" "0" "11" "10" "73537614" "73537614" "subst" "0.179967" "02416" "CDH23_000069" "g.73537614G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMACDH23V1675I:} USMA-{MSV3dQ9H251p.Val1675Ile:}" "" "" "heterozygous" "Germline" "" "rs17712523" "0" "" "" "g.71777857G>A" "" "benign" "" "0000376578" "10" "11" "10" "73498436" "73498436" "subst" "0" "02416" "CDH23_000070" "g.73498436C>G" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71738679C>G" "" "benign" "" "0000376579" "20" "11" "10" "73498436" "73498436" "subst" "0" "02416" "CDH23_000070" "g.73498436C>G" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71738679C>G" "" "benign" "" "0000376580" "0" "11" "10" "73494395" "73494395" "subst" "0.0163825" "02416" "CDH23_000071" "g.73494395T>C" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs77770890" "0" "" "" "g.71734638T>C" "" "benign" "" "0000376581" "0" "11" "10" "73494395" "73494395" "subst" "0.0163825" "02416" "CDH23_000071" "g.73494395T>C" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs77770890" "0" "" "" "g.71734638T>C" "" "benign" "" "0000376582" "10" "11" "10" "73494395" "73494395" "subst" "0.0163825" "02416" "CDH23_000071" "g.73494395T>C" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs77770890" "0" "" "" "g.71734638T>C" "" "benign" "" "0000376583" "20" "11" "10" "73494395" "73494395" "subst" "0.0163825" "02416" "CDH23_000071" "g.73494395T>C" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs77770890" "0" "" "" "g.71734638T>C" "" "benign" "" "0000376584" "1" "99" "10" "73490359" "73490360" "del" "0" "02416" "CDH23_000072" "g.73490359_73490360del" "" "{PMID:Baux 2008:18484607}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71730602_71730603del" "" "pathogenic" "" "0000376585" "0" "11" "10" "73571678" "73571678" "subst" "0.0146356" "02416" "CDH23_000073" "g.73571678C>T" "" "{PMID:Roux 2011:21436283}" "none" "" "heterozygous" "Germline" "" "rs41281342" "0" "" "" "g.71811921C>T" "" "benign" "" "0000376586" "0" "11" "10" "73571678" "73571678" "subst" "0.0146356" "02419" "CDH23_000073" "g.73571678C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41281342" "0" "" "" "g.71811921C>T" "" "benign" "" "0000376587" "0" "11" "10" "73571678" "73571678" "subst" "0.0146356" "02419" "CDH23_000073" "g.73571678C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41281342" "0" "" "" "g.71811921C>T" "" "benign" "" "0000376588" "0" "11" "10" "73571678" "73571678" "subst" "0.0146356" "02419" "CDH23_000073" "g.73571678C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41281342" "0" "" "" "g.71811921C>T" "" "benign" "" "0000376589" "0" "11" "10" "73571678" "73571678" "subst" "0.0146356" "02419" "CDH23_000073" "g.73571678C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41281342" "0" "" "" "g.71811921C>T" "" "benign" "" "0000376590" "0" "11" "10" "73571678" "73571678" "subst" "0.0146356" "02419" "CDH23_000073" "g.73571678C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs41281342" "0" "" "" "g.71811921C>T" "" "benign" "" "0000376591" "0" "11" "10" "73544638" "73544638" "subst" "0.199327" "02416" "CDH23_000074" "g.73544638A>G" "" "{PMID:Roux 2011:21436283}" "+CviKI_1;+Cac8I;-Hpy188I;-BsrI;" "" "heterozygous" "Germline" "" "rs2394839" "0" "" "" "g.71784881A>G" "" "benign" "" "0000376592" "0" "11" "10" "73544638" "73544638" "subst" "0.199327" "02416" "CDH23_000074" "g.73544638A>G" "" "{PMID:Roux 2011:21436283}" "+CviKI_1;+Cac8I;-Hpy188I;-BsrI;" "" "heterozygous" "Germline" "" "rs2394839" "0" "" "" "g.71784881A>G" "" "benign" "" "0000376593" "10" "11" "10" "73544638" "73544638" "subst" "0.199327" "02416" "CDH23_000074" "g.73544638A>G" "" "{PMID:Roux 2011:21436283}" "+CviKI_1;+Cac8I;-Hpy188I;-BsrI;" "" "homozygous" "Germline" "" "rs2394839" "0" "" "" "g.71784881A>G" "" "benign" "" "0000376594" "20" "11" "10" "73544638" "73544638" "subst" "0.199327" "02416" "CDH23_000074" "g.73544638A>G" "" "{PMID:Roux 2011:21436283}" "+CviKI_1;+Cac8I;-Hpy188I;-BsrI;" "" "homozygous" "Germline" "" "rs2394839" "0" "" "" "g.71784881A>G" "" "benign" "" "0000376595" "0" "11" "10" "73544638" "73544638" "subst" "0.199327" "02416" "CDH23_000074" "g.73544638A>G" "" "{PMID:Rong 2014:24831256}" "+CviKI_1;+Cac8I;-Hpy188I;-BsrI;" "c.5518-10A>G in ENST00000224721" "heterozygous; non causative" "Germline" "" "rs2394839" "0" "" "" "g.71784881A>G" "" "benign" "" "0000376596" "10" "11" "10" "73544638" "73544638" "subst" "0.199327" "02416" "CDH23_000074" "g.73544638A>G" "" "{PMID:Rong 2014:24831256}" "+CviKI_1;+Cac8I;-Hpy188I;-BsrI;" "c.5518-10A>G in ENST00000224721" "homozygous; non causative" "Germline" "" "rs2394839" "0" "" "" "g.71784881A>G" "" "benign" "" "0000376597" "20" "11" "10" "73544638" "73544638" "subst" "0.199327" "02416" "CDH23_000074" "g.73544638A>G" "" "{PMID:Rong 2014:24831256}" "+CviKI_1;+Cac8I;-Hpy188I;-BsrI;" "c.5518-10A>G in ENST00000224721" "homozygous; non causative" "Germline" "" "rs2394839" "0" "" "" "g.71784881A>G" "" "benign" "" "0000376598" "10" "11" "10" "73544638" "73544638" "subst" "0.199327" "02416" "CDH23_000074" "g.73544638A>G" "" "{PMID:Rong 2014:24831256}" "+CviKI_1;+Cac8I;-Hpy188I;-BsrI;" "chr10:g.73544638A>G-c.1840-10A>G in ENST00000224721" "homozygous; non causative" "Germline" "" "rs2394839" "0" "" "" "g.71784881A>G" "" "benign" "" "0000376599" "20" "11" "10" "73544638" "73544638" "subst" "0.199327" "02416" "CDH23_000074" "g.73544638A>G" "" "{PMID:Rong 2014:24831256}" "+CviKI_1;+Cac8I;-Hpy188I;-BsrI;" "chr10:g.73544638A>G-c.1840-10A>G in ENST00000224721" "homozygous; non causative" "Germline" "" "rs2394839" "0" "" "" "g.71784881A>G" "" "benign" "" "0000376600" "0" "11" "10" "73544604" "73544604" "subst" "0.180262" "02416" "CDH23_000075" "g.73544604T>C" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs7068810" "0" "" "" "g.71784847T>C" "" "benign" "" "0000376601" "0" "11" "10" "73544604" "73544604" "subst" "0.180262" "02416" "CDH23_000075" "g.73544604T>C" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs7068810" "0" "" "" "g.71784847T>C" "" "benign" "" "0000376602" "0" "11" "10" "73466842" "73466842" "subst" "0" "02416" "CDH23_000076" "g.73466842C>A" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71707085C>A" "" "benign" "" "0000376603" "2" "35" "10" "73453966" "73453966" "subst" "0.001073" "02416" "CDH23_000077" "g.73453966C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23R747C:} USMA-{MSV3dQ9H251p.Arg747Cys:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694209C>T" "" "likely benign" "ACMG" "0000376604" "0" "11" "10" "73439101" "73439101" "subst" "0.955751" "02416" "CDH23_000078" "g.73439101T>C" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs1227042" "0" "" "" "g.71679344T>C" "" "benign" "" "0000376605" "0" "11" "10" "73326476" "73326476" "subst" "0.000418965" "02416" "CDH23_000079" "g.73326476A>C" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71566719A>C" "" "benign" "" "0000376606" "1" "75" "10" "73270967" "73270967" "subst" "0" "02416" "CDH23_000080" "g.73270967G>C" "0/170 controls" "{PMID:Baux 2008:18484607}; USMA-{USMACDH23E143Q:} USMA-{MSV3dQ9H251p.Glu143Gln:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511210G>C" "" "VUS" "ACMG" "0000376607" "0" "11" "10" "73270784" "73270784" "subst" "0" "02416" "CDH23_000081" "g.73270784G>C" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511027G>C" "" "benign" "" "0000376608" "2" "99" "10" "73269965" "73269965" "del" "0" "02416" "CDH23_000082" "g.73269965del" "" "{PMID:Baux 2008:18484607}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71510208del" "" "pathogenic" "" "0000376609" "10" "11" "10" "73574948" "73574948" "subst" "0.00480535" "02416" "CDH23_000083" "g.73574948C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs73277900" "0" "" "" "g.71815191C>T" "" "benign" "" "0000376610" "20" "11" "10" "73574948" "73574948" "subst" "0.00480535" "02416" "CDH23_000083" "g.73574948C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs73277900" "0" "" "" "g.71815191C>T" "" "benign" "" "0000376611" "10" "11" "10" "73572385" "73572391" "del" "0" "02416" "CDH23_000084" "g.73572385_73572391del" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812628_71812634del" "" "benign" "" "0000376612" "20" "11" "10" "73572385" "73572391" "del" "0" "02416" "CDH23_000084" "g.73572385_73572391del" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812628_71812634del" "" "benign" "" "0000376613" "10" "11" "10" "73553177" "73553177" "subst" "0.00572843" "02416" "CDH23_000085" "g.73553177C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793420C>T" "" "benign" "" "0000376614" "20" "11" "10" "73553177" "73553177" "subst" "0.00572843" "02416" "CDH23_000085" "g.73553177C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793420C>T" "" "benign" "" "0000376615" "10" "11" "10" "73551088" "73551088" "subst" "0.00570089" "02416" "CDH23_000086" "g.73551088G>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs55964031" "0" "" "" "g.71791331G>A" "" "benign" "" "0000376616" "20" "11" "10" "73551088" "73551088" "subst" "0.00570089" "02416" "CDH23_000086" "g.73551088G>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs55964031" "0" "" "" "g.71791331G>A" "" "benign" "" "0000376617" "10" "11" "10" "73538967" "73538967" "subst" "0" "02416" "CDH23_000087" "g.73538967G>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs73277827" "0" "" "" "g.71779210G>A" "" "benign" "" "0000376618" "20" "11" "10" "73538967" "73538967" "subst" "0" "02416" "CDH23_000087" "g.73538967G>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs73277827" "0" "" "" "g.71779210G>A" "" "benign" "" "0000376619" "10" "11" "10" "73500749" "73500749" "subst" "0.00542001" "02416" "CDH23_000088" "g.73500749G>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs112186883" "0" "" "" "g.71740992G>T" "" "benign" "" "0000376620" "20" "11" "10" "73500749" "73500749" "subst" "0.00542001" "02416" "CDH23_000088" "g.73500749G>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs112186883" "0" "" "" "g.71740992G>T" "" "benign" "" "0000376621" "10" "11" "10" "73500599" "73500599" "subst" "0.048315" "02416" "CDH23_000089" "g.73500599C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs10999978" "0" "" "" "g.71740842C>T" "" "benign" "" "0000376622" "20" "11" "10" "73500599" "73500599" "subst" "0.048315" "02416" "CDH23_000089" "g.73500599C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs10999978" "0" "" "" "g.71740842C>T" "" "benign" "" "0000376623" "10" "11" "10" "73490214" "73490214" "subst" "0.0121849" "02416" "CDH23_000090" "g.73490214C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs73275848" "0" "" "" "g.71730457C>T" "" "benign" "" "0000376624" "20" "11" "10" "73490214" "73490214" "subst" "0.0121849" "02416" "CDH23_000090" "g.73490214C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs73275848" "0" "" "" "g.71730457C>T" "" "benign" "" "0000376627" "10" "35" "10" "73490271" "73490271" "subst" "0.010663" "02416" "CDH23_000091" "g.73490271A>G" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "homozygous" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376628" "20" "35" "10" "73490271" "73490271" "subst" "0.010663" "02416" "CDH23_000091" "g.73490271A>G" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "homozygous" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376629" "10" "35" "10" "73490271" "73490271" "subst" "0.010663" "02416" "CDH23_000091" "g.73490271A>G" "0/200 controls" "{PMID:Zheng 2005:15537665}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "homozygous" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376630" "20" "35" "10" "73490271" "73490271" "subst" "0.010663" "02416" "CDH23_000091" "g.73490271A>G" "0/200 controls" "{PMID:Zheng 2005:15537665}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "homozygous" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376631" "10" "35" "10" "73490271" "73490271" "subst" "0.010663" "02416" "CDH23_000091" "g.73490271A>G" "0/200 controls" "{PMID:Ouyang 2005:15660226}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "homozygous" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376632" "20" "35" "10" "73490271" "73490271" "subst" "0.010663" "02416" "CDH23_000091" "g.73490271A>G" "0/200 controls" "{PMID:Ouyang 2005:15660226}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "homozygous" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376633" "0" "35" "10" "73490271" "73490271" "subst" "0.010663" "02417" "CDH23_000091" "g.73490271A>G" "" "{PMID:Jaijo 2010:19683999}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "heterozygous" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376634" "2" "35" "10" "73490271" "73490271" "subst" "0.010663" "02417" "CDH23_000091" "g.73490271A>G" "" "{PMID:Jaijo 2010:19683999}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "heterozygous" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376635" "0" "35" "10" "73490271" "73490271" "subst" "0.010663" "02416" "CDH23_000091" "g.73490271A>G" "" "{PMID:Kimberling 2010:20613545}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" ".3640A>G - p.Thr1214Ala" "homozygous" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376636" "10" "35" "10" "73490271" "73490271" "subst" "0.010663" "02416" "CDH23_000091" "g.73490271A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "homozygous" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376637" "20" "35" "10" "73490271" "73490271" "subst" "0.010663" "02416" "CDH23_000091" "g.73490271A>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "homozygous" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376638" "0" "35" "10" "73490271" "73490271" "subst" "0.010663" "02416" "CDH23_000091" "g.73490271A>G" "" "{PMID:Vozzi 2011:21738395}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "heterozygous; non pathogenic" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376639" "1" "35" "10" "73490271" "73490271" "subst" "0.010663" "02416" "CDH23_000091" "g.73490271A>G" "" "{PMID:Vozzi 2011:21738395}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "heterozygous; Mutation" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376640" "0" "35" "10" "73490271" "73490271" "subst" "0.010663" "02416" "CDH23_000091" "g.73490271A>G" "" "{PMID:Licastro 2012:22952768}; USMA-{USMACDH23T1209A:} USMA-{MSV3dQ9H251p.Thr1209Ala:}" "-Hpy166II" "" "heterozygous" "Germline" "" "rs41281314" "0" "" "" "g.71730514A>G" "" "likely benign" "ACMG" "0000376641" "10" "99" "10" "73461969" "73461969" "subst" "4.09122E-6" "02416" "CDH23_000092" "g.73461969G>A" "" "{PMID:Baux 2008:18484607}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71702212G>A" "" "pathogenic" "" "0000376642" "20" "99" "10" "73461969" "73461969" "subst" "4.09122E-6" "02416" "CDH23_000092" "g.73461969G>A" "" "{PMID:Baux 2008:18484607}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71702212G>A" "" "pathogenic" "" "0000376643" "10" "11" "10" "73439328" "73439328" "subst" "0" "02416" "CDH23_000093" "g.73439328A>G" "" "{PMID:Ammar-Khodja 2009:19375528}" "" "" "homozygous" "Germline" "" "rs3802716" "0" "" "" "g.71679571A>G" "" "benign" "" "0000376644" "20" "11" "10" "73439328" "73439328" "subst" "0" "02416" "CDH23_000093" "g.73439328A>G" "" "{PMID:Ammar-Khodja 2009:19375528}" "" "" "homozygous" "Germline" "" "rs3802716" "0" "" "" "g.71679571A>G" "" "benign" "" "0000376645" "10" "11" "10" "73439328" "73439328" "subst" "0" "02416" "CDH23_000093" "g.73439328A>G" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs3802716" "0" "" "" "g.71679571A>G" "" "benign" "" "0000376646" "20" "11" "10" "73439328" "73439328" "subst" "0" "02416" "CDH23_000093" "g.73439328A>G" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs3802716" "0" "" "" "g.71679571A>G" "" "benign" "" "0000376649" "10" "11" "10" "73199595" "73199595" "subst" "0.0453575" "02416" "CDH23_000094" "g.73199595C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23R3C:} USMA-{MSV3dQ9H251p.Arg3Cys:}" "" "" "homozygous" "Germline" "" "rs7902757" "0" "" "" "g.71439838C>T" "" "benign" "" "0000376650" "20" "11" "10" "73199595" "73199595" "subst" "0.0453575" "02416" "CDH23_000094" "g.73199595C>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23R3C:} USMA-{MSV3dQ9H251p.Arg3Cys:}" "" "" "homozygous" "Germline" "" "rs7902757" "0" "" "" "g.71439838C>T" "" "benign" "" "0000376651" "2" "99" "10" "73490225" "73490225" "subst" "0" "02416" "CDH23_000095" "g.73490225G>T" "" "{PMID:Blanchet 2007:18323324}" "" "" "heterozygous; skipping of exon 30 and transcript with deletion of the 51 first bp of exon 30 (Vaché , 2010)" "Germline" "" "" "0" "" "" "g.71730468G>T" "" "pathogenic" "" "0000376652" "1" "99" "10" "73472568" "73472568" "subst" "0" "02416" "CDH23_000096" "g.73472568C>T" "" "{PMID:Blanchet 2007:18323324}" "-HpyCH4V;-Cac8I;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71712811C>T" "" "pathogenic" "" "0000376653" "0" "99" "10" "73472568" "73472568" "subst" "0" "02416" "CDH23_000096" "g.73472568C>T" "" "{PMID:Roux 2011:21436283}" "-HpyCH4V;-Cac8I;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71712811C>T" "" "pathogenic" "" "0000376654" "1" "99" "10" "73472568" "73472568" "subst" "0" "02428" "CDH23_000096" "g.73472568C>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71712811C>T" "" "pathogenic" "" "0000376655" "10" "11" "10" "73574843" "73574843" "subst" "0.132127" "02416" "CDH23_000097" "g.73574843G>A" "" "{PMID:Roux 2011:21436283}" "+BtsI;+TspRI;-Fnu4HI;-ApeKI;-BbvI;-TseI;" "" "homozygous" "Germline" "" "rs2290021" "0" "" "" "g.71815086G>A" "" "benign" "" "0000376656" "20" "11" "10" "73574843" "73574843" "subst" "0.132127" "02416" "CDH23_000097" "g.73574843G>A" "" "{PMID:Roux 2011:21436283}" "+BtsI;+TspRI;-Fnu4HI;-ApeKI;-BbvI;-TseI;" "" "homozygous" "Germline" "" "rs2290021" "0" "" "" "g.71815086G>A" "" "benign" "" "0000376657" "10" "11" "10" "73574843" "73574843" "subst" "0.132127" "02416" "CDH23_000097" "g.73574843G>A" "" "{PMID:Roux 2011:21436283}" "+BtsI;+TspRI;-Fnu4HI;-ApeKI;-BbvI;-TseI;" "" "homozygous" "Germline" "" "rs2290021" "0" "" "" "g.71815086G>A" "" "benign" "" "0000376658" "20" "11" "10" "73574843" "73574843" "subst" "0.132127" "02416" "CDH23_000097" "g.73574843G>A" "" "{PMID:Roux 2011:21436283}" "+BtsI;+TspRI;-Fnu4HI;-ApeKI;-BbvI;-TseI;" "" "homozygous" "Germline" "" "rs2290021" "0" "" "" "g.71815086G>A" "" "benign" "" "0000376659" "10" "11" "10" "73571765" "73571765" "subst" "0.073821" "02416" "CDH23_000098" "g.73571765T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23F3125L:} USMA-{MSV3dQ9H251p.Phe3125Leu:}" "" "" "homozygous" "Germline" "" "rs45583140" "0" "" "" "g.71812008T>C" "" "benign" "" "0000376660" "20" "11" "10" "73571765" "73571765" "subst" "0.073821" "02416" "CDH23_000098" "g.73571765T>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23F3125L:} USMA-{MSV3dQ9H251p.Phe3125Leu:}" "" "" "homozygous" "Germline" "" "rs45583140" "0" "" "" "g.71812008T>C" "" "benign" "" "0000376661" "0" "11" "10" "73571765" "73571765" "subst" "0.073821" "02416" "CDH23_000098" "g.73571765T>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23F3125L:} USMA-{MSV3dQ9H251p.Phe3125Leu:}" "" "chr10:g.73571735T>C-c.2653T>C-p.F885L in ENST00000224721" "heterozygous; non causative" "Germline" "" "rs45583140" "0" "" "" "g.71812008T>C" "" "benign" "" "0000376662" "0" "11" "10" "73571765" "73571765" "subst" "0.073821" "02416" "CDH23_000098" "g.73571765T>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23F3125L:} USMA-{MSV3dQ9H251p.Phe3125Leu:}" "" "chr10:g.73571735T>C-c.2653T>C-p.F885L in ENST00000224721" "heterozygous; non causative" "Germline" "" "rs45583140" "0" "" "" "g.71812008T>C" "" "benign" "" "0000376663" "10" "11" "10" "73571765" "73571765" "subst" "0.073821" "02416" "CDH23_000098" "g.73571765T>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23F3125L:} USMA-{MSV3dQ9H251p.Phe3125Leu:}" "" "chr10:g.73571735T>C-c.2653T>C-p.F885L in ENST00000224721" "homozygous; non causative" "Germline" "" "rs45583140" "0" "" "" "g.71812008T>C" "" "benign" "" "0000376664" "20" "11" "10" "73571765" "73571765" "subst" "0.073821" "02416" "CDH23_000098" "g.73571765T>C" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23F3125L:} USMA-{MSV3dQ9H251p.Phe3125Leu:}" "" "chr10:g.73571735T>C-c.2653T>C-p.F885L in ENST00000224721" "homozygous; non causative" "Germline" "" "rs45583140" "0" "" "" "g.71812008T>C" "" "benign" "" "0000376665" "10" "11" "10" "73571619" "73571619" "subst" "0" "02416" "CDH23_000099" "g.73571619C>G" "" "{PMID:Roux 2011:21436283}" "+SfaNI;-NlaIII;-AvaII;-FatI;-CviAII;-Sau96I;" "" "homozygous" "Germline" "" "rs41281340" "0" "" "" "g.71811862C>G" "" "benign" "" "0000376666" "20" "11" "10" "73571619" "73571619" "subst" "0" "02416" "CDH23_000099" "g.73571619C>G" "" "{PMID:Roux 2011:21436283}" "+SfaNI;-NlaIII;-AvaII;-FatI;-CviAII;-Sau96I;" "" "homozygous" "Germline" "" "rs41281340" "0" "" "" "g.71811862C>G" "" "benign" "" "0000376667" "0" "11" "10" "73571619" "73571619" "subst" "0" "02416" "CDH23_000099" "g.73571619C>G" "" "{PMID:Roux 2011:21436283}" "+SfaNI;-NlaIII;-AvaII;-FatI;-CviAII;-Sau96I;" "" "heterozygous" "Germline" "" "rs41281340" "0" "" "" "g.71811862C>G" "" "benign" "" "0000376668" "10" "11" "10" "73571619" "73571619" "subst" "0" "02416" "CDH23_000099" "g.73571619C>G" "" "{PMID:Roux 2011:21436283}" "+SfaNI;-NlaIII;-AvaII;-FatI;-CviAII;-Sau96I;" "" "homozygous" "Germline" "" "rs41281340" "0" "" "" "g.71811862C>G" "" "benign" "" "0000376669" "20" "11" "10" "73571619" "73571619" "subst" "0" "02416" "CDH23_000099" "g.73571619C>G" "" "{PMID:Roux 2011:21436283}" "+SfaNI;-NlaIII;-AvaII;-FatI;-CviAII;-Sau96I;" "" "homozygous" "Germline" "" "rs41281340" "0" "" "" "g.71811862C>G" "" "benign" "" "0000376670" "0" "11" "10" "73569761" "73569761" "subst" "0.0163039" "02416" "CDH23_000100" "g.73569761C>T" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs11000010" "0" "" "" "g.71810004C>T" "" "benign" "" "0000376671" "0" "11" "10" "73559227" "73559227" "subst" "0.123034" "02416" "CDH23_000101" "g.73559227C>T" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs3802708" "0" "" "" "g.71799470C>T" "" "benign" "" "0000376672" "0" "11" "10" "73538138" "73538138" "subst" "0" "02416" "CDH23_000102" "g.73538138C>T" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs10823843" "0" "" "" "g.71778381C>T" "" "benign" "" "0000376673" "10" "11" "10" "73538138" "73538138" "subst" "0" "02416" "CDH23_000102" "g.73538138C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs10823843" "0" "" "" "g.71778381C>T" "" "benign" "" "0000376674" "20" "11" "10" "73538138" "73538138" "subst" "0" "02416" "CDH23_000102" "g.73538138C>T" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs10823843" "0" "" "" "g.71778381C>T" "" "benign" "" "0000376675" "0" "11" "10" "73450146" "73450146" "subst" "0" "02416" "CDH23_000103" "g.73450146C>T" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71690389C>T" "" "benign" "" "0000376676" "0" "95" "10" "73563177" "73563177" "subst" "0" "02416" "CDH23_000104" "g.73563177G>A" "+ScaI;+MnlI;" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71803420G>A" "" "likely pathogenic" "ACMG" "0000376677" "1" "95" "10" "73563177" "73563177" "subst" "0" "02416" "CDH23_000104" "g.73563177G>A" "0/200 controls" "{PMID:Le Guédard-Méreuze 2010:20052763}" "+ScaI;+MnlI;" "" "heterozygous; ins first 86 nt IVS54" "Germline" "" "" "0" "" "" "g.71803420G>A" "" "likely pathogenic" "ACMG" "0000376678" "21" "95" "10" "73563177" "73563177" "subst" "0" "02416" "CDH23_000104" "g.73563177G>A" "" "{PMID:Schultz 2011:21940737}" "+ScaI;+MnlI;" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71803420G>A" "" "likely pathogenic" "ACMG" "0000376679" "0" "95" "10" "73563177" "73563177" "subst" "0" "02416" "CDH23_000104" "g.73563177G>A" "" "{PMID:Schultz 2011:21940737}" "+ScaI;+MnlI;" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71803420G>A" "" "likely pathogenic" "ACMG" "0000376680" "2" "99" "10" "73558307" "73558307" "del" "0" "02416" "CDH23_000105" "g.73558307del" "" "{PMID:Baux 2008:18484607}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71798550del" "" "pathogenic" "" "0000376681" "0" "11" "10" "73437169" "73437169" "subst" "0" "02416" "CDH23_000106" "g.73437169T>G" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71677412T>G" "" "benign" "" "0000376682" "10" "11" "10" "73269779" "73269779" "subst" "0" "02416" "CDH23_000107" "g.73269779C>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "" "" "homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000376683" "10" "11" "10" "73269779" "73269779" "subst" "0" "02416" "CDH23_000107" "g.73269779C>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "" "" "homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000376684" "20" "11" "10" "73269779" "73269779" "subst" "0" "02416" "CDH23_000107" "g.73269779C>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "" "" "homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000376685" "20" "11" "10" "73269779" "73269779" "subst" "0" "02416" "CDH23_000107" "g.73269779C>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "" "" "homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000376686" "10" "11" "10" "73269779" "73269779" "subst" "0" "02416" "CDH23_000107" "g.73269779C>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000376687" "20" "11" "10" "73269779" "73269779" "subst" "0" "02416" "CDH23_000107" "g.73269779C>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000376688" "10" "11" "10" "73269779" "73269779" "subst" "0" "02416" "CDH23_000107" "g.73269779C>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000376689" "20" "11" "10" "73269779" "73269779" "subst" "0" "02416" "CDH23_000107" "g.73269779C>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000376690" "10" "11" "10" "73269779" "73269779" "subst" "0" "02416" "CDH23_000107" "g.73269779C>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000376691" "20" "11" "10" "73269779" "73269779" "subst" "0" "02416" "CDH23_000107" "g.73269779C>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000376696" "2" "99" "10" "73553022" "73553022" "subst" "1.62594E-5" "02416" "CDH23_000108" "g.73553022C>T" "0/192 controls" "{PMID:Oshima 2008:18429043}" "" "" "heterozygous" "Germline" "" "rs771210121" "0" "" "" "g.71793265C>T" "" "pathogenic" "" "0000376697" "10" "99" "10" "73553022" "73553022" "subst" "1.62594E-5" "02428" "CDH23_000108" "g.73553022C>T" "" "Abdi accepted in Plos One" "" "" "homozygous" "Germline" "" "rs771210121" "0" "" "" "g.71793265C>T" "" "pathogenic" "" "0000376698" "20" "99" "10" "73553022" "73553022" "subst" "1.62594E-5" "02428" "CDH23_000108" "g.73553022C>T" "" "Abdi accepted in Plos One" "" "" "homozygous" "Germline" "" "rs771210121" "0" "" "" "g.71793265C>T" "" "pathogenic" "" "0000376699" "10" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376700" "10" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376701" "1" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376702" "1" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376703" "0" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376704" "1" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376705" "1" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376706" "0" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376707" "2" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376708" "0" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376709" "10" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376710" "10" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376711" "20" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376712" "20" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376713" "20" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376714" "20" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376715" "1" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376716" "10" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376717" "10" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376718" "20" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376719" "20" "99" "10" "73270759" "73270759" "subst" "6.90417E-5" "02416" "CDH23_000109" "g.73270759G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "pathogenic" "" "0000376720" "10" "75" "10" "73558940" "73558940" "subst" "0" "02416" "CDH23_000110" "g.73558940A>T" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23D2376V:} USMA-{MSV3dQ9H251p.Asp2376Val:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71799183A>T" "" "VUS" "ACMG" "0000376721" "20" "75" "10" "73558940" "73558940" "subst" "0" "02416" "CDH23_000110" "g.73558940A>T" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23D2376V:} USMA-{MSV3dQ9H251p.Asp2376Val:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71799183A>T" "" "VUS" "ACMG" "0000376722" "2" "35" "10" "73453990" "73453990" "subst" "0.00218662" "02416" "CDH23_000111" "g.73453990C>T" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23H755Y:} USMA-{MSV3dQ9H251p.His755Tyr:}" "-PhoI;-Sau96I;-HaeIII;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694233C>T" "" "likely benign" "ACMG" "0000376723" "0" "35" "10" "73453990" "73453990" "subst" "0.00218662" "02416" "CDH23_000111" "g.73453990C>T" "0/306 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMACDH23H755Y:} USMA-{MSV3dQ9H251p.His755Tyr:}" "-PhoI;-Sau96I;-HaeIII;" "" "heterozygous; Presumably pathogenic" "Germline" "" "" "0" "" "" "g.71694233C>T" "" "likely benign" "ACMG" "0000376724" "21" "35" "10" "73453990" "73453990" "subst" "0.00218662" "02419" "CDH23_000111" "g.73453990C>T" "1/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23H755Y:} USMA-{MSV3dQ9H251p.His755Tyr:}" "-PhoI;-Sau96I;-HaeIII;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71694233C>T" "" "likely benign" "ACMG" "0000376725" "2" "35" "10" "73453990" "73453990" "subst" "0.00218662" "02428" "CDH23_000111" "g.73453990C>T" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23H755Y:} USMA-{MSV3dQ9H251p.his755Tyr:}" "" "" "heterozygous; mutation" "Germline" "" "rs181255269" "0" "" "" "g.71694233C>T" "" "likely benign" "ACMG" "0000376726" "1" "75" "10" "73562761" "73562761" "subst" "0" "02416" "CDH23_000112" "g.73562761C>T" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23T2530I:} USMA-{MSV3dQ9H251p.Thr2530Ile:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71803004C>T" "" "VUS" "ACMG" "0000376727" "2" "75" "10" "73545463" "73545463" "subst" "0" "02416" "CDH23_000113" "g.73545463G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23D1930N:} USMA-{MSV3dQ9H251p.Asp1930Asn:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71785706G>A" "" "VUS" "ACMG" "0000376728" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02416" "CDH23_000114" "g.73454017G>A" "" "{PMID:Astuto 2002:12075507}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376729" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02416" "CDH23_000114" "g.73454017G>A" "" "{PMID:Astuto 2002:12075507}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376730" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02416" "CDH23_000114" "g.73454017G>A" "" "{PMID:Astuto 2002:12075507}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376731" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02416" "CDH23_000114" "g.73454017G>A" "" "{PMID:Astuto 2002:12075507}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376732" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02416" "CDH23_000114" "g.73454017G>A" "" "{PMID:Astuto 2002:12075507}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376733" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02416" "CDH23_000114" "g.73454017G>A" "" "{PMID:Astuto 2002:12075507}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376734" "0" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02416" "CDH23_000114" "g.73454017G>A" "" "{PMID:Pennings 2004:15353998}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376735" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02416" "CDH23_000114" "g.73454017G>A" "" "{PMID:Pennings 2004:15353998}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376736" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02416" "CDH23_000114" "g.73454017G>A" "" "{PMID:Pennings 2006:16652077}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376737" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02416" "CDH23_000114" "g.73454017G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376738" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02417" "CDH23_000114" "g.73454017G>A" "" "{PMID:Jaijo 2010:19683999}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376739" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02417" "CDH23_000114" "g.73454017G>A" "" "{PMID:Jaijo 2010:19683999}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376740" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02417" "CDH23_000114" "g.73454017G>A" "" "{PMID:Jaijo 2010:19683999}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376741" "0" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02417" "CDH23_000114" "g.73454017G>A" "" "{PMID:Jaijo 2010:19683999}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376742" "10" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02417" "CDH23_000114" "g.73454017G>A" "" "{PMID:Jaijo 2010:19683999}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376743" "20" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02417" "CDH23_000114" "g.73454017G>A" "" "{PMID:Jaijo 2010:19683999}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376744" "0" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02417" "CDH23_000114" "g.73454017G>A" "" "{PMID:Aparisi 2013:23451239}" "+FatI;+NlaIII;+CviAII;-HpyCH4III;" "Pathogenic - was shown in the article to affect splicing (p.(Asn765serfs*35))" "heterozygous; New donor site" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376745" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02428" "CDH23_000114" "g.73454017G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376746" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02428" "CDH23_000114" "g.73454017G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376747" "1" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02428" "CDH23_000114" "g.73454017G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376748" "0" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02428" "CDH23_000114" "g.73454017G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376749" "2" "99" "10" "73454017" "73454017" "subst" "2.06201E-5" "02428" "CDH23_000114" "g.73454017G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71694260G>A" "" "pathogenic" "" "0000376752" "2" "99" "10" "73553078" "73553078" "del" "0" "02416" "CDH23_000115" "g.73553078del" "0/192 controls" "{PMID:Oshima 2008:18429043}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71793321del" "" "pathogenic" "" "0000376753" "1" "99" "10" "73553031" "73553032" "del" "0" "02416" "CDH23_000116" "g.73553031_73553032del" "0/192 controls" "{PMID:Oshima 2008:18429043}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71793274_71793275del" "" "pathogenic" "" "0000376754" "2" "99" "10" "73553031" "73553032" "del" "0" "02417" "CDH23_000116" "g.73553031_73553032del" "" "{PMID:Jaijo 2010:19683999}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71793274_71793275del" "" "pathogenic" "" "0000376755" "1" "75" "10" "73545409" "73545409" "subst" "2.61033E-5" "02416" "CDH23_000117" "g.73545409C>T" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23R1912W:} USMA-{MSV3dQ9H251p.Arg1912Trp:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71785652C>T" "" "VUS" "ACMG" "0000376756" "0" "75" "10" "73569757" "73569757" "subst" "8.19632E-6" "02416" "CDH23_000118" "g.73569757T>C" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23V2968A:} USMA-{MSV3dQ9H251p.Val2968Ala:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71810000T>C" "" "VUS" "ACMG" "0000376757" "2" "99" "10" "73567765" "73567765" "del" "0" "02416" "CDH23_000119" "g.73567765del" "0/192 controls" "{PMID:Oshima 2008:18429043}" "" "Pathogenic - was shown in Aparisi et al., 2013 to affect splicing p.(Ser2909Alafs*43))" "heterozygous; Deletion of 1 nt" "Germline" "" "" "0" "" "" "g.71808008del" "" "pathogenic" "" "0000376758" "10" "99" "10" "73567765" "73567765" "del" "0" "02416" "CDH23_000119" "g.73567765del" "" "{PMID:Aparisi 2014:25404053}" "" "Pathogenic - was shown in Aparisi et al., 2013 to affect splicing p.(Ser2909Alafs*43))" "homozygous" "Germline" "" "" "0" "" "" "g.71808008del" "" "pathogenic" "" "0000376759" "20" "99" "10" "73567765" "73567765" "del" "0" "02416" "CDH23_000119" "g.73567765del" "" "{PMID:Aparisi 2014:25404053}" "" "Pathogenic - was shown in Aparisi et al., 2013 to affect splicing p.(Ser2909Alafs*43))" "homozygous" "Germline" "" "" "0" "" "" "g.71808008del" "" "pathogenic" "" "0000376760" "1" "99" "10" "73553196" "73553196" "del" "0" "02416" "CDH23_000120" "g.73553196del" "0/192 controls" "{PMID:Oshima 2008:18429043}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71793439del" "" "pathogenic" "" "0000376761" "0" "75" "10" "73539199" "73539199" "subst" "0.000120318" "02416" "CDH23_000121" "g.73539199C>T" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23P1788L:} USMA-{MSV3dQ9H251p.Pro1788Leu:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71779442C>T" "" "VUS" "ACMG" "0000376762" "0" "75" "10" "73567275" "73567275" "subst" "0.00038389" "02416" "CDH23_000122" "g.73567275G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23G2771S:} USMA-{MSV3dQ9H251p.Gly2771Ser:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71807518G>A" "" "VUS" "ACMG" "0000376763" "10" "75" "10" "73472469" "73472469" "subst" "2.44292E-5" "02416" "CDH23_000123" "g.73472469G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23V1090I:} USMA-{MSV3dQ9H251p.Val1090Ile:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71712712G>A" "" "VUS" "ACMG" "0000376764" "20" "75" "10" "73472469" "73472469" "subst" "2.44292E-5" "02416" "CDH23_000123" "g.73472469G>A" "0/192 controls" "{PMID:Oshima 2008:18429043}; USMA-{USMACDH23V1090I:} USMA-{MSV3dQ9H251p.Val1090Ile:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71712712G>A" "" "VUS" "ACMG" "0000376765" "10" "75" "10" "73550924" "73550924" "subst" "2.8865E-5" "02416" "CDH23_000124" "g.73550924C>T" "0/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R2029W:} USMA-{MSV3dQ9H251p.Arg2029Trp:}" "" "" "homozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71791167C>T" "" "VUS" "ACMG" "0000376766" "2" "75" "10" "73550924" "73550924" "subst" "2.8865E-5" "02416" "CDH23_000124" "g.73550924C>T" "0/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R2029W:} USMA-{MSV3dQ9H251p.Arg2029Trp:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71791167C>T" "" "VUS" "ACMG" "0000376767" "20" "75" "10" "73550924" "73550924" "subst" "2.8865E-5" "02416" "CDH23_000124" "g.73550924C>T" "0/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R2029W:} USMA-{MSV3dQ9H251p.Arg2029Trp:}" "" "" "homozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71791167C>T" "" "VUS" "ACMG" "0000376768" "10" "75" "10" "73550924" "73550924" "subst" "2.8865E-5" "02416" "CDH23_000124" "g.73550924C>T" "0/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23R2029W:} USMA-{MSV3dQ9H251p.Arg2029Trp:}" "" "" "homozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71791167C>T" "" "VUS" "ACMG" "0000376769" "20" "75" "10" "73550924" "73550924" "subst" "2.8865E-5" "02416" "CDH23_000124" "g.73550924C>T" "0/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23R2029W:} USMA-{MSV3dQ9H251p.Arg2029Trp:}" "" "" "homozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71791167C>T" "" "VUS" "ACMG" "0000376770" "1" "75" "10" "73375330" "73375330" "subst" "8.12427E-6" "02416" "CDH23_000125" "g.73375330G>A" "0/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R301Q:} USMA-{MSV3dQ9H251p.Arg301Gln:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908355" "0" "" "" "g.71615573G>A" "" "VUS" "ACMG" "0000376771" "1" "75" "10" "73375330" "73375330" "subst" "8.12427E-6" "02416" "CDH23_000125" "g.73375330G>A" "0/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R301Q:} USMA-{MSV3dQ9H251p.Arg301Gln:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908355" "0" "" "" "g.71615573G>A" "" "VUS" "ACMG" "0000376772" "1" "75" "10" "73375330" "73375330" "subst" "8.12427E-6" "02416" "CDH23_000125" "g.73375330G>A" "0/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R301Q:} USMA-{MSV3dQ9H251p.Arg301Gln:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908355" "0" "" "" "g.71615573G>A" "" "VUS" "ACMG" "0000376773" "2" "75" "10" "73375330" "73375330" "subst" "8.12427E-6" "02416" "CDH23_000125" "g.73375330G>A" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23R301Q:} USMA-{MSV3dQ9H251p.Arg301Gln:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908355" "0" "" "" "g.71615573G>A" "" "VUS" "ACMG" "0000376774" "0" "75" "10" "73375330" "73375330" "subst" "8.12427E-6" "02416" "CDH23_000125" "g.73375330G>A" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23R301Q:} USMA-{MSV3dQ9H251p.Arg301Gln:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908355" "0" "" "" "g.71615573G>A" "" "VUS" "ACMG" "0000376775" "2" "75" "10" "73375330" "73375330" "subst" "8.12427E-6" "02416" "CDH23_000125" "g.73375330G>A" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23R301Q:} USMA-{MSV3dQ9H251p.Arg301Gln:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908355" "0" "" "" "g.71615573G>A" "" "VUS" "ACMG" "0000376776" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376777" "10" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376778" "2" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376779" "2" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376780" "2" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376781" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376782" "20" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376783" "10" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376784" "10" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376785" "10" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376786" "10" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376787" "10" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376788" "10" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376789" "10" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376790" "10" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376791" "10" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376792" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376793" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376794" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376795" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376796" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376797" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376798" "20" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376799" "20" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376800" "20" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376801" "20" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376802" "20" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376803" "20" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376804" "20" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376805" "20" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376806" "20" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "homozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376807" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376808" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376809" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376810" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "" "{PMID:Mutai 2013:24164807}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; causative" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376811" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "" "{PMID:Mutai 2013:24164807}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; causative" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376812" "1" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "" "{PMID:Mutai 2013:24164807}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; causative" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376813" "11" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "" "{PMID:Woo 2014:24767429}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; mutation" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376814" "11" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "" "{PMID:Woo 2014:24767429}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; mutation" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376815" "11" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02416" "CDH23_000126" "g.73330641C>T" "1/292 controls" "{PMID:Woo 2014:24767429}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "" "" "heterozygous; mutation" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376816" "21" "75" "10" "73330641" "73330641" "subst" "4.06171E-5" "02425" "CDH23_000126" "g.73330641C>T" "" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23P240L:} USMA-{MSV3dQ9H251p.Pro240Leu:}" "hmutai" "" "heterozygous" "Germline" "" "rs121908354" "0" "" "" "g.71570884C>T" "" "VUS" "ACMG" "0000376817" "2" "75" "10" "73538025" "73538025" "subst" "0" "02416" "CDH23_000127" "g.73538025A>C" "0/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23Q1716P:} USMA-{MSV3dQ9H251p.Gln1716Pro:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71778268A>C" "" "VUS" "ACMG" "0000376818" "2" "75" "10" "73538025" "73538025" "subst" "0" "02416" "CDH23_000127" "g.73538025A>C" "0/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23Q1716P:} USMA-{MSV3dQ9H251p.Gln1716Pro:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71778268A>C" "" "VUS" "ACMG" "0000376819" "2" "75" "10" "73538025" "73538025" "subst" "0" "02416" "CDH23_000127" "g.73538025A>C" "0/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23Q1716P:} USMA-{MSV3dQ9H251p.Gln1716Pro:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71778268A>C" "" "VUS" "ACMG" "0000376820" "1" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "heterozygous" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376821" "10" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "0/400 controls" "{PMID:de Brouwer 2003:12522556}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "homozygous" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376822" "10" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "0/400 controls" "{PMID:de Brouwer 2003:12522556}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "homozygous" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376823" "1" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "0/400 controls" "{PMID:de Brouwer 2003:12522556}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "heterozygous" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376824" "1" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "0/400 controls" "{PMID:de Brouwer 2003:12522556}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "heterozygous" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376825" "20" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "0/400 controls" "{PMID:de Brouwer 2003:12522556}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "homozygous" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376826" "20" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "0/400 controls" "{PMID:de Brouwer 2003:12522556}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "homozygous" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376827" "10" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "" "{PMID:Pennings 2004:15353998}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "homozygous" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376828" "1" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "" "{PMID:Pennings 2004:15353998}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "heterozygous" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376829" "1" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "" "{PMID:Pennings 2004:15353998}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "heterozygous" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376830" "20" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "" "{PMID:Pennings 2004:15353998}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "homozygous" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376831" "11" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "heterozygous; Mutation" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376832" "11" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02416" "CDH23_000128" "g.73553127G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "-BsiEI" "" "heterozygous; Mutation" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376833" "2" "99" "10" "73553127" "73553127" "subst" "8.93815E-5" "02428" "CDH23_000128" "g.73553127G>A" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23D2148N:} USMA-{MSV3dQ9H251p.Asp2148Asn:}" "" "" "heterozygous; mutation" "Germline" "" "rs111033271" "0" "" "" "g.71793370G>A" "" "pathogenic" "" "0000376834" "2" "99" "10" "73492049" "73492049" "subst" "0" "02416" "CDH23_000129" "g.73492049G>A" "0/400 controls" "{PMID:de Brouwer 2003:12522556}; USMA-{USMACDH23D1341N:} USMA-{MSV3dQ9H251p.Asp1341Asn:}" "" "" "heterozygous" "Germline" "" "rs121908351" "0" "" "" "g.71732292G>A" "" "pathogenic" "" "0000376835" "2" "99" "10" "73492049" "73492049" "subst" "0" "02416" "CDH23_000129" "g.73492049G>A" "0/400 controls" "{PMID:de Brouwer 2003:12522556}; USMA-{USMACDH23D1341N:} USMA-{MSV3dQ9H251p.Asp1341Asn:}" "" "" "heterozygous" "Germline" "" "rs121908351" "0" "" "" "g.71732292G>A" "" "pathogenic" "" "0000376836" "2" "99" "10" "73492049" "73492049" "subst" "0" "02416" "CDH23_000129" "g.73492049G>A" "" "{PMID:Pennings 2004:15353998}; USMA-{USMACDH23D1341N:} USMA-{MSV3dQ9H251p.Asp1341Asn:}" "" "" "heterozygous" "Germline" "" "rs121908351" "0" "" "" "g.71732292G>A" "" "pathogenic" "" "0000376837" "2" "99" "10" "73492049" "73492049" "subst" "0" "02416" "CDH23_000129" "g.73492049G>A" "" "{PMID:Pennings 2004:15353998}; USMA-{USMACDH23D1341N:} USMA-{MSV3dQ9H251p.Asp1341Asn:}" "" "" "heterozygous" "Germline" "" "rs121908351" "0" "" "" "g.71732292G>A" "" "pathogenic" "" "0000376838" "1" "99" "10" "73492049" "73492049" "subst" "0" "02417" "CDH23_000129" "g.73492049G>A" "" "{PMID:Jaijo 2010:19683999}; USMA-{USMACDH23D1341N:} USMA-{MSV3dQ9H251p.Asp1341Asn:}" "" "" "heterozygous" "Germline" "" "rs121908351" "0" "" "" "g.71732292G>A" "" "pathogenic" "" "0000376839" "0" "99" "10" "73492049" "73492049" "subst" "0" "02416" "CDH23_000129" "g.73492049G>A" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMACDH23D1341N:} USMA-{MSV3dQ9H251p.Asp1341Asn:}" "" "" "heterozygous" "Germline" "" "rs121908351" "0" "" "" "g.71732292G>A" "" "pathogenic" "" "0000376840" "0" "99" "10" "73434869" "73434869" "subst" "0" "02416" "CDH23_000130" "g.73434869G>C" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23A484P:} USMA-{MSV3dQ9H251p.Ala484Pro:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71675112G>C" "" "pathogenic" "" "0000376841" "10" "99" "10" "73434869" "73434869" "subst" "0" "02416" "CDH23_000130" "g.73434869G>C" "" "{PMID:Pennings 2004:15353998}; USMA-{USMACDH23A484P:} USMA-{MSV3dQ9H251p.Ala484Pro:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71675112G>C" "" "pathogenic" "" "0000376842" "10" "99" "10" "73434869" "73434869" "subst" "0" "02416" "CDH23_000130" "g.73434869G>C" "" "{PMID:Pennings 2004:15353998}; USMA-{USMACDH23A484P:} USMA-{MSV3dQ9H251p.Ala484Pro:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71675112G>C" "" "pathogenic" "" "0000376843" "20" "99" "10" "73434869" "73434869" "subst" "0" "02416" "CDH23_000130" "g.73434869G>C" "" "{PMID:Pennings 2004:15353998}; USMA-{USMACDH23A484P:} USMA-{MSV3dQ9H251p.Ala484Pro:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71675112G>C" "" "pathogenic" "" "0000376844" "20" "99" "10" "73434869" "73434869" "subst" "0" "02416" "CDH23_000130" "g.73434869G>C" "" "{PMID:Pennings 2004:15353998}; USMA-{USMACDH23A484P:} USMA-{MSV3dQ9H251p.Ala484Pro:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71675112G>C" "" "pathogenic" "" "0000376845" "1" "99" "10" "73553078" "73553078" "del" "0" "02417" "CDH23_000131" "g.73553078del" "" "{PMID:Jaijo 2010:19683999}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71793321del" "" "pathogenic" "" "0000376846" "10" "99" "10" "73553078" "73553078" "del" "0" "02417" "CDH23_000131" "g.73553078del" "" "{PMID:Jaijo 2010:19683999}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793321del" "" "pathogenic" "" "0000376847" "1" "99" "10" "73553078" "73553078" "del" "0" "02417" "CDH23_000131" "g.73553078del" "" "{PMID:Jaijo 2010:19683999}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71793321del" "" "pathogenic" "" "0000376848" "20" "99" "10" "73553078" "73553078" "del" "0" "02417" "CDH23_000131" "g.73553078del" "" "{PMID:Jaijo 2010:19683999}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793321del" "" "pathogenic" "" "0000376849" "2" "75" "10" "73563128" "73563128" "subst" "0.000670587" "02416" "CDH23_000132" "g.73563128G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R2608H:} USMA-{MSV3dQ9H251p.Arg2608His:}" "-AciI" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71803371G>A" "" "VUS" "ACMG" "0000376850" "2" "75" "10" "73563128" "73563128" "subst" "0.000670587" "02417" "CDH23_000132" "g.73563128G>A" "" "{PMID:Jaijo 2010:19683999}; USMA-{USMACDH23R2608H:} USMA-{MSV3dQ9H251p.Arg2608His:}" "-AciI" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71803371G>A" "" "VUS" "ACMG" "0000376851" "0" "75" "10" "73563128" "73563128" "subst" "0.000670587" "02416" "CDH23_000132" "g.73563128G>A" "" "{PMID:Malm 2010:21174530}; USMA-{USMACDH23R2608H:} USMA-{MSV3dQ9H251p.Arg2608His:}" "-AciI" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71803371G>A" "" "VUS" "ACMG" "0000376852" "10" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "0/78 controls" "{PMID:Bork 2001:11090341}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376853" "10" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "0/78 controls" "{PMID:Bork 2001:11090341}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376854" "10" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "0/78 controls" "{PMID:Bork 2001:11090341}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376855" "10" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "0/78 controls" "{PMID:Bork 2001:11090341}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376856" "20" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "0/78 controls" "{PMID:Bork 2001:11090341}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376857" "20" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "0/78 controls" "{PMID:Bork 2001:11090341}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376858" "20" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "0/78 controls" "{PMID:Bork 2001:11090341}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376859" "20" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "0/78 controls" "{PMID:Bork 2001:11090341}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376860" "10" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "0/200 controls" "{PMID:Ouyang 2005:15660226}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376861" "20" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "0/200 controls" "{PMID:Ouyang 2005:15660226}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376862" "0" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "0/64 controls" "{PMID:Nakanishi 2010:20844544}" "none" "" "homozygous; probable pathogenic" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376863" "10" "99" "10" "73553004" "73553004" "subst" "0" "02419" "CDH23_000133" "g.73553004C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376864" "11" "99" "10" "73553004" "73553004" "subst" "0" "02419" "CDH23_000133" "g.73553004C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376865" "20" "99" "10" "73553004" "73553004" "subst" "0" "02419" "CDH23_000133" "g.73553004C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376866" "10" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "" "{PMID:Yoshimura 2014:24618850}" "none" "" "homozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376867" "20" "99" "10" "73553004" "73553004" "subst" "0" "02416" "CDH23_000133" "g.73553004C>T" "" "{PMID:Yoshimura 2014:24618850}" "none" "" "homozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.71793247C>T" "" "pathogenic" "" "0000376868" "10" "99" "10" "73491908" "73491908" "subst" "0" "02416" "CDH23_000134" "g.73491908C>T" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "rs121908350" "0" "" "" "g.71732151C>T" "" "pathogenic" "" "0000376869" "10" "99" "10" "73491908" "73491908" "subst" "0" "02416" "CDH23_000134" "g.73491908C>T" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "rs121908350" "0" "" "" "g.71732151C>T" "" "pathogenic" "" "0000376870" "20" "99" "10" "73491908" "73491908" "subst" "0" "02416" "CDH23_000134" "g.73491908C>T" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "rs121908350" "0" "" "" "g.71732151C>T" "" "pathogenic" "" "0000376871" "20" "99" "10" "73491908" "73491908" "subst" "0" "02416" "CDH23_000134" "g.73491908C>T" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "rs121908350" "0" "" "" "g.71732151C>T" "" "pathogenic" "" "0000376872" "10" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "0/78 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376873" "10" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "0/78 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376874" "10" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "0/78 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376875" "20" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "0/78 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376876" "20" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "0/78 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376877" "20" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "0/78 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376878" "10" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous; Mutation" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376879" "10" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous; Mutation" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376880" "10" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous; Mutation" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376881" "10" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous; Mutation" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376882" "20" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous; Mutation" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376883" "20" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous; Mutation" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376884" "20" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous; Mutation" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376885" "20" "99" "10" "73553289" "73553289" "subst" "4.06868E-6" "02416" "CDH23_000135" "g.73553289G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2202N:} USMA-{MSV3dQ9H251p.Asp2202Asn:}" "none" "" "homozygous; Mutation" "Germline" "" "rs121908349" "0" "" "" "g.71793532G>A" "" "pathogenic" "" "0000376886" "10" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376887" "10" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376888" "10" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376889" "10" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376890" "10" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376891" "10" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376892" "10" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376893" "20" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376894" "20" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376895" "20" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376896" "20" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376897" "20" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376898" "20" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376899" "20" "99" "10" "73572367" "73572367" "subst" "4.06597E-6" "02416" "CDH23_000136" "g.73572367G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71812610G>A" "" "pathogenic" "" "0000376900" "10" "99" "10" "73550171" "73550171" "subst" "0" "02416" "CDH23_000137" "g.73550171G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "rs111033247" "0" "" "" "g.71790414G>A" "" "pathogenic" "" "0000376901" "10" "99" "10" "73550171" "73550171" "subst" "0" "02416" "CDH23_000137" "g.73550171G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "rs111033247" "0" "" "" "g.71790414G>A" "" "pathogenic" "" "0000376902" "10" "99" "10" "73550171" "73550171" "subst" "0" "02416" "CDH23_000137" "g.73550171G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "rs111033247" "0" "" "" "g.71790414G>A" "" "pathogenic" "" "0000376903" "10" "99" "10" "73550171" "73550171" "subst" "0" "02416" "CDH23_000137" "g.73550171G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "rs111033247" "0" "" "" "g.71790414G>A" "" "pathogenic" "" "0000376904" "20" "99" "10" "73550171" "73550171" "subst" "0" "02416" "CDH23_000137" "g.73550171G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "rs111033247" "0" "" "" "g.71790414G>A" "" "pathogenic" "" "0000376905" "20" "99" "10" "73550171" "73550171" "subst" "0" "02416" "CDH23_000137" "g.73550171G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "rs111033247" "0" "" "" "g.71790414G>A" "" "pathogenic" "" "0000376906" "20" "99" "10" "73550171" "73550171" "subst" "0" "02416" "CDH23_000137" "g.73550171G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "rs111033247" "0" "" "" "g.71790414G>A" "" "pathogenic" "" "0000376907" "20" "99" "10" "73550171" "73550171" "subst" "0" "02416" "CDH23_000137" "g.73550171G>A" "0/96 controls" "{PMID:Bork 2001:11090341}" "" "" "homozygous" "Germline" "" "rs111033247" "0" "" "" "g.71790414G>A" "" "pathogenic" "" "0000376908" "10" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "0/158 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376909" "10" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "0/158 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376910" "10" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "0/158 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376911" "10" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "0/158 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376912" "10" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "0/158 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376913" "20" "99" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "0/158 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376914" "20" "99" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "0/158 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376915" "20" "99" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "0/158 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376916" "20" "99" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "0/158 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376917" "20" "99" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "0/158 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376918" "10" "95" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous; Mutation" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376919" "10" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous; Mutation" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376920" "10" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous; Mutation" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376921" "10" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous; Mutation" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376922" "10" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous; Mutation" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376923" "10" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous; Mutation" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376924" "20" "95" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous; Mutation" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376925" "20" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous; Mutation" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376926" "20" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous; Mutation" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376927" "20" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous; Mutation" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376928" "20" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous; Mutation" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376929" "20" "75" "10" "73550972" "73550972" "subst" "0" "02416" "CDH23_000138" "g.73550972G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2045N:} USMA-{MSV3dQ9H251p.Asp2045Asn:}" "-MnlI;-BbvCI;-Bpu10I;" "" "homozygous; Mutation" "Germline" "" "rs121908348" "0" "" "" "g.71791215G>A" "" "VUS" "ACMG" "0000376930" "10" "99" "10" "73571169" "73571169" "subst" "2.03254E-5" "02416" "CDH23_000139" "g.73571169C>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23P3059T:} USMA-{MSV3dQ9H251p.Pro3059Thr:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71811412C>A" "" "pathogenic" "" "0000376931" "10" "99" "10" "73571169" "73571169" "subst" "2.03254E-5" "02416" "CDH23_000139" "g.73571169C>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23P3059T:} USMA-{MSV3dQ9H251p.Pro3059Thr:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71811412C>A" "" "pathogenic" "" "0000376932" "10" "99" "10" "73571169" "73571169" "subst" "2.03254E-5" "02416" "CDH23_000139" "g.73571169C>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23P3059T:} USMA-{MSV3dQ9H251p.Pro3059Thr:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71811412C>A" "" "pathogenic" "" "0000376933" "10" "99" "10" "73571169" "73571169" "subst" "2.03254E-5" "02416" "CDH23_000139" "g.73571169C>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23P3059T:} USMA-{MSV3dQ9H251p.Pro3059Thr:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71811412C>A" "" "pathogenic" "" "0000376934" "20" "99" "10" "73571169" "73571169" "subst" "2.03254E-5" "02416" "CDH23_000139" "g.73571169C>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23P3059T:} USMA-{MSV3dQ9H251p.Pro3059Thr:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71811412C>A" "" "pathogenic" "" "0000376935" "20" "99" "10" "73571169" "73571169" "subst" "2.03254E-5" "02416" "CDH23_000139" "g.73571169C>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23P3059T:} USMA-{MSV3dQ9H251p.Pro3059Thr:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71811412C>A" "" "pathogenic" "" "0000376936" "20" "99" "10" "73571169" "73571169" "subst" "2.03254E-5" "02416" "CDH23_000139" "g.73571169C>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23P3059T:} USMA-{MSV3dQ9H251p.Pro3059Thr:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71811412C>A" "" "pathogenic" "" "0000376937" "20" "99" "10" "73571169" "73571169" "subst" "2.03254E-5" "02416" "CDH23_000139" "g.73571169C>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23P3059T:} USMA-{MSV3dQ9H251p.Pro3059Thr:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71811412C>A" "" "pathogenic" "" "0000376938" "10" "99" "10" "73569720" "73569720" "subst" "1.63792E-5" "02416" "CDH23_000140" "g.73569720C>T" "0/48 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23R2956C:} USMA-{MSV3dQ9H251p.Arg2956Cys:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809963C>T" "" "pathogenic" "" "0000376939" "10" "99" "10" "73569720" "73569720" "subst" "1.63792E-5" "02416" "CDH23_000140" "g.73569720C>T" "0/48 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23R2956C:} USMA-{MSV3dQ9H251p.Arg2956Cys:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809963C>T" "" "pathogenic" "" "0000376940" "10" "99" "10" "73569720" "73569720" "subst" "1.63792E-5" "02416" "CDH23_000140" "g.73569720C>T" "0/48 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23R2956C:} USMA-{MSV3dQ9H251p.Arg2956Cys:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809963C>T" "" "pathogenic" "" "0000376941" "10" "99" "10" "73569720" "73569720" "subst" "1.63792E-5" "02416" "CDH23_000140" "g.73569720C>T" "0/48 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23R2956C:} USMA-{MSV3dQ9H251p.Arg2956Cys:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809963C>T" "" "pathogenic" "" "0000376942" "10" "99" "10" "73569720" "73569720" "subst" "1.63792E-5" "02416" "CDH23_000140" "g.73569720C>T" "0/48 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23R2956C:} USMA-{MSV3dQ9H251p.Arg2956Cys:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809963C>T" "" "pathogenic" "" "0000376943" "20" "99" "10" "73569720" "73569720" "subst" "1.63792E-5" "02416" "CDH23_000140" "g.73569720C>T" "0/48 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23R2956C:} USMA-{MSV3dQ9H251p.Arg2956Cys:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809963C>T" "" "pathogenic" "" "0000376944" "20" "99" "10" "73569720" "73569720" "subst" "1.63792E-5" "02416" "CDH23_000140" "g.73569720C>T" "0/48 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23R2956C:} USMA-{MSV3dQ9H251p.Arg2956Cys:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809963C>T" "" "pathogenic" "" "0000376945" "20" "99" "10" "73569720" "73569720" "subst" "1.63792E-5" "02416" "CDH23_000140" "g.73569720C>T" "0/48 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23R2956C:} USMA-{MSV3dQ9H251p.Arg2956Cys:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809963C>T" "" "pathogenic" "" "0000376946" "20" "99" "10" "73569720" "73569720" "subst" "1.63792E-5" "02416" "CDH23_000140" "g.73569720C>T" "0/48 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23R2956C:} USMA-{MSV3dQ9H251p.Arg2956Cys:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809963C>T" "" "pathogenic" "" "0000376947" "20" "99" "10" "73569720" "73569720" "subst" "1.63792E-5" "02416" "CDH23_000140" "g.73569720C>T" "0/48 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23R2956C:} USMA-{MSV3dQ9H251p.Arg2956Cys:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809963C>T" "" "pathogenic" "" "0000376948" "10" "99" "10" "73569703" "73569703" "subst" "4.0856E-6" "02416" "CDH23_000141" "g.73569703T>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23I2950N:} USMA-{MSV3dQ9H251p.Ile2950Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809946T>A" "" "pathogenic" "" "0000376949" "20" "99" "10" "73569703" "73569703" "subst" "4.0856E-6" "02416" "CDH23_000141" "g.73569703T>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23I2950N:} USMA-{MSV3dQ9H251p.Ile2950Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809946T>A" "" "pathogenic" "" "0000376950" "10" "99" "10" "73569703" "73569703" "subst" "4.0856E-6" "02416" "CDH23_000141" "g.73569703T>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23I2950N:} USMA-{MSV3dQ9H251p.Ile2950Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809946T>A" "" "pathogenic" "" "0000376951" "20" "99" "10" "73569703" "73569703" "subst" "4.0856E-6" "02416" "CDH23_000141" "g.73569703T>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23I2950N:} USMA-{MSV3dQ9H251p.Ile2950Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809946T>A" "" "pathogenic" "" "0000376952" "10" "99" "10" "73569703" "73569703" "subst" "4.0856E-6" "02416" "CDH23_000141" "g.73569703T>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23I2950N:} USMA-{MSV3dQ9H251p.Ile2950Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809946T>A" "" "pathogenic" "" "0000376953" "20" "99" "10" "73569703" "73569703" "subst" "4.0856E-6" "02416" "CDH23_000141" "g.73569703T>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23I2950N:} USMA-{MSV3dQ9H251p.Ile2950Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809946T>A" "" "pathogenic" "" "0000376954" "10" "99" "10" "73569703" "73569703" "subst" "4.0856E-6" "02416" "CDH23_000141" "g.73569703T>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23I2950N:} USMA-{MSV3dQ9H251p.Ile2950Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809946T>A" "" "pathogenic" "" "0000376955" "20" "99" "10" "73569703" "73569703" "subst" "4.0856E-6" "02416" "CDH23_000141" "g.73569703T>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23I2950N:} USMA-{MSV3dQ9H251p.Ile2950Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809946T>A" "" "pathogenic" "" "0000376956" "10" "99" "10" "73569703" "73569703" "subst" "4.0856E-6" "02416" "CDH23_000141" "g.73569703T>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23I2950N:} USMA-{MSV3dQ9H251p.Ile2950Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809946T>A" "" "pathogenic" "" "0000376957" "20" "99" "10" "73569703" "73569703" "subst" "4.0856E-6" "02416" "CDH23_000141" "g.73569703T>A" "0/96 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23I2950N:} USMA-{MSV3dQ9H251p.Ile2950Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71809946T>A" "" "pathogenic" "" "0000376958" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "0/126 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376959" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "0/126 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376960" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "0/126 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376961" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "0/126 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376962" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "0/126 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376963" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "0/126 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376964" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "0/126 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376965" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "0/126 controls" "{PMID:Bork 2001:11090341}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376966" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376967" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376968" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376969" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376970" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376971" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376972" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376973" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376974" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376975" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376976" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376977" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376978" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376979" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376980" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376981" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376982" "10" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376983" "20" "99" "10" "73466668" "73466668" "subst" "0" "02416" "CDH23_000142" "g.73466668G>A" "" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23D990N:} USMA-{MSV3dQ9H251p.Asp990Asn:}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic" "" "0000376984" "10" "75" "10" "73501589" "73501589" "subst" "4.17446E-6" "02416" "CDH23_000143" "g.73501589G>C" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23A1586P:} USMA-{MSV3dQ9H251p.Ala1586Pro:}" "+AlwI;+BstYI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71741832G>C" "" "VUS" "ACMG" "0000376985" "20" "99" "10" "73501589" "73501589" "subst" "4.17446E-6" "02416" "CDH23_000143" "g.73501589G>C" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23A1586P:} USMA-{MSV3dQ9H251p.Ala1586Pro:}" "+AlwI;+BstYI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71741832G>C" "" "VUS" "ACMG" "0000376986" "10" "75" "10" "73501589" "73501589" "subst" "4.17446E-6" "02416" "CDH23_000143" "g.73501589G>C" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A1586P:} USMA-{MSV3dQ9H251p.Ala1586Pro:}" "+AlwI;+BstYI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741832G>C" "" "VUS" "ACMG" "0000376987" "10" "75" "10" "73501589" "73501589" "subst" "4.17446E-6" "02416" "CDH23_000143" "g.73501589G>C" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A1586P:} USMA-{MSV3dQ9H251p.Ala1586Pro:}" "+AlwI;+BstYI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741832G>C" "" "VUS" "ACMG" "0000376988" "20" "75" "10" "73501589" "73501589" "subst" "4.17446E-6" "02416" "CDH23_000143" "g.73501589G>C" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A1586P:} USMA-{MSV3dQ9H251p.Ala1586Pro:}" "+AlwI;+BstYI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741832G>C" "" "VUS" "ACMG" "0000376989" "20" "75" "10" "73501589" "73501589" "subst" "4.17446E-6" "02416" "CDH23_000143" "g.73501589G>C" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A1586P:} USMA-{MSV3dQ9H251p.Ala1586Pro:}" "+AlwI;+BstYI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741832G>C" "" "VUS" "ACMG" "0000376990" "1" "99" "10" "73558249" "73558249" "del" "0" "02416" "CDH23_000144" "g.73558249del" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71798492del" "" "pathogenic" "" "0000376991" "1" "99" "10" "73567085" "73567085" "subst" "4.07223E-5" "02416" "CDH23_000145" "g.73567085G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23G2744S:} USMA-{MSV3dQ9H251p.Gly2744Ser:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71807328G>A" "" "pathogenic" "" "0000376992" "1" "99" "10" "73567085" "73567085" "subst" "4.07223E-5" "02416" "CDH23_000145" "g.73567085G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23G2744S:} USMA-{MSV3dQ9H251p.Gly2744Ser:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71807328G>A" "" "pathogenic" "" "0000376993" "0" "99" "10" "73562721" "73562721" "subst" "2.03051E-5" "02416" "CDH23_000146" "g.73562721A>G" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23S2517G:} USMA-{MSV3dQ9H251p.Ser2517Gly:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71802964A>G" "" "pathogenic" "" "0000376994" "1" "99" "10" "73490263" "73490263" "subst" "0" "02416" "CDH23_000147" "g.73490263C>G" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23P1206R:} USMA-{MSV3dQ9H251p.Pro1206Arg:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71730506C>G" "" "pathogenic" "" "0000376995" "1" "99" "10" "73490263" "73490263" "subst" "0" "02416" "CDH23_000147" "g.73490263C>G" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23P1206R:} USMA-{MSV3dQ9H251p.Pro1206Arg:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71730506C>G" "" "pathogenic" "" "0000376996" "1" "99" "10" "73550994" "73550994" "del" "0" "02416" "CDH23_000148" "g.73550994del" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71791237del" "" "pathogenic" "" "0000376997" "1" "99" "10" "73550994" "73550994" "del" "0" "02416" "CDH23_000148" "g.73550994del" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71791237del" "" "pathogenic" "" "0000376998" "10" "99" "10" "73500594" "73500594" "subst" "2.43867E-5" "02416" "CDH23_000149" "g.73500594C>T" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71740837C>T" "" "pathogenic" "" "0000376999" "10" "99" "10" "73500594" "73500594" "subst" "2.43867E-5" "02416" "CDH23_000149" "g.73500594C>T" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71740837C>T" "" "pathogenic" "" "0000377000" "0" "99" "10" "73500594" "73500594" "subst" "2.43867E-5" "02416" "CDH23_000149" "g.73500594C>T" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71740837C>T" "" "pathogenic" "" "0000377001" "20" "99" "10" "73500594" "73500594" "subst" "2.43867E-5" "02416" "CDH23_000149" "g.73500594C>T" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71740837C>T" "" "pathogenic" "" "0000377002" "20" "99" "10" "73500594" "73500594" "subst" "2.43867E-5" "02416" "CDH23_000149" "g.73500594C>T" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71740837C>T" "" "pathogenic" "" "0000377003" "2" "99" "10" "73500594" "73500594" "subst" "2.43867E-5" "02416" "CDH23_000149" "g.73500594C>T" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71740837C>T" "" "pathogenic" "" "0000377004" "2" "99" "10" "73500594" "73500594" "subst" "2.43867E-5" "02416" "CDH23_000149" "g.73500594C>T" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71740837C>T" "" "pathogenic" "" "0000377005" "2" "99" "10" "73500594" "73500594" "subst" "2.43867E-5" "02416" "CDH23_000149" "g.73500594C>T" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71740837C>T" "" "pathogenic" "" "0000377006" "2" "99" "10" "73500594" "73500594" "subst" "2.43867E-5" "02416" "CDH23_000149" "g.73500594C>T" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71740837C>T" "" "pathogenic" "" "0000377007" "1" "90" "10" "73500594" "73500594" "subst" "2.43867E-5" "02430" "CDH23_000149" "g.73500594C>T" "" "{PMID:Ivanova 2018:30358468}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377008" "1" "99" "10" "73437443" "73437443" "subst" "3.12793E-5" "02416" "CDH23_000150" "g.73437443G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R582Q:} USMA-{MSV3dQ9H251p.Arg582Gln:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71677686G>A" "" "pathogenic" "" "0000377009" "1" "99" "10" "73437443" "73437443" "subst" "3.12793E-5" "02416" "CDH23_000150" "g.73437443G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R582Q:} USMA-{MSV3dQ9H251p.Arg582Gln:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71677686G>A" "" "pathogenic" "" "0000377010" "1" "99" "10" "73269865" "73269865" "subst" "4.06111E-6" "02416" "CDH23_000151" "g.73269865C>T" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71510108C>T" "" "pathogenic" "" "0000377011" "1" "99" "10" "73501616" "73501616" "subst" "2.10261E-5" "02416" "CDH23_000152" "g.73501616G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23E1595K:} USMA-{MSV3dQ9H251p.Glu1595Lys:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71741859G>A" "" "pathogenic" "" "0000377012" "1" "99" "10" "73501616" "73501616" "subst" "2.10261E-5" "02416" "CDH23_000152" "g.73501616G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23E1595K:} USMA-{MSV3dQ9H251p.Glu1595Lys:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71741859G>A" "" "pathogenic" "" "0000377013" "0" "99" "10" "73501616" "73501616" "subst" "2.10261E-5" "02416" "CDH23_000152" "g.73501616G>A" "" "{PMID:Woo 2014:24767429}; USMA-{USMACDH23E1595K:} USMA-{MSV3dQ9H251p.Glu1595Lys:}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71741859G>A" "" "pathogenic" "" "0000377014" "2" "99" "10" "73270911" "73270911" "subst" "4.06121E-6" "02416" "CDH23_000153" "g.73270911A>G" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23D124G:} USMA-{MSV3dQ9H251p.Asp124Gly:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511154A>G" "" "pathogenic" "" "0000377015" "2" "99" "10" "73270911" "73270911" "subst" "4.06121E-6" "02416" "CDH23_000153" "g.73270911A>G" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23D124G:} USMA-{MSV3dQ9H251p.Asp124Gly:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71511154A>G" "" "pathogenic" "" "0000377016" "1" "99" "10" "73560423" "73560423" "subst" "8.12269E-6" "02416" "CDH23_000154" "g.73560423C>T" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R2465W:} USMA-{MSV3dQ9H251p.Arg2465Trp:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71800666C>T" "" "pathogenic" "" "0000377017" "1" "99" "10" "73560423" "73560423" "subst" "8.12269E-6" "02416" "CDH23_000154" "g.73560423C>T" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R2465W:} USMA-{MSV3dQ9H251p.Arg2465Trp:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71800666C>T" "" "pathogenic" "" "0000377018" "2" "99" "10" "73466805" "73466805" "subst" "0" "02416" "CDH23_000155" "g.73466805A>T" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71707048A>T" "" "pathogenic" "" "0000377019" "2" "99" "10" "73466805" "73466805" "subst" "0" "02416" "CDH23_000155" "g.73466805A>T" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71707048A>T" "" "pathogenic" "" "0000377020" "2" "99" "10" "0" "0" "" "0" "02416" "CDH23_000156" "g.?" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377021" "2" "99" "10" "0" "0" "" "0" "02416" "CDH23_000156" "g.?" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377022" "1" "99" "10" "73269886" "73269886" "del" "0" "02416" "CDH23_000157" "g.73269886del" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71510129del" "" "pathogenic" "" "0000377023" "1" "99" "10" "73269886" "73269886" "del" "0" "02416" "CDH23_000157" "g.73269886del" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71510129del" "" "pathogenic" "" "0000377024" "11" "99" "10" "73269886" "73269886" "del" "0" "02416" "CDH23_000157" "g.73269886del" "0/200 controls" "{PMID:Zheng 2005:15537665}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71510129del" "" "pathogenic" "" "0000377025" "0" "99" "10" "73269886" "73269886" "del" "0" "02416" "CDH23_000157" "g.73269886del" "0/200 controls" "{PMID:Ouyang 2005:15660226}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71510129del" "" "pathogenic" "" "0000377026" "0" "99" "10" "73269886" "73269886" "del" "0" "02416" "CDH23_000157" "g.73269886del" "0/200 controls" "{PMID:Ouyang 2005:15660226}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71510129del" "" "pathogenic" "" "0000377027" "0" "99" "10" "73269886" "73269886" "del" "0" "02416" "CDH23_000157" "g.73269886del" "0/200 controls" "{PMID:Ouyang 2005:15660226}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71510129del" "" "pathogenic" "" "0000377028" "0" "99" "10" "73269886" "73269886" "del" "0" "02416" "CDH23_000157" "g.73269886del" "0/200 controls" "{PMID:Ouyang 2005:15660226}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71510129del" "" "pathogenic" "" "0000377029" "0" "99" "10" "73269886" "73269886" "del" "0" "02416" "CDH23_000157" "g.73269886del" "0/200 controls" "{PMID:Ouyang 2005:15660226}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71510129del" "" "pathogenic" "" "0000377030" "2" "99" "10" "73485255" "73485255" "subst" "0" "02416" "CDH23_000158" "g.73485255G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23G1186D:} USMA-{MSV3dQ9H251p.Gly1186Asp:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71725498G>A" "" "pathogenic" "" "0000377031" "1" "99" "10" "73406364" "73406364" "subst" "0" "02416" "CDH23_000159" "g.73406364T>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23L480Q:} USMA-{MSV3dQ9H251p.Leu480Gln:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71646607T>A" "" "pathogenic" "" "0000377032" "10" "99" "10" "73377103" "73377103" "del" "0" "02416" "CDH23_000160" "g.73377103del" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71617346del" "" "pathogenic" "" "0000377033" "20" "99" "10" "73377103" "73377103" "del" "0" "02416" "CDH23_000160" "g.73377103del" "" "{PMID:Astuto 2002:12075507}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71617346del" "" "pathogenic" "" "0000377034" "0" "35" "10" "73572538" "73572538" "subst" "0.000278494" "02416" "CDH23_000161" "g.73572538G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R3175H:} USMA-{MSV3dQ9H251p.Arg3175His:}" "+FatI;+NlaIII;+CviAII;" "" "heterozygous" "Germline" "" "rs140884994" "0" "" "" "g.71812781G>A" "" "likely benign" "ACMG" "0000377035" "0" "35" "10" "73572538" "73572538" "subst" "0.000278494" "02419" "CDH23_000161" "g.73572538G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R3175H:} USMA-{MSV3dQ9H251p.Arg3175His:}" "+FatI;+NlaIII;+CviAII;" "" "heterozygous; UV1" "Germline" "" "rs140884994" "0" "" "" "g.71812781G>A" "" "likely benign" "ACMG" "0000377036" "2" "99" "10" "73544681" "73544681" "subst" "1.21826E-5" "02416" "CDH23_000162" "g.73544681G>A" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23D1846N:} USMA-{MSV3dQ9H251p.Asp1846Asn:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71784924G>A" "" "pathogenic" "" "0000377037" "1" "99" "10" "73406280" "73406280" "subst" "4.06105E-6" "02416" "CDH23_000163" "g.73406280A>G" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23N452S:} USMA-{MSV3dQ9H251p.Asn452Ser:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71646523A>G" "" "pathogenic" "" "0000377038" "1" "35" "10" "73468926" "73468926" "subst" "0.000483944" "02416" "CDH23_000164" "g.73468926C>T" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R1060W:} USMA-{MSV3dQ9H251p.Arg1060Trp:}" "+BsrI;+BmrI;-BssKI;-NciI;-StyD4I;-MspI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71709169C>T" "" "likely benign" "ACMG" "0000377039" "0" "35" "10" "73468926" "73468926" "subst" "0.000483944" "02416" "CDH23_000164" "g.73468926C>T" "" "{PMID:Kimberling 2010:20613545}; USMA-{USMACDH23R1060W:} USMA-{MSV3dQ9H251p.Arg1060Trp:}" "+BsrI;+BmrI;-BssKI;-NciI;-StyD4I;-MspI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71709169C>T" "" "likely benign" "ACMG" "0000377040" "11" "35" "10" "73468926" "73468926" "subst" "0.000483944" "02416" "CDH23_000164" "g.73468926C>T" "0/626 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMACDH23R1060W:} USMA-{MSV3dQ9H251p.Arg1060Trp:}" "+BsrI;+BmrI;-BssKI;-NciI;-StyD4I;-MspI;" "" "heterozygous; Presumably pathogenic" "Germline" "" "" "0" "" "" "g.71709169C>T" "" "likely benign" "ACMG" "0000377041" "0" "35" "10" "73468926" "73468926" "subst" "0.000483944" "02416" "CDH23_000164" "g.73468926C>T" "" "{PMID:Vozzi 2011:21738395}; USMA-{USMACDH23R1060W:} USMA-{MSV3dQ9H251p.Arg1060Trp:}" "+BsrI;+BmrI;-BssKI;-NciI;-StyD4I;-MspI;" "" "heterozygous; non pathogenic" "Germline" "" "" "0" "" "" "g.71709169C>T" "" "likely benign" "ACMG" "0000377042" "0" "35" "10" "73468926" "73468926" "subst" "0.000483944" "02416" "CDH23_000164" "g.73468926C>T" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMACDH23R1060W:} USMA-{MSV3dQ9H251p.Arg1060Trp:}" "+BsrI;+BmrI;-BssKI;-NciI;-StyD4I;-MspI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71709169C>T" "" "likely benign" "ACMG" "0000377043" "1" "99" "10" "73377128" "73377128" "del" "0" "02416" "CDH23_000165" "g.73377128del" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71617371del" "" "pathogenic" "" "0000377044" "1" "99" "10" "73377128" "73377128" "del" "0" "02416" "CDH23_000165" "g.73377128del" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71617371del" "" "pathogenic" "" "0000377045" "1" "99" "10" "73377128" "73377128" "del" "0" "02416" "CDH23_000165" "g.73377128del" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71617371del" "" "pathogenic" "" "0000377046" "1" "99" "10" "73377128" "73377128" "del" "0" "02416" "CDH23_000165" "g.73377128del" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71617371del" "" "pathogenic" "" "0000377047" "1" "99" "10" "73572640" "73572640" "dup" "0" "02416" "CDH23_000166" "g.73572640dup" "" "{PMID:Astuto 2002:12075507}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71812883dup" "" "pathogenic" "" "0000377048" "1" "99" "10" "73567461" "73567461" "subst" "4.12426E-6" "02416" "CDH23_000167" "g.73567461C>G" "" "{PMID:Astuto 2002:12075507}; USMA-{USMACDH23R2833G:} USMA-{MSV3dQ9H251p.Arg2833Gly:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71807704C>G" "" "pathogenic" "" "0000377049" "10" "99" "10" "73500610" "73500610" "subst" "6.90653E-5" "02416" "CDH23_000168" "g.73500610G>A" "0/200 controls" "{PMID:Ouyang 2005:15660226}; USMA-{USMACDH23R1507Q:} USMA-{MSV3dQ9H251p.Arg1507Gln:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71740853G>A" "" "pathogenic" "" "0000377050" "20" "99" "10" "73500610" "73500610" "subst" "6.90653E-5" "02416" "CDH23_000168" "g.73500610G>A" "0/200 controls" "{PMID:Ouyang 2005:15660226}; USMA-{USMACDH23R1507Q:} USMA-{MSV3dQ9H251p.Arg1507Gln:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71740853G>A" "" "pathogenic" "" "0000377051" "0" "75" "10" "73572579" "73572579" "subst" "1.63296E-5" "02416" "CDH23_000169" "g.73572579C>T" "0/200 controls" "{PMID:Zheng 2005:15537665}; USMA-{USMACDH23R3189W:} USMA-{MSV3dQ9H251p.Arg3189Trp:}" "" "" "heterozygous" "Germline" "" "rs121908353" "0" "" "" "g.71812822C>T" "" "VUS" "ACMG" "0000377052" "0" "75" "10" "73572579" "73572579" "subst" "1.63296E-5" "02416" "CDH23_000169" "g.73572579C>T" "0/200 controls" "{PMID:Ouyang 2005:15660226}; USMA-{USMACDH23R3189W:} USMA-{MSV3dQ9H251p.Arg3189Trp:}" "" "" "heterozygous" "Germline" "" "rs121908353" "0" "" "" "g.71812822C>T" "" "VUS" "ACMG" "0000377053" "0" "75" "10" "73573101" "73573101" "subst" "0" "02416" "CDH23_000170" "g.73573101C>T" "0/200 controls" "{PMID:Ouyang 2005:15660226}; USMA-{USMACDH23S3245F:} USMA-{MSV3dQ9H251p.Ser3245Phe:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71813344C>T" "" "VUS" "ACMG" "0000377054" "0" "75" "10" "73573101" "73573101" "subst" "0" "02416" "CDH23_000170" "g.73573101C>T" "0/200 controls" "{PMID:Ouyang 2005:15660226}; USMA-{USMACDH23S3245F:} USMA-{MSV3dQ9H251p.Ser3245Phe:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71813344C>T" "" "VUS" "ACMG" "0000377055" "2" "99" "10" "73556858" "73556860" "del" "0" "02416" "CDH23_000171" "g.73556858_73556860del" "0/200 controls" "{PMID:Ouyang 2005:15660226}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71797101_71797103del" "" "pathogenic" "" "0000377056" "1" "99" "10" "73553076" "73553076" "dup" "0" "02416" "CDH23_000172" "g.73553076dup" "0/200 controls" "{PMID:Ouyang 2005:15660226}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71793319dup" "" "pathogenic" "" "0000377057" "0" "95" "10" "73337707" "73337707" "subst" "0" "02416" "CDH23_000173" "g.73337707G>T" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23D264Y:} USMA-{MSV3dQ9H251p.Asp264Tyr:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71577950G>T" "" "likely pathogenic" "ACMG" "0000377058" "0" "99" "10" "73565744" "73565745" "del" "0" "02416" "CDH23_000174" "g.73565744_73565745del" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71805987_71805988del" "" "pathogenic" "" "0000377059" "21" "99" "10" "73565744" "73565745" "del" "0" "02416" "CDH23_000174" "g.73565744_73565745del" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71805987_71805988del" "" "pathogenic" "" "0000377060" "21" "99" "10" "73565744" "73565745" "del" "0" "02416" "CDH23_000174" "g.73565744_73565745del" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71805987_71805988del" "" "pathogenic" "" "0000377061" "0" "99" "10" "73565744" "73565745" "del" "0" "02416" "CDH23_000174" "g.73565744_73565745del" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71805987_71805988del" "" "pathogenic" "" "0000377062" "0" "11" "10" "73558388" "73558388" "subst" "0" "02416" "CDH23_000175" "g.73558388T>G" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71798631T>G" "" "benign" "" "0000377063" "0" "15" "10" "73571582" "73571583" "ins" "0" "02416" "CDH23_000176" "g.73571582_73571583insTC" "" "{PMID:Roux 2011:21436283}" "+MnlI;+MwoI;-BstXI;" "" "heterozygous" "Germline" "" "rs59718926" "0" "" "" "g.71811825_71811826insTC" "" "likely benign" "ACMG" "0000377064" "10" "15" "10" "73571582" "73571583" "ins" "0" "02416" "CDH23_000176" "g.73571582_73571583insTC" "" "{PMID:Roux 2011:21436283}" "+MnlI;+MwoI;-BstXI;" "" "homozygous" "Germline" "" "rs59718926" "0" "" "" "g.71811825_71811826insTC" "" "likely benign" "ACMG" "0000377065" "0" "15" "10" "73571582" "73571583" "ins" "0" "02416" "CDH23_000176" "g.73571582_73571583insTC" "" "{PMID:Roux 2011:21436283}" "+MnlI;+MwoI;-BstXI;" "" "heterozygous" "Germline" "" "rs59718926" "0" "" "" "g.71811825_71811826insTC" "" "likely benign" "ACMG" "0000377066" "20" "11" "10" "73571582" "73571583" "ins" "0" "02416" "CDH23_000176" "g.73571582_73571583insTC" "" "{PMID:Roux 2011:21436283}" "+MnlI;+MwoI;-BstXI;" "" "homozygous" "Germline" "" "rs59718926" "0" "" "" "g.71811825_71811826insTC" "" "likely benign" "ACMG" "0000377067" "0" "15" "10" "73571582" "73571583" "ins" "0" "02417" "CDH23_000176" "g.73571582_73571583insTC" "" "{PMID:Aparis 2013:23451239}" "+MnlI;+MwoI;-BstXI;" "" "heterozygous" "Germline" "" "rs59718926" "0" "" "" "g.71811825_71811826insTC" "" "likely benign" "ACMG" "0000377068" "10" "15" "10" "73571582" "73571583" "ins" "0" "02416" "CDH23_000176" "g.73571582_73571583insTC" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI;+MwoI;-BstXI;" "" "homozygous" "Germline" "" "rs59718926" "0" "" "" "g.71811825_71811826insTC" "" "likely benign" "ACMG" "0000377069" "20" "15" "10" "73571582" "73571583" "ins" "0" "02416" "CDH23_000176" "g.73571582_73571583insTC" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MnlI;+MwoI;-BstXI;" "" "homozygous" "Germline" "" "rs59718926" "0" "" "" "g.71811825_71811826insTC" "" "likely benign" "ACMG" "0000377080" "10" "75" "10" "73548745" "73548745" "subst" "0" "02416" "CDH23_000180" "g.73548745C>T" "0/120 controls" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23P1957S:} USMA-{MSV3dQ9H251p.Pro1957Ser:}" "+BsaXI" "" "homozygous" "Germline" "" "" "0" "" "" "g.71788988C>T" "" "VUS" "ACMG" "0000377081" "10" "75" "10" "73548745" "73548745" "subst" "0" "02416" "CDH23_000180" "g.73548745C>T" "0/120 controls" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23P1957S:} USMA-{MSV3dQ9H251p.Pro1957Ser:}" "+BsaXI" "" "homozygous" "Germline" "" "" "0" "" "" "g.71788988C>T" "" "VUS" "ACMG" "0000377082" "20" "75" "10" "73548745" "73548745" "subst" "0" "02416" "CDH23_000180" "g.73548745C>T" "0/120 controls" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23P1957S:} USMA-{MSV3dQ9H251p.Pro1957Ser:}" "+BsaXI" "" "homozygous" "Germline" "" "" "0" "" "" "g.71788988C>T" "" "VUS" "ACMG" "0000377083" "20" "75" "10" "73548745" "73548745" "subst" "0" "02416" "CDH23_000180" "g.73548745C>T" "0/120 controls" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23P1957S:} USMA-{MSV3dQ9H251p.Pro1957Ser:}" "+BsaXI" "" "homozygous" "Germline" "" "" "0" "" "" "g.71788988C>T" "" "VUS" "ACMG" "0000377089" "10" "11" "10" "73490310" "73490310" "subst" "0.0210478" "02419" "CDH23_000183" "g.73490310G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23A1222T:} USMA-{MSV3dQ9H251p.Ala1222Thr:}" "+CspCI;-AciI;-Cac8I;" "" "homozygous; UV1" "Germline" "" "rs41281316" "0" "" "" "g.71730553G>A" "" "benign" "" "0000377090" "20" "11" "10" "73490310" "73490310" "subst" "0.0210478" "02419" "CDH23_000183" "g.73490310G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23A1222T:} USMA-{MSV3dQ9H251p.Ala1222Thr:}" "+CspCI;-AciI;-Cac8I;" "" "homozygous; UV1" "Germline" "" "rs41281316" "0" "" "" "g.71730553G>A" "" "benign" "" "0000377092" "10" "99" "10" "73571161" "73571161" "del" "0" "02416" "CDH23_000185" "g.73571161del" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71811404del" "" "pathogenic" "" "0000377093" "20" "99" "10" "73571161" "73571161" "del" "0" "02416" "CDH23_000185" "g.73571161del" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71811404del" "" "pathogenic" "" "0000377094" "11" "99" "10" "73571161" "73571161" "del" "0" "02416" "CDH23_000185" "g.73571161del" "" "{PMID:Lenarduzzi 2015:25575603}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71811404del" "" "pathogenic" "" "0000377095" "11" "99" "10" "73571161" "73571161" "del" "0" "02416" "CDH23_000185" "g.73571161del" "" "{PMID:Lenarduzzi 2015:25575603}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71811404del" "" "pathogenic" "" "0000377096" "21" "99" "10" "73571161" "73571161" "del" "0" "02416" "CDH23_000185" "g.73571161del" "" "{PMID:Lenarduzzi 2015:25575603}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71811404del" "" "pathogenic" "" "0000377097" "21" "99" "10" "73571161" "73571161" "del" "0" "02416" "CDH23_000185" "g.73571161del" "" "{PMID:Lenarduzzi 2015:25575603}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71811404del" "" "pathogenic" "" "0000377098" "10" "11" "10" "73538896" "73538896" "subst" "0" "02416" "CDH23_000186" "g.73538896T>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "+FokI;+BtsCI;" "" "homozygous" "Germline" "" "rs6480555" "0" "" "" "g.71779139T>A" "" "benign" "" "0000377099" "20" "11" "10" "73538896" "73538896" "subst" "0" "02416" "CDH23_000186" "g.73538896T>A" "" "{PMID:Ammar-Khodja 2009:19375528}" "+FokI;+BtsCI;" "" "homozygous" "Germline" "" "rs6480555" "0" "" "" "g.71779139T>A" "" "benign" "" "0000377100" "10" "11" "10" "73538896" "73538896" "subst" "0" "02416" "CDH23_000186" "g.73538896T>A" "" "{PMID:Roux 2011:21436283}" "+FokI;+BtsCI;" "" "homozygous" "Germline" "" "rs6480555" "0" "" "" "g.71779139T>A" "" "benign" "" "0000377101" "20" "11" "10" "73538896" "73538896" "subst" "0" "02416" "CDH23_000186" "g.73538896T>A" "" "{PMID:Roux 2011:21436283}" "+FokI;+BtsCI;" "" "homozygous" "Germline" "" "rs6480555" "0" "" "" "g.71779139T>A" "" "benign" "" "0000377104" "10" "11" "10" "73403490" "73403490" "subst" "0" "02416" "CDH23_000187" "g.73403490A>G" "" "{PMID:Ammar-Khodja 2009:19375528}" "+Sau96I;+AvaII;-DpnII;-BfuCI;" "" "homozygous" "Germline" "" "rs10823810" "0" "" "" "g.71643733A>G" "" "benign" "" "0000377105" "20" "11" "10" "73403490" "73403490" "subst" "0" "02416" "CDH23_000187" "g.73403490A>G" "" "{PMID:Ammar-Khodja 2009:19375528}" "+Sau96I;+AvaII;-DpnII;-BfuCI;" "" "homozygous" "Germline" "" "rs10823810" "0" "" "" "g.71643733A>G" "" "benign" "" "0000377106" "10" "11" "10" "73403490" "73403490" "subst" "0" "02416" "CDH23_000187" "g.73403490A>G" "" "{PMID:Roux 2011:21436283}" "+Sau96I;+AvaII;-DpnII;-BfuCI;" "" "homozygous" "Germline" "" "rs10823810" "0" "" "" "g.71643733A>G" "" "benign" "" "0000377107" "20" "11" "10" "73403490" "73403490" "subst" "0" "02416" "CDH23_000187" "g.73403490A>G" "" "{PMID:Roux 2011:21436283}" "+Sau96I;+AvaII;-DpnII;-BfuCI;" "" "homozygous" "Germline" "" "rs10823810" "0" "" "" "g.71643733A>G" "" "benign" "" "0000377108" "0" "11" "10" "73403490" "73403490" "subst" "0" "02417" "CDH23_000187" "g.73403490A>G" "" "{PMID:Aparis 2013:23451239}" "+Sau96I;+AvaII;-DpnII;-BfuCI;" "" "heterozygous" "Germline" "" "rs10823810" "0" "" "" "g.71643733A>G" "" "benign" "" "0000377111" "10" "35" "10" "73462309" "73462309" "subst" "0" "02416" "CDH23_000188" "g.73462309G>A" "0/120 controls" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23G864D:} USMA-{MSV3dQ9H251p.Gly864Asp:}" "+Tsp45I;+HphI;+Cac8I;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71702552G>A" "" "likely benign" "ACMG" "0000377112" "20" "35" "10" "73462309" "73462309" "subst" "0" "02416" "CDH23_000188" "g.73462309G>A" "0/120 controls" "{PMID:Ammar-Khodja 2009:19375528}; USMA-{USMACDH23G864D:} USMA-{MSV3dQ9H251p.Gly864Asp:}" "+Tsp45I;+HphI;+Cac8I;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71702552G>A" "" "likely benign" "ACMG" "0000377113" "10" "35" "10" "73544830" "73544830" "subst" "8.13312E-6" "02416" "CDH23_000189" "g.73544830C>T" "0/120 controls" "{PMID:Ammar-Khodja 2009:19375528}" "+HpyCH4III;-BstUI;-AciI;" "" "homozygous; No effect on splicing (Le Guédard-Méreuze , 2010)" "Germline" "" "" "0" "" "" "g.71785073C>T" "" "likely benign" "ACMG" "0000377114" "20" "35" "10" "73544830" "73544830" "subst" "8.13312E-6" "02416" "CDH23_000189" "g.73544830C>T" "0/120 controls" "{PMID:Ammar-Khodja 2009:19375528}" "+HpyCH4III;-BstUI;-AciI;" "" "homozygous; No effect on splicing (Le Guédard-Méreuze , 2010)" "Germline" "" "" "0" "" "" "g.71785073C>T" "" "likely benign" "ACMG" "0000377115" "0" "99" "10" "73501592" "73501599" "del" "0" "02416" "CDH23_000190" "g.73501592_73501599del" "" "{PMID:Roux 2011:21436283}" "-CviKI_1;-BceAI;-HaeIII;-PhoI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71741835_71741842del" "" "pathogenic" "" "0000377116" "2" "99" "10" "73501592" "73501599" "del" "0" "02428" "CDH23_000190" "g.73501592_73501599del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71741835_71741842del" "" "pathogenic" "" "0000377117" "0" "15" "10" "73548876" "73548876" "subst" "0" "02416" "CDH23_000191" "g.73548876T>C" "" "{PMID:Roux 2011:21436283}" "+CviAII;+NlaIII;+FatI;+MnlI;" "" "heterozygous" "Germline" "" "rs112854062" "0" "" "" "g.71789119T>C" "" "likely benign" "ACMG" "0000377118" "10" "15" "10" "73548876" "73548876" "subst" "0" "02419" "CDH23_000191" "g.73548876T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+CviAII;+NlaIII;+FatI;+MnlI;" "" "homozygous; UV1" "Germline" "" "rs112854062" "0" "" "" "g.71789119T>C" "" "likely benign" "ACMG" "0000377119" "20" "15" "10" "73548876" "73548876" "subst" "0" "02419" "CDH23_000191" "g.73548876T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+CviAII;+NlaIII;+FatI;+MnlI;" "" "homozygous; UV1" "Germline" "" "rs112854062" "0" "" "" "g.71789119T>C" "" "likely benign" "ACMG" "0000377120" "0" "15" "10" "73562765" "73562765" "subst" "0" "02416" "CDH23_000192" "g.73562765G>C" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23M2531I:} USMA-{MSV3dQ9H251p.Met2531Ile:}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71803008G>C" "" "likely benign" "ACMG" "0000377121" "0" "15" "10" "73569475" "73569475" "subst" "0" "02416" "CDH23_000193" "g.73569475G>A" "" "{PMID:Roux 2011:21436283}" "-AciI;-Fnu4HI;" "" "heterozygous" "Germline" "" "rs57717338" "0" "" "" "g.71809718G>A" "" "likely benign" "ACMG" "0000377122" "0" "11" "10" "73571883" "73571883" "subst" "0" "02416" "CDH23_000194" "g.73571883C>T" "" "{PMID:Roux 2011:21436283}" "+BaeGI;+Bsp1286I;-NarI;-HinP1I;-HhaI;-KasI;" "" "heterozygous" "Germline" "" "rs11000015" "0" "" "" "g.71812126C>T" "" "benign" "" "0000377123" "10" "11" "10" "73571883" "73571883" "subst" "0" "02416" "CDH23_000194" "g.73571883C>T" "" "{PMID:Roux 2011:21436283}" "+BaeGI;+Bsp1286I;-NarI;-HinP1I;-HhaI;-KasI;" "" "homozygous" "Germline" "" "rs11000015" "0" "" "" "g.71812126C>T" "" "benign" "" "0000377124" "20" "11" "10" "73571883" "73571883" "subst" "0" "02416" "CDH23_000194" "g.73571883C>T" "" "{PMID:Roux 2011:21436283}" "+BaeGI;+Bsp1286I;-NarI;-HinP1I;-HhaI;-KasI;" "" "homozygous" "Germline" "" "rs11000015" "0" "" "" "g.71812126C>T" "" "benign" "" "0000377125" "0" "11" "10" "73406127" "73406127" "subst" "0" "02416" "CDH23_000195" "g.73406127C>T" "" "{PMID:Roux 2011:21436283}" "-Sau96I;-NaeI;-NlaIV;-MspI;-HpaII;-HaeIII;" "" "heterozygous" "Germline" "" "rs76800802" "0" "" "" "g.71646370C>T" "" "benign" "" "0000377126" "21" "11" "10" "73492097" "73492097" "subst" "0" "02416" "CDH23_000196" "g.73492097C>T" "" "{PMID:Roux 2011:21436283}" "+BfaI;+AvrII;+StyI;-PspGI;-BssKI;-ScrFI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71732340C>T" "" "pathogenic" "" "0000377127" "0" "15" "10" "73558128" "73558128" "subst" "0.0552239" "02416" "CDH23_000197" "g.73558128G>A" "3/280 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23V2283I:} USMA-{MSV3dQ9H251p.Val2283Ile:}" "+BtsCI;+FokI;-HpyCH4IV;" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "rs41281334" "0" "" "" "g.71798371G>A" "" "likely benign" "ACMG" "0000377128" "0" "15" "10" "73558128" "73558128" "subst" "0.0552239" "02416" "CDH23_000197" "g.73558128G>A" "3/280 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23V2283I:} USMA-{MSV3dQ9H251p.Val2283Ile:}" "+BtsCI;+FokI;-HpyCH4IV;" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "rs41281334" "0" "" "" "g.71798371G>A" "" "likely benign" "ACMG" "0000377129" "0" "15" "10" "73558128" "73558128" "subst" "0.0552239" "02416" "CDH23_000197" "g.73558128G>A" "3/280 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23V2283I:} USMA-{MSV3dQ9H251p.Val2283Ile:}" "+BtsCI;+FokI;-HpyCH4IV;" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "rs41281334" "0" "" "" "g.71798371G>A" "" "likely benign" "ACMG" "0000377130" "10" "15" "10" "73558128" "73558128" "subst" "0.0552239" "02416" "CDH23_000197" "g.73558128G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23V2283I:} USMA-{MSV3dQ9H251p.Val2283Ile:}" "+BtsCI;+FokI;-HpyCH4IV;" "" "homozygous" "Germline" "" "rs41281334" "0" "" "" "g.71798371G>A" "" "likely benign" "ACMG" "0000377131" "20" "15" "10" "73558128" "73558128" "subst" "0.0552239" "02416" "CDH23_000197" "g.73558128G>A" "" "{PMID:Roux 2011:21436283}; USMA-{USMACDH23V2283I:} USMA-{MSV3dQ9H251p.Val2283Ile:}" "+BtsCI;+FokI;-HpyCH4IV;" "" "homozygous" "Germline" "" "rs41281334" "0" "" "" "g.71798371G>A" "" "likely benign" "ACMG" "0000377132" "0" "15" "10" "73558128" "73558128" "subst" "0.0552239" "02416" "CDH23_000197" "g.73558128G>A" "3/128 controls" "{PMID:Woo 2014:24767429}; USMA-{USMACDH23V2283I:} USMA-{MSV3dQ9H251p.Val2283Ile:}" "+BtsCI;+FokI;-HpyCH4IV;" "" "heterozygous; considered non-causative" "Germline" "" "rs41281334" "0" "" "" "g.71798371G>A" "" "likely benign" "ACMG" "0000377133" "10" "11" "10" "73571881" "73571881" "subst" "0" "02416" "CDH23_000198" "g.73571881G>A" "" "{PMID:Roux 2011:21436283}" "-NlaIV;-PflMI;-KasI;-NarI;-BslI;-BsaHI;" "" "homozygous" "Germline" "" "rs11000014" "0" "" "" "g.71812124G>A" "" "benign" "" "0000377134" "20" "11" "10" "73571881" "73571881" "subst" "0" "02416" "CDH23_000198" "g.73571881G>A" "" "{PMID:Roux 2011:21436283}" "-NlaIV;-PflMI;-KasI;-NarI;-BslI;-BsaHI;" "" "homozygous" "Germline" "" "rs11000014" "0" "" "" "g.71812124G>A" "" "benign" "" "0000377135" "0" "99" "10" "73472442" "73472442" "subst" "0" "02416" "CDH23_000199" "g.73472442C>T" "" "{PMID:Kimberling 2010:20613545}" "+Tsp45I" "3256C>T - p.Arg1086*" "heterozygous" "Germline" "" "" "0" "" "" "g.71712685C>T" "" "pathogenic" "" "0000377136" "0" "35" "10" "73544093" "73544093" "subst" "0.0138948" "02416" "CDH23_000200" "g.73544093C>G" "" "{PMID:Kimberling 2010:20613545}; USMA-{USMACDH23D1806E:} USMA-{MSV3dQ9H251p.Asp1806Glu:}" "+MnlI;+BslI;-HpyCH4IV;-BmgBI;" "" "heterozygous" "Germline" "" "rs74145660" "0" "" "" "g.71784336C>G" "" "benign" "" "0000377137" "0" "11" "10" "73544093" "73544093" "subst" "0.0138948" "02416" "CDH23_000200" "g.73544093C>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMACDH23D1806E:} USMA-{MSV3dQ9H251p.Asp1806Glu:}" "+MnlI;+BslI;-HpyCH4IV;-BmgBI;" "" "heterozygous; non causative" "Germline" "" "rs74145660" "0" "" "" "g.71784336C>G" "" "benign" "" "0000377138" "0" "99" "10" "73572345" "73572345" "subst" "0" "02416" "CDH23_000201" "g.73572345G>A" "" "{PMID:Kimberling 2010:20613545}" "-BslI" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71812588G>A" "" "pathogenic" "" "0000377139" "10" "99" "10" "73546435" "73551514" "del" "0" "02416" "CDH23_000202" "g.73546435_73551514del" "0/64 controls" "{PMID:Nakanishi 2010:20844544}" "" "5821-?_6253+?del5708" "homozygous; probable pathogenic\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377140" "20" "99" "10" "73546435" "73551514" "del" "0" "02416" "CDH23_000202" "g.73546435_73551514del" "0/64 controls" "{PMID:Nakanishi 2010:20844544}" "" "5821-?_6253+?del5708" "homozygous; probable pathogenic\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377141" "0" "11" "10" "73377263" "73377263" "subst" "0.050754" "02417" "CDH23_000203" "g.73377263C>T" "" "{PMID:Aparis 2013:23451239}" "none" "" "heterozygous" "Germline" "" "rs75714857" "0" "" "" "g.71617506C>T" "" "benign" "" "0000377142" "11" "99" "10" "0" "0" "" "0" "02416" "CDH23_000204" "g.?" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377143" "10" "75" "10" "73468963" "73468963" "subst" "0" "02416" "CDH23_000205" "g.73468963C>A" "0/192 controls" "{PMID:Duman 2011:21117948}; USMA-{USMACDH23A1072D:} USMA-{MSV3dQ9H251p.Ala1072Asp:}" "-PhoI;-BccI;-HaeIII;-CviKI_1;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71709206C>A" "" "VUS" "ACMG" "0000377144" "10" "75" "10" "73468963" "73468963" "subst" "0" "02416" "CDH23_000205" "g.73468963C>A" "0/192 controls" "{PMID:Duman 2011:21117948}; USMA-{USMACDH23A1072D:} USMA-{MSV3dQ9H251p.Ala1072Asp:}" "-PhoI;-BccI;-HaeIII;-CviKI_1;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71709206C>A" "" "VUS" "ACMG" "0000377145" "10" "75" "10" "73468963" "73468963" "subst" "0" "02416" "CDH23_000205" "g.73468963C>A" "0/192 controls" "{PMID:Duman 2011:21117948}; USMA-{USMACDH23A1072D:} USMA-{MSV3dQ9H251p.Ala1072Asp:}" "-PhoI;-BccI;-HaeIII;-CviKI_1;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71709206C>A" "" "VUS" "ACMG" "0000377146" "10" "75" "10" "73468963" "73468963" "subst" "0" "02416" "CDH23_000205" "g.73468963C>A" "0/192 controls" "{PMID:Duman 2011:21117948}; USMA-{USMACDH23A1072D:} USMA-{MSV3dQ9H251p.Ala1072Asp:}" "-PhoI;-BccI;-HaeIII;-CviKI_1;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71709206C>A" "" "VUS" "ACMG" "0000377147" "10" "75" "10" "73468963" "73468963" "subst" "0" "02416" "CDH23_000205" "g.73468963C>A" "0/192 controls" "{PMID:Duman 2011:21117948}; USMA-{USMACDH23A1072D:} USMA-{MSV3dQ9H251p.Ala1072Asp:}" "-PhoI;-BccI;-HaeIII;-CviKI_1;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71709206C>A" "" "VUS" "ACMG" "0000377148" "10" "75" "10" "73468963" "73468963" "subst" "0" "02416" "CDH23_000205" "g.73468963C>A" "0/192 controls" "{PMID:Duman 2011:21117948}; USMA-{USMACDH23A1072D:} USMA-{MSV3dQ9H251p.Ala1072Asp:}" "-PhoI;-BccI;-HaeIII;-CviKI_1;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71709206C>A" "" "VUS" "ACMG" "0000377149" "20" "75" "10" "73468963" "73468963" "subst" "0" "02416" "CDH23_000205" "g.73468963C>A" "0/192 controls" "{PMID:Duman 2011:21117948}; USMA-{USMACDH23A1072D:} USMA-{MSV3dQ9H251p.Ala1072Asp:}" "-PhoI;-BccI;-HaeIII;-CviKI_1;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71709206C>A" "" "VUS" "ACMG" "0000377150" "20" "75" "10" "73468963" "73468963" "subst" "0" "02416" "CDH23_000205" "g.73468963C>A" "0/192 controls" "{PMID:Duman 2011:21117948}; USMA-{USMACDH23A1072D:} USMA-{MSV3dQ9H251p.Ala1072Asp:}" "-PhoI;-BccI;-HaeIII;-CviKI_1;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71709206C>A" "" "VUS" "ACMG" "0000377151" "20" "75" "10" "73468963" "73468963" "subst" "0" "02416" "CDH23_000205" "g.73468963C>A" "0/192 controls" "{PMID:Duman 2011:21117948}; USMA-{USMACDH23A1072D:} USMA-{MSV3dQ9H251p.Ala1072Asp:}" "-PhoI;-BccI;-HaeIII;-CviKI_1;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71709206C>A" "" "VUS" "ACMG" "0000377152" "20" "75" "10" "73468963" "73468963" "subst" "0" "02416" "CDH23_000205" "g.73468963C>A" "0/192 controls" "{PMID:Duman 2011:21117948}; USMA-{USMACDH23A1072D:} USMA-{MSV3dQ9H251p.Ala1072Asp:}" "-PhoI;-BccI;-HaeIII;-CviKI_1;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71709206C>A" "" "VUS" "ACMG" "0000377153" "20" "75" "10" "73468963" "73468963" "subst" "0" "02416" "CDH23_000205" "g.73468963C>A" "0/192 controls" "{PMID:Duman 2011:21117948}; USMA-{USMACDH23A1072D:} USMA-{MSV3dQ9H251p.Ala1072Asp:}" "-PhoI;-BccI;-HaeIII;-CviKI_1;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71709206C>A" "" "VUS" "ACMG" "0000377154" "20" "75" "10" "73468963" "73468963" "subst" "0" "02416" "CDH23_000205" "g.73468963C>A" "0/192 controls" "{PMID:Duman 2011:21117948}; USMA-{USMACDH23A1072D:} USMA-{MSV3dQ9H251p.Ala1072Asp:}" "-PhoI;-BccI;-HaeIII;-CviKI_1;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71709206C>A" "" "VUS" "ACMG" "0000377155" "10" "99" "10" "73538000" "73538001" "ins" "0" "02416" "CDH23_000206" "g.73538000_73538001insN[20]" "0/192 controls" "{PMID:Duman 2011:21117948}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377156" "10" "99" "10" "73538000" "73538001" "ins" "0" "02416" "CDH23_000206" "g.73538000_73538001insN[20]" "0/192 controls" "{PMID:Duman 2011:21117948}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377157" "10" "99" "10" "73538000" "73538001" "ins" "0" "02416" "CDH23_000206" "g.73538000_73538001insN[20]" "0/192 controls" "{PMID:Duman 2011:21117948}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377158" "10" "99" "10" "73538000" "73538001" "ins" "0" "02416" "CDH23_000206" "g.73538000_73538001insN[20]" "0/192 controls" "{PMID:Duman 2011:21117948}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377159" "20" "99" "10" "73538000" "73538001" "ins" "0" "02416" "CDH23_000206" "g.73538000_73538001insN[20]" "0/192 controls" "{PMID:Duman 2011:21117948}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377160" "20" "99" "10" "73538000" "73538001" "ins" "0" "02416" "CDH23_000206" "g.73538000_73538001insN[20]" "0/192 controls" "{PMID:Duman 2011:21117948}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377161" "20" "99" "10" "73538000" "73538001" "ins" "0" "02416" "CDH23_000206" "g.73538000_73538001insN[20]" "0/192 controls" "{PMID:Duman 2011:21117948}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377162" "20" "99" "10" "73538000" "73538001" "ins" "0" "02416" "CDH23_000206" "g.73538000_73538001insN[20]" "0/192 controls" "{PMID:Duman 2011:21117948}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377165" "11" "75" "10" "73571121" "73571121" "subst" "3.25016E-5" "02416" "CDH23_000208" "g.73571121C>T" "0/490 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMACDH23R3043W:} USMA-{MSV3dQ9H251p.Arg3043Trp:}" "-MspI;-HpaII;-BsaWI;-BspEI;" "" "heterozygous; Presumably pathogenic" "Germline" "" "" "0" "" "" "g.71811364C>T" "" "VUS" "ACMG" "0000377166" "1" "99" "10" "73553089" "73553090" "del" "0" "02416" "CDH23_000209" "g.73553089_73553090del" "" "{PMID:Bonnet 2011:21569298}" "none" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71793332_71793333del" "" "pathogenic" "" "0000377167" "1" "75" "10" "73494028" "73494028" "subst" "0" "02416" "CDH23_000210" "g.73494028G>C" "0/306 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMACDH23R1379P:} USMA-{MSV3dQ9H251p.Arg1379Pro:}" "+NlaIV;+DdeI;+BspCNI;-HpyCH4III;" "" "heterozygous; Presumably pathogenic" "Germline" "" "" "0" "" "" "g.71734271G>C" "" "VUS" "ACMG" "0000377168" "2" "75" "10" "73565606" "73565606" "subst" "0" "02416" "CDH23_000211" "g.73565606A>G" "0/306 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMACDH23D2639G:} USMA-{MSV3dQ9H251p.Asp2639Gly:}" "none" "" "heterozygous; Presumably pathogenic" "Germline" "" "" "0" "" "" "g.71805849A>G" "" "VUS" "ACMG" "0000377169" "0" "75" "10" "73485263" "73485263" "subst" "0" "02416" "CDH23_000212" "g.73485263C>T" "0/306 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMACDH23R1189W:} USMA-{MSV3dQ9H251p.Arg1189Trp:}" "-AciI" "" "heterozygous; Presumably pathogenic" "Germline" "" "" "0" "" "" "g.71725506C>T" "" "VUS" "ACMG" "0000377170" "0" "15" "10" "73269891" "73269891" "subst" "0.00460128" "02419" "CDH23_000214" "g.73269891G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs111033288" "0" "" "" "g.71510134G>A" "" "likely benign" "ACMG" "0000377171" "0" "15" "10" "73269891" "73269891" "subst" "0.00460128" "02419" "CDH23_000214" "g.73269891G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs111033288" "0" "" "" "g.71510134G>A" "" "likely benign" "ACMG" "0000377172" "0" "15" "10" "73269891" "73269891" "subst" "0.00460128" "02419" "CDH23_000214" "g.73269891G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs111033288" "0" "" "" "g.71510134G>A" "" "likely benign" "ACMG" "0000377173" "0" "15" "10" "73269891" "73269891" "subst" "0.00460128" "02419" "CDH23_000214" "g.73269891G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs111033288" "0" "" "" "g.71510134G>A" "" "likely benign" "ACMG" "0000377174" "0" "15" "10" "73269891" "73269891" "subst" "0.00460128" "02419" "CDH23_000214" "g.73269891G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs111033288" "0" "" "" "g.71510134G>A" "" "likely benign" "ACMG" "0000377175" "0" "15" "10" "73269891" "73269891" "subst" "0.00460128" "02419" "CDH23_000214" "g.73269891G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs111033288" "0" "" "" "g.71510134G>A" "" "likely benign" "ACMG" "0000377176" "0" "15" "10" "73491923" "73491923" "subst" "0.000195078" "02419" "CDH23_000215" "g.73491923G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23V1299I:} USMA-{MSV3dQ9H251p.Val1299Ile:}" "+SfaNI;-Hpy166II;-HgaI;-AccI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71732166G>A" "" "likely benign" "ACMG" "0000377177" "10" "15" "10" "73501619" "73501619" "subst" "2.94241E-5" "02419" "CDH23_000216" "g.73501619C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R1596C:} USMA-{MSV3dQ9H251p.Arg1596Cys:}" "-HinP1I;-HaeII;-HhaI;-Cac8I;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71741862C>T" "" "likely benign" "ACMG" "0000377178" "0" "15" "10" "73326620" "73326620" "subst" "0.00013001" "02419" "CDH23_000217" "g.73326620G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R184H:} USMA-{MSV3dQ9H251p.Arg184His:}" "+HpyCH4III;-FauI;-BstUI;-SacII;-MspA1I;-AciI;" "" "heterozygous; UV1" "Germline" "" "rs146726029" "0" "" "" "g.71566863G>A" "" "likely benign" "ACMG" "0000377179" "0" "15" "10" "73407820" "73407820" "subst" "0" "02419" "CDH23_000218" "g.73407820C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+StuI;-Sau96I;-HpyAV;-EcoO109I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71648063C>T" "" "likely benign" "ACMG" "0000377180" "0" "15" "10" "73407820" "73407820" "subst" "0" "02419" "CDH23_000218" "g.73407820C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+StuI;-Sau96I;-HpyAV;-EcoO109I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71648063C>T" "" "likely benign" "ACMG" "0000377181" "11" "15" "10" "73437293" "73437293" "subst" "0.000581525" "02419" "CDH23_000219" "g.73437293C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23T532M:} USMA-{MSV3dQ9H251p.Thr532Met:}" "+BclI;+MslI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71677536C>T" "" "likely benign" "ACMG" "0000377182" "11" "15" "10" "73437293" "73437293" "subst" "0.000581525" "02419" "CDH23_000219" "g.73437293C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23T532M:} USMA-{MSV3dQ9H251p.Thr532Met:}" "+BclI;+MslI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71677536C>T" "" "likely benign" "ACMG" "0000377183" "0" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02419" "CDH23_000220" "g.73483773G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000377184" "0" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02419" "CDH23_000220" "g.73483773G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000377185" "0" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02419" "CDH23_000220" "g.73483773G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000377186" "0" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02419" "CDH23_000220" "g.73483773G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000377187" "0" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02419" "CDH23_000220" "g.73483773G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000377188" "0" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02419" "CDH23_000220" "g.73483773G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000377189" "0" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02419" "CDH23_000220" "g.73483773G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000377190" "0" "11" "10" "73483773" "73483773" "subst" "0.0442519" "02419" "CDH23_000220" "g.73483773G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188III" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs72817951" "0" "" "" "g.71724016G>A" "" "benign" "" "0000377191" "10" "15" "10" "73575006" "73575006" "subst" "0.000562776" "02419" "CDH23_000221" "g.73575006G>C" "1/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23E3346Q:} USMA-{MSV3dQ9H251p.Glu3346Gln:}" "+HpyCH4V;-BsmAI;-BsaI;" "" "homozygous; UV1" "Germline" "" "" "0" "" "" "g.71815249G>C" "" "likely benign" "ACMG" "0000377192" "20" "15" "10" "73575006" "73575006" "subst" "0.000562776" "02419" "CDH23_000221" "g.73575006G>C" "1/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23E3346Q:} USMA-{MSV3dQ9H251p.Glu3346Gln:}" "+HpyCH4V;-BsmAI;-BsaI;" "" "homozygous; UV1" "Germline" "" "" "0" "" "" "g.71815249G>C" "" "likely benign" "ACMG" "0000377193" "10" "15" "10" "73475179" "73475179" "subst" "0" "02419" "CDH23_000222" "g.73475179G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71715422G>A" "" "likely benign" "ACMG" "0000377194" "20" "15" "10" "73475179" "73475179" "subst" "0" "02419" "CDH23_000222" "g.73475179G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PspGI;+BstNI;-TspMI;-XmaI;-MspI;-HpaII;" "" "homozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71715422G>A" "" "likely benign" "ACMG" "0000377195" "0" "11" "10" "73492300" "73492300" "subst" "0" "02419" "CDH23_000223" "g.73492300G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp509I;-MboII;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41281320" "0" "" "" "g.71732543G>A" "" "benign" "" "0000377196" "0" "11" "10" "73492300" "73492300" "subst" "0" "02419" "CDH23_000223" "g.73492300G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp509I;-MboII;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41281320" "0" "" "" "g.71732543G>A" "" "benign" "" "0000377197" "0" "11" "10" "73492300" "73492300" "subst" "0" "02419" "CDH23_000223" "g.73492300G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp509I;-MboII;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41281320" "0" "" "" "g.71732543G>A" "" "benign" "" "0000377198" "0" "15" "10" "73491718" "73491718" "subst" "0.00074449" "02419" "CDH23_000224" "g.73491718T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Sau96I;+NlaIV;+AvaII;+AciI;-BsgI;-HpyCH4V;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71731961T>C" "" "likely benign" "ACMG" "0000377199" "0" "15" "10" "73437576" "73437576" "subst" "0" "02419" "CDH23_000225" "g.73437576G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4III;+CviQI;+RsaI;-BtsI;-BsgI;-HpyCH4V;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71677819G>A" "" "likely benign" "ACMG" "0000377200" "0" "11" "10" "73491873" "73491873" "subst" "0.00291179" "02419" "CDH23_000226" "g.73491873A>G" "8/862 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23N1282S:} USMA-{MSV3dQ9H251p.Asn1282Ser:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs149073355" "0" "" "" "g.71732116A>G" "" "benign" "" "0000377201" "0" "11" "10" "73491873" "73491873" "subst" "0.00291179" "02419" "CDH23_000226" "g.73491873A>G" "8/862 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23N1282S:} USMA-{MSV3dQ9H251p.Asn1282Ser:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs149073355" "0" "" "" "g.71732116A>G" "" "benign" "" "0000377202" "0" "11" "10" "73439328" "73439328" "subst" "0" "02419" "CDH23_000227" "g.73439328G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HphI;-BtsCI;-FokI;" "" "heterozygous; pathogenicity not assessed\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3802716" "0" "" "" "" "" "benign" "" "0000377203" "10" "11" "10" "73439328" "73439328" "subst" "0" "02419" "CDH23_000227" "g.73439328G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HphI;-BtsCI;-FokI;" "" "homozygous; pathogenicity not assessed\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3802716" "0" "" "" "" "" "benign" "" "0000377204" "0" "11" "10" "73439328" "73439328" "subst" "0" "02419" "CDH23_000227" "g.73439328G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HphI;-BtsCI;-FokI;" "" "heterozygous; pathogenicity not assessed\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3802716" "0" "" "" "" "" "benign" "" "0000377205" "20" "11" "10" "73439328" "73439328" "subst" "0" "02419" "CDH23_000227" "g.73439328G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HphI;-BtsCI;-FokI;" "" "homozygous; pathogenicity not assessed\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs3802716" "0" "" "" "" "" "benign" "" "0000377206" "0" "15" "10" "73454036" "73454036" "subst" "0" "02419" "CDH23_000228" "g.73454036G>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BaeGI;-Bsp1286I;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71694279G>C" "" "likely benign" "ACMG" "0000377207" "0" "15" "10" "73556487" "73556487" "subst" "0" "02419" "CDH23_000229" "g.73556487C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+ FatI;+NlaII;+CviAII;+HpyCH4V;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs141527194" "0" "" "" "g.71796730C>T" "" "likely benign" "ACMG" "0000377208" "0" "15" "10" "73556487" "73556487" "subst" "0" "02419" "CDH23_000229" "g.73556487C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+ FatI;+NlaII;+CviAII;+HpyCH4V;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs141527194" "0" "" "" "g.71796730C>T" "" "likely benign" "ACMG" "0000377209" "0" "15" "10" "73559122" "73559122" "subst" "0" "02419" "CDH23_000230" "g.73559122C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BsmAI;+BsrI;-MnlI;-CviKI_1;-Cac8I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71799365C>T" "" "likely benign" "ACMG" "0000377210" "0" "15" "10" "73559122" "73559122" "subst" "0" "02419" "CDH23_000230" "g.73559122C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BsmAI;+BsrI;-MnlI;-CviKI_1;-Cac8I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71799365C>T" "" "likely benign" "ACMG" "0000377211" "11" "15" "10" "73571307" "73571307" "subst" "0.00138975" "02419" "CDH23_000231" "g.73571307G>A" "2/864 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23A3080T:} USMA-{MSV3dQ9H251p.Ala3080Thr:}" "+MscI;-Fnu4HI;-AciI;" "" "heterozygous; UV1" "Germline" "" "rs369395479" "0" "" "" "g.71811550G>A" "" "likely benign" "ACMG" "0000377212" "0" "15" "10" "73571307" "73571307" "subst" "0.00138975" "02416" "CDH23_000231" "g.73571307G>A" "3/128 controls" "{PMID:Woo 2014:24767429}; USMA-{USMACDH23A3080T:} USMA-{MSV3dQ9H251p.Ala3080Thr:}" "+MscI;-Fnu4HI;-AciI;" "" "heterozygous; considered non-causative" "Germline" "" "rs369395479" "0" "" "" "g.71811550G>A" "" "likely benign" "ACMG" "0000377213" "0" "99" "10" "73553398" "73553398" "subst" "0" "02419" "CDH23_000232" "g.73553398G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-CviQI;-RsaI;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71793641G>A" "" "pathogenic" "" "0000377214" "0" "15" "10" "73569841" "73569841" "subst" "0" "02419" "CDH23_000233" "g.73569841A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BssSI;+BcgI;-FatI;-NlaIII;-CviAII;" "" "heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.71810084A>G" "" "likely benign" "ACMG" "0000377215" "21" "11" "10" "73406232" "73406232" "subst" "0.00278516" "02419" "CDH23_000234" "g.73406232G>A" "3/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23S436N:} USMA-{MSV3dQ9H251p.Ser436Asn:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs111033369" "0" "" "" "g.71646475G>A" "" "benign" "" "0000377216" "21" "11" "10" "73406232" "73406232" "subst" "0.00278516" "02419" "CDH23_000234" "g.73406232G>A" "3/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23S436N:} USMA-{MSV3dQ9H251p.Ser436Asn:}" "none" "" "heterozygous; Neutral" "Germline" "" "rs111033369" "0" "" "" "g.71646475G>A" "" "benign" "" "0000377217" "0" "15" "10" "73466526" "73466526" "subst" "0" "02419" "CDH23_000235" "g.73466526C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Tsp45I;+DrdI;-SfaNI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71706769C>T" "" "likely benign" "ACMG" "0000377218" "0" "15" "10" "73565530" "73565530" "subst" "0" "02419" "CDH23_000236" "g.73565530G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+AlwI;+BstYI;+Sau3AI;+BamHI;-Sau96I;-AvaII;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71805773G>A" "" "likely benign" "ACMG" "0000377219" "0" "15" "10" "73491829" "73491829" "subst" "0.00141327" "02419" "CDH23_000237" "g.73491829C>T" "1/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+TspRI;-HphI;" "" "heterozygous; UV1" "Germline" "" "rs56107171" "0" "" "" "g.71732072C>T" "" "likely benign" "ACMG" "0000377220" "0" "15" "10" "73491829" "73491829" "subst" "0.00141327" "02419" "CDH23_000237" "g.73491829C>T" "1/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+TspRI;-HphI;" "" "heterozygous; UV1" "Germline" "" "rs56107171" "0" "" "" "g.71732072C>T" "" "likely benign" "ACMG" "0000377221" "11" "15" "10" "73570264" "73570264" "subst" "0.0036183" "02419" "CDH23_000238" "g.73570264G>A" "1/870 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4V;-HinP1I;-FspI;-HhaI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71810507G>A" "" "likely benign" "ACMG" "0000377222" "21" "15" "10" "73570264" "73570264" "subst" "0.0036183" "02419" "CDH23_000238" "g.73570264G>A" "1/870 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4V;-HinP1I;-FspI;-HhaI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71810507G>A" "" "likely benign" "ACMG" "0000377223" "21" "15" "10" "73570264" "73570264" "subst" "0.0036183" "02419" "CDH23_000238" "g.73570264G>A" "1/870 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4V;-HinP1I;-FspI;-HhaI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71810507G>A" "" "likely benign" "ACMG" "0000377224" "0" "15" "10" "73447355" "73447355" "subst" "0" "02419" "CDH23_000239" "g.73447355C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy166II;+BsrI;-CviKI_1;-Cac8I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71687598C>T" "" "likely benign" "ACMG" "0000377225" "0" "35" "10" "73550230" "73550230" "subst" "0" "02419" "CDH23_000240" "g.73550230T>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PvuII;+MspA1I;+AluI;+CviKI_1;-BtsI;-TspRI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs56145847" "0" "" "" "g.71790473T>A" "" "likely benign" "ACMG" "0000377226" "10" "35" "10" "73574943" "73574943" "subst" "4.13938E-6" "02419" "CDH23_000241" "g.73574943C>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R3325G:} USMA-{MSV3dQ9H251p.Arg3325Gly:}" "+MnlI;-HinP1I;-HhaI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71815186C>G" "" "likely benign" "ACMG" "0000377227" "0" "15" "10" "73157056" "73157056" "subst" "0" "02419" "CDH23_000242" "g.73157056C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HgaI;+Hpy99I;-HinP1I;-HaeII;-NlaIV;-KasI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71397299C>T" "" "likely benign" "ACMG" "0000377228" "10" "15" "10" "0" "0" "" "0" "02419" "CDH23_000243" "g.?" "" "{PMID:Le Quesne Stabej 2012:22135276}" "" "ENST00000224721:c.442G>A (Gly148Arg)" "homozygous; UV1" "Germline" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000377229" "10" "15" "10" "0" "0" "" "0" "02419" "CDH23_000243" "g.?" "" "{PMID:Le Quesne Stabej 2012:22135276}" "" "ENST00000224721:c.442G>A (Gly148Arg)" "homozygous; UV1" "Germline" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000377230" "10" "15" "10" "0" "0" "" "0" "02419" "CDH23_000243" "g.?" "" "{PMID:Le Quesne Stabej 2012:22135276}" "" "ENST00000224721:c.442G>A (Gly148Arg)" "homozygous; UV1" "Germline" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000377231" "20" "15" "10" "0" "0" "" "0" "02419" "CDH23_000243" "g.?" "" "{PMID:Le Quesne Stabej 2012:22135276}" "" "ENST00000224721:c.442G>A (Gly148Arg)" "homozygous; UV1" "Germline" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000377232" "0" "15" "10" "73548885" "73548885" "subst" "0" "02419" "CDH23_000244" "g.73548885C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BceAI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71789128C>T" "" "likely benign" "ACMG" "0000377233" "0" "15" "10" "73548885" "73548885" "subst" "0" "02419" "CDH23_000244" "g.73548885C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BceAI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71789128C>T" "" "likely benign" "ACMG" "0000377234" "0" "99" "10" "73559329" "73559329" "dup" "0" "02419" "CDH23_000245" "g.73559329dup" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71799572dup" "" "pathogenic" "" "0000377235" "0" "15" "10" "73498184" "73498184" "subst" "0" "02419" "CDH23_000246" "g.73498184C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+NcoI;+FatI;+NlaIII;+CviAII;+StyI;-HpyCH4III;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs117155162" "0" "" "" "g.71738427C>T" "" "likely benign" "ACMG" "0000377236" "0" "15" "10" "73498184" "73498184" "subst" "0" "02419" "CDH23_000246" "g.73498184C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+NcoI;+FatI;+NlaIII;+CviAII;+StyI;-HpyCH4III;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs117155162" "0" "" "" "g.71738427C>T" "" "likely benign" "ACMG" "0000377237" "0" "11" "10" "73574843" "73574843" "subst" "0.132127" "02419" "CDH23_000247" "g.73574843G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BtsI;+TspRI;-Fnu4HI;-ApeKI;-BbvI;-TseI;" "" "heterozygous; Neutral" "Germline" "" "rs2290021" "0" "" "" "g.71815086G>A" "" "benign" "" "0000377238" "0" "15" "10" "73269719" "73269719" "subst" "0" "02419" "CDH23_000248" "g.73269719C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-EcoNI;-CviKI_1;-HaeIII;-BslI;-Cac8I;-PhoI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs116150071" "0" "" "" "g.71509962C>T" "" "likely benign" "ACMG" "0000377239" "0" "15" "10" "73269866" "73269866" "subst" "0.0044103" "02419" "CDH23_000249" "g.73269866A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23Q58R:} USMA-{MSV3dQ9H251p.Gln58Arg :}" "+BsmAI;+BsoBI;+AvaI;-PflMI;" "" "heterozygous; UV1" "Germline" "" "rs61732490" "0" "" "" "g.71510109A>G" "" "likely benign" "ACMG" "0000377240" "0" "11" "10" "73269897" "73269897" "subst" "0.00444307" "02419" "CDH23_000250" "g.73269897C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs116624130" "0" "" "" "g.71510140C>T" "" "benign" "" "0000377241" "0" "15" "10" "73474113" "73474113" "subst" "0" "02419" "CDH23_000251" "g.73474113C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-ApaLI;-BaeGI;-BsiHKAI;-Hpy166II;-Bsp1286I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71714356C>T" "" "likely benign" "ACMG" "0000377242" "10" "15" "10" "0" "0" "" "0" "02419" "CDH23_000252" "g.?" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "" "ENST00000224721:c.444+3T>C" "heterozygous; UV1" "Germline" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000377243" "0" "15" "10" "73559074" "73559074" "subst" "0.000802745" "02419" "CDH23_000253" "g.73559074C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BaeGI;+Bsp1286I;-HinP1I;-BspMI;-HhaI;-BfuAI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs150381013" "0" "" "" "g.71799317C>T" "" "likely benign" "ACMG" "0000377244" "0" "11" "10" "73337473" "73337473" "subst" "0" "02419" "CDH23_000254" "g.73337473C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BsaJI;-BtgI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs74147345" "0" "" "" "g.71577716C>T" "" "benign" "" "0000377245" "0" "15" "10" "0" "0" "" "0" "02419" "CDH23_000255" "g.?" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+TfiI;+HinfI;-BssKI;-AlwI;-StyD4I;-BstN;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs146838188" "0" "" "" "" "" "likely benign" "ACMG" "0000377246" "0" "15" "10" "73553464" "73553464" "subst" "0" "02419" "CDH23_000256" "g.73553464C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71793707C>T" "" "likely benign" "ACMG" "0000377247" "0" "15" "10" "73553464" "73553464" "subst" "0" "02419" "CDH23_000256" "g.73553464C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71793707C>T" "" "likely benign" "ACMG" "0000377248" "0" "15" "10" "73571398" "73571398" "subst" "0" "02419" "CDH23_000257" "g.73571398T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BceAI;-BtsCI;-BccI;-MscI;-FokI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71811641T>C" "" "likely benign" "ACMG" "0000377249" "0" "15" "10" "73437456" "73437456" "subst" "0.000142034" "02419" "CDH23_000258" "g.73437456G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+SfaNI;-NlaIV;-BanI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71677699G>A" "" "likely benign" "ACMG" "0000377250" "10" "15" "10" "73537538" "73537538" "subst" "0.000764035" "02419" "CDH23_000259" "g.73537538G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71777781G>A" "" "likely benign" "ACMG" "0000377251" "0" "15" "10" "73571381" "73571381" "subst" "4.8794E-5" "02419" "CDH23_000260" "g.73571381G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71811624G>A" "" "likely benign" "ACMG" "0000377252" "0" "15" "10" "73575469" "73575469" "subst" "0" "02419" "CDH23_000261" "g.73575469G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-PshAI;-MlyI;-PleI;-HinfI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71815712G>A" "" "likely benign" "ACMG" "0000377253" "0" "15" "10" "73474603" "73474603" "subst" "0" "02419" "CDH23_000262" "g.73474603G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Fnu4HI;-ApeKI;-BbvI;-TseI;-BseYI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71714846G>A" "" "likely benign" "ACMG" "0000377254" "0" "15" "10" "73537673" "73537673" "subst" "0.00129906" "02419" "CDH23_000263" "g.73537673G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BccI" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71777916G>A" "" "likely benign" "ACMG" "0000377255" "0" "15" "10" "73553333" "73553333" "subst" "0.00122533" "02419" "CDH23_000264" "g.73553333C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+DdeI;+Bpu10I;-EaeI;-HaeIII;-MscI;-StyI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71793576C>T" "" "likely benign" "ACMG" "0000377256" "0" "15" "10" "73199674" "73199674" "subst" "0.00104798" "02419" "CDH23_000265" "g.73199674G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;" "" "heterozygous; UV1" "Germline" "" "rs115543769" "0" "" "" "g.71439917G>A" "" "likely benign" "ACMG" "0000377257" "0" "15" "10" "73537481" "73537481" "subst" "0.000143016" "02419" "CDH23_000266" "g.73537481C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BstUI" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71777724C>T" "" "likely benign" "ACMG" "0000377258" "0" "15" "10" "73473474" "73473474" "subst" "0" "02419" "CDH23_000267" "g.73473474G>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Sau96I;+BsmFI;+AvaII;-BanI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71713717G>C" "" "likely benign" "ACMG" "0000377259" "0" "15" "10" "73473474" "73473474" "subst" "0" "02419" "CDH23_000267" "g.73473474G>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Sau96I;+BsmFI;+AvaII;-BanI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71713717G>C" "" "likely benign" "ACMG" "0000377260" "0" "15" "10" "73434968" "73434968" "subst" "2.04638E-5" "02419" "CDH23_000268" "g.73434968G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4III;-BtsI;-AciI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71675211G>A" "" "likely benign" "ACMG" "0000377261" "11" "15" "10" "73442262" "73442262" "subst" "0.000179615" "02419" "CDH23_000269" "g.73442262C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23T640M:} USMA-{MSV3dQ9H251p.Thr640Met :}" "+BccI;-HpyCH4III;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71682505C>T" "" "likely benign" "ACMG" "0000377262" "0" "35" "10" "73570263" "73570263" "subst" "1.21831E-5" "02419" "CDH23_000270" "g.73570263C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23A3005V:} USMA-{MSV3dQ9H251p.Ala3005Val:}" "+BsgI;+HpyCH4V;-HinP1I;-FspI;-HhaI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71810506C>T" "" "likely benign" "ACMG" "0000377263" "0" "15" "10" "73491624" "73491624" "subst" "0" "02419" "CDH23_000271" "g.73491624G>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MnlI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71731867G>T" "" "likely benign" "ACMG" "0000377264" "0" "15" "10" "73494252" "73494252" "subst" "0" "02419" "CDH23_000272" "g.73494252A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71734495A>G" "" "likely benign" "ACMG" "0000377265" "0" "15" "10" "73442365" "73442365" "subst" "0.000119203" "02419" "CDH23_000273" "g.73442365T>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71682608T>A" "" "likely benign" "ACMG" "0000377266" "0" "11" "10" "73476504" "73476504" "subst" "0" "02419" "CDH23_000274" "g.73476504A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MspI;+HpaII;+NciI;-PspGI;-BstNI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs111802815" "0" "" "" "g.71716747A>G" "" "benign" "" "0000377267" "0" "11" "10" "73476504" "73476504" "subst" "0" "02419" "CDH23_000274" "g.73476504A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MspI;+HpaII;+NciI;-PspGI;-BstNI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs111802815" "0" "" "" "g.71716747A>G" "" "benign" "" "0000377268" "10" "11" "10" "73476504" "73476504" "subst" "0" "02419" "CDH23_000274" "g.73476504A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MspI;+HpaII;+NciI;-PspGI;-BstNI;" "" "homozygous; pathogenicity not assessed" "Germline" "" "rs111802815" "0" "" "" "g.71716747A>G" "" "benign" "" "0000377269" "20" "11" "10" "73476504" "73476504" "subst" "0" "02419" "CDH23_000274" "g.73476504A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MspI;+HpaII;+NciI;-PspGI;-BstNI;" "" "homozygous; pathogenicity not assessed" "Germline" "" "rs111802815" "0" "" "" "g.71716747A>G" "" "benign" "" "0000377270" "0" "11" "10" "73476504" "73476504" "subst" "0" "02419" "CDH23_000274" "g.73476504A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MspI;+HpaII;+NciI;-PspGI;-BstNI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs111802815" "0" "" "" "g.71716747A>G" "" "benign" "" "0000377271" "0" "11" "10" "73476504" "73476504" "subst" "0" "02419" "CDH23_000274" "g.73476504A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+MspI;+HpaII;+NciI;-PspGI;-BstNI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs111802815" "0" "" "" "g.71716747A>G" "" "benign" "" "0000377272" "0" "15" "10" "73450400" "73450400" "subst" "0" "02419" "CDH23_000275" "g.73450400C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BssKI;-ScrFI;-NciI;-StyD4I;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71690643C>T" "" "likely benign" "ACMG" "0000377273" "20" "15" "10" "73453962" "73453962" "subst" "0.000150367" "02419" "CDH23_000276" "g.73453962C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71694205C>T" "" "likely benign" "ACMG" "0000377274" "0" "11" "10" "73466670" "73466670" "subst" "0.00338077" "02419" "CDH23_000277" "g.73466670C>T" "6/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy99I" "" "heterozygous; Neutral" "Germline" "" "rs56216952" "0" "" "" "g.71706913C>T" "" "benign" "" "0000377275" "0" "11" "10" "73466670" "73466670" "subst" "0.00338077" "02419" "CDH23_000277" "g.73466670C>T" "6/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy99I" "" "heterozygous; Neutral" "Germline" "" "rs56216952" "0" "" "" "g.71706913C>T" "" "benign" "" "0000377276" "0" "11" "10" "73466670" "73466670" "subst" "0.00338077" "02419" "CDH23_000277" "g.73466670C>T" "6/874 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy99I" "" "heterozygous; Neutral" "Germline" "" "rs56216952" "0" "" "" "g.71706913C>T" "" "benign" "" "0000377277" "0" "11" "10" "73550969" "73550969" "subst" "0.308827" "02419" "CDH23_000278" "g.73550969G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23E2044K:} USMA-{MSV3dQ9H251p.Glu2044Lys:}" "-MnlI;-BbvCI;-BspCNI;" "" "heterozygous; Neutral" "Germline" "" "rs10466026" "0" "" "" "g.71791212G>A" "" "benign" "" "0000377278" "0" "15" "10" "73492286" "73492286" "subst" "0" "02419" "CDH23_000279" "g.73492286G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+AluI;-MnlI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71732529G>A" "" "likely benign" "ACMG" "0000377279" "0" "15" "10" "73439275" "73439275" "subst" "5.13922E-6" "02419" "CDH23_000280" "g.73439275C>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BbvI;+Fnu4HI;+ApeKI;-Sau96I;-NlaIV;-BanII;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71679518C>G" "" "likely benign" "ACMG" "0000377280" "0" "35" "10" "73498276" "73498276" "subst" "9.34018E-5" "02419" "CDH23_000281" "g.73498276G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23E1411K:} USMA-{MSV3dQ9H251p.Glu1411Lys :}" "none" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71738519G>A" "" "likely benign" "ACMG" "0000377281" "0" "11" "10" "73551036" "73551036" "subst" "0.00565298" "02419" "CDH23_000282" "g.73551036G>A" "3/836 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R2066Q:} USMA-{MSV3dQ9H251p.Arg2066Gln:}" "-BsrFI;-MspI;-HpaII;-HaeIII;-PhoI;-Sau96I;" "" "heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.71791279G>A" "" "benign" "" "0000377282" "0" "15" "10" "73475756" "73475756" "subst" "0" "02419" "CDH23_000283" "g.73475756C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-AlwNI;-CviKI_1;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71715999C>T" "" "likely benign" "ACMG" "0000377283" "10" "99" "10" "73453902" "73453902" "subst" "0" "02419" "CDH23_000284" "g.73453902A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FauI;+AciI;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71694145A>G" "" "pathogenic" "" "0000377284" "20" "75" "10" "73571116" "73571116" "subst" "0" "02419" "CDH23_000285" "g.73571116T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23L3041P:} USMA-{MSV3dQ9H251p.Leu3041Pro:}" "none" "" "heterozygous; UV4" "Germline" "" "" "0" "" "" "g.71811359T>C" "" "VUS" "ACMG" "0000377285" "0" "15" "10" "73376938" "73376938" "subst" "0.00303174" "02419" "CDH23_000286" "g.73376938G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BpmI;+BstNI;+PspGI;-MspI;-HpaII;-NciI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs80111574" "0" "" "" "g.71617181G>A" "" "likely benign" "ACMG" "0000377286" "0" "15" "10" "73376938" "73376938" "subst" "0.00303174" "02419" "CDH23_000286" "g.73376938G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BpmI;+BstNI;+PspGI;-MspI;-HpaII;-NciI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs80111574" "0" "" "" "g.71617181G>A" "" "likely benign" "ACMG" "0000377287" "10" "15" "10" "73572672" "73572672" "subst" "1.67031E-5" "02419" "CDH23_000287" "g.73572672G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BstUI;-HinP1I;-HhaI;" "" "homozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71812915G>A" "" "likely benign" "ACMG" "0000377288" "20" "15" "10" "73572672" "73572672" "subst" "1.67031E-5" "02419" "CDH23_000287" "g.73572672G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BstUI;-HinP1I;-HhaI;" "" "homozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71812915G>A" "" "likely benign" "ACMG" "0000377289" "0" "15" "10" "73406294" "73406294" "subst" "4.06108E-6" "02419" "CDH23_000288" "g.73406294C>T" "2/864 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23R457W:} USMA-{MSV3dQ9H251p.Arg457Trp:}" "+BsrI;-MspI;-HpaII;-BsrFI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71646537C>T" "" "likely benign" "ACMG" "0000377290" "10" "15" "10" "73498332" "73498332" "subst" "0.00025183" "02419" "CDH23_000289" "g.73498332C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+DdeI;+BspCNI;+Bsu36I;-BsoBI;-BsaJI;-AvaI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71738575C>T" "" "likely benign" "ACMG" "0000377291" "0" "11" "10" "73563027" "73563027" "subst" "0.00249238" "02419" "CDH23_000290" "g.73563027C>T" "3/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs111033483" "0" "" "" "g.71803270C>T" "" "benign" "" "0000377292" "21" "11" "10" "73563027" "73563027" "subst" "0.00249238" "02419" "CDH23_000290" "g.73563027C>T" "3/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Neutral" "Germline" "" "rs111033483" "0" "" "" "g.71803270C>T" "" "benign" "" "0000377293" "0" "15" "10" "73473455" "73473455" "subst" "0" "02419" "CDH23_000291" "g.73473455C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy166II;+BstZ17I;+AccI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41307565" "0" "" "" "g.71713698C>T" "" "likely benign" "ACMG" "0000377294" "21" "35" "10" "73472538" "73472538" "subst" "1.23434E-5" "02419" "CDH23_000292" "g.73472538G>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23E1113Q:} USMA-{MSV3dQ9H251p.Glu1113Gln:}" "+Hpy188III" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71712781G>C" "" "likely benign" "ACMG" "0000377295" "0" "15" "10" "73549892" "73549892" "subst" "0" "02419" "CDH23_000293" "g.73549892C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PstI;+HpyCH4V;+SfcI;-AciI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71790135C>T" "" "likely benign" "ACMG" "0000377296" "11" "75" "10" "73567764" "73567764" "subst" "0" "02419" "CDH23_000294" "g.73567764G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23G2908R:} USMA-{MSV3dQ9H251p.Gly2908Arg:}" "-NcoI;-BsaJI;-BtgI;-StyI;" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71808007G>A" "" "VUS" "ACMG" "0000377297" "0" "15" "10" "73393026" "73393026" "subst" "0" "02419" "CDH23_000295" "g.73393026T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-BtsCI;-BccI;-FokI;" "" "heterozygous; pathogenicity not assessed\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000377298" "0" "15" "10" "73537418" "73537418" "subst" "1.36587E-5" "02419" "CDH23_000296" "g.73537418G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Tsp45;- BmgBI;" "" "heterozygous; UV1" "Germline" "" "rs80261750" "0" "" "" "g.71777661G>A" "" "likely benign" "ACMG" "0000377299" "20" "15" "10" "73537418" "73537418" "subst" "1.36587E-5" "02416" "CDH23_000296" "g.73537418G>A" "" "{PMID:Neveling 2012:22334370}" "-Tsp45;- BmgBI;" "" "heterozygous; UV1" "Germline" "" "rs80261750" "0" "" "" "g.71777661G>A" "" "likely benign" "ACMG" "0000377300" "0" "15" "10" "73476021" "73476021" "subst" "0.00274334" "02419" "CDH23_000297" "g.73476021G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Tsp45I" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71716264G>A" "" "likely benign" "ACMG" "0000377301" "0" "15" "10" "73476021" "73476021" "subst" "0.00274334" "02419" "CDH23_000297" "g.73476021G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Tsp45I" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71716264G>A" "" "likely benign" "ACMG" "0000377302" "0" "15" "10" "73269700" "73269700" "subst" "0" "02419" "CDH23_000298" "g.73269700G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+PpuMI;+AvaII;-PhoI;-HaeIII;-BsaJI;-CviKI_1;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71509943G>A" "" "likely benign" "ACMG" "0000377303" "21" "99" "10" "73552936" "73552939" "delins" "0" "02419" "CDH23_000299" "g.73552936_73552939delinsT" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+SspI;-TfiI;-MmeI;-HinfI;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71793179_71793182delinsT" "" "pathogenic" "" "0000377304" "11" "95" "10" "73559386" "73559386" "subst" "4.06138E-6" "02419" "CDH23_000300" "g.73559386G>A" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+TspRI;-BslI;-BsaJI;-HphI;-BtgI;" "" "heterozygous; UV4" "Germline" "" "" "0" "" "" "g.71799629G>A" "" "likely pathogenic" "ACMG" "0000377305" "0" "15" "10" "73571871" "73571871" "subst" "0" "02419" "CDH23_000301" "g.73571871C>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BstNI;-StyD4I;-BssKI;-PspG;- BslI;-PflM;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71812114C>A" "" "likely benign" "ACMG" "0000377306" "0" "35" "10" "73206136" "73206136" "subst" "3.65524E-5" "02419" "CDH23_000302" "g.73206136C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+TspRI" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.71446379C>T" "" "likely benign" "ACMG" "0000377307" "0" "15" "10" "73571440" "73571440" "subst" "0" "02419" "CDH23_000303" "g.73571440C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71811683C>T" "" "likely benign" "ACMG" "0000377308" "0" "15" "10" "73544805" "73544805" "subst" "0.00331863" "02419" "CDH23_000304" "g.73544805C>T" "3/876 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMACDH23T1887I:} USMA-{MSV3dQ9H251p.Thr1887Ile:}" "+MboII;-HphI;-HpyAV;" "" "heterozygous; Neutral" "Germline" "" "" "0" "" "" "g.71785048C>T" "" "likely benign" "ACMG" "0000377309" "0" "15" "10" "73544805" "73544805" "subst" "0.00331863" "02416" "CDH23_000304" "g.73544805C>T" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23T1887I:} USMA-{MSV3dQ9H251p.Thr1887Ile:}" "+MboII;-HphI;-HpyAV;" "" "heterozygous; potentially pathogenic" "Germline" "" "" "0" "" "" "g.71785048C>T" "" "likely benign" "ACMG" "0000377310" "0" "15" "10" "73499328" "73499328" "subst" "0" "02419" "CDH23_000305" "g.73499328G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BsaJI;-MlyI;-PleI;-HinfI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71739571G>A" "" "likely benign" "ACMG" "0000377311" "0" "15" "10" "73559221" "73559221" "subst" "0" "02419" "CDH23_000306" "g.73559221C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BsaXI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71799464C>T" "" "likely benign" "ACMG" "0000377312" "0" "11" "10" "73560576" "73560576" "subst" "0" "02419" "CDH23_000307" "g.73560576C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BsmAI;-MnlI;-CviKI_1;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs74145677" "0" "" "" "g.71800819C>T" "" "benign" "" "0000377313" "0" "15" "10" "73544686" "73544686" "subst" "0.00282234" "02419" "CDH23_000308" "g.73544686C>T" "1/866 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs148632119" "0" "" "" "g.71784929C>T" "" "likely benign" "ACMG" "0000377314" "0" "15" "10" "73575465" "73575465" "subst" "0" "02419" "CDH23_000309" "g.73575465A>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+Hpy188II;+ MlyI;+PleI;+HinfI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.71815708A>T" "" "likely benign" "ACMG" "0000377315" "10" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377316" "10" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377317" "10" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377318" "10" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377319" "10" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377320" "10" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377321" "10" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377322" "20" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377323" "20" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377324" "20" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377325" "20" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377326" "20" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377327" "20" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377328" "20" "75" "10" "73337695" "73337695" "subst" "0" "02416" "CDH23_000310" "g.73337695G>A" "0/248 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23A260T:} USMA-{MSV3dQ9H251p.Ala260Thr:}" "-AciI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71577938G>A" "" "VUS" "ACMG" "0000377329" "10" "75" "10" "73498312" "73498312" "subst" "4.06111E-5" "02416" "CDH23_000311" "g.73498312G>A" "0/386 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D1423N:} USMA-{MSV3dQ9H251p.Asp1423Asn:}" "-Hpy188I;-HinfI;-MlyI;-PleI;-DrdI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71738555G>A" "" "VUS" "ACMG" "0000377330" "10" "75" "10" "73498312" "73498312" "subst" "4.06111E-5" "02416" "CDH23_000311" "g.73498312G>A" "0/386 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D1423N:} USMA-{MSV3dQ9H251p.Asp1423Asn:}" "-Hpy188I;-HinfI;-MlyI;-PleI;-DrdI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71738555G>A" "" "VUS" "ACMG" "0000377331" "10" "75" "10" "73498312" "73498312" "subst" "4.06111E-5" "02416" "CDH23_000311" "g.73498312G>A" "0/386 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D1423N:} USMA-{MSV3dQ9H251p.Asp1423Asn:}" "-Hpy188I;-HinfI;-MlyI;-PleI;-DrdI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71738555G>A" "" "VUS" "ACMG" "0000377332" "20" "75" "10" "73498312" "73498312" "subst" "4.06111E-5" "02416" "CDH23_000311" "g.73498312G>A" "0/386 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D1423N:} USMA-{MSV3dQ9H251p.Asp1423Asn:}" "-Hpy188I;-HinfI;-MlyI;-PleI;-DrdI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71738555G>A" "" "VUS" "ACMG" "0000377333" "20" "75" "10" "73498312" "73498312" "subst" "4.06111E-5" "02416" "CDH23_000311" "g.73498312G>A" "0/386 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D1423N:} USMA-{MSV3dQ9H251p.Asp1423Asn:}" "-Hpy188I;-HinfI;-MlyI;-PleI;-DrdI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71738555G>A" "" "VUS" "ACMG" "0000377334" "20" "75" "10" "73498312" "73498312" "subst" "4.06111E-5" "02416" "CDH23_000311" "g.73498312G>A" "0/386 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D1423N:} USMA-{MSV3dQ9H251p.Asp1423Asn:}" "-Hpy188I;-HinfI;-MlyI;-PleI;-DrdI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71738555G>A" "" "VUS" "ACMG" "0000377335" "10" "75" "10" "73501662" "73501662" "subst" "0" "02416" "CDH23_000312" "g.73501662G>T" "0/318 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23G1610V:} USMA-{MSV3dQ9H251p.Gly1610Val:}" "+BstEII;+PflFI;+Tth111I;-BaeGI;-NlaIV;-BanI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741905G>T" "" "VUS" "ACMG" "0000377336" "20" "75" "10" "73501662" "73501662" "subst" "0" "02416" "CDH23_000312" "g.73501662G>T" "0/318 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23G1610V:} USMA-{MSV3dQ9H251p.Gly1610Val:}" "+BstEII;+PflFI;+Tth111I;-BaeGI;-NlaIV;-BanI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741905G>T" "" "VUS" "ACMG" "0000377337" "10" "75" "10" "73501662" "73501662" "subst" "0" "02416" "CDH23_000312" "g.73501662G>T" "0/318 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23G1610V:} USMA-{MSV3dQ9H251p.Gly1610Val:}" "+BstEII;+PflFI;+Tth111I;-BaeGI;-NlaIV;-BanI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741905G>T" "" "VUS" "ACMG" "0000377338" "20" "75" "10" "73501662" "73501662" "subst" "0" "02416" "CDH23_000312" "g.73501662G>T" "0/318 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23G1610V:} USMA-{MSV3dQ9H251p.Gly1610Val:}" "+BstEII;+PflFI;+Tth111I;-BaeGI;-NlaIV;-BanI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741905G>T" "" "VUS" "ACMG" "0000377339" "10" "75" "10" "73501662" "73501662" "subst" "0" "02416" "CDH23_000312" "g.73501662G>T" "0/318 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23G1610V:} USMA-{MSV3dQ9H251p.Gly1610Val:}" "+BstEII;+PflFI;+Tth111I;-BaeGI;-NlaIV;-BanI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741905G>T" "" "VUS" "ACMG" "0000377340" "20" "75" "10" "73501662" "73501662" "subst" "0" "02416" "CDH23_000312" "g.73501662G>T" "0/318 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23G1610V:} USMA-{MSV3dQ9H251p.Gly1610Val:}" "+BstEII;+PflFI;+Tth111I;-BaeGI;-NlaIV;-BanI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741905G>T" "" "VUS" "ACMG" "0000377341" "10" "75" "10" "73565973" "73565973" "subst" "5.16871E-6" "02416" "CDH23_000313" "g.73565973A>G" "0/278 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23M2705V:} USMA-{MSV3dQ9H251p.Met2705Val:}" "+HpyCH4III;+BsgI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71806216A>G" "" "VUS" "ACMG" "0000377342" "20" "75" "10" "73565973" "73565973" "subst" "5.16871E-6" "02416" "CDH23_000313" "g.73565973A>G" "0/278 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23M2705V:} USMA-{MSV3dQ9H251p.Met2705Val:}" "+HpyCH4III;+BsgI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71806216A>G" "" "VUS" "ACMG" "0000377343" "10" "75" "10" "73565973" "73565973" "subst" "5.16871E-6" "02416" "CDH23_000313" "g.73565973A>G" "0/278 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23M2705V:} USMA-{MSV3dQ9H251p.Met2705Val:}" "+HpyCH4III;+BsgI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71806216A>G" "" "VUS" "ACMG" "0000377344" "20" "75" "10" "73565973" "73565973" "subst" "5.16871E-6" "02416" "CDH23_000313" "g.73565973A>G" "0/278 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23M2705V:} USMA-{MSV3dQ9H251p.Met2705Val:}" "+HpyCH4III;+BsgI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71806216A>G" "" "VUS" "ACMG" "0000377345" "10" "75" "10" "73565973" "73565973" "subst" "5.16871E-6" "02416" "CDH23_000313" "g.73565973A>G" "0/278 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23M2705V:} USMA-{MSV3dQ9H251p.Met2705Val:}" "+HpyCH4III;+BsgI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71806216A>G" "" "VUS" "ACMG" "0000377346" "20" "75" "10" "73565973" "73565973" "subst" "5.16871E-6" "02416" "CDH23_000313" "g.73565973A>G" "0/278 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23M2705V:} USMA-{MSV3dQ9H251p.Met2705Val:}" "+HpyCH4III;+BsgI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71806216A>G" "" "VUS" "ACMG" "0000377347" "10" "75" "10" "73501521" "73501521" "subst" "2.87585E-5" "02416" "CDH23_000314" "g.73501521T>C" "0/320 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23L1563P:} USMA-{MSV3dQ9H251p.Leu1563Pro:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741764T>C" "" "VUS" "ACMG" "0000377348" "10" "75" "10" "73501521" "73501521" "subst" "2.87585E-5" "02416" "CDH23_000314" "g.73501521T>C" "0/320 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23L1563P:} USMA-{MSV3dQ9H251p.Leu1563Pro:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741764T>C" "" "VUS" "ACMG" "0000377349" "10" "75" "10" "73501521" "73501521" "subst" "2.87585E-5" "02416" "CDH23_000314" "g.73501521T>C" "0/320 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23L1563P:} USMA-{MSV3dQ9H251p.Leu1563Pro:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741764T>C" "" "VUS" "ACMG" "0000377350" "20" "75" "10" "73501521" "73501521" "subst" "2.87585E-5" "02416" "CDH23_000314" "g.73501521T>C" "0/320 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23L1563P:} USMA-{MSV3dQ9H251p.Leu1563Pro:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741764T>C" "" "VUS" "ACMG" "0000377351" "20" "75" "10" "73501521" "73501521" "subst" "2.87585E-5" "02416" "CDH23_000314" "g.73501521T>C" "0/320 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23L1563P:} USMA-{MSV3dQ9H251p.Leu1563Pro:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741764T>C" "" "VUS" "ACMG" "0000377352" "20" "75" "10" "73501521" "73501521" "subst" "2.87585E-5" "02416" "CDH23_000314" "g.73501521T>C" "0/320 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23L1563P:} USMA-{MSV3dQ9H251p.Leu1563Pro:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741764T>C" "" "VUS" "ACMG" "0000377353" "10" "75" "10" "73565680" "73565682" "del" "0" "02416" "CDH23_000315" "g.73565680_73565682del" "0/232 controls" "{PMID:Schultz 2011:21940737}" "-MboII" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71805923_71805925del" "" "VUS" "ACMG" "0000377354" "10" "75" "10" "73565680" "73565682" "del" "0" "02416" "CDH23_000315" "g.73565680_73565682del" "0/232 controls" "{PMID:Schultz 2011:21940737}" "-MboII" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71805923_71805925del" "" "VUS" "ACMG" "0000377355" "10" "75" "10" "73565680" "73565682" "del" "0" "02416" "CDH23_000315" "g.73565680_73565682del" "0/232 controls" "{PMID:Schultz 2011:21940737}" "-MboII" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71805923_71805925del" "" "VUS" "ACMG" "0000377356" "10" "75" "10" "73565680" "73565682" "del" "0" "02416" "CDH23_000315" "g.73565680_73565682del" "0/232 controls" "{PMID:Schultz 2011:21940737}" "-MboII" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71805923_71805925del" "" "VUS" "ACMG" "0000377357" "20" "75" "10" "73565680" "73565682" "del" "0" "02416" "CDH23_000315" "g.73565680_73565682del" "0/232 controls" "{PMID:Schultz 2011:21940737}" "-MboII" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71805923_71805925del" "" "VUS" "ACMG" "0000377358" "20" "75" "10" "73565680" "73565682" "del" "0" "02416" "CDH23_000315" "g.73565680_73565682del" "0/232 controls" "{PMID:Schultz 2011:21940737}" "-MboII" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71805923_71805925del" "" "VUS" "ACMG" "0000377359" "20" "75" "10" "73565680" "73565682" "del" "0" "02416" "CDH23_000315" "g.73565680_73565682del" "0/232 controls" "{PMID:Schultz 2011:21940737}" "-MboII" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71805923_71805925del" "" "VUS" "ACMG" "0000377360" "20" "75" "10" "73565680" "73565682" "del" "0" "02416" "CDH23_000315" "g.73565680_73565682del" "0/232 controls" "{PMID:Schultz 2011:21940737}" "-MboII" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71805923_71805925del" "" "VUS" "ACMG" "0000377361" "10" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377362" "10" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377363" "10" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377364" "10" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377365" "10" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377366" "10" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377367" "10" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377368" "20" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377369" "20" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377370" "20" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377371" "20" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377372" "20" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377373" "20" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377374" "20" "75" "10" "73567494" "73567494" "subst" "1.72127E-5" "02416" "CDH23_000316" "g.73567494C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844S:} USMA-{MSV3dQ9H251p.Pro2844Ser:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807737C>T" "" "VUS" "ACMG" "0000377375" "10" "75" "10" "73567495" "73567495" "subst" "0" "02416" "CDH23_000317" "g.73567495C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844L:} USMA-{MSV3dQ9H251p.Pro2844Leu:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807738C>T" "" "VUS" "ACMG" "0000377376" "10" "75" "10" "73567495" "73567495" "subst" "0" "02416" "CDH23_000317" "g.73567495C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844L:} USMA-{MSV3dQ9H251p.Pro2844Leu:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807738C>T" "" "VUS" "ACMG" "0000377377" "10" "75" "10" "73567495" "73567495" "subst" "0" "02416" "CDH23_000317" "g.73567495C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844L:} USMA-{MSV3dQ9H251p.Pro2844Leu:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807738C>T" "" "VUS" "ACMG" "0000377378" "10" "75" "10" "73567495" "73567495" "subst" "0" "02416" "CDH23_000317" "g.73567495C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844L:} USMA-{MSV3dQ9H251p.Pro2844Leu:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807738C>T" "" "VUS" "ACMG" "0000377379" "20" "75" "10" "73567495" "73567495" "subst" "0" "02416" "CDH23_000317" "g.73567495C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844L:} USMA-{MSV3dQ9H251p.Pro2844Leu:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807738C>T" "" "VUS" "ACMG" "0000377380" "20" "75" "10" "73567495" "73567495" "subst" "0" "02416" "CDH23_000317" "g.73567495C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844L:} USMA-{MSV3dQ9H251p.Pro2844Leu:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807738C>T" "" "VUS" "ACMG" "0000377381" "20" "75" "10" "73567495" "73567495" "subst" "0" "02416" "CDH23_000317" "g.73567495C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844L:} USMA-{MSV3dQ9H251p.Pro2844Leu:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807738C>T" "" "VUS" "ACMG" "0000377382" "20" "75" "10" "73567495" "73567495" "subst" "0" "02416" "CDH23_000317" "g.73567495C>T" "0/282 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2844L:} USMA-{MSV3dQ9H251p.Pro2844Leu:}" "none" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807738C>T" "" "VUS" "ACMG" "0000377383" "10" "99" "10" "73377130" "73377130" "subst" "0" "02416" "CDH23_000318" "g.73377130C>T" "0/160 controls" "{PMID:Schultz 2011:21940737}" "+BfaI;-BssKI;-StyD4I;-BstNI;-BtsCI;-PspGI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71617373C>T" "" "pathogenic" "" "0000377384" "10" "99" "10" "73377130" "73377130" "subst" "0" "02416" "CDH23_000318" "g.73377130C>T" "0/160 controls" "{PMID:Schultz 2011:21940737}" "+BfaI;-BssKI;-StyD4I;-BstNI;-BtsCI;-PspGI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71617373C>T" "" "pathogenic" "" "0000377385" "10" "99" "10" "73377130" "73377130" "subst" "0" "02416" "CDH23_000318" "g.73377130C>T" "0/160 controls" "{PMID:Schultz 2011:21940737}" "+BfaI;-BssKI;-StyD4I;-BstNI;-BtsCI;-PspGI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71617373C>T" "" "pathogenic" "" "0000377386" "20" "99" "10" "73377130" "73377130" "subst" "0" "02416" "CDH23_000318" "g.73377130C>T" "0/160 controls" "{PMID:Schultz 2011:21940737}" "+BfaI;-BssKI;-StyD4I;-BstNI;-BtsCI;-PspGI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71617373C>T" "" "pathogenic" "" "0000377387" "20" "99" "10" "73377130" "73377130" "subst" "0" "02416" "CDH23_000318" "g.73377130C>T" "0/160 controls" "{PMID:Schultz 2011:21940737}" "+BfaI;-BssKI;-StyD4I;-BstNI;-BtsCI;-PspGI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71617373C>T" "" "pathogenic" "" "0000377388" "20" "99" "10" "73377130" "73377130" "subst" "0" "02416" "CDH23_000318" "g.73377130C>T" "0/160 controls" "{PMID:Schultz 2011:21940737}" "+BfaI;-BssKI;-StyD4I;-BstNI;-BtsCI;-PspGI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71617373C>T" "" "pathogenic" "" "0000377389" "10" "99" "10" "73466806" "73466817" "delins" "0" "02416" "CDH23_000319" "g.73466806_73466817delinsTGGT" "0/126 controls" "{PMID:Schultz 2011:21940737}" "+NlaIV;+NlaIII;+FatI;-BssKI;-BbvI;-StyD4I;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71707049_71707060delinsTGGT" "" "pathogenic" "" "0000377390" "10" "99" "10" "73466806" "73466817" "delins" "0" "02416" "CDH23_000319" "g.73466806_73466817delinsTGGT" "0/126 controls" "{PMID:Schultz 2011:21940737}" "+NlaIV;+NlaIII;+FatI;-BssKI;-BbvI;-StyD4I;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71707049_71707060delinsTGGT" "" "pathogenic" "" "0000377391" "10" "99" "10" "73466806" "73466817" "delins" "0" "02416" "CDH23_000319" "g.73466806_73466817delinsTGGT" "0/126 controls" "{PMID:Schultz 2011:21940737}" "+NlaIV;+NlaIII;+FatI;-BssKI;-BbvI;-StyD4I;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71707049_71707060delinsTGGT" "" "pathogenic" "" "0000377392" "10" "99" "10" "73466806" "73466817" "delins" "0" "02416" "CDH23_000319" "g.73466806_73466817delinsTGGT" "0/126 controls" "{PMID:Schultz 2011:21940737}" "+NlaIV;+NlaIII;+FatI;-BssKI;-BbvI;-StyD4I;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71707049_71707060delinsTGGT" "" "pathogenic" "" "0000377393" "10" "99" "10" "73466806" "73466817" "delins" "0" "02416" "CDH23_000319" "g.73466806_73466817delinsTGGT" "0/126 controls" "{PMID:Schultz 2011:21940737}" "+NlaIV;+NlaIII;+FatI;-BssKI;-BbvI;-StyD4I;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71707049_71707060delinsTGGT" "" "pathogenic" "" "0000377394" "20" "99" "10" "73466806" "73466817" "delins" "0" "02416" "CDH23_000319" "g.73466806_73466817delinsTGGT" "0/126 controls" "{PMID:Schultz 2011:21940737}" "+NlaIV;+NlaIII;+FatI;-BssKI;-BbvI;-StyD4I;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71707049_71707060delinsTGGT" "" "pathogenic" "" "0000377395" "20" "99" "10" "73466806" "73466817" "delins" "0" "02416" "CDH23_000319" "g.73466806_73466817delinsTGGT" "0/126 controls" "{PMID:Schultz 2011:21940737}" "+NlaIV;+NlaIII;+FatI;-BssKI;-BbvI;-StyD4I;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71707049_71707060delinsTGGT" "" "pathogenic" "" "0000377396" "20" "99" "10" "73466806" "73466817" "delins" "0" "02416" "CDH23_000319" "g.73466806_73466817delinsTGGT" "0/126 controls" "{PMID:Schultz 2011:21940737}" "+NlaIV;+NlaIII;+FatI;-BssKI;-BbvI;-StyD4I;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71707049_71707060delinsTGGT" "" "pathogenic" "" "0000377397" "20" "99" "10" "73466806" "73466817" "delins" "0" "02416" "CDH23_000319" "g.73466806_73466817delinsTGGT" "0/126 controls" "{PMID:Schultz 2011:21940737}" "+NlaIV;+NlaIII;+FatI;-BssKI;-BbvI;-StyD4I;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71707049_71707060delinsTGGT" "" "pathogenic" "" "0000377398" "20" "99" "10" "73466806" "73466817" "delins" "0" "02416" "CDH23_000319" "g.73466806_73466817delinsTGGT" "0/126 controls" "{PMID:Schultz 2011:21940737}" "+NlaIV;+NlaIII;+FatI;-BssKI;-BbvI;-StyD4I;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71707049_71707060delinsTGGT" "" "pathogenic" "" "0000377399" "10" "99" "10" "73550888" "73550888" "subst" "8.72151E-6" "02416" "CDH23_000320" "g.73550888G>C" "0/144 controls" "{PMID:Schultz 2011:21940737}" "+HpyCH4IV;+PmlI;+AflIII;-PspGI;-BssKI;-ScrFI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791131G>C" "" "pathogenic" "" "0000377400" "10" "99" "10" "73550888" "73550888" "subst" "8.72151E-6" "02416" "CDH23_000320" "g.73550888G>C" "0/144 controls" "{PMID:Schultz 2011:21940737}" "+HpyCH4IV;+PmlI;+AflIII;-PspGI;-BssKI;-ScrFI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791131G>C" "" "pathogenic" "" "0000377401" "10" "99" "10" "73550888" "73550888" "subst" "8.72151E-6" "02416" "CDH23_000320" "g.73550888G>C" "0/144 controls" "{PMID:Schultz 2011:21940737}" "+HpyCH4IV;+PmlI;+AflIII;-PspGI;-BssKI;-ScrFI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791131G>C" "" "pathogenic" "" "0000377402" "10" "99" "10" "73550888" "73550888" "subst" "8.72151E-6" "02416" "CDH23_000320" "g.73550888G>C" "0/144 controls" "{PMID:Schultz 2011:21940737}" "+HpyCH4IV;+PmlI;+AflIII;-PspGI;-BssKI;-ScrFI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791131G>C" "" "pathogenic" "" "0000377403" "10" "99" "10" "73550888" "73550888" "subst" "8.72151E-6" "02416" "CDH23_000320" "g.73550888G>C" "0/144 controls" "{PMID:Schultz 2011:21940737}" "+HpyCH4IV;+PmlI;+AflIII;-PspGI;-BssKI;-ScrFI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791131G>C" "" "pathogenic" "" "0000377404" "10" "99" "10" "73550888" "73550888" "subst" "8.72151E-6" "02416" "CDH23_000320" "g.73550888G>C" "0/144 controls" "{PMID:Schultz 2011:21940737}" "+HpyCH4IV;+PmlI;+AflIII;-PspGI;-BssKI;-ScrFI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791131G>C" "" "pathogenic" "" "0000377405" "20" "99" "10" "73550888" "73550888" "subst" "8.72151E-6" "02416" "CDH23_000320" "g.73550888G>C" "0/144 controls" "{PMID:Schultz 2011:21940737}" "+HpyCH4IV;+PmlI;+AflIII;-PspGI;-BssKI;-ScrFI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791131G>C" "" "pathogenic" "" "0000377406" "20" "99" "10" "73550888" "73550888" "subst" "8.72151E-6" "02416" "CDH23_000320" "g.73550888G>C" "0/144 controls" "{PMID:Schultz 2011:21940737}" "+HpyCH4IV;+PmlI;+AflIII;-PspGI;-BssKI;-ScrFI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791131G>C" "" "pathogenic" "" "0000377407" "20" "99" "10" "73550888" "73550888" "subst" "8.72151E-6" "02416" "CDH23_000320" "g.73550888G>C" "0/144 controls" "{PMID:Schultz 2011:21940737}" "+HpyCH4IV;+PmlI;+AflIII;-PspGI;-BssKI;-ScrFI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791131G>C" "" "pathogenic" "" "0000377408" "20" "99" "10" "73550888" "73550888" "subst" "8.72151E-6" "02416" "CDH23_000320" "g.73550888G>C" "0/144 controls" "{PMID:Schultz 2011:21940737}" "+HpyCH4IV;+PmlI;+AflIII;-PspGI;-BssKI;-ScrFI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791131G>C" "" "pathogenic" "" "0000377409" "20" "99" "10" "73550888" "73550888" "subst" "8.72151E-6" "02416" "CDH23_000320" "g.73550888G>C" "0/144 controls" "{PMID:Schultz 2011:21940737}" "+HpyCH4IV;+PmlI;+AflIII;-PspGI;-BssKI;-ScrFI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791131G>C" "" "pathogenic" "" "0000377410" "20" "99" "10" "73550888" "73550888" "subst" "8.72151E-6" "02416" "CDH23_000320" "g.73550888G>C" "0/144 controls" "{PMID:Schultz 2011:21940737}" "+HpyCH4IV;+PmlI;+AflIII;-PspGI;-BssKI;-ScrFI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791131G>C" "" "pathogenic" "" "0000377411" "10" "99" "10" "73550893" "73550913" "del" "0" "02416" "CDH23_000321" "g.73550893_73550913del" "0/144 controls" "{PMID:Schultz 2011:21940737}" "-BstEII;-MnlI;-HpyCH4III;-DrdI;-Tsp45I;-HphI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791136_71791156del" "" "pathogenic" "" "0000377412" "10" "99" "10" "73550893" "73550913" "del" "0" "02416" "CDH23_000321" "g.73550893_73550913del" "0/144 controls" "{PMID:Schultz 2011:21940737}" "-BstEII;-MnlI;-HpyCH4III;-DrdI;-Tsp45I;-HphI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791136_71791156del" "" "pathogenic" "" "0000377413" "10" "99" "10" "73550893" "73550913" "del" "0" "02416" "CDH23_000321" "g.73550893_73550913del" "0/144 controls" "{PMID:Schultz 2011:21940737}" "-BstEII;-MnlI;-HpyCH4III;-DrdI;-Tsp45I;-HphI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791136_71791156del" "" "pathogenic" "" "0000377414" "20" "99" "10" "73550893" "73550913" "del" "0" "02416" "CDH23_000321" "g.73550893_73550913del" "0/144 controls" "{PMID:Schultz 2011:21940737}" "-BstEII;-MnlI;-HpyCH4III;-DrdI;-Tsp45I;-HphI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791136_71791156del" "" "pathogenic" "" "0000377415" "20" "99" "10" "73550893" "73550913" "del" "0" "02416" "CDH23_000321" "g.73550893_73550913del" "0/144 controls" "{PMID:Schultz 2011:21940737}" "-BstEII;-MnlI;-HpyCH4III;-DrdI;-Tsp45I;-HphI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791136_71791156del" "" "pathogenic" "" "0000377416" "20" "99" "10" "73550893" "73550913" "del" "0" "02416" "CDH23_000321" "g.73550893_73550913del" "0/144 controls" "{PMID:Schultz 2011:21940737}" "-BstEII;-MnlI;-HpyCH4III;-DrdI;-Tsp45I;-HphI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71791136_71791156del" "" "pathogenic" "" "0000377417" "10" "99" "10" "73558126" "73558126" "del" "0" "02416" "CDH23_000322" "g.73558126del" "0/496 controls" "{PMID:Schultz 2011:21940737}" "+Tsp45I;+BmgBI;+DrdI;-HincII;-Hpy166II;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71798369del" "" "pathogenic" "" "0000377418" "10" "99" "10" "73558126" "73558126" "del" "0" "02416" "CDH23_000322" "g.73558126del" "0/496 controls" "{PMID:Schultz 2011:21940737}" "+Tsp45I;+BmgBI;+DrdI;-HincII;-Hpy166II;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71798369del" "" "pathogenic" "" "0000377419" "10" "99" "10" "73558126" "73558126" "del" "0" "02416" "CDH23_000322" "g.73558126del" "0/496 controls" "{PMID:Schultz 2011:21940737}" "+Tsp45I;+BmgBI;+DrdI;-HincII;-Hpy166II;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71798369del" "" "pathogenic" "" "0000377420" "20" "99" "10" "73558126" "73558126" "del" "0" "02416" "CDH23_000322" "g.73558126del" "0/496 controls" "{PMID:Schultz 2011:21940737}" "+Tsp45I;+BmgBI;+DrdI;-HincII;-Hpy166II;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71798369del" "" "pathogenic" "" "0000377421" "20" "99" "10" "73558126" "73558126" "del" "0" "02416" "CDH23_000322" "g.73558126del" "0/496 controls" "{PMID:Schultz 2011:21940737}" "+Tsp45I;+BmgBI;+DrdI;-HincII;-Hpy166II;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71798369del" "" "pathogenic" "" "0000377422" "20" "99" "10" "73558126" "73558126" "del" "0" "02416" "CDH23_000322" "g.73558126del" "0/496 controls" "{PMID:Schultz 2011:21940737}" "+Tsp45I;+BmgBI;+DrdI;-HincII;-Hpy166II;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71798369del" "" "pathogenic" "" "0000377423" "10" "75" "10" "73559011" "73559011" "subst" "0" "02416" "CDH23_000323" "g.73559011C>T" "0/262 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2400S:} USMA-{MSV3dQ9H251p.Pro2400Ser:}" "+BsaXI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71799254C>T" "" "VUS" "ACMG" "0000377424" "10" "75" "10" "73559011" "73559011" "subst" "0" "02416" "CDH23_000323" "g.73559011C>T" "0/262 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2400S:} USMA-{MSV3dQ9H251p.Pro2400Ser:}" "+BsaXI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71799254C>T" "" "VUS" "ACMG" "0000377425" "10" "75" "10" "73559011" "73559011" "subst" "0" "02416" "CDH23_000323" "g.73559011C>T" "0/262 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2400S:} USMA-{MSV3dQ9H251p.Pro2400Ser:}" "+BsaXI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71799254C>T" "" "VUS" "ACMG" "0000377426" "10" "75" "10" "73559011" "73559011" "subst" "0" "02416" "CDH23_000323" "g.73559011C>T" "0/262 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2400S:} USMA-{MSV3dQ9H251p.Pro2400Ser:}" "+BsaXI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71799254C>T" "" "VUS" "ACMG" "0000377427" "20" "75" "10" "73559011" "73559011" "subst" "0" "02416" "CDH23_000323" "g.73559011C>T" "0/262 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2400S:} USMA-{MSV3dQ9H251p.Pro2400Ser:}" "+BsaXI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71799254C>T" "" "VUS" "ACMG" "0000377428" "20" "75" "10" "73559011" "73559011" "subst" "0" "02416" "CDH23_000323" "g.73559011C>T" "0/262 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2400S:} USMA-{MSV3dQ9H251p.Pro2400Ser:}" "+BsaXI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71799254C>T" "" "VUS" "ACMG" "0000377429" "20" "75" "10" "73559011" "73559011" "subst" "0" "02416" "CDH23_000323" "g.73559011C>T" "0/262 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2400S:} USMA-{MSV3dQ9H251p.Pro2400Ser:}" "+BsaXI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71799254C>T" "" "VUS" "ACMG" "0000377430" "20" "75" "10" "73559011" "73559011" "subst" "0" "02416" "CDH23_000323" "g.73559011C>T" "0/262 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23P2400S:} USMA-{MSV3dQ9H251p.Pro2400Ser:}" "+BsaXI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71799254C>T" "" "VUS" "ACMG" "0000377431" "10" "75" "10" "73566010" "73566010" "subst" "0" "02416" "CDH23_000324" "g.73566010A>G" "0/280 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2717G:} USMA-{MSV3dQ9H251p.Asp2717Gly:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71806253A>G" "" "VUS" "ACMG" "0000377432" "10" "75" "10" "73566010" "73566010" "subst" "0" "02416" "CDH23_000324" "g.73566010A>G" "0/280 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2717G:} USMA-{MSV3dQ9H251p.Asp2717Gly:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71806253A>G" "" "VUS" "ACMG" "0000377433" "10" "75" "10" "73566010" "73566010" "subst" "0" "02416" "CDH23_000324" "g.73566010A>G" "0/280 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2717G:} USMA-{MSV3dQ9H251p.Asp2717Gly:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71806253A>G" "" "VUS" "ACMG" "0000377434" "20" "75" "10" "73566010" "73566010" "subst" "0" "02416" "CDH23_000324" "g.73566010A>G" "0/280 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2717G:} USMA-{MSV3dQ9H251p.Asp2717Gly:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71806253A>G" "" "VUS" "ACMG" "0000377435" "20" "75" "10" "73566010" "73566010" "subst" "0" "02416" "CDH23_000324" "g.73566010A>G" "0/280 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2717G:} USMA-{MSV3dQ9H251p.Asp2717Gly:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71806253A>G" "" "VUS" "ACMG" "0000377436" "20" "75" "10" "73566010" "73566010" "subst" "0" "02416" "CDH23_000324" "g.73566010A>G" "0/280 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D2717G:} USMA-{MSV3dQ9H251p.Asp2717Gly:}" "+BccI" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71806253A>G" "" "VUS" "ACMG" "0000377437" "10" "99" "10" "73567063" "73567064" "del" "0" "02416" "CDH23_000325" "g.73567063_73567064del" "0/136 controls" "{PMID:Schultz 2011:21940737}" "-MwoI;-HpyCH4III;-TspRI;-AlwNI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000377438" "10" "99" "10" "73567063" "73567064" "del" "0" "02416" "CDH23_000325" "g.73567063_73567064del" "0/136 controls" "{PMID:Schultz 2011:21940737}" "-MwoI;-HpyCH4III;-TspRI;-AlwNI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000377439" "10" "99" "10" "73567063" "73567064" "del" "0" "02416" "CDH23_000325" "g.73567063_73567064del" "0/136 controls" "{PMID:Schultz 2011:21940737}" "-MwoI;-HpyCH4III;-TspRI;-AlwNI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000377440" "10" "99" "10" "73567063" "73567064" "del" "0" "02416" "CDH23_000325" "g.73567063_73567064del" "0/136 controls" "{PMID:Schultz 2011:21940737}" "-MwoI;-HpyCH4III;-TspRI;-AlwNI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000377441" "10" "99" "10" "73567063" "73567064" "del" "0" "02416" "CDH23_000325" "g.73567063_73567064del" "0/136 controls" "{PMID:Schultz 2011:21940737}" "-MwoI;-HpyCH4III;-TspRI;-AlwNI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000377442" "10" "99" "10" "73567063" "73567064" "del" "0" "02416" "CDH23_000325" "g.73567063_73567064del" "0/136 controls" "{PMID:Schultz 2011:21940737}" "-MwoI;-HpyCH4III;-TspRI;-AlwNI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000377443" "20" "99" "10" "73567063" "73567064" "del" "0" "02416" "CDH23_000325" "g.73567063_73567064del" "0/136 controls" "{PMID:Schultz 2011:21940737}" "-MwoI;-HpyCH4III;-TspRI;-AlwNI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000377444" "20" "99" "10" "73567063" "73567064" "del" "0" "02416" "CDH23_000325" "g.73567063_73567064del" "0/136 controls" "{PMID:Schultz 2011:21940737}" "-MwoI;-HpyCH4III;-TspRI;-AlwNI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000377445" "20" "99" "10" "73567063" "73567064" "del" "0" "02416" "CDH23_000325" "g.73567063_73567064del" "0/136 controls" "{PMID:Schultz 2011:21940737}" "-MwoI;-HpyCH4III;-TspRI;-AlwNI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000377446" "20" "99" "10" "73567063" "73567064" "del" "0" "02416" "CDH23_000325" "g.73567063_73567064del" "0/136 controls" "{PMID:Schultz 2011:21940737}" "-MwoI;-HpyCH4III;-TspRI;-AlwNI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000377447" "20" "99" "10" "73567063" "73567064" "del" "0" "02416" "CDH23_000325" "g.73567063_73567064del" "0/136 controls" "{PMID:Schultz 2011:21940737}" "-MwoI;-HpyCH4III;-TspRI;-AlwNI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000377448" "20" "99" "10" "73567063" "73567064" "del" "0" "02416" "CDH23_000325" "g.73567063_73567064del" "0/136 controls" "{PMID:Schultz 2011:21940737}" "-MwoI;-HpyCH4III;-TspRI;-AlwNI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807306_71807307del" "" "pathogenic" "" "0000377449" "10" "99" "10" "73569771" "73569771" "subst" "0" "02416" "CDH23_000326" "g.73569771G>T" "0/378 controls" "{PMID:Schultz 2011:21940737}" "-BseRI;-MnlI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71810014G>T" "" "pathogenic" "" "0000377450" "20" "99" "10" "73569771" "73569771" "subst" "0" "02416" "CDH23_000326" "g.73569771G>T" "0/378 controls" "{PMID:Schultz 2011:21940737}" "-BseRI;-MnlI;" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.71810014G>T" "" "pathogenic" "" "0000377451" "0" "75" "10" "73466716" "73466716" "subst" "8.58104E-6" "02416" "CDH23_000327" "g.73466716G>A" "0/400 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23E1006K:} USMA-{MSV3dQ9H251p.Glu1006Lys:}" "+StyI;-Hpy188I;-MnlI;" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706959G>A" "" "VUS" "ACMG" "0000377452" "0" "75" "10" "73466716" "73466716" "subst" "8.58104E-6" "02416" "CDH23_000327" "g.73466716G>A" "0/400 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23E1006K:} USMA-{MSV3dQ9H251p.Glu1006Lys:}" "+StyI;-Hpy188I;-MnlI;" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706959G>A" "" "VUS" "ACMG" "0000377453" "10" "75" "10" "73466716" "73466716" "subst" "8.58104E-6" "02416" "CDH23_000327" "g.73466716G>A" "0/400 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23E1006K:} USMA-{MSV3dQ9H251p.Glu1006Lys:}" "+StyI;-Hpy188I;-MnlI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71706959G>A" "" "VUS" "ACMG" "0000377454" "11" "75" "10" "73466716" "73466716" "subst" "8.58104E-6" "02416" "CDH23_000327" "g.73466716G>A" "0/400 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23E1006K:} USMA-{MSV3dQ9H251p.Glu1006Lys:}" "+StyI;-Hpy188I;-MnlI;" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71706959G>A" "" "VUS" "ACMG" "0000377455" "20" "75" "10" "73466716" "73466716" "subst" "8.58104E-6" "02416" "CDH23_000327" "g.73466716G>A" "0/400 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23E1006K:} USMA-{MSV3dQ9H251p.Glu1006Lys:}" "+StyI;-Hpy188I;-MnlI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71706959G>A" "" "VUS" "ACMG" "0000377456" "0" "75" "10" "73501495" "73501495" "subst" "1.23667E-5" "02416" "CDH23_000328" "g.73501495C>A" "0/400 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D1554E:} USMA-{MSV3dQ9H251p.Asp1554Glu:}" "+HpyCH4IV;-HpyCH4III;" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741738C>A" "" "VUS" "ACMG" "0000377457" "11" "75" "10" "73501495" "73501495" "subst" "1.23667E-5" "02416" "CDH23_000328" "g.73501495C>A" "0/400 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23D1554E:} USMA-{MSV3dQ9H251p.Asp1554Glu:}" "+HpyCH4IV;-HpyCH4III;" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71741738C>A" "" "VUS" "ACMG" "0000377458" "10" "75" "10" "73544808" "73544808" "subst" "0" "02416" "CDH23_000329" "g.73544808T>C" "0/108 controls" "{PMID:Schultz 2005:15829536}; USMA-{USMACDH23F1888S:} USMA-{MSV3dQ9H251p.Phe1888Ser:}" "+MnlI;-HpyAV;" "" "homozygous; Mutation" "Germline" "" "rs121908352" "0" "" "" "g.71785051T>C" "" "VUS" "ACMG" "0000377459" "10" "75" "10" "73544808" "73544808" "subst" "0" "02416" "CDH23_000329" "g.73544808T>C" "0/108 controls" "{PMID:Schultz 2005:15829536}; USMA-{USMACDH23F1888S:} USMA-{MSV3dQ9H251p.Phe1888Ser:}" "+MnlI;-HpyAV;" "" "homozygous; Mutation" "Germline" "" "rs121908352" "0" "" "" "g.71785051T>C" "" "VUS" "ACMG" "0000377460" "10" "75" "10" "73544808" "73544808" "subst" "0" "02416" "CDH23_000329" "g.73544808T>C" "0/108 controls" "{PMID:Schultz 2005:15829536}; USMA-{USMACDH23F1888S:} USMA-{MSV3dQ9H251p.Phe1888Ser:}" "+MnlI;-HpyAV;" "" "homozygous; Mutation" "Germline" "" "rs121908352" "0" "" "" "g.71785051T>C" "" "VUS" "ACMG" "0000377461" "10" "75" "10" "73544808" "73544808" "subst" "0" "02416" "CDH23_000329" "g.73544808T>C" "0/108 controls" "{PMID:Schultz 2005:15829536}; USMA-{USMACDH23F1888S:} USMA-{MSV3dQ9H251p.Phe1888Ser:}" "+MnlI;-HpyAV;" "" "homozygous; Mutation" "Germline" "" "rs121908352" "0" "" "" "g.71785051T>C" "" "VUS" "ACMG" "0000377462" "10" "75" "10" "73544808" "73544808" "subst" "0" "02416" "CDH23_000329" "g.73544808T>C" "0/108 controls" "{PMID:Schultz 2005:15829536}; USMA-{USMACDH23F1888S:} USMA-{MSV3dQ9H251p.Phe1888Ser:}" "+MnlI;-HpyAV;" "" "homozygous; Mutation" "Germline" "" "rs121908352" "0" "" "" "g.71785051T>C" "" "VUS" "ACMG" "0000377463" "20" "75" "10" "73544808" "73544808" "subst" "0" "02416" "CDH23_000329" "g.73544808T>C" "0/108 controls" "{PMID:Schultz 2005:15829536}; USMA-{USMACDH23F1888S:} USMA-{MSV3dQ9H251p.Phe1888Ser:}" "+MnlI;-HpyAV;" "" "homozygous; Mutation" "Germline" "" "rs121908352" "0" "" "" "g.71785051T>C" "" "VUS" "ACMG" "0000377464" "20" "75" "10" "73544808" "73544808" "subst" "0" "02416" "CDH23_000329" "g.73544808T>C" "0/108 controls" "{PMID:Schultz 2005:15829536}; USMA-{USMACDH23F1888S:} USMA-{MSV3dQ9H251p.Phe1888Ser:}" "+MnlI;-HpyAV;" "" "homozygous; Mutation" "Germline" "" "rs121908352" "0" "" "" "g.71785051T>C" "" "VUS" "ACMG" "0000377465" "20" "75" "10" "73544808" "73544808" "subst" "0" "02416" "CDH23_000329" "g.73544808T>C" "0/108 controls" "{PMID:Schultz 2005:15829536}; USMA-{USMACDH23F1888S:} USMA-{MSV3dQ9H251p.Phe1888Ser:}" "+MnlI;-HpyAV;" "" "homozygous; Mutation" "Germline" "" "rs121908352" "0" "" "" "g.71785051T>C" "" "VUS" "ACMG" "0000377466" "20" "75" "10" "73544808" "73544808" "subst" "0" "02416" "CDH23_000329" "g.73544808T>C" "0/108 controls" "{PMID:Schultz 2005:15829536}; USMA-{USMACDH23F1888S:} USMA-{MSV3dQ9H251p.Phe1888Ser:}" "+MnlI;-HpyAV;" "" "homozygous; Mutation" "Germline" "" "rs121908352" "0" "" "" "g.71785051T>C" "" "VUS" "ACMG" "0000377467" "20" "75" "10" "73544808" "73544808" "subst" "0" "02416" "CDH23_000329" "g.73544808T>C" "0/108 controls" "{PMID:Schultz 2005:15829536}; USMA-{USMACDH23F1888S:} USMA-{MSV3dQ9H251p.Phe1888Ser:}" "+MnlI;-HpyAV;" "" "homozygous; Mutation" "Germline" "" "rs121908352" "0" "" "" "g.71785051T>C" "" "VUS" "ACMG" "0000377468" "11" "75" "10" "73544808" "73544808" "subst" "0" "02416" "CDH23_000329" "g.73544808T>C" "" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23F1888S:} USMA-{MSV3dQ9H251p.Phe1888Ser:}" "+MnlI;-HpyAV;" "" "heterozygous; Mutation" "Germline" "" "rs121908352" "0" "" "" "g.71785051T>C" "" "VUS" "ACMG" "0000377469" "20" "99" "10" "73569737" "73569737" "dup" "0" "02416" "CDH23_000330" "g.73569737dup" "0/378 controls" "{PMID:Schultz 2011:21940737}" "none" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71809980dup" "" "pathogenic" "" "0000377470" "21" "99" "10" "73269982" "73269982" "subst" "0" "02416" "CDH23_000331" "g.73269982G>C" "0/204 controls" "{PMID:Schultz 2011:21940737}" "+AluI;+CviKI_1;-MnlI;" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71510225G>C" "" "pathogenic" "" "0000377471" "11" "99" "10" "73562833" "73562833" "subst" "0" "02416" "CDH23_000332" "g.73562833G>T" "0/394 controls" "{PMID:Schultz 2011:21940737}" "none" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71803076G>T" "" "pathogenic" "" "0000377472" "21" "99" "10" "73447425" "73447425" "dup" "0" "02416" "CDH23_000333" "g.73447425dup" "0/182 controls" "{PMID:Schultz 2011:21940737}" "none" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71687668dup" "" "pathogenic" "" "0000377473" "21" "99" "10" "73447425" "73447425" "dup" "0" "02416" "CDH23_000333" "g.73447425dup" "0/182 controls" "{PMID:Schultz 2011:21940737}" "none" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71687668dup" "" "pathogenic" "" "0000377474" "0" "75" "10" "73483839" "73483839" "subst" "0" "02416" "CDH23_000334" "g.73483839G>A" "0/396 controls" "{PMID:Schultz 2011:21940737}; USMA-{USMACDH23R1136H:} USMA-{MSV3dQ9H251p.Arg1136His:}" "+NspI;+FatI;+NlaIII;+CviAII;" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71724082G>A" "" "VUS" "ACMG" "0000377475" "20" "75" "10" "73466774" "73466774" "subst" "0.000921284" "02416" "CDH23_000335" "g.73466774G>A" "" "{PMID:Neveling 2012:22334370}; USMA-{USMACDH23G1025D:} USMA-{MSV3dQ9H251p.Gly1025Asp:}" "+Hpy166II;+AvaII;-PhoI;-HaeIII;-CviKI_1;" "" "heterozygous; pathogenicity unclear" "Germline" "" "rs143179070" "0" "" "" "g.71707017G>A" "" "VUS" "ACMG" "0000377476" "0" "15" "10" "73544094" "73544094" "subst" "0.000678443" "02416" "CDH23_000336" "g.73544094G>A" "1/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23V1807M:} USMA-{MSV3dQ9H251p.Val1807Met:}" "+FatI;+NlaIII;+CviAII;-HpyCH4IV;-BmgBI;" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "rs143993990" "0" "" "" "g.71784337G>A" "" "likely benign" "ACMG" "0000377477" "20" "15" "10" "73544094" "73544094" "subst" "0.000678443" "02416" "CDH23_000336" "g.73544094G>A" "" "{PMID:Neveling 2012:22334370}; USMA-{USMACDH23V1807M:} USMA-{MSV3dQ9H251p.Val1807Met:}" "+FatI;+NlaIII;+CviAII;-HpyCH4IV;-BmgBI;" "" "heterozygous; pathogenicity unclear" "Germline" "" "rs143993990" "0" "" "" "g.71784337G>A" "" "likely benign" "ACMG" "0000377478" "1" "15" "10" "73544094" "73544094" "subst" "0.000678443" "02416" "CDH23_000336" "g.73544094G>A" "1/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23V1807M:} USMA-{MSV3dQ9H251p.Val1807Met:}" "+FatI;+NlaIII;+CviAII;-HpyCH4IV;-BmgBI;" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "rs143993990" "0" "" "" "g.71784337G>A" "" "likely benign" "ACMG" "0000377479" "10" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377480" "10" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377481" "10" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377482" "10" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377483" "10" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377484" "10" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377485" "10" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377486" "10" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377487" "10" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377488" "20" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377489" "20" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377490" "20" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377491" "20" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377492" "20" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377493" "20" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377494" "20" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377495" "20" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377496" "20" "75" "10" "73565593" "73565593" "subst" "2.85558E-5" "02416" "CDH23_000337" "g.73565593G>T" "0/106 controls" "{PMID:Brownstein 2011:21917145}; USMA-{USMACDH23V2635F:} USMA-{MSV3dQ9H251p.Val2635Phe:}" "-Hpy166II;-MnlI;-AccI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.71805836G>T" "" "VUS" "ACMG" "0000377497" "10" "75" "10" "73544672" "73544672" "subst" "0" "02416" "CDH23_000338" "g.73544672G>T" "" "{PMID:De Keulenaer 2012:22607986}; USMA-{USMACDH23D1843Y:} USMA-{MSV3dQ9H251p.Asp1843Tyr:}" "+BsrGI;+CviQI;+RsaI;-BslI;" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71784915G>T" "" "VUS" "ACMG" "0000377498" "10" "75" "10" "73544672" "73544672" "subst" "0" "02416" "CDH23_000338" "g.73544672G>T" "" "{PMID:De Keulenaer 2012:22607986}; USMA-{USMACDH23D1843Y:} USMA-{MSV3dQ9H251p.Asp1843Tyr:}" "+BsrGI;+CviQI;+RsaI;-BslI;" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71784915G>T" "" "VUS" "ACMG" "0000377499" "20" "75" "10" "73544672" "73544672" "subst" "0" "02416" "CDH23_000338" "g.73544672G>T" "" "{PMID:De Keulenaer 2012:22607986}; USMA-{USMACDH23D1843Y:} USMA-{MSV3dQ9H251p.Asp1843Tyr:}" "+BsrGI;+CviQI;+RsaI;-BslI;" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71784915G>T" "" "VUS" "ACMG" "0000377500" "20" "75" "10" "73544672" "73544672" "subst" "0" "02416" "CDH23_000338" "g.73544672G>T" "" "{PMID:De Keulenaer 2012:22607986}; USMA-{USMACDH23D1843Y:} USMA-{MSV3dQ9H251p.Asp1843Tyr:}" "+BsrGI;+CviQI;+RsaI;-BslI;" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71784915G>T" "" "VUS" "ACMG" "0000377501" "0" "75" "10" "73498294" "73498294" "subst" "7.71624E-5" "02416" "CDH23_000339" "g.73498294C>T" "0/276 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R1417W:} USMA-{MSV3dQ9H251p.Arg1417Trp:}" "+AlwNI;+BstNI;+PspGI;-HpaII;-MspI;-NciI;" "" "heterozygous; possible pathologic in Miyagawa , 2012; Uncertain pathogenicity" "Germline" "" "" "0" "" "" "g.71738537C>T" "" "VUS" "ACMG" "0000377502" "0" "75" "10" "73498294" "73498294" "subst" "7.71624E-5" "02416" "CDH23_000339" "g.73498294C>T" "0/276 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R1417W:} USMA-{MSV3dQ9H251p.Arg1417Trp:}" "+AlwNI;+BstNI;+PspGI;-HpaII;-MspI;-NciI;" "" "heterozygous; possible pathologic in Miyagawa , 2012; Uncertain pathogenicity" "Germline" "" "" "0" "" "" "g.71738537C>T" "" "VUS" "ACMG" "0000377503" "10" "75" "10" "73498294" "73498294" "subst" "7.71624E-5" "02416" "CDH23_000339" "g.73498294C>T" "0/384 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R1417W:} USMA-{MSV3dQ9H251p.Arg1417Trp:}" "+AlwNI;+BstNI;+PspGI;-HpaII;-MspI;-NciI;" "" "homozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71738537C>T" "" "VUS" "ACMG" "0000377504" "20" "75" "10" "73498294" "73498294" "subst" "7.71624E-5" "02416" "CDH23_000339" "g.73498294C>T" "0/384 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R1417W:} USMA-{MSV3dQ9H251p.Arg1417Trp:}" "+AlwNI;+BstNI;+PspGI;-HpaII;-MspI;-NciI;" "" "homozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71738537C>T" "" "VUS" "ACMG" "0000377505" "0" "35" "10" "73538009" "73538009" "subst" "0.000316764" "02416" "CDH23_000340" "g.73538009G>A" "0/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23V1711I:} USMA-{MSV3dQ9H251p.Val1711Ile:}" "+BclI;-Tsp45I;" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "rs181611778" "0" "" "" "g.71778252G>A" "" "likely benign" "ACMG" "0000377506" "0" "35" "10" "73538009" "73538009" "subst" "0.000316764" "00143" "CDH23_000340" "g.73538009G>A" "" "{PMID:Krawitz 2014:25333064}; USMA-{USMACDH23V1711I:} USMA-{MSV3dQ9H251p.Val1711Ile:}" "+BclI;-Tsp45I;" "" "heterozygous; mutation" "Germline" "" "rs181611778" "0" "" "" "g.71778252G>A" "" "likely benign" "ACMG" "0000377507" "0" "35" "10" "73544772" "73544772" "subst" "4.06085E-6" "02416" "CDH23_000341" "g.73544772G>A" "0/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23S1876N:} USMA-{MSV3dQ9H251p.Ser1876Asn:}" "-BsrI;-Tsp45I;" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "" "0" "" "" "g.71785015G>A" "" "likely benign" "ACMG" "0000377508" "0" "15" "10" "73545397" "73545397" "subst" "0.00041412" "02416" "CDH23_000342" "g.73545397G>A" "1/286 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23V1908I:} USMA-{MSV3dQ9H251p.Val1908Ile:}" "+MslI;-Tsp45I;" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "" "0" "" "" "g.71785640G>A" "" "likely benign" "ACMG" "0000377509" "0" "35" "10" "73553196" "73553196" "subst" "8.13299E-6" "02416" "CDH23_000343" "g.73553196C>T" "0/274 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R2171C:} USMA-{MSV3dQ9H251p.Arg2171Cys:}" "-AciI;-FauI;" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "" "0" "" "" "g.71793439C>T" "" "likely benign" "ACMG" "0000377510" "0" "35" "10" "73553365" "73553365" "subst" "2.92934E-5" "02416" "CDH23_000344" "g.73553365A>C" "0/280 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23Q2227P:} USMA-{MSV3dQ9H251p.Gln2227Pro:}" "+HpaII;+MspI;+NciI;" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "" "0" "" "" "g.71793608A>C" "" "likely benign" "ACMG" "0000377511" "0" "75" "10" "73560448" "73560448" "subst" "0" "02416" "CDH23_000345" "g.73560448T>C" "0/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23L2437P:} USMA-{MSV3dQ9H251p.Leu2473Pro:}" "" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "" "0" "" "" "g.71800691T>C" "" "VUS" "ACMG" "0000377512" "0" "75" "10" "73560496" "73560496" "subst" "2.43861E-5" "02416" "CDH23_000346" "g.73560496G>A" "0/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R2489H:} USMA-{MSV3dQ9H251p.Arg2489His:}" "+ Tsp45I;-BstUI;-Hpy99I;-MwoI,;-NruI;" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "rs141986620" "0" "" "" "g.71800739G>A" "" "VUS" "ACMG" "0000377513" "0" "35" "10" "73565695" "73565695" "subst" "0" "02416" "CDH23_000347" "g.73565695A>G" "0/290 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23I2669V:} USMA-{MSV3dQ9H251p.Ile2669Val:}" "+BmrI;+BsrI;+PflFI;+Tth111I;" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "" "0" "" "" "g.71805938A>G" "" "likely benign" "ACMG" "0000377514" "0" "33" "10" "73567365" "73567365" "subst" "0.000264223" "02416" "CDH23_000348" "g.73567365T>G" "2/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23F2801V:} USMA-{MSV3dQ9H251p.Phe2801Val:}" "-HpyAV" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "rs3802707" "0" "" "" "g.71807608T>G" "" "likely benign" "ACMG" "0000377515" "0" "15" "10" "73567365" "73567365" "subst" "0.000264223" "02416" "CDH23_000348" "g.73567365T>G" "2/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23F2801V:} USMA-{MSV3dQ9H251p.Phe2801Val:}" "-HpyAV" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "rs3802707" "0" "" "" "g.71807608T>G" "" "likely benign" "ACMG" "0000377516" "0" "15" "10" "73567365" "73567365" "subst" "0.000264223" "02416" "CDH23_000348" "g.73567365T>G" "2/292 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23F2801V:} USMA-{MSV3dQ9H251p.Phe2801Val:}" "-HpyAV" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "rs3802707" "0" "" "" "g.71807608T>G" "" "likely benign" "ACMG" "0000377517" "0" "75" "10" "73572537" "73572537" "subst" "1.22936E-5" "02416" "CDH23_000349" "g.73572537C>T" "0/274 controls" "{PMID:Wagatsuma 2007:17850630}; USMA-{USMACDH23R3175C:} USMA-{MSV3dQ9H251p.Arg3175Cys:}" "" "" "heterozygous; Uncertain pathogenicity" "Germline" "" "" "0" "" "" "g.71812780C>T" "" "VUS" "ACMG" "0000377518" "2" "75" "10" "73492131" "73492131" "subst" "1.86488E-5" "02416" "CDH23_000350" "g.73492131C>T" "0/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23T1368M:} USMA-{MSV3dQ9H251p.Thr1368Met:}" "+CviAII;+FatI;+NlaIII;-HpyCH4III;" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71732374C>T" "" "VUS" "ACMG" "0000377519" "1" "75" "10" "73537468" "73537468" "subst" "0" "02416" "CDH23_000351" "g.73537468A>C" "0/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23D1626A:} USMA-{MSV3dQ9H251p.Asp1626Ala:}" "+BspCNI;+CviKI_1;+DdeI;-BtsCI;-FokI;" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71777711A>C" "" "VUS" "ACMG" "0000377520" "10" "75" "10" "73537468" "73537468" "subst" "0" "02425" "CDH23_000351" "g.73537468A>C" "" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23D1626A:} USMA-{MSV3dQ9H251p.Asp1626Ala:}" "+BspCNI;+CviKI_1;+DdeI;-BtsCI;-FokI;" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71777711A>C" "" "VUS" "ACMG" "0000377521" "10" "75" "10" "73537468" "73537468" "subst" "0" "02425" "CDH23_000351" "g.73537468A>C" "" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23D1626A:} USMA-{MSV3dQ9H251p.Asp1626Ala:}" "+BspCNI;+CviKI_1;+DdeI;-BtsCI;-FokI;" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71777711A>C" "" "VUS" "ACMG" "0000377522" "2" "75" "10" "73464800" "73464800" "subst" "3.28383E-5" "02416" "CDH23_000352" "g.73464800G>A" "0/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23E956K:} USMA-{MSV3dQ9H251p.Glu956Lys:}" "+BcgI" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71705043G>A" "" "VUS" "ACMG" "0000377523" "0" "75" "10" "73464800" "73464800" "subst" "3.28383E-5" "02425" "CDH23_000352" "g.73464800G>A" "0/384 controls" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23E956K:} USMA-{MSV3dQ9H251p.Glu956Lys:}" "+BcgI" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71705043G>A" "" "VUS" "ACMG" "0000377524" "2" "75" "10" "73558142" "73558142" "subst" "0" "02416" "CDH23_000353" "g.73558142T>G" "0/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23N2287K:} USMA-{MSV3dQ9H251p.Asn2287Lys:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71798385T>G" "" "VUS" "ACMG" "0000377525" "2" "75" "10" "73558142" "73558142" "subst" "0" "02416" "CDH23_000353" "g.73558142T>G" "0/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23N2287K:} USMA-{MSV3dQ9H251p.Asn2287Lys:}" "" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71798385T>G" "" "VUS" "ACMG" "0000377526" "2" "75" "10" "73559336" "73559336" "subst" "4.06128E-6" "02416" "CDH23_000354" "g.73559336G>A" "0/384 controls" "{PMID:Miyagawa 2012:22899989}; USMA-{USMACDH23E2438K:} USMA-{MSV3dQ9H251p.Glu2438Lys:}" "+MseI" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71799579G>A" "" "VUS" "ACMG" "0000377527" "21" "75" "10" "73559336" "73559336" "subst" "4.06128E-6" "02425" "CDH23_000354" "g.73559336G>A" "" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23E2438K:} USMA-{MSV3dQ9H251p.Glu2438Lys:}" "+MseI" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71799579G>A" "" "VUS" "ACMG" "0000377528" "21" "75" "10" "73559336" "73559336" "subst" "4.06128E-6" "02425" "CDH23_000354" "g.73559336G>A" "" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23E2438K:} USMA-{MSV3dQ9H251p.Glu2438Lys:}" "+MseI" "" "heterozygous; Possible pathologic" "Germline" "" "" "0" "" "" "g.71799579G>A" "" "VUS" "ACMG" "0000377529" "10" "99" "10" "73559034" "73559034" "subst" "0" "02416" "CDH23_000355" "g.73559034C>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-BstXI;-SexAI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71799277C>A" "" "pathogenic" "" "0000377530" "20" "99" "10" "73559034" "73559034" "subst" "0" "02416" "CDH23_000355" "g.73559034C>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-BstXI;-SexAI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.71799277C>A" "" "pathogenic" "" "0000377531" "0" "75" "10" "73574874" "73574874" "subst" "5.02694E-5" "02416" "CDH23_000356" "g.73574874G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMACDH23E3302K:} USMA-{MSV3dQ9H251p.Glu3302Lys:}" "+StyI;-AvaI;-BsoBI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71815117G>A" "" "VUS" "ACMG" "0000377532" "10" "95" "10" "73571352" "73571352" "subst" "0" "02416" "CDH23_000357" "g.73571352G>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+Tsp45I" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71811595G>C" "" "likely pathogenic" "ACMG" "0000377533" "20" "95" "10" "73571352" "73571352" "subst" "0" "02416" "CDH23_000357" "g.73571352G>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+Tsp45I" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71811595G>C" "" "likely pathogenic" "ACMG" "0000377534" "21" "99" "10" "73537606" "73537607" "del" "0" "02416" "CDH23_000358" "g.73537606_73537607del" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BfuAI;+BspMI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71777849_71777850del" "" "pathogenic" "" "0000377535" "21" "99" "10" "73537606" "73537607" "del" "0" "02416" "CDH23_000358" "g.73537606_73537607del" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BfuAI;+BspMI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71777849_71777850del" "" "pathogenic" "" "0000377536" "10" "99" "10" "73556978" "73556978" "subst" "0" "02416" "CDH23_000359" "g.73556978G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71797221G>A" "" "likely pathogenic" "ACMG" "0000377537" "11" "99" "10" "73556978" "73556978" "subst" "0" "02416" "CDH23_000359" "g.73556978G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71797221G>A" "" "pathogenic" "" "0000377538" "11" "99" "10" "73556978" "73556978" "subst" "0" "02416" "CDH23_000359" "g.73556978G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71797221G>A" "" "pathogenic" "" "0000377539" "20" "99" "10" "73556978" "73556978" "subst" "0" "02416" "CDH23_000359" "g.73556978G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71797221G>A" "" "likely pathogenic" "ACMG" "0000377540" "0" "15" "10" "73537482" "73537482" "subst" "3.268E-5" "02416" "CDH23_000360" "g.73537482G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMACDH23A1631T:} USMA-{MSV3dQ9H251p.Ala1631Thr:}" "+MslI;-BstUI;-HhaI;-HinP1I;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71777725G>A" "" "likely benign" "ACMG" "0000377541" "0" "35" "10" "73571510" "73571510" "subst" "0" "02416" "CDH23_000361" "g.73571510G>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMACDH23G3107W:} USMA-{MSV3dQ9H251p.Gly3107Trp:}" "-MspA1I;-PvuII;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71811753G>T" "" "likely benign" "ACMG" "0000377542" "0" "75" "10" "73492023" "73492023" "subst" "0" "02416" "CDH23_000362" "g.73492023T>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMACDH23I1332S:} USMA-{MSV3dQ9H251p.Ile1332Ser:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71732266T>G" "" "VUS" "ACMG" "0000377543" "21" "75" "10" "73493995" "73493995" "subst" "8.51876E-6" "02416" "CDH23_000363" "g.73493995A>T" "" "{PMID:Glöcke 2013:23591405}" "+BseYI;-HpyCH4V;-PstI;-SbfI;-SfcI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71734238A>T" "" "VUS" "ACMG" "0000377544" "21" "15" "10" "73493993" "73493993" "subst" "0" "02416" "CDH23_000364" "g.73493993G>T" "" "{PMID:Glöcke 2013:23591405}" "+AcuI;-HpyCH4V;-PstI;-SbfI;-SfcI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71734236G>T" "" "likely benign" "ACMG" "0000377545" "10" "35" "10" "73537449" "73537449" "subst" "0.0173057" "02416" "CDH23_000365" "g.73537449G>A" "" "{PMID:Glöcke 2013:23591405}; USMA-{USMACDH23V1620M:} USMA-{MSV3dQ9H251p.Val1620Met:}" "+CviAII;+FatI;+NlaIII;-AleI;-Hpy166II;-PmlI;" "" "homozygous; pathogenicity unclear" "Germline" "" "rs41281330" "0" "" "" "g.71777692G>A" "" "likely benign" "ACMG" "0000377546" "20" "35" "10" "73537449" "73537449" "subst" "0.0173057" "02416" "CDH23_000365" "g.73537449G>A" "" "{PMID:Glöcke 2013:23591405}; USMA-{USMACDH23V1620M:} USMA-{MSV3dQ9H251p.Val1620Met:}" "+CviAII;+FatI;+NlaIII;-AleI;-Hpy166II;-PmlI;" "" "homozygous; pathogenicity unclear" "Germline" "" "rs41281330" "0" "" "" "g.71777692G>A" "" "likely benign" "ACMG" "0000377547" "0" "15" "10" "73269949" "73269949" "subst" "9.75221E-5" "02416" "CDH23_000366" "g.73269949G>A" "" "{PMID:Glöcke 2013:23591405}; USMA-{USMACDH23V86M:} USMA-{MSV3dQ9H251p.Val86Met:}" "+CviAII;+FatI;+NlaIII;-AleI;" "" "heterozygous; polymorphism" "Germline" "" "rs200085829" "0" "" "" "g.71510192G>A" "" "likely benign" "ACMG" "0000377548" "0" "75" "10" "73464686" "73464686" "subst" "0" "02416" "CDH23_000367" "g.73464686G>C" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{USMACDH23D918H:} USMA-{MSV3dQ9H251p.Asp918His:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71704929G>C" "" "VUS" "ACMG" "0000377549" "0" "75" "10" "73553291" "73553291" "subst" "0" "02416" "CDH23_000368" "g.73553291C>A" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{USMACDH23D2202E:} USMA-{MSV3dQ9H251p.Asp2202Glu:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71793534C>A" "" "VUS" "ACMG" "0000377550" "0" "75" "10" "73553291" "73553291" "subst" "0" "02425" "CDH23_000368" "g.73553291C>A" "0/190 controls" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23D2202E:} USMA-{MSV3dQ9H251p.Asp2202Glu:}" "" "" "heterozygous; uncertain" "Germline" "" "" "0" "" "" "g.71793534C>A" "" "VUS" "ACMG" "0000377551" "0" "15" "10" "73562802" "73562802" "subst" "0" "02416" "CDH23_000369" "g.73562802T>G" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{USMACDH23L2544V:} USMA-{MSV3dQ9H251p.(Leu2544Val:}" "" "" "heterozygous; Mutation" "Germline" "" "rs114819374" "0" "" "" "g.71803045T>G" "" "likely benign" "ACMG" "0000377552" "0" "75" "10" "73567112" "73567112" "subst" "4.48124E-5" "02416" "CDH23_000370" "g.73567112G>A" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{USMACDH23A2753T:} USMA-{MSV3dQ9H251p.Ala2753Thr:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.71807355G>A" "" "VUS" "ACMG" "0000377553" "10" "99" "10" "73269886" "73269886" "dup" "0" "02416" "CDH23_000371" "g.73269886dup" "0/96 controls" "{PMID:Ganapathy 2014:24416283}" "" "189_190insC" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71510129dup" "" "pathogenic" "" "0000377554" "10" "99" "10" "73269886" "73269886" "dup" "0" "02416" "CDH23_000371" "g.73269886dup" "0/96 controls" "{PMID:Ganapathy 2014:24416283}" "" "189_190insC" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71510129dup" "" "pathogenic" "" "0000377555" "20" "99" "10" "73269886" "73269886" "dup" "0" "02416" "CDH23_000371" "g.73269886dup" "0/96 controls" "{PMID:Ganapathy 2014:24416283}" "" "189_190insC" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71510129dup" "" "pathogenic" "" "0000377556" "20" "99" "10" "73269886" "73269886" "dup" "0" "02416" "CDH23_000371" "g.73269886dup" "0/96 controls" "{PMID:Ganapathy 2014:24416283}" "" "189_190insC" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71510129dup" "" "pathogenic" "" "0000377557" "11" "35" "10" "73270955" "73270955" "subst" "8.52896E-5" "02416" "CDH23_000372" "g.73270955G>A" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23V139I:} USMA-{MSV3dQ9H251p.Val139Ile:}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71511198G>A" "" "likely benign" "ACMG" "0000377558" "11" "35" "10" "73270955" "73270955" "subst" "8.52896E-5" "02416" "CDH23_000372" "g.73270955G>A" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23V139I:} USMA-{MSV3dQ9H251p.Val139Ile:}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71511198G>A" "" "likely benign" "ACMG" "0000377559" "21" "35" "10" "73562752" "73562752" "subst" "2.03074E-5" "02416" "CDH23_000373" "g.73562752C>T" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23S2527L:} USMA-{MSV3dQ9H251p.Ser2527Leu:}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71802995C>T" "" "likely benign" "ACMG" "0000377560" "21" "35" "10" "73562752" "73562752" "subst" "2.03074E-5" "02416" "CDH23_000373" "g.73562752C>T" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23S2527L:} USMA-{MSV3dQ9H251p.Ser2527Leu:}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71802995C>T" "" "likely benign" "ACMG" "0000377561" "10" "75" "10" "73464686" "73464686" "subst" "8.19726E-6" "02416" "CDH23_000374" "g.73464686G>A" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23D918N:} USMA-{MSV3dQ9H251p.Asp918Asn:}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71704929G>A" "" "VUS" "ACMG" "0000377562" "10" "75" "10" "73464686" "73464686" "subst" "8.19726E-6" "02416" "CDH23_000374" "g.73464686G>A" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23D918N:} USMA-{MSV3dQ9H251p.Asp918Asn:}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71704929G>A" "" "VUS" "ACMG" "0000377563" "20" "75" "10" "73464686" "73464686" "subst" "8.19726E-6" "02416" "CDH23_000374" "g.73464686G>A" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23D918N:} USMA-{MSV3dQ9H251p.Asp918Asn:}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71704929G>A" "" "VUS" "ACMG" "0000377564" "20" "75" "10" "73464686" "73464686" "subst" "8.19726E-6" "02416" "CDH23_000374" "g.73464686G>A" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23D918N:} USMA-{MSV3dQ9H251p.Asp918Asn:}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71704929G>A" "" "VUS" "ACMG" "0000377565" "10" "75" "10" "73537979" "73537979" "subst" "1.62443E-5" "02416" "CDH23_000375" "g.73537979G>A" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23E1701K:} USMA-{MSV3dQ9H251p.Glu1701Lys:}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71778222G>A" "" "VUS" "ACMG" "0000377566" "10" "75" "10" "73537979" "73537979" "subst" "1.62443E-5" "02416" "CDH23_000375" "g.73537979G>A" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23E1701K:} USMA-{MSV3dQ9H251p.Glu1701Lys:}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71778222G>A" "" "VUS" "ACMG" "0000377567" "20" "75" "10" "73537979" "73537979" "subst" "1.62443E-5" "02416" "CDH23_000375" "g.73537979G>A" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23E1701K:} USMA-{MSV3dQ9H251p.Glu1701Lys:}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71778222G>A" "" "VUS" "ACMG" "0000377568" "20" "75" "10" "73537979" "73537979" "subst" "1.62443E-5" "02416" "CDH23_000375" "g.73537979G>A" "0/96 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMACDH23E1701K:} USMA-{MSV3dQ9H251p.Glu1701Lys:}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.71778222G>A" "" "VUS" "ACMG" "0000377569" "11" "75" "10" "73270973" "73270973" "subst" "0.00154737" "02416" "CDH23_000376" "g.73270973G>A" "0/96 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "" "0" "" "" "g.71511216G>A" "" "VUS" "ACMG" "0000377570" "11" "75" "10" "73270973" "73270973" "subst" "0.00154737" "02416" "CDH23_000376" "g.73270973G>A" "0/96 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "" "0" "" "" "g.71511216G>A" "" "VUS" "ACMG" "0000377571" "10" "99" "10" "73485265" "73485265" "del" "0" "02416" "CDH23_000377" "g.73485265del" "" "{PMID:Yoshimura 2014:24618850}" "" "p.Arg1189ArgfsX5" "homozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.71725508del" "" "pathogenic" "" "0000377572" "20" "99" "10" "73485265" "73485265" "del" "0" "02416" "CDH23_000377" "g.73485265del" "" "{PMID:Yoshimura 2014:24618850}" "" "p.Arg1189ArgfsX5" "homozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.71725508del" "" "pathogenic" "" "0000377573" "1" "99" "10" "73545455" "73545456" "del" "0" "02416" "CDH23_000378" "g.73545455_73545456del" "" "{PMID:Yoshimura 2014:24618850}" "" "" "heterozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.71785698_71785699del" "" "pathogenic" "" "0000377574" "0" "35" "10" "73461949" "73461949" "subst" "0.00649732" "02416" "CDH23_000379" "g.73461949C>G" "" "{PMID:Yoshimura 2014:24618850}; USMA-{USMACDH23I856M:} USMA-{MSV3dQ9H251p.Ile856Met:}" "" "" "heterozygous; possible pathogenic" "Germline" "" "rs188498736" "0" "" "" "g.71702192C>G" "" "likely benign" "ACMG" "0000377575" "0" "11" "10" "73472868" "73472868" "subst" "0.316144" "02416" "CDH23_000380" "g.73472868C>G" "" "{PMID:Rong 2014:24831256}" "" "chr10:g.73472868C>G-c.3432C>G-p.S1144R in ENST00000224721" "heterozygous; non causative" "Germline" "" "rs2394838" "0" "" "" "g.71713111C>G" "" "benign" "" "0000377576" "0" "11" "10" "73472882" "73472882" "subst" "0.313928" "02416" "CDH23_000381" "g.73472882C>T" "" "{PMID:Rong 2014:24831256}" "" "chr10:g.73472882C>T-c.3446C>T-p.T1149M in ENST00000224721" "heterozygous; non causative" "Germline" "" "rs2166631" "0" "" "" "g.71713125C>T" "" "benign" "" "0000377577" "10" "99" "10" "73569657" "73569657" "subst" "0" "00764" "CDH23_000382" "g.73569657C>T" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71809900C>T" "" "pathogenic" "" "0000377578" "10" "99" "10" "73569657" "73569657" "subst" "0" "00764" "CDH23_000382" "g.73569657C>T" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71809900C>T" "" "pathogenic" "" "0000377579" "20" "99" "10" "73569657" "73569657" "subst" "0" "00764" "CDH23_000382" "g.73569657C>T" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71809900C>T" "" "pathogenic" "" "0000377580" "20" "99" "10" "73569657" "73569657" "subst" "0" "00764" "CDH23_000382" "g.73569657C>T" "" "{PMID:Reddy 2014:25211151}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71809900C>T" "" "pathogenic" "" "0000377581" "10" "75" "10" "73377052" "73377052" "subst" "0" "02416" "CDH23_000383" "g.73377052C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P346S:} USMA-{MSV3dQ9H251p.Pro346Ser:}" "" "1427C>T - P346S" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617295C>T" "" "VUS" "ACMG" "0000377582" "10" "75" "10" "73377052" "73377052" "subst" "0" "02416" "CDH23_000383" "g.73377052C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P346S:} USMA-{MSV3dQ9H251p.Pro346Ser:}" "" "1427C>T - P346S" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617295C>T" "" "VUS" "ACMG" "0000377583" "10" "75" "10" "73377052" "73377052" "subst" "0" "02416" "CDH23_000383" "g.73377052C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P346S:} USMA-{MSV3dQ9H251p.Pro346Ser:}" "" "1427C>T - P346S" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617295C>T" "" "VUS" "ACMG" "0000377584" "10" "75" "10" "73377052" "73377052" "subst" "0" "02416" "CDH23_000383" "g.73377052C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P346S:} USMA-{MSV3dQ9H251p.Pro346Ser:}" "" "1427C>T - P346S" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617295C>T" "" "VUS" "ACMG" "0000377585" "10" "75" "10" "73377052" "73377052" "subst" "0" "02416" "CDH23_000383" "g.73377052C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P346S:} USMA-{MSV3dQ9H251p.Pro346Ser:}" "" "1427C>T - P346S" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617295C>T" "" "VUS" "ACMG" "0000377586" "20" "75" "10" "73377052" "73377052" "subst" "0" "02416" "CDH23_000383" "g.73377052C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P346S:} USMA-{MSV3dQ9H251p.Pro346Ser:}" "" "1427C>T - P346S" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617295C>T" "" "VUS" "ACMG" "0000377587" "20" "75" "10" "73377052" "73377052" "subst" "0" "02416" "CDH23_000383" "g.73377052C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P346S:} USMA-{MSV3dQ9H251p.Pro346Ser:}" "" "1427C>T - P346S" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617295C>T" "" "VUS" "ACMG" "0000377588" "20" "75" "10" "73377052" "73377052" "subst" "0" "02416" "CDH23_000383" "g.73377052C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P346S:} USMA-{MSV3dQ9H251p.Pro346Ser:}" "" "1427C>T - P346S" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617295C>T" "" "VUS" "ACMG" "0000377589" "20" "75" "10" "73377052" "73377052" "subst" "0" "02416" "CDH23_000383" "g.73377052C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P346S:} USMA-{MSV3dQ9H251p.Pro346Ser:}" "" "1427C>T - P346S" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617295C>T" "" "VUS" "ACMG" "0000377590" "20" "75" "10" "73377052" "73377052" "subst" "0" "02416" "CDH23_000383" "g.73377052C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P346S:} USMA-{MSV3dQ9H251p.Pro346Ser:}" "" "1427C>T - P346S" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617295C>T" "" "VUS" "ACMG" "0000377591" "10" "75" "10" "73437373" "73437373" "subst" "0" "02416" "CDH23_000384" "g.73437373C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P559S:} USMA-{MSV3dQ9H251p.Pro559Ser:}" "" "c.2065C>T - P559S" "homozygous; proband; deleterious" "Germline" "" "" "0" "" "" "g.71677616C>T" "" "likely pathogenic" "" "0000377592" "10" "75" "10" "73437373" "73437373" "subst" "0" "02416" "CDH23_000384" "g.73437373C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P559S:} USMA-{MSV3dQ9H251p.Pro559Ser:}" "" "c.2065C>T - P559S" "homozygous; proband; deleterious" "Germline" "" "" "0" "" "" "g.71677616C>T" "" "likely pathogenic" "" "0000377593" "10" "75" "10" "73437373" "73437373" "subst" "0" "02416" "CDH23_000384" "g.73437373C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P559S:} USMA-{MSV3dQ9H251p.Pro559Ser:}" "" "c.2065C>T - P559S" "homozygous; proband; deleterious" "Germline" "" "" "0" "" "" "g.71677616C>T" "" "likely pathogenic" "" "0000377594" "10" "75" "10" "73437373" "73437373" "subst" "0" "02416" "CDH23_000384" "g.73437373C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P559S:} USMA-{MSV3dQ9H251p.Pro559Ser:}" "" "c.2065C>T - P559S" "homozygous; proband; deleterious" "Germline" "" "" "0" "" "" "g.71677616C>T" "" "likely pathogenic" "" "0000377595" "20" "75" "10" "73437373" "73437373" "subst" "0" "02416" "CDH23_000384" "g.73437373C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P559S:} USMA-{MSV3dQ9H251p.Pro559Ser:}" "" "c.2065C>T - P559S" "homozygous; proband; deleterious" "Germline" "" "" "0" "" "" "g.71677616C>T" "" "likely pathogenic" "" "0000377596" "20" "75" "10" "73437373" "73437373" "subst" "0" "02416" "CDH23_000384" "g.73437373C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P559S:} USMA-{MSV3dQ9H251p.Pro559Ser:}" "" "c.2065C>T - P559S" "homozygous; proband; deleterious" "Germline" "" "" "0" "" "" "g.71677616C>T" "" "likely pathogenic" "" "0000377597" "20" "75" "10" "73437373" "73437373" "subst" "0" "02416" "CDH23_000384" "g.73437373C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P559S:} USMA-{MSV3dQ9H251p.Pro559Ser:}" "" "c.2065C>T - P559S" "homozygous; proband; deleterious" "Germline" "" "" "0" "" "" "g.71677616C>T" "" "likely pathogenic" "" "0000377598" "20" "75" "10" "73437373" "73437373" "subst" "0" "02416" "CDH23_000384" "g.73437373C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMACDH23P559S:} USMA-{MSV3dQ9H251p.Pro559Ser:}" "" "c.2065C>T - P559S" "homozygous; proband; deleterious" "Germline" "" "" "0" "" "" "g.71677616C>T" "" "likely pathogenic" "" "0000377599" "10" "75" "10" "73377053" "73377053" "subst" "1.62443E-5" "02416" "CDH23_000385" "g.73377053C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMAUSH2AP346L:} USMA-{MSV3dQ9H251p.Pro346Leu:}" "" "1428C>T - P346L" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617296C>T" "" "VUS" "ACMG" "0000377600" "10" "75" "10" "73377053" "73377053" "subst" "1.62443E-5" "02416" "CDH23_000385" "g.73377053C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMAUSH2AP346L:} USMA-{MSV3dQ9H251p.Pro346Leu:}" "" "1428C>T - P346L" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617296C>T" "" "VUS" "ACMG" "0000377601" "10" "75" "10" "73377053" "73377053" "subst" "1.62443E-5" "02416" "CDH23_000385" "g.73377053C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMAUSH2AP346L:} USMA-{MSV3dQ9H251p.Pro346Leu:}" "" "1428C>T - P346L" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617296C>T" "" "VUS" "ACMG" "0000377602" "20" "75" "10" "73377053" "73377053" "subst" "1.62443E-5" "02416" "CDH23_000385" "g.73377053C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMAUSH2AP346L:} USMA-{MSV3dQ9H251p.Pro346Leu:}" "" "1428C>T - P346L" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617296C>T" "" "VUS" "ACMG" "0000377603" "20" "75" "10" "73377053" "73377053" "subst" "1.62443E-5" "02416" "CDH23_000385" "g.73377053C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMAUSH2AP346L:} USMA-{MSV3dQ9H251p.Pro346Leu:}" "" "1428C>T - P346L" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617296C>T" "" "VUS" "ACMG" "0000377604" "20" "75" "10" "73377053" "73377053" "subst" "1.62443E-5" "02416" "CDH23_000385" "g.73377053C>T" "" "{PMID:Shahin 2014:19888295}; USMA-{USMAUSH2AP346L:} USMA-{MSV3dQ9H251p.Pro346Leu:}" "" "1428C>T - P346L" "homozygous; deleterious" "Germline" "" "" "0" "" "" "g.71617296C>T" "" "VUS" "ACMG" "0000377605" "0" "75" "10" "73375299" "73375299" "subst" "4.06151E-6" "02417" "CDH23_000386" "g.73375299G>A" "" "{PMID:Aparisi 2014:25404053}; USMA-{USMACDH23G291R:} USMA-{MSV3dQ9H251p.Gly291Arg:}" "" "" "heterozygous; UV3" "Germline" "" "rs767343063" "0" "" "" "g.71615542G>A" "" "VUS" "ACMG" "0000377606" "10" "75" "10" "73375299" "73375299" "subst" "4.06151E-6" "02428" "CDH23_000386" "g.73375299G>A" "" "Abdi accepted in Plos One; USMA-{USMACDH23:G291R} USMA-{MSV3dQ9H251:p.Gly291Arg}" "" "" "homozygous" "Germline" "" "rs767343063" "0" "" "" "g.71615542G>A" "" "VUS" "ACMG" "0000377607" "20" "75" "10" "73375299" "73375299" "subst" "4.06151E-6" "02428" "CDH23_000386" "g.73375299G>A" "" "Abdi accepted in Plos One; USMA-{USMACDH23:G291R} USMA-{MSV3dQ9H251:p.Gly291Arg}" "" "" "homozygous" "Germline" "" "rs767343063" "0" "" "" "g.71615542G>A" "" "VUS" "ACMG" "0000377608" "0" "99" "10" "73483801" "73483863" "dup" "0" "02416" "CDH23_000387" "g.(73472571_73483801)_(73483863_73485128)dup" "" "{PMID:Aparisi 2014:25404053}" "" "3370-?_3430+?dup" "heterozygous; UV4" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377609" "0" "75" "10" "73572583" "73572583" "subst" "0.000326344" "02416" "CDH23_000388" "g.73572583C>T" "" "{PMID:Aparisi 2014:25404053}; USMA-{USMACDH23A3190V:} USMA-{MSV3dQ9H251p.Ala3190Val:}" "" "" "heterozygous; UV3" "Germline" "" "rs111033536" "0" "" "" "g.71812826C>T" "" "VUS" "ACMG" "0000377610" "1" "99" "10" "73537944" "73537944" "subst" "0" "02417" "CDH23_000389" "g.73537944A>T" "" "{PMID:Aparisi 2014:25404053}" "" "" "heterozygous; UV4" "Germline" "" "" "0" "" "" "g.71778187A>T" "" "pathogenic" "" "0000377611" "0" "35" "10" "73406348" "73406348" "subst" "0.00321661" "02416" "CDH23_000390" "g.73406348G>A" "" "{PMID:Licastro 2012:22952768}; USMA-{USMACDH23V475M:} USMA-{MSV3dQ9H251p.Val475Met:}" "" "1423G>C - p.V475M" "heterozygous" "Germline" "" "rs62622410" "0" "" "" "g.71646591G>A" "" "likely benign" "ACMG" "0000377612" "11" "35" "10" "73464873" "73464873" "subst" "8.77508E-5" "02416" "CDH23_000391" "g.73464873C>T" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMACDH23T980M:} USMA-{MSV3dQ9H251p.Thr980Met:}" "" "" "heterozygous; mutation" "Germline" "" "rs535416598" "0" "" "" "g.71705116C>T" "" "likely benign" "ACMG" "0000377613" "11" "35" "10" "73464873" "73464873" "subst" "8.77508E-5" "02416" "CDH23_000391" "g.73464873C>T" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMACDH23T980M:} USMA-{MSV3dQ9H251p.Thr980Met:}" "" "" "heterozygous; mutation" "Germline" "" "rs535416598" "0" "" "" "g.71705116C>T" "" "likely benign" "ACMG" "0000377614" "10" "99" "10" "73462348" "73462351" "del" "0" "02416" "CDH23_000392" "g.73462348_73462351del" "" "{PMID:Bujakowska 2014:25468891}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71702591_71702594del" "" "pathogenic" "" "0000377615" "20" "99" "10" "73462348" "73462351" "del" "0" "02416" "CDH23_000392" "g.73462348_73462351del" "" "{PMID:Bujakowska 2014:25468891}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71702591_71702594del" "" "pathogenic" "" "0000377616" "0" "75" "10" "73565689" "73565689" "subst" "0.000236934" "02416" "CDH23_000393" "g.73565689G>C" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMACDH23D2667H:} USMA-{MSV3dQ9H251p.Asp2667His:}" "" "" "heterozygous" "Germline" "" "rs200251748" "0" "" "" "g.71805932G>C" "" "VUS" "ACMG" "0000377617" "10" "99" "10" "73559247" "73559247" "subst" "0" "02416" "CDH23_000394" "g.73559247A>G" "" "{PMID:Bujakowska 2014:25468891}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71799490A>G" "" "pathogenic" "" "0000377618" "20" "99" "10" "73559247" "73559247" "subst" "0" "02416" "CDH23_000394" "g.73559247A>G" "" "{PMID:Bujakowska 2014:25468891}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71799490A>G" "" "pathogenic" "" "0000377619" "0" "35" "10" "73492014" "73492014" "subst" "0.000305342" "02416" "CDH23_000395" "g.73492014G>A" "" "{PMID:Bujakowska 2014:25468891}; USMA-{USMACDH23G1329D:} USMA-{MSV3dQ9H251p.Gly1329Asp:}" "" "" "heterozygous" "Germline" "" "rs201877610" "0" "" "" "g.71732257G>A" "" "likely benign" "ACMG" "0000377620" "11" "99" "10" "73563176" "73563177" "del" "0" "02416" "CDH23_000396" "g.73563176_73563177del" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71803419_71803420del" "" "pathogenic" "" "0000377621" "11" "99" "10" "73563176" "73563177" "del" "0" "02416" "CDH23_000396" "g.73563176_73563177del" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71803419_71803420del" "" "pathogenic" "" "0000377622" "0" "75" "10" "73206158" "73206158" "subst" "0" "02416" "CDH23_000397" "g.73206158T>G" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "rs372660833" "0" "" "" "g.71446401T>G" "" "VUS" "ACMG" "0000377623" "0" "99" "10" "73375341" "73375341" "del" "0" "02416" "CDH23_000398" "g.73375341del" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71615584del" "" "pathogenic" "" "0000377624" "0" "99" "10" "73375362" "73375362" "del" "0" "02416" "CDH23_000399" "g.73375362del" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71615605del" "" "pathogenic" "" "0000377625" "0" "99" "10" "73461806" "73461806" "subst" "0" "02416" "CDH23_000400" "g.73461806G>T" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71702049G>T" "" "pathogenic" "" "0000377626" "0" "99" "10" "73461942" "73461942" "del" "0" "02416" "CDH23_000401" "g.73461942del" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71702185del" "" "pathogenic" "" "0000377627" "0" "99" "10" "73490301" "73490301" "subst" "0" "02416" "CDH23_000402" "g.73490301C>T" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71730544C>T" "" "pathogenic" "" "0000377628" "0" "35" "10" "73157046" "73157050" "dup" "0" "02416" "CDH23_000403" "g.73157046_73157050dup" "" "{PMID:Bujakowska 2014:25468891}" "" "48_-47insCGAGG" "heterozygous" "Germline" "" "rs147915565" "0" "" "" "g.71397289_71397293dup" "" "likely benign" "ACMG" "0000377629" "0" "35" "10" "73567584" "73567584" "subst" "0" "02416" "CDH23_000404" "g.73567584C>T" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71807827C>T" "" "likely benign" "ACMG" "0000377630" "10" "75" "10" "73437314" "73437314" "subst" "5.80547E-5" "02425" "CDH23_000405" "g.73437314G>A" "0/190 controls" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23G539D:} USMA-{MSV3dQ9H251c.1616G>A:}" "hmutai" "" "heterozygous; possible pathologic" "Germline" "" "rs121908354" "0" "" "" "g.71677557G>A" "" "VUS" "ACMG" "0000377631" "0" "75" "10" "73442277" "73442277" "subst" "0" "02425" "CDH23_000406" "g.73442277A>G" "0/192 controls" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23D645G:} USMA-{MSV3dQ9H251p.Asp645Gly:}" "hmutai" "" "heterozygous; possible pathologic" "Germline" "" "" "0" "" "" "g.71682520A>G" "" "VUS" "ACMG" "0000377632" "21" "99" "10" "73553352" "73553352" "del" "0" "02425" "CDH23_000407" "g.73553352del" "0/192 controls" "{PMID:Mizutari 2015:25963016}" "hmutai" "" "heterozygous; possible pathologic" "Germline" "" "" "0" "" "" "g.71793595del" "" "pathogenic" "" "0000377633" "21" "99" "10" "73553352" "73553352" "del" "0" "02425" "CDH23_000407" "g.73553352del" "0/192 controls" "{PMID:Mizutari 2015:25963016}" "hmutai" "" "heterozygous; possible pathologic" "Germline" "" "" "0" "" "" "g.71793595del" "" "pathogenic" "" "0000377634" "11" "99" "10" "73571123" "73571123" "del" "0" "02425" "CDH23_000408" "g.73571123del" "0/192 controls" "{PMID:Mizutari 2015:25963016}" "hmutai" "" "heterozygous; possible pathologic" "Germline" "" "" "0" "" "" "g.71811366del" "" "pathogenic" "" "0000377635" "11" "99" "10" "73571123" "73571123" "del" "0" "02425" "CDH23_000408" "g.73571123del" "0/192 controls" "{PMID:Mizutari 2015:25963016}" "hmutai" "" "heterozygous; possible pathologic" "Germline" "" "" "0" "" "" "g.71811366del" "" "pathogenic" "" "0000377636" "21" "75" "10" "73326553" "73326553" "subst" "0" "02416" "CDH23_000409" "g.73326553G>A" "" "{PMID:Lenarduzzi 2015:25575603}; USMA-{USMACDH23G162R:} USMA-{MSV3dQ9H251p.Gly162Arg:}" "" "" "heterozygous; UV3" "Germline" "" "" "0" "" "" "g.71566796G>A" "" "VUS" "ACMG" "0000377637" "11" "75" "10" "73571264" "73571264" "subst" "1.21913E-5" "02416" "CDH23_000410" "g.73571264G>A" "" "{PMID:Lenarduzzi 2015:25575603}" "" "IVS62-4G>A (NM_52836)" "heterozygous; UV3" "Germline" "" "rs369900526" "0" "" "" "g.71811507G>A" "" "VUS" "ACMG" "0000377638" "0" "35" "10" "73405717" "73405717" "subst" "0.000200116" "02425" "CDH23_000411" "g.73405717G>A" "0/190 controls" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23V424M:} USMA-{MSV3dQ9H251p.Val424Met:}" "hmutai" "" "heterozygous; uncertain" "Germline" "" "rs2305207" "0" "" "" "g.71645960G>A" "" "likely benign" "ACMG" "0000377639" "0" "35" "10" "73405729" "73405729" "subst" "0.000493454" "02416" "CDH23_000412" "g.73405729G>A" "2/128 controls" "{PMID:Woo 2014:24767429}; USMA-{USMACDH23D428N:} USMA-{MSV3dQ9H251p.Asp428Asn:}" "" "" "heterozygous; potential pathogenicity" "Germline" "" "rs188376296" "0" "" "" "g.71645972G>A" "" "likely benign" "ACMG" "0000377640" "10" "35" "10" "73405729" "73405729" "subst" "0.000493454" "02425" "CDH23_000412" "g.73405729G>A" "0/190 controls" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23D428N:} USMA-{MSV3dQ9H251p.Asp428Asn:}" "hmutai" "" "heterozygous; uncertain" "Germline" "" "rs188376296" "0" "" "" "g.71645972G>A" "" "likely benign" "ACMG" "0000377641" "0" "35" "10" "73405729" "73405729" "subst" "0.000493454" "02425" "CDH23_000412" "g.73405729G>A" "0/190 controls" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23D428N:} USMA-{MSV3dQ9H251p.Asp428Asn:}" "hmutai" "" "heterozygous; uncertain" "Germline" "" "rs188376296" "0" "" "" "g.71645972G>A" "" "likely benign" "ACMG" "0000377642" "21" "35" "10" "73574997" "73574997" "subst" "3.44098E-5" "02425" "CDH23_000413" "g.73574997G>A" "0/188 controls" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23V3343M:} USMA-{MSV3dQ9H251p.Val3343Met:}" "hmutai" "" "heterozygous; uncertain" "Germline" "" "" "0" "" "" "g.71815240G>A" "" "likely benign" "ACMG" "0000377643" "0" "35" "10" "73498261" "73498261" "subst" "4.46708E-5" "02425" "CDH23_000414" "g.73498261A>G" "1/189 controls" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23I1406V:} USMA-{MSV3dQ9H251p.Ile1406Val:}" "hmutai" "" "heterozygous; uncertain" "Germline" "" "rs192459984" "0" "" "" "g.71738504A>G" "" "likely benign" "ACMG" "0000377644" "0" "75" "10" "73501580" "73501580" "subst" "8.29896E-6" "02425" "CDH23_000415" "g.73501580G>A" "0/192 controls" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23G1583S:} USMA-{MSV3dQ9H251p.Gly1583Ser:}" "hmutai" "" "heterozygous; uncertain" "Germline" "" "" "0" "" "" "g.71741823G>A" "" "VUS" "ACMG" "0000377645" "21" "75" "10" "73544070" "73544070" "subst" "0" "02425" "CDH23_000416" "g.73544070G>T" "0/192 controls" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23G1799W:} USMA-{MSV3dQ9H251p.Gly1799Trp:}" "" "" "heterozygous; uncertain" "Germline" "" "" "0" "" "" "g.71784313G>T" "" "VUS" "ACMG" "0000377646" "0" "75" "10" "73566009" "73566009" "subst" "0" "02425" "CDH23_000417" "g.73566009G>A" "0/190 controls" "{PMID:Mizutari 2015:25963016}; USMA-{USMACDH23D2717N:} USMA-{MSV3dQ9H251p.Asp2717Asn:}" "hmutai" "" "heterozygous; uncertain" "Germline" "" "" "0" "" "" "g.71806252G>A" "" "VUS" "ACMG" "0000377647" "0" "75" "10" "73206072" "73206072" "subst" "0.000552365" "02425" "CDH23_000418" "g.73206072C>T" "0/188 controls" "{PMID:Mizutari 2015:25963016}" "hmutai" "" "heterozygous; uncertain" "Germline" "" "rs142456469" "0" "" "" "g.71446315C>T" "" "VUS" "ACMG" "0000377648" "0" "35" "10" "73330542" "73330542" "subst" "4.29288E-6" "02425" "CDH23_000419" "g.73330542C>T" "0/192 controls" "{PMID:Mizutari 2015:25963016}" "hmutai" "" "heterozygous; uncertain" "Germline" "" "" "0" "" "" "g.71570785C>T" "" "likely benign" "ACMG" "0000377649" "0" "99" "10" "73403617" "73403617" "subst" "0" "02425" "CDH23_000420" "g.73403617G>T" "0/192 controls" "{PMID:Mizutari 2015:25963016}" "hmutai" "" "heterozygous; pathogenic" "Germline" "" "" "0" "" "" "g.71643860G>T" "" "pathogenic" "" "0000377650" "0" "35" "10" "73559396" "73559396" "subst" "1.62504E-5" "02425" "CDH23_000421" "g.73559396G>A" "0/192 controls" "{PMID:Mizutari 2015:25963016}" "hmutai" "" "heterozygous; uncertain" "Germline" "" "" "0" "" "" "g.71799639G>A" "" "likely benign" "ACMG" "0000377651" "10" "75" "10" "73377041" "73377041" "subst" "0" "02416" "CDH23_000422" "g.73377041A>G" "" "{PMID:Woo 2014:24767429}; USMA-{USMACDH23N342S:} USMA-{MSV3dQ9H251p.Asn342Ser:}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71617284A>G" "" "VUS" "ACMG" "0000377652" "20" "75" "10" "73377041" "73377041" "subst" "0" "02416" "CDH23_000422" "g.73377041A>G" "" "{PMID:Woo 2014:24767429}; USMA-{USMACDH23N342S:} USMA-{MSV3dQ9H251p.Asn342Ser:}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71617284A>G" "" "VUS" "ACMG" "0000377653" "0" "99" "10" "73337715" "73337715" "del" "0" "02416" "CDH23_000423" "g.73337715del" "" "{PMID:Woo 2014:24767429}" "" "" "heterozygous; potential pathogenicity" "Germline" "" "" "0" "" "" "g.71577958del" "" "pathogenic" "" "0000377654" "0" "35" "10" "73464825" "73464825" "subst" "0.000222391" "02416" "CDH23_000424" "g.73464825G>A" "0/128 controls" "{PMID:Woo 2014:24767429}; USMA-{USMACDH23R964Q:} USMA-{MSV3dQ9H251p.Arg964Gln:}" "" "" "heterozygous; potential pathogenicity" "Germline" "" "rs376560330" "0" "" "" "g.71705068G>A" "" "likely benign" "ACMG" "0000377655" "0" "35" "10" "73472553" "73472553" "subst" "0.000433734" "02416" "CDH23_000425" "g.73472553G>A" "" "{PMID:Woo 2014:24767429}; USMA-{USMACDH23G1118S:} USMA-{MSV3dQ9H251p.Gly1118Ser:}" "" "" "heterozygous; potential pathogenicity" "Germline" "" "rs562052236" "0" "" "" "g.71712796G>A" "" "likely benign" "ACMG" "0000377656" "1" "99" "10" "73571302" "73571303" "del" "0" "02428" "CDH23_000426" "g.73571302_73571303del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71811545_71811546del" "" "pathogenic" "" "0000377657" "2" "99" "10" "73326498" "73337750" "dup" "0" "02428" "CDH23_000427" "g.(73270970_73326498)_(73337750_73375260)dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377658" "2" "99" "10" "73461947" "73461947" "dup" "0" "02428" "CDH23_000428" "g.73461947dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71702190dup" "" "pathogenic" "" "0000377659" "2" "99" "10" "73270710" "73270759" "del" "0" "02428" "CDH23_000429" "g.(73269982_73270710)_(73270759_73270876)del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377660" "10" "99" "10" "73405599" "73405599" "subst" "0" "02428" "CDH23_000430" "g.73405599C>A" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23S384R:} USMA-{MSV3dQ9H251p.Ser384Arg:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71645842C>A" "" "pathogenic" "" "0000377661" "20" "99" "10" "73405599" "73405599" "subst" "0" "02428" "CDH23_000430" "g.73405599C>A" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23S384R:} USMA-{MSV3dQ9H251p.Ser384Arg:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71645842C>A" "" "pathogenic" "" "0000377662" "10" "99" "10" "73491849" "73491849" "subst" "0" "02428" "CDH23_000431" "g.73491849A>T" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23E1274V:} USMA-{MSV3dQ9H251p.Glu1274Val :}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71732092A>T" "" "pathogenic" "" "0000377663" "20" "99" "10" "73491849" "73491849" "subst" "0" "02428" "CDH23_000431" "g.73491849A>T" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23E1274V:} USMA-{MSV3dQ9H251p.Glu1274Val:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71732092A>T" "" "pathogenic" "" "0000377664" "1" "99" "10" "73539128" "73539128" "subst" "0" "02428" "CDH23_000432" "g.73539128G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71779371G>A" "" "pathogenic" "" "0000377665" "21" "99" "10" "73326547" "73326547" "subst" "4.07017E-6" "02428" "CDH23_000433" "g.73326547G>A" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23D160N:} USMA-{MSV3dQ9H251p.Asp160Asn:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71566790G>A" "" "pathogenic" "" "0000377666" "11" "99" "10" "73326547" "73326547" "subst" "4.07017E-6" "02428" "CDH23_000433" "g.73326547G>A" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23D160N:} USMA-{MSV3dQ9H251p.Asp160Asn:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71566790G>A" "" "pathogenic" "" "0000377667" "0" "99" "10" "73553081" "73553081" "del" "0" "02428" "CDH23_000434" "g.73553081del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71793324del" "" "pathogenic" "" "0000377668" "0" "99" "10" "73270876" "73405738" "dup" "0" "02428" "CDH23_000435" "g.(73270759_73270876)_(73405738_73406215)dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377669" "0" "99" "10" "73560513" "73560513" "subst" "0" "02428" "CDH23_000436" "g.73560513G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71800756G>A" "" "pathogenic" "" "0000377670" "1" "99" "10" "73539205" "73539205" "subst" "0" "02428" "CDH23_000437" "g.73539205G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71779448G>A" "" "pathogenic" "" "0000377671" "2" "99" "10" "73269838" "73270970" "del" "0" "02428" "CDH23_000438" "g.(73206153_73269838)_(73270970_73326498)del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377672" "1" "75" "10" "73455215" "73455215" "subst" "5.27953E-5" "02428" "CDH23_000439" "g.73455215C>A" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23T777K:} USMA-{MSV3dQ9H251p.Tyr777Lys:}" "" "" "heterozygous; probably pathogenic" "Germline" "" "rs199709482" "0" "" "" "g.71695458C>A" "" "VUS" "ACMG" "0000377673" "10" "99" "10" "73483820" "73483820" "subst" "0" "02428" "CDH23_000440" "g.73483820G>T" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23D1130Y:} USMA-{MSV3dQ9H251p.Asp1130Tyr:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71724063G>T" "" "pathogenic" "" "0000377674" "20" "99" "10" "73483820" "73483820" "subst" "0" "02428" "CDH23_000440" "g.73483820G>T" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMACDH23D1130Y:} USMA-{MSV3dQ9H251p.Asp1130Tyr:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.71724063G>T" "" "pathogenic" "" "0000377675" "1" "99" "10" "73206129" "73206129" "dup" "0" "02428" "CDH23_000441" "g.73206129dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71446372dup" "" "pathogenic" "" "0000377676" "2" "99" "10" "73556979" "73556979" "subst" "0" "02428" "CDH23_000442" "g.73556979T>C" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71797222T>C" "" "pathogenic" "" "0000377677" "1" "99" "10" "73567396" "73567396" "subst" "0" "02428" "CDH23_000443" "g.73567396G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.71807639G>A" "" "pathogenic" "" "0000377678" "11" "99" "10" "73270710" "73500708" "dup" "0" "02428" "CDH23_000444" "g.(73269982_73270710)_(73500708_73501450)dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000377679" "10" "75" "10" "73206122" "73206122" "subst" "0" "02428" "CDH23_000445" "g.73206122T>C" "" "Abdi accepted in Plos One; USMA-{USMACDH23:Y39H} USMA-{MSV3dQ9H251:p.Tyr39His}" "" "" "homozygous; UV4" "Germline" "" "" "0" "" "" "g.71446365T>C" "" "VUS" "ACMG" "0000377680" "20" "75" "10" "73206122" "73206122" "subst" "0" "02428" "CDH23_000445" "g.73206122T>C" "" "Abdi accepted in Plos One; USMA-{USMACDH23:Y39H} USMA-{MSV3dQ9H251:p.Tyr39His}" "" "" "homozygous; UV4" "Germline" "" "" "0" "" "" "g.71446365T>C" "" "VUS" "ACMG" "0000377681" "21" "99" "10" "73377100" "73377100" "subst" "0" "02428" "CDH23_000446" "g.73377100C>T" "" "Abdi accepted in Plos One" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71617343C>T" "" "pathogenic" "" "0000377682" "11" "75" "10" "73500591" "73500591" "subst" "0" "02428" "CDH23_000447" "g.73500591G>A" "" "Abdi accepted in Plos One; USMA-{USMACDH23:D1501N} USMA-{MSV3dQ9H251:p.Asp1501Asn}" "" "" "heterozygous; UV4" "Germline" "" "rs780958199" "0" "" "" "g.71740834G>A" "" "VUS" "ACMG" "0000377683" "10" "35" "10" "73548726" "73548726" "subst" "0" "02428" "CDH23_000448" "g.73548726T>A" "" "Abdi accepted in Plos One" "" "" "homozygous; UV2 - Possible exon skipping" "Germline" "" "" "0" "" "" "g.71788969T>A" "" "likely benign" "ACMG" "0000377684" "20" "35" "10" "73548726" "73548726" "subst" "0" "02428" "CDH23_000448" "g.73548726T>A" "" "Abdi accepted in Plos One" "" "" "homozygous; UV2 - Possible exon skipping" "Germline" "" "" "0" "" "" "g.71788969T>A" "" "likely benign" "ACMG" "0000377685" "3" "75" "10" "73565950" "73565950" "subst" "0" "02416" "CDH23_000449" "g.73565950G>A" "" "{PMID:Baux, Vaché 2017:29196752}; USMA-{USMACDH23G2697D:} USMA-{MSV3dQ9H251p.Gly2697Asp:}" "" "" "" "Germline" "" "rs765388872" "0" "" "" "g.71806193G>A" "" "likely pathogenic (recessive)" "ACMG" "0000377687" "0" "95" "10" "73552937" "73552937" "subst" "0" "02416" "CDH23_000450" "g.73552937A>G" "" "{PMID:Baux, Vaché 2017:29196752}" "" "" "heterozygous" "De novo" "" "" "0" "" "" "g.71793180A>G" "" "likely pathogenic" "ACMG" "0000377688" "21" "99" "10" "73483860" "73483860" "dup" "0" "02416" "CDH23_000451" "g.73483860dup" "" "{PMID:Baux, Vaché 2017:29196752}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.71724103dup" "" "pathogenic" "" "0000377690" "3" "75" "10" "73462381" "73462381" "subst" "0" "02416" "CDH23_000452" "g.73462381C>T" "" "{PMID:Baux, Vaché 2017:29196752}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.71702624C>T" "" "VUS" "ACMG" "0000406348" "2" "70" "10" "73330641" "73330641" "subst" "4.06171E-5" "00006" "CDH23_000126" "g.73330641C>T" "" "{PMID:Kim 2015:26264712}" "" "C719T" "" "Germline" "" "" "0" "" "" "g.71570884C>T" "" "likely pathogenic" "" "0000406349" "1" "90" "10" "73537444" "73537444" "subst" "0" "00006" "CDH23_000461" "g.73537444C>A" "" "{PMID:Kim 2015:26264712}" "" "C4853A" "" "Germline" "" "" "0" "" "" "g.71777687C>A" "" "pathogenic (recessive)" "" "0000406350" "2" "90" "10" "73330641" "73330641" "subst" "4.06171E-5" "00006" "CDH23_000126" "g.73330641C>T" "" "{PMID:Kim 2015:26264712}" "" "C719T" "" "Germline" "" "" "0" "" "" "g.71570884C>T" "" "pathogenic (recessive)" "" "0000406351" "3" "90" "10" "73330641" "73330641" "subst" "4.06171E-5" "00006" "CDH23_000126" "g.73330641C>T" "" "{PMID:Kim 2015:26264712}" "" "C719T" "" "Germline" "" "" "0" "" "" "g.71570884C>T" "" "pathogenic (recessive)" "" "0000406352" "3" "90" "10" "73330641" "73330641" "subst" "4.06171E-5" "00006" "CDH23_000126" "g.73330641C>T" "" "{PMID:Kim 2015:26264712}" "" "C719T" "" "Germline" "" "" "0" "" "" "g.71570884C>T" "" "pathogenic (recessive)" "" "0000438547" "1" "90" "10" "73550880" "73550880" "subst" "4.96915E-5" "01244" "CDH23_000007" "g.73550880G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000438548" "2" "90" "10" "73550874" "73550874" "subst" "1.39504E-5" "01244" "CDH23_000677" "g.73550874G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71791117G>A" "" "pathogenic" "" "0000454009" "21" "70" "10" "73377112" "73377112" "subst" "0.00729672" "02476" "CDH23_000678" "g.73377112G>A" "" "" "" "" "" "Germline" "yes" "rs143282422" "0" "" "" "g.71617355G>A" "{CV:44114}" "likely pathogenic" "" "0000454010" "11" "70" "10" "73437201" "73437201" "subst" "2.24404E-5" "02476" "CDH23_000679" "g.73437201G>A" "" "" "" "" "" "Germline" "yes" "rs369396703" "0" "" "" "g.71677444G>A" "{CV:228484}" "likely pathogenic" "" "0000540625" "0" "30" "10" "73199663" "73199663" "subst" "0.000480741" "02330" "CDH23_000680" "g.73199663C>T" "" "" "" "CDH23(NM_022124.6):c.67+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71439906C>T" "" "likely benign" "" "0000540627" "0" "50" "10" "73269949" "73269949" "subst" "9.75221E-5" "01943" "CDH23_000366" "g.73269949G>A" "" "" "" "CDH23(NM_022124.5):c.256G>A (p.V86M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71510192G>A" "" "VUS" "" "0000540628" "0" "30" "10" "73270746" "73270746" "subst" "6.90462E-5" "01943" "CDH23_000681" "g.73270746C>T" "" "" "" "CDH23(NM_022124.5):c.324C>T (p.S108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71510989C>T" "" "likely benign" "" "0000540629" "0" "50" "10" "73270925" "73270925" "subst" "0.000239623" "02330" "CDH23_000682" "g.73270925G>A" "" "" "" "CDH23(NM_022124.6):c.385G>A (p.A129T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71511168G>A" "" "VUS" "" "0000540630" "0" "50" "10" "73270955" "73270955" "subst" "8.52896E-5" "02330" "CDH23_000372" "g.73270955G>A" "" "" "" "CDH23(NM_022124.5):c.415G>A (p.V139I), CDH23(NM_022124.6):c.415G>A (p.V139I, p.(Val139Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71511198G>A" "" "VUS" "" "0000540631" "0" "50" "10" "73270955" "73270955" "subst" "8.52896E-5" "01943" "CDH23_000372" "g.73270955G>A" "" "" "" "CDH23(NM_022124.5):c.415G>A (p.V139I), CDH23(NM_022124.6):c.415G>A (p.V139I, p.(Val139Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71511198G>A" "" "VUS" "" "0000540632" "0" "50" "10" "73270958" "73270958" "subst" "8.12321E-6" "01943" "CDH23_000683" "g.73270958C>T" "" "" "" "CDH23(NM_022124.5):c.418C>T (p.R140C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71511201C>T" "" "VUS" "" "0000540633" "0" "10" "10" "73270973" "73270973" "subst" "0.00154737" "02330" "CDH23_000376" "g.73270973G>A" "" "" "" "CDH23(NM_022124.5):c.429+4G>A, CDH23(NM_022124.6):c.429+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71511216G>A" "" "benign" "" "0000540634" "0" "50" "10" "73270973" "73270973" "subst" "0.00154737" "01943" "CDH23_000376" "g.73270973G>A" "" "" "" "CDH23(NM_022124.5):c.429+4G>A, CDH23(NM_022124.6):c.429+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71511216G>A" "" "VUS" "" "0000540636" "0" "50" "10" "73326529" "73326529" "subst" "9.806E-5" "01943" "CDH23_000684" "g.73326529G>A" "" "" "" "CDH23(NM_022124.5):c.460G>A (p.V154M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71566772G>A" "" "VUS" "" "0000540637" "0" "50" "10" "73326593" "73326593" "subst" "4.06246E-5" "01943" "CDH23_000685" "g.73326593C>T" "" "" "" "CDH23(NM_022124.5):c.524C>T (p.S175F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71566836C>T" "" "VUS" "" "0000540639" "0" "30" "10" "73337757" "73337757" "subst" "0.000312116" "01804" "CDH23_000478" "g.73337757A>G" "" "" "" "CDH23(NM_001171930.1):c.832+8A>G (p.(=)), CDH23(NM_022124.5):c.832+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71578000A>G" "" "likely benign" "" "0000540640" "0" "50" "10" "73376984" "73376984" "subst" "3.25074E-5" "01943" "CDH23_000686" "g.73376984G>A" "" "" "" "CDH23(NM_022124.5):c.968G>A (p.R323H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71617227G>A" "" "VUS" "" "0000540641" "0" "10" "10" "73377094" "73377094" "subst" "0.00240428" "02330" "CDH23_000687" "g.73377094C>T" "" "" "" "CDH23(NM_022124.5):c.1078C>T (p.L360=), CDH23(NM_022124.6):c.1078C>T (p.L360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71617337C>T" "" "benign" "" "0000540642" "0" "10" "10" "73377094" "73377094" "subst" "0.00240428" "01943" "CDH23_000687" "g.73377094C>T" "" "" "" "CDH23(NM_022124.5):c.1078C>T (p.L360=), CDH23(NM_022124.6):c.1078C>T (p.L360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71617337C>T" "" "benign" "" "0000540643" "0" "10" "10" "73377105" "73377105" "subst" "0.00134042" "02330" "CDH23_000688" "g.73377105C>T" "" "" "" "CDH23(NM_022124.6):c.1089C>T (p.V363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71617348C>T" "" "benign" "" "0000540644" "0" "50" "10" "73377106" "73377106" "subst" "0.000333073" "02330" "CDH23_000689" "g.73377106G>A" "" "" "" "CDH23(NM_022124.5):c.1090G>A (p.G364S), CDH23(NM_022124.6):c.1090G>A (p.G364S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71617349G>A" "" "VUS" "" "0000540645" "0" "30" "10" "73377112" "73377112" "subst" "0.00729672" "01804" "CDH23_000039" "g.73377112G>A" "" "" "" "CDH23(NM_001171930.1):c.1096G>A (p.(Ala366Thr)), CDH23(NM_022124.5):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71617355G>A" "" "likely benign" "" "0000540646" "0" "10" "10" "73377172" "73377172" "subst" "0.00136017" "01943" "CDH23_000479" "g.73377172C>T" "" "" "" "CDH23(NM_001171932.1):c.1156C>T (p.P386S), CDH23(NM_001171932.2):c.1156C>T (p.P386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71617415C>T" "" "benign" "" "0000540647" "0" "30" "10" "73377222" "73377222" "subst" "0" "02330" "CDH23_000690" "g.73377222A>G" "" "" "" "CDH23(NM_001171932.2):c.1206A>G (p.S402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71617465A>G" "" "likely benign" "" "0000540648" "0" "50" "10" "73405599" "73405599" "subst" "0" "01943" "CDH23_000430" "g.73405599C>A" "" "" "" "CDH23(NM_022124.5):c.1152C>A (p.S384R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71645842C>A" "" "VUS" "" "0000540649" "0" "50" "10" "73405626" "73405626" "subst" "4.06616E-6" "01943" "CDH23_000691" "g.73405626C>A" "" "" "" "CDH23(NM_022124.5):c.1179C>A (p.N393K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71645869C>A" "" "VUS" "" "0000540651" "0" "30" "10" "73405674" "73405674" "subst" "0.000459959" "01943" "CDH23_000693" "g.73405674G>A" "" "" "" "CDH23(NM_022124.5):c.1227G>A (p.A409=), CDH23(NM_022124.6):c.1227G>A (p.A409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71645917G>A" "" "likely benign" "" "0000540652" "0" "50" "10" "73405717" "73405717" "subst" "0.000200116" "01943" "CDH23_000411" "g.73405717G>A" "" "" "" "CDH23(NM_022124.5):c.1270G>A (p.V424M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71645960G>A" "" "VUS" "" "0000540653" "0" "90" "10" "73406215" "73406215" "subst" "0" "02327" "CDH23_000694" "g.73406215G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71646458G>A" "" "pathogenic" "" "0000540654" "0" "30" "10" "73406230" "73406230" "subst" "1.62632E-5" "01804" "CDH23_000695" "g.73406230G>C" "" "" "" "CDH23(NM_001171930.1):c.1305G>C (p.(Glu435Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71646473G>C" "" "likely benign" "" "0000540655" "0" "10" "10" "73406232" "73406232" "subst" "0.00278516" "02330" "CDH23_000234" "g.73406232G>A" "" "" "" "CDH23(NM_022124.5):c.1307G>A (p.S436N), CDH23(NM_022124.6):c.1307G>A (p.S436N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71646475G>A" "" "benign" "" "0000540656" "0" "30" "10" "73406232" "73406232" "subst" "0.00278516" "01943" "CDH23_000234" "g.73406232G>A" "" "" "" "CDH23(NM_022124.5):c.1307G>A (p.S436N), CDH23(NM_022124.6):c.1307G>A (p.S436N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71646475G>A" "" "likely benign" "" "0000540658" "0" "30" "10" "73406232" "73406232" "subst" "0.00278516" "02327" "CDH23_000234" "g.73406232G>A" "" "" "" "CDH23(NM_022124.5):c.1307G>A (p.S436N), CDH23(NM_022124.6):c.1307G>A (p.S436N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71646475G>A" "" "likely benign" "" "0000540659" "0" "30" "10" "73406448" "73406448" "subst" "2.45495E-5" "02330" "CDH23_000696" "g.73406448G>A" "" "" "" "CDH23(NM_052836.4):c.1523G>A (p.C508Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71646691G>A" "" "likely benign" "" "0000540660" "0" "10" "10" "73406448" "73406448" "subst" "0.00217672" "02330" "CDH23_000697" "g.73406448G>T" "" "" "" "CDH23(NM_052836.3):c.1523G>T (p.C508F), CDH23(NM_052836.4):c.1523G>T (p.C508F, p.(Cys508Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71646691G>T" "" "benign" "" "0000540661" "0" "10" "10" "73406448" "73406448" "subst" "0.00217672" "01943" "CDH23_000697" "g.73406448G>T" "" "" "" "CDH23(NM_052836.3):c.1523G>T (p.C508F), CDH23(NM_052836.4):c.1523G>T (p.C508F, p.(Cys508Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71646691G>T" "" "benign" "" "0000540662" "0" "30" "10" "73406450" "73406450" "subst" "0.00432573" "01804" "CDH23_000698" "g.73406450C>A" "" "" "" "CDH23(NM_052836.3):c.1525C>A (p.(Pro509Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71646693C>A" "" "likely benign" "" "0000540663" "0" "10" "10" "73437234" "73437234" "subst" "2.91443E-5" "02330" "CDH23_000699" "g.73437234G>A" "" "" "" "CDH23(NM_022124.5):c.1536G>A (p.T512=), CDH23(NM_022124.6):c.1536G>A (p.T512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71677477G>A" "" "benign" "" "0000540664" "0" "30" "10" "73437234" "73437234" "subst" "2.91443E-5" "01943" "CDH23_000699" "g.73437234G>A" "" "" "" "CDH23(NM_022124.5):c.1536G>A (p.T512=), CDH23(NM_022124.6):c.1536G>A (p.T512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71677477G>A" "" "likely benign" "" "0000540665" "0" "50" "10" "73437412" "73437412" "subst" "0" "02327" "CDH23_000700" "g.73437412G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71677655G>A" "" "VUS" "" "0000540666" "0" "30" "10" "73447439" "73447439" "subst" "5.28301E-5" "01943" "CDH23_000701" "g.73447439C>T" "" "" "" "CDH23(NM_022124.5):c.2022C>T (p.P674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71687682C>T" "" "likely benign" "" "0000540667" "0" "50" "10" "73450336" "73450336" "subst" "0" "02327" "CDH23_000702" "g.73450336G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71690579G>C" "" "VUS" "" "0000540668" "0" "10" "10" "73450353" "73450353" "del" "0" "02330" "CDH23_000703" "g.73450353del" "" "" "" "CDH23(NM_022124.6):c.2176+12delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71690596del" "" "benign" "" "0000540669" "0" "10" "10" "73450354" "73450354" "dup" "0" "02330" "CDH23_000704" "g.73450354dup" "" "" "" "CDH23(NM_022124.6):c.2176+13dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71690597dup" "" "benign" "" "0000540670" "0" "50" "10" "73453966" "73453966" "subst" "0.001073" "02327" "CDH23_000077" "g.73453966C>T" "" "" "" "CDH23(NM_022124.5):c.2239C>T (p.R747C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71694209C>T" "" "VUS" "" "0000540671" "0" "50" "10" "73453967" "73453967" "subst" "8.12909E-6" "02330" "CDH23_000705" "g.73453967G>A" "" "" "" "CDH23(NM_022124.6):c.2240G>A (p.R747H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71694210G>A" "" "VUS" "" "0000540672" "0" "30" "10" "73453990" "73453990" "subst" "0.00218662" "02330" "CDH23_000111" "g.73453990C>T" "" "" "" "CDH23(NM_001171930.1):c.2263C>T (p.(His755Tyr)), CDH23(NM_022124.5):c.2263C>T (p.H755Y), CDH23(NM_022124.6):c.2263C>T (p.H755Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71694233C>T" "" "likely benign" "" "0000540673" "0" "30" "10" "73453990" "73453990" "subst" "0.00218662" "01943" "CDH23_000111" "g.73453990C>T" "" "" "" "CDH23(NM_001171930.1):c.2263C>T (p.(His755Tyr)), CDH23(NM_022124.5):c.2263C>T (p.H755Y), CDH23(NM_022124.6):c.2263C>T (p.H755Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71694233C>T" "" "likely benign" "" "0000540674" "0" "30" "10" "73453990" "73453990" "subst" "0.00218662" "01804" "CDH23_000111" "g.73453990C>T" "" "" "" "CDH23(NM_001171930.1):c.2263C>T (p.(His755Tyr)), CDH23(NM_022124.5):c.2263C>T (p.H755Y), CDH23(NM_022124.6):c.2263C>T (p.H755Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71694233C>T" "" "likely benign" "" "0000540675" "0" "30" "10" "73461905" "73461905" "subst" "2.84419E-5" "01943" "CDH23_000706" "g.73461905C>T" "" "" "" "CDH23(NM_022124.5):c.2524C>T (p.R842W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71702148C>T" "" "likely benign" "" "0000540676" "0" "50" "10" "73464738" "73464738" "subst" "4.49196E-5" "01943" "CDH23_000707" "g.73464738G>A" "" "" "" "CDH23(NM_022124.5):c.2804G>A (p.R935H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71704981G>A" "" "VUS" "" "0000540678" "0" "30" "10" "73464754" "73464754" "subst" "0" "02330" "CDH23_000708" "g.73464754C>T" "" "" "" "CDH23(NM_022124.6):c.2820C>T (p.I940=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71704997C>T" "" "likely benign" "" "0000540679" "0" "30" "10" "73464764" "73464764" "subst" "0.0012298" "01943" "CDH23_000607" "g.73464764A>G" "" "" "" "CDH23(NM_001171930.1):c.2830A>G (p.(Ser944Gly)), CDH23(NM_022124.5):c.2830A>G (p.S944G), CDH23(NM_022124.6):c.2830A>G (p.S944G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71705007A>G" "" "likely benign" "" "0000540681" "0" "10" "10" "73464812" "73464812" "subst" "0.00301747" "02330" "CDH23_000453" "g.73464812G>A" "" "" "" "CDH23(NM_022124.5):c.2878G>A (p.E960K), CDH23(NM_022124.6):c.2878G>A (p.E960K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71705055G>A" "" "benign" "" "0000540682" "0" "30" "10" "73464812" "73464812" "subst" "0.00301747" "01943" "CDH23_000453" "g.73464812G>A" "" "" "" "CDH23(NM_022124.5):c.2878G>A (p.E960K), CDH23(NM_022124.6):c.2878G>A (p.E960K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71705055G>A" "" "likely benign" "" "0000540683" "0" "10" "10" "73466823" "73466823" "subst" "0.000771702" "02330" "CDH23_000710" "g.73466823C>T" "" "" "" "CDH23(NM_001171931.2):c.3123C>T (p.S1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71707066C>T" "" "benign" "" "0000540684" "0" "10" "10" "73468862" "73468862" "subst" "4.06673E-6" "02330" "CDH23_000711" "g.73468862C>T" "" "" "" "CDH23(NM_022124.6):c.3114C>T (p.N1038=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71709105C>T" "" "benign" "" "0000540685" "0" "30" "10" "73468926" "73468926" "subst" "0.000483944" "02327" "CDH23_000164" "g.73468926C>T" "" "" "" "CDH23(NM_022124.5):c.3178C>T (p.R1060W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71709169C>T" "" "likely benign" "" "0000540686" "0" "50" "10" "73468927" "73468927" "subst" "5.69272E-5" "01943" "CDH23_000660" "g.73468927G>A" "" "" "" "CDH23(NM_022124.5):c.3179G>A (p.R1060Q), CDH23(NM_022124.6):c.3179G>A (p.R1060Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71709170G>A" "" "VUS" "" "0000540687" "0" "30" "10" "73472486" "73472486" "subst" "5.29834E-5" "01943" "CDH23_000712" "g.73472486G>C" "" "" "" "CDH23(NM_022124.5):c.3285G>C (p.V1095=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71712729G>C" "" "likely benign" "" "0000540688" "0" "30" "10" "73472494" "73472494" "subst" "0.00224305" "01804" "CDH23_000034" "g.73472494A>G" "" "" "" "CDH23(NM_001171930.1):c.3293A>G (p.(Asn1098Ser)), CDH23(NM_022124.5):c.3293A>G (p.N1098S), CDH23(NM_022124.6):c.3293A>G (p.N1098S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71712737A>G" "" "likely benign" "" "0000540689" "0" "30" "10" "73472494" "73472494" "subst" "0.00224305" "02326" "CDH23_000034" "g.73472494A>G" "" "" "" "CDH23(NM_001171930.1):c.3293A>G (p.(Asn1098Ser)), CDH23(NM_022124.5):c.3293A>G (p.N1098S), CDH23(NM_022124.6):c.3293A>G (p.N1098S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71712737A>G" "" "likely benign" "" "0000540690" "0" "50" "10" "73472554" "73472554" "subst" "1.24013E-5" "01943" "CDH23_000714" "g.73472554G>T" "" "" "" "CDH23(NM_022124.5):c.3353G>T (p.G1118V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71712797G>T" "" "VUS" "" "0000540693" "0" "30" "10" "73485208" "73485208" "subst" "0" "01943" "CDH23_000717" "g.73485208G>A" "" "" "" "CDH23(NM_022124.5):c.3510G>A (p.R1170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71725451G>A" "" "likely benign" "" "0000540694" "0" "50" "10" "73485279" "73485279" "subst" "0" "01804" "CDH23_000718" "g.73485279T>C" "" "" "" "CDH23(NM_001171930.1):c.3579+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71725522T>C" "" "VUS" "" "0000540696" "0" "90" "10" "73490301" "73490301" "subst" "0" "01943" "CDH23_000402" "g.73490301C>T" "" "" "" "CDH23(NM_022124.5):c.3655C>T (p.R1219*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71730544C>T" "" "pathogenic" "" "0000540697" "0" "10" "10" "73491736" "73491736" "subst" "2.45306E-5" "02330" "CDH23_000719" "g.73491736T>C" "" "" "" "C10orf105(NM_001168390.2):c.-6+5749A>G, CDH23(NM_022124.6):c.3716-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71731979T>C" "" "benign" "" "0000540698" "0" "10" "10" "73491829" "73491829" "subst" "0.00141327" "01943" "CDH23_000237" "g.73491829C>T" "" "" "" "CDH23(NM_022124.5):c.3801C>T (p.T1267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71732072C>T" "" "benign" "" "0000540699" "0" "30" "10" "73491873" "73491873" "subst" "0.00291179" "01804" "CDH23_000226" "g.73491873A>G" "" "" "" "CDH23(NM_001171930.1):c.3845A>G (p.(Asn1282Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71732116A>G" "" "likely benign" "" "0000540700" "0" "30" "10" "73491873" "73491873" "subst" "0.00291179" "02327" "CDH23_000226" "g.73491873A>G" "" "" "" "CDH23(NM_001171930.1):c.3845A>G (p.(Asn1282Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71732116A>G" "" "likely benign" "" "0000540701" "0" "90" "10" "73491983" "73491983" "subst" "0" "02327" "CDH23_000720" "g.73491983G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71732226G>T" "" "pathogenic" "" "0000540702" "0" "50" "10" "73492014" "73492014" "subst" "0.000305342" "01943" "CDH23_000395" "g.73492014G>A" "" "" "" "CDH23(NM_022124.5):c.3986G>A (p.G1329D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71732257G>A" "" "VUS" "" "0000540703" "0" "50" "10" "73492049" "73492049" "subst" "0" "01943" "CDH23_000129" "g.73492049G>A" "" "" "" "CDH23(NM_022124.5):c.4021G>A (p.D1341N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71732292G>A" "" "VUS" "" "0000540704" "0" "90" "10" "73492049" "73492049" "subst" "0" "02327" "CDH23_000129" "g.73492049G>A" "" "" "" "CDH23(NM_022124.5):c.4021G>A (p.D1341N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71732292G>A" "" "pathogenic" "" "0000540705" "0" "30" "10" "73492069" "73492069" "subst" "9.46245E-5" "01943" "CDH23_000721" "g.73492069G>A" "" "" "" "CDH23(NM_022124.5):c.4041G>A (p.T1347=), CDH23(NM_022124.6):c.4041G>A (p.T1347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71732312G>A" "" "likely benign" "" "0000540706" "0" "50" "10" "73492073" "73492073" "subst" "0.0024937" "01943" "CDH23_000672" "g.73492073C>T" "" "" "" "C10orf105(NM_001168390.2):c.-6+5412G>A, CDH23(NM_022124.5):c.4045C>T (p.R1349C), CDH23(NM_022124.6):c.4045C>T (p.R1349C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71732316C>T" "" "VUS" "" "0000540707" "0" "30" "10" "73498248" "73498248" "subst" "0.00410169" "01804" "CDH23_000722" "g.73498248C>T" "" "" "" "CDH23(NM_022124.6):c.4210-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71738491C>T" "" "likely benign" "" "0000540708" "0" "30" "10" "73498261" "73498261" "subst" "4.46708E-5" "01943" "CDH23_000414" "g.73498261A>G" "" "" "" "CDH23(NM_022124.5):c.4216A>G (p.I1406V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71738504A>G" "" "likely benign" "" "0000540709" "0" "50" "10" "73498287" "73498287" "subst" "0" "02327" "CDH23_000723" "g.73498287C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71738530C>A" "" "VUS" "" "0000540710" "0" "30" "10" "73498355" "73498355" "subst" "0.0356353" "01804" "CDH23_000029" "g.73498355G>A" "" "" "" "CDH23(NM_022124.5):c.4310G>A (p.(Arg1437Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71738598G>A" "" "likely benign" "" "0000540711" "0" "90" "10" "73498405" "73498405" "subst" "0" "02327" "CDH23_000724" "g.73498405G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71738648G>A" "" "pathogenic" "" "0000540712" "0" "50" "10" "73499446" "73499446" "subst" "0.000314388" "01943" "CDH23_000504" "g.73499446A>G" "" "" "" "CDH23(NM_022124.5):c.4405A>G (p.I1469V), CDH23(NM_022124.6):c.4405A>G (p.I1469V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71739689A>G" "" "VUS" "" "0000540713" "0" "50" "10" "73499459" "73499459" "subst" "0" "02330" "CDH23_000725" "g.73499459A>G" "" "" "" "CDH23(NM_022124.6):c.4418A>G (p.N1473S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71739702A>G" "" "VUS" "" "0000540714" "0" "50" "10" "73500609" "73500609" "subst" "2.03135E-5" "02330" "CDH23_000726" "g.73500609C>T" "" "" "" "CDH23(NM_022124.6):c.4519C>T (p.R1507W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71740852C>T" "" "VUS" "" "0000540715" "0" "50" "10" "73500609" "73500609" "subst" "2.03135E-5" "02325" "CDH23_000726" "g.73500609C>T" "" "" "" "CDH23(NM_022124.6):c.4519C>T (p.R1507W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71740852C>T" "" "VUS" "" "0000540716" "0" "70" "10" "73500652" "73500652" "subst" "1.21829E-5" "02327" "CDH23_000457" "g.73500652A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71740895A>G" "" "likely pathogenic" "" "0000540717" "0" "30" "10" "73500679" "73500679" "subst" "0.00130362" "01943" "CDH23_000506" "g.73500679C>T" "" "" "" "CDH23(NM_022124.5):c.4589C>T (p.P1530L, p.(Pro1530Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71740922C>T" "" "likely benign" "" "0000540718" "0" "10" "10" "73501504" "73501504" "subst" "2.05771E-5" "02330" "CDH23_000727" "g.73501504C>T" "" "" "" "CDH23(NM_022124.6):c.4671C>T (p.I1557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71741747C>T" "" "benign" "" "0000540719" "0" "50" "10" "73501595" "73501595" "subst" "0.000197032" "02327" "CDH23_000728" "g.73501595C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71741838C>T" "" "VUS" "" "0000540720" "0" "50" "10" "73501658" "73501658" "subst" "0" "01804" "CDH23_000729" "g.73501658G>C" "" "" "" "CDH23(NM_022124.5):c.4825G>C (p.(Glu1609Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71741901G>C" "" "VUS" "" "0000540722" "0" "10" "10" "73537449" "73537449" "subst" "0.0173057" "02327" "CDH23_000365" "g.73537449G>A" "" "" "" "CDH23(NM_022124.5):c.4858G>A (p.V1620M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71777692G>A" "" "benign" "" "0000540723" "0" "10" "10" "73537617" "73537617" "subst" "0.00311609" "01943" "CDH23_000516" "g.73537617G>A" "" "" "" "CDH23(NM_022124.5):c.5026G>A (p.A1676T), CDH23(NM_022124.6):c.5026G>A (p.A1676T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71777860G>A" "" "benign" "" "0000540725" "0" "30" "10" "73537641" "73537641" "subst" "0.000475799" "02330" "CDH23_000730" "g.73537641C>T" "" "" "" "CDH23(NM_022124.5):c.5050C>T (p.R1684C), CDH23(NM_022124.6):c.5050C>T (p.R1684C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71777884C>T" "" "likely benign" "" "0000540726" "0" "50" "10" "73537641" "73537641" "subst" "0.000475799" "01943" "CDH23_000730" "g.73537641C>T" "" "" "" "CDH23(NM_022124.5):c.5050C>T (p.R1684C), CDH23(NM_022124.6):c.5050C>T (p.R1684C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71777884C>T" "" "VUS" "" "0000540727" "0" "50" "10" "73537644" "73537644" "subst" "6.50539E-5" "01943" "CDH23_000731" "g.73537644A>G" "" "" "" "CDH23(NM_022124.5):c.5053A>G (p.I1685V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71777887A>G" "" "VUS" "" "0000540728" "0" "30" "10" "73537647" "73537647" "subst" "0.000146412" "01943" "CDH23_000732" "g.73537647G>A" "" "" "" "CDH23(NM_022124.5):c.5056G>A (p.D1686N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71777890G>A" "" "likely benign" "" "0000540729" "0" "50" "10" "73537995" "73537995" "subst" "6.904E-5" "02330" "CDH23_000628" "g.73537995G>A" "" "" "" "CDH23(NM_022124.6):c.5117G>A (p.R1706H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71778238G>A" "" "VUS" "" "0000540730" "0" "30" "10" "73538008" "73538008" "subst" "0.000316751" "01943" "CDH23_000733" "g.73538008C>T" "" "" "" "CDH23(NM_022124.5):c.5130C>T (p.I1710=), CDH23(NM_022124.6):c.5130C>T (p.I1710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71778251C>T" "" "likely benign" "" "0000540733" "0" "30" "10" "73539148" "73539148" "subst" "0.000748966" "01804" "CDH23_000520" "g.73539148G>A" "" "" "" "CDH23(NM_022124.5):c.5312G>A (p.R1771Q, p.(Arg1771Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71779391G>A" "" "likely benign" "" "0000540734" "0" "50" "10" "73539199" "73539199" "subst" "0.000120318" "02330" "CDH23_000121" "g.73539199C>T" "" "" "" "CDH23(NM_022124.6):c.5363C>T (p.P1788L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71779442C>T" "" "VUS" "" "0000540736" "0" "50" "10" "73544663" "73544663" "subst" "1.62466E-5" "02330" "CDH23_000523" "g.73544663C>T" "" "" "" "CDH23(NM_022124.5):c.5518C>T (p.R1840W), CDH23(NM_022124.6):c.5518C>T (p.R1840W, p.(Arg1840Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71784906C>T" "" "VUS" "" "0000540737" "0" "50" "10" "73544856" "73544856" "subst" "8.96634E-5" "01943" "CDH23_000735" "g.73544856C>T" "" "" "" "CDH23(NM_022124.5):c.5711C>T (p.T1904M), CDH23(NM_022124.6):c.5711C>T (p.(Thr1904Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71785099C>T" "" "VUS" "" "0000540738" "0" "50" "10" "73545428" "73545428" "subst" "0.00039888" "01943" "CDH23_000736" "g.73545428G>A" "" "" "" "CDH23(NM_022124.5):c.5753G>A (p.R1918Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71785671G>A" "" "VUS" "" "0000540739" "0" "70" "10" "73550170" "73550170" "subst" "2.90587E-5" "02327" "CDH23_000046" "g.73550170G>A" "" "" "" "CDH23(NM_022124.6):c.6049G>A (p.G2017S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71790413G>A" "" "likely pathogenic" "" "0000540740" "0" "50" "10" "73550978" "73550978" "subst" "0.000175318" "02327" "CDH23_000737" "g.73550978G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71791221G>A" "" "VUS" "" "0000540741" "0" "50" "10" "73550978" "73550978" "subst" "0" "01943" "CDH23_000738" "g.73550978G>T" "" "" "" "CDH23(NM_022124.5):c.6139G>T (p.G2047W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71791221G>T" "" "VUS" "" "0000540742" "0" "70" "10" "73553127" "73553127" "subst" "8.93815E-5" "01943" "CDH23_000128" "g.73553127G>A" "" "" "" "CDH23(NM_022124.5):c.6442G>A (p.D2148N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71793370G>A" "" "likely pathogenic" "" "0000540743" "0" "50" "10" "73553215" "73553215" "subst" "1.21969E-5" "01943" "CDH23_000739" "g.73553215C>T" "" "" "" "CDH23(NM_022124.5):c.6530C>T (p.P2177L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71793458C>T" "" "VUS" "" "0000540744" "0" "30" "10" "73553276" "73553276" "subst" "0.000154513" "01943" "CDH23_000740" "g.73553276G>A" "" "" "" "CDH23(NM_022124.5):c.6591G>A (p.T2197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71793519G>A" "" "likely benign" "" "0000540745" "0" "30" "10" "73553333" "73553333" "subst" "0.00122533" "02330" "CDH23_000264" "g.73553333C>T" "" "" "" "CDH23(NM_022124.5):c.6648C>T (p.A2216=), CDH23(NM_022124.6):c.6648C>T (p.A2216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71793576C>T" "" "likely benign" "" "0000540746" "0" "30" "10" "73553390" "73553390" "subst" "0.000486962" "01943" "CDH23_000741" "g.73553390C>T" "" "" "" "CDH23(NM_022124.5):c.6705C>T (p.I2235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71793633C>T" "" "likely benign" "" "0000540747" "0" "50" "10" "73553394" "73553394" "subst" "9.34754E-6" "02327" "CDH23_000742" "g.73553394A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71793637A>G" "" "VUS" "" "0000540748" "0" "30" "10" "73556853" "73556853" "subst" "0.000362785" "01943" "CDH23_000743" "g.73556853G>A" "" "" "" "CDH23(NM_022124.5):c.6713-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71797096G>A" "" "likely benign" "" "0000540749" "0" "30" "10" "73558236" "73558236" "subst" "0" "01943" "CDH23_000744" "g.73558236G>A" "" "" "" "CDH23(NM_022124.5):c.6955G>A (p.A2319T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71798479G>A" "" "likely benign" "" "0000540750" "0" "10" "10" "73558271" "73558271" "subst" "0.00144049" "01943" "CDH23_000545" "g.73558271G>T" "" "" "" "CDH23(NM_022124.5):c.6990G>T (p.L2330=), CDH23(NM_022124.6):c.6990G>T (p.L2330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71798514G>T" "" "benign" "" "0000540751" "0" "50" "10" "73558941" "73558941" "subst" "0" "02327" "CDH23_000745" "g.73558941C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71799184C>A" "" "VUS" "" "0000540752" "0" "50" "10" "73560424" "73560424" "subst" "0.000223397" "01943" "CDH23_000746" "g.73560424G>A" "" "" "" "CDH23(NM_022124.5):c.7394G>A (p.R2465Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71800667G>A" "" "VUS" "" "0000540753" "0" "50" "10" "73560496" "73560496" "subst" "2.43861E-5" "02330" "CDH23_000346" "g.73560496G>A" "" "" "" "CDH23(NM_022124.6):c.7466G>A (p.R2489H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71800739G>A" "" "VUS" "" "0000540755" "0" "30" "10" "73562802" "73562802" "subst" "0.00366528" "02330" "CDH23_000747" "g.73562802T>C" "" "" "" "CDH23(NM_022124.5):c.7630T>C (p.L2544=), CDH23(NM_022124.6):c.7630T>C (p.L2544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71803045T>C" "" "likely benign" "" "0000540756" "0" "30" "10" "73562802" "73562802" "subst" "0.00366528" "01943" "CDH23_000747" "g.73562802T>C" "" "" "" "CDH23(NM_022124.5):c.7630T>C (p.L2544=), CDH23(NM_022124.6):c.7630T>C (p.L2544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71803045T>C" "" "likely benign" "" "0000540757" "0" "90" "10" "73562833" "73562833" "subst" "0" "02330" "CDH23_000332" "g.73562833G>T" "" "" "" "CDH23(NM_022124.5):c.7660+1G>T, CDH23(NM_022124.6):c.7660+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71803076G>T" "" "pathogenic" "" "0000540758" "0" "90" "10" "73562833" "73562833" "subst" "0" "01943" "CDH23_000332" "g.73562833G>T" "" "" "" "CDH23(NM_022124.5):c.7660+1G>T, CDH23(NM_022124.6):c.7660+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71803076G>T" "" "pathogenic" "" "0000540759" "0" "30" "10" "73562947" "73562947" "subst" "0" "02327" "CDH23_000748" "g.73562947C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71803190C>T" "" "likely benign" "" "0000540760" "0" "50" "10" "73563127" "73563127" "subst" "3.16908E-5" "01943" "CDH23_000749" "g.73563127C>T" "" "" "" "CDH23(NM_022124.5):c.7822C>T (p.R2608C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71803370C>T" "" "VUS" "" "0000540761" "0" "50" "10" "73563128" "73563128" "subst" "0.000670587" "01943" "CDH23_000132" "g.73563128G>A" "" "" "" "CDH23(NM_022124.5):c.7823G>A (p.R2608H), CDH23(NM_022124.6):c.7823G>A (p.(Arg2608His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71803371G>A" "" "VUS" "" "0000540762" "0" "50" "10" "73565624" "73565624" "subst" "0" "02327" "CDH23_000750" "g.73565624A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71805867A>C" "" "VUS" "" "0000540763" "0" "30" "10" "73566027" "73566027" "subst" "0.000287202" "01804" "CDH23_000557" "g.73566027G>C" "" "" "" "CDH23(NM_001171933.1):c.1447G>C (p.(Val483Leu)), CDH23(NM_022124.5):c.8167G>C (p.V2723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71806270G>C" "" "likely benign" "" "0000540764" "0" "50" "10" "73567094" "73567094" "subst" "4.07209E-5" "01943" "CDH23_000751" "g.73567094G>A" "" "" "" "CDH23(NM_022124.5):c.8239G>A (p.V2747M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71807337G>A" "" "VUS" "" "0000540765" "0" "50" "10" "73567103" "73567103" "subst" "8.14352E-6" "02327" "CDH23_000752" "g.73567103G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71807346G>A" "" "VUS" "" "0000540766" "0" "30" "10" "73567348" "73567348" "subst" "2.84729E-5" "01943" "CDH23_000753" "g.73567348G>A" "" "" "" "CDH23(NM_022124.5):c.8384G>A (p.R2795Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71807591G>A" "" "likely benign" "" "0000540767" "0" "50" "10" "73567462" "73567462" "subst" "9.47883E-5" "01804" "CDH23_000754" "g.73567462G>A" "" "" "" "CDH23(NM_001171933.1):c.1778G>A (p.(Arg593His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71807705G>A" "" "VUS" "" "0000540768" "0" "50" "10" "73567617" "73567617" "subst" "0" "02325" "CDH23_000755" "g.73567617G>A" "" "" "" "CDH23(NM_022124.6):c.8575G>A (p.A2859T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71807860G>A" "" "VUS" "" "0000540769" "0" "30" "10" "73567715" "73567715" "subst" "0" "01943" "CDH23_000756" "g.73567715C>T" "" "" "" "CDH23(NM_022124.5):c.8673C>T (p.F2891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71807958C>T" "" "likely benign" "" "0000540770" "0" "50" "10" "73569598" "73569598" "subst" "0" "02330" "CDH23_000757" "g.73569598G>A" "" "" "" "CDH23(NM_022124.6):c.8744G>A (p.R2915H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71809841G>A" "" "VUS" "" "0000540771" "0" "30" "10" "73569662" "73569662" "subst" "0.000611257" "01943" "CDH23_000758" "g.73569662C>T" "" "" "" "CDH23(NM_022124.5):c.8808C>T (p.D2936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71809905C>T" "" "likely benign" "" "0000540772" "0" "10" "10" "73569713" "73569713" "subst" "0.000945512" "01943" "CDH23_000759" "g.73569713C>T" "" "" "" "CDH23(NM_022124.5):c.8859C>T (p.D2953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71809956C>T" "" "benign" "" "0000540773" "0" "50" "10" "73570295" "73570295" "subst" "8.12209E-6" "02330" "CDH23_000760" "g.73570295C>T" "" "" "" "CDH23(NM_022124.6):c.9046C>T (p.R3016C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71810538C>T" "" "VUS" "" "0000540774" "0" "50" "10" "73570316" "73570316" "subst" "4.06194E-6" "02330" "CDH23_000761" "g.73570316G>C" "" "" "" "CDH23(NM_022124.6):c.9067G>C (p.D3023H, p.(Asp3023His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71810559G>C" "" "VUS" "" "0000540775" "0" "10" "10" "73570333" "73570333" "subst" "0.00147978" "02330" "CDH23_000571" "g.73570333C>T" "" "" "" "CDH23(NM_022124.5):c.9077+7C>T, CDH23(NM_022124.6):c.9077+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71810576C>T" "" "benign" "" "0000540776" "0" "30" "10" "73571123" "73571123" "subst" "0" "01943" "CDH23_000762" "g.73571123G>C" "" "" "" "CDH23(NM_022124.5):c.9129G>C (p.R3043=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71811366G>C" "" "likely benign" "" "0000540777" "0" "50" "10" "73571133" "73571133" "subst" "3.2501E-5" "02327" "CDH23_000763" "g.73571133G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71811376G>A" "" "VUS" "" "0000540778" "0" "10" "10" "73571142" "73571142" "subst" "1.21923E-5" "02330" "CDH23_000764" "g.73571142G>T" "" "" "" "CDH23(NM_022124.6):c.9148G>T (p.V3050L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71811385G>T" "" "benign" "" "0000540779" "0" "50" "10" "73571172" "73571172" "subst" "0" "01943" "CDH23_000765" "g.73571172G>T" "" "" "" "CDH23(NM_022124.5):c.9178G>T (p.D3060Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71811415G>T" "" "VUS" "" "0000540780" "0" "50" "10" "73571270" "73571270" "subst" "0" "01943" "CDH23_000766" "g.73571270G>A" "" "" "" "CDH23(NM_022124.5):c.9201G>A (p.M3067I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71811513G>A" "" "VUS" "" "0000540781" "0" "50" "10" "73571273" "73571275" "del" "0" "01943" "CDH23_000767" "g.73571273_73571275del" "" "" "" "CDH23(NM_022124.5):c.9204_9206delGAT (p.I3070del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71811516_71811518del" "" "VUS" "" "0000540782" "0" "30" "10" "73572093" "73572093" "subst" "0.000321337" "01943" "CDH23_000768" "g.73572093C>A" "" "" "" "CDH23(NM_001171935.1):c.45C>A (p.T15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71812336C>A" "" "likely benign" "" "0000540783" "0" "10" "10" "73572300" "73572300" "subst" "1.21925E-5" "02330" "CDH23_000769" "g.73572300T>C" "" "" "" "CDH23(NM_022124.6):c.9444T>C (p.H3148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71812543T>C" "" "benign" "" "0000540784" "0" "30" "10" "73572357" "73572357" "subst" "0.000650496" "02330" "CDH23_000770" "g.73572357G>A" "" "" "" "CDH23(NM_022124.5):c.9501G>A (p.T3167=), CDH23(NM_022124.6):c.9501G>A (p.T3167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71812600G>A" "" "likely benign" "" "0000540785" "0" "30" "10" "73572357" "73572357" "subst" "0.000650496" "01943" "CDH23_000770" "g.73572357G>A" "" "" "" "CDH23(NM_022124.5):c.9501G>A (p.T3167=), CDH23(NM_022124.6):c.9501G>A (p.T3167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71812600G>A" "" "likely benign" "" "0000540786" "0" "30" "10" "73572518" "73572518" "subst" "0.000110526" "01943" "CDH23_000771" "g.73572518T>C" "" "" "" "CDH23(NM_022124.5):c.9511-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71812761T>C" "" "likely benign" "" "0000540787" "0" "50" "10" "73572538" "73572538" "subst" "0.000278494" "02327" "CDH23_000161" "g.73572538G>A" "" "" "" "CDH23(NM_022124.5):c.9524G>A (p.R3175H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71812781G>A" "" "VUS" "" "0000540789" "0" "50" "10" "73572643" "73572643" "subst" "0.000342922" "01943" "CDH23_000582" "g.73572643T>C" "" "" "" "CDH23(NM_022124.5):c.9629T>C (p.I3210T), CDH23(NM_022124.6):c.9629T>C (p.I3210T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71812886T>C" "" "VUS" "" "0000540790" "0" "50" "10" "73574842" "73574842" "subst" "3.77159E-5" "02330" "CDH23_000773" "g.73574842C>T" "" "" "" "CDH23(NM_022124.6):c.9872C>T (p.T3291M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71815085C>T" "" "VUS" "" "0000540791" "0" "30" "10" "73574873" "73574873" "subst" "0.00179088" "01943" "CDH23_000179" "g.73574873C>T" "" "" "" "CDH23(NM_022124.5):c.9903C>T (p.P3301=), CDH23(NM_022124.6):c.9903C>T (p.P3301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71815116C>T" "" "likely benign" "" "0000540792" "0" "30" "10" "73574912" "73574912" "subst" "0.00030026" "01943" "CDH23_000774" "g.73574912G>A" "" "" "" "CDH23(NM_022124.5):c.9942G>A (p.T3314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71815155G>A" "" "likely benign" "" "0000540793" "0" "50" "10" "73574913" "73574913" "subst" "8.31587E-6" "02330" "CDH23_000775" "g.73574913C>G" "" "" "" "CDH23(NM_022124.6):c.9943C>G (p.L3315V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71815156C>G" "" "VUS" "" "0000540794" "0" "50" "10" "73574920" "73574920" "subst" "0" "01804" "CDH23_000776" "g.73574920C>A" "" "" "" "CDH23(NM_001171933.1):c.3230C>A (p.(Ala1077Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71815163C>A" "" "VUS" "" "0000540795" "0" "50" "10" "73574949" "73574949" "subst" "0.00011584" "01943" "CDH23_000777" "g.73574949G>A" "" "" "" "CDH23(NM_022124.5):c.9979G>A (p.A3327T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71815192G>A" "" "VUS" "" "0000540796" "0" "30" "10" "73574996" "73574996" "subst" "0.000386028" "01943" "CDH23_000778" "g.73574996C>T" "" "" "" "CDH23(NM_022124.5):c.10026C>T (p.D3342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71815239C>T" "" "likely benign" "" "0000612605" "0" "90" "10" "73270759" "73270759" "subst" "6.90417E-5" "02327" "CDH23_000109" "g.73270759G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71511002G>A" "" "pathogenic" "" "0000612606" "0" "30" "10" "73326681" "73326681" "subst" "3.68122E-5" "01943" "CDH23_000474" "g.73326681G>A" "" "" "" "CDH23(NM_022124.5):c.612G>A (p.T204=), CDH23(NM_022124.6):c.612G>A (p.T204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71566924G>A" "" "likely benign" "" "0000612607" "0" "50" "10" "73330617" "73330617" "subst" "3.65497E-5" "01804" "CDH23_000780" "g.73330617T>G" "" "" "" "CDH23(NM_001171930.1):c.695T>G (p.(Met232Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71570860T>G" "" "VUS" "" "0000612608" "0" "50" "10" "73377011" "73377011" "subst" "8.12229E-6" "01943" "CDH23_000781" "g.73377011C>T" "" "" "" "CDH23(NM_022124.5):c.995C>T (p.T332M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71617254C>T" "" "VUS" "" "0000612609" "0" "50" "10" "73450293" "73450293" "subst" "5.81535E-5" "02327" "CDH23_000783" "g.73450293A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71690536A>G" "" "VUS" "" "0000612610" "0" "50" "10" "73466729" "73466729" "subst" "0.000116075" "01943" "CDH23_000784" "g.73466729G>A" "" "" "" "CDH23(NM_022124.5):c.3029G>A (p.R1010H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71706972G>A" "" "VUS" "" "0000612611" "0" "30" "10" "73468941" "73468941" "subst" "0" "01804" "CDH23_000785" "g.73468941G>A" "" "" "" "CDH23(NM_001171930.1):c.3193G>A (p.(Ala1065Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71709184G>A" "" "likely benign" "" "0000612612" "0" "50" "10" "73490289" "73490289" "subst" "2.43829E-5" "01943" "CDH23_000786" "g.73490289C>T" "" "" "" "CDH23(NM_022124.5):c.3643C>T (p.R1215C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71730532C>T" "" "VUS" "" "0000612613" "0" "50" "10" "73492002" "73492002" "subst" "4.06954E-6" "01943" "CDH23_000787" "g.73492002A>C" "" "" "" "CDH23(NM_022124.5):c.3974A>C (p.N1325T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71732245A>C" "" "VUS" "" "0000612614" "0" "90" "10" "73537454" "73537454" "subst" "0" "02327" "CDH23_000788" "g.73537454C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71777697C>A" "" "pathogenic" "" "0000612615" "0" "30" "10" "73544680" "73544680" "subst" "9.34025E-5" "01943" "CDH23_000789" "g.73544680C>T" "" "" "" "CDH23(NM_022124.5):c.5535C>T (p.N1845=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71784923C>T" "" "likely benign" "" "0000612617" "0" "30" "10" "73545381" "73545381" "subst" "1.46436E-5" "01943" "CDH23_000790" "g.73545381A>T" "" "" "" "CDH23(NM_022124.5):c.5713-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71785624A>T" "" "likely benign" "" "0000612618" "0" "90" "10" "73553078" "73553078" "del" "0" "01943" "CDH23_000791" "g.73553078del" "" "" "" "CDH23(NM_022124.5):c.6393delC (p.I2132Sfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71793321del" "" "pathogenic" "" "0000612619" "0" "30" "10" "73556957" "73556957" "subst" "0.000396949" "01943" "CDH23_000794" "g.73556957G>A" "" "" "" "CDH23(NM_022124.5):c.6809G>A (p.R2270H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71797200G>A" "" "likely benign" "" "0000612620" "0" "90" "10" "73558307" "73558307" "del" "0" "02330" "CDH23_000795" "g.73558307del" "" "" "" "CDH23(NM_022124.6):c.7026delG (p.Y2343Mfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71798550del" "" "pathogenic" "" "0000612621" "0" "50" "10" "73559261" "73559261" "subst" "0" "02327" "CDH23_000796" "g.73559261G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71799504G>A" "" "VUS" "" "0000612622" "0" "50" "10" "73562724" "73562724" "subst" "7.71605E-5" "01943" "CDH23_000797" "g.73562724G>A" "" "" "" "CDH23(NM_022124.5):c.7552G>A (p.V2518M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71802967G>A" "" "VUS" "" "0000612623" "0" "50" "10" "73563128" "73563128" "subst" "0.000670587" "02327" "CDH23_000132" "g.73563128G>A" "" "" "" "CDH23(NM_022124.5):c.7823G>A (p.R2608H), CDH23(NM_022124.6):c.7823G>A (p.(Arg2608His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71803371G>A" "" "VUS" "" "0000612624" "0" "30" "10" "73567019" "73567019" "subst" "0" "02330" "CDH23_000798" "g.73567019C>A" "" "" "" "CDH23(NM_022124.6):c.8179-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71807262C>A" "" "likely benign" "" "0000612625" "0" "30" "10" "73572093" "73572093" "subst" "0.000321337" "02330" "CDH23_000768" "g.73572093C>A" "" "" "" "CDH23(NM_001171935.1):c.45C>A (p.T15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71812336C>A" "" "likely benign" "" "0000612626" "0" "50" "10" "73573037" "73573037" "subst" "0.000844628" "01943" "CDH23_000583" "g.73573037C>T" "" "" "" "CDH23(NM_001171933.1):c.2950C>T (p.(Arg984Trp)), CDH23(NM_022124.5):c.9670C>T (p.R3224W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71813280C>T" "" "VUS" "" "0000612627" "0" "30" "10" "73574837" "73574837" "subst" "2.50949E-5" "01943" "CDH23_000801" "g.73574837G>A" "" "" "" "CDH23(NM_022124.5):c.9867G>A (p.T3289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71815080G>A" "" "likely benign" "" "0000622410" "0" "30" "10" "73270860" "73270860" "subst" "0.000487361" "02330" "CDH23_000779" "g.73270860C>T" "" "" "" "CDH23(NM_022124.6):c.337-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71511103C>T" "" "likely benign" "" "0000622411" "0" "50" "10" "73442210" "73442210" "subst" "0.00022722" "01943" "CDH23_000782" "g.73442210G>A" "" "" "" "CDH23(NM_022124.5):c.1867G>A (p.V623I), CDH23(NM_022124.6):c.1867G>A (p.(Val623Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71682453G>A" "" "VUS" "" "0000622412" "0" "50" "10" "73462429" "73462429" "subst" "0.000255883" "01943" "CDH23_000498" "g.73462429C>T" "" "" "" "CDH23(NM_022124.5):c.2711C>T (p.P904L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71702672C>T" "" "VUS" "" "0000622413" "0" "70" "10" "73483860" "73483860" "dup" "0" "01943" "CDH23_000611" "g.73483860dup" "" "" "" "CDH23(NM_022124.5):c.3428dupA (p.H1143Qfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71724103dup" "" "likely pathogenic" "" "0000622414" "0" "10" "10" "73490271" "73490271" "subst" "0.010663" "02330" "CDH23_000091" "g.73490271A>G" "" "" "" "C10orf105(NM_001168390.2):c.-6+7214T>C, CDH23(NM_022124.6):c.3625A>G (p.T1209A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71730514A>G" "" "benign" "" "0000622415" "0" "90" "10" "73490352" "73490352" "subst" "4.06759E-6" "01943" "CDH23_000614" "g.73490352C>T" "" "" "" "CDH23(NM_022124.5):c.3706C>T (p.R1236*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71730595C>T" "" "pathogenic" "" "0000622416" "0" "10" "10" "73537466" "73537466" "subst" "0.000813315" "02330" "CDH23_000513" "g.73537466G>A" "" "" "" "CDH23(NM_022124.5):c.4875G>A (p.V1625=), CDH23(NM_022124.6):c.4875G>A (p.V1625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71777709G>A" "" "benign" "" "0000622418" "0" "70" "10" "73550170" "73550170" "subst" "2.90587E-5" "02330" "CDH23_000046" "g.73550170G>A" "" "" "" "CDH23(NM_022124.6):c.6049G>A (p.G2017S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71790413G>A" "" "likely pathogenic" "" "0000622419" "0" "30" "10" "73553138" "73553138" "subst" "0.000195013" "01943" "CDH23_000792" "g.73553138C>A" "" "" "" "CDH23(NM_022124.5):c.6453C>A (p.T2151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71793381C>A" "" "likely benign" "" "0000622420" "0" "10" "10" "73553372" "73553372" "subst" "0.00135923" "02330" "CDH23_000793" "g.73553372C>T" "" "" "" "CDH23(NM_022124.6):c.6687C>T (p.D2229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71793615C>T" "" "benign" "" "0000622421" "0" "30" "10" "73571731" "73571731" "subst" "1.21879E-5" "01943" "CDH23_000799" "g.73571731C>T" "" "" "" "CDH23(NM_022124.5):c.9339C>T (p.D3113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71811974C>T" "" "likely benign" "" "0000622422" "0" "90" "10" "73572354" "73572354" "dup" "0" "01943" "CDH23_000800" "g.73572354dup" "" "" "" "CDH23(NM_022124.5):c.9498dupC (p.T3167Hfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71812597dup" "" "pathogenic" "" "0000622423" "0" "30" "10" "73579291" "73579291" "subst" "0.000410136" "01943" "CDH23_000802" "g.73579291G>A" "" "" "" "PSAP(NM_001042465.2):c.1290C>T (p.S430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71819534G>A" "" "likely benign" "" "0000647962" "1" "10" "10" "73269866" "73269866" "subst" "0.0044103" "03575" "CDH23_000249" "g.73269866A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs61732490}" "Germline" "" "rs61732490" "0" "" "" "g.71510109A>G" "" "benign" "" "0000647963" "1" "50" "10" "73270925" "73270925" "subst" "0.000239623" "03575" "CDH23_000682" "g.73270925G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs200328570}" "Germline" "" "rs200328570" "0" "" "" "g.71511168G>A" "" "VUS" "" "0000647964" "1" "50" "10" "73270926" "73270926" "subst" "7.31042E-5" "03575" "CDH23_000803" "g.73270926C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs183046743}" "Germline" "" "rs183046743" "0" "" "" "g.71511169C>T" "" "VUS" "" "0000647965" "1" "30" "10" "73326620" "73326620" "subst" "0.00013001" "03575" "CDH23_000217" "g.73326620G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs201132251}" "Germline" "" "rs201132251" "0" "" "" "g.71566863G>A" "" "likely benign" "" "0000647966" "1" "30" "10" "73377112" "73377112" "subst" "0.00729672" "03575" "CDH23_000039" "g.73377112G>A" "7/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs143282422}" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "likely benign" "" "0000647967" "1" "30" "10" "73406348" "73406348" "subst" "0.00321661" "03575" "CDH23_000390" "g.73406348G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs62622410}" "Germline" "" "rs62622410" "0" "" "" "g.71646591G>A" "" "likely benign" "" "0000647968" "1" "50" "10" "73442210" "73442210" "subst" "0.00022722" "03575" "CDH23_000782" "g.73442210G>A" "8/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs143782870}" "Germline" "" "rs143782870" "0" "" "" "g.71682453G>A" "" "VUS" "" "0000647969" "1" "50" "10" "73453990" "73453990" "subst" "0.00218662" "03575" "CDH23_000111" "g.73453990C>T" "37/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 37 heterozygous, no homozygous; {DB:CLININrs181255269}" "Germline" "" "rs181255269" "0" "" "" "g.71694233C>T" "" "VUS" "" "0000647970" "1" "50" "10" "73464764" "73464764" "subst" "0.0012298" "03575" "CDH23_000607" "g.73464764A>G" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 9 heterozygous; {DB:CLININrs188098974}" "Germline" "" "rs188098974" "0" "" "" "g.71705007A>G" "" "VUS" "" "0000647971" "1" "10" "10" "73490310" "73490310" "subst" "0.0210478" "03575" "CDH23_000183" "g.73490310G>A" "55/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "55 heterozygous, no homozygous; {DB:CLININrs41281316}" "Germline" "" "rs41281316" "0" "" "" "g.71730553G>A" "" "benign" "" "0000647972" "1" "90" "10" "73498354" "73498354" "subst" "4.06379E-6" "03575" "CDH23_000047" "g.73498354C>T" "1/2781 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397517329}" "Germline" "" "rs397517329" "0" "" "" "g.71738597C>T" "" "pathogenic" "" "0000647973" "1" "10" "10" "73498355" "73498355" "subst" "0.0356353" "03575" "CDH23_000029" "g.73498355G>A" "187/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "187 heterozygous; {DB:CLININrs56181447}" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000647974" "1" "30" "10" "73500599" "73500599" "subst" "0.048315" "03575" "CDH23_000089" "g.73500599C>T" "155/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "155 heterozygous; {DB:CLININrs10999978}" "Germline" "" "rs10999978" "0" "" "" "g.71740842C>T" "" "likely benign" "" "0000647975" "1" "10" "10" "73537449" "73537449" "subst" "0.0173057" "03575" "CDH23_000365" "g.73537449G>A" "200/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "200 heterozygous; {DB:CLININrs41281330}" "Germline" "" "rs41281330" "0" "" "" "g.71777692G>A" "" "benign" "" "0000647976" "1" "50" "10" "73538009" "73538009" "subst" "0.000316764" "03575" "CDH23_000340" "g.73538009G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; {DB:CLININrs181611778}" "Germline" "" "rs181611778" "0" "" "" "g.71778252G>A" "" "VUS" "" "0000647977" "1" "50" "10" "73539064" "73539064" "subst" "0.000199011" "03575" "CDH23_000804" "g.73539064C>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs191021194}" "Germline" "" "rs191021194" "0" "" "" "g.71779307C>A" "" "VUS" "" "0000647978" "1" "10" "10" "73544094" "73544094" "subst" "0.000678443" "03575" "CDH23_000336" "g.73544094G>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs143993990}" "Germline" "" "rs143993990" "0" "" "" "g.71784337G>A" "" "benign" "" "0000647979" "1" "90" "10" "73544858" "73544858" "subst" "0" "03575" "CDH23_000805" "g.73544858G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397517341}" "Germline" "" "rs397517341" "0" "" "" "g.71785101G>A" "" "pathogenic" "" "0000647980" "1" "70" "10" "73550170" "73550170" "subst" "2.90587E-5" "03575" "CDH23_000046" "g.73550170G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs183431253}" "Germline" "" "rs183431253" "0" "" "" "g.71790413G>A" "" "likely pathogenic" "" "0000647981" "1" "10" "10" "73556957" "73556957" "subst" "0.000396949" "03575" "CDH23_000794" "g.73556957G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs139409005}" "Germline" "" "rs139409005" "0" "" "" "g.71797200G>A" "" "benign" "" "0000647982" "1" "30" "10" "73558128" "73558128" "subst" "0.0552239" "03575" "CDH23_000197" "g.73558128G>A" "169/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "169 heterozygous; {DB:CLININrs41281334}" "Germline" "" "rs41281334" "0" "" "" "g.71798371G>A" "" "likely benign" "" "0000647983" "1" "50" "10" "73560498" "73560498" "subst" "0.00030891" "03575" "CDH23_000549" "g.73560498G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs41281336}" "Germline" "" "rs41281336" "0" "" "" "g.71800741G>A" "" "VUS" "" "0000647984" "1" "30" "10" "73563067" "73563067" "subst" "0.00917713" "03575" "CDH23_000552" "g.73563067G>C" "118/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "118 heterozygous; {DB:CLININrs41281338}" "Germline" "" "rs41281338" "0" "" "" "g.71803310G>C" "" "likely benign" "" "0000647985" "1" "30" "10" "73567365" "73567365" "subst" "0.000264223" "03575" "CDH23_000348" "g.73567365T>G" "3/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs3802707}" "Germline" "" "rs3802707" "0" "" "" "g.71807608T>G" "" "likely benign" "" "0000647986" "1" "50" "10" "73572538" "73572538" "subst" "0.000278494" "03575" "CDH23_000161" "g.73572538G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs140884994}" "Germline" "" "rs140884994" "0" "" "" "g.71812781G>A" "" "VUS" "" "0000647987" "1" "50" "10" "73572579" "73572579" "subst" "1.63296E-5" "03575" "CDH23_000169" "g.73572579C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs121908353}" "Germline" "" "rs121908353" "0" "" "" "g.71812822C>T" "" "VUS" "" "0000647988" "1" "30" "10" "73574728" "73574728" "subst" "0.00290095" "03575" "CDH23_000585" "g.73574728A>C" "42/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "42 heterozygous, no homozygous; {DB:CLININrs140463385}" "Germline" "" "rs140463385" "0" "" "" "g.71814971A>C" "" "likely benign" "" "0000647989" "1" "50" "10" "73575550" "73575550" "subst" "0" "03575" "CDH23_000806" "g.73575550C>A" "13/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 13 heterozygous; {DB:CLININrs16929375}" "Germline" "" "rs16929375" "0" "" "" "g.71815793C>A" "" "VUS" "" "0000656535" "0" "30" "10" "73462430" "73462430" "subst" "0.000787926" "01943" "CDH23_000807" "g.73462430G>A" "" "" "" "CDH23(NM_022124.5):c.2712G>A (p.P904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71702673G>A" "" "likely benign" "" "0000656536" "0" "50" "10" "73466767" "73466767" "subst" "0" "01943" "CDH23_000808" "g.73466767G>A" "" "" "" "CDH23(NM_022124.5):c.3067G>A (p.D1023N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71707010G>A" "" "VUS" "" "0000656537" "0" "30" "10" "73491943" "73491943" "subst" "4.47435E-5" "01943" "CDH23_000809" "g.73491943C>T" "" "" "" "CDH23(NM_022124.5):c.3915C>T (p.N1305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71732186C>T" "" "likely benign" "" "0000656538" "0" "30" "10" "73498332" "73498332" "subst" "0.00025183" "01943" "CDH23_000289" "g.73498332C>T" "" "" "" "CDH23(NM_022124.5):c.4287C>T (p.P1429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71738575C>T" "" "likely benign" "" "0000656539" "0" "30" "10" "73537629" "73537629" "subst" "9.7515E-5" "01943" "CDH23_000810" "g.73537629G>A" "" "" "" "CDH23(NM_022124.5):c.5038G>A (p.V1680I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71777872G>A" "" "likely benign" "" "0000656540" "0" "50" "10" "73544177" "73544177" "subst" "2.46301E-5" "01943" "CDH23_000811" "g.73544177A>G" "" "" "" "CDH23(NM_022124.5):c.5502A>G (p.T1834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71784420A>G" "" "VUS" "" "0000656541" "0" "50" "10" "73562743" "73562743" "subst" "1.62458E-5" "01943" "CDH23_000812" "g.73562743C>T" "" "" "" "CDH23(NM_022124.5):c.7571C>T (p.A2524V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71802986C>T" "" "VUS" "" "0000656542" "0" "50" "10" "73570263" "73570263" "subst" "1.21831E-5" "01804" "CDH23_000270" "g.73570263C>T" "" "" "" "CDH23(NM_001171933.1):c.2294C>T (p.(Ala765Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71810506C>T" "" "VUS" "" "0000663573" "1" "50" "10" "73567275" "73567275" "subst" "0.00038389" "00006" "CDH23_000122" "g.73567275G>A" "" "{PMID:Arno 2017:28132693}" "" "ENST00000398788.3:c.1591G>A" "heterozygous variant only, does not fit phenotype" "Germline" "" "" "0" "" "" "g.71807518G>A" "" "VUS" "" "0000669073" "3" "50" "10" "73464764" "73464764" "subst" "0.0012298" "03575" "CDH23_000607" "g.73464764A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs188098974}" "Germline" "" "rs188098974" "0" "" "" "g.71705007A>G" "" "VUS" "" "0000669074" "3" "10" "10" "73498355" "73498355" "subst" "0.0356353" "03575" "CDH23_000029" "g.73498355G>A" "14/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 homozygous; {DB:CLININrs56181447}" "Germline" "" "rs56181447" "0" "" "" "g.71738598G>A" "" "benign" "" "0000669075" "3" "30" "10" "73500599" "73500599" "subst" "0.048315" "03575" "CDH23_000089" "g.73500599C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs10999978}" "Germline" "" "rs10999978" "0" "" "" "g.71740842C>T" "" "likely benign" "" "0000669076" "3" "10" "10" "73537449" "73537449" "subst" "0.0173057" "03575" "CDH23_000365" "g.73537449G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs41281330}" "Germline" "" "rs41281330" "0" "" "" "g.71777692G>A" "" "benign" "" "0000669077" "3" "30" "10" "73558128" "73558128" "subst" "0.0552239" "03575" "CDH23_000197" "g.73558128G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs41281334}" "Germline" "" "rs41281334" "0" "" "" "g.71798371G>A" "" "likely benign" "" "0000669078" "3" "30" "10" "73563067" "73563067" "subst" "0.00917713" "03575" "CDH23_000552" "g.73563067G>C" "5/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs41281338}" "Germline" "" "rs41281338" "0" "" "" "g.71803310G>C" "" "likely benign" "" "0000669079" "3" "50" "10" "73575550" "73575550" "subst" "0" "03575" "CDH23_000806" "g.73575550C>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs16929375}" "Germline" "" "rs16929375" "0" "" "" "g.71815793C>A" "" "VUS" "" "0000674884" "3" "90" "10" "73455219" "73455219" "subst" "0" "03388" "CDH23_000813" "g.73455219G>A" "" "" "" "" "" "Unknown" "yes" "" "0" "" "" "g.71695462G>A" "" "likely pathogenic (recessive)" "ACMG" "0000678889" "0" "50" "10" "73405660" "73405660" "subst" "8.1322E-5" "01943" "CDH23_000814" "g.73405660G>A" "" "" "" "CDH23(NM_022124.5):c.1213G>A (p.V405I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678890" "0" "50" "10" "73437316" "73437316" "subst" "1.24492E-5" "01943" "CDH23_000815" "g.73437316G>A" "" "" "" "CDH23(NM_022124.5):c.1618G>A (p.G540S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678891" "0" "50" "10" "73450287" "73450287" "subst" "2.07237E-5" "01804" "CDH23_000816" "g.73450287T>G" "" "" "" "CDH23(NM_001171930.1):c.2122T>G (p.(Ser708Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678892" "0" "50" "10" "73466695" "73466695" "subst" "8.62835E-5" "01943" "CDH23_000817" "g.73466695G>A" "" "" "" "CDH23(NM_022124.5):c.2995G>A (p.V999M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678893" "0" "30" "10" "73468948" "73468948" "subst" "0" "01943" "CDH23_000818" "g.73468948T>C" "" "" "" "CDH23(NM_022124.5):c.3200T>C (p.M1067T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678894" "0" "30" "10" "73539045" "73539045" "subst" "4.06121E-6" "01943" "CDH23_000673" "g.73539045A>G" "" "" "" "CDH23(NM_022124.5):c.5209A>G (p.I1737V), CDH23(NM_022124.6):c.5209A>G (p.I1737V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678895" "0" "90" "10" "73544075" "73544075" "dup" "0" "02330" "CDH23_000819" "g.73544075dup" "" "" "" "CDH23(NM_022124.6):c.5400dupG (p.L1801Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678896" "0" "30" "10" "73548747" "73548747" "subst" "0.000446788" "01943" "CDH23_000820" "g.73548747C>G" "" "" "" "CDH23(NM_022124.5):c.5871C>G (p.P1957=), CDH23(NM_022124.6):c.5871C>G (p.P1957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678897" "0" "30" "10" "73565684" "73565684" "subst" "8.15867E-6" "01943" "CDH23_000821" "g.73565684T>C" "" "" "" "CDH23(NM_022124.5):c.7994T>C (p.I2665T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678898" "0" "30" "10" "73569677" "73569677" "subst" "0.000477072" "01943" "CDH23_000564" "g.73569677C>T" "" "" "" "CDH23(NM_022124.5):c.8823C>T (p.N2941=), CDH23(NM_022124.6):c.8823C>T (p.N2941=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678899" "0" "50" "10" "73571179" "73571179" "subst" "4.06494E-6" "01943" "CDH23_000822" "g.73571179T>C" "" "" "" "CDH23(NM_022124.5):c.9185T>C (p.M3062T), CDH23(NM_022124.6):c.9185T>C (p.(Met3062Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678900" "0" "30" "10" "73575003" "73575003" "subst" "2.61497E-5" "01943" "CDH23_000823" "g.73575003A>C" "" "" "" "CDH23(NM_022124.5):c.10033A>C (p.M3345L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684509" "1" "70" "10" "73544857" "73544857" "subst" "8.15089E-6" "00004" "CDH23_000008" "g.73544857G>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000684623" "3" "70" "10" "73500642" "73500642" "del" "0" "00004" "CDH23_000827" "g.73500642del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.71740885del" "" "likely pathogenic (recessive)" "" "0000684833" "1" "90" "10" "73499529" "73499529" "subst" "0" "00004" "CDH23_000003" "g.73499529G>C" "" "{PMID:Santana 2019:31231422}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000684834" "3" "90" "10" "73499529" "73499529" "subst" "0" "00004" "CDH23_000003" "g.73499529G>C" "" "{PMID:Santana 2019:31231422}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000684835" "3" "90" "10" "73499529" "73499529" "subst" "0" "00004" "CDH23_000003" "g.73499529G>C" "" "{PMID:Santana 2019:31231422}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000684836" "1" "90" "10" "73499529" "73499529" "subst" "0" "00004" "CDH23_000003" "g.73499529G>C" "" "{PMID:Santana 2019:31231422}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000684840" "3" "90" "10" "73499529" "73499529" "subst" "0" "00004" "CDH23_000003" "g.73499529G>C" "" "{PMID:Santana 2019:31231422}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000684843" "2" "90" "10" "73563035" "73563039" "del" "0" "00004" "CDH23_000830" "g.73563035_73563039del" "" "{PMID:Santana 2019:31231422}" "" "c.7730_7734delTCAGT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000684844" "2" "90" "10" "73437322" "73437322" "subst" "0" "00004" "CDH23_000824" "g.73437322G>T" "" "{PMID:Santana 2019:31231422}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685072" "0" "90" "10" "73539147" "73539147" "subst" "1.22106E-5" "00004" "CDH23_000828" "g.73539147C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685652" "3" "90" "10" "73550170" "73550170" "subst" "2.90587E-5" "00004" "CDH23_000046" "g.73550170G>A" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.71790413G>A" "" "pathogenic (recessive)" "" "0000685657" "3" "90" "10" "73559034" "73559034" "subst" "0" "00004" "CDH23_000355" "g.73559034C>A" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.71799277C>A" "" "pathogenic (recessive)" "" "0000685673" "1" "50" "10" "73468863" "73468863" "subst" "0.00013826" "00004" "CDH23_000826" "g.73468863G>A" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.71709106G>A" "" "VUS" "" "0000685687" "1" "90" "10" "73550880" "73550880" "subst" "4.96915E-5" "00004" "CDH23_000007" "g.73550880G>A" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.71791123G>A" "" "pathogenic (recessive)" "" "0000685688" "1" "70" "10" "73567426" "73567426" "dup" "0" "00004" "CDH23_000831" "g.73567426dup" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "c.8462dupT" "" "Germline" "" "" "0" "" "" "g.71807669dup" "" "likely pathogenic (recessive)" "" "0000685700" "1" "70" "10" "73559303" "73559303" "del" "0" "00004" "CDH23_000829" "g.73559303del" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "c.7279delA" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.71799546del" "" "likely pathogenic" "" "0000685717" "2" "70" "10" "73466707" "73466707" "subst" "0" "00004" "CDH23_000825" "g.73466707T>C" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.71706950T>C" "" "likely pathogenic (recessive)" "" "0000685725" "2" "90" "10" "73499529" "73499529" "subst" "0" "00004" "CDH23_000003" "g.73499529G>C" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.71739772G>C" "" "pathogenic (recessive)" "" "0000690753" "0" "30" "10" "73326643" "73326643" "subst" "0.000686869" "01943" "CDH23_000593" "g.73326643G>C" "" "" "" "CDH23(NM_022124.5):c.574G>C (p.E192Q), CDH23(NM_022124.6):c.574G>C (p.E192Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690754" "0" "30" "10" "73377039" "73377039" "subst" "0" "01943" "CDH23_000832" "g.73377039C>T" "" "" "" "CDH23(NM_022124.5):c.1023C>T (p.I341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690755" "0" "50" "10" "73406294" "73406294" "subst" "4.06108E-6" "01943" "CDH23_000288" "g.73406294C>T" "" "" "" "CDH23(NM_022124.5):c.1369C>T (p.R457W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690756" "0" "50" "10" "73499432" "73499432" "subst" "0.000200525" "01943" "CDH23_000833" "g.73499432C>T" "" "" "" "CDH23(NM_022124.5):c.4391C>T (p.A1464V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690757" "0" "50" "10" "73501505" "73501505" "subst" "1.64617E-5" "01943" "CDH23_000834" "g.73501505G>A" "" "" "" "CDH23(NM_022124.5):c.4672G>A (p.G1558R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690758" "0" "50" "10" "73501614" "73501614" "subst" "2.09781E-5" "01943" "CDH23_000835" "g.73501614G>A" "" "" "" "CDH23(NM_022124.5):c.4781G>A (p.R1594H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690759" "0" "50" "10" "73539159" "73539159" "subst" "0" "01943" "CDH23_000836" "g.73539159C>T" "" "" "" "CDH23(NM_022124.5):c.5323C>T (p.P1775S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690760" "0" "30" "10" "73548795" "73548795" "subst" "4.49013E-5" "01943" "CDH23_000837" "g.73548795C>T" "" "" "" "CDH23(NM_022124.5):c.5919C>T (p.P1973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690761" "0" "50" "10" "73553214" "73553214" "subst" "0" "01943" "CDH23_000838" "g.73553214C>A" "" "" "" "CDH23(NM_022124.5):c.6529C>A (p.P2177T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690762" "0" "50" "10" "73553272" "73553272" "subst" "0" "01943" "CDH23_000839" "g.73553272T>A" "" "" "" "CDH23(NM_022124.5):c.6587T>A (p.I2196N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690763" "0" "50" "10" "73558872" "73558872" "subst" "8.158E-6" "01943" "CDH23_000840" "g.73558872G>T" "" "" "" "CDH23(NM_022124.5):c.7059G>T (p.K2353N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690764" "0" "50" "10" "73563143" "73563143" "subst" "0" "01943" "CDH23_000841" "g.73563143G>A" "" "" "" "CDH23(NM_022124.5):c.7838G>A (p.R2613H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690765" "0" "50" "10" "73563181" "73563181" "subst" "0" "01943" "CDH23_000842" "g.73563181C>G" "" "" "" "CDH23(NM_022124.5):c.7872+4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690766" "0" "50" "10" "73567371" "73567371" "subst" "0.000134173" "01943" "CDH23_000843" "g.73567371G>A" "" "" "" "CDH23(NM_022124.5):c.8407G>A (p.V2803I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690767" "0" "70" "10" "73572538" "73572538" "subst" "0.000278494" "01943" "CDH23_000161" "g.73572538G>A" "" "" "" "CDH23(NM_022124.5):c.9524G>A (p.R3175H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690768" "0" "50" "10" "73572595" "73572595" "subst" "4.07189E-6" "01943" "CDH23_000844" "g.73572595A>T" "" "" "" "CDH23(NM_022124.5):c.9581A>T (p.E3194V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690769" "0" "50" "10" "73573061" "73573061" "subst" "0" "01943" "CDH23_000845" "g.73573061C>G" "" "" "" "CDH23(NM_022124.5):c.9694C>G (p.R3232G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000698054" "3" "90" "10" "73539073" "73539073" "subst" "6.09305E-5" "00006" "CDH23_000002" "g.73539073G>A" "" "{DOI:Kannan-Sundhari 2020:32991204}" "" "" "" "Germline" "" "rs111033270" "0" "" "" "g.71779316G>A" "" "pathogenic (recessive)" "" "0000698277" "21" "70" "10" "73537600" "73537600" "subst" "6.09241E-5" "03829" "CDH23_000846" "g.73537600T>A" "" "" "" "" "" "Germline" "yes" "rs397517333" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000698278" "2" "90" "10" "73464686" "73464686" "subst" "8.19726E-6" "03829" "CDH23_000374" "g.73464686G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000704399" "0" "50" "10" "73565593" "73565593" "subst" "2.85558E-5" "03779" "CDH23_000337" "g.73565593G>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs763721044" "0" "" "" "" "" "VUS" "" "0000712229" "0" "50" "10" "73491863" "73491863" "subst" "0" "03611" "CDH23_000848" "g.73491863T>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712238" "0" "50" "10" "73466775" "73466775" "del" "0" "03611" "CDH23_000849" "g.73466775delC" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712246" "0" "50" "10" "73563112" "73563112" "subst" "0" "03611" "CDH23_000847" "g.73563112C>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712247" "0" "50" "10" "73563112" "73563112" "subst" "0" "03611" "CDH23_000847" "g.73563112G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712287" "0" "50" "10" "73485194" "73485194" "del" "0" "03611" "CDH23_000850" "g.73485194delT" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712288" "0" "50" "10" "73567487" "73567487" "subst" "0" "03611" "CDH23_000851" "g.73567487C>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712292" "0" "50" "10" "73565613" "73565613" "subst" "0" "03611" "CDH23_000852" "g.73565613T>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712293" "0" "50" "10" "73269980" "73269980" "subst" "0" "03611" "CDH23_000853" "g.73269980A>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712294" "0" "50" "10" "73492032" "73492032" "subst" "0" "03611" "CDH23_000853" "g.73492032A>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712295" "0" "50" "10" "73269980" "73269980" "subst" "0" "03611" "CDH23_000854" "g.73269980T>C" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712296" "0" "50" "10" "73492032" "73492032" "subst" "4.08483E-6" "03611" "CDH23_000854" "g.73492032T>C" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712567" "0" "50" "10" "73337684" "73337684" "subst" "0.000619345" "03980" "CDH23_000476" "g.73337684G>A" "5.40E-04" "Doucette 2021, submitted" "" "" "Was noted as heterozygous in this patient. As CDH23 can cause non-syndromic hearing loss, we took interest in variations in this gene due to the hearing loss noted in the patient." "Germline" "" "rs371646164" "0" "" "" "" "{CV:752696}" "VUS" "" "0000712568" "3" "50" "10" "73453990" "73453990" "subst" "0.00218662" "03980" "CDH23_000111" "g.73453990C>T" "" "Doucette 2021, submitted" "" "" "" "Germline" "yes" "rs181255269" "0" "" "" "g.71694233C>T" "{CV:45891}" "likely benign" "" "0000712569" "3" "50" "10" "73560445" "73560445" "subst" "0" "03980" "CDH23_000855" "g.73560445T>A" "" "Doucette 2021, submitted" "" "" "likelynovel variant" "Germline" "yes" "" "0" "" "" "g.71800688T>A" "" "VUS" "" "0000722905" "0" "30" "10" "73206159" "73206159" "subst" "0.000117804" "01943" "CDH23_000856" "g.73206159G>A" "" "" "" "CDH23(NM_022124.5):c.145+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722906" "0" "30" "10" "73270927" "73270927" "subst" "0.000239625" "01943" "CDH23_000469" "g.73270927G>A" "" "" "" "CDH23(NM_022124.5):c.387G>A (p.A129=), CDH23(NM_022124.6):c.387G>A (p.A129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722907" "0" "50" "10" "73326643" "73326643" "subst" "0.000686869" "02329" "CDH23_000593" "g.73326643G>C" "" "" "" "CDH23(NM_022124.5):c.574G>C (p.E192Q), CDH23(NM_022124.6):c.574G>C (p.E192Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722908" "0" "50" "10" "73405600" "73405600" "subst" "8.1361E-6" "01943" "CDH23_000597" "g.73405600A>T" "" "" "" "CDH23(NM_022124.5):c.1153A>T (p.M385L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722909" "0" "50" "10" "73537446" "73537446" "subst" "0" "01943" "CDH23_000858" "g.73537446C>A" "" "" "" "CDH23(NM_022124.5):c.4855C>A (p.H1619N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722910" "0" "30" "10" "73544755" "73544755" "subst" "6.90367E-5" "01943" "CDH23_000859" "g.73544755C>T" "" "" "" "CDH23(NM_022124.5):c.5610C>T (p.V1870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722911" "0" "50" "10" "73553025" "73553025" "subst" "0" "02327" "CDH23_000860" "g.73553025G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722912" "0" "30" "10" "73553333" "73553333" "subst" "0.00122533" "01943" "CDH23_000264" "g.73553333C>T" "" "" "" "CDH23(NM_022124.5):c.6648C>T (p.A2216=), CDH23(NM_022124.6):c.6648C>T (p.A2216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722913" "0" "90" "10" "73553383" "73553383" "del" "0" "02327" "CDH23_000862" "g.73553383del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722914" "0" "50" "10" "73565723" "73565723" "subst" "0" "01943" "CDH23_000863" "g.73565723G>T" "" "" "" "CDH23(NM_022124.5):c.8033G>T (p.R2678L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722915" "0" "50" "10" "73573038" "73573038" "subst" "3.98835E-5" "02325" "CDH23_000865" "g.73573038G>A" "" "" "" "CDH23(NM_022124.6):c.9671G>A (p.R3224Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730133" "1" "70" "10" "73405729" "73405729" "subst" "0.000493454" "00000" "CDH23_000412" "g.73405729G>A" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.71645972G>A" "" "likely pathogenic" "ACMG" "0000730211" "1" "50" "10" "73572268" "73572268" "subst" "4.06471E-6" "00000" "CDH23_000864" "g.73572268C>T" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.71812511C>T" "" "VUS" "ACMG" "0000730212" "1" "50" "10" "73326686" "73326686" "subst" "0.000118771" "00000" "CDH23_000857" "g.73326686A>C" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.71566929A>C" "" "VUS" "ACMG" "0000730251" "2" "70" "10" "73553254" "73553254" "subst" "5.28361E-5" "00000" "CDH23_000861" "g.73553254G>A" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.71793497G>A" "" "likely pathogenic" "ACMG" "0000731089" "0" "50" "10" "73377112" "73377112" "subst" "0.00729672" "00000" "CDH23_000039" "g.73377112G>A" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "VUS" "" "0000731097" "1" "50" "10" "73377112" "73377112" "subst" "0.00729672" "00000" "CDH23_000039" "g.73377112G>A" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs143282422" "0" "" "" "g.71617355G>A" "" "VUS" "" "0000731098" "2" "50" "10" "73472494" "73472494" "subst" "0.00224305" "00000" "CDH23_000034" "g.73472494A>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs41281310" "0" "" "" "g.71712737A>G" "" "VUS" "" "0000731412" "0" "50" "10" "73537449" "73537449" "subst" "0.0173057" "00000" "CDH23_000365" "g.73537449G>A" "" "{PMID:Eandi 2017:29142287}" "" "" "" "Germline" "" "" "0" "" "" "g.71777692G>A" "" "VUS" "" "0000731415" "0" "50" "10" "73537449" "73537449" "subst" "0.0173057" "00000" "CDH23_000365" "g.73537449G>A" "" "{PMID:Eandi 2017:29142287}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71777692G>A" "" "VUS" "" "0000732447" "0" "90" "10" "73270907" "73270907" "subst" "8.12242E-6" "00000" "CDH23_000867" "g.73270907G>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.71511150G>A" "" "pathogenic" "" "0000732469" "0" "50" "10" "73563027" "73563027" "subst" "0.00249238" "00000" "CDH23_000290" "g.73563027C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.71803270C>T" "" "VUS" "" "0000732478" "0" "50" "10" "73558133" "73558133" "subst" "0.00443908" "00000" "CDH23_000543" "g.73558133G>C" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.71798376G>C" "" "VUS" "" "0000732486" "0" "50" "10" "73556853" "73556853" "subst" "0.000362785" "00000" "CDH23_000743" "g.73556853G>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.71797096G>A" "" "VUS" "" "0000732487" "0" "50" "10" "73574996" "73574996" "subst" "0.000386028" "00000" "CDH23_000778" "g.73574996C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.71815239C>T" "" "VUS" "" "0000732516" "0" "90" "10" "73558945" "73558945" "subst" "2.84271E-5" "00000" "CDH23_000868" "g.73558945G>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.71799188G>A" "" "pathogenic" "" "0000733238" "3" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Stone 2017:28559085}" "" "5252G>A Arg1751GlnCGG>CAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000733239" "1" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Stone 2017:28559085}" "" "4303G>A Glu1435LysGAG>AAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000733240" "0" "70" "10" "73269907" "73269907" "subst" "0" "00000" "CDH23_000866" "g.73269907G>T" "" "{PMID:Stone 2017:28559085}" "" "Glu72StopGAG>TAG" "" "Germline" "" "" "0" "" "" "g.71510150G>T" "" "likely pathogenic" "" "0000733241" "1" "70" "10" "73270759" "73270759" "subst" "6.90417E-5" "00000" "CDH23_000109" "g.73270759G>A" "" "{PMID:Stone 2017:28559085}" "" "IVS5+1G>A" "" "Germline" "" "" "0" "" "" "g.71511002G>A" "" "likely pathogenic" "" "0000733654" "2" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Stone 2017:28559085}" "" "5841T>G Tyr1947StopTAT>TAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000733655" "2" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Stone 2017:28559085}" "" "892G>T Gly298StopGGA>TGA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000733656" "2" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Stone 2017:28559085}" "" "IVS51+5G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000735597" "0" "90" "10" "73437201" "73437201" "subst" "2.24404E-5" "00000" "CDH23_000679" "g.73437201G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.71677444G>A" "" "pathogenic" "" "0000735598" "3" "90" "10" "73552970" "73552970" "dup" "0" "00000" "CDH23_000637" "g.73552970dup" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.71793213dup" "" "pathogenic" "" "0000735721" "0" "90" "10" "73483860" "73483860" "dup" "0" "00000" "CDH23_000451" "g.73483860dup" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.71724103dup" "" "pathogenic" "" "0000735855" "1" "70" "10" "73544691" "73544691" "del" "0" "00000" "CDH23_000869" "g.73544691del" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71784934del" "" "likely pathogenic" "" "0000735875" "2" "70" "10" "73560513" "73560513" "subst" "0" "00000" "CDH23_000436" "g.73560513G>A" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71800756G>A" "" "likely pathogenic" "" "0000736041" "0" "70" "10" "73565606" "73565606" "subst" "0" "03779" "CDH23_000211" "g.73565606A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000736048" "0" "50" "10" "73563128" "73563128" "subst" "0.000670587" "03779" "CDH23_000132" "g.73563128G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs202052174" "0" "" "" "" "" "VUS" "" "0000736644" "3" "90" "10" "73553202" "73553202" "subst" "8.13345E-6" "00000" "CDH23_000871" "g.73553202G>T" "" "{PMID:Dad 2016:27957503}" "" "" "" "Germline" "" "" "0" "" "" "g.71793445G>T" "" "pathogenic (recessive)" "" "0000736645" "3" "90" "10" "73553202" "73553202" "subst" "8.13345E-6" "00000" "CDH23_000871" "g.73553202G>T" "" "{PMID:Dad 2016:27957503}" "" "" "" "Germline" "" "" "0" "" "" "g.71793445G>T" "" "pathogenic (recessive)" "" "0000736646" "3" "90" "10" "73500577" "73500577" "subst" "0" "00000" "CDH23_000181" "g.73500577A>C" "" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "" "4489-2A>C (IVS35-2A>C)" "" "Germline" "" "" "0" "" "" "g.71740820A>C" "" "pathogenic (recessive)" "" "0000736654" "3" "90" "10" "73550880" "73550880" "subst" "4.96915E-5" "00000" "CDH23_000007" "g.73550880G>A" "" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "" "6050-9G>A (IVS45-9G>A)" "" "Germline" "" "" "0" "" "" "g.71791123G>A" "" "pathogenic (recessive)" "" "0000736655" "3" "90" "10" "73563177" "73563177" "subst" "0" "00000" "CDH23_000104" "g.73563177G>A" "" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "" "" "" "Germline" "" "" "0" "" "" "g.71803420G>A" "" "pathogenic (recessive)" "" "0000736656" "3" "90" "10" "73563177" "73563177" "subst" "0" "00000" "CDH23_000104" "g.73563177G>A" "" "Tranebjaerg 2011, {PMID:Dad 2016:27957503}" "" "" "" "Germline" "" "" "0" "" "" "g.71803420G>A" "" "pathogenic (recessive)" "" "0000736665" "3" "90" "10" "73491890" "73491890" "subst" "0" "00000" "CDH23_000870" "g.73491890C>T" "" "{PMID:Dad 2016:27957503}" "" "" "" "Germline" "" "" "0" "" "" "g.71732133C>T" "" "pathogenic (recessive)" "" "0000759966" "0" "50" "10" "73563053" "73563053" "subst" "0" "00000" "CDH23_000875" "g.73563053C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.71803296C>T" "" "VUS" "" "0000760042" "0" "50" "10" "73462432" "73462432" "subst" "1.21851E-5" "00000" "CDH23_000873" "g.73462432C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.71702675C>T" "" "VUS" "" "0000760045" "0" "50" "10" "73406232" "73406232" "subst" "0.00278516" "00000" "CDH23_000234" "g.73406232G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.71646475G>A" "" "VUS" "" "0000760075" "0" "50" "10" "73491873" "73491873" "subst" "0.00291179" "00000" "CDH23_000226" "g.73491873A>G" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.71732116A>G" "" "VUS" "" "0000760400" "0" "50" "10" "73461778" "73461778" "subst" "4.07335E-6" "00000" "CDH23_000872" "g.73461778G>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.71702021G>T" "" "VUS" "" "0000760530" "0" "50" "10" "73565598" "73565598" "subst" "0" "00000" "CDH23_000876" "g.73565598C>G" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.71805841C>G" "" "VUS" "" "0000760660" "1" "90" "10" "73545491" "73545491" "subst" "0" "00000" "CDH23_000874" "g.73545491G>A" "" "{PMID:Bravo-Gil 2016:27032803}" "" "" "" "Germline" "" "" "0" "" "" "g.71785734G>A" "" "pathogenic" "" "0000760678" "2" "90" "10" "73559034" "73559034" "subst" "0" "00000" "CDH23_000355" "g.73559034C>A" "" "{PMID:Bravo-Gil 2016:27032803}" "" "" "" "Germline" "" "" "0" "" "" "g.71799277C>A" "" "pathogenic" "" "0000763420" "3" "70" "10" "73565611" "73565611" "subst" "0" "02404" "CDH23_000877" "g.73565611G>A" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000765224" "1" "70" "10" "73406336" "73406337" "delins" "0" "00000" "CDH23_000878" "g.73406336_73406337delinsN[2]" "" "{PMID:Neuhaus 2017:28944237}" "" "1411_1412delins" "" "Germline" "yes" "" "0" "" "" "g.71646579_71646580delinsN[2]" "" "likely pathogenic" "" "0000765225" "3" "70" "10" "73437226" "73437226" "subst" "0" "00000" "CDH23_000879" "g.73437226A>T" "" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71677469A>T" "" "likely pathogenic" "" "0000765226" "3" "70" "10" "73437400" "73437401" "del" "0" "00000" "CDH23_000880" "g.73437400_73437401del" "" "{PMID:Neuhaus 2017:28944237}" "" "1701_1702del" "" "Germline" "" "" "0" "" "" "g.71677643_71677644del" "" "likely pathogenic" "" "0000765227" "3" "70" "10" "73499437" "73499437" "dup" "0" "00000" "CDH23_000881" "g.73499437dup" "" "{PMID:Neuhaus 2017:28944237}" "" "4393dupG" "" "Germline" "yes" "" "0" "" "" "g.71739680dup" "" "likely pathogenic" "" "0000765228" "3" "90" "10" "73550880" "73550880" "subst" "4.96915E-5" "00000" "CDH23_000007" "g.73550880G>A" "" "{PMID:Neuhaus 2017:28944237}" "" "6047-9G>A" "" "Germline" "yes" "" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000765229" "3" "90" "10" "73550880" "73550880" "subst" "4.96915E-5" "00000" "CDH23_000007" "g.73550880G>A" "" "{PMID:Neuhaus 2017:28944237}" "" "6047-9G>A" "" "Germline" "" "" "0" "" "" "g.71791123G>A" "" "pathogenic" "" "0000765238" "3" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Neuhaus 2017:28944237}" "" "dup ex19-27" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000765347" "2" "70" "10" "73491890" "73491890" "subst" "0" "00000" "CDH23_000870" "g.73491890C>T" "" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71732133C>T" "" "likely pathogenic" "" "0000780197" "0" "70" "10" "73466716" "73466716" "subst" "8.58104E-6" "03779" "CDH23_000327" "g.73466716G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs745571683" "0" "" "" "" "" "likely pathogenic" "" "0000784123" "0" "30" "10" "73453990" "73453990" "subst" "0.00218662" "03779" "CDH23_000111" "g.73453990C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs181255269" "0" "" "" "" "" "likely benign" "" "0000785600" "3" "90" "10" "73453990" "73453990" "subst" "0.00218662" "00000" "CDH23_000111" "g.73453990C>T" "" "{PMID:Zaneveld 2015:25474345}" "" "" "" "Germline" "" "" "0" "" "" "g.71694233C>T" "" "pathogenic (recessive)" "" "0000786295" "0" "70" "10" "73499432" "73499432" "subst" "0" "03779" "CDH23_000883" "g.73499432C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs374362883" "0" "" "" "" "" "likely pathogenic" "" "0000786296" "0" "50" "10" "73559333" "73559333" "subst" "1.21833E-5" "03779" "CDH23_000884" "g.73559333A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs747624042" "0" "" "" "" "" "VUS" "" "0000786300" "3" "90" "10" "73553078" "73553078" "del" "0" "00000" "CDH23_000115" "g.73553078del" "" "{PMID:Méndez-Vidal 2014:25494902}" "" "6393delC" "" "Germline" "" "" "0" "" "" "g.71793321del" "" "pathogenic" "" "0000786339" "3" "90" "10" "73539073" "73539073" "subst" "6.09305E-5" "00000" "CDH23_000002" "g.73539073G>A" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000786340" "1" "90" "10" "73569732" "73569732" "subst" "4.0993E-5" "00000" "CDH23_000885" "g.73569732G>A" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.71809975G>A" "" "pathogenic" "" "0000786341" "1" "90" "10" "73560496" "73560496" "subst" "2.43861E-5" "00000" "CDH23_000346" "g.73560496G>A" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.71800739G>A" "" "pathogenic" "" "0000786386" "2" "90" "10" "73270959" "73270959" "subst" "4.06187E-5" "00000" "CDH23_000882" "g.73270959G>A" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.71511202G>A" "" "pathogenic" "" "0000786387" "2" "90" "10" "73539073" "73539073" "subst" "6.09305E-5" "00000" "CDH23_000002" "g.73539073G>A" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000787733" "0" "50" "10" "73453978" "73453978" "subst" "6.51142E-5" "03779" "CDH23_000886" "g.73453978G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs41281306" "0" "" "" "" "" "VUS" "" "0000788069" "0" "50" "10" "73544798" "73544798" "subst" "4.46773E-5" "02404" "CDH23_000634" "g.73544798C>T" "" "" "" "" "This variant was identified as heterozygous in a patient who remained unresolved after exome analysis." "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000788324" "0" "50" "10" "73326515" "73326515" "subst" "3.30795E-5" "00000" "CDH23_000887" "g.73326515C>T" "" "{PMID:Katagiri 2014:25268133}" "" "C446T" "" "Germline" "" "" "0" "" "" "g.71566758C>T" "" "VUS" "" "0000788378" "0" "50" "10" "73498261" "73498261" "subst" "4.46708E-5" "00000" "CDH23_000414" "g.73498261A>G" "" "{PMID:Katagiri 2014:25268133}" "" "A4216G" "" "Germline" "" "rs192459984" "0" "" "" "g.71738504A>G" "" "VUS" "" "0000788382" "0" "50" "10" "73550107" "73550107" "subst" "4.08193E-5" "00000" "CDH23_000889" "g.73550107G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G5986A" "" "Germline" "" "" "0" "" "" "g.71790350G>A" "" "VUS" "" "0000788387" "0" "50" "10" "73405729" "73405729" "subst" "0.000493454" "00000" "CDH23_000412" "g.73405729G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G1282A" "" "Germline" "" "rs188376296" "0" "" "" "g.71645972G>A" "" "VUS" "" "0000788407" "0" "50" "10" "73545397" "73545397" "subst" "0.00041412" "00000" "CDH23_000342" "g.73545397G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G5722A" "" "Germline" "" "" "0" "" "" "g.71785640G>A" "" "VUS" "" "0000788416" "0" "50" "10" "73498261" "73498261" "subst" "4.46708E-5" "00000" "CDH23_000414" "g.73498261A>G" "" "{PMID:Katagiri 2014:25268133}" "" "A4216G" "" "Germline" "" "rs192459984" "0" "" "" "g.71738504A>G" "" "VUS" "" "0000788434" "0" "50" "10" "73569606" "73569606" "subst" "0" "00000" "CDH23_000890" "g.73569606G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G8752A" "" "Germline" "" "" "0" "" "" "g.71809849G>A" "" "VUS" "" "0000788439" "0" "50" "10" "73545397" "73545397" "subst" "0.00041412" "00000" "CDH23_000342" "g.73545397G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G5722A" "" "Germline" "" "" "0" "" "" "g.71785640G>A" "" "VUS" "" "0000788498" "0" "50" "10" "73572631" "73572631" "subst" "0" "00000" "CDH23_000891" "g.73572631G>T" "" "{PMID:Katagiri 2014:25268133}" "" "G9617T" "" "Germline" "" "" "0" "" "" "g.71812874G>T" "" "VUS" "" "0000788505" "0" "50" "10" "73498373" "73498373" "subst" "0" "00000" "CDH23_000888" "g.73498373C>G" "" "{PMID:Katagiri 2014:25268133}" "" "C4328G" "" "Germline" "" "" "0" "" "" "g.71738616C>G" "" "VUS" "" "0000791281" "0" "50" "10" "73466670" "73466670" "subst" "0" "03779" "CDH23_000892" "g.73466670C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000794862" "11" "50" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "erroneously reported as NM_022124, c.8326G>A, p.Gly2776Ser; in this transcript amino acid 2776 is Asn, and nucleotide 8326 is an A" "" "Germline" "?" "" "0" "" "" "g.?" "" "VUS" "" "0000796697" "0" "70" "10" "73553007" "73553007" "subst" "0" "00000" "CDH23_000243" "g.73553007G>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.6322G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000797558" "3" "70" "10" "73453990" "73453990" "subst" "0.00218662" "00000" "CDH23_000111" "g.73453990C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CDH23 c.2263C>T, p.(His755Tyr), c.2263C>T, p.(His755Tyr)" "homozygous" "Germline" "?" "" "0" "" "" "g.71694233C>T" "" "likely pathogenic" "ACMG" "0000797663" "0" "50" "10" "73269961" "73269961" "subst" "1.22481E-5" "00000" "CDH23_000893" "g.73269961C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "EYS c.2023+5G>T, p.(?), c.2137+1G>A, p.(?), CDH23 c.268C>T, p.(Arg90Trp), c.2263C>T, p.(His755Tyr), c.3221A>T, p.(Asp1074Val)" "" "Germline" "?" "" "0" "" "" "g.71510204C>T" "" "VUS" "ACMG" "0000797664" "0" "70" "10" "73453990" "73453990" "subst" "0.00218662" "00000" "CDH23_000111" "g.73453990C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "EYS c.2023+5G>T, p.(?), c.2137+1G>A, p.(?), CDH23 c.268C>T, p.(Arg90Trp), c.2263C>T, p.(His755Tyr), c.3221A>T, p.(Asp1074Val)" "" "Germline" "?" "" "0" "" "" "g.71694233C>T" "" "likely pathogenic" "ACMG" "0000797665" "0" "50" "10" "73472422" "73472422" "subst" "0" "00000" "CDH23_000895" "g.73472422A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "EYS c.2023+5G>T, p.(?), c.2137+1G>A, p.(?), CDH23 c.268C>T, p.(Arg90Trp), c.2263C>T, p.(His755Tyr), c.3221A>T, p.(Asp1074Val)" "" "Germline" "?" "" "0" "" "" "g.71712665A>T" "" "VUS" "ACMG" "0000797959" "0" "90" "10" "73544855" "73544860" "del" "0" "00000" "CDH23_000897" "g.73544855_73544860del" "" "{PMID:Jespersgaar 2019:30718709}" "" "CDH23 c.5710_5712+3del (pThr1905del)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.71785098_71785103del" "" "pathogenic" "ACMG" "0000797960" "0" "70" "10" "73500594" "73500594" "subst" "2.43867E-5" "00000" "CDH23_000149" "g.73500594C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CDH23 c.4504C>T, p.(Arg1502*)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.71740837C>T" "" "likely pathogenic" "ACMG" "0000797961" "0" "50" "10" "73559265" "73559265" "subst" "0" "00000" "CDH23_000898" "g.73559265A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CDH23 c.3331G>T, p.(Val1111phe), c.7241A>T, p.(Asp2414Val)" "" "Germline" "?" "" "0" "" "" "g.71799508A>T" "" "VUS" "ACMG" "0000797962" "0" "50" "10" "73472532" "73472532" "subst" "4.11177E-6" "00000" "CDH23_000896" "g.73472532G>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CDH23 c.3331G>T, p.(Val1111phe), c.7241A>T, p.(Asp2414Val)" "" "Germline" "?" "" "0" "" "" "g.71712775G>T" "" "VUS" "ACMG" "0000797963" "0" "70" "10" "73270973" "73270973" "subst" "0.00154737" "00000" "CDH23_000376" "g.73270973G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CDH23 c.429+4G>A, p.(?), c.2767G>A, p.(Gly923Ser)" "" "Germline" "?" "" "0" "" "" "g.71511216G>A" "" "likely pathogenic" "ACMG" "0000797964" "0" "50" "10" "73464701" "73464701" "subst" "0.000220881" "00000" "CDH23_000894" "g.73464701G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CDH23 c.429+4G>A, p.(?), c.2767G>A, p.(Gly923Ser)" "" "Germline" "?" "" "0" "" "" "g.71704944G>A" "" "VUS" "ACMG" "0000804513" "0" "50" "10" "73206086" "73206086" "subst" "2.43675E-5" "01943" "CDH23_000899" "g.73206086C>T" "" "" "" "CDH23(NM_022124.5):c.79C>T (p.R27W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804514" "0" "30" "10" "73269936" "73269936" "subst" "0" "01943" "CDH23_000900" "g.73269936G>A" "" "" "" "CDH23(NM_022124.5):c.243G>A (p.E81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804515" "0" "10" "10" "73326579" "73326579" "subst" "0.00275913" "02330" "CDH23_000472" "g.73326579C>T" "" "" "" "CDH23(NM_022124.5):c.510C>T (p.S170=), CDH23(NM_022124.6):c.510C>T (p.S170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804516" "0" "10" "10" "73375322" "73375322" "subst" "0.00116972" "02330" "CDH23_000901" "g.73375322G>A" "" "" "" "CDH23(NM_022124.6):c.894G>A (p.L298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804517" "0" "50" "10" "73377106" "73377106" "subst" "0.000333073" "01943" "CDH23_000689" "g.73377106G>A" "" "" "" "CDH23(NM_022124.5):c.1090G>A (p.G364S), CDH23(NM_022124.6):c.1090G>A (p.G364S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804518" "0" "50" "10" "73405729" "73405729" "subst" "0.000493454" "01943" "CDH23_000412" "g.73405729G>A" "" "" "" "CDH23(NM_001171930.1):c.1282G>A (p.(Asp428Asn)), CDH23(NM_022124.5):c.1282G>A (p.D428N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804519" "0" "30" "10" "73406269" "73406269" "subst" "0" "01943" "CDH23_000902" "g.73406269C>T" "" "" "" "CDH23(NM_022124.5):c.1344C>T (p.I448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804520" "0" "50" "10" "73406342" "73406342" "subst" "1.62446E-5" "01943" "CDH23_000903" "g.73406342G>A" "" "" "" "CDH23(NM_022124.5):c.1417G>A (p.V473I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804521" "0" "50" "10" "73437201" "73437201" "subst" "2.24404E-5" "02327" "CDH23_000679" "g.73437201G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804522" "0" "50" "10" "73437318" "73437318" "subst" "0.000190976" "01943" "CDH23_000904" "g.73437318C>T" "" "" "" "CDH23(NM_022124.5):c.1620C>T (p.G540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804523" "0" "50" "10" "73439205" "73439205" "subst" "0.00104941" "01943" "CDH23_000905" "g.73439205C>T" "" "" "" "CDH23(NM_022124.5):c.1814C>T (p.A605V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804524" "0" "30" "10" "73454024" "73454024" "subst" "9.16537E-5" "01943" "CDH23_000906" "g.73454024C>T" "" "" "" "CDH23(NM_022124.5):c.2289+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804525" "0" "10" "10" "73461949" "73461949" "subst" "0.00649732" "02330" "CDH23_000379" "g.73461949C>G" "" "" "" "CDH23(NM_022124.6):c.2568C>G (p.I856M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804526" "0" "30" "10" "73461953" "73461953" "subst" "0.000387347" "01943" "CDH23_000605" "g.73461953G>A" "" "" "" "CDH23(NM_022124.5):c.2572G>A (p.V858I), CDH23(NM_022124.6):c.2572G>A (p.V858I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804527" "0" "50" "10" "73462405" "73462405" "subst" "0" "02325" "CDH23_000907" "g.73462405T>C" "" "" "" "CDH23(NM_022124.6):c.2687T>C (p.V896A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804528" "0" "50" "10" "73464825" "73464825" "subst" "0.000222391" "01943" "CDH23_000424" "g.73464825G>A" "" "" "" "CDH23(NM_022124.5):c.2891G>A (p.R964Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804529" "0" "50" "10" "73464858" "73464858" "subst" "8.29993E-6" "01943" "CDH23_000908" "g.73464858A>G" "" "" "" "CDH23(NM_022124.5):c.2924A>G (p.K975R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804530" "0" "50" "10" "73464860" "73464860" "subst" "0.000220266" "02325" "CDH23_000657" "g.73464860A>G" "" "" "" "CDH23(NM_022124.5):c.2926A>G (p.S976G), CDH23(NM_022124.6):c.2926A>G (p.S976G, p.(Ser976Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804531" "0" "50" "10" "73472432" "73472432" "subst" "0.000126118" "01943" "CDH23_000909" "g.73472432T>G" "" "" "" "CDH23(NM_022124.5):c.3231T>G (p.P1077=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804532" "0" "10" "10" "73472450" "73472450" "subst" "0.00152609" "02330" "CDH23_000661" "g.73472450G>A" "" "" "" "CDH23(NM_022124.5):c.3249G>A (p.T1083=), CDH23(NM_022124.6):c.3249G>A (p.T1083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804533" "0" "30" "10" "73490324" "73490324" "subst" "8.94847E-5" "01943" "CDH23_000910" "g.73490324G>A" "" "" "" "CDH23(NM_022124.5):c.3678G>A (p.T1226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804534" "0" "50" "10" "73501521" "73501521" "subst" "2.87585E-5" "01943" "CDH23_000314" "g.73501521T>C" "" "" "" "CDH23(NM_022124.5):c.4688T>C (p.L1563P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804535" "0" "30" "10" "73501675" "73501675" "subst" "0.000476527" "02330" "CDH23_000911" "g.73501675G>C" "" "" "" "CDH23(NM_022124.6):c.4842G>C (p.L1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804536" "0" "30" "10" "73537454" "73537454" "subst" "8.27274E-5" "01943" "CDH23_000912" "g.73537454C>T" "" "" "" "CDH23(NM_022124.5):c.4863C>T (p.Y1621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804537" "0" "10" "10" "73538008" "73538008" "subst" "0.000316751" "02330" "CDH23_000733" "g.73538008C>T" "" "" "" "CDH23(NM_022124.5):c.5130C>T (p.I1710=), CDH23(NM_022124.6):c.5130C>T (p.I1710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804538" "0" "50" "10" "73539072" "73539072" "subst" "0.000280246" "01943" "CDH23_000913" "g.73539072C>T" "" "" "" "CDH23(NM_022124.5):c.5236C>T (p.R1746W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804539" "0" "10" "10" "73548747" "73548747" "subst" "0.000446788" "02330" "CDH23_000820" "g.73548747C>G" "" "" "" "CDH23(NM_022124.5):c.5871C>G (p.P1957=), CDH23(NM_022124.6):c.5871C>G (p.P1957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804540" "0" "30" "10" "73548818" "73548818" "subst" "2.4737E-5" "02330" "CDH23_000914" "g.73548818C>T" "" "" "" "CDH23(NM_022124.6):c.5923+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804541" "0" "30" "10" "73550188" "73550188" "subst" "0.000122732" "02330" "CDH23_000915" "g.73550188C>G" "" "" "" "CDH23(NM_022124.6):c.6049+18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804542" "0" "50" "10" "73560424" "73560424" "subst" "0.000223397" "02327" "CDH23_000746" "g.73560424G>A" "" "" "" "CDH23(NM_022124.5):c.7394G>A (p.R2465Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804543" "0" "50" "10" "73565632" "73565632" "subst" "4.07378E-6" "01943" "CDH23_000916" "g.73565632G>A" "" "" "" "CDH23(NM_022124.5):c.7942G>A (p.V2648M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804544" "0" "50" "10" "73569732" "73569732" "subst" "4.0993E-5" "01943" "CDH23_000885" "g.73569732G>A" "" "" "" "CDH23(NM_022124.5):c.8878G>A (p.V2960I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804545" "0" "50" "10" "73572269" "73572269" "subst" "0.000109754" "01943" "CDH23_000917" "g.73572269G>A" "" "" "" "CDH23(NM_022124.5):c.9413G>A (p.R3138Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804546" "0" "50" "10" "73574898" "73574898" "subst" "0.000200946" "01943" "CDH23_000918" "g.73574898C>T" "" "" "" "CDH23(NM_022124.5):c.9928C>T (p.R3310C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811017" "0" "70" "10" "73563112" "73563112" "subst" "0" "03779" "CDH23_000847" "g.73563112G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs780640943" "0" "" "" "" "" "likely pathogenic" "" "0000811025" "0" "70" "10" "73571122" "73571122" "subst" "2.03128E-5" "03779" "CDH23_000919" "g.73571122G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs565784910" "0" "" "" "" "" "likely pathogenic" "" "0000811895" "0" "70" "6" "73206144" "73206144" "subst" "0" "00000" "CDH23_000001" "g.73206144C>A" "" "{PMID:Gao 2019:31054281}" "" "c.137C>A, p.Thr46Lys" "heterozygous" "Germline" "?" "" "0" "" "" "g.71446387C>A" "" "likely pathogenic" "" "0000811896" "0" "70" "6" "73453963" "73453963" "subst" "0" "00000" "CDH23_000002" "g.73453963G>A" "" "{PMID:Gao 2019:31054281}" "" "c.2236G>A, p.Val746Ile" "heterozygous" "Germline" "?" "" "0" "" "" "g.71694206G>A" "" "likely pathogenic" "" "0000814260" "1" "70" "10" "73501595" "73501595" "subst" "0.000197032" "00000" "CDH23_000728" "g.73501595C>T" "" "{PMID:Chen 2020:31872526}" "" "CDH23:NM_022124:exon36:c.4762C>T:p.R1588W" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.71741838C>T" "" "likely pathogenic" "" "0000814291" "2" "70" "10" "73552990" "73552990" "subst" "4.06898E-6" "00000" "CDH23_000920" "g.73552990G>A" "" "{PMID:Chen 2020:31872526}" "" "CDH23:NM_022124:exon46:c.6305G>A:p.G2102E" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.71793233G>A" "" "likely pathogenic" "" "0000816109" "0" "90" "10" "73498354" "73498354" "subst" "4.06379E-6" "00000" "CDH23_000047" "g.73498354C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "CDH23 c.4309C>T, p.Arg1442Ter" "different transcript, error in annotation NM_022124.5(CDH23):c.4309C>T, p.(Arg1437*), heterozygous" "Unknown" "?" "" "0" "" "" "g.71738597C>T" "" "pathogenic" "" "0000816273" "0" "50" "10" "73447478" "73447478" "subst" "0" "00000" "CDH23_000924" "g.73447478T>G" "" "{PMID:Zampaglione 2020:32037395}" "" "CDH23 c.2074+2T>G" "error in annotation, actual Chr10(GRCh37):g.73447478T>G change is c.2059+2T>G, unsolved" "Unknown" "?" "" "0" "" "" "g.71687721T>G" "" "VUS" "" "0000816430" "0" "90" "10" "73539073" "73539073" "subst" "6.09305E-5" "00000" "CDH23_000002" "g.73539073G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.5237G>A, p.Arg1751Gln" "different transcript, error in annotation, NM_022124.5(CDH23):c.5237G>A, p.(Arg1746Gln), heterozygous" "Unknown" "?" "" "0" "" "" "g.71779316G>A" "" "pathogenic" "" "0000816566" "21" "70" "10" "407255" "407255" "subst" "0" "00000" "CDH23_000921" "g.407255G>A" "" "{PMID:Liu 2020:32090030}" "" "c.7145G>A, p.R2382Q" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.71799201G>A" "" "likely pathogenic" "" "0000816569" "11" "70" "10" "420928" "420928" "subst" "0" "00000" "CDH23_000922" "g.420928G>A" "" "{PMID:Liu 2020:32090030}" "" "c.9617G>A, p.R3206H" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.71812874G>A" "" "likely pathogenic" "" "0000816574" "21" "70" "10" "407255" "407255" "subst" "0" "03840" "CDH23_000921" "g.407255G>A" "" "{PMID:Liu 2020:32090030}" "" "c.7145G>A, p.R2382Q" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.71799201G>A" "" "VUS" "" "0000816575" "11" "70" "10" "420928" "420928" "subst" "0" "03840" "CDH23_000922" "g.420928G>A" "" "{PMID:Liu 2020:32090030}" "" "c.9617G>A, p.R3206H" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.71812874G>A" "" "VUS" "" "0000816625" "0" "50" "10" "73466670" "73466670" "subst" "0" "03779" "CDH23_000892" "g.73466670C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000817084" "0" "50" "10" "73544792" "73544792" "subst" "0.000125906" "02416" "CDH23_000925" "g.73544792A>C" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "rs747488431" "0" "" "" "" "" "VUS" "ACMG" "0000817187" "0" "50" "10" "73563128" "73563128" "subst" "0.000670587" "02416" "CDH23_000132" "g.73563128G>A" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "rs202052174" "0" "" "" "" "" "VUS" "ACMG" "0000817190" "21" "50" "10" "73326640" "73326640" "subst" "4.8771E-5" "02416" "CDH23_000923" "g.73326640C>T" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "rs773118278" "0" "" "" "" "" "VUS" "ACMG" "0000817696" "1" "70" "10" "73553078" "73553078" "del" "0" "00000" "CDH23_000115" "g.73553078del" "" "{PMID:Zanolli 2020:32141364}" "" "CDH23 c.6393delC; c.7979_7986delACTGGGAG" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.71793321del" "" "likely pathogenic" "" "0000817697" "2" "70" "10" "73565669" "73565676" "del" "0" "00000" "CDH23_000926" "g.73565669_73565676del" "" "{PMID:Zanolli 2020:32141364}" "" "CDH23 c.6393delC; c.7979_7986delACTGGGAG" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.71805912_71805919del" "" "likely pathogenic" "" "0000819348" "1" "70" "10" "73493995" "73493995" "subst" "8.51876E-6" "00000" "CDH23_000363" "g.73493995A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.4105-2A>T/p.?, variant 2: c.7362+5G>A/p.?" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.71734238A>T" "" "likely pathogenic" "" "0000819358" "1" "70" "10" "73539205" "73539205" "subst" "0" "00000" "CDH23_000437" "g.73539205G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.5368+1G>A/p.?, variant 2 :Deletion exon 4-6" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.71779448G>A" "" "likely pathogenic" "" "0000819359" "1" "70" "10" "73539205" "73539205" "subst" "0" "00000" "CDH23_000437" "g.73539205G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.5368+1G>A/p.?, variant 2 :Deletion exon 4-6" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.71779448G>A" "" "likely pathogenic" "" "0000819370" "1" "70" "10" "73498354" "73498354" "subst" "4.06379E-6" "00000" "CDH23_000047" "g.73498354C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.4309C>T/p.R1437*, variant 2: c.4309C>T/p.R1437*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.71738597C>T" "" "likely pathogenic" "" "0000819371" "1" "70" "10" "73498354" "73498354" "subst" "4.06379E-6" "00000" "CDH23_000047" "g.73498354C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.4309C>T/p.R1437*, variant 2: c.4309C>T/p.R1437*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.71738597C>T" "" "likely pathogenic" "" "0000819489" "1" "70" "10" "73553134" "73553134" "del" "0" "00000" "CDH23_000927" "g.73553134del" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.6449del/p.G2150Afs*14, variant 2: c.9284dup/p.R3096Efs*24" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.71793377del" "" "likely pathogenic" "" "0000819704" "1" "70" "10" "73537449" "73537449" "subst" "0.0173057" "00000" "CDH23_000365" "g.73537449G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.4858G>A/p.V1620M, variant 2: c.4858G>A/p.V1620M" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.71777692G>A" "" "likely pathogenic" "" "0000819868" "1" "70" "10" "73565743" "73565743" "subst" "0" "00000" "CDH23_000928" "g.73565743G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.8053G>T/p.E2685*, variant 2: c.8053G>T/p.E2685*" "error in annotation, protein change should be p.(Ala2685Ser) and not p.(Glu2685*), solved, homozygous" "Unknown" "?" "" "0" "" "" "g.71805986G>T" "" "likely pathogenic" "" "0000820109" "1" "70" "10" "73570327" "73570327" "subst" "0" "00000" "CDH23_000929" "g.73570327G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.9077+1G>A/p.?, variant 2: c.9077+1G>A/p.?" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.71810570G>A" "" "likely pathogenic" "" "0000820620" "1" "70" "10" "73559391" "73559391" "subst" "8.12301E-6" "00000" "CDH23_000004" "g.73559391G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.4105-2A>T/p.?, variant 2: c.7362+5G>A/p.?" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.71799634G>A" "" "likely pathogenic" "" "0000820624" "1" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.5368+1G>A/p.?, variant 2 :Deletion exon 4-6" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000820625" "1" "70" "10" "0" "0" "" "0" "00000" "CYP2C9_001038" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.5368+1G>A/p.?, variant 2 :Deletion exon 4-6" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000820661" "1" "70" "10" "73571475" "73571475" "dup" "0" "00000" "CDH23_000930" "g.73571475dup" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH23, variant 1: c.6449del/p.G2150Afs*14, variant 2: c.9284dup/p.R3096Efs*24" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.71811718dup" "" "likely pathogenic" "" "0000821188" "3" "70" "10" "73500642" "73500642" "del" "0" "00000" "CDH23_000827" "g.73500642del" "" "{PMID:Turro 2020:32581362}" "" "CDH23 c.4567delC, p.Leu1523TrpfsTer20" "homozygous, error in annotation: chromosomal position does not match coding DNA position. Should be c.4552delC, p.(Leu1518Trpfs*20) and not c.4567delC, p.Leu1523TrpfsTer20" "Germline/De novo (untested)" "?" "" "0" "" "" "g.71740885del" "" "likely pathogenic" "" "0000823167" "10" "70" "10" "73550994" "73550994" "subst" "8.13988E-6" "00000" "CDH23_000931" "g.73550994C>T" "" "{PMID:Zheng 2020:32835555}" "" "CDH23 c.6155C>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.71791237C>T" "" "likely pathogenic" "" "0000827447" "0" "70" "10" "73326553" "73326553" "subst" "0" "00000" "CDH23_000409" "g.73326553G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.484G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000827448" "0" "50" "10" "73571264" "73571264" "subst" "1.21913E-5" "00000" "CDH23_000410" "g.73571264G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.9199-4G>A" "" "Germline" "" "rs369900526" "0" "" "" "" "" "VUS" "" "0000827449" "0" "90" "10" "73500594" "73500594" "subst" "2.43867E-5" "00000" "CDH23_000149" "g.73500594C>T" "" "{PMID:Colombo-2020:33576794}" "" "c.4504C>T" "" "Germline" "yes" "rs769742202" "0" "" "" "" "" "pathogenic" "" "0000827450" "0" "90" "10" "73539116" "73539116" "del" "0" "00000" "CDH23_000932" "g.73539116del" "" "{PMID:Colombo-2020:33576794}" "" "c.5280del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827451" "0" "90" "10" "73499529" "73499529" "subst" "0" "00000" "CDH23_000003" "g.73499529G>C" "" "{PMID:Colombo-2020:33576794}" "" "c.4488G>C" "" "Germline" "" "rs121908347" "0" "" "" "" "" "pathogenic" "" "0000827452" "0" "70" "10" "73544729" "73544729" "subst" "1.21829E-5" "00000" "CDH23_000633" "g.73544729G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.5584G>A" "" "Germline" "" "rs773004408" "0" "" "" "" "" "likely pathogenic" "" "0000827453" "0" "90" "10" "73558112" "73558112" "del" "0" "00000" "CDH23_000933" "g.73558112del" "" "{PMID:Colombo-2020:33576794}" "" "c.6831del" "" "Germline" "" "rs1200012430" "0" "" "" "" "" "pathogenic" "" "0000827454" "0" "70" "10" "73563128" "73563128" "subst" "0.000670587" "00000" "CDH23_000132" "g.73563128G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.7823G>A" "" "Germline" "" "rs202052174" "0" "" "" "" "" "likely pathogenic" "" "0000827455" "0" "90" "10" "73550170" "73550170" "subst" "2.90587E-5" "00000" "CDH23_000046" "g.73550170G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.6049G>A" "" "Germline" "" "rs183431253" "0" "" "" "" "" "pathogenic" "" "0000827456" "0" "70" "10" "73466716" "73466716" "subst" "8.58104E-6" "00000" "CDH23_000327" "g.73466716G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.3016G>A" "" "Germline" "" "rs745571683" "0" "" "" "" "" "likely pathogenic" "" "0000828526" "3" "70" "10" "73405590" "73405623" "del" "0" "00000" "CDH23_000934" "g.73405590_73405623del" "" "{PMID:Perea-Romero 2021:34448047}" "" "CDH23, c.1143_1176del, p.Leu382Thrfs*54, homozygous" "" "Germline" "yes" "" "0" "" "" "g.71645833_71645866del" "" "likely pathogenic" "ACMG" "0000829051" "0" "70" "10" "73539073" "73539073" "subst" "6.09305E-5" "00000" "CDH23_000002" "g.73539073G>A" "" "{PMID:Georgiou 2021:32795431}" "" "CDH23 c.5237G>A, p.Arg1746Gln" "" "Unknown" "?" "" "0" "" "" "g.71779316G>A" "" "likely pathogenic" "" "0000829073" "0" "70" "10" "73571349" "73571349" "subst" "0" "00000" "CDH23_000935" "g.73571349T>G" "" "{PMID:Georgiou 2021:32795431}" "" "CDH23 c.9278+2T>G, p.?" "" "Unknown" "?" "" "0" "" "" "g.71811592T>G" "" "likely pathogenic" "" "0000829452" "0" "70" "10" "73330645" "73330645" "subst" "0" "00000" "CDH23_000936" "g.73330645T>C" "" "{PMID:SkorczykWerner-2020:33308271}" "" "c.721+2T>C (p.?)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829457" "0" "70" "10" "73330646" "73330646" "subst" "0" "00000" "CDH23_000937" "g.73330646A>T" "" "{PMID:SkorczykWerner-2020:33308271}" "" "c.726-2A>T (p.?)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829469" "0" "70" "10" "73539073" "73539073" "subst" "6.09305E-5" "00000" "CDH23_000002" "g.73539073G>A" "" "{PMID:Wafa-2021:33089500}" "" "c.5237G>A,p.R1746Q" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829470" "0" "70" "10" "73466716" "73466716" "subst" "8.58104E-6" "00000" "CDH23_000327" "g.73466716G>A" "" "{PMID:Wafa-2021:33089500}" "" "c.3016G>A,p.E1006K" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829498" "0" "70" "10" "73563177" "73563177" "subst" "0" "00000" "CDH23_000104" "g.73563177G>A" "" "{PMID:Wafa-2021:33089500}" "" "c.7872G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829499" "0" "70" "10" "73472571" "73472571" "subst" "0" "00000" "CDH23_000939" "g.73472571G>A" "" "{PMID:Wafa-2021:33089500}" "" "c.3369+1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829523" "0" "70" "10" "73466716" "73466716" "subst" "8.58104E-6" "00000" "CDH23_000327" "g.73466716G>A" "" "{PMID:Wafa-2021:33089500}" "" "p.E1006K" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829524" "0" "70" "10" "73539073" "73539073" "subst" "6.09305E-5" "00000" "CDH23_000002" "g.73539073G>A" "" "{PMID:Wafa-2021:33089500}" "" "p.R1746Q" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829525" "3" "70" "10" "0" "0" "del" "0" "00000" "CDH23_000243" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "p.E2973*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829526" "0" "70" "10" "0" "0" "del" "0" "00000" "CDH23_000243" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "p.Q1965*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829527" "0" "70" "10" "73450300" "73450301" "del" "0" "00000" "CDH23_000938" "g.73450300_73450301del" "" "{PMID:Wafa-2021:33089500}" "" "c.2135_2136delCC, p.S712Ffs*23" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829528" "0" "70" "10" "73558214" "73558214" "del" "0" "00000" "CDH23_000006" "g.73558214del" "" "{PMID:Wafa-2021:33089500}" "" "c.6933delT, p.T2313Pfs*60" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000838854" "0" "50" "10" "73558958" "73558958" "subst" "6.49831E-5" "00000" "CDH23_000921" "g.73558958G>A" "" "{PMID:Zhu 2021:32675063}" "" "CDH23 c.7145G>A, (p.R2382Q)" "single heterozygous variant in a recessive disesase, no second allele" "Germline" "yes" "" "0" "" "" "g.71799201G>A" "" "VUS" "ACMG" "0000839413" "0" "50" "10" "73485182" "73485182" "subst" "0" "03779" "CDH23_000940" "g.73485182G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000852547" "0" "30" "10" "73375310" "73375310" "subst" "1.21838E-5" "01943" "CDH23_000943" "g.73375310C>G" "" "" "" "CDH23(NM_022124.5):c.882C>G (p.T294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852548" "0" "30" "10" "73405674" "73405674" "subst" "0.000459959" "02330" "CDH23_000693" "g.73405674G>A" "" "" "" "CDH23(NM_022124.5):c.1227G>A (p.A409=), CDH23(NM_022124.6):c.1227G>A (p.A409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852549" "0" "50" "10" "73437319" "73437319" "subst" "0.000128622" "01943" "CDH23_000945" "g.73437319G>A" "" "" "" "CDH23(NM_022124.5):c.1621G>A (p.E541K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852550" "0" "50" "10" "73447440" "73447440" "subst" "2.8446E-5" "01943" "CDH23_000946" "g.73447440G>A" "" "" "" "CDH23(NM_022124.5):c.2023G>A (p.A675T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852551" "0" "50" "10" "73468923" "73468923" "subst" "4.0663E-6" "02327" "CDH23_000178" "g.73468923G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852552" "0" "50" "10" "73472431" "73472431" "subst" "0.000138336" "02327" "CDH23_000948" "g.73472431C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852553" "0" "50" "10" "73483829" "73483829" "subst" "0.000209646" "01943" "CDH23_000949" "g.73483829G>A" "" "" "" "CDH23(NM_022124.5):c.3397G>A (p.E1133K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852554" "0" "30" "10" "73490213" "73490213" "subst" "0.000542729" "02330" "CDH23_000950" "g.73490213C>T" "" "" "" "CDH23(NM_022124.6):c.3580-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852555" "0" "50" "10" "73498309" "73498309" "subst" "0" "01943" "CDH23_000951" "g.73498309T>A" "" "" "" "CDH23(NM_022124.5):c.4264T>A (p.S1422T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852556" "0" "30" "10" "73500626" "73500626" "subst" "7.71668E-5" "01943" "CDH23_000952" "g.73500626C>A" "" "" "" "CDH23(NM_022124.5):c.4536C>A (p.I1512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852557" "0" "50" "10" "73544756" "73544756" "subst" "1.62438E-5" "01943" "CDH23_000954" "g.73544756G>A" "" "" "" "CDH23(NM_022124.5):c.5611G>A (p.A1871T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852558" "0" "30" "10" "73545397" "73545397" "subst" "0.00041412" "02330" "CDH23_000342" "g.73545397G>A" "" "" "" "CDH23(NM_022124.6):c.5722G>A (p.V1908I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852559" "0" "30" "10" "73551009" "73551009" "subst" "1.62608E-5" "01943" "CDH23_000956" "g.73551009T>C" "" "" "" "CDH23(NM_022124.5):c.6170T>C (p.I2057T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852560" "0" "50" "10" "73553178" "73553178" "subst" "2.84583E-5" "02327" "CDH23_000957" "g.73553178G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852561" "0" "50" "10" "73560493" "73560493" "subst" "0.000166566" "01943" "CDH23_000958" "g.73560493G>A" "" "" "" "CDH23(NM_022124.5):c.7463G>A (p.R2488H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852562" "0" "50" "10" "73567275" "73567275" "subst" "0.00038389" "02327" "CDH23_000122" "g.73567275G>A" "" "" "" "CDH23(NM_022124.5):c.8311G>A (p.G2771S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852563" "0" "50" "10" "73567308" "73567308" "subst" "0.000114011" "01943" "CDH23_000959" "g.73567308G>A" "" "" "" "CDH23(NM_022124.5):c.8344G>A (p.D2782N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852564" "0" "50" "10" "73574758" "73574758" "subst" "0" "01943" "CDH23_000963" "g.73574758A>G" "" "" "" "CDH23(NM_022124.5):c.9788A>G (p.Q3263R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852565" "0" "30" "10" "73575014" "73575014" "subst" "0.00032654" "01943" "CDH23_000964" "g.73575014C>G" "" "" "" "CDH23(NM_022124.5):c.10044C>G (p.P3348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861969" "0" "30" "10" "73326641" "73326641" "subst" "2.03239E-5" "01943" "CDH23_000941" "g.73326641G>A" "" "" "" "CDH23(NM_022124.5):c.572G>A (p.R191Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861970" "0" "50" "10" "73330578" "73330578" "subst" "0" "01943" "CDH23_000942" "g.73330578T>A" "" "" "" "CDH23(NM_022124.5):c.656T>A (p.L219Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861971" "0" "30" "10" "73437219" "73437219" "subst" "1.69314E-5" "02330" "CDH23_000944" "g.73437219G>A" "" "" "" "CDH23(NM_022124.6):c.1521G>A (p.S507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861972" "0" "70" "10" "73466668" "73466668" "subst" "0" "01943" "CDH23_000142" "g.73466668G>A" "" "" "" "CDH23(NM_022124.5):c.2968G>A (p.D990N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861973" "0" "30" "10" "73468934" "73468934" "subst" "0.000239943" "02330" "CDH23_000947" "g.73468934C>A" "" "" "" "CDH23(NM_022124.6):c.3186C>A (p.T1062=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861974" "0" "30" "10" "73544668" "73544668" "subst" "0.000129965" "01943" "CDH23_000953" "g.73544668G>A" "" "" "" "CDH23(NM_022124.5):c.5523G>A (p.V1841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861975" "0" "30" "10" "73550052" "73550052" "subst" "0.000565606" "01943" "CDH23_000955" "g.73550052T>C" "" "" "" "CDH23(NM_022124.5):c.5931T>C (p.P1977=), CDH23(NM_022124.6):c.5931T>C (p.P1977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861976" "0" "50" "10" "73567686" "73567686" "subst" "6.65572E-5" "01943" "CDH23_000960" "g.73567686T>C" "" "" "" "CDH23(NM_022124.5):c.8644T>C (p.F2882L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861977" "0" "30" "10" "73569619" "73569619" "subst" "1.22215E-5" "01943" "CDH23_000961" "g.73569619C>T" "" "" "" "CDH23(NM_022124.5):c.8765C>T (p.A2922V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861978" "0" "50" "10" "73570246" "73570246" "subst" "0" "01943" "CDH23_000962" "g.73570246G>C" "" "" "" "CDH23(NM_022124.5):c.8997G>C (p.K2999N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861979" "0" "30" "10" "73570263" "73570263" "subst" "0.00131172" "01943" "CDH23_000567" "g.73570263C>G" "" "" "" "CDH23(NM_001171933.1):c.2294C>G (p.(Ala765Gly)), CDH23(NM_022124.5):c.9014C>G (p.A3005G), CDH23(NM_022124.6):c.9014C>G (p.A3005G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861980" "0" "30" "10" "73571307" "73571307" "subst" "0.00138975" "01943" "CDH23_000231" "g.73571307G>A" "" "" "" "CDH23(NM_001171933.1):c.2518G>A (p.(Ala840Thr)), CDH23(NM_022124.5):c.9238G>A (p.A3080T), CDH23(NM_022124.6):c.9238G>A (p.A3080T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000869489" "11" "90" "10" "73206137" "73206137" "subst" "0" "00000" "CDH23_000965" "g.73206137G>A" "" "{PMID:Okano 2019:30774966}" "" "NM_022124.5:c.130G>A/p.(Glu44Lys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869490" "21" "90" "10" "73375374" "73375374" "subst" "0" "00000" "CDH23_000966" "g.73375374G>T" "" "{PMID:Okano 2019:30774966}" "" "c.945+1G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869491" "21" "90" "10" "73550874" "73550874" "subst" "1.39504E-5" "00000" "CDH23_000677" "g.73550874G>A" "" "{PMID:Valero 2019:31546658}" "" "c.6050-15G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869492" "11" "90" "10" "73550880" "73550880" "subst" "4.96915E-5" "00000" "CDH23_000007" "g.73550880G>A" "" "{PMID:Valero 2019:31546658}" "" "c.6050-9G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869493" "3" "70" "10" "73571511" "73571511" "subst" "0" "00000" "CDH23_000967" "g.73571511G>T" "" "{PMID:Menghini 2019:31755791}" "" "c.9319 + 1G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000869494" "21" "90" "10" "73461953" "73461953" "subst" "0.000387347" "00000" "CDH23_000605" "g.73461953G>A" "" "{PMID:Zhang 2020:32425987}" "" "c.2572G>A(p.V858I)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869495" "11" "90" "10" "73464825" "73464825" "subst" "0.000222391" "00000" "CDH23_000424" "g.73464825G>A" "" "{PMID:Zhang 2020:32425987}" "" "c.2891G>A(p.R964Q)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000873286" "0" "55" "10" "73434896" "73434896" "subst" "0" "00110" "CDH23_000968" "g.73434896G>A" "" "" "" "" "PM2 PM3_S (observed in trans of a rare variant) PP3" "SUMMARY record" "" "" "0" "" "" "g.71675139G>A" "" "VUS" "ACMG" "0000873287" "0" "55" "10" "73565627" "73565627" "subst" "0" "00110" "CDH23_000969" "g.73565627G>A" "" "" "" "" "PM2 PP3 PP6 (homozygous, + same position in domain as G493R)" "SUMMARY record" "" "" "0" "" "" "g.71805870G>A" "" "VUS" "ACMG" "0000873288" "0" "55" "10" "73567675" "73567677" "del" "0" "00110" "CDH23_000970" "g.73567675_73567677del" "" "" "" "" "PM2 PM3_S (in trans of a rare variant) PP3" "SUMMARY record" "" "" "0" "" "" "g.71807918_71807920del" "" "VUS" "ACMG" "0000889218" "0" "50" "10" "73269961" "73269961" "subst" "1.22481E-5" "02327" "CDH23_000893" "g.73269961C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889219" "0" "50" "10" "73406280" "73406280" "subst" "4.06105E-6" "02327" "CDH23_000163" "g.73406280A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889220" "0" "50" "10" "73464701" "73464701" "subst" "0.000220881" "02327" "CDH23_000894" "g.73464701G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889221" "0" "10" "10" "73466670" "73466670" "subst" "0.00338077" "02327" "CDH23_000277" "g.73466670C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889222" "0" "50" "10" "73483817" "73483817" "subst" "0" "02330" "CDH23_000971" "g.73483817G>A" "" "" "" "CDH23(NM_022124.6):c.3385G>A (p.A1129T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889223" "0" "50" "10" "73491875" "73491875" "subst" "3.24894E-5" "02327" "CDH23_000972" "g.73491875G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889224" "0" "30" "10" "73492069" "73492069" "subst" "9.46245E-5" "02330" "CDH23_000721" "g.73492069G>A" "" "" "" "CDH23(NM_022124.5):c.4041G>A (p.T1347=), CDH23(NM_022124.6):c.4041G>A (p.T1347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889225" "0" "30" "10" "73537493" "73537493" "subst" "9.78019E-5" "02330" "CDH23_000973" "g.73537493C>T" "" "" "" "CDH23(NM_022124.6):c.4902C>T (p.F1634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889226" "0" "50" "10" "73537528" "73537528" "subst" "8.14545E-6" "02327" "CDH23_000974" "g.73537528G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889227" "0" "50" "10" "73563112" "73563112" "subst" "0" "02330" "CDH23_000847" "g.73563112G>A" "" "" "" "CDH23(NM_022124.6):c.7807G>A (p.D2603N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889228" "0" "30" "10" "73567365" "73567365" "subst" "0.000264223" "02330" "CDH23_000348" "g.73567365T>G" "" "" "" "CDH23(NM_022124.6):c.8401T>G (p.F2801V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889229" "0" "50" "10" "73570319" "73570319" "subst" "4.8746E-5" "02327" "CDH23_000975" "g.73570319G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908895" "21" "90" "10" "73406215" "73406215" "subst" "0" "00006" "CDH23_000694" "g.73406215G>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "cryptic splice acceptor, intron retention" "Germline" "" "" "0" "" "" "g.71646458G>A" "" "pathogenic (recessive)" "" "0000908939" "11" "90" "10" "73553240" "73553240" "subst" "0" "00006" "CDH23_000976" "g.73553240G>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71793483G>T" "" "pathogenic (recessive)" "" "0000913317" "0" "50" "10" "73569757" "73569757" "subst" "8.19632E-6" "02327" "CDH23_000118" "g.73569757T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913318" "0" "10" "10" "73578882" "73578882" "subst" "0.340115" "02329" "CDH23_000978" "g.73578882T>C" "" "" "" "PSAP(NM_001042465.3):c.1360-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913319" "0" "10" "10" "73579217" "73579217" "subst" "0.173896" "02329" "CDH23_000979" "g.73579217C>T" "" "" "" "PSAP(NM_001042465.3):c.1359+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913320" "0" "10" "10" "73579979" "73579979" "subst" "0.15335" "02329" "CDH23_000980" "g.73579979G>A" "" "" "" "PSAP(NM_001042465.3):c.1014+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925184" "0" "50" "10" "73269857" "73269857" "subst" "0" "02327" "CDH23_000981" "g.73269857T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925185" "0" "50" "10" "73330674" "73330674" "subst" "4.06359E-6" "02325" "CDH23_000982" "g.73330674C>T" "" "" "" "CDH23(NM_022124.6):c.752C>T (p.P251L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925186" "0" "70" "10" "73405599" "73405599" "subst" "0" "02327" "CDH23_000430" "g.73405599C>A" "" "" "" "CDH23(NM_022124.5):c.1152C>A (p.S384R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925187" "0" "50" "10" "73485200" "73485200" "subst" "4.47154E-5" "02327" "CDH23_000983" "g.73485200C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925188" "0" "50" "10" "73538009" "73538009" "subst" "0.000316764" "02325" "CDH23_000340" "g.73538009G>A" "" "" "" "CDH23(NM_022124.6):c.5131G>A (p.V1711I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925189" "0" "50" "10" "73569782" "73569782" "subst" "0" "02325" "CDH23_000984" "g.73569782C>G" "" "" "" "CDH23(NM_022124.6):c.8928C>G (p.I2976M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929698" "0" "10" "10" "73377094" "73377094" "subst" "0.00240428" "02326" "CDH23_000687" "g.73377094C>T" "" "" "" "CDH23(NM_022124.5):c.1078C>T (p.L360=), CDH23(NM_022124.6):c.1078C>T (p.L360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000943964" "3" "90" "10" "73464800" "73464800" "subst" "3.28383E-5" "00006" "CDH23_000352" "g.73464800G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71705043G>A" "" "pathogenic (recessive)" "" "0000943965" "1" "90" "10" "73466668" "73466668" "subst" "0" "00006" "CDH23_000142" "g.73466668G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71706911G>A" "" "pathogenic (recessive)" "" "0000943966" "3" "90" "10" "73485179" "73485179" "subst" "0" "00006" "CDH23_000066" "g.73485179C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71725422C>T" "" "pathogenic (recessive)" "" "0000943967" "3" "90" "10" "73491908" "73491908" "subst" "0" "00006" "CDH23_000134" "g.73491908C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71732151C>T" "" "pathogenic (recessive)" "" "0000943968" "3" "90" "10" "73537483" "73537483" "subst" "0.000775916" "00006" "CDH23_000514" "g.73537483C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71777726C>T" "" "pathogenic (recessive)" "" "0000943969" "3" "90" "10" "73538027" "73538027" "subst" "4.06118E-6" "00006" "CDH23_000985" "g.73538027T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71778270T>C" "" "pathogenic (recessive)" "" "0000943970" "3" "90" "10" "73550880" "73550880" "subst" "4.96915E-5" "00006" "CDH23_000007" "g.73550880G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71791123G>A" "" "pathogenic (recessive)" "" "0000943971" "3" "70" "10" "73550922" "73550922" "subst" "4.12487E-6" "00006" "CDH23_000986" "g.73550922A>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71791165A>C" "" "likely pathogenic (recessive)" "ACMG" "0000943972" "3" "90" "10" "73550972" "73550972" "subst" "0" "00006" "CDH23_000138" "g.73550972G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71791215G>A" "" "pathogenic (recessive)" "" "0000943973" "3" "90" "10" "73550972" "73550972" "subst" "0" "00006" "CDH23_000138" "g.73550972G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71791215G>A" "" "pathogenic (recessive)" "" "0000943974" "3" "70" "10" "73551041" "73551041" "subst" "8.13226E-6" "00006" "CDH23_000987" "g.73551041A>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71791284A>C" "" "likely pathogenic (recessive)" "ACMG" "0000943975" "3" "90" "10" "73553289" "73553289" "subst" "4.06868E-6" "00006" "CDH23_000135" "g.73553289G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71793532G>A" "" "pathogenic (recessive)" "" "0000943976" "3" "90" "10" "73563119" "73563119" "subst" "2.71865E-5" "00006" "CDH23_000988" "g.73563119A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71803362A>G" "" "pathogenic (recessive)" "" "0000943977" "3" "90" "10" "73565680" "73565682" "del" "0" "00006" "CDH23_000315" "g.73565680_73565682del" "" "{PMID:Richard 2019: 30303587}" "" "7987_7989delTTC" "" "Germline" "" "" "0" "" "" "g.71805923_71805925del" "" "pathogenic (recessive)" "" "0000943978" "3" "90" "10" "73567315" "73567316" "ins" "0" "00006" "CDH23_000989" "g.73567315_73567316insCGAT" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71807558_71807559insCGAT" "" "pathogenic (recessive)" "ACMG" "0000944272" "3" "90" "10" "73563119" "73563119" "subst" "2.71865E-5" "00006" "CDH23_000988" "g.73563119A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71803362A>G" "" "pathogenic (recessive)" "" "0000944275" "2" "90" "10" "73550171" "73550171" "subst" "0" "00006" "CDH23_000137" "g.73550171G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.71790414G>A" "" "pathogenic (recessive)" "" "0000944327" "0" "90" "10" "73538009" "73538009" "subst" "0.000316764" "00006" "CDH23_000340" "g.73538009G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71778252G>A" "" "pathogenic (dominant)" "" "0000944469" "0" "50" "10" "73574902" "73574902" "subst" "2.51088E-5" "00006" "CDH23_000990" "g.73574902C>T" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71815145C>T" "" "VUS" "" "0000944513" "3" "90" "10" "73563119" "73563119" "subst" "2.71865E-5" "00006" "CDH23_000988" "g.73563119A>G" "" "{PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs780917129" "0" "" "" "g.71803362A>G" "" "pathogenic (recessive)" "" "0000949428" "0" "30" "10" "73464764" "73464764" "subst" "0.0012298" "02326" "CDH23_000607" "g.73464764A>G" "" "" "" "CDH23(NM_001171930.1):c.2830A>G (p.(Ser944Gly)), CDH23(NM_022124.5):c.2830A>G (p.S944G), CDH23(NM_022124.6):c.2830A>G (p.S944G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949429" "0" "30" "10" "73466774" "73466774" "subst" "0.000921284" "02330" "CDH23_000335" "g.73466774G>A" "" "" "" "CDH23(NM_022124.6):c.3074G>A (p.G1025D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949430" "0" "50" "10" "73491848" "73491848" "subst" "8.12222E-6" "02327" "CDH23_000991" "g.73491848G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949431" "0" "50" "10" "73553017" "73553017" "subst" "0" "02330" "CDH23_000992" "g.73553017G>A" "" "" "" "CDH23(NM_022124.6):c.6332G>A (p.G2111E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949432" "0" "50" "10" "73565744" "73565744" "subst" "0" "02330" "CDH23_000993" "g.73565744C>T" "" "" "" "CDH23(NM_022124.6):c.8054C>T (p.A2685V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949433" "0" "30" "10" "73569629" "73569629" "subst" "3.25874E-5" "02330" "CDH23_000994" "g.73569629C>T" "" "" "" "CDH23(NM_022124.6):c.8775C>T (p.P2925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949434" "0" "30" "10" "73574873" "73574873" "subst" "0.00179088" "02326" "CDH23_000179" "g.73574873C>T" "" "" "" "CDH23(NM_022124.5):c.9903C>T (p.P3301=), CDH23(NM_022124.6):c.9903C>T (p.P3301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958747" "3" "70" "10" "73550880" "73550880" "subst" "4.96915E-5" "00006" "CDH23_000007" "g.73550880G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP3, PS3" "Germline" "" "" "0" "" "" "g.71791123G>A" "46001" "likely pathogenic (recessive)" "ACMG" "0000958787" "0" "70" "10" "73466716" "73466716" "subst" "8.58104E-6" "00006" "CDH23_000327" "g.73466716G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.71706959G>A" "618010" "likely pathogenic (recessive)" "ACMG" "0000958840" "0" "50" "10" "73461950" "73461950" "subst" "4.07694E-5" "00006" "CDH23_000996" "g.73461950G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.71702193G>A" "" "VUS" "ACMG" "0000958841" "0" "50" "10" "73461950" "73461950" "subst" "4.07694E-5" "00006" "CDH23_000996" "g.73461950G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.71702193G>A" "" "VUS" "ACMG" "0000958875" "0" "70" "10" "73493993" "73493995" "delins" "0" "00006" "CDH23_000997" "g.73493993_73493995delinsTCT" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.71734236_71734238delinsTCT" "" "likely pathogenic (recessive)" "ACMG" "0000958978" "0" "50" "10" "73499446" "73499446" "subst" "0.000314388" "00006" "CDH23_000504" "g.73499446A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.71739689A>G" "" "VUS" "ACMG" "0000959243" "0" "90" "10" "73270971" "73270971" "subst" "4.06157E-6" "00006" "CDH23_000995" "g.73270971T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.71511214T>C" "1275785" "pathogenic (recessive)" "ACMG" "0000959269" "0" "50" "10" "73558137" "73558137" "subst" "2.0307E-5" "00006" "CDH23_000999" "g.73558137G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.71798380G>A" "" "VUS" "ACMG" "0000959272" "0" "50" "10" "73558137" "73558137" "subst" "2.0307E-5" "00006" "CDH23_000999" "g.73558137G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.71798380G>A" "" "VUS" "ACMG" "0000959316" "0" "50" "10" "73563128" "73563128" "subst" "0.000670587" "00006" "CDH23_000132" "g.73563128G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.71803371G>A" "" "VUS" "ACMG" "0000959428" "0" "50" "10" "73500672" "73500672" "subst" "0.000129956" "00006" "CDH23_000998" "g.73500672G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.71740915G>A" "" "VUS" "ACMG" "0000965814" "0" "30" "10" "73461953" "73461953" "subst" "0.000387347" "02330" "CDH23_000605" "g.73461953G>A" "" "" "" "CDH23(NM_022124.5):c.2572G>A (p.V858I), CDH23(NM_022124.6):c.2572G>A (p.V858I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965817" "0" "30" "10" "73464860" "73464860" "subst" "0.000220266" "02330" "CDH23_000657" "g.73464860A>G" "" "" "" "CDH23(NM_022124.5):c.2926A>G (p.S976G), CDH23(NM_022124.6):c.2926A>G (p.S976G, p.(Ser976Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965819" "0" "50" "10" "73491849" "73491849" "subst" "0" "02327" "CDH23_001000" "g.73491849A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965820" "0" "30" "10" "73501673" "73501673" "subst" "2.36054E-5" "02330" "CDH23_001001" "g.73501673C>T" "" "" "" "CDH23(NM_022124.6):c.4840C>T (p.L1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965823" "0" "10" "10" "73550052" "73550052" "subst" "0.000565606" "02330" "CDH23_000955" "g.73550052T>C" "" "" "" "CDH23(NM_022124.5):c.5931T>C (p.P1977=), CDH23(NM_022124.6):c.5931T>C (p.P1977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000979110" "0" "50" "10" "73270955" "73270955" "subst" "8.52896E-5" "01804" "CDH23_000372" "g.73270955G>A" "" "" "" "CDH23(NM_022124.5):c.415G>A (p.V139I), CDH23(NM_022124.6):c.415G>A (p.V139I, p.(Val139Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979111" "0" "50" "10" "73405596" "73405596" "subst" "1.62824E-5" "01804" "CDH23_001002" "g.73405596C>A" "" "" "" "CDH23(NM_022124.6):c.1149C>A (p.(Asn383Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979112" "0" "50" "10" "73437243" "73437245" "del" "0" "01804" "CDH23_000455" "g.73437243_73437245del" "" "" "" "CDH23(NM_022124.6):c.1545_1547del (p.(Ile515del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979113" "0" "50" "10" "73450264" "73450264" "subst" "0" "01804" "CDH23_001003" "g.73450264G>A" "" "" "" "CDH23(NM_022124.6):c.2099G>A (p.(Arg700His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979114" "0" "50" "10" "73490334" "73490334" "subst" "6.50962E-5" "01804" "CDH23_001004" "g.73490334G>A" "" "" "" "CDH23(NM_022124.6):c.3688G>A (p.(Val1230Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979115" "0" "30" "10" "73537433" "73537433" "subst" "0" "01804" "CDH23_001005" "g.73537433A>T" "" "" "" "CDH23(NM_022124.6):c.4846-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979116" "0" "50" "10" "73544663" "73544663" "subst" "1.62466E-5" "01804" "CDH23_000523" "g.73544663C>T" "" "" "" "CDH23(NM_022124.5):c.5518C>T (p.R1840W), CDH23(NM_022124.6):c.5518C>T (p.R1840W, p.(Arg1840Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979117" "0" "50" "10" "73544856" "73544856" "subst" "8.96634E-5" "01804" "CDH23_000735" "g.73544856C>T" "" "" "" "CDH23(NM_022124.5):c.5711C>T (p.T1904M), CDH23(NM_022124.6):c.5711C>T (p.(Thr1904Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979118" "0" "50" "10" "73553017" "73553017" "subst" "0" "02327" "CDH23_000992" "g.73553017G>A" "" "" "" "CDH23(NM_022124.6):c.6332G>A (p.G2111E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979119" "0" "50" "10" "73562787" "73562787" "subst" "4.06454E-5" "01804" "CDH23_001006" "g.73562787G>C" "" "" "" "CDH23(NM_022124.6):c.7615G>C (p.(Gly2539Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979120" "0" "50" "10" "73565744" "73565744" "subst" "0" "02327" "CDH23_000993" "g.73565744C>T" "" "" "" "CDH23(NM_022124.6):c.8054C>T (p.A2685V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979121" "0" "30" "10" "73565917" "73565917" "subst" "1.87035E-5" "01804" "CDH23_001007" "g.73565917G>A" "" "" "" "CDH23(NM_022124.6):c.8065-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979122" "0" "70" "10" "73566006" "73566006" "del" "5.66033E-6" "01804" "CDH23_000647" "g.73566006del" "" "" "" "CDH23(NM_022124.6):c.8146del (p.(Asp2716MetfsTer8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979123" "0" "50" "10" "73567423" "73567423" "subst" "4.0662E-6" "01804" "CDH23_001008" "g.73567423C>T" "" "" "" "CDH23(NM_022124.6):c.8459C>T (p.(Thr2820Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979124" "0" "50" "10" "73571179" "73571179" "subst" "4.06494E-6" "01804" "CDH23_000822" "g.73571179T>C" "" "" "" "CDH23(NM_022124.5):c.9185T>C (p.M3062T), CDH23(NM_022124.6):c.9185T>C (p.(Met3062Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979125" "0" "50" "10" "73572214" "73572229" "del" "0" "01804" "CDH23_001009" "g.73572214_73572229del" "" "" "" "CDH23(NM_022124.6):c.9381-23_9381-8del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979126" "0" "50" "10" "73579217" "73579217" "subst" "0" "01804" "CDH23_001010" "g.73579217C>G" "" "" "" "PSAP(NM_002778.4):c.1350+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998484" "0" "10" "10" "73406232" "73406232" "subst" "0.00278516" "02326" "CDH23_000234" "g.73406232G>A" "" "" "" "CDH23(NM_022124.5):c.1307G>A (p.S436N), CDH23(NM_022124.6):c.1307G>A (p.S436N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000998485" "0" "30" "10" "73492050" "73492050" "subst" "0" "01804" "CDH23_001012" "g.73492050A>G" "" "" "" "CDH23(NM_022124.5):c.4022A>G (p.(Gln1341Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007041" "0" "90" "10" "73464800" "73464800" "subst" "3.28383E-5" "03544" "CDH23_000352" "g.73464800G>A" "" "" "" "" "" "Germline" "yes" "rs756147087" "0" "" "" "g.71705043G>A" "{CV:444219}" "pathogenic" "ACMG" "0001007042" "0" "70" "10" "73442231" "73442231" "subst" "0" "03544" "CDH23_001011" "g.73442231G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.71682474G>T" "" "likely pathogenic" "ACMG" "0001014646" "0" "50" "10" "73375363" "73375363" "subst" "0" "02327" "CDH23_001013" "g.73375363T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014647" "0" "50" "10" "73498385" "73498385" "subst" "0" "02327" "CDH23_001014" "g.73498385A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014648" "0" "50" "10" "73558201" "73558201" "subst" "0" "02327" "CDH23_001015" "g.73558201A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014649" "0" "90" "10" "73565590" "73565590" "subst" "0" "02327" "CDH23_001016" "g.73565590G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001030078" "3" "70" "10" "73571178" "73571179" "del" "0" "04333" "CDH23_001017" "g.73571178_73571179del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71811421_71811422del" "" "pathogenic (recessive)" "" "0001030150" "0" "30" "10" "73377112" "73377112" "subst" "0.00729672" "03779" "CDH23_000039" "g.73377112G>A" "" "" "" "" "" "Unknown" "" "rs143282422" "0" "" "" "" "" "likely benign" "" "0001037974" "0" "50" "10" "73375281" "73375281" "subst" "0" "01804" "CDH23_001018" "g.73375281G>C" "" "" "" "CDH23(NM_022124.6):c.853G>C (p.(Ala285Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037975" "0" "30" "10" "73377163" "73377163" "subst" "0.00495366" "01804" "CDH23_001019" "g.73377163A>G" "" "" "" "CDH23(NM_001171932.2):c.1147A>G (p.(Thr383Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037976" "0" "30" "10" "73406448" "73406448" "subst" "0.00217672" "01804" "CDH23_000697" "g.73406448G>T" "" "" "" "CDH23(NM_052836.3):c.1523G>T (p.C508F), CDH23(NM_052836.4):c.1523G>T (p.C508F, p.(Cys508Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037977" "0" "50" "10" "73437335" "73437335" "subst" "8.81028E-5" "01804" "CDH23_001020" "g.73437335G>A" "" "" "" "CDH23(NM_022124.6):c.1637G>A (p.(Arg546Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037978" "0" "50" "10" "73442210" "73442210" "subst" "0.00022722" "01804" "CDH23_000782" "g.73442210G>A" "" "" "" "CDH23(NM_022124.5):c.1867G>A (p.V623I), CDH23(NM_022124.6):c.1867G>A (p.(Val623Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037979" "0" "50" "10" "73442333" "73442333" "subst" "0" "02330" "CDH23_001021" "g.73442333A>G" "" "" "" "CDH23(NM_022124.6):c.1986+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037980" "0" "50" "10" "73464860" "73464860" "subst" "0.000220266" "01804" "CDH23_000657" "g.73464860A>G" "" "" "" "CDH23(NM_022124.5):c.2926A>G (p.S976G), CDH23(NM_022124.6):c.2926A>G (p.S976G, p.(Ser976Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037981" "0" "50" "10" "73468899" "73468899" "subst" "0" "01804" "CDH23_001022" "g.73468899G>A" "" "" "" "CDH23(NM_022124.6):c.3151G>A (p.(Val1051Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037982" "0" "50" "10" "73472496" "73472496" "subst" "1.22422E-5" "01804" "CDH23_001023" "g.73472496C>T" "" "" "" "CDH23(NM_022124.6):c.3295C>T (p.(Arg1099Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037983" "0" "30" "10" "73490265" "73490265" "subst" "0.00356832" "01804" "CDH23_001024" "g.73490265G>A" "" "" "" "CDH23(NM_022124.6):c.3619G>A (p.(Val1207Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037984" "0" "90" "10" "73490301" "73490301" "subst" "0" "02327" "CDH23_000402" "g.73490301C>T" "" "" "" "CDH23(NM_022124.5):c.3655C>T (p.R1219*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037985" "0" "50" "10" "73553265" "73553265" "subst" "0" "01804" "CDH23_001025" "g.73553265G>A" "" "" "" "CDH23(NM_022124.6):c.6580G>A (p.(Ala2194Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037986" "0" "50" "10" "73563128" "73563128" "subst" "0.000670587" "01804" "CDH23_000132" "g.73563128G>A" "" "" "" "CDH23(NM_022124.5):c.7823G>A (p.R2608H), CDH23(NM_022124.6):c.7823G>A (p.(Arg2608His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037987" "0" "50" "10" "73567375" "73567375" "subst" "4.06464E-5" "01804" "CDH23_001026" "g.73567375A>G" "" "" "" "CDH23(NM_022124.6):c.8411A>G (p.(Lys2804Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037988" "0" "50" "10" "73570316" "73570316" "subst" "4.06194E-6" "01804" "CDH23_000761" "g.73570316G>C" "" "" "" "CDH23(NM_022124.6):c.9067G>C (p.D3023H, p.(Asp3023His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037989" "0" "30" "10" "73571202" "73571202" "subst" "8.53832E-5" "01804" "CDH23_001027" "g.73571202G>A" "" "" "" "CDH23(NM_022124.6):c.9198+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037990" "0" "50" "10" "73571482" "73571482" "subst" "6.87657E-5" "01804" "CDH23_001028" "g.73571482G>T" "" "" "" "CDH23(NM_022124.6):c.9291G>T (p.(Lys3097Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037991" "0" "30" "10" "73575006" "73575006" "subst" "0.000562776" "01804" "CDH23_000221" "g.73575006G>C" "" "" "" "CDH23(NM_022124.6):c.10036G>C (p.(Glu3346Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037992" "0" "50" "10" "73580068" "73580068" "subst" "4.06055E-6" "01804" "CDH23_001029" "g.73580068C>G" "" "" "" "PSAP(NM_002778.4):c.934G>C (p.(Asp312His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CDH23 ## Count = 2745 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein/Domain}}" "0000000141" "00000016" "50" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "" "" "0000000142" "00000016" "50" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "" "" "0000000143" "00000016" "50" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "" "" "0000000144" "00000016" "50" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "" "" "0000000145" "00000016" "50" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "" "" "0000000146" "00000016" "50" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "" "" "0000000147" "00000016" "50" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "" "" "0000000148" "00000016" "50" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "" "" "0000000149" "00000016" "50" "3293" "0" "3293" "0" "c.3293A>G" "r.(?)" "p.(Asn1098Ser)" "" "" "0000000150" "00000016" "50" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "" "0000000151" "00000016" "50" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "" "" "0000004905" "00000016" "50" "5100" "0" "5100" "0" "c.5100C>T" "r.(?)" "p.(=)" "" "" "0000021276" "00000016" "70" "4180" "0" "4180" "0" "c.4180G>A" "r.(?)" "p.(Gly1394Ser)" "33" "" "0000021277" "00000016" "70" "9720" "0" "9720" "0" "c.9720C>G" "r.(?)" "p.(Cys3240Trp)" "69" "" "0000089786" "00000016" "90" "683" "0" "683" "0" "c.683A>T" "r.(?)" "p.(Asp228Val)" "8" "" "0000089900" "00000016" "50" "9616" "0" "9616" "0" "c.9616C>T" "r.(?)" "p.(Arg3206Cys)" "68" "" "0000091215" "00000016" "90" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "54" "" "0000091216" "00000016" "90" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "54" "" "0000096185" "00000016" "70" "2878" "0" "2878" "0" "c.2878G>A" "r.(?)" "p.(Glu960Lys)" "24" "" "0000128978" "00000016" "70" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "47" "" "0000128979" "00000016" "70" "1545" "0" "1547" "0" "c.1545_1547del" "r.(?)" "p.(Ile515del)" "" "" "0000128986" "00000016" "70" "2096" "0" "2096" "0" "c.2096A>G" "r.(?)" "p.(Asp699Gly)" "" "" "0000128987" "00000016" "70" "4562" "0" "4562" "0" "c.4562A>G" "r.(?)" "p.(Asn1521Ser)" "" "" "0000129004" "00000016" "70" "8480" "0" "8481" "0" "c.8480_8481del" "r.(?)" "p.(Leu2827Hisfs*23)" "" "" "0000129005" "00000016" "70" "8480" "0" "8481" "0" "c.8480_8481del" "r.(?)" "p.(Leu2827Hisfs*23)" "" "" "0000130282" "00000016" "90" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "8" "" "0000130571" "00000016" "70" "5138" "0" "5138" "0" "c.5138C>A" "r.(?)" "p.(Ala1713Asp)" "38" "" "0000130572" "00000016" "90" "4853" "0" "4853" "0" "c.4853C>A" "r.(?)" "p.(Thr1618Lys)" "39" "" "0000130574" "00000016" "90" "8574" "0" "8574" "0" "c.8574del" "r.(?)" "p.(Asp2858Glufs*8)" "58" "" "0000246888" "00000016" "10" "9758" "0" "9758" "0" "c.9758A>C" "r.(?)" "p.(Asp3253Ala)" "" "" "0000246962" "00000016" "50" "4405" "0" "4405" "0" "c.4405A>G" "r.(?)" "p.(Ile1469Val)" "" "" "0000246963" "00000016" "50" "5209" "0" "5209" "0" "c.5209A>G" "r.(?)" "p.(Ile1737Val)" "" "" "0000248855" "00000016" "10" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "" "" "0000249143" "00000016" "10" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "" "" "0000254151" "00000016" "30" "9758" "0" "9758" "0" "c.9758A>C" "r.(?)" "p.(Asp3253Ala)" "" "" "0000254753" "00000016" "30" "3293" "0" "3293" "0" "c.3293A>G" "r.(?)" "p.(Asn1098Ser)" "" "" "0000254921" "00000016" "30" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Gln58Arg)" "" "" "0000255268" "00000016" "30" "832" "8" "832" "8" "c.832+8A>G" "r.(=)" "p.(=)" "" "" "0000256040" "00000016" "50" "7864" "0" "7864" "0" "c.7864A>G" "r.(?)" "p.(Ile2622Val)" "" "" "0000256404" "00000016" "50" "1778" "0" "1778" "0" "c.1778A>C" "r.(?)" "p.(Asn593Thr)" "" "" "0000256526" "00000016" "50" "2926" "0" "2926" "0" "c.2926A>G" "r.(?)" "p.(Ser976Gly)" "" "" "0000263821" "00000016" "10" "4203" "0" "4203" "0" "c.4203C>T" "r.(?)" "p.(Thr1401=)" "" "" "0000263822" "00000016" "30" "4045" "0" "4045" "0" "c.4045C>T" "r.(?)" "p.(Arg1349Cys)" "" "" "0000263823" "00000016" "10" "3999" "0" "3999" "0" "c.3999G>A" "r.(?)" "p.(Val1333=)" "" "" "0000263824" "00000016" "30" "3895" "0" "3895" "0" "c.3895G>A" "r.(?)" "p.(Val1299Ile)" "" "" "0000264402" "00000016" "10" "1134" "22" "1134" "22" "c.1134+22C>T" "r.(=)" "p.(=)" "" "" "0000264403" "00000016" "50" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Glu574Lys)" "" "" "0000264404" "00000016" "50" "1831" "0" "1831" "0" "c.1831G>A" "r.(?)" "p.(Asp611Asn)" "" "" "0000264405" "00000016" "10" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(Val66=)" "" "" "0000264408" "00000016" "10" "2289" "20" "2289" "20" "c.2289+20G>A" "r.(=)" "p.(=)" "" "" "0000264409" "00000016" "10" "2290" "-13" "2290" "-13" "c.2290-13del" "r.(=)" "p.(=)" "" "" "0000264410" "00000016" "30" "2337" "0" "2337" "0" "c.2337G>A" "r.(?)" "p.(Lys779=)" "" "" "0000264411" "00000016" "10" "2587" "16" "2587" "16" "c.2587+16G>A" "r.(=)" "p.(=)" "" "" "0000264413" "00000016" "30" "2733" "17" "2733" "17" "c.2733+17T>G" "r.(=)" "p.(=)" "" "" "0000264414" "00000016" "50" "2776" "0" "2776" "0" "c.2776T>G" "r.(?)" "p.(Ser926Ala)" "" "" "0000264415" "00000016" "10" "2976" "0" "2976" "0" "c.2976G>A" "r.(?)" "p.(Thr992=)" "" "" "0000264416" "00000016" "50" "3179" "0" "3179" "0" "c.3179G>A" "r.(?)" "p.(Arg1060Gln)" "" "" "0000264417" "00000016" "10" "3369" "12" "3369" "12" "c.3369+12G>A" "r.(=)" "p.(=)" "" "" "0000264419" "00000016" "30" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Ala129=)" "" "" "0000264423" "00000016" "30" "4068" "0" "4068" "0" "c.4068C>G" "r.(?)" "p.(Thr1356=)" "" "" "0000264425" "00000016" "10" "4846" "-19" "4846" "-19" "c.4846-19G>C" "r.(=)" "p.(=)" "" "" "0000264426" "00000016" "10" "4947" "0" "4947" "0" "c.4947G>A" "r.(?)" "p.(Thr1649=)" "" "" "0000264427" "00000016" "10" "5026" "0" "5026" "0" "c.5026G>A" "r.(?)" "p.(Ala1676Thr)" "" "" "0000264428" "00000016" "30" "5067" "15" "5067" "15" "c.5067+15G>A" "r.(=)" "p.(=)" "" "" "0000264429" "00000016" "30" "5130" "0" "5130" "0" "c.5130C>A" "r.(?)" "p.(Ile1710=)" "" "" "0000264430" "00000016" "10" "5297" "0" "5297" "0" "c.5297T>C" "r.(?)" "p.(Phe1766Ser)" "" "" "0000264431" "00000016" "30" "5419" "0" "5419" "0" "c.5419G>A" "r.(?)" "p.(Val1807Met)" "" "" "0000264432" "00000016" "10" "5541" "0" "5541" "0" "c.5541C>T" "r.(?)" "p.(Asn1847=)" "" "" "0000264433" "00000016" "10" "5544" "0" "5544" "0" "c.5544C>T" "r.(?)" "p.(Asp1848=)" "" "" "0000264434" "00000016" "90" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.(=)" "p.(=)" "" "" "0000264435" "00000016" "10" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Thr204=)" "" "" "0000264436" "00000016" "30" "6275" "0" "6275" "0" "c.6275C>T" "r.(?)" "p.(Thr2092Ile)" "" "" "0000264437" "00000016" "10" "6429" "0" "6429" "0" "c.6429G>A" "r.(?)" "p.(Thr2143=)" "" "" "0000264438" "00000016" "50" "6464" "0" "6464" "0" "c.6464C>T" "r.(?)" "p.(Ser2155Leu)" "" "" "0000264439" "00000016" "10" "6468" "0" "6468" "0" "c.6468C>A" "r.(?)" "p.(Gly2156=)" "" "" "0000264440" "00000016" "10" "6596" "0" "6596" "0" "c.6596T>A" "r.(?)" "p.(Ile2199Asn)" "" "" "0000264441" "00000016" "10" "67" "19" "67" "19" "c.67+19G>A" "r.(=)" "p.(=)" "" "" "0000264442" "00000016" "10" "6852" "0" "6852" "0" "c.6852G>C" "r.(?)" "p.(Leu2284=)" "" "" "0000264443" "00000016" "10" "6918" "0" "6918" "0" "c.6918G>A" "r.(?)" "p.(Leu2306=)" "" "" "0000264444" "00000016" "10" "6990" "0" "6990" "0" "c.6990G>T" "r.(?)" "p.(Leu2330=)" "" "" "0000264445" "00000016" "10" "7131" "0" "7131" "0" "c.7131C>T" "r.(?)" "p.(Asn2377=)" "" "" "0000264446" "00000016" "50" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Thr254Met)" "" "" "0000264447" "00000016" "10" "7660" "18" "7660" "18" "c.7660+18G>A" "r.(=)" "p.(=)" "" "" "0000264448" "00000016" "10" "7722" "0" "7722" "0" "c.7722C>T" "r.(?)" "p.(Tyr2574=)" "" "" "0000264449" "00000016" "30" "8120" "0" "8120" "0" "c.8120C>T" "r.(?)" "p.(Pro2707Leu)" "" "" "0000264450" "00000016" "10" "8121" "0" "8121" "0" "c.8121G>T" "r.(?)" "p.(Pro2707=)" "" "" "0000264451" "00000016" "10" "8469" "0" "8469" "0" "c.8469G>C" "r.(?)" "p.(Leu2823=)" "" "" "0000264452" "00000016" "10" "8565" "0" "8565" "0" "c.8565G>A" "r.(?)" "p.(Val2855=)" "" "" "0000264453" "00000016" "10" "8823" "0" "8823" "0" "c.8823C>T" "r.(?)" "p.(Asn2941=)" "" "" "0000264454" "00000016" "10" "8980" "-12" "8980" "-12" "c.8980-12C>T" "r.(=)" "p.(=)" "" "" "0000264455" "00000016" "50" "9002" "0" "9002" "0" "c.9002G>A" "r.(?)" "p.(Arg3001Gln)" "" "" "0000264456" "00000016" "10" "9014" "0" "9014" "0" "c.9014C>G" "r.(?)" "p.(Ala3005Gly)" "" "" "0000264457" "00000016" "10" "9015" "0" "9015" "0" "c.9015G>A" "r.(?)" "p.(Ala3005=)" "" "" "0000264458" "00000016" "10" "9199" "-4" "9199" "-4" "c.9199-4G>C" "r.spl?" "p.?" "" "" "0000264459" "00000016" "10" "9204" "0" "9204" "0" "c.9204G>A" "r.(?)" "p.(Ala3068=)" "" "" "0000264460" "00000016" "10" "9238" "0" "9238" "0" "c.9238G>A" "r.(?)" "p.(Ala3080Thr)" "" "" "0000264461" "00000016" "50" "9447" "0" "9447" "0" "c.9447G>T" "r.(?)" "p.(Glu3149Asp)" "" "" "0000264462" "00000016" "10" "9450" "0" "9450" "0" "c.9450T>C" "r.(?)" "p.(Asp3150=)" "" "" "0000264463" "00000016" "10" "9510" "14" "9510" "14" "c.9510+14G>A" "r.(=)" "p.(=)" "" "" "0000264465" "00000016" "50" "9629" "0" "9629" "0" "c.9629T>C" "r.(?)" "p.(Ile3210Thr)" "" "" "0000264466" "00000016" "10" "9903" "0" "9903" "0" "c.9903C>T" "r.(?)" "p.(Pro3301=)" "" "" "0000266599" "00000016" "10" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(Asn772=)" "" "" "0000266600" "00000016" "10" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(Asp796=)" "" "" "0000266601" "00000016" "10" "3369" "298" "3369" "298" "c.3369+298C>G" "r.(=)" "p.(=)" "" "" "0000266602" "00000016" "10" "3369" "312" "3369" "312" "c.3369+312C>T" "r.(=)" "p.(=)" "" "" "0000266603" "00000016" "10" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(Val122=)" "" "" "0000266604" "00000016" "10" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "" "" "0000266605" "00000016" "10" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "" "" "0000266606" "00000016" "10" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "" "" "0000272914" "00000016" "30" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "" "0000272915" "00000016" "30" "1317" "0" "1317" "0" "c.1317C>T" "r.(?)" "p.(Asp439=)" "" "" "0000272916" "00000016" "50" "1449" "125" "1449" "125" "c.1449+125T>A" "r.(=)" "p.(=)" "" "" "0000272917" "00000016" "50" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "" "" "0000272918" "00000016" "10" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(Val66=)" "" "" "0000272919" "00000016" "30" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Gly68=)" "" "" "0000272920" "00000016" "30" "2112" "0" "2112" "0" "c.2112C>T" "r.(?)" "p.(Tyr704=)" "" "" "0000272921" "00000016" "50" "2239" "0" "2239" "0" "c.2239C>T" "r.(?)" "p.(Arg747Cys)" "" "" "0000272922" "00000016" "50" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Arg76His)" "" "" "0000272923" "00000016" "50" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "" "" "0000272924" "00000016" "10" "3249" "0" "3249" "0" "c.3249G>A" "r.(?)" "p.(Thr1083=)" "" "" "0000272925" "00000016" "50" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161Gln)" "" "" "0000272926" "00000016" "50" "3508" "0" "3508" "0" "c.3508C>T" "r.(?)" "p.(Arg1170Trp)" "" "" "0000272927" "00000016" "50" "3598" "0" "3598" "0" "c.3598G>A" "r.(?)" "p.(Asp1200Asn)" "" "" "0000272928" "00000016" "50" "3983" "0" "3983" "0" "c.3983T>C" "r.(?)" "p.(Leu1328Pro)" "" "" "0000272929" "00000016" "30" "3999" "0" "3999" "0" "c.3999G>A" "r.(?)" "p.(Val1333=)" "" "" "0000272930" "00000016" "10" "4068" "0" "4068" "0" "c.4068C>G" "r.(?)" "p.(Thr1356=)" "" "" "0000272931" "00000016" "50" "4231" "0" "4231" "0" "c.4231G>A" "r.(?)" "p.(Glu1411Lys)" "" "" "0000272932" "00000016" "30" "4488" "7" "4488" "7" "c.4488+7C>T" "r.(=)" "p.(=)" "" "" "0000272933" "00000016" "50" "4648" "0" "4648" "0" "c.4648G>T" "r.(?)" "p.(Val1550Leu)" "" "" "0000272934" "00000016" "50" "4780" "0" "4780" "0" "c.4780C>T" "r.(?)" "p.(Arg1594Cys)" "" "" "0000272935" "00000016" "10" "4858" "0" "4858" "0" "c.4858G>A" "r.(?)" "p.(Val1620Met)" "" "" "0000272936" "00000016" "10" "4875" "0" "4875" "0" "c.4875G>A" "r.(?)" "p.(Val1625=)" "" "" "0000272937" "00000016" "50" "4892" "0" "4892" "0" "c.4892C>T" "r.(?)" "p.(Ala1631Val)" "" "" "0000272938" "00000016" "30" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Ser170=)" "" "" "0000272939" "00000016" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Ser175=)" "" "" "0000272940" "00000016" "30" "5312" "0" "5312" "0" "c.5312G>A" "r.(?)" "p.(Arg1771Gln)" "" "" "0000272941" "00000016" "50" "5443" "0" "5443" "0" "c.5443G>A" "r.(?)" "p.(Ala1815Thr)" "" "" "0000272942" "00000016" "50" "5518" "0" "5518" "0" "c.5518C>T" "r.(?)" "p.(Arg1840Trp)" "" "" "0000272943" "00000016" "30" "5541" "0" "5541" "0" "c.5541C>T" "r.(?)" "p.(Asn1847=)" "" "" "0000272944" "00000016" "30" "5544" "0" "5544" "0" "c.5544C>T" "r.(?)" "p.(Asp1848=)" "" "" "0000272945" "00000016" "50" "5563" "0" "5563" "0" "c.5563C>T" "r.(?)" "p.(Pro1855Ser)" "" "" "0000272946" "00000016" "30" "5595" "0" "5595" "0" "c.5595T>A" "r.(?)" "p.(Pro1865=)" "" "" "0000272947" "00000016" "50" "5644" "0" "5644" "0" "c.5644T>G" "r.(?)" "p.(Cys1882Gly)" "" "" "0000272949" "00000016" "30" "5937" "0" "5937" "0" "c.5937G>A" "r.(?)" "p.(Thr1979=)" "" "" "0000272950" "00000016" "90" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.(=)" "p.(=)" "" "" "0000272951" "00000016" "10" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "" "" "0000272952" "00000016" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107Gln)" "" "" "0000272953" "00000016" "50" "6547" "0" "6547" "0" "c.6547G>A" "r.(?)" "p.(Val2183Met)" "" "" "0000272954" "00000016" "50" "6689" "0" "6689" "0" "c.6689C>G" "r.(?)" "p.(Ala2230Gly)" "" "" "0000272955" "00000016" "30" "6852" "0" "6852" "0" "c.6852G>C" "r.(?)" "p.(Leu2284=)" "" "" "0000272956" "00000016" "10" "6918" "0" "6918" "0" "c.6918G>A" "r.(?)" "p.(Leu2306=)" "" "" "0000272957" "00000016" "50" "7114" "0" "7114" "0" "c.7114G>A" "r.(?)" "p.(Val2372Met)" "" "" "0000272958" "00000016" "30" "7131" "0" "7131" "0" "c.7131C>T" "r.(?)" "p.(Asn2377=)" "" "" "0000272959" "00000016" "50" "7148" "0" "7148" "0" "c.7148C>A" "r.(?)" "p.(Ala2383Glu)" "" "" "0000272960" "00000016" "50" "7468" "0" "7468" "0" "c.7468G>A" "r.(?)" "p.(Glu2490Lys)" "" "" "0000272961" "00000016" "50" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Arg256His)" "" "" "0000272962" "00000016" "30" "7722" "0" "7722" "0" "c.7722C>T" "r.(?)" "p.(Tyr2574=)" "" "" "0000272963" "00000016" "10" "7762" "0" "7762" "0" "c.7762G>C" "r.(?)" "p.(Glu2588Gln)" "" "" "0000272964" "00000016" "30" "8022" "0" "8022" "0" "c.8022G>A" "r.(?)" "p.(Gln2674=)" "" "" "0000272965" "00000016" "50" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Trp)" "" "" "0000272966" "00000016" "30" "8167" "0" "8167" "0" "c.8167G>C" "r.(?)" "p.(Val2723Leu)" "" "" "0000272967" "00000016" "90" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737AlafsTer2)" "" "" "0000272968" "00000016" "50" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Gly2771Ser)" "" "" "0000272969" "00000016" "50" "8530" "0" "8530" "0" "c.8530C>A" "r.(?)" "p.(Pro2844Thr)" "" "" "0000272970" "00000016" "50" "8731" "0" "8731" "0" "c.8731G>A" "r.(?)" "p.(Asp2911Asn)" "" "" "0000272971" "00000016" "50" "9049" "0" "9049" "0" "c.9049G>A" "r.(?)" "p.(Asp3017Asn)" "" "" "0000272972" "00000016" "50" "9059" "0" "9059" "0" "c.9059G>A" "r.(?)" "p.(Arg3020His)" "" "" "0000272973" "00000016" "10" "9077" "7" "9077" "7" "c.9077+7C>T" "r.(=)" "p.(=)" "" "" "0000272974" "00000016" "30" "9438" "0" "9438" "0" "c.9438G>A" "r.(?)" "p.(Ala3146=)" "" "" "0000272975" "00000016" "70" "9569" "0" "9569" "0" "c.9569C>T" "r.(?)" "p.(Ala3190Val)" "" "" "0000272976" "00000016" "30" "9738" "7" "9738" "7" "c.9738+7G>C" "r.(=)" "p.(=)" "" "" "0000272977" "00000016" "50" "9904" "0" "9904" "0" "c.9904G>A" "r.(?)" "p.(Glu3302Lys)" "" "" "0000297410" "00000016" "30" "15032" "0" "15032" "0" "c.*4967T>A" "r.(=)" "p.(=)" "" "" "0000321593" "00000016" "50" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Asp428Asn)" "" "" "0000321595" "00000016" "50" "2830" "0" "2830" "0" "c.2830A>G" "r.(?)" "p.(Ser944Gly)" "" "" "0000321596" "00000016" "50" "3305" "0" "3305" "0" "c.3305T>A" "r.(?)" "p.(Phe1102Tyr)" "" "" "0000321597" "00000016" "50" "4589" "0" "4589" "0" "c.4589C>T" "r.(?)" "p.(Pro1530Leu)" "" "" "0000321598" "00000016" "50" "4845" "9926" "4845" "9926" "c.4845+9926A>G" "r.(=)" "p.(=)" "" "" "0000321599" "00000016" "50" "6197" "0" "6197" "0" "c.6197G>A" "r.(?)" "p.(Arg2066Gln)" "" "" "0000321600" "00000016" "50" "8120" "0" "8120" "0" "c.8120C>T" "r.(?)" "p.(Pro2707Leu)" "" "" "0000321601" "00000016" "50" "9014" "0" "9014" "0" "c.9014C>G" "r.(?)" "p.(Ala3005Gly)" "" "" "0000321602" "00000016" "50" "9238" "0" "9238" "0" "c.9238G>A" "r.(?)" "p.(Ala3080Thr)" "" "" "0000321604" "00000016" "50" "9670" "0" "9670" "0" "c.9670C>T" "r.(?)" "p.(Arg3224Trp)" "" "" "0000321605" "00000016" "50" "9758" "0" "9758" "0" "c.9758A>C" "r.(?)" "p.(Asp3253Ala)" "" "" "0000338672" "00000016" "30" "-258" "0" "-258" "0" "c.-258G>A" "r.(?)" "p.(=)" "" "" "0000338674" "00000016" "10" "-1" "0" "-1" "0" "c.-1C>T" "r.(?)" "p.(=)" "" "" "0000338675" "00000016" "10" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "" "" "0000338676" "00000016" "90" "624" "1" "624" "1" "c.624+1G>T" "r.spl?" "p.?" "" "" "0000338677" "00000016" "10" "3580" "-12" "3580" "-12" "c.3580-12C>T" "r.(=)" "p.(=)" "" "" "0000338678" "00000016" "10" "5503" "-10" "5503" "-10" "c.5503-10A>G" "r.(=)" "p.(=)" "" "" "0000338679" "00000016" "90" "5712" "0" "5712" "0" "c.5712G>A" "r.(?)" "p.(Thr1904=)" "" "" "0000338680" "00000016" "10" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "" "" "0000338681" "00000016" "10" "8980" "-14" "8980" "-14" "c.8980-14C>A" "r.(=)" "p.(=)" "" "" "0000338682" "00000016" "10" "9077" "8" "9077" "8" "c.9077+8G>A" "r.(=)" "p.(=)" "" "" "0000338683" "00000016" "10" "9319" "11" "9319" "11" "c.9319+11G>A" "r.(=)" "p.(=)" "" "" "0000340408" "00000016" "10" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(Val122=)" "" "" "0000340409" "00000016" "10" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(Asn772=)" "" "" "0000340410" "00000016" "10" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(Asp796=)" "" "" "0000340411" "00000016" "10" "2424" "0" "2424" "0" "c.2424G>A" "r.(?)" "p.(Gly808=)" "" "" "0000340412" "00000016" "10" "3009" "0" "3009" "0" "c.3009T>C" "r.(?)" "p.(Ser1003=)" "" "" "0000340413" "00000016" "10" "3801" "0" "3801" "0" "c.3801C>T" "r.(?)" "p.(Thr1267=)" "" "" "0000340414" "00000016" "10" "5100" "0" "5100" "0" "c.5100C>T" "r.(?)" "p.(Tyr1700=)" "" "" "0000340415" "00000016" "30" "6852" "0" "6852" "0" "c.6852G>C" "r.(?)" "p.(Leu2284=)" "" "" "0000340416" "00000016" "10" "7467" "0" "7467" "0" "c.7467C>T" "r.(?)" "p.(Arg2489=)" "" "" "0000340417" "00000016" "10" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(Ala2524=)" "" "" "0000340418" "00000016" "10" "8895" "0" "8895" "0" "c.8895C>T" "r.(?)" "p.(Pro2965=)" "" "" "0000340419" "00000016" "10" "9873" "0" "9873" "0" "c.9873G>A" "r.(?)" "p.(Thr3291=)" "" "" "0000340420" "00000016" "30" "15066" "0" "15066" "0" "c.*5001C>T" "r.(=)" "p.(=)" "" "" "0000340947" "00000016" "50" "4845" "0" "4845" "0" "c.4845G>A" "r.(?)" "p.(Ser1615=)" "" "" "0000341000" "00000016" "50" "7362" "0" "7362" "0" "c.7362G>A" "r.(?)" "p.(Thr2454=)" "" "" "0000341139" "00000016" "10" "3664" "0" "3664" "0" "c.3664G>A" "r.(?)" "p.(Ala1222Thr)" "" "" "0000341194" "00000016" "10" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "" "" "0000341400" "00000016" "10" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "" "0000341802" "00000016" "90" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Arg1236Ter)" "" "" "0000341924" "00000016" "90" "4309" "0" "4309" "0" "c.4309C>T" "r.(?)" "p.(Arg1437Ter)" "" "" "0000341925" "00000016" "10" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "" "" "0000341956" "00000016" "90" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502Ter)" "" "" "0000342002" "00000016" "50" "4780" "0" "4780" "0" "c.4780C>T" "r.(?)" "p.(Arg1594Cys)" "" "" "0000342060" "00000016" "50" "5117" "0" "5117" "0" "c.5117G>A" "r.(?)" "p.(Arg1706His)" "" "" "0000342104" "00000016" "10" "5411" "0" "5411" "0" "c.5411G>A" "r.(?)" "p.(Arg1804Gln)" "" "" "0000342127" "00000016" "50" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "" "" "0000342140" "00000016" "30" "5653" "0" "5653" "0" "c.5653C>T" "r.(?)" "p.(Arg1885Cys)" "" "" "0000342354" "00000016" "10" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "" "" "0000342636" "00000016" "50" "9670" "0" "9670" "0" "c.9670C>T" "r.(?)" "p.(Arg3224Trp)" "" "" "0000342816" "00000016" "10" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Cys)" "" "" "0000342938" "00000016" "50" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Arg457Trp)" "" "" "0000343135" "00000016" "50" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Trp)" "" "" "0000343521" "00000016" "30" "2891" "0" "2891" "0" "c.2891G>A" "r.(?)" "p.(Arg964Gln)" "" "" "0000343562" "00000016" "30" "3293" "0" "3293" "0" "c.3293A>G" "r.(?)" "p.(Asn1098Ser)" "" "" "0000343593" "00000016" "10" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "" "" "0000343642" "00000016" "50" "5945" "0" "5945" "0" "c.5945A>G" "r.(?)" "p.(Asn1982Ser)" "" "" "0000343937" "00000016" "50" "4661" "0" "4661" "0" "c.4661A>T" "r.(?)" "p.(Asp1554Val)" "" "" "0000343990" "00000016" "70" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "" "" "0000344003" "00000016" "50" "6853" "0" "6853" "0" "c.6853G>T" "r.(?)" "p.(Asp2285Tyr)" "" "" "0000344095" "00000016" "50" "1290" "0" "1290" "0" "c.1290T>G" "r.(?)" "p.(Asp430Glu)" "" "" "0000344179" "00000016" "70" "2096" "0" "2096" "0" "c.2096A>G" "r.(?)" "p.(Asp699Gly)" "" "" "0000344562" "00000016" "90" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "" "" "0000345186" "00000016" "50" "5266" "0" "5266" "0" "c.5266G>A" "r.(?)" "p.(Glu1756Lys)" "" "" "0000345205" "00000016" "50" "5584" "0" "5584" "0" "c.5584G>A" "r.(?)" "p.(Glu1862Lys)" "" "" "0000345213" "00000016" "30" "574" "0" "574" "0" "c.574G>C" "r.(?)" "p.(Glu192Gln)" "" "" "0000345225" "00000016" "10" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "" "" "0000345290" "00000016" "50" "7468" "0" "7468" "0" "c.7468G>A" "r.(?)" "p.(Glu2490Lys)" "" "" "0000346115" "00000016" "10" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "" "" "0000346306" "00000016" "50" "2591" "0" "2591" "0" "c.2591G>T" "r.(?)" "p.(Gly864Val)" "" "" "0000346495" "00000016" "50" "12241" "0" "12241" "0" "c.*2176T>A" "r.(=)" "p.(=)" "" "" "0000346522" "00000016" "30" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "" "" "0000346584" "00000016" "50" "4405" "0" "4405" "0" "c.4405A>G" "r.(?)" "p.(Ile1469Val)" "" "" "0000346666" "00000016" "50" "8877" "0" "8877" "0" "c.8877C>G" "r.(?)" "p.(Ile2959Met)" "" "" "0000347826" "00000016" "50" "1153" "0" "1153" "0" "c.1153A>T" "r.(?)" "p.(Met385Leu)" "" "" "0000348022" "00000016" "10" "9373" "0" "9373" "0" "c.9373T>C" "r.(?)" "p.(Phe3125Leu)" "" "" "0000348213" "00000016" "50" "4589" "0" "4589" "0" "c.4589C>T" "r.(?)" "p.(Pro1530Leu)" "" "" "0000348247" "00000016" "50" "5363" "0" "5363" "0" "c.5363C>T" "r.(?)" "p.(Pro1788Leu)" "" "" "0000348306" "00000016" "10" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "" "" "0000348725" "00000016" "50" "4423" "0" "4423" "0" "c.4423T>A" "r.(?)" "p.(Ser1475Thr)" "" "" "0000349056" "00000016" "10" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Ser496Asn)" "" "" "0000349216" "00000016" "30" "2830" "0" "2830" "0" "c.2830A>G" "r.(?)" "p.(Ser944Gly)" "" "" "0000349257" "00000016" "10" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "" "" "0000349352" "00000016" "10" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "" "" "0000349556" "00000016" "50" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "" "" "0000350227" "00000016" "50" "3008" "0" "3009" "0" "c.3008_3009insCGTGTACAA" "r.(?)" "p.(Val1004_Ser1005insTyrAsnVal)" "" "" "0000350327" "00000016" "50" "4816" "0" "4816" "0" "c.4816G>A" "r.(?)" "p.(Val1606Met)" "" "" "0000350339" "00000016" "10" "5023" "0" "5023" "0" "c.5023G>A" "r.(?)" "p.(Val1675Ile)" "" "" "0000350407" "00000016" "10" "6847" "0" "6847" "0" "c.6847G>A" "r.(?)" "p.(Val2283Ile)" "" "" "0000350680" "00000016" "30" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Val858Ile)" "" "" "0000350768" "00000016" "50" "624" "6" "624" "6" "c.624+6T>C" "r.(=)" "p.(=)" "" "" "0000351355" "00000016" "90" "946" "-2" "946" "-2" "c.946-2A>G" "r.spl?" "p.?" "" "" "0000351356" "00000016" "50" "1168" "0" "1168" "0" "c.1168T>C" "r.(?)" "p.(Leu390=)" "" "" "0000351359" "00000016" "90" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.(=)" "p.(=)" "" "" "0000351360" "00000016" "50" "9739" "-12" "9739" "-12" "c.9739-12G>A" "r.(=)" "p.(=)" "" "" "0000375708" "00000016" "11" "9077" "8" "9077" "8" "c.9077+8G>A" "r.(=)" "p.(=)" "62i" "" "0000375709" "00000016" "11" "9077" "8" "9077" "8" "c.9077+8G>A" "r.(=)" "p.(=)" "62i" "" "0000375710" "00000016" "11" "9077" "8" "9077" "8" "c.9077+8G>A" "r.(=)" "p.(=)" "62i" "" "0000375711" "00000016" "11" "9077" "8" "9077" "8" "c.9077+8G>A" "r.(=)" "p.(=)" "62i" "" "0000375715" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375716" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375717" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375718" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375719" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375720" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375721" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375722" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375723" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375724" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375725" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375726" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375727" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375728" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375729" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375730" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375731" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375732" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375733" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375734" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375735" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375736" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375737" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375738" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375739" "00000016" "99" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "Cadherin 17 (1745-1851)" "0000375740" "00000016" "99" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "36" "Cadherin 14 (1420-1527)" "0000375741" "00000016" "99" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "36" "Cadherin 14 (1420-1527)" "0000375742" "00000016" "99" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "36" "Cadherin 14 (1420-1527)" "0000375743" "00000016" "99" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "36" "Cadherin 14 (1420-1527)" "0000375744" "00000016" "99" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "36" "Cadherin 14 (1420-1527)" "0000375745" "00000016" "99" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "36" "Cadherin 14 (1420-1527)" "0000375746" "00000016" "99" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "36" "Cadherin 14 (1420-1527)" "0000375747" "00000016" "99" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "36" "Cadherin 14 (1420-1527)" "0000375748" "00000016" "99" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "36" "Cadherin 14 (1420-1527)" "0000375749" "00000016" "99" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "36" "Cadherin 14 (1420-1527)" "0000375750" "00000016" "99" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "36" "Cadherin 14 (1420-1527)" "0000375751" "00000016" "99" "7362" "5" "7362" "5" "c.7362+5G>A" "r.(?)" "p.(?)" "52i" "" "0000375752" "00000016" "99" "7362" "5" "7362" "5" "c.7362+5G>A" "r.(?)" "p.(?)" "52i" "" "0000375753" "00000016" "99" "7362" "5" "7362" "5" "c.7362+5G>A" "r.(?)" "p.(?)" "52i" "" "0000375754" "00000016" "99" "3842" "0" "3844" "0" "c.3842_3844del" "r.(?)" "p.(Met1281del)" "32" "Cadherin 12 (1210-1313)" "0000375755" "00000016" "99" "6933" "0" "6933" "0" "c.6933del" "r.(?)" "p.(Thr2313Profs*60)" "50" "Cadherin 22 (2297-2402)" "0000375756" "00000016" "99" "6933" "0" "6933" "0" "c.6933del" "r.(?)" "p.(Thr2313Profs*60)" "50" "Cadherin 22 (2297-2402)" "0000375757" "00000016" "99" "6933" "0" "6933" "0" "c.6933del" "r.(?)" "p.(Thr2313Profs*60)" "50" "Cadherin 22 (2297-2402)" "0000375758" "00000016" "99" "6933" "0" "6933" "0" "c.6933del" "r.(?)" "p.(Thr2313Profs*60)" "50" "Cadherin 22 (2297-2402)" "0000375759" "00000016" "99" "6933" "0" "6933" "0" "c.6933del" "r.(?)" "p.(Thr2313Profs*60)" "50" "Cadherin 22 (2297-2402)" "0000375760" "00000016" "99" "6933" "0" "6933" "0" "c.6933del" "r.(?)" "p.(Thr2313Profs*60)" "50" "Cadherin 22 (2297-2402)" "0000375761" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375762" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375763" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375764" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375765" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375766" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375767" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375768" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375769" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375770" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375771" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375772" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375773" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375774" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375775" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375776" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375777" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375778" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375779" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375780" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375781" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375782" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375783" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375784" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375785" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375786" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375787" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375788" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375789" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375790" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375791" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375792" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375793" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375794" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[=, 6050-7_6050-1ins]" "p.[=, Val2018Alafs*10]" "46i" "Cadherin 19 (1960-2069)" "0000375795" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375796" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375797" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375798" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375799" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375800" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375801" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375802" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375803" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375804" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375805" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375806" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375807" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375808" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375809" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375810" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375811" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375812" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375813" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375814" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375815" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375816" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375817" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375818" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375819" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375820" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375821" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375822" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375823" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375824" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375825" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375826" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375827" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375828" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375829" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375830" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375831" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375832" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375833" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375834" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375835" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375836" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375837" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375838" "00000016" "99" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.[(=, 6050-7_6050-1ins)]" "p.[(=, Val2018Alafs*10)]" "46i" "Cadherin 19 (1960-2069)" "0000375841" "00000016" "99" "5712" "0" "5712" "0" "c.5712G>A" "r.(?)" "p.(=)" "43" "Cadherin 18 (1852-1959)" "0000375842" "00000016" "99" "5712" "0" "5712" "0" "c.5712G>A" "r.(?)" "p.(=)" "43" "Cadherin 18 (1852-1959)" "0000375843" "00000016" "99" "5712" "0" "5712" "0" "c.5712G>A" "r.(?)" "p.(=)" "43" "Cadherin 18 (1852-1959)" "0000375844" "00000016" "75" "336" "0" "336" "0" "c.336G>C" "r.(?)" "p.(?)" "5" "Cadherin 1 (34-132)" "0000375845" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.(=)" "p.(=)" "49i" "" "0000375846" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.(=)" "p.(=)" "49i" "" "0000375847" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.(=)" "p.(=)" "49i" "" "0000375848" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.(=)" "p.(=)" "49i" "" "0000375849" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.(=)" "p.(=)" "49i" "" "0000375850" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.(=)" "p.(=)" "49i" "" "0000375851" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.(=)" "p.(=)" "49i" "" "0000375852" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.=" "p.=" "49i" "" "0000375853" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.(=)" "p.(=)" "49i" "" "0000375854" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.(=)" "p.(=)" "49i" "" "0000375855" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.(=)" "p.(=)" "49i" "" "0000375856" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.=" "p.=" "49i" "" "0000375857" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.(=)" "p.(=)" "49i" "" "0000375858" "00000016" "11" "6830" "-81" "6830" "-81" "c.6830-81G>A" "r.(=)" "p.(=)" "49i" "" "0000375862" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(=)" "54" "Cadherin 24 (2510-2611)" "0000375863" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(=)" "54" "Cadherin 24 (2510-2611)" "0000375864" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(=)" "54" "Cadherin 24 (2510-2611)" "0000375865" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(=)" "54" "Cadherin 24 (2510-2611)" "0000375866" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(=)" "54" "Cadherin 24 (2510-2611)" "0000375867" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(=)" "54" "Cadherin 24 (2510-2611)" "0000375868" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(=)" "54" "Cadherin 24 (2510-2611)" "0000375869" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.7572g>a" "p.=" "54" "Cadherin 24 (2510-2611)" "0000375870" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(=)" "54" "Cadherin 24 (2510-2611)" "0000375871" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(=)" "54" "Cadherin 24 (2510-2611)" "0000375872" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(=)" "54" "Cadherin 24 (2510-2611)" "0000375873" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.7572g>a" "p.=" "54" "Cadherin 24 (2510-2611)" "0000375874" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(=)" "54" "Cadherin 24 (2510-2611)" "0000375875" "00000016" "11" "7572" "0" "7572" "0" "c.7572G>A" "r.(?)" "p.(=)" "54" "Cadherin 24 (2510-2611)" "0000375882" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375883" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375884" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375885" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375886" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375887" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375888" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375889" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375890" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375891" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375892" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.7139c>u" "p.Pro2380Leu" "51" "Cadherin 22 (2297-2402)" "0000375893" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375894" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375895" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375896" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375897" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375898" "00000016" "11" "7139" "0" "7139" "0" "c.7139C>T" "r.(?)" "p.(Pro2380Leu)" "51" "Cadherin 22 (2297-2402)" "0000375902" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375903" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375904" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375905" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375906" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375907" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375908" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375909" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375910" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375911" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375912" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.7073g>a" "p.Arg2358Gln" "51" "Cadherin 22 (2297-2402)" "0000375913" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375914" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375915" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375916" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375917" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375918" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375919" "00000016" "11" "7073" "0" "7073" "0" "c.7073G>A" "r.(?)" "p.(Arg2358Gln)" "51" "Cadherin 22 (2297-2402)" "0000375920" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375921" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375922" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375923" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375924" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375925" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375926" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375927" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375928" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375929" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375930" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.=" "p.=" "50i" "" "0000375931" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375932" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375933" "00000016" "11" "7055" "-16" "7055" "-16" "c.7055-16A>G" "r.(=)" "p.(=)" "50i" "" "0000375937" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375938" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375939" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375940" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375941" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375942" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375943" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375944" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375945" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375946" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375947" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375948" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375949" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375950" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375953" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375954" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375955" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375956" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375957" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375958" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375959" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375960" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375961" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375962" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.=" "p.=" "16i" "" "0000375963" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375964" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375965" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375966" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375967" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375968" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375969" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375970" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375971" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375972" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375973" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375974" "00000016" "11" "1753" "-78" "1753" "-78" "c.1753-78A>T" "r.(=)" "p.(=)" "16i" "" "0000375979" "00000016" "99" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Arg736*)" "21" "Cadherin 7 (672-784)" "0000375980" "00000016" "99" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Arg736*)" "21" "Cadherin 7 (672-784)" "0000375981" "00000016" "99" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Arg736*)" "21" "Cadherin 7 (672-784)" "0000375985" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000375986" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000375987" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000375988" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000375989" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000375992" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000375993" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000375994" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000375995" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000375996" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000375997" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000375998" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000375999" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000376000" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000376001" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000376002" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000376003" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000376004" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000376005" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000376006" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000376007" "00000016" "11" "5996" "0" "5996" "0" "c.5996C>G" "r.(?)" "p.(Thr1999Ser)" "46" "Cadherin 19 (1960-2069)" "0000376008" "00000016" "99" "6620" "0" "6620" "0" "c.6620del" "r.(?)" "p.(Leu2207Glnfs*27)" "48" "Cadherin 21 (2175-2293)" "0000376009" "00000016" "11" "4846" "-49" "4846" "-49" "c.4846-49T>C" "r.(=)" "p.(=)" "38i" "" "0000376010" "00000016" "11" "4846" "-49" "4846" "-49" "c.4846-49T>C" "r.(=)" "p.(=)" "38i" "" "0000376011" "00000016" "11" "4846" "-49" "4846" "-49" "c.4846-49T>C" "r.(=)" "p.(=)" "38i" "" "0000376012" "00000016" "11" "4846" "-49" "4846" "-49" "c.4846-49T>C" "r.(=)" "p.(=)" "38i" "" "0000376013" "00000016" "11" "4846" "-49" "4846" "-49" "c.4846-49T>C" "r.(=)" "p.(=)" "38i" "" "0000376014" "00000016" "11" "4846" "-49" "4846" "-49" "c.4846-49T>C" "r.(=)" "p.(=)" "38i" "" "0000376015" "00000016" "11" "4846" "-49" "4846" "-49" "c.4846-49T>C" "r.(=)" "p.(=)" "38i" "" "0000376016" "00000016" "11" "4846" "-49" "4846" "-49" "c.4846-49T>C" "r.(=)" "p.(=)" "38i" "" "0000376017" "00000016" "11" "4846" "-49" "4846" "-49" "c.4846-49T>C" "r.(=)" "p.(=)" "38i" "" "0000376018" "00000016" "11" "4846" "-49" "4846" "-49" "c.4846-49T>C" "r.(=)" "p.(=)" "38i" "" "0000376022" "00000016" "11" "289" "-82" "289" "-82" "c.289-82C>T" "r.(=)" "p.(=)" "4i" "" "0000376023" "00000016" "11" "289" "-82" "289" "-82" "c.289-82C>T" "r.(=)" "p.(=)" "4i" "" "0000376024" "00000016" "11" "289" "-82" "289" "-82" "c.289-82C>T" "r.(=)" "p.(=)" "4i" "" "0000376025" "00000016" "11" "289" "-82" "289" "-82" "c.289-82C>T" "r.(=)" "p.(=)" "4i" "" "0000376026" "00000016" "11" "9319" "11" "9319" "11" "c.9319+11G>A" "r.(=)" "p.(=)" "65i" "" "0000376027" "00000016" "11" "9319" "11" "9319" "11" "c.9319+11G>A" "r.(=)" "p.(=)" "65i" "" "0000376028" "00000016" "11" "9319" "11" "9319" "11" "c.9319+11G>A" "r.(=)" "p.(=)" "65i" "" "0000376029" "00000016" "11" "9319" "11" "9319" "11" "c.9319+11G>A" "r.(=)" "p.(=)" "65i" "" "0000376030" "00000016" "11" "9319" "11" "9319" "11" "c.9319+11G>A" "r.(=)" "p.(=)" "65i" "" "0000376031" "00000016" "11" "8980" "-14" "8980" "-14" "c.8980-14C>A" "r.(=)" "p.(=)" "61i" "" "0000376032" "00000016" "11" "8980" "-14" "8980" "-14" "c.8980-14C>A" "r.(=)" "p.(=)" "61i" "" "0000376033" "00000016" "11" "8980" "-14" "8980" "-14" "c.8980-14C>A" "r.(=)" "p.(=)" "61i" "" "0000376034" "00000016" "11" "8895" "0" "8895" "0" "c.8895C>T" "r.(?)" "p.(=)" "61" "Cadherin 27 (2847-2975)" "0000376035" "00000016" "11" "8895" "0" "8895" "0" "c.8895C>T" "r.(?)" "p.(=)" "61" "Cadherin 27 (2847-2975)" "0000376036" "00000016" "11" "8895" "0" "8895" "0" "c.8895C>T" "r.(?)" "p.(=)" "61" "Cadherin 27 (2847-2975)" "0000376037" "00000016" "11" "8895" "0" "8895" "0" "c.8895C>T" "r.(?)" "p.(=)" "61" "Cadherin 27 (2847-2975)" "0000376038" "00000016" "11" "8895" "0" "8895" "0" "c.8895C>T" "r.8895c>u" "p.=" "61" "Cadherin 27 (2847-2975)" "0000376039" "00000016" "11" "8895" "0" "8895" "0" "c.8895C>T" "r.(?)" "p.(=)" "61" "Cadherin 27 (2847-2975)" "0000376043" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "47" "Cadherin 19 (1960-2069)" "0000376044" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "47" "Cadherin 19 (1960-2069)" "0000376045" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.6130g>a" "p.Glu2044Lys" "47" "Cadherin 19 (1960-2069)" "0000376046" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "47" "Cadherin 19 (1960-2069)" "0000376047" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "47" "Cadherin 19 (1960-2069)" "0000376048" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "47" "Cadherin 19 (1960-2069)" "0000376049" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.6130g>a" "p.Glu2044Lys" "47" "Cadherin 19 (1960-2069)" "0000376050" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "47" "Cadherin 19 (1960-2069)" "0000376051" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "47" "Cadherin 19 (1960-2069)" "0000376052" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "47" "Cadherin 19 (1960-2069)" "0000376053" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "47" "Cadherin 19 (1960-2069)" "0000376054" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "47" "Cadherin 19 (1960-2069)" "0000376055" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "47" "Cadherin 19 (1960-2069)" "0000376056" "00000016" "11" "5411" "0" "5411" "0" "c.5411G>A" "r.(?)" "p.(Arg1804Gln)" "42" "Cadherin 17 (1745-1851)" "0000376057" "00000016" "11" "5411" "0" "5411" "0" "c.5411G>A" "r.(?)" "p.(Arg1804Gln)" "42" "Cadherin 17 (1745-1851)" "0000376058" "00000016" "11" "5411" "0" "5411" "0" "c.5411G>A" "r.(?)" "p.(Arg1804Gln)" "42" "Cadherin 17 (1745-1851)" "0000376059" "00000016" "11" "5411" "0" "5411" "0" "c.5411G>A" "r.(?)" "p.(Arg1804Gln)" "42" "Cadherin 17 (1745-1851)" "0000376060" "00000016" "11" "5411" "0" "5411" "0" "c.5411G>A" "r.(?)" "p.(Arg1804Gln)" "42" "Cadherin 17 (1745-1851)" "0000376061" "00000016" "11" "5187" "99" "5187" "99" "c.5187+99T>C" "r.(=)" "p.(=)" "40i" "" "0000376062" "00000016" "11" "5187" "99" "5187" "99" "c.5187+99T>C" "r.(=)" "p.(=)" "40i" "" "0000376063" "00000016" "11" "5187" "99" "5187" "99" "c.5187+99T>C" "r.(=)" "p.(=)" "40i" "" "0000376064" "00000016" "11" "5187" "99" "5187" "99" "c.5187+99T>C" "r.(=)" "p.(=)" "40i" "" "0000376065" "00000016" "11" "5187" "99" "5187" "99" "c.5187+99T>C" "r.=" "p.=" "40i" "" "0000376066" "00000016" "11" "5187" "99" "5187" "99" "c.5187+99T>C" "r.(=)" "p.(=)" "40i" "" "0000376067" "00000016" "11" "5187" "99" "5187" "99" "c.5187+99T>C" "r.(=)" "p.(=)" "40i" "" "0000376068" "00000016" "11" "5187" "99" "5187" "99" "c.5187+99T>C" "r.(=)" "p.(=)" "40i" "" "0000376073" "00000016" "11" "5100" "0" "5100" "0" "c.5100C>T" "r.(?)" "p.(=)" "40" "Cadherin 16 (1635-1744)" "0000376074" "00000016" "11" "5100" "0" "5100" "0" "c.5100C>T" "r.(?)" "p.(=)" "40" "Cadherin 16 (1635-1744)" "0000376075" "00000016" "11" "5100" "0" "5100" "0" "c.5100C>T" "r.(?)" "p.(=)" "40" "Cadherin 16 (1635-1744)" "0000376076" "00000016" "11" "5100" "0" "5100" "0" "c.5100C>T" "r.(?)" "p.(=)" "40" "Cadherin 16 (1635-1744)" "0000376077" "00000016" "11" "5100" "0" "5100" "0" "c.5100C>T" "r.(?)" "p.(=)" "40" "Cadherin 16 (1635-1744)" "0000376081" "00000016" "11" "5187" "44" "5187" "44" "c.5187+44C>G" "r.(=)" "p.(=)" "40i" "" "0000376082" "00000016" "11" "5187" "44" "5187" "44" "c.5187+44C>G" "r.(=)" "p.(=)" "40i" "" "0000376083" "00000016" "11" "5187" "44" "5187" "44" "c.5187+44C>G" "r.(=)" "p.(=)" "40i" "" "0000376084" "00000016" "11" "5187" "44" "5187" "44" "c.5187+44C>G" "r.(=)" "p.(=)" "40i" "" "0000376085" "00000016" "11" "5187" "44" "5187" "44" "c.5187+44C>G" "r.(=)" "p.(=)" "40i" "" "0000376086" "00000016" "11" "5187" "44" "5187" "44" "c.5187+44C>G" "r.(=)" "p.(=)" "40i" "" "0000376087" "00000016" "11" "5187" "44" "5187" "44" "c.5187+44C>G" "r.=" "p.=" "40i" "" "0000376088" "00000016" "11" "5187" "44" "5187" "44" "c.5187+44C>G" "r.(=)" "p.(=)" "40i" "" "0000376089" "00000016" "11" "5187" "44" "5187" "44" "c.5187+44C>G" "r.(=)" "p.(=)" "40i" "" "0000376090" "00000016" "11" "5187" "44" "5187" "44" "c.5187+44C>G" "r.(=)" "p.(=)" "40i" "" "0000376091" "00000016" "11" "5187" "44" "5187" "44" "c.5187+44C>G" "r.(=)" "p.(=)" "40i" "" "0000376098" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376099" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376100" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376101" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376102" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376103" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376104" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376105" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376106" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376107" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376108" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376109" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376110" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376111" "00000016" "11" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "35" "Cadherin 14 (1420-1527)" "0000376112" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376113" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376114" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376115" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376116" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376117" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376118" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376119" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376120" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376121" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376122" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376123" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376124" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376125" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376126" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376127" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376128" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376129" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376130" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376131" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376132" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.=" "p.=" "33i" "" "0000376133" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.=" "p.=" "33i" "" "0000376134" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376135" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376136" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376137" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376138" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376139" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376140" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376141" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376142" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376143" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376144" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376145" "00000016" "11" "4206" "61" "4206" "61" "c.4206+61T>A" "r.(=)" "p.(=)" "33i" "" "0000376162" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376163" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376164" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376165" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376166" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376167" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376168" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376169" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376170" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376171" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376172" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376173" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376174" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376175" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376176" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376177" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376178" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376179" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376180" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376181" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376182" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376183" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp )" "32" "Cadherin 13 (1314-1418)" "0000376184" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp )" "32" "Cadherin 13 (1314-1418)" "0000376185" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376186" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376187" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376188" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376189" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376190" "00000016" "11" "4051" "0" "4051" "0" "c.4051A>G" "r.(?)" "p.(Asn1351Asp)" "32" "Cadherin 13 (1314-1418)" "0000376191" "00000016" "11" "3370" "-46" "3370" "-46" "c.3370-46T>C" "r.(=)" "p.(=)" "28i" "" "0000376192" "00000016" "11" "3370" "-46" "3370" "-46" "c.3370-46T>C" "r.(=)" "p.(=)" "28i" "" "0000376193" "00000016" "11" "3370" "-46" "3370" "-46" "c.3370-46T>C" "r.(=)" "p.(=)" "28i" "" "0000376194" "00000016" "11" "3370" "-46" "3370" "-46" "c.3370-46T>C" "r.(=)" "p.(=)" "28i" "" "0000376195" "00000016" "11" "3370" "-46" "3370" "-46" "c.3370-46T>C" "r.(=)" "p.(=)" "28i" "" "0000376196" "00000016" "11" "3370" "-46" "3370" "-46" "c.3370-46T>C" "r.(=)" "p.(=)" "28i" "" "0000376200" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000376201" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000376202" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000376203" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000376204" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000376205" "00000016" "35" "3293" "0" "3293" "0" "c.3293A>G" "r.(?)" "p.(Asn1098Ser)" "28" "Cadherin 10 (996-1102)" "0000376206" "00000016" "35" "3293" "0" "3293" "0" "c.3293A>G" "r.(?)" "p.(Asn1098Ser)" "28" "Cadherin 10 (996-1102)" "0000376207" "00000016" "11" "3009" "0" "3009" "0" "c.3009T>C" "r.(?)" "p.(=)" "26" "Cadherin 10 (996-1102)" "0000376208" "00000016" "11" "3009" "0" "3009" "0" "c.3009T>C" "r.(?)" "p.(=)" "26" "Cadherin 10 (996-1102)" "0000376209" "00000016" "11" "3009" "0" "3009" "0" "c.3009T>C" "r.(?)" "p.(=)" "26" "Cadherin 10 (996-1102)" "0000376210" "00000016" "11" "3009" "0" "3009" "0" "c.3009T>C" "r.(?)" "p.(=)" "26" "Cadherin 10 (996-1102)" "0000376211" "00000016" "11" "3009" "0" "3009" "0" "c.3009T>C" "r.(?)" "p.(=)" "26" "Cadherin 10 (996-1102)" "0000376212" "00000016" "11" "3009" "0" "3009" "0" "c.3009T>C" "r.(?)" "p.(=)" "26" "Cadherin 10 (996-1102)" "0000376216" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376217" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376218" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376219" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376220" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376221" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376222" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376223" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376224" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376225" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376226" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376227" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.=" "p.=" "22i" "" "0000376228" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.=" "p.=" "22i" "" "0000376229" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376230" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376231" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376232" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376233" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376234" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376235" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376236" "00000016" "11" "2397" "26" "2397" "26" "c.2397+26T>C" "r.(=)" "p.(=)" "22i" "" "0000376243" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376244" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376245" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376246" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376247" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376248" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376249" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376250" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376251" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376252" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376253" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376254" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376255" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376256" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.2388u>c" "p.=" "22" "Cadherin 8 (779-890)" "0000376257" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.2388u>c" "p.=" "22" "Cadherin 8 (779-890)" "0000376258" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376259" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376260" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376261" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376262" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376263" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376264" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376265" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376266" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376267" "00000016" "11" "2388" "0" "2388" "0" "c.2388T>C" "r.(?)" "p.(=)" "22" "Cadherin 8 (779-890)" "0000376276" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376277" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376278" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376279" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376280" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376281" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376282" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376283" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376284" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376285" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376286" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376287" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376288" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376289" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376290" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376291" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376292" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376293" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376294" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376295" "00000016" "11" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(=)" "22" "Cadherin 7 (672-784)" "0000376303" "00000016" "35" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "11" "Cadherin 4 (349-460)" "0000376304" "00000016" "35" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "11" "Cadherin 4 (349-460)" "0000376305" "00000016" "35" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "11" "Cadherin 4 (349-460)" "0000376306" "00000016" "35" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "11" "Cadherin 4 (349-460)" "0000376307" "00000016" "35" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "11" "Cadherin 4 (349-460)" "0000376308" "00000016" "35" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "11" "Cadherin 4 (349-460)" "0000376309" "00000016" "35" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "11" "Cadherin 4 (349-460)" "0000376310" "00000016" "35" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "11" "Cadherin 4 (349-460)" "0000376311" "00000016" "35" "1096" "0" "1096" "0" "c.1096G>A" "r.1096g>a" "p.Ala366Thr" "11" "Cadherin 4 (349-460)" "0000376312" "00000016" "35" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "11" "Cadherin 4 (349-460)" "0000376313" "00000016" "35" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "11" "Cadherin 4 (349-460)" "0000376314" "00000016" "35" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "11" "Cadherin 4 (349-460)" "0000376315" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376316" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376317" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376318" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376319" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376320" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376321" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376322" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376323" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376324" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376325" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376326" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.366u>c" "p.=" "6" "Cadherin 1 (34-132)" "0000376327" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.366u>c" "p.=" "6" "Cadherin 1 (34-132)" "0000376328" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376329" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376330" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376331" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376332" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376333" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376334" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376335" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.366u>c" "p.=" "6" "Cadherin 1 (34-132)" "0000376336" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376337" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376338" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376339" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376340" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376341" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376342" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376343" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376344" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376345" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376346" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376347" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376348" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376349" "00000016" "11" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(=)" "6" "Cadherin 1 (34-132)" "0000376354" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376355" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376356" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376357" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376358" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376359" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376360" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376361" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376362" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376363" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376364" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376365" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.=" "p.=" "6i" "" "0000376366" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.=" "p.=" "6i" "" "0000376367" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376368" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376369" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376370" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376371" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376372" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.=" "p.=" "6i" "" "0000376373" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376374" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376375" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376376" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376377" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376378" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376379" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376380" "00000016" "11" "429" "26" "429" "26" "c.429+26A>G" "r.(=)" "p.(=)" "6i" "" "0000376385" "00000016" "99" "5985" "0" "5985" "0" "c.5985C>A" "r.5985c>a" "p.Tyr1995*" "46" "Cadherin 19 (1960-2069)" "0000376386" "00000016" "15" "2424" "0" "2424" "0" "c.2424G>A" "r.2424g>a" "p.=" "23" "Cadherin 8 (779-890)" "0000376391" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "15" "Cadherin 5 (461-561)" "0000376392" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "15" "Cadherin 5 (461-561)" "0000376393" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "15" "Cadherin 5 (461-561)" "0000376394" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.1469g>c" "p.Gly490Ala" "15" "Cadherin 5 (461-561)" "0000376395" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.1469g>c" "p.Gly490Ala" "15" "Cadherin 5 (461-561)" "0000376396" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "15" "Cadherin 5 (461-561)" "0000376397" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "15" "Cadherin 5 (461-561)" "0000376398" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "15" "Cadherin 5 (461-561)" "0000376399" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "15" "Cadherin 5 (461-561)" "0000376400" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "15" "Cadherin 5 (461-561)" "0000376401" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "15" "Cadherin 5 (461-561)" "0000376402" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "15" "Cadherin 5 (461-561)" "0000376403" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "15" "Cadherin 5 (461-561)" "0000376404" "00000016" "11" "1469" "0" "1469" "0" "c.1469G>C" "r.(?)" "p.(Gly490Ala)" "15" "Cadherin 5 (461-561)" "0000376405" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376406" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376407" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376408" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376409" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376410" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376411" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.=" "p.=" "6i" "" "0000376412" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376413" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.=" "p.=" "6i" "" "0000376414" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376415" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376416" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376417" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376418" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376419" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376420" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376421" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.=" "p.=" "6i" "" "0000376422" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376423" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376424" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376425" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376426" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376427" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376428" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376429" "00000016" "15" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376430" "00000016" "15" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376431" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376432" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376433" "00000016" "11" "429" "13" "429" "13" "c.429+13G>A" "r.(=)" "p.(=)" "6i" "" "0000376438" "00000016" "99" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "46" "Cadherin 19 (1960-2069)" "0000376439" "00000016" "99" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "46" "Cadherin 19 (1960-2069)" "0000376440" "00000016" "99" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "46" "Cadherin 19 (1960-2069)" "0000376441" "00000016" "99" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "46" "Cadherin 19 (1960-2069)" "0000376442" "00000016" "99" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "46" "Cadherin 19 (1960-2069)" "0000376443" "00000016" "99" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "46" "Cadherin 19 (1960-2069)" "0000376444" "00000016" "99" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "46" "Cadherin 19 (1960-2069)" "0000376445" "00000016" "99" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "46" "Cadherin 19 (1960-2069)" "0000376446" "00000016" "99" "4309" "0" "4309" "0" "c.4309C>T" "r.(?)" "p.(Arg1437*)" "35" "Cadherin 14 (1420-1527)" "0000376447" "00000016" "99" "4309" "0" "4309" "0" "c.4309C>T" "r.(?)" "p.(Arg1437*)" "35" "Cadherin 14 (1420-1527)" "0000376448" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376449" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376450" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376451" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376452" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376453" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376454" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376455" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376456" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376457" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376458" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376459" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.=" "p.=" "36i" "" "0000376460" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376461" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376462" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376463" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376464" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376465" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376466" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376467" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376468" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376469" "00000016" "11" "4488" "32" "4488" "32" "c.4488+32C>G" "r.(=)" "p.(=)" "36i" "" "0000376478" "00000016" "11" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Ser496Asn)" "15" "Cadherin 5 (461-561)" "0000376479" "00000016" "11" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Ser496Asn)" "15" "Cadherin 5 (461-561)" "0000376480" "00000016" "11" "1487" "0" "1487" "0" "c.1487G>A" "r.1487g>a" "p.Ser496Asn" "15" "Cadherin 5 (461-561)" "0000376481" "00000016" "11" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Ser496Asn)" "15" "Cadherin 5 (461-561)" "0000376482" "00000016" "11" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Ser496Asn)" "15" "Cadherin 5 (461-561)" "0000376483" "00000016" "11" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Ser496Asn)" "15" "Cadherin 5 (461-561)" "0000376484" "00000016" "11" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Ser496Asn)" "15" "Cadherin 5 (461-561)" "0000376485" "00000016" "11" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Ser496Asn)" "15" "Cadherin 5 (461-561)" "0000376486" "00000016" "11" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Ser496Asn)" "15" "Cadherin 5 (461-561)" "0000376487" "00000016" "11" "624" "64" "624" "64" "c.624+64C>T" "r.(=)" "p.(=)" "7i" "" "0000376488" "00000016" "11" "624" "64" "624" "64" "c.624+64C>T" "r.(=)" "p.(=)" "7i" "" "0000376489" "00000016" "11" "624" "64" "624" "64" "c.624+64C>T" "r.(=)" "p.(=)" "7i" "" "0000376490" "00000016" "11" "624" "64" "624" "64" "c.624+64C>T" "r.(=)" "p.(=)" "7i" "" "0000376491" "00000016" "11" "624" "64" "624" "64" "c.624+64C>T" "r.(=)" "p.(=)" "7i" "" "0000376492" "00000016" "11" "624" "64" "624" "64" "c.624+64C>T" "r.(=)" "p.(=)" "7i" "" "0000376493" "00000016" "11" "624" "64" "624" "64" "c.624+64C>T" "r.(=)" "p.(=)" "7i" "" "0000376494" "00000016" "11" "624" "64" "624" "64" "c.624+64C>T" "r.(=)" "p.(=)" "7i" "" "0000376495" "00000016" "11" "624" "64" "624" "64" "c.624+64C>T" "r.(=)" "p.(=)" "7i" "" "0000376496" "00000016" "11" "624" "64" "624" "64" "c.624+64C>T" "r.(=)" "p.(=)" "7i" "" "0000376497" "00000016" "11" "624" "64" "624" "64" "c.624+64C>T" "r.(=)" "p.(=)" "7i" "" "0000376501" "00000016" "11" "68" "-88" "68" "-88" "c.68-88C>A" "r.(=)" "p.(=)" "2i" "" "0000376502" "00000016" "11" "68" "-88" "68" "-88" "c.68-88C>A" "r.(=)" "p.(=)" "2i" "" "0000376503" "00000016" "99" "8064" "2" "8064" "2" "c.8064+2T>C" "r.(?)" "p.(?)" "56i" "" "0000376504" "00000016" "99" "6307" "0" "6307" "0" "c.6307G>T" "r.(?)" "p.(Glu2103*)" "48" "Cadherin 20 (2070-2174)" "0000376505" "00000016" "99" "6307" "0" "6307" "0" "c.6307G>T" "r.(?)" "p.(Glu2103*)" "48" "Cadherin 20 (2070-2174)" "0000376506" "00000016" "99" "6307" "0" "6307" "0" "c.6307G>T" "r.(?)" "p.(Glu2103*)" "48" "Cadherin 20 (2070-2174)" "0000376507" "00000016" "99" "6146" "0" "6153" "0" "c.6146_6153del" "r.(?)" "p.(Leu2049Hisfs*11)" "47" "Cadherin 19 (1960-2069)" "0000376508" "00000016" "11" "5923" "67" "5923" "67" "c.5923+67G>A" "r.(=)" "p.(=)" "45i" "" "0000376517" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376518" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376519" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376520" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376521" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376522" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376523" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376524" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376525" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376526" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376527" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376528" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376529" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376530" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376531" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376532" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376533" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376534" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376535" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376536" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376537" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376538" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376539" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376540" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376541" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376542" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376543" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376544" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376545" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376546" "00000016" "11" "4723" "0" "4723" "0" "c.4723G>A" "r.(?)" "p.(Ala1575Thr)" "38" "Cadherin 15 (1529-1634)" "0000376547" "00000016" "11" "4359" "11" "4359" "11" "c.4359+11G>A" "r.(=)" "p.(=)" "35i" "" "0000376548" "00000016" "11" "2958" "0" "2958" "0" "c.2958G>A" "r.(?)" "p.(=)" "26" "Cadherin 9 (891-995)" "0000376549" "00000016" "99" "1987" "-2" "1987" "-2" "c.1987-2A>C" "r.(?)" "p.(?)" "18i" "" "0000376550" "00000016" "11" "2059" "79" "2059" "79" "c.2059+79C>T" "r.(=)" "p.(=)" "19i" "" "0000376551" "00000016" "11" "2059" "79" "2059" "79" "c.2059+79C>T" "r.(=)" "p.(=)" "19i" "" "0000376552" "00000016" "11" "2059" "79" "2059" "79" "c.2059+79C>T" "r.(=)" "p.(=)" "19i" "" "0000376553" "00000016" "11" "2059" "79" "2059" "79" "c.2059+79C>T" "r.(=)" "p.(=)" "19i" "" "0000376554" "00000016" "11" "2059" "79" "2059" "79" "c.2059+79C>T" "r.(=)" "p.(=)" "19i" "" "0000376555" "00000016" "11" "2059" "79" "2059" "79" "c.2059+79C>T" "r.(=)" "p.(=)" "19i" "" "0000376556" "00000016" "11" "2059" "79" "2059" "79" "c.2059+79C>T" "r.(=)" "p.(=)" "19i" "" "0000376557" "00000016" "11" "3220" "26" "3220" "26" "c.3220+26A>G" "r.(=)" "p.(=)" "27i" "" "0000376558" "00000016" "11" "3220" "26" "3220" "26" "c.3220+26A>G" "r.(=)" "p.(=)" "27i" "" "0000376559" "00000016" "99" "3220" "0" "3220" "0" "c.3220G>A" "r.(?)" "p.(Asp1074Asn)" "27" "Cadherin 10 (996-1102)" "0000376560" "00000016" "99" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Trp22*)" "2" "Signal peptide (1-23)" "0000376561" "00000016" "99" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Trp22*)" "2" "Signal peptide (1-23)" "0000376562" "00000016" "99" "7660" "0" "7660" "0" "c.7660G>T" "r.(?)" "p.(Glu2554*)" "54" "Cadherin 24 (2510-2611)" "0000376563" "00000016" "75" "739" "0" "739" "0" "c.739G>A" "r.(?)" "p.(Glu247Lys)" "8" "Cadherin 3 (237-348)" "0000376564" "00000016" "11" "625" "-93" "625" "-93" "c.625-93G>A" "r.(=)" "p.(=)" "7i" "" "0000376567" "00000016" "99" "3481" "0" "3481" "0" "c.3481C>T" "r.(?)" "p.(Arg1161*)" "30" "Cadherin 11 (1103-1208)" "0000376568" "00000016" "99" "3481" "0" "3481" "0" "c.3481C>T" "r.(?)" "p.(Arg1161*)" "30" "Cadherin 11 (1103-1208)" "0000376569" "00000016" "11" "8979" "83" "8979" "83" "c.8979+83T>C" "r.(=)" "p.(=)" "61i" "" "0000376570" "00000016" "99" "5821" "-2" "5821" "-2" "c.5821-2A>G" "r.(?)" "p.(?)" "44i" "" "0000376571" "00000016" "99" "5821" "-2" "5821" "-2" "c.5821-2A>G" "r.(?)" "p.(?)" "44i" "" "0000376574" "00000016" "11" "5023" "0" "5023" "0" "c.5023G>A" "r.(?)" "p.(Val1675Ile)" "39" "Cadherin 16 (1635-1744)" "0000376575" "00000016" "11" "5023" "0" "5023" "0" "c.5023G>A" "r.(?)" "p.(Val1675Ile)" "39" "Cadherin 16 (1635-1744)" "0000376576" "00000016" "15" "5023" "0" "5023" "0" "c.5023G>A" "r.(?)" "p.(Val1675Ile)" "39" "Cadherin 16 (1635-1744)" "0000376577" "00000016" "11" "5023" "0" "5023" "0" "c.5023G>A" "r.(?)" "p.(Val1675Ile)" "39" "Cadherin 16 (1635-1744)" "0000376578" "00000016" "11" "4359" "32" "4359" "32" "c.4359+32C>G" "r.(=)" "p.(=)" "35i" "" "0000376579" "00000016" "11" "4359" "32" "4359" "32" "c.4359+32C>G" "r.(=)" "p.(=)" "35i" "" "0000376580" "00000016" "11" "4207" "-18" "4207" "-18" "c.4207-18T>C" "r.(=)" "p.(=)" "33i" "" "0000376581" "00000016" "11" "4207" "-18" "4207" "-18" "c.4207-18T>C" "r.(=)" "p.(=)" "33i" "" "0000376582" "00000016" "11" "4207" "-18" "4207" "-18" "c.4207-18T>C" "r.(=)" "p.(=)" "33i" "" "0000376583" "00000016" "11" "4207" "-18" "4207" "-18" "c.4207-18T>C" "r.(=)" "p.(=)" "33i" "" "0000376584" "00000016" "99" "3713" "0" "3714" "0" "c.3713_3714del" "r.(?)" "p.(Ser1238Trpfs*19)" "31" "Cadherin 12 (1210-1313)" "0000376585" "00000016" "11" "9320" "-34" "9320" "-34" "c.9320-34C>T" "r.(=)" "p.(=)" "65i" "" "0000376586" "00000016" "11" "9320" "-34" "9320" "-34" "c.9320-34C>T" "r.(=)" "p.(=)" "65i" "" "0000376587" "00000016" "11" "9320" "-34" "9320" "-34" "c.9320-34C>T" "r.(=)" "p.(=)" "65i" "" "0000376588" "00000016" "11" "9320" "-34" "9320" "-34" "c.9320-34C>T" "r.(=)" "p.(=)" "65i" "" "0000376589" "00000016" "11" "9320" "-34" "9320" "-34" "c.9320-34C>T" "r.(=)" "p.(=)" "65i" "" "0000376590" "00000016" "11" "9320" "-34" "9320" "-34" "c.9320-34C>T" "r.(=)" "p.(=)" "65i" "" "0000376591" "00000016" "11" "5503" "-10" "5503" "-10" "c.5503-10A>G" "r.(=)" "p.(=)" "42i" "" "0000376592" "00000016" "11" "5503" "-10" "5503" "-10" "c.5503-10A>G" "r.=" "p.=" "42i" "" "0000376593" "00000016" "11" "5503" "-10" "5503" "-10" "c.5503-10A>G" "r.(=)" "p.(=)" "42i" "" "0000376594" "00000016" "11" "5503" "-10" "5503" "-10" "c.5503-10A>G" "r.(=)" "p.(=)" "42i" "" "0000376595" "00000016" "11" "5503" "-10" "5503" "-10" "c.5503-10A>G" "r.(=)" "p.(=)" "42i" "" "0000376596" "00000016" "11" "5503" "-10" "5503" "-10" "c.5503-10A>G" "r.(=)" "p.(=)" "42i" "" "0000376597" "00000016" "11" "5503" "-10" "5503" "-10" "c.5503-10A>G" "r.(=)" "p.(=)" "42i" "" "0000376598" "00000016" "11" "5503" "-10" "5503" "-10" "c.5503-10A>G" "r.(=)" "p.(=)" "42i" "" "0000376599" "00000016" "11" "5503" "-10" "5503" "-10" "c.5503-10A>G" "r.(=)" "p.(=)" "42i" "" "0000376600" "00000016" "11" "5503" "-44" "5503" "-44" "c.5503-44T>C" "r.(=)" "p.(=)" "42i" "" "0000376601" "00000016" "11" "5503" "-44" "5503" "-44" "c.5503-44T>C" "r.(=)" "p.(=)" "42i" "" "0000376602" "00000016" "11" "3106" "36" "3106" "36" "c.3106+36C>A" "r.(=)" "p.(=)" "26i" "" "0000376603" "00000016" "35" "2239" "0" "2239" "0" "c.2239C>T" "r.(?)" "p.(Arg747Cys)" "21" "Cadherin 7 (672-784)" "0000376604" "00000016" "11" "1753" "-43" "1753" "-43" "c.1753-43T>C" "r.(=)" "p.(=)" "16i" "" "0000376605" "00000016" "11" "430" "-23" "430" "-23" "c.430-23A>C" "r.(=)" "p.(=)" "6i" "" "0000376606" "00000016" "75" "427" "0" "427" "0" "c.427G>C" "r.(?)" "p.(?)" "6" "Cadherin 2 (133-236)" "0000376607" "00000016" "11" "336" "26" "336" "26" "c.336+26G>C" "r.(=)" "p.(=)" "5i" "" "0000376608" "00000016" "99" "272" "0" "272" "0" "c.272del" "r.(?)" "p.(Gln91Argfs*23)" "4" "Cadherin 1 (34-132)" "0000376609" "00000016" "11" "9978" "0" "9978" "0" "c.9978C>T" "r.(?)" "p.(=)" "70" "Cytoplasmic (3086-3354)" "0000376610" "00000016" "11" "9978" "0" "9978" "0" "c.9978C>T" "r.(?)" "p.(=)" "70" "Cytoplasmic (3086-3354)" "0000376611" "00000016" "11" "9510" "19" "9510" "25" "c.9510+19_9510+25del" "r.(=)" "p.(=)" "67i" "" "0000376612" "00000016" "11" "9510" "19" "9510" "25" "c.9510+19_9510+25del" "r.(=)" "p.(=)" "67i" "" "0000376613" "00000016" "11" "6492" "0" "6492" "0" "c.6492C>T" "r.(?)" "p.(=)" "48" "Cadherin 20 (2070-2174)" "0000376614" "00000016" "11" "6492" "0" "6492" "0" "c.6492C>T" "r.(?)" "p.(=)" "48" "Cadherin 20 (2070-2174)" "0000376615" "00000016" "11" "6249" "0" "6249" "0" "c.6249G>A" "r.(?)" "p.(=)" "47" "Cadherin 20 (2070-2174)" "0000376616" "00000016" "11" "6249" "0" "6249" "0" "c.6249G>A" "r.(?)" "p.(=)" "47" "Cadherin 20 (2070-2174)" "0000376617" "00000016" "11" "5188" "-57" "5188" "-57" "c.5188-57G>A" "r.(=)" "p.(=)" "40i" "" "0000376618" "00000016" "11" "5188" "-57" "5188" "-57" "c.5188-57G>A" "r.(=)" "p.(=)" "40i" "" "0000376619" "00000016" "11" "4617" "42" "4617" "42" "c.4617+42G>T" "r.(=)" "p.(=)" "37i" "" "0000376620" "00000016" "11" "4617" "42" "4617" "42" "c.4617+42G>T" "r.(=)" "p.(=)" "37i" "" "0000376621" "00000016" "11" "4509" "0" "4509" "0" "c.4509C>T" "r.(?)" "p.(=)" "37" "Cadherin 14 (1420-1527)" "0000376622" "00000016" "11" "4509" "0" "4509" "0" "c.4509C>T" "r.(?)" "p.(=)" "37" "Cadherin 14 (1420-1527)" "0000376623" "00000016" "11" "3580" "-12" "3580" "-12" "c.3580-12C>T" "r.(=)" "p.(=)" "30i" "" "0000376624" "00000016" "11" "3580" "-12" "3580" "-12" "c.3580-12C>T" "r.(=)" "p.(=)" "30i" "" "0000376627" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376628" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376629" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376630" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376631" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376632" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376633" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376634" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376635" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376636" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376637" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376638" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376639" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376640" "00000016" "35" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "31" "" "0000376641" "00000016" "99" "2587" "1" "2587" "1" "c.2587+1G>A" "r.(?)" "p.(?)" "23i" "" "0000376642" "00000016" "99" "2587" "1" "2587" "1" "c.2587+1G>A" "r.(?)" "p.(?)" "23i" "" "0000376643" "00000016" "11" "1858" "79" "1858" "79" "c.1858+79A>G" "r.(=)" "p.(=)" "17i" "" "0000376644" "00000016" "11" "1858" "79" "1858" "79" "c.1858+79A>G" "r.(=)" "p.(=)" "17i" "" "0000376645" "00000016" "11" "1858" "79" "1858" "79" "c.1858+79A>G" "r.(=)" "p.(=)" "17i" "" "0000376646" "00000016" "11" "1858" "79" "1858" "79" "c.1858+79A>G" "r.(=)" "p.(=)" "17i" "" "0000376649" "00000016" "11" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Cys)" "2" "Signal peptide (1-23)" "0000376650" "00000016" "11" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Cys)" "2" "Signal peptide (1-23)" "0000376651" "00000016" "99" "3580" "-1" "3580" "-1" "c.3580-1G>T" "r.[3580_3715del, 3580_3630del]" "p.[Asp1240Glyfs*6, Val1194_Gln1210del]" "30i" "Cadherin 11 (1103-1208);Cadherin 12 (1210-1313);Cadherin 11;Cadherin 12" "0000376652" "00000016" "99" "3367" "0" "3367" "0" "c.3367C>T" "r.3367c>t" "p.Gln1123*" "28" "Cadherin 11 (1103-1208)" "0000376653" "00000016" "99" "3367" "0" "3367" "0" "c.3367C>T" "r.3367c>t" "p.Gln1123*" "28" "Cadherin 11 (1103-1208)" "0000376654" "00000016" "99" "3367" "0" "3367" "0" "c.3367C>T" "r.(?)" "p.(Gln1123*)" "28" "Cadherin 11 (1103-1208)" "0000376655" "00000016" "11" "9873" "0" "9873" "0" "c.9873G>A" "r.9873g>a" "p.=" "70" "Cytoplasmic (3086-3354)" "0000376656" "00000016" "11" "9873" "0" "9873" "0" "c.9873G>A" "r.9873g>a" "p.=" "70" "Cytoplasmic (3086-3354)" "0000376657" "00000016" "11" "9873" "0" "9873" "0" "c.9873G>A" "r.(?)" "p.(=)" "70" "Cytoplasmic (3086-3354)" "0000376658" "00000016" "11" "9873" "0" "9873" "0" "c.9873G>A" "r.(?)" "p.(=)" "70" "Cytoplasmic (3086-3354)" "0000376659" "00000016" "11" "9373" "0" "9373" "0" "c.9373T>C" "r.9373u>c" "p.Phe3125Leu" "66" "Cytoplasmic (3086-3354)" "0000376660" "00000016" "11" "9373" "0" "9373" "0" "c.9373T>C" "r.9373u>c" "p.Phe3125Leu" "66" "Cytoplasmic (3086-3354)" "0000376661" "00000016" "11" "9373" "0" "9373" "0" "c.9373T>C" "r.(?)" "p.(Phe3125Leu)" "66" "Cytoplasmic (3086-3354)" "0000376662" "00000016" "11" "9373" "0" "9373" "0" "c.9373T>C" "r.(?)" "p.(Phe3125Leu)" "66" "Cytoplasmic (3086-3354)" "0000376663" "00000016" "11" "9373" "0" "9373" "0" "c.9373T>C" "r.(?)" "p.(Phe3125Leu)" "66" "Cytoplasmic (3086-3354)" "0000376664" "00000016" "11" "9373" "0" "9373" "0" "c.9373T>C" "r.(?)" "p.(Phe3125Leu)" "66" "Cytoplasmic (3086-3354)" "0000376665" "00000016" "11" "9320" "-93" "9320" "-93" "c.9320-93C>G" "r.=" "p.=" "65i" "" "0000376666" "00000016" "11" "9320" "-93" "9320" "-93" "c.9320-93C>G" "r.=" "p.=" "65i" "" "0000376667" "00000016" "11" "9320" "-93" "9320" "-93" "c.9320-93C>G" "r.(=)" "p.(=)" "65i" "" "0000376668" "00000016" "11" "9320" "-93" "9320" "-93" "c.9320-93C>G" "r.(=)" "p.(=)" "65i" "" "0000376669" "00000016" "11" "9320" "-93" "9320" "-93" "c.9320-93C>G" "r.(=)" "p.(=)" "65i" "" "0000376670" "00000016" "11" "8907" "0" "8907" "0" "c.8907C>T" "r.8907c>u" "p.=" "61" "Cadherin 27 (2847-2975)" "0000376671" "00000016" "11" "7225" "-22" "7225" "-22" "c.7225-22C>T" "r.=" "p.=" "51i" "" "0000376672" "00000016" "11" "5187" "73" "5187" "73" "c.5187+73C>T" "r.=" "p.=" "40i" "" "0000376673" "00000016" "11" "5187" "73" "5187" "73" "c.5187+73C>T" "r.(=)" "p.(=)" "40i" "" "0000376674" "00000016" "11" "5187" "73" "5187" "73" "c.5187+73C>T" "r.(=)" "p.(=)" "40i" "" "0000376675" "00000016" "11" "2060" "-79" "2060" "-79" "c.2060-79C>T" "r.=" "p.=" "19i" "" "0000376676" "00000016" "95" "7872" "0" "7872" "0" "c.7872G>A" "r.[(7872g>a; 7872_7873ins7872+1_7872+86)]" "p.[(=; Glu2625Valfs*30)]" "55" "Cadherin 25 (2614-2722)" "0000376677" "00000016" "95" "7872" "0" "7872" "0" "c.7872G>A" "r.[7872g>a; 7872_7873ins7872+1_7872+86]" "p.[=; Glu2625Valfs*30]" "55" "Cadherin 25 (2614-2722)" "0000376678" "00000016" "95" "7872" "0" "7872" "0" "c.7872G>A" "r.[(7872g>a; 7872_7873ins7872+1_7872+86)]" "p.[(=; Glu2625Valfs*30)]" "55" "Cadherin 25 (2614-2722)" "0000376679" "00000016" "95" "7872" "0" "7872" "0" "c.7872G>A" "r.[(7872g>a; 7872_7873ins7872+1_7872+86)]" "p.[(=; Glu2625Valfs*30)]" "55" "Cadherin 25 (2614-2722)" "0000376680" "00000016" "99" "7026" "0" "7026" "0" "c.7026del" "r.(?)" "p.(Tyr2343Metfs*30)" "50" "Cadherin 22 (2297-2402)" "0000376681" "00000016" "11" "1515" "-44" "1515" "-44" "c.1515-44T>G" "r.(=)" "p.(=)" "15i" "" "0000376682" "00000016" "11" "146" "-60" "146" "-60" "c.146-60C>A" "r.(=)" "p.(=)" "3i" "" "0000376683" "00000016" "11" "146" "-60" "146" "-60" "c.146-60C>A" "r.(=)" "p.(=)" "3i" "" "0000376684" "00000016" "11" "146" "-60" "146" "-60" "c.146-60C>A" "r.(=)" "p.(=)" "3i" "" "0000376685" "00000016" "11" "146" "-60" "146" "-60" "c.146-60C>A" "r.(=)" "p.(=)" "3i" "" "0000376686" "00000016" "11" "146" "-60" "146" "-60" "c.146-60C>A" "r.(=)" "p.(=)" "3i" "" "0000376687" "00000016" "11" "146" "-60" "146" "-60" "c.146-60C>A" "r.(=)" "p.(=)" "3i" "" "0000376688" "00000016" "11" "146" "-60" "146" "-60" "c.146-60C>A" "r.(=)" "p.(=)" "3i" "" "0000376689" "00000016" "11" "146" "-60" "146" "-60" "c.146-60C>A" "r.(=)" "p.(=)" "3i" "" "0000376690" "00000016" "11" "146" "-60" "146" "-60" "c.146-60C>A" "r.(=)" "p.(=)" "3i" "" "0000376691" "00000016" "11" "146" "-60" "146" "-60" "c.146-60C>A" "r.(=)" "p.(=)" "3i" "" "0000376696" "00000016" "99" "6337" "0" "6337" "0" "c.6337C>T" "r.(?)" "p.(Gln2113*)" "48" "Cadherin 20 (2070-2174)" "0000376697" "00000016" "99" "6337" "0" "6337" "0" "c.6337C>T" "r.(?)" "p.(Gln2113*)" "48" "Cadherin 20 (2070-2174)" "0000376698" "00000016" "99" "6337" "0" "6337" "0" "c.6337C>T" "r.(?)" "p.(Gln2113*)" "48" "Cadherin 20 (2070-2174)" "0000376699" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376700" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376701" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376702" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376703" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376704" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376705" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376706" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376707" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376708" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376709" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376710" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376711" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376712" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376713" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376714" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376715" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376716" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376717" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376718" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376719" "00000016" "99" "336" "1" "336" "1" "c.336+1G>A" "r.(?)" "p.(?)" "5i" "" "0000376720" "00000016" "75" "7127" "0" "7127" "0" "c.7127A>T" "r.(?)" "p.(Asp2376Val)" "51" "Cadherin 22 (2297-2402)" "0000376721" "00000016" "75" "7127" "0" "7127" "0" "c.7127A>T" "r.(?)" "p.(Asp2376Val)" "51" "Cadherin 22 (2297-2402)" "0000376722" "00000016" "35" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "21" "Cadherin 7 (672-784)" "0000376723" "00000016" "35" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "21" "Cadherin 7 (672-784)" "0000376724" "00000016" "35" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "21" "Cadherin 7 (672-784)" "0000376725" "00000016" "35" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "21" "Cadherin 7 (672-784)" "0000376726" "00000016" "75" "7589" "0" "7589" "0" "c.7589C>T" "r.(?)" "p.(Thr2530Ile)" "54" "Cadherin 24 (2510-2611)" "0000376727" "00000016" "75" "5788" "0" "5788" "0" "c.5788G>A" "r.(?)" "p.(Asp1930Asn)" "44" "Cadherin 18 (1852-1959)" "0000376728" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376729" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376730" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376731" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376732" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376733" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376734" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376735" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376736" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376737" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376738" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376739" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376740" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376741" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376742" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376743" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376744" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376745" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376746" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376747" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376748" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376749" "00000016" "99" "2289" "1" "2289" "1" "c.2289+1G>A" "r.spl" "p.?" "21i" "" "0000376752" "00000016" "99" "6393" "0" "6393" "0" "c.6393del" "r.(?)" "p.(Ile2132Serfs*11)" "48" "Cadherin 20 (2070-2174)" "0000376753" "00000016" "99" "6346" "0" "6347" "0" "c.6346_6347del" "r.(?)" "p.(Phe2116Profs*13)" "48" "Cadherin 20 (2070-2174)" "0000376754" "00000016" "99" "6346" "0" "6347" "0" "c.6346_6347del" "r.(?)" "p.(Phe2116Profs*13)" "48" "Cadherin 20 (2070-2174)" "0000376755" "00000016" "75" "5734" "0" "5734" "0" "c.5734C>T" "r.(?)" "p.(Arg1912Trp)" "44" "Cadherin 18 (1852-1959)" "0000376756" "00000016" "75" "8903" "0" "8903" "0" "c.8903T>C" "r.(?)" "p.(Val2968Ala)" "61" "Cadherin 27 (2847-2975)" "0000376757" "00000016" "99" "8722" "1" "8722" "1" "c.8722+1del" "r.spl?" "p.?" "60i" "" "0000376758" "00000016" "99" "8722" "1" "8722" "1" "c.8722+1del" "r.spl?" "p.?" "60i" "" "0000376759" "00000016" "99" "8722" "1" "8722" "1" "c.8722+1del" "r.spl?" "p.?" "60i" "" "0000376760" "00000016" "99" "6511" "0" "6511" "0" "c.6511del" "r.(?)" "p.(Arg2171Alafs*11)" "48" "Cadherin 20 (2070-2174)" "0000376761" "00000016" "75" "5363" "0" "5363" "0" "c.5363C>T" "r.(?)" "p.(Pro1788Leu)" "41" "Cadherin 17 (1745-1851)" "0000376762" "00000016" "75" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Gly2771Ser)" "59" "Cadherin 26 (2729-2846)" "0000376763" "00000016" "75" "3268" "0" "3268" "0" "c.3268G>A" "r.(?)" "p.(Val1090Ile)" "28" "Cadherin 10 (996-1102)" "0000376764" "00000016" "75" "3268" "0" "3268" "0" "c.3268G>A" "r.(?)" "p.(Val1090Ile)" "28" "Cadherin 10 (996-1102)" "0000376765" "00000016" "75" "6085" "0" "6085" "0" "c.6085C>T" "r.(?)" "p.(Arg2029Trp)" "47" "Cadherin 19 (1960-2069)" "0000376766" "00000016" "75" "6085" "0" "6085" "0" "c.6085C>T" "r.(?)" "p.(Arg2029Trp)" "47" "Cadherin 19 (1960-2069)" "0000376767" "00000016" "75" "6085" "0" "6085" "0" "c.6085C>T" "r.(?)" "p.(Arg2029Trp)" "47" "Cadherin 19 (1960-2069)" "0000376768" "00000016" "75" "6085" "0" "6085" "0" "c.6085C>T" "r.(?)" "p.(Arg2029Trp)" "47" "Cadherin 19 (1960-2069)" "0000376769" "00000016" "75" "6085" "0" "6085" "0" "c.6085C>T" "r.(?)" "p.(Arg2029Trp)" "47" "Cadherin 19 (1960-2069)" "0000376770" "00000016" "75" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "10" "Cadherin 3 (237-348)" "0000376771" "00000016" "75" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "10" "Cadherin 3 (237-348)" "0000376772" "00000016" "75" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "10" "Cadherin 3 (237-348)" "0000376773" "00000016" "75" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "10" "Cadherin 3 (237-348)" "0000376774" "00000016" "75" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "10" "Cadherin 3 (237-348)" "0000376775" "00000016" "75" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "10" "Cadherin 3 (237-348)" "0000376776" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376777" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376778" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376779" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376780" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376781" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376782" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376783" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376784" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376785" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376786" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376787" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376788" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376789" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376790" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376791" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376792" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376793" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376794" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376795" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376796" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376797" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376798" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376799" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376800" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376801" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376802" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376803" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376804" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376805" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376806" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376807" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376808" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376809" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376810" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376811" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376812" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376813" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376814" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376815" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376816" "00000016" "75" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "Cadherin 3 (237-348)" "0000376817" "00000016" "75" "5147" "0" "5147" "0" "c.5147A>C" "r.(?)" "p.(Gln1716Pro)" "40" "Cadherin 16 (1635-1744)" "0000376818" "00000016" "75" "5147" "0" "5147" "0" "c.5147A>C" "r.(?)" "p.(Gln1716Pro)" "40" "Cadherin 16 (1635-1744)" "0000376819" "00000016" "75" "5147" "0" "5147" "0" "c.5147A>C" "r.(?)" "p.(Gln1716Pro)" "40" "Cadherin 16 (1635-1744)" "0000376820" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376821" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376822" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376823" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376824" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376825" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376826" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376827" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376828" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376829" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376830" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376831" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376832" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376833" "00000016" "99" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "48" "Cadherin 20 (2070-2174)" "0000376834" "00000016" "99" "4021" "0" "4021" "0" "c.4021G>A" "r.(?)" "p.(Asp1341Asn)" "32" "Cadherin 13 (1314-1418)" "0000376835" "00000016" "99" "4021" "0" "4021" "0" "c.4021G>A" "r.(?)" "p.(Asp1341Asn)" "32" "Cadherin 13 (1314-1418)" "0000376836" "00000016" "99" "4021" "0" "4021" "0" "c.4021G>A" "r.(?)" "p.(Asp1341Asn)" "32" "Cadherin 13 (1314-1418)" "0000376837" "00000016" "99" "4021" "0" "4021" "0" "c.4021G>A" "r.(?)" "p.(Asp1341Asn)" "32" "Cadherin 13 (1314-1418)" "0000376838" "00000016" "99" "4021" "0" "4021" "0" "c.4021G>A" "r.(?)" "p.(Asp1341Asn)" "32" "Cadherin 13 (1314-1418)" "0000376839" "00000016" "99" "4021" "0" "4021" "0" "c.4021G>A" "r.(?)" "p.(Asp1341Asn)" "32" "Cadherin 13 (1314-1418)" "0000376840" "00000016" "99" "1450" "0" "1450" "0" "c.1450G>C" "r.(?)" "p.(Ala484Pro)" "15" "Cadherin 5 (461-561)" "0000376841" "00000016" "99" "1450" "0" "1450" "0" "c.1450G>C" "r.(?)" "p.(Ala484Pro)" "15" "Cadherin 5 (461-561)" "0000376842" "00000016" "99" "1450" "0" "1450" "0" "c.1450G>C" "r.(?)" "p.(Ala484Pro)" "15" "Cadherin 5 (461-561)" "0000376843" "00000016" "99" "1450" "0" "1450" "0" "c.1450G>C" "r.(?)" "p.(Ala484Pro)" "15" "Cadherin 5 (461-561)" "0000376844" "00000016" "99" "1450" "0" "1450" "0" "c.1450G>C" "r.(?)" "p.(Ala484Pro)" "15" "Cadherin 5 (461-561)" "0000376845" "00000016" "99" "6393" "0" "6393" "0" "c.6393del" "r.(?)" "p.(Ile2132Serfs*11)" "48" "Cadherin 20 (2070-2174)" "0000376846" "00000016" "99" "6393" "0" "6393" "0" "c.6393del" "r.(?)" "p.(Ile2132Serfs*11)" "48" "Cadherin 20 (2070-2174)" "0000376847" "00000016" "99" "6393" "0" "6393" "0" "c.6393del" "r.(?)" "p.(Ile2132Serfs*11)" "48" "Cadherin 20 (2070-2174)" "0000376848" "00000016" "99" "6393" "0" "6393" "0" "c.6393del" "r.(?)" "p.(Ile2132Serfs*11)" "48" "Cadherin 20 (2070-2174)" "0000376849" "00000016" "75" "7823" "0" "7823" "0" "c.7823G>A" "r.(?)" "p.(Arg2608His)" "55" "Cadherin 24 (2510-2611)" "0000376850" "00000016" "75" "7823" "0" "7823" "0" "c.7823G>A" "r.(?)" "p.(Arg2608His)" "55" "Cadherin 24 (2510-2611)" "0000376851" "00000016" "75" "7823" "0" "7823" "0" "c.7823G>A" "r.(?)" "p.(Arg2608His)" "55" "Cadherin 24 (2510-2611)" "0000376852" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376853" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376854" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376855" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376856" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376857" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376858" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376859" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376860" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376861" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376862" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376863" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376864" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376865" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376866" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376867" "00000016" "99" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107*)" "48" "Cadherin 20 (2070-2174)" "0000376868" "00000016" "99" "3880" "0" "3880" "0" "c.3880C>T" "r.(?)" "p.(Gln1294*)" "32" "Cadherin 12 (1210-1313)" "0000376869" "00000016" "99" "3880" "0" "3880" "0" "c.3880C>T" "r.(?)" "p.(Gln1294*)" "32" "Cadherin 12 (1210-1313)" "0000376870" "00000016" "99" "3880" "0" "3880" "0" "c.3880C>T" "r.(?)" "p.(Gln1294*)" "32" "Cadherin 12 (1210-1313)" "0000376871" "00000016" "99" "3880" "0" "3880" "0" "c.3880C>T" "r.(?)" "p.(Gln1294*)" "32" "Cadherin 12 (1210-1313)" "0000376872" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376873" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376874" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376875" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376876" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376877" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376878" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376879" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376880" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376881" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376882" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376883" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376884" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376885" "00000016" "99" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "48" "Cadherin 21 (2175-2293)" "0000376886" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376887" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376888" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376889" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376890" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376891" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376892" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376893" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376894" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376895" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376896" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376897" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376898" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376899" "00000016" "99" "9510" "1" "9510" "1" "c.9510+1G>A" "r.spl" "p.?" "67i" "" "0000376900" "00000016" "99" "6049" "1" "6049" "1" "c.6049+1G>A" "r.spl" "p.?" "46i" "" "0000376901" "00000016" "99" "6049" "1" "6049" "1" "c.6049+1G>A" "r.spl" "p.?" "46i" "" "0000376902" "00000016" "99" "6049" "1" "6049" "1" "c.6049+1G>A" "r.spl" "p.?" "46i" "" "0000376903" "00000016" "99" "6049" "1" "6049" "1" "c.6049+1G>A" "r.spl" "p.?" "46i" "" "0000376904" "00000016" "99" "6049" "1" "6049" "1" "c.6049+1G>A" "r.spl" "p.?" "46i" "" "0000376905" "00000016" "99" "6049" "1" "6049" "1" "c.6049+1G>A" "r.spl" "p.?" "46i" "" "0000376906" "00000016" "99" "6049" "1" "6049" "1" "c.6049+1G>A" "r.spl" "p.?" "46i" "" "0000376907" "00000016" "99" "6049" "1" "6049" "1" "c.6049+1G>A" "r.spl" "p.?" "46i" "" "0000376908" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376909" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376910" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376911" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376912" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376913" "00000016" "99" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376914" "00000016" "99" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376915" "00000016" "99" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376916" "00000016" "99" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376917" "00000016" "99" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376918" "00000016" "95" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376919" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376920" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376921" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376922" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376923" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376924" "00000016" "95" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376925" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376926" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376927" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376928" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376929" "00000016" "75" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "47" "Cadherin 19 (1960-2069)" "0000376930" "00000016" "99" "9175" "0" "9175" "0" "c.9175C>A" "r.(?)" "p.(Pro3059Thr)" "63" "" "0000376931" "00000016" "99" "9175" "0" "9175" "0" "c.9175C>A" "r.(?)" "p.(Pro3059Thr)" "63" "" "0000376932" "00000016" "99" "9175" "0" "9175" "0" "c.9175C>A" "r.(?)" "p.(Pro3059Thr)" "63" "" "0000376933" "00000016" "99" "9175" "0" "9175" "0" "c.9175C>A" "r.(?)" "p.(Pro3059Thr)" "63" "" "0000376934" "00000016" "99" "9175" "0" "9175" "0" "c.9175C>A" "r.(?)" "p.(Pro3059Thr)" "63" "" "0000376935" "00000016" "99" "9175" "0" "9175" "0" "c.9175C>A" "r.(?)" "p.(Pro3059Thr)" "63" "" "0000376936" "00000016" "99" "9175" "0" "9175" "0" "c.9175C>A" "r.(?)" "p.(Pro3059Thr)" "63" "" "0000376937" "00000016" "99" "9175" "0" "9175" "0" "c.9175C>A" "r.(?)" "p.(Pro3059Thr)" "63" "" "0000376938" "00000016" "99" "8866" "0" "8866" "0" "c.8866C>T" "r.(?)" "p.(Arg2956Cys)" "61" "Cadherin 27 (2847-2975)" "0000376939" "00000016" "99" "8866" "0" "8866" "0" "c.8866C>T" "r.(?)" "p.(Arg2956Cys)" "61" "Cadherin 27 (2847-2975)" "0000376940" "00000016" "99" "8866" "0" "8866" "0" "c.8866C>T" "r.(?)" "p.(Arg2956Cys)" "61" "Cadherin 27 (2847-2975)" "0000376941" "00000016" "99" "8866" "0" "8866" "0" "c.8866C>T" "r.(?)" "p.(Arg2956Cys)" "61" "Cadherin 27 (2847-2975)" "0000376942" "00000016" "99" "8866" "0" "8866" "0" "c.8866C>T" "r.(?)" "p.(Arg2956Cys)" "61" "Cadherin 27 (2847-2975)" "0000376943" "00000016" "99" "8866" "0" "8866" "0" "c.8866C>T" "r.(?)" "p.(Arg2956Cys)" "61" "Cadherin 27 (2847-2975)" "0000376944" "00000016" "99" "8866" "0" "8866" "0" "c.8866C>T" "r.(?)" "p.(Arg2956Cys)" "61" "Cadherin 27 (2847-2975)" "0000376945" "00000016" "99" "8866" "0" "8866" "0" "c.8866C>T" "r.(?)" "p.(Arg2956Cys)" "61" "Cadherin 27 (2847-2975)" "0000376946" "00000016" "99" "8866" "0" "8866" "0" "c.8866C>T" "r.(?)" "p.(Arg2956Cys)" "61" "Cadherin 27 (2847-2975)" "0000376947" "00000016" "99" "8866" "0" "8866" "0" "c.8866C>T" "r.(?)" "p.(Arg2956Cys)" "61" "Cadherin 27 (2847-2975)" "0000376948" "00000016" "99" "8849" "0" "8849" "0" "c.8849T>A" "r.(?)" "p.(Ile2950Asn)" "61" "Cadherin 27 (2847-2975)" "0000376949" "00000016" "99" "8849" "0" "8849" "0" "c.8849T>A" "r.(?)" "p.(Ile2950Asn)" "61" "Cadherin 27 (2847-2975)" "0000376950" "00000016" "99" "8849" "0" "8849" "0" "c.8849T>A" "r.(?)" "p.(Ile2950Asn)" "61" "Cadherin 27 (2847-2975)" "0000376951" "00000016" "99" "8849" "0" "8849" "0" "c.8849T>A" "r.(?)" "p.(Ile2950Asn)" "61" "Cadherin 27 (2847-2975)" "0000376952" "00000016" "99" "8849" "0" "8849" "0" "c.8849T>A" "r.(?)" "p.(Ile2950Asn)" "61" "Cadherin 27 (2847-2975)" "0000376953" "00000016" "99" "8849" "0" "8849" "0" "c.8849T>A" "r.(?)" "p.(Ile2950Asn)" "61" "Cadherin 27 (2847-2975)" "0000376954" "00000016" "99" "8849" "0" "8849" "0" "c.8849T>A" "r.(?)" "p.(Ile2950Asn)" "61" "Cadherin 27 (2847-2975)" "0000376955" "00000016" "99" "8849" "0" "8849" "0" "c.8849T>A" "r.(?)" "p.(Ile2950Asn)" "61" "Cadherin 27 (2847-2975)" "0000376956" "00000016" "99" "8849" "0" "8849" "0" "c.8849T>A" "r.(?)" "p.(Ile2950Asn)" "61" "Cadherin 27 (2847-2975)" "0000376957" "00000016" "99" "8849" "0" "8849" "0" "c.8849T>A" "r.(?)" "p.(Ile2950Asn)" "61" "Cadherin 27 (2847-2975)" "0000376958" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376959" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376960" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376961" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376962" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376963" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376964" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376965" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376966" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376967" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376968" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376969" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376970" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376971" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376972" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376973" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376974" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376975" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376976" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376977" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376978" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376979" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376980" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376981" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376982" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376983" "00000016" "99" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "26" "Cadherin 9 (891-995)" "0000376984" "00000016" "75" "4756" "0" "4756" "0" "c.4756G>C" "r.(?)" "p.(Ala1586Pro)" "38" "Cadherin 15 (1529-1634)" "0000376985" "00000016" "99" "4756" "0" "4756" "0" "c.4756G>C" "r.(?)" "p.(Ala1586Pro)" "38" "Cadherin 15 (1529-1634)" "0000376986" "00000016" "75" "4756" "0" "4756" "0" "c.4756G>C" "r.(?)" "p.(Ala1586Pro)" "38" "Cadherin 15 (1529-1634)" "0000376987" "00000016" "75" "4756" "0" "4756" "0" "c.4756G>C" "r.(?)" "p.(Ala1586Pro)" "38" "Cadherin 15 (1529-1634)" "0000376988" "00000016" "75" "4756" "0" "4756" "0" "c.4756G>C" "r.(?)" "p.(Ala1586Pro)" "38" "Cadherin 15 (1529-1634)" "0000376989" "00000016" "75" "4756" "0" "4756" "0" "c.4756G>C" "r.(?)" "p.(Ala1586Pro)" "38" "Cadherin 15 (1529-1634)" "0000376990" "00000016" "99" "6968" "0" "6968" "0" "c.6968del" "r.(?)" "p.(Pro2323Leufs*50)" "50" "Cadherin 22 (2297-2402)" "0000376991" "00000016" "99" "8230" "0" "8230" "0" "c.8230G>A" "r.(?)" "p.(Gly2744Ser)" "58" "Cadherin 26 (2729-2846)" "0000376992" "00000016" "99" "8230" "0" "8230" "0" "c.8230G>A" "r.(?)" "p.(Gly2744Ser)" "58" "Cadherin 26 (2729-2846)" "0000376993" "00000016" "99" "7549" "0" "7549" "0" "c.7549A>G" "r.(?)" "p.(Ser2517Gly)" "54" "Cadherin 24 (2510-2611)" "0000376994" "00000016" "99" "3617" "0" "3617" "0" "c.3617C>G" "r.(?)" "p.(Pro1206Arg)" "31" "Cadherin 11 (1103-1208)" "0000376995" "00000016" "99" "3617" "0" "3617" "0" "c.3617C>G" "r.(?)" "p.(Pro1206Arg)" "31" "Cadherin 11 (1103-1208)" "0000376996" "00000016" "99" "6155" "0" "6155" "0" "c.6155del" "r.(?)" "p.(Thr2052Argfs*28)" "47" "Cadherin 19 (1960-2069)" "0000376997" "00000016" "99" "6155" "0" "6155" "0" "c.6155del" "r.(?)" "p.(Thr2052Argfs*28)" "47" "Cadherin 19 (1960-2069)" "0000376998" "00000016" "99" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "37" "Cadherin 14 (1420-1527)" "0000376999" "00000016" "99" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "37" "Cadherin 14 (1420-1527)" "0000377000" "00000016" "99" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "37" "Cadherin 14 (1420-1527)" "0000377001" "00000016" "99" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "37" "Cadherin 14 (1420-1527)" "0000377002" "00000016" "99" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "37" "Cadherin 14 (1420-1527)" "0000377003" "00000016" "99" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "37" "Cadherin 14 (1420-1527)" "0000377004" "00000016" "99" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "37" "Cadherin 14 (1420-1527)" "0000377005" "00000016" "99" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "37" "Cadherin 14 (1420-1527)" "0000377006" "00000016" "99" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "37" "Cadherin 14 (1420-1527)" "0000377007" "00000016" "90" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "37" "Cadherin 14 (1420-1527)" "0000377008" "00000016" "99" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Arg582Gln)" "16" "Cadherin 6 (562-671)" "0000377009" "00000016" "99" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Arg582Gln)" "16" "Cadherin 6 (562-671)" "0000377010" "00000016" "99" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Gln58*)" "4" "Cadherin 1 (34-132)" "0000377011" "00000016" "99" "4783" "0" "4783" "0" "c.4783G>A" "r.(?)" "p.(Glu1595Lys)" "38" "Cadherin 15 (1529-1634)" "0000377012" "00000016" "99" "4783" "0" "4783" "0" "c.4783G>A" "r.(?)" "p.(Glu1595Lys)" "38" "Cadherin 15 (1529-1634)" "0000377013" "00000016" "99" "4783" "0" "4783" "0" "c.4783G>A" "r.(?)" "p.(Glu1595Lys)" "38" "Cadherin 15 (1529-1634)" "0000377014" "00000016" "99" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Asp124Gly)" "6" "Cadherin 1 (34-132)" "0000377015" "00000016" "99" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Asp124Gly)" "6" "Cadherin 1 (34-132)" "0000377016" "00000016" "99" "7393" "0" "7393" "0" "c.7393C>T" "r.(?)" "p.(Arg2465Trp)" "53" "Cadherin 23 (2403-2509)" "0000377017" "00000016" "99" "7393" "0" "7393" "0" "c.7393C>T" "r.(?)" "p.(Arg2465Trp)" "53" "Cadherin 23 (2403-2509)" "0000377018" "00000016" "99" "3105" "0" "3105" "0" "c.3105A>T" "r.(?)" "p.(=)" "26" "Cadherin 10 (996-1102)" "0000377019" "00000016" "99" "3105" "0" "3105" "0" "c.3105A>T" "r.(?)" "p.(=)" "26" "Cadherin 10 (996-1102)" "0000377020" "00000016" "99" "3840" "0" "3840" "0" "c.3840insATGA" "r.(?)" "p.(Met1280Ilefs*2)" "" "Cadherin 12 (1210-1313)" "0000377021" "00000016" "99" "3840" "0" "3840" "0" "c.3840insATGA" "r.(?)" "p.(Met1280Ilefs*2)" "" "Cadherin 12 (1210-1313)" "0000377022" "00000016" "99" "193" "0" "193" "0" "c.193del" "r.(?)" "p.(Leu65Trpfs*49)" "4" "Cadherin 1 (34-132)" "0000377023" "00000016" "99" "193" "0" "193" "0" "c.193del" "r.(?)" "p.(Leu65Trpfs*49)" "4" "Cadherin 1 (34-132)" "0000377024" "00000016" "99" "193" "0" "193" "0" "c.193del" "r.(?)" "p.(Leu65Trpfs*49)" "4" "Cadherin 1 (34-132)" "0000377025" "00000016" "99" "193" "0" "193" "0" "c.193del" "r.(?)" "p.(Leu65Trpfs*49)" "4" "Cadherin 1 (34-132)" "0000377026" "00000016" "99" "193" "0" "193" "0" "c.193del" "r.(?)" "p.(Leu65Trpfs*49)" "4" "Cadherin 1 (34-132)" "0000377027" "00000016" "99" "193" "0" "193" "0" "c.193del" "r.(?)" "p.(Leu65Trpfs*49)" "4" "Cadherin 1 (34-132)" "0000377028" "00000016" "99" "193" "0" "193" "0" "c.193del" "r.(?)" "p.(Leu65Trpfs*49)" "4" "Cadherin 1 (34-132)" "0000377029" "00000016" "99" "193" "0" "193" "0" "c.193del" "r.(?)" "p.(Leu65Trpfs*49)" "4" "Cadherin 1 (34-132)" "0000377030" "00000016" "99" "3557" "0" "3557" "0" "c.3557G>A" "r.(?)" "p.(Gly1186Asp)" "30" "Cadherin 11 (1103-1208)" "0000377031" "00000016" "99" "1439" "0" "1439" "0" "c.1439T>A" "r.(?)" "p.(Leu480Gln)" "14" "Cadherin 5 (461-561)" "0000377032" "00000016" "99" "1087" "0" "1087" "0" "c.1087del" "r.(?)" "p.(Val363Serfs*20)" "11" "Cadherin 4 (349-460)" "0000377033" "00000016" "99" "1087" "0" "1087" "0" "c.1087del" "r.(?)" "p.(Val363Serfs*20)" "11" "Cadherin 4 (349-460)" "0000377034" "00000016" "35" "9524" "0" "9524" "0" "c.9524G>A" "r.(?)" "p.(Arg3175His)" "68" "Cytoplasmic (3086-3354)" "0000377035" "00000016" "35" "9524" "0" "9524" "0" "c.9524G>A" "r.(?)" "p.(Arg3175His)" "68" "Cytoplasmic (3086-3354)" "0000377036" "00000016" "99" "5536" "0" "5536" "0" "c.5536G>A" "r.(?)" "p.(=)" "43" "Cadherin 17 (1745-1851)" "0000377037" "00000016" "99" "1355" "0" "1355" "0" "c.1355A>G" "r.(?)" "p.(Asn452Ser)" "14" "Cadherin 4 (349-460)" "0000377038" "00000016" "35" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "27" "Cadherin 10 (996-1102)" "0000377039" "00000016" "35" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "27" "Cadherin 10 (996-1102)" "0000377040" "00000016" "35" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "27" "Cadherin 10 (996-1102)" "0000377041" "00000016" "35" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "27" "Cadherin 10 (996-1102)" "0000377042" "00000016" "35" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "27" "Cadherin 10 (996-1102)" "0000377043" "00000016" "99" "1112" "0" "1112" "0" "c.1112del" "r.(?)" "p.(Ile371Thrfs*12)" "11" "Cadherin 4 (349-460)" "0000377044" "00000016" "99" "1112" "0" "1112" "0" "c.1112del" "r.(?)" "p.(Ile371Thrfs*12)" "11" "Cadherin 4 (349-460)" "0000377045" "00000016" "99" "1112" "0" "1112" "0" "c.1112del" "r.(?)" "p.(Ile371Thrfs*12)" "11" "Cadherin 4 (349-460)" "0000377046" "00000016" "99" "1112" "0" "1112" "0" "c.1112del" "r.(?)" "p.(Ile371Thrfs*12)" "11" "Cadherin 4 (349-460)" "0000377047" "00000016" "99" "9626" "0" "9626" "0" "c.9626dup" "r.(?)" "p.(Ile3210Asnfs*37)" "68" "Cytoplasmic (3086-3354)" "0000377048" "00000016" "99" "8497" "0" "8497" "0" "c.8497C>G" "r.(?)" "p.(Arg2833Gly)" "59" "Cadherin 26 (2729-2846)" "0000377049" "00000016" "99" "4520" "0" "4520" "0" "c.4520G>A" "r.(?)" "p.(Arg1507Gln)" "37" "Cadherin 14 (1420-1527)" "0000377050" "00000016" "99" "4520" "0" "4520" "0" "c.4520G>A" "r.(?)" "p.(Arg1507Gln)" "37" "Cadherin 14 (1420-1527)" "0000377051" "00000016" "75" "9565" "0" "9565" "0" "c.9565C>T" "r.(?)" "p.(Arg3189Trp)" "68" "Cytoplasmic (3086-3354)" "0000377052" "00000016" "75" "9565" "0" "9565" "0" "c.9565C>T" "r.(?)" "p.(Arg3189Trp)" "68" "Cytoplasmic (3086-3354)" "0000377053" "00000016" "75" "9734" "0" "9734" "0" "c.9734C>T" "r.(?)" "p.(Ser3245Phe)" "69" "Cytoplasmic (3086-3354)" "0000377054" "00000016" "75" "9734" "0" "9734" "0" "c.9734C>T" "r.(?)" "p.(Ser3245Phe)" "69" "Cytoplasmic (3086-3354)" "0000377055" "00000016" "99" "6713" "-3" "6713" "-1" "c.6713-3_6713-1del" "r.spl" "p.?" "48i" "" "0000377056" "00000016" "99" "6391" "0" "6391" "0" "c.6391dup" "r.(?)" "p.(Thr2131Asnfs*36)" "48" "Cadherin 20 (2070-2174)" "0000377057" "00000016" "95" "790" "0" "790" "0" "c.790G>T" "r.(?)" "p.(Asp264Tyr)" "9" "Cadherin 3 (237-348)" "0000377058" "00000016" "99" "8054" "0" "8055" "0" "c.8054_8055del" "r.(?)" "p.(Ala2685Glyfs*32)" "56" "Cadherin 25 (2614-2722)" "0000377059" "00000016" "99" "8054" "0" "8055" "0" "c.8054_8055del" "r.(?)" "p.(Ala2685Glyfs*32)" "56" "Cadherin 25 (2614-2722)" "0000377060" "00000016" "99" "8054" "0" "8055" "0" "c.8054_8055del" "r.(?)" "p.(Ala2685Glyfs*32)" "56" "Cadherin 25 (2614-2722)" "0000377061" "00000016" "99" "8054" "0" "8055" "0" "c.8054_8055del" "r.(?)" "p.(Ala2685Glyfs*32)" "56" "Cadherin 25 (2614-2722)" "0000377062" "00000016" "11" "7054" "53" "7054" "53" "c.7054+53T>G" "r.(=)" "p.(=)" "50i" "" "0000377063" "00000016" "15" "9319" "72" "9319" "73" "c.9319+72_9319+73insTC" "r.(?)" "p.(=)" "65i" "" "0000377064" "00000016" "15" "9319" "72" "9319" "73" "c.9319+72_9319+73insTC" "r.(?)" "p.(=)" "65i" "" "0000377065" "00000016" "15" "9319" "72" "9319" "73" "c.9319+72_9319+73insTC" "r.(?)" "p.(=)" "65i" "" "0000377066" "00000016" "11" "9319" "72" "9319" "73" "c.9319+72_9319+73insTC" "r.(?)" "p.(=)" "65i" "" "0000377067" "00000016" "15" "9319" "72" "9319" "73" "c.9319+72_9319+73insTC" "r.(?)" "p.(=)" "65i" "" "0000377068" "00000016" "15" "9319" "72" "9319" "73" "c.9319+72_9319+73insTC" "r.(?)" "p.(=)" "65i" "" "0000377069" "00000016" "15" "9319" "72" "9319" "73" "c.9319+72_9319+73insTC" "r.(?)" "p.(=)" "65i" "" "0000377080" "00000016" "75" "5869" "0" "5869" "0" "c.5869C>T" "r.(?)" "p.(Pro1957Ser)" "45" "Cadherin 18 (1852-1959)" "0000377081" "00000016" "75" "5869" "0" "5869" "0" "c.5869C>T" "r.(?)" "p.(Pro1957Ser)" "45" "Cadherin 18 (1852-1959)" "0000377082" "00000016" "75" "5869" "0" "5869" "0" "c.5869C>T" "r.(?)" "p.(Pro1957Ser)" "45" "Cadherin 18 (1852-1959)" "0000377083" "00000016" "75" "5869" "0" "5869" "0" "c.5869C>T" "r.(?)" "p.(Pro1957Ser)" "45" "Cadherin 18 (1852-1959)" "0000377089" "00000016" "11" "3664" "0" "3664" "0" "c.3664G>A" "r.(?)" "p.(Ala1222Thr)" "31" "Cadherin 12 (1210-1313)" "0000377090" "00000016" "11" "3664" "0" "3664" "0" "c.3664G>A" "r.(?)" "p.(Ala1222Thr)" "31" "Cadherin 12 (1210-1313)" "0000377092" "00000016" "99" "9167" "0" "9167" "0" "c.9167del" "r.(?)" "p.(Val3056Alafs*31)" "63" "" "0000377093" "00000016" "99" "9167" "0" "9167" "0" "c.9167del" "r.(?)" "p.(Val3056Alafs*31)" "63" "" "0000377094" "00000016" "99" "9167" "0" "9167" "0" "c.9167del" "r.(?)" "p.(Val3056Alafs*31)" "63" "" "0000377095" "00000016" "99" "9167" "0" "9167" "0" "c.9167del" "r.(?)" "p.(Val3056Alafs*31)" "63" "" "0000377096" "00000016" "99" "9167" "0" "9167" "0" "c.9167del" "r.(?)" "p.(Val3056Alafs*31)" "63" "" "0000377097" "00000016" "99" "9167" "0" "9167" "0" "c.9167del" "r.(?)" "p.(Val3056Alafs*31)" "63" "" "0000377098" "00000016" "11" "5188" "-128" "5188" "-128" "c.5188-128T>A" "r.(=)" "p.(=)" "40i" "" "0000377099" "00000016" "11" "5188" "-128" "5188" "-128" "c.5188-128T>A" "r.(=)" "p.(=)" "40i" "" "0000377100" "00000016" "11" "5188" "-128" "5188" "-128" "c.5188-128T>A" "r.(=)" "p.(=)" "40i" "" "0000377101" "00000016" "11" "5188" "-128" "5188" "-128" "c.5188-128T>A" "r.(=)" "p.(=)" "40i" "" "0000377104" "00000016" "11" "1135" "-128" "1135" "-128" "c.1135-128A>G" "r.(=)" "p.(=)" "11i" "" "0000377105" "00000016" "11" "1135" "-128" "1135" "-128" "c.1135-128A>G" "r.(=)" "p.(=)" "11i" "" "0000377106" "00000016" "11" "1135" "-128" "1135" "-128" "c.1135-128A>G" "r.(=)" "p.(=)" "11i" "" "0000377107" "00000016" "11" "1135" "-128" "1135" "-128" "c.1135-128A>G" "r.(=)" "p.(=)" "11i" "" "0000377108" "00000016" "11" "1135" "-128" "1135" "-128" "c.1135-128A>G" "r.(=)" "p.(=)" "11i" "" "0000377111" "00000016" "35" "2591" "0" "2591" "0" "c.2591G>A" "r.(?)" "p.(Gly864Asp)" "24" "Cadherin 8 (779-890)" "0000377112" "00000016" "35" "2591" "0" "2591" "0" "c.2591G>A" "r.(?)" "p.(Gly864Asp)" "24" "Cadherin 8 (779-890)" "0000377113" "00000016" "35" "5685" "0" "5685" "0" "c.5685C>T" "r.5685c>t" "p.=" "43" "Cadherin 18 (1852-1959)" "0000377114" "00000016" "35" "5685" "0" "5685" "0" "c.5685C>T" "r.5685c>t" "p.=" "43" "Cadherin 18 (1852-1959)" "0000377115" "00000016" "99" "4759" "0" "4766" "0" "c.4759_4766del" "r.(?)" "p.(Thr1587Cysfs*4)" "38" "Cadherin 18 (1852-1959)" "0000377116" "00000016" "99" "4759" "0" "4766" "0" "c.4759_4766del" "r.(?)" "p.(Thr1587Cysfs*4)" "38" "Cadherin 18 (1852-1959)" "0000377117" "00000016" "15" "5923" "77" "5923" "77" "c.5923+77T>C" "r.(=)" "p.(=)" "45i" "" "0000377118" "00000016" "15" "5923" "77" "5923" "77" "c.5923+77T>C" "r.(=)" "p.(=)" "45i" "" "0000377119" "00000016" "15" "5923" "77" "5923" "77" "c.5923+77T>C" "r.(=)" "p.(=)" "45i" "" "0000377120" "00000016" "15" "7593" "0" "7593" "0" "c.7593G>C" "r.(?)" "p.(Met2531Ile)" "54" "Cadherin 24 (2510-2611)" "0000377121" "00000016" "15" "8723" "-102" "8723" "-102" "c.8723-102G>A" "r.(=)" "p.(=)" "60i" "" "0000377122" "00000016" "11" "9380" "111" "9380" "111" "c.9380+111C>T" "r.(=)" "p.(=)" "66i" "" "0000377123" "00000016" "11" "9380" "111" "9380" "111" "c.9380+111C>T" "r.(=)" "p.(=)" "66i" "" "0000377124" "00000016" "11" "9380" "111" "9380" "111" "c.9380+111C>T" "r.(=)" "p.(=)" "66i" "" "0000377125" "00000016" "11" "1291" "-89" "1291" "-89" "c.1291-89C>T" "r.(=)" "p.(=)" "13i" "" "0000377126" "00000016" "11" "4069" "0" "4069" "0" "c.4069C>T" "r.(?)" "p.(Gln1357*)" "32" "Cadherin 13 (1314-1418)" "0000377127" "00000016" "15" "6847" "0" "6847" "0" "c.6847G>A" "r.(?)" "p.(Val2283Ile)" "50" "Cadherin 21 (2175-2293)" "0000377128" "00000016" "15" "6847" "0" "6847" "0" "c.6847G>A" "r.(?)" "p.(Val2283Ile)" "50" "Cadherin 21 (2175-2293)" "0000377129" "00000016" "15" "6847" "0" "6847" "0" "c.6847G>A" "r.(?)" "p.(Val2283Ile)" "50" "Cadherin 21 (2175-2293)" "0000377130" "00000016" "15" "6847" "0" "6847" "0" "c.6847G>A" "r.(?)" "p.(Val2283Ile)" "50" "Cadherin 21 (2175-2293)" "0000377131" "00000016" "15" "6847" "0" "6847" "0" "c.6847G>A" "r.(?)" "p.(Val2283Ile)" "50" "Cadherin 21 (2175-2293)" "0000377132" "00000016" "15" "6847" "0" "6847" "0" "c.6847G>A" "r.(?)" "p.(Val2283Ile)" "50" "Cadherin 21 (2175-2293)" "0000377133" "00000016" "11" "9380" "109" "9380" "109" "c.9380+109G>A" "r.(=)" "p.(=)" "66i" "" "0000377134" "00000016" "11" "9380" "109" "9380" "109" "c.9380+109G>A" "r.(=)" "p.(=)" "66i" "" "0000377135" "00000016" "99" "3241" "0" "3241" "0" "c.3241C>T" "r.(?)" "p.(Arg1081*)" "28" "Cadherin 10 (996-1102)" "0000377136" "00000016" "35" "5418" "0" "5418" "0" "c.5418C>G" "r.(?)" "p.(Asp1806Glu)" "42" "Cadherin 17 (1745-1851)" "0000377137" "00000016" "11" "5418" "0" "5418" "0" "c.5418C>G" "r.(?)" "p.(Asp1806Glu)" "42" "Cadherin 17 (1745-1851)" "0000377138" "00000016" "99" "9489" "0" "9489" "0" "c.9489G>A" "r.(?)" "p.(Trp3163*)" "67" "Cytoplasmic (3086-3354)" "0000377139" "00000016" "99" "5821" "-2262" "6253" "422" "c.5821-2262_6253+422del" "r.(?)" "p.(Tyr1942Serfs*23)" "44i_47i" "Cadherin 18 (1852-1959)" "0000377140" "00000016" "99" "5821" "-2262" "6253" "422" "c.5821-2262_6253+422del" "r.(?)" "p.(Tyr1942Serfs*23)" "44i_47i" "Cadherin 18 (1852-1959)" "0000377141" "00000016" "11" "1134" "113" "1134" "113" "c.1134+113C>T" "r.(=)" "p.(=)" "11i" "" "0000377142" "00000016" "99" "2177" "-104" "2290" "-311" "c.2177-104_2290-311dup{insA}" "r.(?)" "p.(?)" "" "Cadherin 7 (672-784)" "0000377143" "00000016" "75" "3215" "0" "3215" "0" "c.3215C>A" "r.(?)" "p.(Ala1072Asp)" "27" "Cadherin 10 (996-1102)" "0000377144" "00000016" "75" "3215" "0" "3215" "0" "c.3215C>A" "r.(?)" "p.(Ala1072Asp)" "27" "Cadherin 10 (996-1102)" "0000377145" "00000016" "75" "3215" "0" "3215" "0" "c.3215C>A" "r.(?)" "p.(Ala1072Asp)" "27" "Cadherin 10 (996-1102)" "0000377146" "00000016" "75" "3215" "0" "3215" "0" "c.3215C>A" "r.(?)" "p.(Ala1072Asp)" "27" "Cadherin 10 (996-1102)" "0000377147" "00000016" "75" "3215" "0" "3215" "0" "c.3215C>A" "r.(?)" "p.(Ala1072Asp)" "27" "Cadherin 10 (996-1102)" "0000377148" "00000016" "75" "3215" "0" "3215" "0" "c.3215C>A" "r.(?)" "p.(Ala1072Asp)" "27" "Cadherin 10 (996-1102)" "0000377149" "00000016" "75" "3215" "0" "3215" "0" "c.3215C>A" "r.(?)" "p.(Ala1072Asp)" "27" "Cadherin 10 (996-1102)" "0000377150" "00000016" "75" "3215" "0" "3215" "0" "c.3215C>A" "r.(?)" "p.(Ala1072Asp)" "27" "Cadherin 10 (996-1102)" "0000377151" "00000016" "75" "3215" "0" "3215" "0" "c.3215C>A" "r.(?)" "p.(Ala1072Asp)" "27" "Cadherin 10 (996-1102)" "0000377152" "00000016" "75" "3215" "0" "3215" "0" "c.3215C>A" "r.(?)" "p.(Ala1072Asp)" "27" "Cadherin 10 (996-1102)" "0000377153" "00000016" "75" "3215" "0" "3215" "0" "c.3215C>A" "r.(?)" "p.(Ala1072Asp)" "27" "Cadherin 10 (996-1102)" "0000377154" "00000016" "75" "3215" "0" "3215" "0" "c.3215C>A" "r.(?)" "p.(Ala1072Asp)" "27" "Cadherin 10 (996-1102)" "0000377155" "00000016" "99" "5122" "0" "5123" "0" "c.5122_5123insN[20]" "r.(?)" "p.(Thr1708Lysfs*9)" "40" "Cadherin 16 (1635-1744)" "0000377156" "00000016" "99" "5122" "0" "5123" "0" "c.5122_5123insN[20]" "r.(?)" "p.(Thr1708Lysfs*9)" "40" "Cadherin 16 (1635-1744)" "0000377157" "00000016" "99" "5122" "0" "5123" "0" "c.5122_5123insN[20]" "r.(?)" "p.(Thr1708Lysfs*9)" "40" "Cadherin 16 (1635-1744)" "0000377158" "00000016" "99" "5122" "0" "5123" "0" "c.5122_5123insN[20]" "r.(?)" "p.(Thr1708Lysfs*9)" "40" "Cadherin 16 (1635-1744)" "0000377159" "00000016" "99" "5122" "0" "5123" "0" "c.5122_5123insN[20]" "r.(?)" "p.(Thr1708Lysfs*9)" "40" "Cadherin 16 (1635-1744)" "0000377160" "00000016" "99" "5122" "0" "5123" "0" "c.5122_5123insN[20]" "r.(?)" "p.(Thr1708Lysfs*9)" "40" "Cadherin 16 (1635-1744)" "0000377161" "00000016" "99" "5122" "0" "5123" "0" "c.5122_5123insN[20]" "r.(?)" "p.(Thr1708Lysfs*9)" "40" "Cadherin 16 (1635-1744)" "0000377162" "00000016" "99" "5122" "0" "5123" "0" "c.5122_5123insN[20]" "r.(?)" "p.(Thr1708Lysfs*9)" "40" "Cadherin 16 (1635-1744)" "0000377165" "00000016" "75" "9127" "0" "9127" "0" "c.9127C>T" "r.(?)" "p.(Arg3043Trp)" "63" "" "0000377166" "00000016" "99" "6404" "0" "6405" "0" "c.6404_6405del" "r.(?)" "p.(Glu2135Glyfs*31)" "48" "Cadherin 20 (2070-2174)" "0000377167" "00000016" "75" "4136" "0" "4136" "0" "c.4136G>C" "r.(?)" "p.(Arg1379Pro)" "33" "Cadherin 13 (1314-1418)" "0000377168" "00000016" "75" "7916" "0" "7916" "0" "c.7916A>G" "r.(?)" "p.(Asp2639Gly)" "56" "Cadherin 25 (2614-2722)" "0000377169" "00000016" "75" "3565" "0" "3565" "0" "c.3565C>T" "r.(?)" "p.(Arg1189Trp)" "30" "Cadherin 11 (1103-1208)" "0000377170" "00000016" "15" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(=)" "4" "Cadherin 1 (34-132)" "0000377171" "00000016" "15" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(=)" "4" "Cadherin 1 (34-132)" "0000377172" "00000016" "15" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(=)" "4" "Cadherin 1 (34-132)" "0000377173" "00000016" "15" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(=)" "4" "Cadherin 1 (34-132)" "0000377174" "00000016" "15" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(=)" "4" "Cadherin 1 (34-132)" "0000377175" "00000016" "15" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(=)" "4" "Cadherin 1 (34-132)" "0000377176" "00000016" "15" "3895" "0" "3895" "0" "c.3895G>A" "r.(?)" "p.(Val1299Ile)" "32" "Cadherin 12 (1210-1313)" "0000377177" "00000016" "15" "4786" "0" "4786" "0" "c.4786C>T" "r.(?)" "p.(Arg1596Cys)" "38" "Cadherin 15 (1529-1634)" "0000377178" "00000016" "15" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "7" "Cadherin 2 (133-236)" "0000377179" "00000016" "15" "1449" "1446" "1449" "1446" "c.1449+1446C>T" "r.(=)" "p.(=)" "14i" "" "0000377180" "00000016" "15" "1449" "1446" "1449" "1446" "c.1449+1446C>T" "r.(=)" "p.(=)" "14i" "" "0000377181" "00000016" "15" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "16" "Cadherin 5 (461-561)" "0000377182" "00000016" "15" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "16" "Cadherin 5 (461-561)" "0000377183" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000377184" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000377185" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000377186" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000377187" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000377188" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000377189" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000377190" "00000016" "11" "3370" "-29" "3370" "-29" "c.3370-29G>A" "r.(=)" "p.(=)" "28i" "" "0000377191" "00000016" "15" "10036" "0" "10036" "0" "c.10036G>C" "r.(?)" "p.(Glu3346Gln)" "70" "Cytoplasmic (3086-3354)" "0000377192" "00000016" "15" "10036" "0" "10036" "0" "c.10036G>C" "r.(?)" "p.(Glu3346Gln)" "70" "Cytoplasmic (3086-3354)" "0000377193" "00000016" "15" "3369" "2609" "3369" "2609" "c.3369+2609G>A" "r.(=)" "p.(=)" "28i" "" "0000377194" "00000016" "15" "3369" "2609" "3369" "2609" "c.3369+2609G>A" "r.(=)" "p.(=)" "28i" "" "0000377195" "00000016" "11" "4104" "168" "4104" "168" "c.4104+168G>A" "r.(=)" "p.(=)" "32i" "" "0000377196" "00000016" "11" "4104" "168" "4104" "168" "c.4104+168G>A" "r.(=)" "p.(=)" "32i" "" "0000377197" "00000016" "11" "4104" "168" "4104" "168" "c.4104+168G>A" "r.(=)" "p.(=)" "32i" "" "0000377198" "00000016" "15" "3716" "-26" "3716" "-26" "c.3716-26T>C" "r.(=)" "p.(=)" "31i" "" "0000377199" "00000016" "15" "1752" "126" "1752" "126" "c.1752+126G>A" "r.(=)" "p.(=)" "16i" "" "0000377200" "00000016" "11" "3845" "0" "3845" "0" "c.3845A>G" "r.(?)" "p.(Asn1282Ser)" "32" "Cadherin 12 (1210-1313)" "0000377201" "00000016" "11" "3845" "0" "3845" "0" "c.3845A>G" "r.(?)" "p.(Asn1282Ser)" "32" "Cadherin 12 (1210-1313)" "0000377202" "00000016" "11" "1858" "79" "1858" "79" "c.1858+79G>A" "r.(=)" "p.(=)" "17i" "" "0000377203" "00000016" "11" "1858" "79" "1858" "79" "c.1858+79G>A" "r.(=)" "p.(=)" "17i" "" "0000377204" "00000016" "11" "1858" "79" "1858" "79" "c.1858+79G>A" "r.(=)" "p.(=)" "17i" "" "0000377205" "00000016" "11" "1858" "79" "1858" "79" "c.1858+79G>A" "r.(=)" "p.(=)" "17i" "" "0000377206" "00000016" "15" "2289" "20" "2289" "20" "c.2289+20G>C" "r.(=)" "p.(=)" "21i" "" "0000377207" "00000016" "15" "6713" "-374" "6713" "-374" "c.6713-374C>T" "r.(=)" "p.(=)" "48i" "" "0000377208" "00000016" "15" "6713" "-374" "6713" "-374" "c.6713-374C>T" "r.(=)" "p.(=)" "48i" "" "0000377209" "00000016" "15" "7224" "85" "7224" "85" "c.7224+85C>T" "r.(=)" "p.(=)" "51i" "" "0000377210" "00000016" "15" "7224" "85" "7224" "85" "c.7224+85C>T" "r.(=)" "p.(=)" "51i" "" "0000377211" "00000016" "15" "9238" "0" "9238" "0" "c.9238G>A" "r.(?)" "p.(Ala3080Thr)" "64" "Transmembrane (3065-3085)" "0000377212" "00000016" "15" "9238" "0" "9238" "0" "c.9238G>A" "r.(?)" "p.(Ala3080Thr)" "64" "Transmembrane (3065-3085)" "0000377213" "00000016" "99" "6712" "1" "6712" "1" "c.6712+1G>A" "r.spl" "p.?" "48i" "" "0000377214" "00000016" "15" "8979" "8" "8979" "8" "c.8979+8A>G" "r.(=)" "p.(=)" "61i" "" "0000377215" "00000016" "11" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Ser436Asn)" "14" "Cadherin 4 (349-460)" "0000377216" "00000016" "11" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Ser436Asn)" "14" "Cadherin 4 (349-460)" "0000377217" "00000016" "15" "2954" "-128" "2954" "-128" "c.2954-128C>T" "r.(=)" "p.(=)" "25i" "" "0000377218" "00000016" "15" "7873" "-33" "7873" "-33" "c.7873-33G>A" "r.(=)" "p.(=)" "55i" "" "0000377219" "00000016" "15" "3801" "0" "3801" "0" "c.3801C>T" "r.(?)" "p.(=)" "32" "Cadherin 12 (1210-1313)" "0000377220" "00000016" "15" "3801" "0" "3801" "0" "c.3801C>T" "r.(?)" "p.(=)" "32" "Cadherin 12 (1210-1313)" "0000377221" "00000016" "15" "9015" "0" "9015" "0" "c.9015G>A" "r.(?)" "p.(=)" "62" "" "0000377222" "00000016" "15" "9015" "0" "9015" "0" "c.9015G>A" "r.(?)" "p.(=)" "62" "" "0000377223" "00000016" "15" "9015" "0" "9015" "0" "c.9015G>A" "r.(?)" "p.(=)" "62" "" "0000377224" "00000016" "15" "1987" "-49" "1987" "-49" "c.1987-49C>T" "r.(=)" "p.(=)" "18i" "" "0000377225" "00000016" "35" "6049" "60" "6049" "60" "c.6049+60T>A" "r.(=)" "p.(=)" "46i" "" "0000377226" "00000016" "35" "9973" "0" "9973" "0" "c.9973C>G" "r.(?)" "p.(Arg3325Gly)" "70" "Cytoplasmic (3086-3354)" "0000377227" "00000016" "15" "-25" "0" "-25" "0" "c.-25C>T" "r.(=)" "p.(=)" "1" "" "0000377228" "00000016" "15" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Glu3251Lys)" "" "" "0000377229" "00000016" "15" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Glu3251Lys)" "" "" "0000377230" "00000016" "15" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Glu3251Lys)" "" "" "0000377231" "00000016" "15" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Glu3251Lys)" "" "" "0000377232" "00000016" "15" "5923" "86" "5923" "86" "c.5923+86C>T" "r.(=)" "p.(=)" "45i" "" "0000377233" "00000016" "15" "5923" "86" "5923" "86" "c.5923+86C>T" "r.(=)" "p.(=)" "45i" "" "0000377234" "00000016" "99" "7305" "0" "7305" "0" "c.7305dup" "r.(?)" "p.(Leu2436Thrfs*3)" "52" "Cadherin 23 (2403-2509)" "0000377235" "00000016" "15" "4210" "-71" "4210" "-71" "c.4210-71C>T" "r.(=)" "p.(=)" "34i" "" "0000377236" "00000016" "15" "4210" "-71" "4210" "-71" "c.4210-71C>T" "r.(=)" "p.(=)" "34i" "" "0000377237" "00000016" "11" "9873" "0" "9873" "0" "c.9873G>A" "r.(?)" "p.(=)" "70" "Cytoplasmic (3086-3354)" "0000377238" "00000016" "15" "146" "-120" "146" "-120" "c.146-120C>T" "r.(=)" "p.(=)" "3i" "" "0000377239" "00000016" "15" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Gln58Arg )" "4" "Cadherin 1 (34-132)" "0000377240" "00000016" "11" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(=)" "4" "Cadherin 1 (34-132)" "0000377241" "00000016" "15" "3369" "1543" "3369" "1543" "c.3369+1543C>T" "r.(=)" "p.(=)" "28i" "" "0000377242" "00000016" "15" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "" "" "0000377243" "00000016" "15" "7224" "37" "7224" "37" "c.7224+37C>T" "r.(=)" "p.(=)" "51i" "" "0000377244" "00000016" "11" "754" "-198" "754" "-198" "c.754-198C>T" "r.(=)" "p.(=)" "8i" "" "0000377245" "00000016" "15" "9634" "-100" "9634" "-100" "c.9634-100G>A" "r.(=)" "p.(=)" "68i" "" "0000377246" "00000016" "15" "6712" "67" "6712" "67" "c.6712+67C>T" "r.(=)" "p.(=)" "48i" "" "0000377247" "00000016" "15" "6712" "67" "6712" "67" "c.6712+67C>T" "r.(=)" "p.(=)" "48i" "" "0000377248" "00000016" "15" "9278" "51" "9278" "51" "c.9278+51T>C" "r.(=)" "p.(=)" "64i" "" "0000377249" "00000016" "15" "1752" "6" "1752" "6" "c.1752+6G>A" "r.(=)" "p.(=)" "16i" "" "0000377250" "00000016" "15" "4947" "0" "4947" "0" "c.4947G>A" "r.(?)" "p.(=)" "39" "Cadherin 16 (1635-1744)" "0000377251" "00000016" "15" "9278" "34" "9278" "34" "c.9278+34G>A" "r.(=)" "p.(=)" "64i" "" "0000377252" "00000016" "15" "10499" "0" "10499" "0" "c.*434G>A" "r.(=)" "p.(=)" "70" "3\'UTR" "0000377253" "00000016" "15" "3369" "2033" "3369" "2033" "c.3369+2033G>A" "r.(=)" "p.(=)" "28i" "" "0000377254" "00000016" "15" "5067" "15" "5067" "15" "c.5067+15G>A" "r.(=)" "p.(=)" "39i" "" "0000377255" "00000016" "15" "6648" "0" "6648" "0" "c.6648C>T" "r.(?)" "p.(=)" "48" "Cadherin 21 (2175-2293)" "0000377256" "00000016" "15" "67" "19" "67" "19" "c.67+19G>A" "r.(=)" "p.(=)" "2i" "" "0000377257" "00000016" "15" "4890" "0" "4890" "0" "c.4890C>T" "r.(?)" "p.(=)" "39" "Cadherin 15 (1529-1634)" "0000377258" "00000016" "15" "3369" "904" "3369" "904" "c.3369+904G>C" "r.(=)" "p.(=)" "28i" "" "0000377259" "00000016" "15" "3369" "904" "3369" "904" "c.3369+904G>C" "r.(=)" "p.(=)" "28i" "" "0000377260" "00000016" "15" "1514" "35" "1514" "35" "c.1514+35G>A" "r.(=)" "p.(=)" "15i" "" "0000377261" "00000016" "15" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Thr640Met )" "18" "Cadherin 6 (562-671)" "0000377262" "00000016" "35" "9014" "0" "9014" "0" "c.9014C>T" "r.(?)" "p.(Ala3005Val)" "62" "" "0000377263" "00000016" "15" "3716" "-120" "3716" "-120" "c.3716-120G>T" "r.(=)" "p.(=)" "31i" "" "0000377264" "00000016" "15" "4206" "154" "4206" "154" "c.4206+154A>G" "r.(=)" "p.(=)" "33i" "" "0000377265" "00000016" "15" "1986" "36" "1986" "36" "c.1986+36T>A" "r.(=)" "p.(=)" "18i" "" "0000377266" "00000016" "11" "3369" "3934" "3369" "3934" "c.3369+3934A>G" "r.(=)" "p.(=)" "28i" "" "0000377267" "00000016" "11" "3369" "3934" "3369" "3934" "c.3369+3934A>G" "r.(=)" "p.(=)" "28i" "" "0000377268" "00000016" "11" "3369" "3934" "3369" "3934" "c.3369+3934A>G" "r.(=)" "p.(=)" "28i" "" "0000377269" "00000016" "11" "3369" "3934" "3369" "3934" "c.3369+3934A>G" "r.(=)" "p.(=)" "28i" "" "0000377270" "00000016" "11" "3369" "3934" "3369" "3934" "c.3369+3934A>G" "r.(=)" "p.(=)" "28i" "" "0000377271" "00000016" "11" "3369" "3934" "3369" "3934" "c.3369+3934A>G" "r.(=)" "p.(=)" "28i" "" "0000377272" "00000016" "15" "2176" "59" "2176" "59" "c.2176+59C>T" "r.(=)" "p.(=)" "20i" "" "0000377273" "00000016" "15" "2235" "0" "2235" "0" "c.2235C>T" "r.(?)" "p.(=)" "21" "Cadherin 7 (672-784)" "0000377274" "00000016" "11" "2970" "0" "2970" "0" "c.2970C>T" "r.(?)" "p.(=)" "26" "Cadherin 9 (891-995)" "0000377275" "00000016" "11" "2970" "0" "2970" "0" "c.2970C>T" "r.(?)" "p.(=)" "26" "Cadherin 9 (891-995)" "0000377276" "00000016" "11" "2970" "0" "2970" "0" "c.2970C>T" "r.(?)" "p.(=)" "26" "Cadherin 9 (891-995)" "0000377277" "00000016" "11" "6130" "0" "6130" "0" "c.6130G>A" "r.(?)" "p.(Glu2044Lys)" "47" "Cadherin 19 (1960-2069)" "0000377278" "00000016" "15" "4104" "154" "4104" "154" "c.4104+154G>A" "r.(=)" "p.(=)" "32i" "" "0000377279" "00000016" "15" "1858" "26" "1858" "26" "c.1858+26C>G" "r.(=)" "p.(=)" "17i" "" "0000377280" "00000016" "35" "4231" "0" "4231" "0" "c.4231G>A" "r.(?)" "p.(Glu1411Lys )" "35" "Cadherin 13 (1314-1418)" "0000377281" "00000016" "11" "6197" "0" "6197" "0" "c.6197G>A" "r.(?)" "p.(Arg2066Gln)" "47" "Cadherin 19 (1960-2069)" "0000377282" "00000016" "15" "3369" "3186" "3369" "3186" "c.3369+3186C>T" "r.(=)" "p.(=)" "28i" "" "0000377283" "00000016" "99" "2177" "-2" "2177" "-2" "c.2177-2A>G" "r.spl" "p.?" "20i" "" "0000377284" "00000016" "75" "9122" "0" "9122" "0" "c.9122T>C" "r.(?)" "p.(Leu3041Pro)" "63" "" "0000377285" "00000016" "15" "946" "-24" "946" "-24" "c.946-24G>A" "r.(=)" "p.(=)" "10i" "" "0000377286" "00000016" "15" "946" "-24" "946" "-24" "c.946-24G>A" "r.(=)" "p.(=)" "10i" "" "0000377287" "00000016" "15" "9633" "25" "9633" "25" "c.9633+25G>A" "r.(=)" "p.(=)" "68i" "" "0000377288" "00000016" "15" "9633" "25" "9633" "25" "c.9633+25G>A" "r.(=)" "p.(=)" "68i" "" "0000377289" "00000016" "15" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Arg457Trp)" "14" "Cadherin 4 (349-460)" "0000377290" "00000016" "15" "4287" "0" "4287" "0" "c.4287C>T" "r.(?)" "p.(= )" "35" "Cadherin 14 (1420-1527)" "0000377291" "00000016" "11" "7722" "0" "7722" "0" "c.7722C>T" "r.(?)" "p.(=)" "55" "Cadherin 24 (2510-2611)" "0000377292" "00000016" "11" "7722" "0" "7722" "0" "c.7722C>T" "r.(?)" "p.(=)" "55" "Cadherin 24 (2510-2611)" "0000377293" "00000016" "15" "3369" "885" "3369" "885" "c.3369+885C>T" "r.(=)" "p.(=)" "28i" "" "0000377294" "00000016" "35" "3337" "0" "3337" "0" "c.3337G>C" "r.(?)" "p.(=)" "28" "Cadherin 11 (1103-1208)" "0000377295" "00000016" "15" "5924" "-153" "5924" "-153" "c.5924-153C>T" "r.(=)" "p.(=)" "45i" "" "0000377296" "00000016" "75" "8722" "0" "8722" "0" "c.8722G>A" "r.(?)" "p.(Gly2908Arg)" "60" "Cadherin 27 (2847-2975)" "0000377297" "00000016" "15" "1141" "-12562" "1141" "-12562" "c.1141-12562T>C" "r.(=)" "p.(=)" "11i" "" "0000377298" "00000016" "15" "4846" "-19" "4846" "-19" "c.4846-19G>A" "r.(=)" "p.(=)" "38i" "" "0000377299" "00000016" "15" "4846" "-19" "4846" "-19" "c.4846-19G>A" "r.(=)" "p.(=)" "38i" "" "0000377300" "00000016" "15" "3369" "3451" "3369" "3451" "c.3369+3451G>A" "r.(=)" "p.(=)" "28i" "" "0000377301" "00000016" "15" "3369" "3451" "3369" "3451" "c.3369+3451G>A" "r.(=)" "p.(=)" "28i" "" "0000377302" "00000016" "15" "146" "-139" "146" "-139" "c.146-139G>A" "r.(=)" "p.(=)" "3i" "" "0000377303" "00000016" "99" "6254" "-3" "6254" "0" "c.6254-3_6254delinsT" "r.spl?" "p.?" "47i_48" "" "0000377304" "00000016" "95" "7362" "0" "7362" "0" "c.7362G>A" "r.(?)" "p.(=)" "52" "Cadherin 23 (2403-2509)" "0000377305" "00000016" "15" "9380" "99" "9380" "99" "c.9380+99C>A" "r.(=)" "p.(=)" "66i" "" "0000377306" "00000016" "35" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(=)" "3" "Cadherin 1 (34-132)" "0000377307" "00000016" "15" "9279" "-30" "9279" "-30" "c.9279-30C>T" "r.(=)" "p.(=)" "64i" "" "0000377308" "00000016" "15" "5660" "0" "5660" "0" "c.5660C>T" "r.(?)" "p.(Thr1887Ile)" "43" "Cadherin 18 (1852-1959)" "0000377309" "00000016" "15" "5660" "0" "5660" "0" "c.5660C>T" "r.(?)" "p.(Thr1887Ile)" "43" "Cadherin 18 (1852-1959)" "0000377310" "00000016" "15" "4360" "-73" "4360" "-73" "c.4360-73G>A" "r.(=)" "p.(=)" "35i" "" "0000377311" "00000016" "15" "7225" "-28" "7225" "-28" "c.7225-28C>T" "r.(=)" "p.(=)" "51i" "" "0000377312" "00000016" "11" "7482" "64" "7482" "64" "c.7482+64C>T" "r.(=)" "p.(=)" "53i" "" "0000377313" "00000016" "15" "5541" "0" "5541" "0" "c.5541C>T" "r.(?)" "p.(=)" "43" "Cadherin 17 (1745-1851)" "0000377314" "00000016" "15" "10495" "0" "10495" "0" "c.*430A>T" "r.(=)" "p.(=)" "70" "3\'UTR" "0000377315" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377316" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377317" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377318" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377319" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377320" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377321" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377322" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377323" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377324" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377325" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377326" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377327" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377328" "00000016" "75" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "9" "Cadherin 3 (237-348)" "0000377329" "00000016" "75" "4267" "0" "4267" "0" "c.4267G>A" "r.(?)" "p.(Asp1423Asn)" "35" "Cadherin 14 (1420-1527)" "0000377330" "00000016" "75" "4267" "0" "4267" "0" "c.4267G>A" "r.(?)" "p.(Asp1423Asn)" "35" "Cadherin 14 (1420-1527)" "0000377331" "00000016" "75" "4267" "0" "4267" "0" "c.4267G>A" "r.(?)" "p.(Asp1423Asn)" "35" "Cadherin 14 (1420-1527)" "0000377332" "00000016" "75" "4267" "0" "4267" "0" "c.4267G>A" "r.(?)" "p.(Asp1423Asn)" "35" "Cadherin 14 (1420-1527)" "0000377333" "00000016" "75" "4267" "0" "4267" "0" "c.4267G>A" "r.(?)" "p.(Asp1423Asn)" "35" "Cadherin 14 (1420-1527)" "0000377334" "00000016" "75" "4267" "0" "4267" "0" "c.4267G>A" "r.(?)" "p.(Asp1423Asn)" "35" "Cadherin 14 (1420-1527)" "0000377335" "00000016" "75" "4829" "0" "4829" "0" "c.4829G>T" "r.(?)" "p.(Gly1610Val)" "38" "Cadherin 15 (1529-1634)" "0000377336" "00000016" "75" "4829" "0" "4829" "0" "c.4829G>T" "r.(?)" "p.(Gly1610Val)" "38" "Cadherin 15 (1529-1634)" "0000377337" "00000016" "75" "4829" "0" "4829" "0" "c.4829G>T" "r.(?)" "p.(Gly1610Val)" "38" "Cadherin 15 (1529-1634)" "0000377338" "00000016" "75" "4829" "0" "4829" "0" "c.4829G>T" "r.(?)" "p.(Gly1610Val)" "38" "Cadherin 15 (1529-1634)" "0000377339" "00000016" "75" "4829" "0" "4829" "0" "c.4829G>T" "r.(?)" "p.(Gly1610Val)" "38" "Cadherin 15 (1529-1634)" "0000377340" "00000016" "75" "4829" "0" "4829" "0" "c.4829G>T" "r.(?)" "p.(Gly1610Val)" "38" "Cadherin 15 (1529-1634)" "0000377341" "00000016" "75" "8113" "0" "8113" "0" "c.8113A>G" "r.(?)" "p.(Met2705Val)" "57" "Cadherin 25 (2614-2722)" "0000377342" "00000016" "75" "8113" "0" "8113" "0" "c.8113A>G" "r.(?)" "p.(Met2705Val)" "57" "Cadherin 25 (2614-2722)" "0000377343" "00000016" "75" "8113" "0" "8113" "0" "c.8113A>G" "r.(?)" "p.(Met2705Val)" "57" "Cadherin 25 (2614-2722)" "0000377344" "00000016" "75" "8113" "0" "8113" "0" "c.8113A>G" "r.(?)" "p.(Met2705Val)" "57" "Cadherin 25 (2614-2722)" "0000377345" "00000016" "75" "8113" "0" "8113" "0" "c.8113A>G" "r.(?)" "p.(Met2705Val)" "57" "Cadherin 25 (2614-2722)" "0000377346" "00000016" "75" "8113" "0" "8113" "0" "c.8113A>G" "r.(?)" "p.(Met2705Val)" "57" "Cadherin 25 (2614-2722)" "0000377347" "00000016" "75" "4688" "0" "4688" "0" "c.4688T>C" "r.(?)" "p.(Leu1563Pro)" "38" "Cadherin 15 (1529-1634)" "0000377348" "00000016" "75" "4688" "0" "4688" "0" "c.4688T>C" "r.(?)" "p.(Leu1563Pro)" "38" "Cadherin 15 (1529-1634)" "0000377349" "00000016" "75" "4688" "0" "4688" "0" "c.4688T>C" "r.(?)" "p.(Leu1563Pro)" "38" "Cadherin 15 (1529-1634)" "0000377350" "00000016" "75" "4688" "0" "4688" "0" "c.4688T>C" "r.(?)" "p.(Leu1563Pro)" "38" "Cadherin 15 (1529-1634)" "0000377351" "00000016" "75" "4688" "0" "4688" "0" "c.4688T>C" "r.(?)" "p.(Leu1563Pro)" "38" "Cadherin 15 (1529-1634)" "0000377352" "00000016" "75" "4688" "0" "4688" "0" "c.4688T>C" "r.(?)" "p.(Leu1563Pro)" "38" "Cadherin 15 (1529-1634)" "0000377353" "00000016" "75" "7990" "0" "7992" "0" "c.7990_7992del" "r.(?)" "p.(Phe2664del)" "56" "Cadherin 25 (2614-2722)" "0000377354" "00000016" "75" "7990" "0" "7992" "0" "c.7990_7992del" "r.(?)" "p.(Phe2664del)" "56" "Cadherin 25 (2614-2722)" "0000377355" "00000016" "75" "7990" "0" "7992" "0" "c.7990_7992del" "r.(?)" "p.(Phe2664del)" "56" "Cadherin 25 (2614-2722)" "0000377356" "00000016" "75" "7990" "0" "7992" "0" "c.7990_7992del" "r.(?)" "p.(Phe2664del)" "56" "Cadherin 25 (2614-2722)" "0000377357" "00000016" "75" "7990" "0" "7992" "0" "c.7990_7992del" "r.(?)" "p.(Phe2664del)" "56" "Cadherin 25 (2614-2722)" "0000377358" "00000016" "75" "7990" "0" "7992" "0" "c.7990_7992del" "r.(?)" "p.(Phe2664del)" "56" "Cadherin 25 (2614-2722)" "0000377359" "00000016" "75" "7990" "0" "7992" "0" "c.7990_7992del" "r.(?)" "p.(Phe2664del)" "56" "Cadherin 25 (2614-2722)" "0000377360" "00000016" "75" "7990" "0" "7992" "0" "c.7990_7992del" "r.(?)" "p.(Phe2664del)" "56" "Cadherin 25 (2614-2722)" "0000377361" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377362" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377363" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377364" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377365" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377366" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377367" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377368" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377369" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377370" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377371" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377372" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377373" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377374" "00000016" "75" "8530" "0" "8530" "0" "c.8530C>T" "r.(?)" "p.(Pro2844Ser)" "59" "Cadherin 26 (2729-2846)" "0000377375" "00000016" "75" "8531" "0" "8531" "0" "c.8531C>T" "r.(?)" "p.(Pro2844Leu)" "59" "Cadherin 26 (2729-2846)" "0000377376" "00000016" "75" "8531" "0" "8531" "0" "c.8531C>T" "r.(?)" "p.(Pro2844Leu)" "59" "Cadherin 26 (2729-2846)" "0000377377" "00000016" "75" "8531" "0" "8531" "0" "c.8531C>T" "r.(?)" "p.(Pro2844Leu)" "59" "Cadherin 26 (2729-2846)" "0000377378" "00000016" "75" "8531" "0" "8531" "0" "c.8531C>T" "r.(?)" "p.(Pro2844Leu)" "59" "Cadherin 26 (2729-2846)" "0000377379" "00000016" "75" "8531" "0" "8531" "0" "c.8531C>T" "r.(?)" "p.(Pro2844Leu)" "59" "Cadherin 26 (2729-2846)" "0000377380" "00000016" "75" "8531" "0" "8531" "0" "c.8531C>T" "r.(?)" "p.(Pro2844Leu)" "59" "Cadherin 26 (2729-2846)" "0000377381" "00000016" "75" "8531" "0" "8531" "0" "c.8531C>T" "r.(?)" "p.(Pro2844Leu)" "59" "Cadherin 26 (2729-2846)" "0000377382" "00000016" "75" "8531" "0" "8531" "0" "c.8531C>T" "r.(?)" "p.(Pro2844Leu)" "59" "Cadherin 26 (2729-2846)" "0000377383" "00000016" "99" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Gln372*)" "11" "Cadherin 4 (349-460)" "0000377384" "00000016" "99" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Gln372*)" "11" "Cadherin 4 (349-460)" "0000377385" "00000016" "99" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Gln372*)" "11" "Cadherin 4 (349-460)" "0000377386" "00000016" "99" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Gln372*)" "11" "Cadherin 4 (349-460)" "0000377387" "00000016" "99" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Gln372*)" "11" "Cadherin 4 (349-460)" "0000377388" "00000016" "99" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Gln372*)" "11" "Cadherin 4 (349-460)" "0000377389" "00000016" "99" "3106" "0" "3106" "11" "c.3106_3106+11delinsTGGT" "r.(?)" "p.?" "26" "Cadherin 10 (996-1102)" "0000377390" "00000016" "99" "3106" "0" "3106" "11" "c.3106_3106+11delinsTGGT" "r.(?)" "p.?" "26" "Cadherin 10 (996-1102)" "0000377391" "00000016" "99" "3106" "0" "3106" "11" "c.3106_3106+11delinsTGGT" "r.(?)" "p.?" "26" "Cadherin 10 (996-1102)" "0000377392" "00000016" "99" "3106" "0" "3106" "11" "c.3106_3106+11delinsTGGT" "r.(?)" "p.?" "26" "Cadherin 10 (996-1102)" "0000377393" "00000016" "99" "3106" "0" "3106" "11" "c.3106_3106+11delinsTGGT" "r.(?)" "p.?" "26" "Cadherin 10 (996-1102)" "0000377394" "00000016" "99" "3106" "0" "3106" "11" "c.3106_3106+11delinsTGGT" "r.(?)" "p.?" "26" "Cadherin 10 (996-1102)" "0000377395" "00000016" "99" "3106" "0" "3106" "11" "c.3106_3106+11delinsTGGT" "r.(?)" "p.?" "26" "Cadherin 10 (996-1102)" "0000377396" "00000016" "99" "3106" "0" "3106" "11" "c.3106_3106+11delinsTGGT" "r.(?)" "p.?" "26" "Cadherin 10 (996-1102)" "0000377397" "00000016" "99" "3106" "0" "3106" "11" "c.3106_3106+11delinsTGGT" "r.(?)" "p.?" "26" "Cadherin 10 (996-1102)" "0000377398" "00000016" "99" "3106" "0" "3106" "11" "c.3106_3106+11delinsTGGT" "r.(?)" "p.?" "26" "Cadherin 10 (996-1102)" "0000377399" "00000016" "99" "6050" "-1" "6050" "-1" "c.6050-1G>C" "r.spl" "p.?" "46i" "" "0000377400" "00000016" "99" "6050" "-1" "6050" "-1" "c.6050-1G>C" "r.spl" "p.?" "46i" "" "0000377401" "00000016" "99" "6050" "-1" "6050" "-1" "c.6050-1G>C" "r.spl" "p.?" "46i" "" "0000377402" "00000016" "99" "6050" "-1" "6050" "-1" "c.6050-1G>C" "r.spl" "p.?" "46i" "" "0000377403" "00000016" "99" "6050" "-1" "6050" "-1" "c.6050-1G>C" "r.spl" "p.?" "46i" "" "0000377404" "00000016" "99" "6050" "-1" "6050" "-1" "c.6050-1G>C" "r.spl" "p.?" "46i" "" "0000377405" "00000016" "99" "6050" "-1" "6050" "-1" "c.6050-1G>C" "r.spl" "p.?" "46i" "" "0000377406" "00000016" "99" "6050" "-1" "6050" "-1" "c.6050-1G>C" "r.spl" "p.?" "46i" "" "0000377407" "00000016" "99" "6050" "-1" "6050" "-1" "c.6050-1G>C" "r.spl" "p.?" "46i" "" "0000377408" "00000016" "99" "6050" "-1" "6050" "-1" "c.6050-1G>C" "r.spl" "p.?" "46i" "" "0000377409" "00000016" "99" "6050" "-1" "6050" "-1" "c.6050-1G>C" "r.spl" "p.?" "46i" "" "0000377410" "00000016" "99" "6050" "-1" "6050" "-1" "c.6050-1G>C" "r.spl" "p.?" "46i" "" "0000377411" "00000016" "99" "6054" "0" "6074" "0" "c.6054_6074del" "r.(?)" "p.(Val2019_Val2025del)" "47" "Cadherin 19 (1960-2069)" "0000377412" "00000016" "99" "6054" "0" "6074" "0" "c.6054_6074del" "r.(?)" "p.(Val2019_Val2025del)" "47" "Cadherin 19 (1960-2069)" "0000377413" "00000016" "99" "6054" "0" "6074" "0" "c.6054_6074del" "r.(?)" "p.(Val2019_Val2025del)" "47" "Cadherin 19 (1960-2069)" "0000377414" "00000016" "99" "6054" "0" "6074" "0" "c.6054_6074del" "r.(?)" "p.(Val2019_Val2025del)" "47" "Cadherin 19 (1960-2069)" "0000377415" "00000016" "99" "6054" "0" "6074" "0" "c.6054_6074del" "r.(?)" "p.(Val2019_Val2025del)" "47" "Cadherin 19 (1960-2069)" "0000377416" "00000016" "99" "6054" "0" "6074" "0" "c.6054_6074del" "r.(?)" "p.(Val2019_Val2025del)" "47" "Cadherin 19 (1960-2069)" "0000377417" "00000016" "99" "6845" "0" "6845" "0" "c.6845del" "r.(?)" "p.(Asn2282Thrfs*91)" "50" "Cadherin 21 (2175-2293)" "0000377418" "00000016" "99" "6845" "0" "6845" "0" "c.6845del" "r.(?)" "p.(Asn2282Thrfs*91)" "50" "Cadherin 21 (2175-2293)" "0000377419" "00000016" "99" "6845" "0" "6845" "0" "c.6845del" "r.(?)" "p.(Asn2282Thrfs*91)" "50" "Cadherin 21 (2175-2293)" "0000377420" "00000016" "99" "6845" "0" "6845" "0" "c.6845del" "r.(?)" "p.(Asn2282Thrfs*91)" "50" "Cadherin 21 (2175-2293)" "0000377421" "00000016" "99" "6845" "0" "6845" "0" "c.6845del" "r.(?)" "p.(Asn2282Thrfs*91)" "50" "Cadherin 21 (2175-2293)" "0000377422" "00000016" "99" "6845" "0" "6845" "0" "c.6845del" "r.(?)" "p.(Asn2282Thrfs*91)" "50" "Cadherin 21 (2175-2293)" "0000377423" "00000016" "75" "7198" "0" "7198" "0" "c.7198C>T" "r.(?)" "p.(Pro2400Ser)" "51" "Cadherin 22 (2297-2402)" "0000377424" "00000016" "75" "7198" "0" "7198" "0" "c.7198C>T" "r.(?)" "p.(Pro2400Ser)" "51" "Cadherin 22 (2297-2402)" "0000377425" "00000016" "75" "7198" "0" "7198" "0" "c.7198C>T" "r.(?)" "p.(Pro2400Ser)" "51" "Cadherin 22 (2297-2402)" "0000377426" "00000016" "75" "7198" "0" "7198" "0" "c.7198C>T" "r.(?)" "p.(Pro2400Ser)" "51" "Cadherin 22 (2297-2402)" "0000377427" "00000016" "75" "7198" "0" "7198" "0" "c.7198C>T" "r.(?)" "p.(Pro2400Ser)" "51" "Cadherin 22 (2297-2402)" "0000377428" "00000016" "75" "7198" "0" "7198" "0" "c.7198C>T" "r.(?)" "p.(Pro2400Ser)" "51" "Cadherin 22 (2297-2402)" "0000377429" "00000016" "75" "7198" "0" "7198" "0" "c.7198C>T" "r.(?)" "p.(Pro2400Ser)" "51" "Cadherin 22 (2297-2402)" "0000377430" "00000016" "75" "7198" "0" "7198" "0" "c.7198C>T" "r.(?)" "p.(Pro2400Ser)" "51" "Cadherin 22 (2297-2402)" "0000377431" "00000016" "75" "8150" "0" "8150" "0" "c.8150A>G" "r.(?)" "p.(Asp2717Gly)" "57" "Cadherin 25 (2614-2722)" "0000377432" "00000016" "75" "8150" "0" "8150" "0" "c.8150A>G" "r.(?)" "p.(Asp2717Gly)" "57" "Cadherin 25 (2614-2722)" "0000377433" "00000016" "75" "8150" "0" "8150" "0" "c.8150A>G" "r.(?)" "p.(Asp2717Gly)" "57" "Cadherin 25 (2614-2722)" "0000377434" "00000016" "75" "8150" "0" "8150" "0" "c.8150A>G" "r.(?)" "p.(Asp2717Gly)" "57" "Cadherin 25 (2614-2722)" "0000377435" "00000016" "75" "8150" "0" "8150" "0" "c.8150A>G" "r.(?)" "p.(Asp2717Gly)" "57" "Cadherin 25 (2614-2722)" "0000377436" "00000016" "75" "8150" "0" "8150" "0" "c.8150A>G" "r.(?)" "p.(Asp2717Gly)" "57" "Cadherin 25 (2614-2722)" "0000377437" "00000016" "99" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737Alafs*2)" "58" "Cadherin 26 (2729-2846)" "0000377438" "00000016" "99" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737Alafs*2)" "58" "Cadherin 26 (2729-2846)" "0000377439" "00000016" "99" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737Alafs*2)" "58" "Cadherin 26 (2729-2846)" "0000377440" "00000016" "99" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737Alafs*2)" "58" "Cadherin 26 (2729-2846)" "0000377441" "00000016" "99" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737Alafs*2)" "58" "Cadherin 26 (2729-2846)" "0000377442" "00000016" "99" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737Alafs*2)" "58" "Cadherin 26 (2729-2846)" "0000377443" "00000016" "99" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737Alafs*2)" "58" "Cadherin 26 (2729-2846)" "0000377444" "00000016" "99" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737Alafs*2)" "58" "Cadherin 26 (2729-2846)" "0000377445" "00000016" "99" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737Alafs*2)" "58" "Cadherin 26 (2729-2846)" "0000377446" "00000016" "99" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737Alafs*2)" "58" "Cadherin 26 (2729-2846)" "0000377447" "00000016" "99" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737Alafs*2)" "58" "Cadherin 26 (2729-2846)" "0000377448" "00000016" "99" "8208" "0" "8209" "0" "c.8208_8209del" "r.(?)" "p.(Val2737Alafs*2)" "58" "Cadherin 26 (2729-2846)" "0000377449" "00000016" "99" "8917" "0" "8917" "0" "c.8917G>T" "r.(?)" "p.(Glu2973*)" "61" "Cadherin 27 (2847-2975)" "0000377450" "00000016" "99" "8917" "0" "8917" "0" "c.8917G>T" "r.(?)" "p.(Glu2973*)" "61" "Cadherin 27 (2847-2975)" "0000377451" "00000016" "75" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Glu1006Lys)" "26" "Cadherin 10 (996-1102)" "0000377452" "00000016" "75" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Glu1006Lys)" "26" "Cadherin 10 (996-1102)" "0000377453" "00000016" "75" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Glu1006Lys)" "26" "Cadherin 10 (996-1102)" "0000377454" "00000016" "75" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Glu1006Lys)" "26" "Cadherin 10 (996-1102)" "0000377455" "00000016" "75" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Glu1006Lys)" "26" "Cadherin 10 (996-1102)" "0000377456" "00000016" "75" "4662" "0" "4662" "0" "c.4662C>A" "r.(?)" "p.(Asp1554Glu)" "38" "Cadherin 15 (1529-1634)" "0000377457" "00000016" "75" "4662" "0" "4662" "0" "c.4662C>A" "r.(?)" "p.(Asp1554Glu)" "38" "Cadherin 15 (1529-1634)" "0000377458" "00000016" "75" "5663" "0" "5663" "0" "c.5663T>C" "r.(?)" "p.(Phe1888Ser)" "43" "Cadherin 18 (1852-1959)" "0000377459" "00000016" "75" "5663" "0" "5663" "0" "c.5663T>C" "r.(?)" "p.(Phe1888Ser)" "43" "Cadherin 18 (1852-1959)" "0000377460" "00000016" "75" "5663" "0" "5663" "0" "c.5663T>C" "r.(?)" "p.(Phe1888Ser)" "43" "Cadherin 18 (1852-1959)" "0000377461" "00000016" "75" "5663" "0" "5663" "0" "c.5663T>C" "r.(?)" "p.(Phe1888Ser)" "43" "Cadherin 18 (1852-1959)" "0000377462" "00000016" "75" "5663" "0" "5663" "0" "c.5663T>C" "r.(?)" "p.(Phe1888Ser)" "43" "Cadherin 18 (1852-1959)" "0000377463" "00000016" "75" "5663" "0" "5663" "0" "c.5663T>C" "r.(?)" "p.(Phe1888Ser)" "43" "Cadherin 18 (1852-1959)" "0000377464" "00000016" "75" "5663" "0" "5663" "0" "c.5663T>C" "r.(?)" "p.(Phe1888Ser)" "43" "Cadherin 18 (1852-1959)" "0000377465" "00000016" "75" "5663" "0" "5663" "0" "c.5663T>C" "r.(?)" "p.(Phe1888Ser)" "43" "Cadherin 18 (1852-1959)" "0000377466" "00000016" "75" "5663" "0" "5663" "0" "c.5663T>C" "r.(?)" "p.(Phe1888Ser)" "43" "Cadherin 18 (1852-1959)" "0000377467" "00000016" "75" "5663" "0" "5663" "0" "c.5663T>C" "r.(?)" "p.(Phe1888Ser)" "43" "Cadherin 18 (1852-1959)" "0000377468" "00000016" "75" "5663" "0" "5663" "0" "c.5663T>C" "r.(?)" "p.(Phe1888Ser)" "43" "Cadherin 18 (1852-1959)" "0000377469" "00000016" "99" "8883" "0" "8883" "0" "c.8883dup" "r.(?)" "p.(Asn2962*)" "61" "Cadherin 27 (2847-2975)" "0000377470" "00000016" "99" "288" "1" "288" "1" "c.288+1G>C" "r.spl" "p.?" "4i" "" "0000377471" "00000016" "99" "7660" "1" "7660" "1" "c.7660+1G>T" "r.spl" "p.?" "54i" "" "0000377472" "00000016" "99" "2008" "0" "2008" "0" "c.2008dup" "r.(?)" "p.(Thr670Asnfs*66)" "19" "Cadherin 6 (562-671)" "0000377473" "00000016" "99" "2008" "0" "2008" "0" "c.2008dup" "r.(?)" "p.(Thr670Asnfs*66)" "19" "Cadherin 6 (562-671)" "0000377474" "00000016" "75" "3407" "0" "3407" "0" "c.3407G>A" "r.(?)" "p.(Arg1136His)" "29" "Cadherin 11 (1103-1208)" "0000377475" "00000016" "75" "3074" "0" "3074" "0" "c.3074G>A" "r.(?)" "p.(Gly1025Asp)" "26" "Cadherin 10 (996-1102)" "0000377476" "00000016" "15" "5419" "0" "5419" "0" "c.5419G>A" "r.(?)" "p.(Val1807Met)" "42" "Cadherin 17 (1745-1851)" "0000377477" "00000016" "15" "5419" "0" "5419" "0" "c.5419G>A" "r.(?)" "p.(Val1807Met)" "42" "Cadherin 17 (1745-1851)" "0000377478" "00000016" "15" "5419" "0" "5419" "0" "c.5419G>A" "r.(?)" "p.(Val1807Met)" "42" "Cadherin 17 (1745-1851)" "0000377479" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377480" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377481" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377482" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377483" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377484" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377485" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377486" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377487" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377488" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377489" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377490" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377491" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377492" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377493" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377494" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377495" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377496" "00000016" "75" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "56" "Cadherin 25 (2614-2722)" "0000377497" "00000016" "75" "5527" "0" "5527" "0" "c.5527G>T" "r.(?)" "p.(Asp1843Tyr)" "43" "Cadherin 17 (1745-1851)" "0000377498" "00000016" "75" "5527" "0" "5527" "0" "c.5527G>T" "r.(?)" "p.(Asp1843Tyr)" "43" "Cadherin 17 (1745-1851)" "0000377499" "00000016" "75" "5527" "0" "5527" "0" "c.5527G>T" "r.(?)" "p.(Asp1843Tyr)" "43" "Cadherin 17 (1745-1851)" "0000377500" "00000016" "75" "5527" "0" "5527" "0" "c.5527G>T" "r.(?)" "p.(Asp1843Tyr)" "43" "Cadherin 17 (1745-1851)" "0000377501" "00000016" "75" "4249" "0" "4249" "0" "c.4249C>T" "r.(?)" "p.(Arg1417Trp)" "35" "Cadherin 13 (1314-1418)" "0000377502" "00000016" "75" "4249" "0" "4249" "0" "c.4249C>T" "r.(?)" "p.(Arg1417Trp)" "35" "Cadherin 13 (1314-1418)" "0000377503" "00000016" "75" "4249" "0" "4249" "0" "c.4249C>T" "r.(?)" "p.(Arg1417Trp)" "35" "Cadherin 13 (1314-1418)" "0000377504" "00000016" "75" "4249" "0" "4249" "0" "c.4249C>T" "r.(?)" "p.(Arg1417Trp)" "35" "Cadherin 13 (1314-1418)" "0000377505" "00000016" "35" "5131" "0" "5131" "0" "c.5131G>A" "r.(?)" "p.(Val1711Ile)" "40" "Cadherin 16 (1635-1744)" "0000377506" "00000016" "35" "5131" "0" "5131" "0" "c.5131G>A" "r.(?)" "p.(Val1711Ile)" "40" "Cadherin 16 (1635-1744)" "0000377507" "00000016" "35" "5627" "0" "5627" "0" "c.5627G>A" "r.(?)" "p.(Ser1876Asn)" "43" "Cadherin 18 (1852-1959)" "0000377508" "00000016" "15" "5722" "0" "5722" "0" "c.5722G>A" "r.(?)" "p.(Val1908Ile)" "44" "Cadherin 18 (1852-1959)" "0000377509" "00000016" "35" "6511" "0" "6511" "0" "c.6511C>T" "r.(?)" "p.(Arg2171Cys)" "48" "Cadherin 20 (2070-2174)" "0000377510" "00000016" "35" "6680" "0" "6680" "0" "c.6680A>C" "r.(?)" "p.(Gln2227Pro)" "48" "Cadherin 21 (2175-2293)" "0000377511" "00000016" "75" "7418" "0" "7418" "0" "c.7418T>C" "r.(?)" "p.(Leu2473Pro)" "53" "Cadherin 23 (2403-2509)" "0000377512" "00000016" "75" "7466" "0" "7466" "0" "c.7466G>A" "r.(?)" "p.(Arg2489His)" "53" "Cadherin 23 (2403-2509)" "0000377513" "00000016" "35" "8005" "0" "8005" "0" "c.8005A>G" "r.(?)" "p.(Ile2669Val)" "56" "Cadherin 25 (2614-2722)" "0000377514" "00000016" "33" "8401" "0" "8401" "0" "c.8401T>G" "r.(?)" "p.(Phe2801Val)" "59" "Cadherin 26 (2729-2846)" "0000377515" "00000016" "15" "8401" "0" "8401" "0" "c.8401T>G" "r.(?)" "p.(Phe2801Val)" "59" "Cadherin 26 (2729-2846)" "0000377516" "00000016" "15" "8401" "0" "8401" "0" "c.8401T>G" "r.(?)" "p.(Phe2801Val)" "59" "Cadherin 26 (2729-2846)" "0000377517" "00000016" "75" "9523" "0" "9523" "0" "c.9523C>T" "r.(?)" "p.(Arg3175Cys)" "68" "Cytoplasmic (3086-3354)" "0000377518" "00000016" "75" "4103" "0" "4103" "0" "c.4103C>T" "r.(?)" "p.(Thr1368Met)" "32" "Cadherin 13 (1314-1418)" "0000377519" "00000016" "75" "4877" "0" "4877" "0" "c.4877A>C" "r.(?)" "p.(Asp1626Ala)" "39" "Cadherin 15 (1529-1634)" "0000377520" "00000016" "75" "4877" "0" "4877" "0" "c.4877A>C" "r.(?)" "p.(Asp1626Ala)" "39" "Cadherin 15 (1529-1634)" "0000377521" "00000016" "75" "4877" "0" "4877" "0" "c.4877A>C" "r.(?)" "p.(Asp1626Ala)" "39" "Cadherin 15 (1529-1634)" "0000377522" "00000016" "75" "2866" "0" "2866" "0" "c.2866G>A" "r.(?)" "p.(Glu956Lys)" "25" "Cadherin 9 (891-995)" "0000377523" "00000016" "75" "2866" "0" "2866" "0" "c.2866G>A" "r.(?)" "p.(Glu956Lys)" "25" "Cadherin 9 (891-995)" "0000377524" "00000016" "75" "6861" "0" "6861" "0" "c.6861T>G" "r.(?)" "p.(Asn2287Lys)" "50" "Cadherin 21 (2175-2293)" "0000377525" "00000016" "75" "6861" "0" "6861" "0" "c.6861T>G" "r.(?)" "p.(Asn2287Lys)" "50" "Cadherin 21 (2175-2293)" "0000377526" "00000016" "75" "7312" "0" "7312" "0" "c.7312G>A" "r.(?)" "p.(Glu2438Lys)" "52" "Cadherin 23 (2403-2509)" "0000377527" "00000016" "75" "7312" "0" "7312" "0" "c.7312G>A" "r.(?)" "p.(Glu2438Lys)" "52" "Cadherin 23 (2403-2509)" "0000377528" "00000016" "75" "7312" "0" "7312" "0" "c.7312G>A" "r.(?)" "p.(Glu2438Lys)" "52" "Cadherin 23 (2403-2509)" "0000377529" "00000016" "99" "7221" "0" "7221" "0" "c.7221C>A" "r.(?)" "p.(Tyr2407*)" "51" "Cadherin 23 (2403-2509)" "0000377530" "00000016" "99" "7221" "0" "7221" "0" "c.7221C>A" "r.(?)" "p.(Tyr2407*)" "51" "Cadherin 23 (2403-2509)" "0000377531" "00000016" "75" "9904" "0" "9904" "0" "c.9904G>A" "r.(?)" "p.(Glu3302Lys)" "70" "Cytoplasmic (3086-3354)" "0000377532" "00000016" "95" "9278" "5" "9278" "5" "c.9278+5G>C" "r.spl?" "p.?" "64i" "" "0000377533" "00000016" "95" "9278" "5" "9278" "5" "c.9278+5G>C" "r.spl?" "p.?" "64i" "" "0000377534" "00000016" "99" "5015" "0" "5016" "0" "c.5015_5016del" "r.(?)" "p.(Tyr1672Cysfs*64)" "39" "Cadherin 16 (1635-1744)" "0000377535" "00000016" "99" "5015" "0" "5016" "0" "c.5015_5016del" "r.(?)" "p.(Tyr1672Cysfs*64)" "39" "Cadherin 16 (1635-1744)" "0000377536" "00000016" "99" "6829" "1" "6829" "1" "c.6829+1G>A" "r.spl" "p.?" "49i" "" "0000377537" "00000016" "99" "6829" "1" "6829" "1" "c.6829+1G>A" "r.spl" "p.?" "49i" "" "0000377538" "00000016" "99" "6829" "1" "6829" "1" "c.6829+1G>A" "r.spl" "p.?" "49i" "" "0000377539" "00000016" "99" "6829" "1" "6829" "1" "c.6829+1G>A" "r.spl" "p.?" "49i" "" "0000377540" "00000016" "15" "4891" "0" "4891" "0" "c.4891G>A" "r.(?)" "p.(Ala1631Thr)" "39" "Cadherin 15 (1529-1634)" "0000377541" "00000016" "35" "9319" "0" "9319" "0" "c.9319G>T" "r.(?)" "p.(Gly3107Trp)" "65" "Cytoplasmic (3086-3354)" "0000377542" "00000016" "75" "3995" "0" "3995" "0" "c.3995T>G" "r.(?)" "p.(Ile1332Ser)" "32" "Cadherin 13 (1314-1418)" "0000377543" "00000016" "75" "4105" "-2" "4105" "-2" "c.4105-2A>T" "r.spl" "p.?" "32i" "" "0000377544" "00000016" "15" "4105" "-4" "4105" "-4" "c.4105-4G>T" "r.spl?" "p.?" "32i" "" "0000377545" "00000016" "35" "4858" "0" "4858" "0" "c.4858G>A" "r.(?)" "p.(Val1620Met)" "39" "Cadherin 15 (1529-1634)" "0000377546" "00000016" "35" "4858" "0" "4858" "0" "c.4858G>A" "r.(?)" "p.(Val1620Met)" "39" "Cadherin 15 (1529-1634)" "0000377547" "00000016" "15" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Val86Met)" "4" "Cadherin 1 (34-132)" "0000377548" "00000016" "75" "2752" "0" "2752" "0" "c.2752G>C" "r.(?)" "p.(Asp918His)" "25" "Cadherin 9 (891-995)" "0000377549" "00000016" "75" "6606" "0" "6606" "0" "c.6606C>A" "r.(?)" "p.(Asp2202Glu)" "48" "Cadherin 21 (2175-2293)" "0000377550" "00000016" "75" "6606" "0" "6606" "0" "c.6606C>A" "r.(?)" "p.(Asp2202Glu)" "48" "Cadherin 21 (2175-2293)" "0000377551" "00000016" "15" "7630" "0" "7630" "0" "c.7630T>G" "r.(?)" "p.(Leu2544Val)" "54" "Cadherin 24 (2510-2611)" "0000377552" "00000016" "75" "8257" "0" "8257" "0" "c.8257G>A" "r.(?)" "p.(Ala2753Thr)" "58" "Cadherin 26 (2729-2846)" "0000377553" "00000016" "99" "193" "0" "193" "0" "c.193dup" "r.(=)" "p.(Leu65Profs*19)" "4" "Cadherin 1 (34-132)" "0000377554" "00000016" "99" "193" "0" "193" "0" "c.193dup" "r.(=)" "p.(Leu65Profs*19)" "4" "Cadherin 1 (34-132)" "0000377555" "00000016" "99" "193" "0" "193" "0" "c.193dup" "r.(=)" "p.(Leu65Profs*19)" "4" "Cadherin 1 (34-132)" "0000377556" "00000016" "99" "193" "0" "193" "0" "c.193dup" "r.(=)" "p.(Leu65Profs*19)" "4" "Cadherin 1 (34-132)" "0000377557" "00000016" "35" "415" "0" "415" "0" "c.415G>A" "r.(=)" "p.(Val139Ile)" "6" "Cadherin 2 (133-236)" "0000377558" "00000016" "35" "415" "0" "415" "0" "c.415G>A" "r.(=)" "p.(Val139Ile)" "6" "Cadherin 2 (133-236)" "0000377559" "00000016" "35" "7580" "0" "7580" "0" "c.7580C>T" "r.(=)" "p.(Ser2527Leu)" "54" "Cadherin 24 (2510-2611)" "0000377560" "00000016" "35" "7580" "0" "7580" "0" "c.7580C>T" "r.(=)" "p.(Ser2527Leu)" "54" "Cadherin 24 (2510-2611)" "0000377561" "00000016" "75" "2752" "0" "2752" "0" "c.2752G>A" "r.(=)" "p.(Asp918Asn)" "25" "Cadherin 9 (891-995)" "0000377562" "00000016" "75" "2752" "0" "2752" "0" "c.2752G>A" "r.(=)" "p.(Asp918Asn)" "25" "Cadherin 9 (891-995)" "0000377563" "00000016" "75" "2752" "0" "2752" "0" "c.2752G>A" "r.(=)" "p.(Asp918Asn)" "25" "Cadherin 9 (891-995)" "0000377564" "00000016" "75" "2752" "0" "2752" "0" "c.2752G>A" "r.(=)" "p.(Asp918Asn)" "25" "Cadherin 9 (891-995)" "0000377565" "00000016" "75" "5101" "0" "5101" "0" "c.5101G>A" "r.(=)" "p.(Glu1701Lys)" "40" "Cadherin 16 (1635-1744)" "0000377566" "00000016" "75" "5101" "0" "5101" "0" "c.5101G>A" "r.(=)" "p.(Glu1701Lys)" "40" "Cadherin 16 (1635-1744)" "0000377567" "00000016" "75" "5101" "0" "5101" "0" "c.5101G>A" "r.(=)" "p.(Glu1701Lys)" "40" "Cadherin 16 (1635-1744)" "0000377568" "00000016" "75" "5101" "0" "5101" "0" "c.5101G>A" "r.(=)" "p.(Glu1701Lys)" "40" "Cadherin 16 (1635-1744)" "0000377569" "00000016" "75" "429" "4" "429" "4" "c.429+4G>A" "r.spl?" "p.?" "6i" "" "0000377570" "00000016" "75" "429" "4" "429" "4" "c.429+4G>A" "r.spl?" "p.?" "6i" "" "0000377571" "00000016" "99" "3567" "0" "3567" "0" "c.3567del" "r.(?)" "p.(Ser1190AlafsTer5)" "30" "Cadherin 11 (1103-1208)" "0000377572" "00000016" "99" "3567" "0" "3567" "0" "c.3567del" "r.(?)" "p.(Ser1190AlafsTer5)" "30" "Cadherin 11 (1103-1208)" "0000377573" "00000016" "99" "5780" "0" "5781" "0" "c.5780_5781del" "r.(?)" "p.(Ser1927Cysfs*16)" "44" "Cadherin 18 (1852-1959)" "0000377574" "00000016" "35" "2568" "0" "2568" "0" "c.2568C>G" "r.(?)" "p.(Ile856Met)" "23" "Cadherin 8 (779-890)" "0000377575" "00000016" "11" "3369" "298" "3369" "298" "c.3369+298C>G" "r.(=)" "p.(=)" "28i" "" "0000377576" "00000016" "11" "3369" "312" "3369" "312" "c.3369+312C>T" "r.(=)" "p.(=)" "28i" "" "0000377577" "00000016" "99" "8803" "0" "8803" "0" "c.8803C>T" "r.(?)" "p.(Arg2935*)" "61" "Cadherin 27 (2847-2975)" "0000377578" "00000016" "99" "8803" "0" "8803" "0" "c.8803C>T" "r.(?)" "p.(Arg2935*)" "61" "Cadherin 27 (2847-2975)" "0000377579" "00000016" "99" "8803" "0" "8803" "0" "c.8803C>T" "r.(?)" "p.(Arg2935*)" "61" "Cadherin 27 (2847-2975)" "0000377580" "00000016" "99" "8803" "0" "8803" "0" "c.8803C>T" "r.(?)" "p.(Arg2935*)" "61" "Cadherin 27 (2847-2975)" "0000377581" "00000016" "75" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Pro346Ser)" "11" "Cadherin 3 (237-348)" "0000377582" "00000016" "75" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Pro346Ser)" "11" "Cadherin 3 (237-348)" "0000377583" "00000016" "75" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Pro346Ser)" "11" "Cadherin 3 (237-348)" "0000377584" "00000016" "75" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Pro346Ser)" "11" "Cadherin 3 (237-348)" "0000377585" "00000016" "75" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Pro346Ser)" "11" "Cadherin 3 (237-348)" "0000377586" "00000016" "75" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Pro346Ser)" "11" "Cadherin 3 (237-348)" "0000377587" "00000016" "75" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Pro346Ser)" "11" "Cadherin 3 (237-348)" "0000377588" "00000016" "75" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Pro346Ser)" "11" "Cadherin 3 (237-348)" "0000377589" "00000016" "75" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Pro346Ser)" "11" "Cadherin 3 (237-348)" "0000377590" "00000016" "75" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Pro346Ser)" "11" "Cadherin 3 (237-348)" "0000377591" "00000016" "75" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Pro559Ser)" "16" "Cadherin 5 (461-561)" "0000377592" "00000016" "75" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Pro559Ser)" "16" "Cadherin 5 (461-561)" "0000377593" "00000016" "75" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Pro559Ser)" "16" "Cadherin 5 (461-561)" "0000377594" "00000016" "75" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Pro559Ser)" "16" "Cadherin 5 (461-561)" "0000377595" "00000016" "75" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Pro559Ser)" "16" "Cadherin 5 (461-561)" "0000377596" "00000016" "75" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Pro559Ser)" "16" "Cadherin 5 (461-561)" "0000377597" "00000016" "75" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Pro559Ser)" "16" "Cadherin 5 (461-561)" "0000377598" "00000016" "75" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Pro559Ser)" "16" "Cadherin 5 (461-561)" "0000377599" "00000016" "75" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Pro346Leu)" "11" "Cadherin 3 (237-348)" "0000377600" "00000016" "75" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Pro346Leu)" "11" "Cadherin 3 (237-348)" "0000377601" "00000016" "75" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Pro346Leu)" "11" "Cadherin 3 (237-348)" "0000377602" "00000016" "75" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Pro346Leu)" "11" "Cadherin 3 (237-348)" "0000377603" "00000016" "75" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Pro346Leu)" "11" "Cadherin 3 (237-348)" "0000377604" "00000016" "75" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Pro346Leu)" "11" "Cadherin 3 (237-348)" "0000377605" "00000016" "75" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Gly291Arg)" "10" "Cadherin 3 (237-348)" "0000377606" "00000016" "75" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Gly291Arg)" "10" "Cadherin 3 (237-348)" "0000377607" "00000016" "75" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Gly291Arg)" "10" "Cadherin 3 (237-348)" "0000377608" "00000016" "99" "3370" "-1" "3430" "1" "c.(3369+1_3370-1)_(3430+1_3431-1)dup" "r.(?)" "p.(?)" "28i_29i" "Cadherin 11 (1103-1208)" "0000377609" "00000016" "75" "9569" "0" "9569" "0" "c.9569C>T" "r.(?)" "p.(Ala3190Val)" "68" "Cytoplasmic (3086-3354)" "0000377610" "00000016" "99" "5068" "-2" "5068" "-2" "c.5068-2A>T" "r.spl" "p.?" "39i" "" "0000377611" "00000016" "35" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Val475Met)" "14" "Cadherin 5 (461-561)" "0000377612" "00000016" "35" "2939" "0" "2939" "0" "c.2939C>T" "r.(?)" "p.(Thr980Met)" "25" "Cadherin 9 (891-995)" "0000377613" "00000016" "35" "2939" "0" "2939" "0" "c.2939C>T" "r.(?)" "p.(Thr980Met)" "25" "Cadherin 9 (891-995)" "0000377614" "00000016" "99" "2630" "0" "2633" "0" "c.2630_2633del" "r.(?)" "p.(Phe877*)" "24" "Cadherin 8 (779-890)" "0000377615" "00000016" "99" "2630" "0" "2633" "0" "c.2630_2633del" "r.(?)" "p.(Phe877*)" "24" "Cadherin 8 (779-890)" "0000377616" "00000016" "75" "7999" "0" "7999" "0" "c.7999G>C" "r.(?)" "p.(Asp2667His)" "56" "Cadherin 25 (2614-2722)" "0000377617" "00000016" "99" "7225" "-2" "7225" "-2" "c.7225-2A>G" "r.spl" "p.?" "51i" "" "0000377618" "00000016" "99" "7225" "-2" "7225" "-2" "c.7225-2A>G" "r.spl" "p.?" "51i" "" "0000377619" "00000016" "35" "3986" "0" "3986" "0" "c.3986G>A" "r.(?)" "p.(Gly1329Asp)" "32" "Cadherin 13 (1314-1418)" "0000377620" "00000016" "99" "7871" "0" "7872" "0" "c.7871_7872del" "r.(?)" "p.(Glu2624Glyfs*18)" "55" "Cadherin 25 (2614-2722)" "0000377621" "00000016" "99" "7871" "0" "7872" "0" "c.7871_7872del" "r.(?)" "p.(Glu2624Glyfs*18)" "55" "Cadherin 25 (2614-2722)" "0000377622" "00000016" "75" "145" "6" "145" "6" "c.145+6T>G" "r.(?)" "p.(?)" "3i" "" "0000377623" "00000016" "99" "913" "0" "913" "0" "c.913del" "r.(?)" "p.(Leu305Cysfs*8)" "10" "Cadherin 3 (237-348)" "0000377624" "00000016" "99" "934" "0" "934" "0" "c.934del" "r.(?)" "p.(Leu312*)" "10" "Cadherin 3 (237-348)" "0000377625" "00000016" "99" "2425" "0" "2425" "0" "c.2425G>T" "r.(?)" "p.(Glu809*)" "23" "Cadherin 8 (779-890)" "0000377626" "00000016" "99" "2561" "0" "2561" "0" "c.2561del" "r.(?)" "p.(Arg854Profs*15)" "23" "Cadherin 8 (779-890)" "0000377627" "00000016" "99" "3655" "0" "3655" "0" "c.3655C>T" "r.(?)" "p.(Arg1219*)" "31" "Cadherin 12 (1210-1313)" "0000377628" "00000016" "35" "-35" "0" "-31" "0" "c.-35_-31dup" "r.(?)" "p.(?)" "1" "" "0000377629" "00000016" "35" "8561" "-19" "8561" "-19" "c.8561-19C>T" "r.(?)" "p.(?)" "59i" "" "0000377630" "00000016" "75" "1616" "0" "1616" "0" "c.1616G>A" "r.(?)" "p.(Gly539Asp)" "16" "Cadherin 5 (461-561)" "0000377631" "00000016" "75" "1934" "0" "1934" "0" "c.1934A>G" "r.(?)" "p.(Asp645Gly)" "18" "Cadherin 6 (562-671)" "0000377632" "00000016" "99" "6667" "0" "6667" "0" "c.6667del" "r.(?)" "p.(Leu2223Trpfs*11)" "48" "Cadherin 21 (2175-2293)" "0000377633" "00000016" "99" "6667" "0" "6667" "0" "c.6667del" "r.(?)" "p.(Leu2223Trpfs*11)" "48" "Cadherin 21 (2175-2293)" "0000377634" "00000016" "99" "9129" "0" "9129" "0" "c.9129del" "r.(?)" "p.(Asn3044Thrfs*43)" "63" "" "0000377635" "00000016" "99" "9129" "0" "9129" "0" "c.9129del" "r.(?)" "p.(Asn3044Thrfs*43)" "63" "" "0000377636" "00000016" "75" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Arg)" "7" "Cadherin 2 (133-236)" "0000377637" "00000016" "75" "9199" "-4" "9199" "-4" "c.9199-4G>A" "r.(?)" "p.(?)" "63i" "" "0000377638" "00000016" "35" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Val424Met)" "13" "Cadherin 4 (349-460)" "0000377639" "00000016" "35" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Asp428Asn)" "13" "Cadherin 4 (349-460)" "0000377640" "00000016" "35" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Asp428Asn)" "13" "Cadherin 4 (349-460)" "0000377641" "00000016" "35" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Asp428Asn)" "13" "Cadherin 4 (349-460)" "0000377642" "00000016" "35" "10027" "0" "10027" "0" "c.10027G>A" "r.(?)" "p.(Val3343Met)" "70" "Cytoplasmic (3086-3354)" "0000377643" "00000016" "35" "4216" "0" "4216" "0" "c.4216A>G" "r.(?)" "p.(Ile1406Val)" "35" "Cadherin 13 (1314-1418)" "0000377644" "00000016" "75" "4747" "0" "4747" "0" "c.4747G>A" "r.(?)" "p.(Gly1583Ser)" "38" "Cadherin 15 (1529-1634)" "0000377645" "00000016" "75" "5395" "0" "5395" "0" "c.5395G>T" "r.(?)" "p.(Gly1799Trp)" "42" "Cadherin 17 (1745-1851)" "0000377646" "00000016" "75" "8149" "0" "8149" "0" "c.8149G>A" "r.(?)" "p.(Asp2717Asn)" "57" "Cadherin 25 (2614-2722)" "0000377647" "00000016" "75" "68" "-3" "68" "-3" "c.68-3C>T" "r.(?)" "p.(?)" "2i" "" "0000377648" "00000016" "35" "625" "-5" "625" "-5" "c.625-5C>T" "r.(?)" "p.(?)" "7i" "" "0000377649" "00000016" "99" "1135" "-1" "1135" "-1" "c.1135-1G>T" "r.spl" "p.?" "11i" "" "0000377650" "00000016" "35" "7362" "10" "7362" "10" "c.7362+10G>A" "r.(?)" "p.(?)" "52i" "" "0000377651" "00000016" "75" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(Asn342Ser)" "11" "Cadherin 3 (237-348)" "0000377652" "00000016" "75" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(Asn342Ser)" "11" "Cadherin 3 (237-348)" "0000377653" "00000016" "99" "798" "0" "798" "0" "c.798del" "r.(?)" "p.(Arg267Valfs*27)" "9" "Cadherin 3 (237-348)" "0000377654" "00000016" "35" "2891" "0" "2891" "0" "c.2891G>A" "r.(?)" "p.(Arg964Gln)" "25" "Cadherin 9 (891-995)" "0000377655" "00000016" "35" "3352" "0" "3352" "0" "c.3352G>A" "r.(?)" "p.(Gly1118Ser)" "28" "Cadherin 11 (1103-1208)" "0000377656" "00000016" "99" "9233" "0" "9234" "0" "c.9233_9234del" "r.(?)" "p.(Leu3078Argfs*41)" "64" "" "0000377657" "00000016" "99" "430" "-1" "832" "1" "c.(429+1_430-1)_(832+1_833-1)dup" "r.(?)" "p.(?)" "6i_9i" "Cadherin 2 (133-236);Cadherin 3 (237-348)" "0000377658" "00000016" "99" "2566" "0" "2566" "0" "c.2566dup" "r.(?)" "p.(Ile856Asnfs*7)" "23" "Cadherin 8 (779-890)" "0000377659" "00000016" "99" "289" "-1" "336" "1" "c.(288+1_289-1)_(336+1_337-1)del" "r.(?)" "p.(?)" "4i_5i" "Cadherin 1 (34-132)" "0000377660" "00000016" "99" "1152" "0" "1152" "0" "c.1152C>A" "r.(?)" "p.(Ser384Arg)" "13" "Cadherin 4 (349-460)" "0000377661" "00000016" "99" "1152" "0" "1152" "0" "c.1152C>A" "r.(?)" "p.(Ser384Arg)" "13" "Cadherin 4 (349-460)" "0000377662" "00000016" "99" "3821" "0" "3821" "0" "c.3821A>T" "r.(?)" "p.(Glu1274Val)" "32" "Cadherin 12 (1210-1313)" "0000377663" "00000016" "99" "3821" "0" "3821" "0" "c.3821A>T" "r.(?)" "p.(Glu1274Val)" "32" "Cadherin 12 (1210-1313)" "0000377664" "00000016" "99" "5292" "0" "5292" "0" "c.5292G>A" "r.(?)" "p.(Trp1764*)" "41" "Cadherin 17 (1745-1851)" "0000377665" "00000016" "99" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Asp160Asn)" "7" "Cadherin 2 (133-236)" "0000377666" "00000016" "99" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Asp160Asn)" "7" "Cadherin 2 (133-236)" "0000377667" "00000016" "99" "6396" "0" "6396" "0" "c.6396del" "r.(?)" "p.(Ile2132Metfs*11)" "48" "Cadherin 20 (2070-2174)" "0000377668" "00000016" "99" "337" "-1" "1290" "1" "c.(336+1_337-1)_(1290+1_1291-1)dup" "r.?" "p.?" "5i_13i" "Cadherin 1 (34-132);Cadherin 2 (133-236);Cadherin 3 (237-348);Cadherin 4 (349-460)" "0000377669" "00000016" "99" "7482" "1" "7482" "1" "c.7482+1G>A" "r.spl" "p.?" "53i" "" "0000377670" "00000016" "99" "5368" "1" "5368" "1" "c.5368+1G>A" "r.spl" "p.?" "41i" "" "0000377671" "00000016" "99" "146" "-1" "429" "1" "c.(145+1_146-1)_(429+1_430-1)del" "r.(?)" "p.(?)" "3i_6i" "Cadherin 1 (34-132);Cadherin 2 (133-236)" "0000377672" "00000016" "75" "2330" "0" "2330" "0" "c.2330C>A" "r.(?)" "p.(Thr777Lys)" "22" "Cadherin 7 (672-784)" "0000377673" "00000016" "99" "3388" "0" "3388" "0" "c.3388G>T" "r.(?)" "p.(Asp1130Tyr)" "29" "Cadherin 11 (1103-1208)" "0000377674" "00000016" "99" "3388" "0" "3388" "0" "c.3388G>T" "r.(?)" "p.(Asp1130Tyr)" "29" "Cadherin 11 (1103-1208)" "0000377675" "00000016" "99" "122" "0" "122" "0" "c.122dup" "r.(?)" "p.(Ile42Aspfs*22)" "3" "Cadherin 1 (34-132)" "0000377676" "00000016" "99" "6829" "2" "6829" "2" "c.6829+2T>C" "r.spl?" "p.?" "49i" "" "0000377677" "00000016" "99" "8432" "0" "8432" "0" "c.8432G>A" "r.(?)" "p.(Trp2811*)" "59" "Cadherin 26 (2729-2846)" "0000377678" "00000016" "99" "337" "-1" "4617" "1" "c.(336+1_337-1)_(4617+1_4618-1)dup" "r.(?)" "p.(?)" "5i_37i" "" "0000377679" "00000016" "75" "115" "0" "115" "0" "c.115T>C" "r.(?)" "p.(Tyr39His)" "3" "Cadherin 1 (34-132)" "0000377680" "00000016" "75" "115" "0" "115" "0" "c.115T>C" "r.(?)" "p.(Tyr39His)" "3" "Cadherin 1 (34-132)" "0000377681" "00000016" "99" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Gln362*)" "11" "Cadherin 4 (349-460)" "0000377682" "00000016" "75" "4501" "0" "4501" "0" "c.4501G>A" "r.(?)" "p.(Asp1501Asn)" "37" "Cadherin 14 (1420-1527)" "0000377683" "00000016" "35" "5850" "0" "5850" "0" "c.5850T>A" "r.(?)" "p.(=)" "45" "Cadherin 18 (1852-1959)" "0000377684" "00000016" "35" "5850" "0" "5850" "0" "c.5850T>A" "r.(?)" "p.(=)" "45" "Cadherin 18 (1852-1959)" "0000377685" "00000016" "75" "8090" "0" "8090" "0" "c.8090G>A" "r.(?)" "p.(Gly2697Asp)" "57" "Cadherin 25 (2614-2722)" "0000377687" "00000016" "95" "6254" "-2" "6254" "-2" "c.6254-2A>G" "r.spl" "p.?" "47i" "" "0000377688" "00000016" "99" "3428" "0" "3428" "0" "c.3428dup" "r.(?)" "p.(His1143Glnfs*3)" "29" "Cadherin 11 (1103-1208)" "0000377690" "00000016" "75" "2663" "0" "2663" "0" "c.2663C>T" "r.(?)" "p.(Pro888Leu)" "24" "Cadherin 8 (779-890)" "0000406348" "00000016" "70" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "" "0000406349" "00000016" "90" "4853" "0" "4853" "0" "c.4853C>A" "r.(?)" "p.(Thr1618Lys)" "39" "" "0000406350" "00000016" "90" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "" "0000406351" "00000016" "90" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "" "0000406352" "00000016" "90" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" "8" "" "0000438547" "00000016" "90" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.spl?" "p.(=)" "" "" "0000438548" "00000016" "90" "6050" "-15" "6050" "-15" "c.6050-15G>A" "r.(=)" "p.(=)" "" "" "0000454009" "00000016" "70" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "11" "" "0000454010" "00000016" "70" "1515" "-12" "1515" "-12" "c.1515-12G>A" "r.(=)" "p.(=)" "15" "" "0000540625" "00000016" "30" "67" "8" "67" "8" "c.67+8C>T" "r.(=)" "p.(=)" "" "" "0000540627" "00000016" "50" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Val86Met)" "" "" "0000540628" "00000016" "30" "324" "0" "324" "0" "c.324C>T" "r.(?)" "p.(Ser108=)" "" "" "0000540629" "00000016" "50" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Ala129Thr)" "" "" "0000540630" "00000016" "50" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Val139Ile)" "" "" "0000540631" "00000016" "50" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Val139Ile)" "" "" "0000540632" "00000016" "50" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Arg140Cys)" "" "" "0000540633" "00000016" "10" "429" "4" "429" "4" "c.429+4G>A" "r.spl?" "p.?" "" "" "0000540634" "00000016" "50" "429" "4" "429" "4" "c.429+4G>A" "r.spl?" "p.?" "" "" "0000540636" "00000016" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Val154Met)" "" "" "0000540637" "00000016" "50" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Ser175Phe)" "" "" "0000540639" "00000016" "30" "832" "8" "832" "8" "c.832+8A>G" "r.(=)" "p.(=)" "" "" "0000540640" "00000016" "50" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323His)" "" "" "0000540641" "00000016" "10" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Leu360=)" "" "" "0000540642" "00000016" "10" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Leu360=)" "" "" "0000540643" "00000016" "10" "1089" "0" "1089" "0" "c.1089C>T" "r.(?)" "p.(Val363=)" "" "" "0000540644" "00000016" "50" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Gly364Ser)" "" "" "0000540645" "00000016" "30" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "" "0000540646" "00000016" "10" "1134" "22" "1134" "22" "c.1134+22C>T" "r.(=)" "p.(=)" "" "" "0000540647" "00000016" "30" "1134" "72" "1134" "72" "c.1134+72A>G" "r.(=)" "p.(=)" "" "" "0000540648" "00000016" "50" "1152" "0" "1152" "0" "c.1152C>A" "r.(?)" "p.(Ser384Arg)" "" "" "0000540649" "00000016" "50" "1179" "0" "1179" "0" "c.1179C>A" "r.(?)" "p.(Asn393Lys)" "" "" "0000540651" "00000016" "30" "1227" "0" "1227" "0" "c.1227G>A" "r.(?)" "p.(Ala409=)" "" "" "0000540652" "00000016" "50" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Val424Met)" "" "" "0000540653" "00000016" "90" "1291" "-1" "1291" "-1" "c.1291-1G>A" "r.spl?" "p.?" "" "" "0000540654" "00000016" "30" "1305" "0" "1305" "0" "c.1305G>C" "r.(?)" "p.(Glu435Asp)" "" "" "0000540655" "00000016" "10" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Ser436Asn)" "" "" "0000540656" "00000016" "30" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Ser436Asn)" "" "" "0000540658" "00000016" "30" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Ser436Asn)" "" "" "0000540659" "00000016" "30" "1449" "74" "1449" "74" "c.1449+74G>A" "r.(=)" "p.(=)" "" "" "0000540660" "00000016" "10" "1449" "74" "1449" "74" "c.1449+74G>T" "r.(=)" "p.(=)" "" "" "0000540661" "00000016" "10" "1449" "74" "1449" "74" "c.1449+74G>T" "r.(=)" "p.(=)" "" "" "0000540662" "00000016" "30" "1449" "76" "1449" "76" "c.1449+76C>A" "r.(=)" "p.(=)" "" "" "0000540663" "00000016" "10" "1536" "0" "1536" "0" "c.1536G>A" "r.(?)" "p.(Thr512=)" "" "" "0000540664" "00000016" "30" "1536" "0" "1536" "0" "c.1536G>A" "r.(?)" "p.(Thr512=)" "" "" "0000540665" "00000016" "50" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Glu572Lys)" "" "" "0000540666" "00000016" "30" "2022" "0" "2022" "0" "c.2022C>T" "r.(?)" "p.(Pro674=)" "" "" "0000540667" "00000016" "50" "2171" "0" "2171" "0" "c.2171G>C" "r.(?)" "p.(Arg724Pro)" "" "" "0000540668" "00000016" "10" "2176" "12" "2176" "12" "c.2176+12del" "r.(=)" "p.(=)" "" "" "0000540669" "00000016" "10" "2176" "13" "2176" "13" "c.2176+13dup" "r.(=)" "p.(=)" "" "" "0000540670" "00000016" "50" "2239" "0" "2239" "0" "c.2239C>T" "r.(?)" "p.(Arg747Cys)" "" "" "0000540671" "00000016" "50" "2240" "0" "2240" "0" "c.2240G>A" "r.(?)" "p.(Arg747His)" "" "" "0000540672" "00000016" "30" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "" "" "0000540673" "00000016" "30" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "" "" "0000540674" "00000016" "30" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "" "" "0000540675" "00000016" "30" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Arg842Trp)" "" "" "0000540676" "00000016" "50" "2804" "0" "2804" "0" "c.2804G>A" "r.(?)" "p.(Arg935His)" "" "" "0000540678" "00000016" "30" "2820" "0" "2820" "0" "c.2820C>T" "r.(?)" "p.(Ile940=)" "" "" "0000540679" "00000016" "30" "2830" "0" "2830" "0" "c.2830A>G" "r.(?)" "p.(Ser944Gly)" "" "" "0000540681" "00000016" "10" "2878" "0" "2878" "0" "c.2878G>A" "r.(?)" "p.(Glu960Lys)" "" "" "0000540682" "00000016" "30" "2878" "0" "2878" "0" "c.2878G>A" "r.(?)" "p.(Glu960Lys)" "" "" "0000540683" "00000016" "10" "3106" "17" "3106" "17" "c.3106+17C>T" "r.(=)" "p.(=)" "" "" "0000540684" "00000016" "10" "3114" "0" "3114" "0" "c.3114C>T" "r.(?)" "p.(Asn1038=)" "" "" "0000540685" "00000016" "30" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Trp)" "" "" "0000540686" "00000016" "50" "3179" "0" "3179" "0" "c.3179G>A" "r.(?)" "p.(Arg1060Gln)" "" "" "0000540687" "00000016" "30" "3285" "0" "3285" "0" "c.3285G>C" "r.(?)" "p.(Val1095=)" "" "" "0000540688" "00000016" "30" "3293" "0" "3293" "0" "c.3293A>G" "r.(?)" "p.(Asn1098Ser)" "" "" "0000540689" "00000016" "30" "3293" "0" "3293" "0" "c.3293A>G" "r.(?)" "p.(Asn1098Ser)" "" "" "0000540690" "00000016" "50" "3353" "0" "3353" "0" "c.3353G>T" "r.(?)" "p.(Gly1118Val)" "" "" "0000540693" "00000016" "30" "3510" "0" "3510" "0" "c.3510G>A" "r.(?)" "p.(Arg1170=)" "" "" "0000540694" "00000016" "50" "3579" "2" "3579" "2" "c.3579+2T>C" "r.spl?" "p.?" "" "" "0000540696" "00000016" "90" "3655" "0" "3655" "0" "c.3655C>T" "r.(?)" "p.(Arg1219Ter)" "" "" "0000540697" "00000016" "10" "3716" "-8" "3716" "-8" "c.3716-8T>C" "r.(=)" "p.(=)" "" "" "0000540698" "00000016" "10" "3801" "0" "3801" "0" "c.3801C>T" "r.(?)" "p.(Thr1267=)" "" "" "0000540699" "00000016" "30" "3845" "0" "3845" "0" "c.3845A>G" "r.(?)" "p.(Asn1282Ser)" "" "" "0000540700" "00000016" "30" "3845" "0" "3845" "0" "c.3845A>G" "r.(?)" "p.(Asn1282Ser)" "" "" "0000540701" "00000016" "90" "3955" "0" "3955" "0" "c.3955G>T" "r.(?)" "p.(Glu1319Ter)" "" "" "0000540702" "00000016" "50" "3986" "0" "3986" "0" "c.3986G>A" "r.(?)" "p.(Gly1329Asp)" "" "" "0000540703" "00000016" "50" "4021" "0" "4021" "0" "c.4021G>A" "r.(?)" "p.(Asp1341Asn)" "" "" "0000540704" "00000016" "90" "4021" "0" "4021" "0" "c.4021G>A" "r.(?)" "p.(Asp1341Asn)" "" "" "0000540705" "00000016" "30" "4041" "0" "4041" "0" "c.4041G>A" "r.(?)" "p.(Thr1347=)" "" "" "0000540706" "00000016" "50" "4045" "0" "4045" "0" "c.4045C>T" "r.(?)" "p.(Arg1349Cys)" "" "" "0000540707" "00000016" "30" "4210" "-7" "4210" "-7" "c.4210-7C>T" "r.(=)" "p.(=)" "" "" "0000540708" "00000016" "30" "4216" "0" "4216" "0" "c.4216A>G" "r.(?)" "p.(Ile1406Val)" "" "" "0000540709" "00000016" "50" "4242" "0" "4242" "0" "c.4242C>A" "r.(?)" "p.(Asn1414Lys)" "" "" "0000540710" "00000016" "30" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "" "" "0000540711" "00000016" "90" "4359" "1" "4359" "1" "c.4359+1G>A" "r.spl?" "p.?" "" "" "0000540712" "00000016" "50" "4405" "0" "4405" "0" "c.4405A>G" "r.(?)" "p.(Ile1469Val)" "" "" "0000540713" "00000016" "50" "4418" "0" "4418" "0" "c.4418A>G" "r.(?)" "p.(Asn1473Ser)" "" "" "0000540714" "00000016" "50" "4519" "0" "4519" "0" "c.4519C>T" "r.(?)" "p.(Arg1507Trp)" "" "" "0000540715" "00000016" "50" "4519" "0" "4519" "0" "c.4519C>T" "r.(?)" "p.(Arg1507Trp)" "" "" "0000540716" "00000016" "70" "4562" "0" "4562" "0" "c.4562A>G" "r.(?)" "p.(Asn1521Ser)" "" "" "0000540717" "00000016" "30" "4589" "0" "4589" "0" "c.4589C>T" "r.(?)" "p.(Pro1530Leu)" "" "" "0000540718" "00000016" "10" "4671" "0" "4671" "0" "c.4671C>T" "r.(?)" "p.(Ile1557=)" "" "" "0000540719" "00000016" "50" "4762" "0" "4762" "0" "c.4762C>T" "r.(?)" "p.(Arg1588Trp)" "" "" "0000540720" "00000016" "50" "4825" "0" "4825" "0" "c.4825G>C" "r.(?)" "p.(Glu1609Gln)" "" "" "0000540722" "00000016" "10" "4858" "0" "4858" "0" "c.4858G>A" "r.(?)" "p.(Val1620Met)" "" "" "0000540723" "00000016" "10" "5026" "0" "5026" "0" "c.5026G>A" "r.(?)" "p.(Ala1676Thr)" "" "" "0000540725" "00000016" "30" "5050" "0" "5050" "0" "c.5050C>T" "r.(?)" "p.(Arg1684Cys)" "" "" "0000540726" "00000016" "50" "5050" "0" "5050" "0" "c.5050C>T" "r.(?)" "p.(Arg1684Cys)" "" "" "0000540727" "00000016" "50" "5053" "0" "5053" "0" "c.5053A>G" "r.(?)" "p.(Ile1685Val)" "" "" "0000540728" "00000016" "30" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Asp1686Asn)" "" "" "0000540729" "00000016" "50" "5117" "0" "5117" "0" "c.5117G>A" "r.(?)" "p.(Arg1706His)" "" "" "0000540730" "00000016" "30" "5130" "0" "5130" "0" "c.5130C>T" "r.(?)" "p.(Ile1710=)" "" "" "0000540733" "00000016" "30" "5312" "0" "5312" "0" "c.5312G>A" "r.(?)" "p.(Arg1771Gln)" "" "" "0000540734" "00000016" "50" "5363" "0" "5363" "0" "c.5363C>T" "r.(?)" "p.(Pro1788Leu)" "" "" "0000540736" "00000016" "50" "5518" "0" "5518" "0" "c.5518C>T" "r.(?)" "p.(Arg1840Trp)" "" "" "0000540737" "00000016" "50" "5711" "0" "5711" "0" "c.5711C>T" "r.(?)" "p.(Thr1904Met)" "" "" "0000540738" "00000016" "50" "5753" "0" "5753" "0" "c.5753G>A" "r.(?)" "p.(Arg1918Gln)" "" "" "0000540739" "00000016" "70" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "" "" "0000540740" "00000016" "50" "6139" "0" "6139" "0" "c.6139G>A" "r.(?)" "p.(Gly2047Arg)" "" "" "0000540741" "00000016" "50" "6139" "0" "6139" "0" "c.6139G>T" "r.(?)" "p.(Gly2047Trp)" "" "" "0000540742" "00000016" "70" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Asp2148Asn)" "" "" "0000540743" "00000016" "50" "6530" "0" "6530" "0" "c.6530C>T" "r.(?)" "p.(Pro2177Leu)" "" "" "0000540744" "00000016" "30" "6591" "0" "6591" "0" "c.6591G>A" "r.(?)" "p.(Thr2197=)" "" "" "0000540745" "00000016" "30" "6648" "0" "6648" "0" "c.6648C>T" "r.(?)" "p.(Ala2216=)" "" "" "0000540746" "00000016" "30" "6705" "0" "6705" "0" "c.6705C>T" "r.(?)" "p.(Ile2235=)" "" "" "0000540747" "00000016" "50" "6709" "0" "6709" "0" "c.6709A>G" "r.(?)" "p.(Thr2237Ala)" "" "" "0000540748" "00000016" "30" "6713" "-8" "6713" "-8" "c.6713-8G>A" "r.(=)" "p.(=)" "" "" "0000540749" "00000016" "30" "6955" "0" "6955" "0" "c.6955G>A" "r.(?)" "p.(Ala2319Thr)" "" "" "0000540750" "00000016" "10" "6990" "0" "6990" "0" "c.6990G>T" "r.(?)" "p.(Leu2330=)" "" "" "0000540751" "00000016" "50" "7128" "0" "7128" "0" "c.7128C>A" "r.(?)" "p.(Asp2376Glu)" "" "" "0000540752" "00000016" "50" "7394" "0" "7394" "0" "c.7394G>A" "r.(?)" "p.(Arg2465Gln)" "" "" "0000540753" "00000016" "50" "7466" "0" "7466" "0" "c.7466G>A" "r.(?)" "p.(Arg2489His)" "" "" "0000540755" "00000016" "30" "7630" "0" "7630" "0" "c.7630T>C" "r.(?)" "p.(Leu2544=)" "" "" "0000540756" "00000016" "30" "7630" "0" "7630" "0" "c.7630T>C" "r.(?)" "p.(Leu2544=)" "" "" "0000540757" "00000016" "90" "7660" "1" "7660" "1" "c.7660+1G>T" "r.spl?" "p.?" "" "" "0000540758" "00000016" "90" "7660" "1" "7660" "1" "c.7660+1G>T" "r.spl?" "p.?" "" "" "0000540759" "00000016" "30" "7661" "-19" "7661" "-19" "c.7661-19C>T" "r.(=)" "p.(=)" "" "" "0000540760" "00000016" "50" "7822" "0" "7822" "0" "c.7822C>T" "r.(?)" "p.(Arg2608Cys)" "" "" "0000540761" "00000016" "50" "7823" "0" "7823" "0" "c.7823G>A" "r.(?)" "p.(Arg2608His)" "" "" "0000540762" "00000016" "50" "7934" "0" "7934" "0" "c.7934A>C" "r.(?)" "p.(Asn2645Thr)" "" "" "0000540763" "00000016" "30" "8167" "0" "8167" "0" "c.8167G>C" "r.(?)" "p.(Val2723Leu)" "" "" "0000540764" "00000016" "50" "8239" "0" "8239" "0" "c.8239G>A" "r.(?)" "p.(Val2747Met)" "" "" "0000540765" "00000016" "50" "8248" "0" "8248" "0" "c.8248G>A" "r.(?)" "p.(Val2750Met)" "" "" "0000540766" "00000016" "30" "8384" "0" "8384" "0" "c.8384G>A" "r.(?)" "p.(Arg2795Gln)" "" "" "0000540767" "00000016" "50" "8498" "0" "8498" "0" "c.8498G>A" "r.(?)" "p.(Arg2833His)" "" "" "0000540768" "00000016" "50" "8575" "0" "8575" "0" "c.8575G>A" "r.(?)" "p.(Ala2859Thr)" "" "" "0000540769" "00000016" "30" "8673" "0" "8673" "0" "c.8673C>T" "r.(?)" "p.(Phe2891=)" "" "" "0000540770" "00000016" "50" "8744" "0" "8744" "0" "c.8744G>A" "r.(?)" "p.(Arg2915His)" "" "" "0000540771" "00000016" "30" "8808" "0" "8808" "0" "c.8808C>T" "r.(?)" "p.(Asp2936=)" "" "" "0000540772" "00000016" "10" "8859" "0" "8859" "0" "c.8859C>T" "r.(?)" "p.(Asp2953=)" "" "" "0000540773" "00000016" "50" "9046" "0" "9046" "0" "c.9046C>T" "r.(?)" "p.(Arg3016Cys)" "" "" "0000540774" "00000016" "50" "9067" "0" "9067" "0" "c.9067G>C" "r.(?)" "p.(Asp3023His)" "" "" "0000540775" "00000016" "10" "9077" "7" "9077" "7" "c.9077+7C>T" "r.(=)" "p.(=)" "" "" "0000540776" "00000016" "30" "9129" "0" "9129" "0" "c.9129G>C" "r.(?)" "p.(Arg3043=)" "" "" "0000540777" "00000016" "50" "9139" "0" "9139" "0" "c.9139G>A" "r.(?)" "p.(Val3047Ile)" "" "" "0000540778" "00000016" "10" "9148" "0" "9148" "0" "c.9148G>T" "r.(?)" "p.(Val3050Leu)" "" "" "0000540779" "00000016" "50" "9178" "0" "9178" "0" "c.9178G>T" "r.(?)" "p.(Asp3060Tyr)" "" "" "0000540780" "00000016" "50" "9201" "0" "9201" "0" "c.9201G>A" "r.(?)" "p.(Met3067Ile)" "" "" "0000540781" "00000016" "50" "9204" "0" "9206" "0" "c.9204_9206del" "r.(?)" "p.(Ile3070del)" "" "" "0000540782" "00000016" "30" "9381" "-144" "9381" "-144" "c.9381-144C>A" "r.(=)" "p.(=)" "" "" "0000540783" "00000016" "10" "9444" "0" "9444" "0" "c.9444T>C" "r.(?)" "p.(His3148=)" "" "" "0000540784" "00000016" "30" "9501" "0" "9501" "0" "c.9501G>A" "r.(?)" "p.(Thr3167=)" "" "" "0000540785" "00000016" "30" "9501" "0" "9501" "0" "c.9501G>A" "r.(?)" "p.(Thr3167=)" "" "" "0000540786" "00000016" "30" "9511" "-7" "9511" "-7" "c.9511-7T>C" "r.(=)" "p.(=)" "" "" "0000540787" "00000016" "50" "9524" "0" "9524" "0" "c.9524G>A" "r.(?)" "p.(Arg3175His)" "" "" "0000540789" "00000016" "50" "9629" "0" "9629" "0" "c.9629T>C" "r.(?)" "p.(Ile3210Thr)" "" "" "0000540790" "00000016" "50" "9872" "0" "9872" "0" "c.9872C>T" "r.(?)" "p.(Thr3291Met)" "" "" "0000540791" "00000016" "30" "9903" "0" "9903" "0" "c.9903C>T" "r.(?)" "p.(Pro3301=)" "" "" "0000540792" "00000016" "30" "9942" "0" "9942" "0" "c.9942G>A" "r.(?)" "p.(Thr3314=)" "" "" "0000540793" "00000016" "50" "9943" "0" "9943" "0" "c.9943C>G" "r.(?)" "p.(Leu3315Val)" "" "" "0000540794" "00000016" "50" "9950" "0" "9950" "0" "c.9950C>A" "r.(?)" "p.(Ala3317Asp)" "" "" "0000540795" "00000016" "50" "9979" "0" "9979" "0" "c.9979G>A" "r.(?)" "p.(Ala3327Thr)" "" "" "0000540796" "00000016" "30" "10026" "0" "10026" "0" "c.10026C>T" "r.(?)" "p.(Asp3342=)" "" "" "0000612605" "00000016" "90" "336" "1" "336" "1" "c.336+1G>A" "r.spl?" "p.?" "" "" "0000612606" "00000016" "30" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.(Thr204=)" "" "" "0000612607" "00000016" "50" "695" "0" "695" "0" "c.695T>G" "r.(?)" "p.(Met232Arg)" "" "" "0000612608" "00000016" "50" "995" "0" "995" "0" "c.995C>T" "r.(?)" "p.(Thr332Met)" "" "" "0000612609" "00000016" "50" "2128" "0" "2128" "0" "c.2128A>G" "r.(?)" "p.(Ile710Val)" "" "" "0000612610" "00000016" "50" "3029" "0" "3029" "0" "c.3029G>A" "r.(?)" "p.(Arg1010His)" "" "" "0000612611" "00000016" "30" "3193" "0" "3193" "0" "c.3193G>A" "r.(?)" "p.(Ala1065Thr)" "" "" "0000612612" "00000016" "50" "3643" "0" "3643" "0" "c.3643C>T" "r.(?)" "p.(Arg1215Cys)" "" "" "0000612613" "00000016" "50" "3974" "0" "3974" "0" "c.3974A>C" "r.(?)" "p.(Asn1325Thr)" "" "" "0000612614" "00000016" "90" "4863" "0" "4863" "0" "c.4863C>A" "r.(?)" "p.(Tyr1621Ter)" "" "" "0000612615" "00000016" "30" "5535" "0" "5535" "0" "c.5535C>T" "r.(?)" "p.(Asn1845=)" "" "" "0000612617" "00000016" "30" "5713" "-7" "5713" "-7" "c.5713-7A>T" "r.(=)" "p.(=)" "" "" "0000612618" "00000016" "90" "6393" "0" "6393" "0" "c.6393del" "r.(?)" "p.(Ile2132SerfsTer11)" "" "" "0000612619" "00000016" "30" "6809" "0" "6809" "0" "c.6809G>A" "r.(?)" "p.(Arg2270His)" "" "" "0000612620" "00000016" "90" "7026" "0" "7026" "0" "c.7026del" "r.(?)" "p.(Tyr2343MetfsTer30)" "" "" "0000612621" "00000016" "50" "7237" "0" "7237" "0" "c.7237G>A" "r.(?)" "p.(Glu2413Lys)" "" "" "0000612622" "00000016" "50" "7552" "0" "7552" "0" "c.7552G>A" "r.(?)" "p.(Val2518Met)" "" "" "0000612623" "00000016" "50" "7823" "0" "7823" "0" "c.7823G>A" "r.(?)" "p.(Arg2608His)" "" "" "0000612624" "00000016" "30" "8179" "-15" "8179" "-15" "c.8179-15C>A" "r.(=)" "p.(=)" "" "" "0000612625" "00000016" "30" "9381" "-144" "9381" "-144" "c.9381-144C>A" "r.(=)" "p.(=)" "" "" "0000612626" "00000016" "50" "9670" "0" "9670" "0" "c.9670C>T" "r.(?)" "p.(Arg3224Trp)" "" "" "0000612627" "00000016" "30" "9867" "0" "9867" "0" "c.9867G>A" "r.(?)" "p.(Thr3289=)" "" "" "0000622410" "00000016" "30" "337" "-17" "337" "-17" "c.337-17C>T" "r.(=)" "p.(=)" "" "" "0000622411" "00000016" "50" "1867" "0" "1867" "0" "c.1867G>A" "r.(?)" "p.(Val623Ile)" "" "" "0000622412" "00000016" "50" "2711" "0" "2711" "0" "c.2711C>T" "r.(?)" "p.(Pro904Leu)" "" "" "0000622413" "00000016" "70" "3428" "0" "3428" "0" "c.3428dup" "r.(?)" "p.(His1143GlnfsTer3)" "" "" "0000622414" "00000016" "10" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Thr1209Ala)" "" "" "0000622415" "00000016" "90" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Arg1236Ter)" "" "" "0000622416" "00000016" "10" "4875" "0" "4875" "0" "c.4875G>A" "r.(?)" "p.(Val1625=)" "" "" "0000622418" "00000016" "70" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "" "" "0000622419" "00000016" "30" "6453" "0" "6453" "0" "c.6453C>A" "r.(?)" "p.(Thr2151=)" "" "" "0000622420" "00000016" "10" "6687" "0" "6687" "0" "c.6687C>T" "r.(?)" "p.(Asp2229=)" "" "" "0000622421" "00000016" "30" "9339" "0" "9339" "0" "c.9339C>T" "r.(?)" "p.(Asp3113=)" "" "" "0000622422" "00000016" "90" "9498" "0" "9498" "0" "c.9498dup" "r.(?)" "p.(Thr3167HisfsTer10)" "" "" "0000622423" "00000016" "30" "14321" "0" "14321" "0" "c.*4256G>A" "r.(=)" "p.(=)" "" "" "0000647962" "00000016" "10" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Gln58Arg)" "" "" "0000647963" "00000016" "50" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Ala129Thr)" "" "" "0000647964" "00000016" "50" "386" "0" "386" "0" "c.386C>T" "r.(?)" "p.(Ala129Val)" "" "" "0000647965" "00000016" "30" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184His)" "" "" "0000647966" "00000016" "30" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "" "0000647967" "00000016" "30" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Val475Met)" "" "" "0000647968" "00000016" "50" "1867" "0" "1867" "0" "c.1867G>A" "r.(?)" "p.(Val623Ile)" "" "" "0000647969" "00000016" "50" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "" "" "0000647970" "00000016" "50" "2830" "0" "2830" "0" "c.2830A>G" "r.(?)" "p.(Ser944Gly)" "" "" "0000647971" "00000016" "10" "3664" "0" "3664" "0" "c.3664G>A" "r.(?)" "p.(Ala1222Thr)" "" "" "0000647972" "00000016" "90" "4309" "0" "4309" "0" "c.4309C>T" "r.(?)" "p.(Arg1437*)" "" "" "0000647973" "00000016" "10" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "" "" "0000647974" "00000016" "30" "4509" "0" "4509" "0" "c.4509C>T" "r.(=)" "p.(=)" "" "" "0000647975" "00000016" "10" "4858" "0" "4858" "0" "c.4858G>A" "r.(?)" "p.(Val1620Met)" "" "" "0000647976" "00000016" "50" "5131" "0" "5131" "0" "c.5131G>A" "r.(?)" "p.(Val1711Ile)" "" "" "0000647977" "00000016" "50" "5228" "0" "5228" "0" "c.5228C>A" "r.(?)" "p.(Thr1743Asn)" "" "" "0000647978" "00000016" "10" "5419" "0" "5419" "0" "c.5419G>A" "r.(?)" "p.(Val1807Met)" "" "" "0000647979" "00000016" "90" "5712" "1" "5712" "1" "c.5712+1G>A" "r.spl?" "p.?" "" "" "0000647980" "00000016" "70" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "" "" "0000647981" "00000016" "10" "6809" "0" "6809" "0" "c.6809G>A" "r.(?)" "p.(Arg2270His)" "" "" "0000647982" "00000016" "30" "6847" "0" "6847" "0" "c.6847G>A" "r.(?)" "p.(Val2283Ile)" "" "" "0000647983" "00000016" "50" "7468" "0" "7468" "0" "c.7468G>A" "r.(?)" "p.(Glu2490Lys)" "" "" "0000647984" "00000016" "30" "7762" "0" "7762" "0" "c.7762G>C" "r.(?)" "p.(Glu2588Gln)" "" "" "0000647985" "00000016" "30" "8401" "0" "8401" "0" "c.8401T>G" "r.(?)" "p.(Phe2801Val)" "" "" "0000647986" "00000016" "50" "9524" "0" "9524" "0" "c.9524G>A" "r.(?)" "p.(Arg3175His)" "" "" "0000647987" "00000016" "50" "9565" "0" "9565" "0" "c.9565C>T" "r.(?)" "p.(Arg3189Trp)" "" "" "0000647988" "00000016" "30" "9758" "0" "9758" "0" "c.9758A>C" "r.(?)" "p.(Asp3253Ala)" "" "" "0000647989" "00000016" "50" "10580" "0" "10580" "0" "c.*515C>A" "r.(=)" "p.(=)" "" "" "0000656535" "00000016" "30" "2712" "0" "2712" "0" "c.2712G>A" "r.(?)" "p.(Pro904=)" "" "" "0000656536" "00000016" "50" "3067" "0" "3067" "0" "c.3067G>A" "r.(?)" "p.(Asp1023Asn)" "" "" "0000656537" "00000016" "30" "3915" "0" "3915" "0" "c.3915C>T" "r.(?)" "p.(Asn1305=)" "" "" "0000656538" "00000016" "30" "4287" "0" "4287" "0" "c.4287C>T" "r.(?)" "p.(Pro1429=)" "" "" "0000656539" "00000016" "30" "5038" "0" "5038" "0" "c.5038G>A" "r.(?)" "p.(Val1680Ile)" "" "" "0000656540" "00000016" "50" "5502" "0" "5502" "0" "c.5502A>G" "r.(?)" "p.(Thr1834=)" "" "" "0000656541" "00000016" "50" "7571" "0" "7571" "0" "c.7571C>T" "r.(?)" "p.(Ala2524Val)" "" "" "0000656542" "00000016" "50" "9014" "0" "9014" "0" "c.9014C>T" "r.(?)" "p.(Ala3005Val)" "" "" "0000663573" "00000016" "50" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Gly2771Ser)" "" "" "0000669073" "00000016" "50" "2830" "0" "2830" "0" "c.2830A>G" "r.(?)" "p.(Ser944Gly)" "" "" "0000669074" "00000016" "10" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "" "" "0000669075" "00000016" "30" "4509" "0" "4509" "0" "c.4509C>T" "r.(=)" "p.(=)" "" "" "0000669076" "00000016" "10" "4858" "0" "4858" "0" "c.4858G>A" "r.(?)" "p.(Val1620Met)" "" "" "0000669077" "00000016" "30" "6847" "0" "6847" "0" "c.6847G>A" "r.(?)" "p.(Val2283Ile)" "" "" "0000669078" "00000016" "30" "7762" "0" "7762" "0" "c.7762G>C" "r.(?)" "p.(Glu2588Gln)" "" "" "0000669079" "00000016" "50" "10580" "0" "10580" "0" "c.*515C>A" "r.(=)" "p.(=)" "" "" "0000674884" "00000016" "90" "2334" "0" "2334" "0" "c.2334G>A" "r.(?)" "p.(Trp778*)" "" "" "0000678889" "00000016" "50" "1213" "0" "1213" "0" "c.1213G>A" "r.(?)" "p.(Val405Ile)" "" "" "0000678890" "00000016" "50" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Gly540Ser)" "" "" "0000678891" "00000016" "50" "2122" "0" "2122" "0" "c.2122T>G" "r.(?)" "p.(Ser708Ala)" "" "" "0000678892" "00000016" "50" "2995" "0" "2995" "0" "c.2995G>A" "r.(?)" "p.(Val999Met)" "" "" "0000678893" "00000016" "30" "3200" "0" "3200" "0" "c.3200T>C" "r.(?)" "p.(Met1067Thr)" "" "" "0000678894" "00000016" "30" "5209" "0" "5209" "0" "c.5209A>G" "r.(?)" "p.(Ile1737Val)" "" "" "0000678895" "00000016" "90" "5400" "0" "5400" "0" "c.5400dup" "r.(?)" "p.(Leu1801AlafsTer25)" "" "" "0000678896" "00000016" "30" "5871" "0" "5871" "0" "c.5871C>G" "r.(?)" "p.(Pro1957=)" "" "" "0000678897" "00000016" "30" "7994" "0" "7994" "0" "c.7994T>C" "r.(?)" "p.(Ile2665Thr)" "" "" "0000678898" "00000016" "30" "8823" "0" "8823" "0" "c.8823C>T" "r.(?)" "p.(Asn2941=)" "" "" "0000678899" "00000016" "50" "9185" "0" "9185" "0" "c.9185T>C" "r.(?)" "p.(Met3062Thr)" "" "" "0000678900" "00000016" "30" "10033" "0" "10033" "0" "c.10033A>C" "r.(?)" "p.(Met3345Leu)" "" "" "0000684509" "00000016" "70" "5712" "0" "5712" "0" "c.5712G>A" "r.spl" "p.?" "" "" "0000684623" "00000016" "70" "4552" "0" "4552" "0" "c.4552del" "r.(?)" "p.(Leu1518Trpfs*20)" "" "" "0000684833" "00000016" "90" "4488" "0" "4488" "0" "c.4488G>C" "r.spl" "p.?" "" "" "0000684834" "00000016" "90" "4488" "0" "4488" "0" "c.4488G>C" "r.spl" "p.?" "" "" "0000684835" "00000016" "90" "4488" "0" "4488" "0" "c.4488G>C" "r.spl" "p.?" "" "" "0000684836" "00000016" "90" "4488" "0" "4488" "0" "c.4488G>C" "r.spl" "p.?" "" "" "0000684840" "00000016" "90" "4488" "0" "4488" "0" "c.4488G>C" "r.spl" "p.?" "" "" "0000684843" "00000016" "90" "7730" "0" "7734" "0" "c.7730_7734del" "r.(?)" "p.(Phe2577Serfs*28)" "" "" "0000684844" "00000016" "90" "1624" "0" "1624" "0" "c.1624G>T" "r.(?)" "p.(Glu542*)" "" "" "0000685072" "00000016" "90" "5311" "0" "5311" "0" "c.5311C>T" "r.(?)" "p.(Arg1771*)" "" "" "0000685652" "00000016" "90" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "" "" "0000685657" "00000016" "90" "7221" "0" "7221" "0" "c.7221C>A" "r.(?)" "p.(Tyr2407*)" "" "" "0000685673" "00000016" "50" "3115" "0" "3115" "0" "c.3115G>A" "r.(?)" "p.(Val1039Met)" "" "" "0000685687" "00000016" "90" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.spl" "p.?" "" "" "0000685688" "00000016" "70" "8462" "0" "8462" "0" "c.8462dup" "r.(?)" "p.(Asp2822Argfs*5)" "" "" "0000685700" "00000016" "70" "7279" "0" "7279" "0" "c.7279del" "r.(?)" "p.(Thr2427Leufs*47)" "" "" "0000685717" "00000016" "70" "3007" "0" "3007" "0" "c.3007T>C" "r.(?)" "p.(Ser1003Pro)" "" "" "0000685725" "00000016" "90" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "" "" "0000690753" "00000016" "30" "574" "0" "574" "0" "c.574G>C" "r.(?)" "p.(Glu192Gln)" "" "" "0000690754" "00000016" "30" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(Ile341=)" "" "" "0000690755" "00000016" "50" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Arg457Trp)" "" "" "0000690756" "00000016" "50" "4391" "0" "4391" "0" "c.4391C>T" "r.(?)" "p.(Ala1464Val)" "" "" "0000690757" "00000016" "50" "4672" "0" "4672" "0" "c.4672G>A" "r.(?)" "p.(Gly1558Arg)" "" "" "0000690758" "00000016" "50" "4781" "0" "4781" "0" "c.4781G>A" "r.(?)" "p.(Arg1594His)" "" "" "0000690759" "00000016" "50" "5323" "0" "5323" "0" "c.5323C>T" "r.(?)" "p.(Pro1775Ser)" "" "" "0000690760" "00000016" "30" "5919" "0" "5919" "0" "c.5919C>T" "r.(?)" "p.(Pro1973=)" "" "" "0000690761" "00000016" "50" "6529" "0" "6529" "0" "c.6529C>A" "r.(?)" "p.(Pro2177Thr)" "" "" "0000690762" "00000016" "50" "6587" "0" "6587" "0" "c.6587T>A" "r.(?)" "p.(Ile2196Asn)" "" "" "0000690763" "00000016" "50" "7059" "0" "7059" "0" "c.7059G>T" "r.(?)" "p.(Lys2353Asn)" "" "" "0000690764" "00000016" "50" "7838" "0" "7838" "0" "c.7838G>A" "r.(?)" "p.(Arg2613His)" "" "" "0000690765" "00000016" "50" "7872" "4" "7872" "4" "c.7872+4C>G" "r.spl?" "p.?" "" "" "0000690766" "00000016" "50" "8407" "0" "8407" "0" "c.8407G>A" "r.(?)" "p.(Val2803Ile)" "" "" "0000690767" "00000016" "70" "9524" "0" "9524" "0" "c.9524G>A" "r.(?)" "p.(Arg3175His)" "" "" "0000690768" "00000016" "50" "9581" "0" "9581" "0" "c.9581A>T" "r.(?)" "p.(Glu3194Val)" "" "" "0000690769" "00000016" "50" "9694" "0" "9694" "0" "c.9694C>G" "r.(?)" "p.(Arg3232Gly)" "" "" "0000698054" "00000016" "90" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "39" "" "0000698277" "00000016" "70" "5009" "0" "5009" "0" "c.5009T>A" "r.(?)" "p.(Val1670Asp)" "38" "" "0000698278" "00000016" "90" "2752" "0" "2752" "0" "c.2752G>A" "r.(?)" "p.(Asp918Asn)" "" "" "0000704399" "00000016" "50" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Val2635Phe)" "" "" "0000712229" "00000016" "50" "3835" "0" "3835" "0" "c.3835T>G" "r.(?)" "p.(Tyr1279Asp)" "" "" "0000712238" "00000016" "50" "3076" "0" "3076" "0" "c.3076delC" "r.(?)" "p.(Leu1026Serfs*27)" "" "" "0000712246" "00000016" "50" "7807" "0" "7807" "0" "c.7807G>A" "r.(?)" "p.(Asp2603Asn)" "" "" "0000712247" "00000016" "50" "7807" "0" "7807" "0" "c.7807G>A" "r.(?)" "p.(Asp2603Asn)" "" "" "0000712287" "00000016" "50" "3497" "0" "3497" "0" "c.3497delT" "r.(?)" "p.(Leu1166fs)" "" "" "0000712288" "00000016" "50" "8523" "0" "8523" "0" "c.8523C>A" "r.(?)" "p.(Asp2841Glu)" "" "" "0000712292" "00000016" "50" "7923" "0" "7923" "0" "c.7923T>A" "r.(?)" "p.(Asp2641Glu)" "" "" "0000712293" "00000016" "50" "287" "0" "287" "0" "c.287A>T" "r.(?)" "p.(Glu96Val)" "" "" "0000712294" "00000016" "50" "287" "0" "287" "0" "c.287A>T" "r.(?)" "p.(Glu96Val)" "" "" "0000712295" "00000016" "50" "4004" "0" "4004" "0" "c.4004T>C" "r.(?)" "p.(Val1335Ala)" "" "" "0000712296" "00000016" "50" "4004" "0" "4004" "0" "c.4004T>C" "r.(?)" "p.(Val1335Ala)" "" "" "0000712567" "00000016" "50" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Arg256His)" "" "" "0000712568" "00000016" "50" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "" "" "0000712569" "00000016" "50" "7415" "0" "7415" "0" "c.7415T>A" "r.(?)" "p.(Ile2472Asn)" "" "" "0000722905" "00000016" "30" "145" "7" "145" "7" "c.145+7G>A" "r.(=)" "p.(=)" "" "" "0000722906" "00000016" "30" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Ala129=)" "" "" "0000722907" "00000016" "50" "574" "0" "574" "0" "c.574G>C" "r.(?)" "p.(Glu192Gln)" "" "" "0000722908" "00000016" "50" "1153" "0" "1153" "0" "c.1153A>T" "r.(?)" "p.(Met385Leu)" "" "" "0000722909" "00000016" "50" "4855" "0" "4855" "0" "c.4855C>A" "r.(?)" "p.(His1619Asn)" "" "" "0000722910" "00000016" "30" "5610" "0" "5610" "0" "c.5610C>T" "r.(?)" "p.(Val1870=)" "" "" "0000722911" "00000016" "50" "6340" "0" "6340" "0" "c.6340G>A" "r.(?)" "p.(Asp2114Asn)" "" "" "0000722912" "00000016" "30" "6648" "0" "6648" "0" "c.6648C>T" "r.(?)" "p.(Ala2216=)" "" "" "0000722913" "00000016" "90" "6698" "0" "6698" "0" "c.6698del" "r.(?)" "p.(Val2233Glyfs*8)" "" "" "0000722914" "00000016" "50" "8033" "0" "8033" "0" "c.8033G>T" "r.(?)" "p.(Arg2678Leu)" "" "" "0000722915" "00000016" "50" "9671" "0" "9671" "0" "c.9671G>A" "r.(?)" "p.(Arg3224Gln)" "" "" "0000730133" "00000016" "70" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Asp428Asn)" "" "" "0000730211" "00000016" "50" "9412" "0" "9412" "0" "c.9412C>T" "r.(?)" "p.(Arg3138Trp)" "" "" "0000730212" "00000016" "50" "617" "0" "617" "0" "c.617A>C" "r.(?)" "p.(Asn206Thr)" "" "" "0000730251" "00000016" "70" "6569" "0" "6569" "0" "c.6569G>A" "r.(?)" "p.(Gly2190Asp)" "" "" "0000731089" "00000016" "50" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "" "0000731097" "00000016" "50" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "" "0000731098" "00000016" "50" "3293" "0" "3293" "0" "c.3293A>G" "r.(?)" "p.(Asn1098Ser)" "" "" "0000731412" "00000016" "50" "4858" "0" "4858" "0" "c.4858G>A" "r.(?)" "p.(Val1620Met)" "" "" "0000731415" "00000016" "50" "4858" "0" "4858" "0" "c.4858G>A" "r.(?)" "p.(Val1620Met)" "" "" "0000732447" "00000016" "90" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "" "" "0000732469" "00000016" "50" "7722" "0" "7722" "0" "c.7722C>T" "r.(?)" "p.(Tyr2574=)" "" "" "0000732478" "00000016" "50" "6852" "0" "6852" "0" "c.6852G>C" "r.(?)" "p.(Leu2284=)" "" "" "0000732486" "00000016" "50" "6713" "-8" "6713" "-8" "c.6713-8G>A" "r.spl?" "p.?" "" "" "0000732487" "00000016" "50" "10026" "0" "10026" "0" "c.10026C>T" "r.(?)" "p.(Asp3342=)" "" "" "0000732516" "00000016" "90" "7132" "0" "7132" "0" "c.7132G>A" "r.(?)" "p.(Gly2378Arg)" "" "" "0000733238" "00000016" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "" "0000733239" "00000016" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly1435Ser)" "" "" "0000733240" "00000016" "70" "214" "0" "214" "0" "c.214G>T" "r.(?)" "p.(Glu72*)" "" "" "0000733241" "00000016" "70" "336" "1" "336" "1" "c.336+1G>A" "r.spl" "p.?" "" "" "0000733654" "00000016" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "" "0000733655" "00000016" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "" "0000733656" "00000016" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "" "0000735597" "00000016" "90" "1515" "-12" "1515" "-12" "c.1515-12G>A" "r.spl?" "p.?" "" "" "0000735598" "00000016" "90" "6285" "0" "6285" "0" "c.6285dup" "r.(?)" "p.(Glu2096*)" "" "" "0000735721" "00000016" "90" "3428" "0" "3428" "0" "c.3428dup" "r.(?)" "p.(His1143Glnfs*3)" "" "" "0000735855" "00000016" "70" "5546" "0" "5546" "0" "c.5546del" "r.(?)" "p.(Pro1849LeufsTer4)" "" "" "0000735875" "00000016" "70" "7482" "1" "7482" "1" "c.7482+1G>A" "r.spl" "p.?" "" "" "0000736041" "00000016" "70" "7916" "0" "7916" "0" "c.7916A>G" "r.(?)" "p.(Asp2639Gly)" "" "" "0000736048" "00000016" "50" "7823" "0" "7823" "0" "c.7823G>A" "r.(?)" "p.(Arg2608His)" "" "" "0000736644" "00000016" "90" "6517" "0" "6517" "0" "c.6517G>T" "r.(?)" "p.(Glu2173*)" "48" "" "0000736645" "00000016" "90" "6517" "0" "6517" "0" "c.6517G>T" "r.(?)" "p.(Glu2173*)" "48" "" "0000736646" "00000016" "90" "4489" "-2" "4489" "-2" "c.4489-2A>C" "r.spl" "p.?" "35i" "" "0000736654" "00000016" "90" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.spl" "p.?" "46i" "" "0000736655" "00000016" "90" "7872" "0" "7872" "0" "c.7872G>A" "r.spl" "p.?" "56" "" "0000736656" "00000016" "90" "7872" "0" "7872" "0" "c.7872G>A" "r.spl" "p.?" "56" "" "0000736665" "00000016" "90" "3862" "0" "3862" "0" "c.3862C>T" "r.(?)" "p.(Gln1288*)" "32a" "" "0000759966" "00000016" "50" "7748" "0" "7748" "0" "c.7748C>T" "r.(?)" "p.(Ala2583Val)" "" "" "0000760042" "00000016" "50" "2714" "0" "2714" "0" "c.2714C>T" "r.(?)" "p.(Ala905Val)" "" "" "0000760045" "00000016" "50" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Ser436Asn)" "" "" "0000760075" "00000016" "50" "3845" "0" "3845" "0" "c.3845A>G" "r.(?)" "p.(Asn1282Ser)" "" "" "0000760400" "00000016" "50" "2398" "-1" "2398" "-1" "c.2398-1G>T" "r.spl" "p.?" "" "" "0000760530" "00000016" "50" "7908" "0" "7908" "0" "c.7908C>G" "r.(?)" "p.(Tyr2636*)" "" "" "0000760660" "00000016" "90" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Lys)" "" "" "0000760678" "00000016" "90" "7221" "0" "7221" "0" "c.7221C>A" "r.(?)" "p.(Tyr2407Ter)" "" "" "0000763420" "00000016" "70" "7921" "0" "7921" "0" "c.7921G>A" "r.(?)" "p.(Asp2641Asn)" "56" "" "0000765224" "00000016" "70" "1411" "0" "1412" "0" "c.1411_1412delinsN[2]" "r.(?)" "p.(Glu471Ser)" "" "" "0000765225" "00000016" "70" "1528" "0" "1528" "0" "c.1528A>T" "r.(?)" "p.(Lys510*)" "" "" "0000765226" "00000016" "70" "1702" "0" "1703" "0" "c.1702_1703del" "r.(?)" "p.(Gly568Cysfs*20)" "" "" "0000765227" "00000016" "70" "4396" "0" "4396" "0" "c.4396dup" "r.(?)" "p.(Ala1466Glyfs*3)" "" "" "0000765228" "00000016" "90" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.spl" "p.?" "" "" "0000765229" "00000016" "90" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.spl" "p.?" "" "" "0000765238" "00000016" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "0000765347" "00000016" "70" "3862" "0" "3862" "0" "c.3862C>T" "r.(?)" "p.(Gln1288*)" "" "" "0000780197" "00000016" "70" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Glu1006Lys)" "" "" "0000784123" "00000016" "30" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "" "" "0000785600" "00000016" "90" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "" "" "0000786295" "00000016" "70" "4391" "0" "4391" "0" "c.4391C>A" "r.(?)" "p.(Ala1464Glu)" "" "" "0000786296" "00000016" "50" "7309" "0" "7309" "0" "c.7309A>G" "r.(?)" "p.(Ile2437Val)" "" "" "0000786300" "00000016" "90" "6393" "0" "6393" "0" "c.6393del" "r.(?)" "p.(Ile2132SerfsTer11)" "" "" "0000786339" "00000016" "90" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "" "" "0000786340" "00000016" "90" "8878" "0" "8878" "0" "c.8878G>A" "r.(?)" "p.(Val2960Ile)" "" "" "0000786341" "00000016" "90" "7466" "0" "7466" "0" "c.7466G>A" "r.(?)" "p.(Arg2489His)" "" "" "0000786386" "00000016" "90" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Arg140His)" "" "" "0000786387" "00000016" "90" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "" "" "0000787733" "00000016" "50" "2251" "0" "2251" "0" "c.2251G>A" "r.(?)" "p.(Gly751Arg)" "" "" "0000788069" "00000016" "50" "5653" "0" "5653" "0" "c.5653C>T" "r.(?)" "p.(Arg1885Cys)" "43" "" "0000788324" "00000016" "50" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Thr149Met)" "7" "" "0000788378" "00000016" "50" "4216" "0" "4216" "0" "c.4216A>G" "r.(?)" "p.(Ile1406Val)" "33" "" "0000788382" "00000016" "50" "5986" "0" "5986" "0" "c.5986G>A" "r.(?)" "p.(Ala1996Thr)" "44" "" "0000788387" "00000016" "50" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Asp428Asn)" "12" "" "0000788407" "00000016" "50" "5722" "0" "5722" "0" "c.5722G>A" "r.(?)" "p.(Val1908Ile)" "42" "" "0000788416" "00000016" "50" "4216" "0" "4216" "0" "c.4216A>G" "r.(?)" "p.(Ile1406Val)" "33" "" "0000788434" "00000016" "50" "8752" "0" "8752" "0" "c.8752G>A" "r.(?)" "p.(Asp2918Asn)" "59" "" "0000788439" "00000016" "50" "5722" "0" "5722" "0" "c.5722G>A" "r.(?)" "p.(Val1908Ile)" "42" "" "0000788498" "00000016" "50" "9617" "0" "9617" "0" "c.9617G>T" "r.(?)" "p.(Arg3206Leu)" "66" "" "0000788505" "00000016" "50" "4328" "0" "4328" "0" "c.4328C>G" "r.(?)" "p.(Ala1443Gly)" "33" "" "0000791281" "00000016" "50" "2970" "0" "2970" "0" "c.2970C>G" "r.(?)" "p.(Asp990Glu)" "" "" "0000794862" "00000016" "50" "8326" "0" "8326" "0" "c.8326G>A" "r.(?)" "p.(Gly2776Ser)" "" "" "0000796697" "00000016" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "48" "" "0000797558" "00000016" "70" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "" "" "0000797663" "00000016" "50" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Trp)" "" "" "0000797664" "00000016" "70" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(His755Tyr)" "" "" "0000797665" "00000016" "50" "3221" "0" "3221" "0" "c.3221A>T" "r.(?)" "p.(Asp1074Val)" "" "" "0000797959" "00000016" "90" "5710" "0" "5712" "3" "c.5710_5712+3del" "r.spl?" "p.(Thr1905del)" "" "" "0000797960" "00000016" "70" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "" "" "0000797961" "00000016" "50" "7241" "0" "7241" "0" "c.7241A>T" "r.(?)" "p.(Asp2414Val)" "" "" "0000797962" "00000016" "50" "3331" "0" "3331" "0" "c.3331G>T" "r.(?)" "p.(Val1111phe)" "" "" "0000797963" "00000016" "70" "429" "4" "429" "4" "c.429+4G>A" "r.spl?" "p.(?)" "" "" "0000797964" "00000016" "50" "2767" "0" "2767" "0" "c.2767G>A" "r.(?)" "p.(Gly923Ser)" "" "" "0000804513" "00000016" "50" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Arg27Trp)" "" "" "0000804514" "00000016" "30" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Glu81=)" "" "" "0000804515" "00000016" "10" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Ser170=)" "" "" "0000804516" "00000016" "10" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Leu298=)" "" "" "0000804517" "00000016" "50" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Gly364Ser)" "" "" "0000804518" "00000016" "50" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Asp428Asn)" "" "" "0000804519" "00000016" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(Ile448=)" "" "" "0000804520" "00000016" "50" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Val473Ile)" "" "" "0000804521" "00000016" "50" "1515" "-12" "1515" "-12" "c.1515-12G>A" "r.(=)" "p.(=)" "" "" "0000804522" "00000016" "50" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Gly540=)" "" "" "0000804523" "00000016" "50" "1814" "0" "1814" "0" "c.1814C>T" "r.(?)" "p.(Ala605Val)" "" "" "0000804524" "00000016" "30" "2289" "8" "2289" "8" "c.2289+8C>T" "r.(=)" "p.(=)" "" "" "0000804525" "00000016" "10" "2568" "0" "2568" "0" "c.2568C>G" "r.(?)" "p.(Ile856Met)" "" "" "0000804526" "00000016" "30" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Val858Ile)" "" "" "0000804527" "00000016" "50" "2687" "0" "2687" "0" "c.2687T>C" "r.(?)" "p.(Val896Ala)" "" "" "0000804528" "00000016" "50" "2891" "0" "2891" "0" "c.2891G>A" "r.(?)" "p.(Arg964Gln)" "" "" "0000804529" "00000016" "50" "2924" "0" "2924" "0" "c.2924A>G" "r.(?)" "p.(Lys975Arg)" "" "" "0000804530" "00000016" "50" "2926" "0" "2926" "0" "c.2926A>G" "r.(?)" "p.(Ser976Gly)" "" "" "0000804531" "00000016" "50" "3231" "0" "3231" "0" "c.3231T>G" "r.(?)" "p.(Pro1077=)" "" "" "0000804532" "00000016" "10" "3249" "0" "3249" "0" "c.3249G>A" "r.(?)" "p.(Thr1083=)" "" "" "0000804533" "00000016" "30" "3678" "0" "3678" "0" "c.3678G>A" "r.(?)" "p.(Thr1226=)" "" "" "0000804534" "00000016" "50" "4688" "0" "4688" "0" "c.4688T>C" "r.(?)" "p.(Leu1563Pro)" "" "" "0000804535" "00000016" "30" "4842" "0" "4842" "0" "c.4842G>C" "r.(?)" "p.(Leu1614=)" "" "" "0000804536" "00000016" "30" "4863" "0" "4863" "0" "c.4863C>T" "r.(?)" "p.(Tyr1621=)" "" "" "0000804537" "00000016" "10" "5130" "0" "5130" "0" "c.5130C>T" "r.(?)" "p.(Ile1710=)" "" "" "0000804538" "00000016" "50" "5236" "0" "5236" "0" "c.5236C>T" "r.(?)" "p.(Arg1746Trp)" "" "" "0000804539" "00000016" "10" "5871" "0" "5871" "0" "c.5871C>G" "r.(?)" "p.(Pro1957=)" "" "" "0000804540" "00000016" "30" "5923" "19" "5923" "19" "c.5923+19C>T" "r.(=)" "p.(=)" "" "" "0000804541" "00000016" "30" "6049" "18" "6049" "18" "c.6049+18C>G" "r.(=)" "p.(=)" "" "" "0000804542" "00000016" "50" "7394" "0" "7394" "0" "c.7394G>A" "r.(?)" "p.(Arg2465Gln)" "" "" "0000804543" "00000016" "50" "7942" "0" "7942" "0" "c.7942G>A" "r.(?)" "p.(Val2648Met)" "" "" "0000804544" "00000016" "50" "8878" "0" "8878" "0" "c.8878G>A" "r.(?)" "p.(Val2960Ile)" "" "" "0000804545" "00000016" "50" "9413" "0" "9413" "0" "c.9413G>A" "r.(?)" "p.(Arg3138Gln)" "" "" "0000804546" "00000016" "50" "9928" "0" "9928" "0" "c.9928C>T" "r.(?)" "p.(Arg3310Cys)" "" "" "0000811017" "00000016" "70" "7807" "0" "7807" "0" "c.7807G>A" "r.(?)" "p.(Asp2603Asn)" "" "" "0000811025" "00000016" "70" "9128" "0" "9128" "0" "c.9128G>A" "r.(?)" "p.(Arg3043Gln)" "" "" "0000811895" "00000016" "70" "137" "0" "137" "0" "c.137C>A" "r.(?)" "p.(Thr46Lys)" "" "" "0000811896" "00000016" "70" "2236" "0" "2236" "0" "c.2236G>A" "r.(?)" "p.(Val746Ile)" "" "" "0000814260" "00000016" "70" "4762" "0" "4762" "0" "c.4762C>T" "r.(?)" "p.(Arg1588Trp)" "36" "" "0000814291" "00000016" "70" "6305" "0" "6305" "0" "c.6305G>A" "r.(?)" "p.(Gly2102Glu)" "46" "" "0000816109" "00000016" "90" "4309" "0" "4309" "0" "c.4309C>T" "r.(?)" "p.(Arg1437*)" "" "" "0000816273" "00000016" "50" "2074" "2" "2074" "2" "c.2074+2T>G" "r.spl" "p.(?)" "" "" "0000816430" "00000016" "90" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "" "" "0000816566" "00000016" "70" "7145" "0" "7145" "0" "c.7145G>A" "r.(?)" "p.(Arg2382Gln)" "49" "" "0000816569" "00000016" "70" "9617" "0" "9617" "0" "c.9617G>A" "r.(?)" "p.(Arg3206His)" "66" "" "0000816574" "00000016" "70" "7145" "0" "7145" "0" "c.7145G>A" "r.(?)" "p.(Arg2382Gln)" "" "" "0000816575" "00000016" "70" "9617" "0" "9617" "0" "c.9617G>A" "r.(?)" "p.(Arg3206His)" "" "" "0000816625" "00000016" "50" "2970" "0" "2970" "0" "c.2970C>G" "r.(?)" "p.(Asp990Glu)" "" "" "0000817084" "00000016" "50" "5647" "0" "5647" "0" "c.5647A>C" "r.(?)" "p.(Asn1883His)" "" "" "0000817187" "00000016" "50" "7823" "0" "7823" "0" "c.7823G>A" "r.(?)" "p.(Arg2608His)" "" "" "0000817190" "00000016" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Trp)" "" "" "0000817696" "00000016" "70" "6393" "0" "6393" "0" "c.6393del" "r.(?)" "p.(Ile2132SerfsTer11)" "" "" "0000817697" "00000016" "70" "7979" "0" "7986" "0" "c.7979_7986del" "r.(?)" "p.(Asp2660ValfsTer55)" "" "" "0000819348" "00000016" "70" "4105" "-2" "4105" "-2" "c.4105-2A>T" "r.spl" "p.(?)" "" "" "0000819358" "00000016" "70" "5368" "1" "5368" "1" "c.5368+1G>A" "r.spl" "p.(?)" "" "" "0000819359" "00000016" "70" "5368" "1" "5368" "1" "c.5368+1G>A" "r.spl" "p.(?)" "" "" "0000819370" "00000016" "70" "4309" "0" "4309" "0" "c.4309C>T" "r.(?)" "p.(Arg1437*)" "" "" "0000819371" "00000016" "70" "4309" "0" "4309" "0" "c.4309C>T" "r.(?)" "p.(Arg1437*)" "" "" "0000819489" "00000016" "70" "6449" "0" "6449" "0" "c.6449del" "r.(?)" "p.(Gly2150Alafs*14)" "" "" "0000819704" "00000016" "70" "4858" "0" "4858" "0" "c.4858G>A" "r.(?)" "p.(Val1620Met)" "" "" "0000819868" "00000016" "70" "8053" "0" "8053" "0" "c.8053G>T" "r.(?)" "p.(Ala2685Ser)" "" "" "0000820109" "00000016" "70" "9077" "1" "9077" "1" "c.9077+1G>A" "r.spl" "p.(?)" "" "" "0000820620" "00000016" "70" "7362" "5" "7362" "5" "c.7362+5G>A" "r.spl?" "p.(?)" "" "" "0000820624" "00000016" "70" "146" "-1" "429" "1" "c.(145+1_146-1)_(429+1_430-1)del" "r.spl" "p.(?)" "" "" "0000820625" "00000016" "70" "146" "-1" "429" "1" "c.(145+1_146-1)_(429+1_430-1)del" "r.spl" "p.(?)" "" "" "0000820661" "00000016" "70" "9284" "0" "9284" "0" "c.9284dup" "r.(?)" "p.(Arg3096Glufs*24)" "" "" "0000821188" "00000016" "70" "4552" "0" "4552" "0" "c.4552del" "r.(?)" "p.(Leu1518Trpfs*20)" "" "" "0000823167" "00000016" "70" "6155" "0" "6155" "0" "c.6155C>T" "r.(?)" "p.(Thr2052Met)" "" "" "0000827447" "00000016" "70" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Arg)" "7" "" "0000827448" "00000016" "50" "9199" "-4" "9199" "-4" "c.9199-4G>A" "r.spl?" "p.?" "63i" "" "0000827449" "00000016" "90" "4504" "0" "4504" "0" "c.4504C>T" "r.(?)" "p.(Arg1502*)" "37" "" "0000827450" "00000016" "90" "5280" "0" "5280" "0" "c.5280del" "r.(?)" "p.(Arg1762Glufs*32)" "41" "" "0000827451" "00000016" "90" "4488" "0" "4488" "0" "c.4488G>C" "r.(?)" "p.(Gln1496His)" "36" "" "0000827452" "00000016" "70" "5584" "0" "5584" "0" "c.5584G>A" "r.(?)" "p.(Glu1862Lys)" "43" "" "0000827453" "00000016" "90" "6831" "0" "6831" "0" "c.6831del" "r.(?)" "p.(Lys2278Serfs*2)" "50" "" "0000827454" "00000016" "70" "7823" "0" "7823" "0" "c.7823G>A" "r.(?)" "p.(Arg2608His)" "55" "" "0000827455" "00000016" "90" "6049" "0" "6049" "0" "c.6049G>A" "r.(?)" "p.(Gly2017Ser)" "46" "" "0000827456" "00000016" "70" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Glu1006Lys)" "26" "" "0000828526" "00000016" "70" "1143" "0" "1176" "0" "c.1143_1176del" "r.(?)" "p.(Leu382Thrfs*54)" "" "" "0000829051" "00000016" "70" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "" "" "0000829073" "00000016" "70" "9278" "2" "9278" "2" "c.9278+2T>G" "r.spl" "p.(?)" "" "" "0000829452" "00000016" "70" "721" "2" "721" "2" "c.721+2T>C" "r.(?)" "p.?" "8" "" "0000829457" "00000016" "70" "726" "-2" "726" "-2" "c.726-2A>T" "r.(?)" "p.?" "8" "" "0000829469" "00000016" "70" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "" "0000829470" "00000016" "70" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Glu1006Lys)" "26" "" "0000829498" "00000016" "70" "7872" "0" "7872" "0" "c.7872G>A" "r.(=)" "p.(=)" "55" "" "0000829499" "00000016" "70" "3369" "1" "3369" "1" "c.3369+1G>A" "r.spl?" "p.?" "28i" "" "0000829523" "00000016" "70" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Glu1006Lys)" "26" "" "0000829524" "00000016" "70" "5237" "0" "5237" "0" "c.5237G>A" "r.(?)" "p.(Arg1746Gln)" "41" "" "0000829525" "00000016" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "" "0000829526" "00000016" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "" "0000829527" "00000016" "70" "2135" "0" "2136" "0" "c.2135_2136del" "r.(?)" "p.(Ser712Phefs*23)" "20" "" "0000829528" "00000016" "70" "6933" "0" "6933" "0" "c.6933del" "r.(?)" "p.(Thr2313Profs*60)" "50" "" "0000838854" "00000016" "50" "7145" "0" "7145" "0" "c.7145G>A" "r.(?)" "p.(Arg2382Gln)" "" "" "0000839413" "00000016" "50" "3484" "0" "3484" "0" "c.3484G>C" "r.(?)" "p.(Gly1162Arg)" "" "" "0000852547" "00000016" "30" "882" "0" "882" "0" "c.882C>G" "r.(?)" "p.(Thr294=)" "" "" "0000852548" "00000016" "30" "1227" "0" "1227" "0" "c.1227G>A" "r.(?)" "p.(Ala409=)" "" "" "0000852549" "00000016" "50" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Glu541Lys)" "" "" "0000852550" "00000016" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Ala675Thr)" "" "" "0000852551" "00000016" "50" "3175" "0" "3175" "0" "c.3175G>C" "r.(?)" "p.(Asp1059His)" "" "" "0000852552" "00000016" "50" "3230" "0" "3230" "0" "c.3230C>T" "r.(?)" "p.(Pro1077Leu)" "" "" "0000852553" "00000016" "50" "3397" "0" "3397" "0" "c.3397G>A" "r.(?)" "p.(Glu1133Lys)" "" "" "0000852554" "00000016" "30" "3580" "-13" "3580" "-13" "c.3580-13C>T" "r.(=)" "p.(=)" "" "" "0000852555" "00000016" "50" "4264" "0" "4264" "0" "c.4264T>A" "r.(?)" "p.(Ser1422Thr)" "" "" "0000852556" "00000016" "30" "4536" "0" "4536" "0" "c.4536C>A" "r.(?)" "p.(Ile1512=)" "" "" "0000852557" "00000016" "50" "5611" "0" "5611" "0" "c.5611G>A" "r.(?)" "p.(Ala1871Thr)" "" "" "0000852558" "00000016" "30" "5722" "0" "5722" "0" "c.5722G>A" "r.(?)" "p.(Val1908Ile)" "" "" "0000852559" "00000016" "30" "6170" "0" "6170" "0" "c.6170T>C" "r.(?)" "p.(Ile2057Thr)" "" "" "0000852560" "00000016" "50" "6493" "0" "6493" "0" "c.6493G>A" "r.(?)" "p.(Asp2165Asn)" "" "" "0000852561" "00000016" "50" "7463" "0" "7463" "0" "c.7463G>A" "r.(?)" "p.(Arg2488His)" "" "" "0000852562" "00000016" "50" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.(Gly2771Ser)" "" "" "0000852563" "00000016" "50" "8344" "0" "8344" "0" "c.8344G>A" "r.(?)" "p.(Asp2782Asn)" "" "" "0000852564" "00000016" "50" "9788" "0" "9788" "0" "c.9788A>G" "r.(?)" "p.(Gln3263Arg)" "" "" "0000852565" "00000016" "30" "10044" "0" "10044" "0" "c.10044C>G" "r.(?)" "p.(Pro3348=)" "" "" "0000861969" "00000016" "30" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Arg191Gln)" "" "" "0000861970" "00000016" "50" "656" "0" "656" "0" "c.656T>A" "r.(?)" "p.(Leu219Gln)" "" "" "0000861971" "00000016" "30" "1521" "0" "1521" "0" "c.1521G>A" "r.(?)" "p.(Ser507=)" "" "" "0000861972" "00000016" "70" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "" "" "0000861973" "00000016" "30" "3186" "0" "3186" "0" "c.3186C>A" "r.(?)" "p.(Thr1062=)" "" "" "0000861974" "00000016" "30" "5523" "0" "5523" "0" "c.5523G>A" "r.(?)" "p.(Val1841=)" "" "" "0000861975" "00000016" "30" "5931" "0" "5931" "0" "c.5931T>C" "r.(?)" "p.(Pro1977=)" "" "" "0000861976" "00000016" "50" "8644" "0" "8644" "0" "c.8644T>C" "r.(?)" "p.(Phe2882Leu)" "" "" "0000861977" "00000016" "30" "8765" "0" "8765" "0" "c.8765C>T" "r.(?)" "p.(Ala2922Val)" "" "" "0000861978" "00000016" "50" "8997" "0" "8997" "0" "c.8997G>C" "r.(?)" "p.(Lys2999Asn)" "" "" "0000861979" "00000016" "30" "9014" "0" "9014" "0" "c.9014C>G" "r.(?)" "p.(Ala3005Gly)" "" "" "0000861980" "00000016" "30" "9238" "0" "9238" "0" "c.9238G>A" "r.(?)" "p.(Ala3080Thr)" "" "" "0000869489" "00000016" "90" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Glu44Lys)" "3" "" "0000869490" "00000016" "90" "945" "1" "945" "1" "c.945+1G>T" "r.spl?" "p.?" "10i" "" "0000869491" "00000016" "90" "6050" "-15" "6050" "-15" "c.6050-15G>A" "r.(=)" "p.(=)" "46i" "" "0000869492" "00000016" "90" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.(=)" "p.(=)" "46i" "" "0000869493" "00000016" "70" "9319" "1" "9319" "1" "c.9319+1G>T" "r.spl?" "p.?" "65i" "" "0000869494" "00000016" "90" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Val858Ile)" "23" "" "0000869495" "00000016" "90" "2891" "0" "2891" "0" "c.2891G>A" "r.(?)" "p.(Arg964Gln)" "25" "" "0000873286" "00000016" "55" "1477" "0" "1477" "0" "c.1477G>A" "r.(?)" "p.(Gly493Arg)" "15" "" "0000873287" "00000016" "55" "7937" "0" "7937" "0" "c.7937G>A" "r.(?)" "p.(Gly2646Glu)" "56" "" "0000873288" "00000016" "55" "8633" "0" "8635" "0" "c.8633_8635del" "r.(?)" "p.(Asn2878del)" "60" "" "0000889218" "00000016" "50" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Trp)" "" "" "0000889219" "00000016" "50" "1355" "0" "1355" "0" "c.1355A>G" "r.(?)" "p.(Asn452Ser)" "" "" "0000889220" "00000016" "50" "2767" "0" "2767" "0" "c.2767G>A" "r.(?)" "p.(Gly923Ser)" "" "" "0000889221" "00000016" "10" "2970" "0" "2970" "0" "c.2970C>T" "r.(?)" "p.(Asp990=)" "" "" "0000889222" "00000016" "50" "3385" "0" "3385" "0" "c.3385G>A" "r.(?)" "p.(Ala1129Thr)" "" "" "0000889223" "00000016" "50" "3847" "0" "3847" "0" "c.3847G>A" "r.(?)" "p.(Val1283Met)" "" "" "0000889224" "00000016" "30" "4041" "0" "4041" "0" "c.4041G>A" "r.(?)" "p.(Thr1347=)" "" "" "0000889225" "00000016" "30" "4902" "0" "4902" "0" "c.4902C>T" "r.(?)" "p.(Phe1634=)" "" "" "0000889226" "00000016" "50" "4937" "0" "4937" "0" "c.4937G>T" "r.(?)" "p.(Gly1646Val)" "" "" "0000889227" "00000016" "50" "7807" "0" "7807" "0" "c.7807G>A" "r.(?)" "p.(Asp2603Asn)" "" "" "0000889228" "00000016" "30" "8401" "0" "8401" "0" "c.8401T>G" "r.(?)" "p.(Phe2801Val)" "" "" "0000889229" "00000016" "50" "9070" "0" "9070" "0" "c.9070G>A" "r.(?)" "p.(Val3024Met)" "" "" "0000908895" "00000016" "90" "1291" "-1" "1291" "-1" "c.1291-1G>A" "r.[1291_1335del,1291_1382del,1290_1291ins[1290+1_1291-2;a]]" "p.[Leu431_Lys445del,Leu431Profs*25,Lys431Valfs*22]" "" "" "0000908939" "00000016" "90" "6555" "0" "6555" "0" "c.6555G>T" "r.6555g>u" "p.Glu2185Asp" "" "" "0000913317" "00000016" "50" "8903" "0" "8903" "0" "c.8903T>C" "r.(?)" "p.(Val2968Ala)" "" "" "0000913318" "00000016" "10" "13912" "0" "13912" "0" "c.*3847T>C" "r.(=)" "p.(=)" "" "" "0000913319" "00000016" "10" "14247" "0" "14247" "0" "c.*4182C>T" "r.(=)" "p.(=)" "" "" "0000913320" "00000016" "10" "15009" "0" "15009" "0" "c.*4944G>A" "r.(=)" "p.(=)" "" "" "0000925184" "00000016" "50" "164" "0" "164" "0" "c.164T>C" "r.(?)" "p.(Leu55Ser)" "" "" "0000925185" "00000016" "50" "752" "0" "752" "0" "c.752C>T" "r.(?)" "p.(Pro251Leu)" "" "" "0000925186" "00000016" "70" "1152" "0" "1152" "0" "c.1152C>A" "r.(?)" "p.(Ser384Arg)" "" "" "0000925187" "00000016" "50" "3502" "0" "3502" "0" "c.3502C>T" "r.(?)" "p.(Arg1168Trp)" "" "" "0000925188" "00000016" "50" "5131" "0" "5131" "0" "c.5131G>A" "r.(?)" "p.(Val1711Ile)" "" "" "0000925189" "00000016" "50" "8928" "0" "8928" "0" "c.8928C>G" "r.(?)" "p.(Ile2976Met)" "" "" "0000929698" "00000016" "10" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Leu360=)" "" "" "0000943964" "00000016" "90" "2866" "0" "2866" "0" "c.2866G>A" "r.(?)" "p.(Glu956Lys)" "" "" "0000943965" "00000016" "90" "2968" "0" "2968" "0" "c.2968G>A" "r.(?)" "p.(Asp990Asn)" "" "" "0000943966" "00000016" "90" "3481" "0" "3481" "0" "c.3481C>T" "r.(?)" "p.(Arg1161Ter)" "" "" "0000943967" "00000016" "90" "3880" "0" "3880" "0" "c.3880C>T" "r.(?)" "p.(Gln1294Ter)" "" "" "0000943968" "00000016" "90" "4892" "0" "4892" "0" "c.4892C>T" "r.(?)" "p.(Ala1631Val)" "" "" "0000943969" "00000016" "90" "5149" "0" "5149" "0" "c.5149T>C" "r.(?)" "p.(Cys1717Arg)" "" "" "0000943970" "00000016" "90" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.spl" "p.?" "" "" "0000943971" "00000016" "70" "6083" "0" "6083" "0" "c.6083A>C" "r.(?)" "p.(Asp2028Ala)" "" "" "0000943972" "00000016" "90" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "" "" "0000943973" "00000016" "90" "6133" "0" "6133" "0" "c.6133G>A" "r.(?)" "p.(Asp2045Asn)" "" "" "0000943974" "00000016" "70" "6202" "0" "6202" "0" "c.6202A>C" "r.(?)" "p.(Thr2068Pro)" "" "" "0000943975" "00000016" "90" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Asp2202Asn)" "" "" "0000943976" "00000016" "90" "7814" "0" "7814" "0" "c.7814A>G" "r.(?)" "p.(Asn2605Ser)" "" "" "0000943977" "00000016" "90" "7990" "0" "7992" "0" "c.7990_7992del" "r.(?)" "p.(Phe2664del)" "" "" "0000943978" "00000016" "90" "8351" "0" "8352" "0" "c.8351_8352insCGAT" "r.(?)" "p.(Leu2785AspfsTer43)" "" "" "0000944272" "00000016" "90" "7814" "0" "7814" "0" "c.7814A>G" "r.(?)" "p.(Asn2605Ser)" "" "" "0000944275" "00000016" "90" "6049" "1" "6049" "1" "c.6049+1G>A" "r.spl" "p.?" "" "" "0000944327" "00000016" "90" "5131" "0" "5131" "0" "c.5131G>A" "r.(?)" "p.(Val1711Ile)" "" "" "0000944469" "00000016" "50" "9932" "0" "9932" "0" "c.9932C>T" "r.(?)" "p.(Ser3311Leu)" "" "" "0000944513" "00000016" "90" "7814" "0" "7814" "0" "c.7814A>G" "r.(?)" "p.(Asn2605Ser)" "" "" "0000949428" "00000016" "30" "2830" "0" "2830" "0" "c.2830A>G" "r.(?)" "p.(Ser944Gly)" "" "" "0000949429" "00000016" "30" "3074" "0" "3074" "0" "c.3074G>A" "r.(?)" "p.(Gly1025Asp)" "" "" "0000949430" "00000016" "50" "3820" "0" "3820" "0" "c.3820G>A" "r.(?)" "p.(Glu1274Lys)" "" "" "0000949431" "00000016" "50" "6332" "0" "6332" "0" "c.6332G>A" "r.(?)" "p.(Gly2111Glu)" "" "" "0000949432" "00000016" "50" "8054" "0" "8054" "0" "c.8054C>T" "r.(?)" "p.(Ala2685Val)" "" "" "0000949433" "00000016" "30" "8775" "0" "8775" "0" "c.8775C>T" "r.(?)" "p.(=)" "" "" "0000949434" "00000016" "30" "9903" "0" "9903" "0" "c.9903C>T" "r.(?)" "p.(Pro3301=)" "" "" "0000958747" "00000016" "70" "6050" "-9" "6050" "-9" "c.6050-9G>A" "r.spl?" "p.?" "" "" "0000958787" "00000016" "70" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Glu1006Lys)" "" "" "0000958840" "00000016" "50" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Val857Ile)" "" "" "0000958841" "00000016" "50" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Val857Ile)" "" "" "0000958875" "00000016" "70" "4105" "-4" "4105" "-2" "c.4105-4_4105-2delinsTCT" "r.spl" "p.?" "" "" "0000958978" "00000016" "50" "4405" "0" "4405" "0" "c.4405A>G" "r.(?)" "p.(Ile1469Val)" "" "" "0000959243" "00000016" "90" "429" "2" "429" "2" "c.429+2T>C" "r.spl" "p.?" "" "" "0000959269" "00000016" "50" "6856" "0" "6856" "0" "c.6856G>A" "r.(?)" "p.(Val2286Ile)" "" "" "0000959272" "00000016" "50" "6856" "0" "6856" "0" "c.6856G>A" "r.(?)" "p.(Val2286Ile)" "" "" "0000959316" "00000016" "50" "7823" "0" "7823" "0" "c.7823G>A" "r.(?)" "p.(Arg2608His)" "" "" "0000959428" "00000016" "50" "4582" "0" "4582" "0" "c.4582G>A" "r.(?)" "p.(Glu1528Lys)" "" "" "0000965814" "00000016" "30" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Val858Ile)" "" "" "0000965817" "00000016" "30" "2926" "0" "2926" "0" "c.2926A>G" "r.(?)" "p.(Ser976Gly)" "" "" "0000965819" "00000016" "50" "3821" "0" "3821" "0" "c.3821A>G" "r.(?)" "p.(Glu1274Gly)" "" "" "0000965820" "00000016" "30" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(=)" "" "" "0000965823" "00000016" "10" "5931" "0" "5931" "0" "c.5931T>C" "r.(?)" "p.(Pro1977=)" "" "" "0000979110" "00000016" "50" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Val139Ile)" "" "" "0000979111" "00000016" "50" "1149" "0" "1149" "0" "c.1149C>A" "r.(?)" "p.(Asn383Lys)" "" "" "0000979112" "00000016" "50" "1545" "0" "1547" "0" "c.1545_1547del" "r.(?)" "p.(Ile515del)" "" "" "0000979113" "00000016" "50" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Arg700His)" "" "" "0000979114" "00000016" "50" "3688" "0" "3688" "0" "c.3688G>A" "r.(?)" "p.(Val1230Met)" "" "" "0000979115" "00000016" "30" "4846" "-4" "4846" "-4" "c.4846-4A>T" "r.spl?" "p.?" "" "" "0000979116" "00000016" "50" "5518" "0" "5518" "0" "c.5518C>T" "r.(?)" "p.(Arg1840Trp)" "" "" "0000979117" "00000016" "50" "5711" "0" "5711" "0" "c.5711C>T" "r.(?)" "p.(Thr1904Met)" "" "" "0000979118" "00000016" "50" "6332" "0" "6332" "0" "c.6332G>A" "r.(?)" "p.(Gly2111Glu)" "" "" "0000979119" "00000016" "50" "7615" "0" "7615" "0" "c.7615G>C" "r.(?)" "p.(Gly2539Arg)" "" "" "0000979120" "00000016" "50" "8054" "0" "8054" "0" "c.8054C>T" "r.(?)" "p.(Ala2685Val)" "" "" "0000979121" "00000016" "30" "8065" "-8" "8065" "-8" "c.8065-8G>A" "r.(=)" "p.(=)" "" "" "0000979122" "00000016" "70" "8146" "0" "8146" "0" "c.8146del" "r.(?)" "p.(Asp2716MetfsTer8)" "" "" "0000979123" "00000016" "50" "8459" "0" "8459" "0" "c.8459C>T" "r.(?)" "p.(Thr2820Ile)" "" "" "0000979124" "00000016" "50" "9185" "0" "9185" "0" "c.9185T>C" "r.(?)" "p.(Met3062Thr)" "" "" "0000979125" "00000016" "50" "9381" "-23" "9381" "-8" "c.9381-23_9381-8del" "r.(=)" "p.(=)" "" "" "0000979126" "00000016" "50" "14247" "0" "14247" "0" "c.*4182C>G" "r.(=)" "p.(=)" "" "" "0000998484" "00000016" "10" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Ser436Asn)" "" "" "0000998485" "00000016" "30" "4022" "0" "4022" "0" "c.4022A>G" "r.(?)" "p.(Asp1341Gly)" "" "" "0001007041" "00000016" "90" "2866" "0" "2866" "0" "c.2866G>A" "r.(?)" "p.(Glu956Lys)" "25" "" "0001007042" "00000016" "70" "1888" "0" "1888" "0" "c.1888G>T" "r.(?)" "p.(Glu630*)" "18" "" "0001014646" "00000016" "50" "935" "0" "935" "0" "c.935T>G" "r.(?)" "p.(Leu312Arg)" "" "" "0001014647" "00000016" "50" "4340" "0" "4340" "0" "c.4340A>T" "r.(?)" "p.(Asp1447Val)" "" "" "0001014648" "00000016" "50" "6920" "0" "6920" "0" "c.6920A>G" "r.(?)" "p.(Glu2307Gly)" "" "" "0001014649" "00000016" "90" "7900" "0" "7900" "0" "c.7900G>T" "r.(?)" "p.(Glu2634*)" "" "" "0001030078" "00000016" "70" "9184" "0" "9185" "0" "c.9184_9185del" "r.(?)" "p.(Met3062Valfs*57)" "" "" "0001030150" "00000016" "30" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "" "0001037974" "00000016" "50" "853" "0" "853" "0" "c.853G>C" "r.(?)" "p.(Ala285Pro)" "" "" "0001037975" "00000016" "30" "1134" "13" "1134" "13" "c.1134+13A>G" "r.(=)" "p.(=)" "" "" "0001037976" "00000016" "30" "1449" "74" "1449" "74" "c.1449+74G>T" "r.(=)" "p.(=)" "" "" "0001037977" "00000016" "50" "1637" "0" "1637" "0" "c.1637G>A" "r.(?)" "p.(Arg546Gln)" "" "" "0001037978" "00000016" "50" "1867" "0" "1867" "0" "c.1867G>A" "r.(?)" "p.(Val623Ile)" "" "" "0001037979" "00000016" "50" "1986" "4" "1986" "4" "c.1986+4A>G" "r.spl?" "p.?" "" "" "0001037980" "00000016" "50" "2926" "0" "2926" "0" "c.2926A>G" "r.(?)" "p.(Ser976Gly)" "" "" "0001037981" "00000016" "50" "3151" "0" "3151" "0" "c.3151G>A" "r.(?)" "p.(Val1051Ile)" "" "" "0001037982" "00000016" "50" "3295" "0" "3295" "0" "c.3295C>T" "r.(?)" "p.(Arg1099Trp)" "" "" "0001037983" "00000016" "30" "3619" "0" "3619" "0" "c.3619G>A" "r.(?)" "p.(Val1207Met)" "" "" "0001037984" "00000016" "90" "3655" "0" "3655" "0" "c.3655C>T" "r.(?)" "p.(Arg1219Ter)" "" "" "0001037985" "00000016" "50" "6580" "0" "6580" "0" "c.6580G>A" "r.(?)" "p.(Ala2194Thr)" "" "" "0001037986" "00000016" "50" "7823" "0" "7823" "0" "c.7823G>A" "r.(?)" "p.(Arg2608His)" "" "" "0001037987" "00000016" "50" "8411" "0" "8411" "0" "c.8411A>G" "r.(?)" "p.(Lys2804Arg)" "" "" "0001037988" "00000016" "50" "9067" "0" "9067" "0" "c.9067G>C" "r.(?)" "p.(Asp3023His)" "" "" "0001037989" "00000016" "30" "9198" "10" "9198" "10" "c.9198+10G>A" "r.(=)" "p.(=)" "" "" "0001037990" "00000016" "50" "9291" "0" "9291" "0" "c.9291G>T" "r.(?)" "p.(Lys3097Asn)" "" "" "0001037991" "00000016" "30" "10036" "0" "10036" "0" "c.10036G>C" "r.(?)" "p.(Glu3346Gln)" "" "" "0001037992" "00000016" "50" "15098" "0" "15098" "0" "c.*5033C>G" "r.(=)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2109 "{{screeningid}}" "{{variantid}}" "0000000007" "0000000146" "0000000033" "0000000142" "0000000067" "0000000151" "0000000068" "0000000143" "0000000075" "0000000141" "0000000078" "0000000145" "0000000079" "0000000147" "0000000080" "0000000148" "0000000081" "0000000149" "0000000081" "0000000150" "0000000102" "0000944469" "0000000209" "0000004905" "0000002906" "0000021276" "0000002906" "0000021277" "0000058985" "0000089786" "0000059103" "0000089900" "0000059135" "0000096185" "0000060226" "0000091215" "0000060227" "0000091216" "0000080102" "0000128978" "0000080102" "0000128979" "0000080106" "0000128986" "0000080106" "0000128987" "0000080116" "0000129004" "0000080116" "0000129005" "0000081196" "0000130282" "0000081436" "0000130571" "0000081436" "0000130572" "0000081437" "0000130574" "0000081437" "0000406348" "0000081513" "0000000143" "0000081514" "0000000144" "0000145015" "0000788324" "0000166581" "0000376314" "0000166582" "0000377610" "0000166583" "0000375711" "0000166584" "0000375715" "0000166584" "0000375719" "0000166585" "0000375716" "0000166585" "0000375720" "0000166586" "0000375717" "0000166586" "0000375743" "0000166587" "0000375718" "0000166587" "0000375744" "0000166588" "0000375740" "0000166588" "0000375745" "0000166589" "0000375741" "0000166589" "0000375746" "0000166590" "0000375742" "0000166590" "0000375747" "0000166591" "0000375751" "0000166591" "0000375754" "0000166592" "0000375755" "0000166592" "0000375758" "0000166593" "0000375756" "0000166593" "0000375759" "0000166594" "0000375757" "0000166594" "0000375760" "0000166595" "0000375761" "0000166595" "0000375763" "0000166596" "0000375762" "0000166596" "0000375764" "0000166597" "0000375765" "0000166597" "0000375841" "0000166598" "0000375752" "0000166599" "0000375844" "0000166600" "0000375779" "0000166600" "0000375780" "0000166600" "0000375847" "0000166600" "0000375849" "0000166600" "0000375850" "0000166600" "0000375851" "0000166600" "0000375864" "0000166600" "0000375865" "0000166600" "0000375884" "0000166600" "0000375885" "0000166600" "0000375904" "0000166600" "0000375905" "0000166600" "0000375923" "0000166600" "0000375924" "0000166600" "0000375945" "0000166600" "0000375946" "0000166601" "0000375781" "0000166601" "0000375782" "0000166601" "0000375866" "0000166601" "0000375867" "0000166601" "0000375886" "0000166601" "0000375887" "0000166601" "0000375906" "0000166601" "0000375907" "0000166601" "0000375922" "0000166601" "0000375925" "0000166601" "0000375947" "0000166601" "0000375948" "0000166602" "0000375783" "0000166602" "0000375848" "0000166602" "0000375868" "0000166602" "0000375888" "0000166602" "0000375908" "0000166602" "0000375926" "0000166602" "0000375949" "0000166602" "0000375950" "0000166602" "0000375979" "0000166602" "0000375989" "0000166603" "0000375778" "0000166603" "0000375845" "0000166603" "0000375862" "0000166603" "0000375882" "0000166603" "0000375902" "0000166603" "0000375920" "0000166603" "0000375970" "0000166603" "0000375971" "0000166603" "0000376008" "0000166603" "0000376016" "0000166603" "0000376022" "0000166603" "0000376026" "0000166603" "0000376031" "0000166603" "0000376034" "0000166603" "0000376043" "0000166603" "0000376056" "0000166603" "0000376061" "0000166603" "0000376073" "0000166603" "0000376081" "0000166603" "0000376098" "0000166603" "0000376112" "0000166603" "0000376162" "0000166603" "0000376191" "0000166603" "0000376200" "0000166603" "0000376205" "0000166603" "0000376207" "0000166603" "0000376216" "0000166603" "0000376243" "0000166603" "0000376276" "0000166603" "0000376306" "0000166603" "0000376315" "0000166603" "0000376316" "0000166603" "0000376355" "0000166603" "0000376356" "0000166604" "0000375794" "0000166604" "0000375852" "0000166604" "0000375869" "0000166604" "0000376045" "0000166604" "0000376326" "0000166604" "0000376327" "0000166604" "0000376365" "0000166604" "0000376366" "0000166604" "0000376385" "0000166604" "0000376386" "0000166604" "0000376394" "0000166604" "0000376395" "0000166604" "0000376411" "0000166604" "0000376413" "0000166605" "0000376438" "0000166605" "0000376446" "0000166606" "0000375937" "0000166606" "0000375985" "0000166606" "0000376113" "0000166606" "0000376114" "0000166606" "0000376201" "0000166606" "0000376317" "0000166606" "0000376318" "0000166606" "0000376357" "0000166606" "0000376358" "0000166606" "0000376406" "0000166606" "0000376407" "0000166606" "0000376439" "0000166606" "0000376447" "0000166606" "0000376448" "0000166606" "0000376449" "0000166606" "0000376478" "0000166606" "0000376487" "0000166606" "0000376488" "0000166606" "0000376501" "0000166607" "0000375708" "0000166607" "0000375846" "0000166607" "0000375863" "0000166607" "0000375883" "0000166607" "0000375903" "0000166607" "0000375921" "0000166607" "0000375938" "0000166607" "0000375939" "0000166607" "0000375986" "0000166607" "0000376044" "0000166607" "0000376057" "0000166607" "0000376074" "0000166607" "0000376082" "0000166607" "0000376115" "0000166607" "0000376116" "0000166607" "0000376217" "0000166607" "0000376218" "0000166607" "0000376244" "0000166607" "0000376245" "0000166607" "0000376319" "0000166607" "0000376359" "0000166607" "0000376450" "0000166607" "0000376503" "0000166607" "0000376505" "0000166608" "0000375957" "0000166608" "0000375994" "0000166608" "0000376062" "0000166608" "0000376194" "0000166608" "0000376210" "0000166608" "0000376328" "0000166608" "0000376329" "0000166608" "0000376414" "0000166608" "0000376415" "0000166608" "0000376456" "0000166608" "0000376492" "0000166608" "0000376507" "0000166608" "0000376508" "0000166608" "0000376521" "0000166608" "0000376547" "0000166608" "0000376548" "0000166608" "0000376549" "0000166608" "0000376551" "0000166608" "0000376552" "0000166608" "0000376557" "0000166608" "0000376558" "0000166609" "0000375940" "0000166609" "0000375941" "0000166609" "0000376117" "0000166609" "0000376118" "0000166609" "0000376320" "0000166609" "0000376321" "0000166609" "0000376354" "0000166609" "0000376360" "0000166609" "0000376560" "0000166609" "0000376561" "0000166610" "0000375942" "0000166610" "0000375987" "0000166610" "0000375988" "0000166610" "0000376119" "0000166610" "0000376120" "0000166610" "0000376391" "0000166610" "0000376451" "0000166610" "0000376479" "0000166610" "0000376489" "0000166610" "0000376502" "0000166610" "0000376550" "0000166610" "0000376562" "0000166610" "0000376563" "0000166610" "0000376564" "0000166611" "0000375943" "0000166611" "0000375944" "0000166611" "0000376121" "0000166611" "0000376122" "0000166611" "0000376219" "0000166611" "0000376220" "0000166611" "0000376246" "0000166611" "0000376247" "0000166611" "0000376322" "0000166611" "0000376323" "0000166611" "0000376361" "0000166611" "0000376362" "0000166611" "0000376405" "0000166611" "0000376408" "0000166611" "0000376452" "0000166611" "0000376453" "0000166611" "0000376490" "0000166611" "0000376491" "0000166611" "0000376567" "0000166611" "0000376568" "0000166612" "0000375958" "0000166612" "0000375959" "0000166612" "0000375995" "0000166612" "0000375996" "0000166612" "0000376127" "0000166612" "0000376128" "0000166612" "0000376167" "0000166612" "0000376168" "0000166612" "0000376225" "0000166612" "0000376226" "0000166612" "0000376252" "0000166612" "0000376253" "0000166612" "0000376281" "0000166612" "0000376282" "0000166612" "0000376330" "0000166612" "0000376331" "0000166612" "0000376367" "0000166612" "0000376368" "0000166612" "0000376396" "0000166612" "0000376397" "0000166612" "0000376416" "0000166612" "0000376417" "0000166612" "0000376457" "0000166612" "0000376458" "0000166612" "0000376493" "0000166612" "0000376522" "0000166612" "0000376523" "0000166612" "0000376569" "0000166612" "0000376570" "0000166612" "0000376574" "0000166612" "0000376578" "0000166612" "0000376579" "0000166612" "0000376581" "0000166612" "0000376584" "0000166613" "0000375709" "0000166613" "0000375853" "0000166613" "0000375870" "0000166613" "0000375889" "0000166613" "0000375909" "0000166613" "0000375927" "0000166613" "0000376009" "0000166613" "0000376010" "0000166613" "0000376025" "0000166613" "0000376029" "0000166613" "0000376037" "0000166613" "0000376046" "0000166613" "0000376058" "0000166613" "0000376075" "0000166613" "0000376083" "0000166613" "0000376084" "0000166613" "0000376129" "0000166613" "0000376169" "0000166613" "0000376202" "0000166613" "0000376332" "0000166613" "0000376369" "0000166613" "0000376398" "0000166613" "0000376418" "0000166613" "0000376524" "0000166613" "0000376553" "0000166613" "0000376585" "0000166613" "0000376591" "0000166613" "0000376600" "0000166613" "0000376602" "0000166613" "0000376603" "0000166613" "0000376604" "0000166613" "0000376605" "0000166613" "0000376606" "0000166613" "0000376607" "0000166613" "0000376608" "0000166614" "0000375854" "0000166614" "0000375855" "0000166614" "0000375871" "0000166614" "0000375872" "0000166614" "0000375890" "0000166614" "0000375891" "0000166614" "0000375910" "0000166614" "0000375911" "0000166614" "0000375928" "0000166614" "0000375929" "0000166614" "0000375960" "0000166614" "0000375961" "0000166614" "0000376047" "0000166614" "0000376048" "0000166614" "0000376063" "0000166614" "0000376064" "0000166614" "0000376085" "0000166614" "0000376086" "0000166614" "0000376130" "0000166614" "0000376131" "0000166614" "0000376170" "0000166614" "0000376171" "0000166614" "0000376195" "0000166614" "0000376196" "0000166614" "0000376254" "0000166614" "0000376255" "0000166614" "0000376283" "0000166614" "0000376284" "0000166614" "0000376333" "0000166614" "0000376334" "0000166614" "0000376370" "0000166614" "0000376371" "0000166614" "0000376419" "0000166614" "0000376420" "0000166614" "0000376525" "0000166614" "0000376526" "0000166614" "0000376609" "0000166614" "0000376610" "0000166614" "0000376611" "0000166614" "0000376612" "0000166614" "0000376613" "0000166614" "0000376614" "0000166614" "0000376615" "0000166614" "0000376616" "0000166614" "0000376617" "0000166614" "0000376618" "0000166614" "0000376619" "0000166614" "0000376620" "0000166614" "0000376621" "0000166614" "0000376622" "0000166614" "0000376623" "0000166614" "0000376624" "0000166614" "0000376636" "0000166614" "0000376637" "0000166614" "0000376641" "0000166614" "0000376642" "0000166614" "0000376645" "0000166614" "0000376646" "0000166614" "0000376649" "0000166614" "0000376650" "0000166615" "0000375856" "0000166615" "0000375873" "0000166615" "0000375892" "0000166615" "0000375912" "0000166615" "0000375930" "0000166615" "0000375962" "0000166615" "0000376038" "0000166615" "0000376049" "0000166615" "0000376065" "0000166615" "0000376087" "0000166615" "0000376132" "0000166615" "0000376133" "0000166615" "0000376227" "0000166615" "0000376228" "0000166615" "0000376256" "0000166615" "0000376257" "0000166615" "0000376311" "0000166615" "0000376335" "0000166615" "0000376372" "0000166615" "0000376421" "0000166615" "0000376459" "0000166615" "0000376480" "0000166615" "0000376592" "0000166615" "0000376651" "0000166615" "0000376652" "0000166615" "0000376655" "0000166615" "0000376656" "0000166615" "0000376659" "0000166615" "0000376660" "0000166615" "0000376665" "0000166615" "0000376666" "0000166615" "0000376670" "0000166615" "0000376671" "0000166615" "0000376672" "0000166615" "0000376675" "0000166616" "0000375963" "0000166616" "0000375997" "0000166616" "0000375998" "0000166616" "0000376134" "0000166616" "0000376135" "0000166616" "0000376172" "0000166616" "0000376173" "0000166616" "0000376229" "0000166616" "0000376230" "0000166616" "0000376258" "0000166616" "0000376259" "0000166616" "0000376285" "0000166616" "0000376286" "0000166616" "0000376336" "0000166616" "0000376373" "0000166616" "0000376399" "0000166616" "0000376422" "0000166616" "0000376460" "0000166616" "0000376461" "0000166616" "0000376527" "0000166616" "0000376528" "0000166616" "0000376580" "0000166616" "0000376677" "0000166616" "0000376680" "0000166616" "0000376681" "0000166616" "0000376686" "0000166616" "0000376687" "0000166617" "0000376696" "0000166617" "0000376715" "0000166618" "0000376716" "0000166618" "0000376718" "0000166619" "0000376717" "0000166619" "0000376719" "0000166620" "0000375784" "0000166620" "0000375787" "0000166621" "0000376206" "0000166621" "0000376307" "0000166622" "0000376720" "0000166622" "0000376721" "0000166623" "0000376722" "0000166623" "0000376726" "0000166624" "0000376727" "0000166624" "0000376737" "0000166625" "0000376752" "0000166625" "0000376753" "0000166626" "0000375785" "0000166627" "0000375786" "0000166627" "0000375788" "0000166628" "0000376440" "0000166628" "0000376755" "0000166629" "0000376756" "0000166630" "0000376757" "0000166630" "0000376760" "0000166631" "0000376761" "0000166632" "0000376762" "0000166633" "0000375750" "0000166634" "0000376763" "0000166634" "0000376764" "0000166635" "0000376765" "0000166635" "0000376767" "0000166636" "0000376770" "0000166636" "0000376778" "0000166637" "0000376771" "0000166637" "0000376779" "0000166638" "0000376772" "0000166638" "0000376780" "0000166639" "0000376776" "0000166639" "0000376817" "0000166640" "0000376766" "0000166640" "0000376781" "0000166641" "0000376821" "0000166641" "0000376825" "0000166642" "0000376822" "0000166642" "0000376826" "0000166643" "0000376823" "0000166643" "0000376834" "0000166644" "0000376824" "0000166644" "0000376835" "0000166645" "0000376736" "0000166646" "0000376734" "0000166647" "0000376735" "0000166648" "0000375776" "0000166649" "0000375777" "0000166650" "0000376841" "0000166650" "0000376843" "0000166651" "0000376842" "0000166651" "0000376844" "0000166652" "0000376827" "0000166652" "0000376830" "0000166653" "0000376828" "0000166653" "0000376836" "0000166654" "0000376829" "0000166654" "0000376837" "0000166655" "0000376738" "0000166656" "0000375791" "0000166656" "0000376739" "0000166657" "0000375789" "0000166657" "0000377605" "0000166658" "0000376754" "0000166658" "0000376847" "0000166659" "0000376308" "0000166659" "0000376634" "0000166660" "0000375790" "0000166660" "0000375792" "0000166661" "0000376845" "0000166661" "0000376850" "0000166662" "0000375793" "0000166662" "0000376740" "0000166663" "0000376741" "0000166664" "0000376838" "0000166665" "0000376742" "0000166665" "0000376743" "0000166666" "0000376633" "0000166667" "0000376846" "0000166667" "0000376848" "0000166668" "0000376852" "0000166668" "0000376856" "0000166669" "0000376853" "0000166669" "0000376857" "0000166670" "0000376854" "0000166670" "0000376858" "0000166671" "0000376855" "0000166671" "0000376859" "0000166672" "0000376868" "0000166672" "0000376870" "0000166673" "0000376869" "0000166673" "0000376871" "0000166674" "0000376872" "0000166674" "0000376875" "0000166675" "0000376873" "0000166675" "0000376876" "0000166676" "0000376874" "0000166676" "0000376877" "0000166677" "0000376886" "0000166677" "0000376893" "0000166678" "0000376887" "0000166678" "0000376894" "0000166679" "0000376888" "0000166679" "0000376895" "0000166680" "0000376889" "0000166680" "0000376896" "0000166681" "0000376890" "0000166681" "0000376897" "0000166682" "0000376891" "0000166682" "0000376898" "0000166683" "0000376892" "0000166683" "0000376899" "0000166684" "0000376900" "0000166684" "0000376904" "0000166685" "0000376901" "0000166685" "0000376905" "0000166686" "0000376902" "0000166686" "0000376906" "0000166687" "0000376903" "0000166687" "0000376907" "0000166688" "0000376908" "0000166688" "0000376913" "0000166689" "0000376909" "0000166689" "0000376914" "0000166690" "0000376910" "0000166690" "0000376915" "0000166691" "0000376911" "0000166691" "0000376916" "0000166692" "0000376912" "0000166692" "0000376917" "0000166693" "0000376930" "0000166693" "0000376934" "0000166694" "0000376931" "0000166694" "0000376935" "0000166695" "0000376932" "0000166695" "0000376936" "0000166696" "0000376933" "0000166696" "0000376937" "0000166697" "0000376938" "0000166697" "0000376943" "0000166697" "0000376948" "0000166697" "0000376949" "0000166698" "0000376939" "0000166698" "0000376944" "0000166698" "0000376950" "0000166698" "0000376951" "0000166699" "0000376940" "0000166699" "0000376945" "0000166699" "0000376952" "0000166699" "0000376953" "0000166700" "0000376941" "0000166700" "0000376946" "0000166700" "0000376954" "0000166700" "0000376955" "0000166701" "0000376942" "0000166701" "0000376947" "0000166701" "0000376956" "0000166701" "0000376957" "0000166702" "0000376958" "0000166702" "0000376962" "0000166703" "0000376959" "0000166703" "0000376963" "0000166704" "0000376960" "0000166704" "0000376964" "0000166705" "0000376961" "0000166705" "0000376965" "0000166706" "0000376984" "0000166706" "0000376985" "0000166707" "0000376990" "0000166708" "0000376991" "0000166709" "0000376992" "0000166710" "0000376993" "0000166711" "0000376730" "0000166712" "0000376731" "0000166713" "0000375766" "0000166714" "0000375767" "0000166715" "0000376994" "0000166716" "0000376995" "0000166717" "0000376996" "0000166718" "0000376997" "0000166719" "0000376998" "0000166719" "0000377001" "0000166720" "0000376999" "0000166720" "0000377002" "0000166721" "0000376699" "0000166721" "0000376711" "0000166722" "0000376700" "0000166722" "0000376712" "0000166723" "0000377008" "0000166724" "0000377009" "0000166725" "0000376701" "0000166725" "0000377003" "0000166726" "0000376702" "0000166726" "0000377004" "0000166727" "0000377000" "0000166728" "0000376703" "0000166729" "0000376704" "0000166729" "0000377005" "0000166730" "0000376705" "0000166730" "0000377006" "0000166731" "0000376706" "0000166732" "0000376707" "0000166732" "0000377010" "0000166733" "0000376708" "0000166734" "0000376709" "0000166734" "0000376713" "0000166735" "0000376710" "0000166735" "0000376714" "0000166736" "0000375748" "0000166737" "0000375749" "0000166738" "0000376840" "0000166739" "0000377011" "0000166740" "0000377012" "0000166741" "0000376820" "0000166741" "0000376849" "0000166742" "0000377014" "0000166742" "0000377016" "0000166743" "0000377015" "0000166743" "0000377017" "0000166744" "0000376728" "0000166744" "0000377018" "0000166745" "0000376729" "0000166745" "0000377019" "0000166746" "0000377020" "0000166746" "0000377022" "0000166747" "0000377021" "0000166747" "0000377023" "0000166748" "0000376627" "0000166748" "0000376628" "0000166749" "0000377030" "0000166749" "0000377031" "0000166750" "0000377032" "0000166750" "0000377033" "0000166751" "0000375726" "0000166752" "0000376676" "0000166753" "0000375771" "0000166753" "0000376732" "0000166754" "0000375772" "0000166754" "0000376733" "0000166755" "0000377034" "0000166756" "0000377036" "0000166756" "0000377037" "0000166757" "0000377038" "0000166758" "0000375773" "0000166758" "0000376504" "0000166759" "0000375721" "0000166759" "0000375723" "0000166760" "0000377043" "0000166761" "0000377044" "0000166762" "0000375724" "0000166762" "0000377045" "0000166763" "0000375725" "0000166763" "0000377046" "0000166764" "0000375722" "0000166765" "0000375727" "0000166765" "0000375729" "0000166766" "0000375728" "0000166766" "0000375730" "0000166767" "0000377047" "0000166768" "0000377048" "0000166769" "0000375768" "0000166769" "0000375774" "0000166770" "0000375769" "0000166771" "0000376303" "0000166772" "0000376304" "0000166773" "0000376305" "0000166774" "0000376631" "0000166774" "0000376632" "0000166775" "0000377049" "0000166775" "0000377050" "0000166776" "0000377052" "0000166777" "0000377053" "0000166778" "0000377054" "0000166779" "0000376860" "0000166779" "0000376861" "0000166780" "0000377025" "0000166781" "0000377026" "0000166782" "0000377027" "0000166783" "0000377028" "0000166784" "0000377029" "0000166785" "0000377055" "0000166785" "0000377056" "0000166786" "0000376629" "0000166786" "0000376630" "0000166787" "0000377051" "0000166788" "0000375710" "0000166788" "0000375999" "0000166788" "0000376011" "0000166788" "0000376059" "0000166788" "0000376076" "0000166788" "0000376088" "0000166788" "0000376136" "0000166788" "0000376174" "0000166788" "0000376203" "0000166788" "0000376231" "0000166788" "0000376260" "0000166788" "0000376287" "0000166788" "0000376337" "0000166788" "0000376374" "0000166788" "0000376400" "0000166788" "0000376401" "0000166788" "0000376412" "0000166788" "0000376462" "0000166788" "0000376481" "0000166788" "0000376482" "0000166788" "0000376494" "0000166788" "0000376529" "0000166788" "0000376554" "0000166788" "0000376601" "0000166788" "0000377057" "0000166788" "0000377058" "0000166788" "0000377062" "0000166788" "0000377065" "0000166790" "0000375953" "0000166790" "0000375954" "0000166790" "0000376027" "0000166790" "0000376028" "0000166790" "0000376032" "0000166790" "0000376033" "0000166790" "0000376035" "0000166790" "0000376036" "0000166790" "0000376099" "0000166790" "0000376100" "0000166790" "0000376123" "0000166790" "0000376124" "0000166790" "0000376163" "0000166790" "0000376164" "0000166790" "0000376192" "0000166790" "0000376193" "0000166790" "0000376208" "0000166790" "0000376209" "0000166790" "0000376221" "0000166790" "0000376222" "0000166790" "0000376248" "0000166790" "0000376249" "0000166790" "0000376277" "0000166790" "0000376278" "0000166790" "0000376392" "0000166790" "0000376393" "0000166790" "0000376517" "0000166790" "0000376518" "0000166790" "0000376643" "0000166790" "0000376644" "0000166790" "0000376682" "0000166790" "0000376684" "0000166790" "0000377081" "0000166790" "0000377082" "0000166791" "0000377080" "0000166791" "0000377083" "0000166794" "0000375955" "0000166794" "0000375964" "0000166794" "0000376000" "0000166794" "0000376001" "0000166794" "0000376137" "0000166794" "0000376138" "0000166794" "0000376175" "0000166794" "0000376176" "0000166794" "0000376232" "0000166794" "0000376233" "0000166794" "0000376261" "0000166794" "0000376262" "0000166794" "0000376288" "0000166794" "0000376289" "0000166794" "0000376463" "0000166794" "0000376464" "0000166794" "0000376530" "0000166794" "0000376531" "0000166794" "0000376582" "0000166794" "0000376583" "0000166794" "0000377092" "0000166794" "0000377093" "0000166794" "0000377100" "0000166794" "0000377101" "0000166800" "0000375770" "0000166800" "0000375775" "0000167126" "0000377024" "0000167348" "0000375972" "0000167348" "0000375973" "0000167348" "0000375992" "0000167348" "0000375993" "0000167348" "0000376023" "0000167348" "0000376024" "0000167348" "0000376125" "0000167348" "0000376126" "0000167348" "0000376165" "0000167348" "0000376166" "0000167348" "0000376223" "0000167348" "0000376224" "0000167348" "0000376250" "0000167348" "0000376251" "0000167348" "0000376279" "0000167348" "0000376280" "0000167348" "0000376324" "0000167348" "0000376325" "0000167348" "0000376363" "0000167348" "0000376364" "0000167348" "0000376409" "0000167348" "0000376410" "0000167348" "0000376454" "0000167348" "0000376455" "0000167348" "0000376519" "0000167348" "0000376520" "0000167348" "0000376683" "0000167348" "0000376685" "0000167348" "0000377098" "0000167348" "0000377099" "0000167348" "0000377104" "0000167348" "0000377105" "0000167348" "0000377111" "0000167348" "0000377112" "0000167348" "0000377113" "0000167348" "0000377114" "0000167350" "0000375931" "0000167350" "0000375956" "0000167350" "0000376017" "0000167350" "0000376066" "0000167350" "0000376077" "0000167350" "0000376089" "0000167350" "0000376139" "0000167350" "0000376140" "0000167350" "0000376177" "0000167350" "0000376178" "0000167350" "0000376263" "0000167350" "0000376290" "0000167350" "0000376338" "0000167350" "0000376339" "0000167350" "0000376375" "0000167350" "0000376376" "0000167350" "0000376402" "0000167350" "0000376423" "0000167350" "0000376424" "0000167350" "0000376465" "0000167350" "0000376466" "0000167350" "0000376495" "0000167350" "0000376532" "0000167350" "0000376533" "0000167350" "0000376653" "0000167350" "0000376667" "0000167350" "0000377115" "0000167350" "0000377117" "0000167350" "0000377120" "0000167350" "0000377121" "0000167350" "0000377122" "0000167351" "0000375965" "0000167351" "0000376002" "0000167351" "0000376003" "0000167351" "0000376141" "0000167351" "0000376142" "0000167351" "0000376179" "0000167351" "0000376180" "0000167351" "0000376264" "0000167351" "0000376340" "0000167351" "0000376377" "0000167351" "0000376425" "0000167351" "0000376467" "0000167351" "0000376468" "0000167351" "0000376534" "0000167351" "0000376535" "0000167351" "0000376688" "0000167351" "0000376689" "0000167351" "0000377063" "0000167351" "0000377125" "0000167351" "0000377126" "0000167351" "0000377142" "0000167352" "0000375796" "0000167352" "0000375797" "0000167352" "0000375857" "0000167352" "0000375858" "0000167352" "0000375874" "0000167352" "0000375875" "0000167352" "0000375893" "0000167352" "0000375894" "0000167352" "0000375913" "0000167352" "0000375914" "0000167352" "0000375932" "0000167352" "0000375933" "0000167352" "0000375966" "0000167352" "0000375967" "0000167352" "0000376012" "0000167352" "0000376013" "0000167352" "0000376050" "0000167352" "0000376051" "0000167352" "0000376067" "0000167352" "0000376068" "0000167352" "0000376090" "0000167352" "0000376091" "0000167352" "0000376143" "0000167352" "0000376144" "0000167352" "0000376181" "0000167352" "0000376182" "0000167352" "0000376234" "0000167352" "0000376235" "0000167352" "0000376265" "0000167352" "0000376266" "0000167352" "0000376291" "0000167352" "0000376292" "0000167352" "0000376341" "0000167352" "0000376342" "0000167352" "0000376378" "0000167352" "0000376379" "0000167352" "0000376426" "0000167352" "0000376427" "0000167352" "0000376496" "0000167352" "0000376497" "0000167352" "0000376536" "0000167352" "0000376537" "0000167352" "0000376555" "0000167352" "0000376556" "0000167352" "0000376593" "0000167352" "0000376594" "0000167352" "0000376657" "0000167352" "0000376658" "0000167352" "0000376668" "0000167352" "0000376669" "0000167352" "0000376673" "0000167352" "0000376674" "0000167352" "0000376690" "0000167352" "0000376691" "0000167352" "0000377064" "0000167352" "0000377066" "0000167352" "0000377106" "0000167352" "0000377107" "0000167352" "0000377123" "0000167352" "0000377124" "0000167352" "0000377130" "0000167352" "0000377131" "0000167352" "0000377133" "0000167352" "0000377134" "0000167360" "0000376309" "0000167361" "0000377039" "0000167362" "0000375795" "0000167362" "0000377135" "0000167363" "0000376310" "0000167364" "0000376635" "0000167364" "0000377136" "0000167365" "0000375731" "0000167365" "0000377138" "0000167366" "0000377139" "0000167366" "0000377140" "0000167367" "0000376862" "0000167368" "0000375968" "0000167368" "0000376006" "0000167368" "0000376018" "0000167368" "0000376145" "0000167368" "0000376185" "0000167368" "0000376204" "0000167368" "0000376236" "0000167368" "0000376267" "0000167368" "0000376295" "0000167368" "0000376349" "0000167368" "0000376380" "0000167368" "0000376428" "0000167368" "0000376441" "0000167368" "0000376469" "0000167368" "0000376485" "0000167368" "0000376541" "0000167368" "0000376575" "0000167368" "0000376744" "0000167368" "0000377067" "0000167368" "0000377108" "0000167368" "0000377141" "0000167378" "0000376851" "0000167379" "0000377143" "0000167379" "0000377149" "0000167380" "0000377144" "0000167380" "0000377150" "0000167381" "0000377145" "0000167381" "0000377151" "0000167382" "0000377146" "0000167382" "0000377152" "0000167383" "0000377147" "0000167383" "0000377153" "0000167384" "0000377148" "0000167384" "0000377154" "0000167385" "0000377155" "0000167385" "0000377159" "0000167386" "0000377156" "0000167386" "0000377160" "0000167387" "0000377157" "0000167387" "0000377161" "0000167388" "0000377158" "0000167388" "0000377162" "0000167395" "0000377301" "0000167397" "0000377040" "0000167400" "0000377165" "0000167402" "0000375798" "0000167402" "0000377166" "0000167403" "0000377167" "0000167403" "0000377168" "0000167406" "0000377169" "0000167411" "0000376723" "0000167443" "0000376638" "0000167444" "0000377041" "0000167446" "0000375842" "0000167446" "0000375843" "0000167447" "0000376639" "0000167470" "0000377170" "0000167472" "0000377176" "0000167472" "0000377177" "0000167477" "0000377178" "0000167479" "0000377179" "0000167479" "0000377181" "0000167481" "0000377183" "0000167483" "0000377191" "0000167483" "0000377192" "0000167483" "0000377193" "0000167483" "0000377194" "0000167486" "0000377195" "0000167490" "0000377184" "0000167491" "0000377198" "0000167492" "0000377199" "0000167492" "0000377201" "0000167493" "0000377202" "0000167495" "0000377206" "0000167495" "0000377208" "0000167495" "0000377209" "0000167495" "0000377211" "0000167497" "0000375915" "0000167497" "0000376030" "0000167497" "0000376039" "0000167497" "0000376060" "0000167497" "0000376538" "0000167497" "0000377213" "0000167497" "0000377214" "0000167498" "0000377215" "0000167499" "0000376101" "0000167505" "0000376102" "0000167506" "0000376863" "0000167506" "0000376865" "0000167507" "0000376105" "0000167507" "0000376312" "0000167507" "0000377217" "0000167507" "0000377218" "0000167509" "0000377219" "0000167510" "0000377221" "0000167511" "0000376103" "0000167512" "0000377224" "0000167512" "0000377225" "0000167512" "0000377226" "0000167513" "0000376343" "0000167513" "0000376344" "0000167513" "0000376864" "0000167513" "0000377189" "0000167513" "0000377227" "0000167513" "0000377230" "0000167513" "0000377233" "0000167513" "0000377234" "0000167514" "0000377171" "0000167515" "0000376004" "0000167515" "0000376005" "0000167515" "0000376183" "0000167515" "0000376184" "0000167515" "0000376293" "0000167515" "0000376294" "0000167515" "0000376345" "0000167515" "0000376346" "0000167515" "0000376483" "0000167515" "0000376484" "0000167515" "0000376539" "0000167515" "0000376540" "0000167515" "0000377089" "0000167515" "0000377090" "0000167515" "0000377228" "0000167515" "0000377231" "0000167518" "0000377235" "0000167519" "0000377118" "0000167519" "0000377119" "0000167519" "0000377237" "0000167519" "0000377238" "0000167519" "0000377239" "0000167519" "0000377240" "0000167519" "0000377241" "0000167519" "0000377242" "0000167519" "0000377243" "0000167519" "0000377244" "0000167519" "0000377245" "0000167520" "0000376586" "0000167521" "0000377185" "0000167524" "0000376724" "0000167524" "0000377172" "0000167526" "0000377173" "0000167526" "0000377246" "0000167527" "0000376106" "0000167527" "0000377248" "0000167528" "0000377249" "0000167529" "0000377250" "0000167530" "0000377035" "0000167531" "0000377251" "0000167532" "0000376587" "0000167533" "0000377174" "0000167535" "0000377252" "0000167535" "0000377253" "0000167535" "0000377254" "0000167535" "0000377255" "0000167536" "0000377175" "0000167536" "0000377216" "0000167536" "0000377256" "0000167537" "0000377186" "0000167537" "0000377257" "0000167538" "0000377222" "0000167543" "0000377258" "0000167545" "0000377260" "0000167547" "0000377261" "0000167551" "0000377262" "0000167552" "0000377263" "0000167552" "0000377264" "0000167553" "0000377265" "0000167554" "0000377266" "0000167555" "0000377272" "0000167557" "0000376347" "0000167557" "0000376348" "0000167557" "0000377229" "0000167557" "0000377273" "0000167557" "0000377274" "0000167557" "0000377277" "0000167561" "0000377196" "0000167561" "0000377220" "0000167563" "0000377278" "0000167564" "0000377259" "0000167565" "0000377279" "0000167566" "0000377280" "0000167566" "0000377281" "0000167571" "0000377282" "0000167575" "0000377283" "0000167575" "0000377284" "0000167576" "0000376588" "0000167577" "0000377180" "0000167577" "0000377190" "0000167578" "0000377275" "0000167578" "0000377285" "0000167579" "0000376211" "0000167579" "0000376212" "0000167579" "0000377203" "0000167579" "0000377205" "0000167579" "0000377268" "0000167579" "0000377269" "0000167579" "0000377287" "0000167579" "0000377288" "0000167580" "0000377187" "0000167580" "0000377289" "0000167581" "0000376107" "0000167581" "0000377290" "0000167582" "0000377200" "0000167586" "0000376108" "0000167586" "0000377204" "0000167586" "0000377270" "0000167588" "0000376589" "0000167589" "0000376109" "0000167589" "0000376590" "0000167589" "0000377271" "0000167589" "0000377291" "0000167591" "0000377247" "0000167591" "0000377293" "0000167593" "0000377188" "0000167594" "0000377294" "0000167594" "0000377295" "0000167594" "0000377296" "0000167595" "0000377297" "0000167595" "0000377298" "0000167599" "0000377302" "0000167602" "0000377267" "0000167605" "0000377303" "0000167605" "0000377304" "0000167609" "0000376104" "0000167609" "0000376313" "0000167612" "0000377305" "0000167614" "0000377276" "0000167614" "0000377286" "0000167615" "0000377306" "0000167616" "0000377232" "0000167616" "0000377236" "0000167616" "0000377292" "0000167621" "0000377307" "0000167623" "0000377308" "0000167624" "0000377207" "0000167624" "0000377210" "0000167624" "0000377310" "0000167626" "0000377182" "0000167626" "0000377311" "0000167627" "0000377223" "0000167629" "0000377312" "0000167632" "0000377313" "0000167634" "0000377300" "0000167637" "0000376110" "0000167637" "0000377197" "0000167637" "0000377314" "0000167648" "0000377315" "0000167648" "0000377322" "0000167649" "0000377316" "0000167649" "0000377323" "0000167650" "0000377317" "0000167650" "0000377324" "0000167651" "0000377318" "0000167651" "0000377325" "0000167652" "0000377319" "0000167652" "0000377326" "0000167653" "0000377320" "0000167653" "0000377327" "0000167654" "0000377321" "0000167654" "0000377328" "0000167655" "0000376966" "0000167655" "0000376974" "0000167656" "0000376967" "0000167656" "0000376975" "0000167657" "0000376968" "0000167657" "0000376976" "0000167658" "0000376969" "0000167658" "0000376977" "0000167659" "0000376970" "0000167659" "0000376978" "0000167660" "0000376971" "0000167660" "0000376979" "0000167661" "0000376972" "0000167661" "0000376980" "0000167662" "0000376973" "0000167662" "0000376981" "0000167663" "0000377329" "0000167663" "0000377332" "0000167663" "0000377335" "0000167663" "0000377336" "0000167663" "0000377341" "0000167663" "0000377342" "0000167664" "0000377330" "0000167664" "0000377333" "0000167664" "0000377337" "0000167664" "0000377338" "0000167664" "0000377343" "0000167664" "0000377344" "0000167665" "0000377331" "0000167665" "0000377334" "0000167665" "0000377339" "0000167665" "0000377340" "0000167665" "0000377345" "0000167665" "0000377346" "0000167666" "0000377347" "0000167666" "0000377350" "0000167667" "0000377348" "0000167667" "0000377351" "0000167668" "0000377349" "0000167668" "0000377352" "0000167669" "0000376986" "0000167669" "0000376988" "0000167670" "0000376987" "0000167670" "0000376989" "0000167671" "0000376918" "0000167671" "0000376924" "0000167672" "0000376919" "0000167672" "0000376925" "0000167673" "0000376920" "0000167673" "0000376926" "0000167674" "0000376921" "0000167674" "0000376927" "0000167675" "0000376922" "0000167675" "0000376928" "0000167676" "0000376923" "0000167676" "0000376929" "0000167677" "0000376878" "0000167677" "0000376882" "0000167678" "0000376879" "0000167678" "0000376883" "0000167679" "0000376880" "0000167679" "0000376884" "0000167680" "0000376881" "0000167680" "0000376885" "0000167681" "0000377353" "0000167681" "0000377357" "0000167682" "0000377354" "0000167682" "0000377358" "0000167683" "0000377355" "0000167683" "0000377359" "0000167684" "0000377356" "0000167684" "0000377360" "0000167685" "0000377361" "0000167685" "0000377368" "0000167686" "0000377362" "0000167686" "0000377369" "0000167687" "0000377363" "0000167687" "0000377370" "0000167688" "0000377364" "0000167688" "0000377371" "0000167689" "0000377365" "0000167689" "0000377372" "0000167690" "0000377366" "0000167690" "0000377373" "0000167691" "0000377367" "0000167691" "0000377374" "0000167692" "0000377375" "0000167692" "0000377379" "0000167693" "0000377376" "0000167693" "0000377380" "0000167694" "0000377377" "0000167694" "0000377381" "0000167695" "0000377378" "0000167695" "0000377382" "0000167696" "0000377383" "0000167696" "0000377386" "0000167697" "0000377384" "0000167697" "0000377387" "0000167698" "0000377385" "0000167698" "0000377388" "0000167699" "0000377389" "0000167699" "0000377394" "0000167700" "0000377390" "0000167700" "0000377395" "0000167701" "0000377391" "0000167701" "0000377396" "0000167702" "0000377392" "0000167702" "0000377397" "0000167703" "0000377393" "0000167703" "0000377398" "0000167704" "0000375799" "0000167704" "0000375816" "0000167705" "0000375800" "0000167705" "0000375817" "0000167706" "0000375801" "0000167706" "0000375818" "0000167707" "0000375802" "0000167707" "0000375819" "0000167708" "0000375803" "0000167708" "0000375820" "0000167709" "0000375804" "0000167709" "0000375821" "0000167710" "0000375805" "0000167710" "0000375822" "0000167711" "0000375806" "0000167711" "0000375823" "0000167712" "0000375807" "0000167712" "0000375824" "0000167713" "0000375808" "0000167713" "0000375825" "0000167714" "0000375809" "0000167714" "0000375826" "0000167715" "0000375810" "0000167715" "0000375827" "0000167716" "0000375811" "0000167716" "0000375828" "0000167717" "0000375812" "0000167717" "0000375829" "0000167718" "0000375813" "0000167718" "0000375830" "0000167719" "0000375814" "0000167719" "0000375831" "0000167720" "0000375815" "0000167720" "0000375832" "0000167721" "0000377399" "0000167721" "0000377405" "0000167722" "0000377400" "0000167722" "0000377406" "0000167723" "0000377401" "0000167723" "0000377407" "0000167724" "0000377402" "0000167724" "0000377408" "0000167725" "0000377403" "0000167725" "0000377409" "0000167726" "0000377404" "0000167726" "0000377410" "0000167727" "0000377411" "0000167727" "0000377414" "0000167728" "0000377412" "0000167728" "0000377415" "0000167729" "0000377413" "0000167729" "0000377416" "0000167730" "0000377417" "0000167730" "0000377420" "0000167731" "0000377418" "0000167731" "0000377421" "0000167732" "0000377419" "0000167732" "0000377422" "0000167733" "0000377423" "0000167733" "0000377427" "0000167734" "0000377424" "0000167734" "0000377428" "0000167735" "0000377425" "0000167735" "0000377429" "0000167736" "0000377426" "0000167736" "0000377430" "0000167737" "0000377431" "0000167737" "0000377434" "0000167738" "0000377432" "0000167738" "0000377435" "0000167739" "0000377433" "0000167739" "0000377436" "0000167740" "0000377437" "0000167740" "0000377443" "0000167741" "0000377438" "0000167741" "0000377444" "0000167742" "0000377439" "0000167742" "0000377445" "0000167743" "0000377440" "0000167743" "0000377446" "0000167744" "0000377441" "0000167744" "0000377447" "0000167745" "0000377442" "0000167745" "0000377448" "0000167746" "0000377449" "0000167746" "0000377450" "0000167747" "0000377451" "0000167747" "0000377456" "0000167748" "0000376678" "0000167748" "0000377457" "0000167749" "0000375735" "0000167749" "0000376679" "0000167750" "0000375732" "0000167750" "0000377454" "0000167751" "0000375733" "0000167751" "0000376831" "0000167752" "0000375734" "0000167752" "0000376832" "0000167753" "0000377458" "0000167753" "0000377463" "0000167754" "0000377459" "0000167754" "0000377464" "0000167755" "0000377460" "0000167755" "0000377465" "0000167756" "0000377461" "0000167756" "0000377466" "0000167757" "0000377462" "0000167757" "0000377467" "0000167758" "0000377468" "0000167758" "0000377469" "0000167759" "0000377470" "0000167759" "0000377471" "0000167760" "0000375833" "0000167760" "0000377472" "0000167761" "0000375834" "0000167761" "0000377473" "0000167762" "0000377452" "0000167763" "0000377474" "0000167779" "0000377299" "0000167779" "0000377475" "0000167779" "0000377477" "0000167916" "0000377479" "0000167916" "0000377488" "0000167917" "0000377480" "0000167917" "0000377489" "0000167918" "0000377481" "0000167918" "0000377490" "0000167919" "0000377482" "0000167919" "0000377491" "0000167920" "0000377483" "0000167920" "0000377492" "0000167921" "0000377484" "0000167921" "0000377493" "0000167922" "0000377485" "0000167922" "0000377494" "0000167923" "0000377486" "0000167923" "0000377495" "0000167924" "0000377487" "0000167924" "0000377496" "0000167925" "0000377497" "0000167925" "0000377499" "0000167926" "0000377498" "0000167926" "0000377500" "0000167934" "0000377541" "0000167953" "0000376783" "0000167953" "0000376798" "0000167954" "0000376784" "0000167954" "0000376799" "0000167955" "0000376785" "0000167955" "0000376800" "0000167956" "0000376786" "0000167956" "0000376801" "0000167957" "0000376787" "0000167957" "0000376802" "0000167958" "0000376788" "0000167958" "0000376803" "0000167959" "0000376789" "0000167959" "0000376804" "0000167960" "0000376790" "0000167960" "0000376805" "0000167961" "0000376791" "0000167961" "0000376806" "0000167962" "0000376768" "0000167962" "0000376769" "0000167963" "0000377501" "0000167964" "0000377502" "0000167965" "0000377505" "0000167966" "0000377476" "0000167967" "0000377507" "0000167968" "0000377508" "0000167969" "0000377509" "0000167970" "0000377510" "0000167971" "0000377127" "0000167972" "0000377128" "0000167973" "0000377129" "0000167974" "0000377511" "0000167975" "0000377512" "0000167976" "0000377513" "0000167977" "0000377514" "0000167978" "0000377515" "0000167979" "0000377516" "0000167980" "0000377517" "0000167981" "0000377503" "0000167981" "0000377504" "0000167982" "0000376773" "0000167982" "0000376807" "0000167983" "0000376774" "0000167983" "0000376808" "0000167984" "0000376775" "0000167984" "0000376809" "0000167985" "0000376792" "0000167985" "0000377518" "0000167986" "0000376818" "0000167986" "0000377478" "0000167986" "0000377519" "0000167987" "0000376793" "0000167987" "0000377522" "0000167988" "0000376794" "0000167988" "0000377524" "0000167989" "0000376795" "0000167989" "0000377525" "0000167990" "0000376796" "0000167990" "0000377526" "0000167991" "0000376797" "0000167991" "0000376819" "0000168003" "0000377529" "0000168003" "0000377530" "0000168011" "0000377531" "0000168012" "0000375969" "0000168012" "0000375974" "0000168012" "0000377068" "0000168012" "0000377069" "0000168012" "0000377532" "0000168012" "0000377533" "0000168013" "0000376014" "0000168013" "0000376576" "0000168013" "0000377534" "0000168013" "0000377537" "0000168014" "0000377540" "0000168022" "0000375835" "0000168023" "0000377542" "0000168024" "0000376015" "0000168024" "0000376577" "0000168024" "0000377535" "0000168024" "0000377538" "0000168027" "0000375753" "0000168027" "0000377543" "0000168027" "0000377544" "0000168028" "0000377547" "0000168031" "0000377545" "0000168031" "0000377546" "0000168042" "0000377548" "0000168042" "0000377549" "0000168043" "0000377551" "0000168043" "0000377552" "0000168115" "0000377506" "0000168148" "0000377553" "0000168148" "0000377555" "0000168149" "0000377557" "0000168149" "0000377559" "0000168150" "0000377558" "0000168150" "0000377560" "0000168151" "0000377554" "0000168151" "0000377556" "0000168152" "0000377561" "0000168152" "0000377563" "0000168153" "0000377562" "0000168153" "0000377564" "0000168154" "0000377565" "0000168154" "0000377567" "0000168155" "0000377566" "0000168155" "0000377568" "0000168156" "0000377569" "0000168157" "0000377570" "0000168158" "0000376982" "0000168158" "0000376983" "0000168159" "0000377309" "0000168160" "0000376810" "0000168161" "0000376811" "0000168162" "0000376812" "0000168163" "0000376506" "0000168175" "0000376777" "0000168175" "0000376782" "0000168176" "0000377574" "0000168177" "0000377571" "0000168177" "0000377572" "0000168178" "0000376571" "0000168178" "0000377573" "0000168179" "0000376866" "0000168179" "0000376867" "0000168320" "0000375896" "0000168320" "0000375916" "0000168320" "0000376007" "0000168320" "0000376052" "0000168320" "0000376186" "0000168320" "0000376187" "0000168320" "0000376403" "0000168320" "0000376429" "0000168320" "0000376430" "0000168320" "0000376542" "0000168320" "0000376543" "0000168320" "0000376596" "0000168320" "0000376597" "0000168320" "0000376661" "0000168320" "0000377575" "0000168320" "0000377576" "0000168321" "0000375897" "0000168321" "0000375917" "0000168321" "0000376053" "0000168321" "0000376111" "0000168321" "0000376188" "0000168321" "0000376404" "0000168321" "0000376431" "0000168321" "0000376432" "0000168321" "0000376544" "0000168321" "0000376595" "0000168321" "0000376662" "0000168321" "0000377137" "0000168322" "0000375895" "0000168322" "0000375898" "0000168322" "0000375918" "0000168322" "0000375919" "0000168322" "0000376054" "0000168322" "0000376055" "0000168322" "0000376189" "0000168322" "0000376190" "0000168322" "0000376433" "0000168322" "0000376486" "0000168322" "0000376545" "0000168322" "0000376546" "0000168322" "0000376598" "0000168322" "0000376599" "0000168322" "0000376663" "0000168322" "0000376664" "0000168326" "0000377577" "0000168326" "0000377579" "0000168506" "0000377578" "0000168506" "0000377580" "0000168515" "0000377581" "0000168515" "0000377586" "0000168516" "0000377582" "0000168516" "0000377587" "0000168517" "0000377583" "0000168517" "0000377588" "0000168518" "0000377584" "0000168518" "0000377589" "0000168519" "0000377585" "0000168519" "0000377590" "0000168520" "0000377591" "0000168520" "0000377595" "0000168521" "0000377592" "0000168521" "0000377596" "0000168522" "0000377593" "0000168522" "0000377597" "0000168523" "0000377594" "0000168523" "0000377598" "0000168524" "0000377599" "0000168524" "0000377602" "0000168525" "0000377600" "0000168525" "0000377603" "0000168526" "0000377601" "0000168526" "0000377604" "0000168528" "0000377453" "0000168528" "0000377455" "0000168529" "0000376442" "0000168529" "0000376443" "0000168531" "0000377608" "0000168531" "0000377609" "0000168534" "0000376758" "0000168534" "0000376759" "0000168545" "0000377611" "0000168546" "0000376640" "0000168547" "0000375980" "0000168547" "0000377612" "0000168549" "0000375981" "0000168549" "0000377613" "0000168550" "0000377614" "0000168550" "0000377615" "0000168551" "0000377616" "0000168552" "0000377617" "0000168552" "0000377618" "0000168553" "0000377619" "0000168554" "0000377060" "0000168554" "0000377620" "0000168555" "0000377059" "0000168555" "0000377621" "0000168556" "0000377622" "0000168556" "0000377623" "0000168556" "0000377629" "0000168557" "0000375836" "0000168557" "0000377624" "0000168558" "0000375736" "0000168558" "0000377625" "0000168559" "0000376839" "0000168559" "0000377042" "0000168559" "0000377626" "0000168560" "0000375737" "0000168560" "0000377627" "0000168561" "0000375738" "0000168561" "0000377061" "0000168562" "0000377628" "0000168573" "0000375739" "0000168575" "0000376816" "0000168575" "0000377630" "0000168576" "0000377523" "0000168576" "0000377631" "0000168577" "0000377520" "0000168577" "0000377632" "0000168578" "0000377521" "0000168578" "0000377633" "0000168579" "0000377527" "0000168579" "0000377634" "0000168580" "0000377528" "0000168580" "0000377635" "0000168581" "0000377094" "0000168581" "0000377096" "0000168583" "0000377095" "0000168583" "0000377097" "0000168584" "0000377636" "0000168584" "0000377637" "0000168586" "0000377638" "0000168587" "0000377640" "0000168587" "0000377642" "0000168588" "0000377643" "0000168589" "0000377644" "0000168590" "0000377550" "0000168590" "0000377645" "0000168591" "0000377641" "0000168591" "0000377646" "0000168592" "0000377647" "0000168593" "0000377648" "0000168594" "0000377649" "0000168595" "0000377650" "0000168596" "0000376814" "0000168596" "0000377651" "0000168597" "0000376815" "0000168597" "0000377652" "0000168598" "0000376813" "0000168598" "0000377013" "0000168599" "0000377653" "0000168600" "0000377639" "0000168601" "0000377654" "0000168602" "0000377655" "0000168603" "0000377132" "0000168603" "0000377212" "0000168665" "0000377678" "0000168666" "0000376745" "0000168666" "0000377657" "0000168667" "0000376746" "0000168667" "0000377658" "0000168668" "0000376747" "0000168668" "0000377659" "0000168669" "0000375837" "0000168669" "0000377656" "0000168670" "0000375838" "0000168670" "0000376749" "0000168671" "0000376748" "0000168672" "0000377660" "0000168672" "0000377661" "0000168673" "0000376444" "0000168673" "0000376445" "0000168674" "0000377662" "0000168674" "0000377663" "0000168675" "0000376654" "0000168675" "0000377116" "0000168676" "0000376559" "0000168676" "0000377664" "0000168677" "0000377665" "0000168677" "0000377666" "0000168678" "0000377667" "0000168679" "0000377668" "0000168680" "0000377669" "0000168681" "0000377670" "0000168681" "0000377671" "0000168682" "0000376725" "0000168682" "0000377672" "0000168683" "0000377673" "0000168683" "0000377674" "0000168684" "0000377675" "0000168684" "0000377676" "0000168685" "0000376833" "0000168685" "0000377677" "0000168733" "0000377679" "0000168733" "0000377680" "0000168734" "0000377606" "0000168734" "0000377607" "0000168735" "0000377681" "0000168735" "0000377682" "0000168736" "0000377683" "0000168736" "0000377684" "0000168737" "0000376697" "0000168737" "0000376698" "0000168738" "0000377536" "0000168738" "0000377539" "0000168905" "0000377685" "0000168906" "0000377687" "0000168906" "0000377688" "0000168907" "0000377690" "0000168914" "0000377007" "0000182468" "0000406349" "0000182468" "0000406350" "0000182469" "0000406351" "0000182470" "0000406352" "0000208628" "0000438547" "0000208628" "0000438548" "0000219167" "0000454009" "0000219167" "0000454010" "0000291273" "0000647962" "0000291274" "0000647963" "0000291275" "0000647964" "0000291276" "0000647965" "0000291277" "0000647966" "0000291278" "0000647967" "0000291279" "0000647968" "0000291280" "0000647969" "0000291281" "0000647970" "0000291282" "0000647971" "0000291283" "0000647972" "0000291284" "0000647973" "0000291285" "0000647974" "0000291286" "0000647975" "0000291287" "0000647976" "0000291288" "0000647977" "0000291289" "0000647978" "0000291290" "0000647979" "0000291291" "0000647980" "0000291292" "0000647981" "0000291293" "0000647982" "0000291294" "0000647983" "0000291295" "0000647984" "0000291296" "0000647985" "0000291297" "0000647986" "0000291298" "0000647987" "0000291299" "0000647988" "0000291300" "0000647989" "0000300750" "0000663573" "0000305385" "0000669073" "0000305386" "0000669074" "0000305387" "0000669075" "0000305388" "0000669076" "0000305389" "0000669077" "0000305390" "0000669078" "0000305391" "0000669079" "0000308047" "0000674884" "0000309636" "0000684509" "0000309750" "0000684623" "0000309930" "0000684833" "0000309930" "0000684843" "0000309931" "0000684834" "0000309932" "0000684835" "0000309933" "0000684836" "0000309933" "0000684844" "0000309937" "0000684840" "0000310161" "0000685072" "0000310704" "0000685652" "0000310709" "0000685657" "0000310725" "0000685673" "0000310725" "0000685717" "0000310739" "0000685687" "0000310740" "0000685688" "0000310740" "0000685725" "0000310752" "0000685700" "0000315946" "0000698054" "0000316132" "0000698277" "0000316132" "0000698278" "0000328283" "0000712229" "0000328292" "0000712238" "0000328300" "0000712246" "0000328301" "0000712247" "0000328343" "0000712287" "0000328344" "0000712288" "0000328348" "0000712292" "0000328349" "0000712293" "0000328350" "0000712294" "0000328351" "0000712295" "0000328352" "0000712296" "0000328612" "0000712567" "0000328612" "0000712568" "0000328612" "0000712569" "0000332845" "0000730133" "0000332845" "0000730251" "0000332923" "0000730211" "0000332924" "0000730212" "0000333439" "0000731089" "0000333445" "0000731097" "0000333445" "0000731098" "0000333658" "0000731412" "0000333665" "0000731415" "0000334581" "0000732469" "0000334583" "0000732478" "0000334585" "0000732486" "0000334585" "0000732487" "0000334591" "0000732447" "0000334591" "0000732516" "0000335229" "0000733238" "0000335230" "0000733239" "0000335230" "0000733654" "0000335231" "0000733240" "0000335231" "0000733655" "0000335232" "0000733241" "0000335232" "0000733656" "0000336322" "0000735597" "0000336322" "0000735721" "0000336323" "0000735598" "0000336480" "0000735855" "0000336480" "0000735875" "0000337077" "0000736644" "0000337078" "0000736645" "0000337079" "0000736646" "0000337087" "0000736654" "0000337088" "0000736655" "0000337089" "0000736656" "0000337098" "0000736665" "0000360183" "0000759966" "0000360204" "0000760042" "0000360205" "0000760045" "0000360212" "0000760075" "0000360508" "0000760400" "0000360508" "0000760530" "0000360618" "0000760660" "0000360618" "0000760678" "0000363018" "0000763420" "0000364444" "0000765224" "0000364444" "0000765347" "0000364445" "0000765225" "0000364446" "0000765226" "0000364447" "0000765227" "0000364448" "0000765228" "0000364449" "0000765229" "0000364458" "0000765238" "0000369545" "0000816574" "0000369545" "0000816575" "0000374760" "0000785600" "0000375039" "0000786300" "0000375072" "0000786339" "0000375073" "0000786340" "0000375073" "0000786386" "0000375074" "0000786341" "0000375074" "0000786387" "0000376461" "0000788069" "0000376609" "0000788378" "0000376610" "0000788382" "0000376611" "0000788387" "0000376615" "0000788407" "0000376616" "0000788416" "0000376619" "0000788434" "0000376620" "0000788439" "0000376629" "0000788498" "0000376630" "0000788505" "0000381417" "0000794862" "0000382824" "0000796697" "0000383459" "0000797558" "0000383520" "0000797663" "0000383520" "0000797664" "0000383520" "0000797665" "0000383720" "0000797959" "0000383721" "0000797960" "0000383722" "0000797961" "0000383722" "0000797962" "0000383723" "0000797963" "0000383723" "0000797964" "0000385013" "0000811895" "0000385013" "0000811896" "0000386622" "0000814260" "0000386622" "0000814291" "0000387951" "0000816109" "0000387951" "0000816430" "0000388115" "0000816273" "0000388146" "0000816566" "0000388146" "0000816569" "0000388475" "0000817084" "0000388529" "0000817187" "0000388531" "0000817190" "0000388899" "0000817696" "0000388899" "0000817697" "0000390003" "0000819348" "0000390003" "0000820620" "0000390013" "0000819358" "0000390013" "0000820624" "0000390014" "0000819359" "0000390014" "0000820625" "0000390025" "0000819370" "0000390026" "0000819371" "0000390144" "0000819489" "0000390144" "0000820661" "0000390359" "0000819704" "0000390523" "0000819868" "0000390764" "0000820109" "0000391439" "0000821188" "0000392735" "0000823167" "0000395941" "0000827447" "0000395941" "0000827448" "0000395942" "0000827449" "0000395942" "0000827450" "0000395943" "0000827451" "0000395943" "0000827452" "0000395944" "0000827453" "0000395944" "0000827454" "0000395945" "0000827455" "0000395945" "0000827456" "0000396834" "0000828526" "0000397202" "0000829051" "0000397202" "0000829073" "0000397461" "0000829457" "0000397463" "0000829452" "0000397471" "0000829469" "0000397472" "0000829470" "0000397500" "0000829498" "0000397501" "0000829499" "0000397525" "0000829523" "0000397525" "0000829524" "0000397526" "0000829525" "0000397527" "0000829526" "0000397528" "0000829527" "0000397528" "0000829528" "0000403404" "0000838854" "0000412224" "0000869489" "0000412224" "0000869490" "0000412225" "0000869491" "0000412225" "0000869492" "0000412226" "0000869493" "0000412227" "0000869494" "0000412228" "0000869495" "0000429422" "0000908895" "0000429422" "0000908939" "0000442637" "0000943964" "0000442638" "0000943965" "0000442638" "0000944275" "0000442639" "0000943966" "0000442640" "0000943967" "0000442641" "0000943968" "0000442642" "0000943969" "0000442643" "0000943970" "0000442644" "0000943971" "0000442645" "0000943972" "0000442646" "0000943973" "0000442647" "0000943974" "0000442648" "0000943975" "0000442649" "0000943976" "0000442650" "0000943977" "0000442651" "0000943978" "0000442945" "0000944272" "0000442968" "0000944327" "0000443131" "0000944513" "0000448980" "0000958747" "0000449020" "0000958787" "0000449020" "0000959243" "0000449073" "0000958840" "0000449073" "0000959269" "0000449074" "0000958841" "0000449074" "0000959272" "0000449108" "0000958875" "0000449108" "0000959316" "0000449211" "0000958978" "0000449211" "0000959428" "0000455063" "0001007041" "0000455063" "0001007042" "0000466183" "0001030078"