### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = USH1C) # 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}}" "USH1C" "Usher syndrome 1C (autosomal recessive, severe)" "11" "p14.3" "unknown" "NG_011883.1" "UD_132084475519" "{PMID:Roux 2011:21436283}" "https://www.LOVD.nl/USH1C" "KMeyeDB \r\nUSMA (Usher Syndrome Missense Analysis \r\nDeafness Variation Database \r\nMoBiDiC " "1" "12597" "10083" "605242" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the USH1C database using: www.LOVD.nl/USH1C
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/USH1C_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 14:58:26" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000186" "USH1C" "Usher syndrome 1C (autosomal recessive, severe)" "001" "NM_153676.3" "" "NP_005700.2" "" "" "" "-109" "3137" "2700" "17565963" "17515442" "00002" "2012-05-11 13:12:22" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00669" "USH2C" "Usher syndrome,, type IIC (USH2C, GPR98/PDZD7 digenic)" "AR;DD" "605472" "" "" "" "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" "02117" "USH1C" "Usher syndrome, type 1C (USH-1C)" "AR" "276904" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02416" "DFNB18A" "deafness, autosomal recessive, type 18A" "AR" "602092" "" "" "" "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" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05414" "USH2" "Usher syndrome, type II (USH-2)" "" "" "" "" "" "00006" "2018-04-02 14:40:34" "00006" "2021-12-11 13:56:28" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "USH1C" "02115" "USH1C" "02117" "USH1C" "02416" "USH1C" "05400" "USH1C" "05415" "USH1C" "05458" ## Individuals ## Do not remove or alter this header ## ## Count = 252 "{{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}}" "00000096" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00001826" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00080823" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00100098" "" "" "" "1" "" "01769" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKRD176;61176" "00144156" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00144157" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "M" "no" "Japan" "" "0" "" "" "Japanese" "" "00155561" "" "" "" "4" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Yemenite;Jewish" "" "00165922" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165923" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165924" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165925" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "M" "" "Canada" "" "0" "" "" "" "" "00165926" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "F" "" "Canada" "" "0" "" "" "" "" "00165927" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165928" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165929" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165930" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165931" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00165932" "" "" "" "1" "" "02416" "{PMID:Roux 2006:16679490}" "Proband" "M" "" "Guinea" "" "0" "" "" "" "" "00165933" "" "" "" "1" "" "02416" "" "Relative" "F" "" "Guinea" "" "0" "" "" "" "" "00165934" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Lebanon" "" "0" "" "" "" "" "00165935" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "" "" "Lebanon" "" "0" "" "" "" "" "00165936" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "" "" "Lebanon" "" "0" "" "" "" "" "00165937" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "" "" "Lebanon" "" "0" "" "" "" "" "00165938" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "" "" "Lebanon" "" "0" "" "" "" "" "00165939" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "" "" "Lebanon" "" "0" "" "" "" "" "00165940" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "" "" "Lebanon" "" "0" "" "" "" "" "00165941" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "" "" "Lebanon" "" "0" "" "" "" "" "00165942" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00165943" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00165944" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00165945" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165946" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165947" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165948" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165949" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165950" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "" "" "Canada" "" "0" "" "" "" "" "00165951" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165952" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "" "" "Canada" "" "0" "" "" "" "" "00165953" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165954" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "" "" "Canada" "" "0" "" "" "" "" "00165955" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165956" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Germany" "" "0" "" "" "" "" "00165957" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Germany" "" "0" "" "" "" "" "00165958" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Germany" "" "0" "" "" "" "" "00165959" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "" "" "Germany" "" "0" "" "" "" "" "00165960" "" "" "" "1" "" "02416" "{PMID:Zwaenepoel 2001:11139240}" "Proband" "" "" "" "" "0" "" "" "" "" "00165961" "" "" "" "1" "" "02416" "{PMID:Zwaenepoel 2001:11139240}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00165962" "" "" "" "1" "" "02416" "{PMID:Zwaenepoel 2001:11139240}" "Proband" "" "" "" "" "0" "" "" "" "" "00165963" "" "" "" "1" "" "02416" "{PMID:Zwaenepoel 2001:11139240}" "Proband" "" "" "" "" "0" "" "" "" "" "00165964" "" "" "" "1" "" "02416" "{PMID:Zwaenepoel 2001:11139240}" "Proband" "" "" "" "" "0" "" "" "" "" "00165965" "" "" "" "1" "" "02416" "{PMID:Zwaenepoel 2001:11139240}" "Proband" "" "" "" "" "0" "" "" "" "" "00165966" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Proband" "F" "" "Lebanon" "" "0" "" "" "" "" "00165967" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "F" "" "Lebanon" "" "0" "" "" "" "" "00165968" "" "" "" "1" "" "02416" "{PMID:Verpy 2000:10973247}" "Relative" "M" "" "Lebanon" "" "0" "" "" "" "" "00165969" "" "" "" "2" "" "02416" "{PMID:Bitner-Glindzicz 2000:10973248}" "5-generation family, 2 affected (F, M), proband" "M" "" "" "" "0" "" "" "" "Fam1PatV1" "00165970" "" "" "" "1" "" "02416" "{PMID:Bitner-Glindzicz 2000:10973248}" "4-generation family, 4 affected (2f, 2M), proband" "F" "" "" "" "0" "" "" "" "Fam2PatIV2" "00165971" "" "" "00165975" "1" "" "02416" "{PMID:Bitner-Glindzicz 2000:10973248}" "relative" "M" "" "" "" "0" "" "" "" "Fam2PatIV4" "00165972" "" "" "" "3" "" "02416" "{PMID:Bitner-Glindzicz 2000:10973248}" "family, 3-affected sibs (2 brothers and a sister), proband" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam3-proband" "00165973" "" "" "00165972" "1" "" "02416" "{PMID:Bitner-Glindzicz 2000:10973248}" "relative" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam3Pat2" "00165974" "" "" "00165975" "1" "" "02416" "{PMID:Bitner-Glindzicz 2000:10973248}" "Acadian cell lines" "M" "yes" "United States" "" "0" "" "" "" "Fam" "00165975" "" "" "" "2" "" "02416" "{PMID:Bitner-Glindzicz 2000:10973248}" "Acadian cell lines" "F" "yes" "United States" "" "0" "" "" "" "Fam" "00165976" "" "" "" "1" "" "02416" "{PMID:Blaydon 2003:12702164}" "Proband" "" "" "Greece" "" "0" "" "" "" "" "00165977" "" "" "" "1" "" "02416" "{PMID:Blaydon 2003:12702164}" "Proband" "" "" "" "" "0" "" "" "" "" "00165978" "" "" "" "1" "" "02416" "{PMID:Blaydon 2003:12702164}" "Proband" "" "" "" "" "0" "" "" "" "" "00165979" "" "" "" "1" "" "02416" "{PMID:Ouyang 2002:12136232}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00165980" "" "" "" "1" "" "02416" "{PMID:Ouyang 2002:12136232}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00165981" "" "" "" "1" "" "02416" "{PMID:Ouyang 2002:12136232}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00165982" "" "" "" "1" "" "02416" "{PMID:Ouyang 2002:12136232}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00165983" "" "" "" "1" "" "02416" "{PMID:Ouyang 2005:15660226}" "Proband" "" "" "" "" "0" "" "" "" "" "00165984" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00166478" "" "" "" "1" "" "02416" "{PMID:Roux 2011:21436283}" "Proband" "M" "" "France" "" "0" "" "" "" "U819" "00166479" "" "" "" "1" "" "02416" "{PMID:Kimberling 2010:20613545}" "Proband - No ophtalmologic examination" "" "" "United States" "" "0" "" "" "" "" "00166480" "" "" "" "1" "" "02416" "{PMID:Kimberling 2010:20613545}" "Proband - No ophtalmologic examination" "" "" "United States" "" "0" "" "" "" "" "00166490" "" "" "" "1" "" "02416" "{PMID:Aparisi 2010:21203349}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00166491" "" "" "" "1" "" "02416" "{PMID:Aparisi 2010:21203349}" "Proband" "M" "" "Italy" "" "0" "" "" "" "" "00166492" "" "" "" "1" "" "02416" "{PMID:Aparisi 2010:21203349}" "Proband - Minigene studies in Aparisi et al., 2013" "F" "" "Turkey" "" "0" "" "" "" "" "00166493" "" "" "" "1" "" "02416" "{PMID:Aparisi 2010:21203349}" "Relative" "F" "" "Turkey" "" "0" "" "" "" "" "00166494" "" "" "" "1" "" "02416" "{PMID:Aparisi 2010:21203349}" "Relative" "M" "" "Turkey" "" "0" "" "" "" "" "00166516" "" "" "" "1" "" "02419" "{PMID:Saihan 2011:21487335}" "Proband" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166517" "" "" "" "1" "" "02419" "{PMID:Saihan 2011:21487335}" "Relative" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166521" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166522" "" "" "" "1" "" "02416" "{PMID:Bonnet 2011:21569298}" "Proband" "" "" "" "" "0" "" "" "" "" "00166595" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166608" "" "" "" "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" "" "" "" "" "00166623" "" "" "" "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" "" "" "" "" "00166640" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166644" "" "" "" "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" "" "" "" "" "00166655" "" "" "" "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" "" "" "" "" "00166662" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166669" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166679" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166683" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166688" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166691" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166706" "" "" "" "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" "" "" "" "" "00166711" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166713" "" "" "" "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" "" "" "" "" "00166717" "" "" "" "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" "" "" "" "" "00166721" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166724" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166732" "" "" "" "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" "" "" "" "" "00166741" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166746" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166751" "" "" "" "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" "" "" "" "" "00166890" "" "" "" "1" "" "02416" "{PMID:Rizel 2012:22219650}" "Proband" "F" "" "Israel" "" "0" "" "" "" "" "00166891" "" "" "" "1" "" "02416" "{PMID:Rizel 2012:22219650}" "Relative" "M" "" "Israel" "" "0" "" "" "" "" "00166892" "" "" "" "1" "" "02416" "{PMID:Rizel 2012:22219650}" "Relative" "M" "" "Israel" "" "0" "" "" "" "" "00167062" "" "" "" "1" "" "02416" "{PMID:Khateb 2012:23251578}" "Proband" "M" "" "Israel" "" "0" "" "" "" "" "00167063" "" "" "" "1" "" "02416" "{PMID:Khateb 2012:23251578}" "Relative" "M" "" "Israel" "" "0" "" "" "" "" "00167064" "" "" "" "1" "" "02416" "{PMID:Khateb 2012:23251578}" "Relative" "M" "" "Israel" "" "0" "" "" "" "" "00167065" "" "" "" "1" "" "02416" "{PMID:Khateb 2012:23251578}" "Relative" "F" "" "Israel" "" "0" "" "" "" "" "00167066" "" "" "" "1" "" "02416" "{PMID:Khateb 2012:23251578}" "Proband" "F" "" "Israel" "" "0" "" "" "" "" "00167067" "" "" "" "1" "" "02416" "{PMID:Khateb 2012:23251578}" "Relative" "F" "" "Israel" "" "0" "" "" "" "" "00167068" "" "" "" "1" "" "02416" "{PMID:Khateb 2012:23251578}" "Proband" "" "" "Israel" "" "0" "" "" "" "" "00167069" "" "" "" "1" "" "02416" "{PMID:Khateb 2012:23251578}" "Proband" "" "" "Israel" "" "0" "" "" "" "" "00167070" "" "" "" "1" "" "02416" "{PMID:Khateb 2012:23251578}" "Proband" "" "" "Israel" "" "0" "" "" "" "" "00167071" "" "" "" "1" "" "02416" "{PMID:Khateb 2012:23251578}" "Relative" "" "" "Israel" "" "0" "" "" "" "" "00167072" "" "" "" "1" "" "02416" "{PMID:Khateb 2012:23251578}" "Relative" "" "" "Israel" "" "0" "" "" "" "" "00167073" "" "" "" "1" "" "02416" "{PMID:Khateb 2012:23251578}" "Proband" "" "" "Israel" "" "0" "" "" "" "" "00167123" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "" "" "0" "" "" "" "" "00167130" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167131" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "" "00167138" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167142" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "F" "" "" "" "0" "" "" "" "" "00167240" "" "" "" "1" "" "00143" "{PMID:Krawitz 2014:25333064}" "Proband" "F" "" "Germany" "" "0" "" "" "" "" "00167253" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "F" "" "India" "" "0" "" "" "" "" "00167254" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00167255" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "F" "" "India" "" "0" "" "" "" "" "00167256" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00167257" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "F" "" "India" "" "0" "" "" "" "" "00167258" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00167259" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00167260" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00167261" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "F" "" "India" "" "0" "" "" "" "" "00167262" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00167263" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "F" "" "India" "" "0" "" "" "" "" "00167264" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00167265" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00167266" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00167267" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00167268" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "" "" "India" "" "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" "" "" "" "" "00167658" "" "" "" "1" "" "02416" "{PMID:Aparisi 2014:25404053}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167672" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167674" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167686" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167687" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167688" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167689" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167690" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Relative" "" "" "United States" "" "0" "" "" "" "" "00167691" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167692" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167693" "" "" "" "1" "" "02416" "{PMID:Bujakowska 2014:25468891}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167725" "" "" "" "1" "" "02416" "{PMID:Qu 2014:25252889}" "Proband" "F" "" "China" "" "0" "" "" "" "" "00167726" "" "" "" "1" "" "02416" "{PMID:Qu 2014:25252889}" "Relative" "M" "" "China" "" "0" "" "" "" "" "00167775" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167776" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167777" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "" "00167778" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Italy" "" "0" "" "" "" "" "00167779" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Slovenia" "" "0" "" "" "" "" "00167780" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167781" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00167782" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Germany" "" "0" "" "" "" "" "00167783" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "Germany" "" "0" "" "" "" "" "00167784" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167785" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167851" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "" "00167852" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "Proband" "M" "" "Algeria" "" "0" "" "" "" "" "00168033" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "M" "" "France" "" "0" "" "" "" "S1536" "00289371" "" "" "" "1" "" "00006" "{PMID:Lentz 2005:15578223}" "lymphoblast cell lines from the Coriell cell repository for three Acadian Usher patients and unaffected family members (Family 1: GM09070, GM09071 and GM09072; Family 2: GM09456, GM09458 and GM09459; Family 3: GM10354 and GM10359)" "" "" "United States" "" "0" "" "" "" "Fam" "00290317" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308626" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" "" "00309452" "" "" "" "13" "" "00004" "{PMID:Sharon 2019:31456290}" "13 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309453" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309454" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309608" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1222" "00314773" "" "" "" "3" "" "00006" "{DOI:Kannan-Sundhari 2020:32991204}" "2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Iran" "" "0" "" "" "" "KF-4" "00327994" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G001029" "00328110" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005228" "00328340" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000376" "00331620" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19248" "00331621" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "yes" "China" "" "0" "" "" "" "19292" "00331709" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "" "" "" "China" "" "0" "" "" "" "19573" "00331710" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "" "" "" "China" "" "0" "" "" "" "19567" "00333358" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat8" "00334020" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "539" "00334021" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "540" "00335852" "" "" "" "1" "" "00000" "{PMID:Dad 2016:27957503}" "" "F" "no" "Denmark" "" "0" "" "" "" "USH1-13" "00335854" "" "" "" "1" "" "00000" "{PMID:Cremers 2007:16963483}" "" "M" "no" "Denmark" "" "0" "" "" "" "USH1-17" "00335856" "" "" "" "1" "" "00000" "{PMID:Janecke 1999:10094549}" "" "M" "no" "Denmark" "" "0" "" "" "" "USH1-19" "00358828" "" "" "" "2" "" "00000" "{PMID:Ben-Rebeh 2016:27440999}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "" "yes" "Tunisia" "" "0" "" "" "" "USHTF3" "00359268" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "12013349" "00361789" "" "" "" "3" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat18" "00363225" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Syria" "" "0" "" "" "" "Pat123" "00363226" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "Pat96" "00363227" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "Pat97" "00363228" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Egypt" "" "0" "" "" "" "Pat9140" "00373942" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-518-1066" "00374945" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W11-1" "00375412" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#003" "00375416" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#008" "00375429" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#023" "00379567" "" "" "" "1" "" "00000" "{PMID:O\'Sullivan-2012:22581970}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00380836" "" "" "" "1" "" "00000" "{PMID:Ivanova 2018:30358468}" "" "F" "" "Russian Federation" "" "0" "" "" "Slavonian" "Pat16" "00381733" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00382356" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "185" "00382611" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "474" "00382612" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "475" "00386170" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-125, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-282" "00386232" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-427" "00386909" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI737_001456" "00387352" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00389177" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 148, Usher syndrome type 2, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "461" "00389285" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 204, Usher syndrome type 2, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "569" "00389476" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 294, Usher syndrome type 2, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "760" "00390415" "" "" "" "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" "" "" "" "G001029" "00390416" "" "" "" "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" "" "" "" "G005228" "00390417" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000376" "00393965" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Jewish-Yemenite" "" "00394714" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "yes" "" "" "0" "" "" "" "" "00395881" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F231" "00395959" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 16975, genetic ID: 26022" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P5" "00395960" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 16975, genetic ID: 30346" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P6" "00396208" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "F" "" "" "" "0" "" "" "Polish" "" "00396215" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "F" "" "" "" "0" "" "" "Polish" "" "00396218" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "M" "" "" "" "0" "" "" "Polish" "" "00396223" "" "" "" "1" "" "00000" "{PMID:SkorczykWerner 2020:33308271}" "" "F" "" "" "" "0" "" "" "Polish" "" "00396242" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396295" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396296" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00411549" "" "" "" "6" "" "02416" "Vaché et al., submitted" "3-generation family, mother of SU333, sister of SU561" "F" "no" "France" "" "0" "" "" "Sicilia" "SU332" "00411550" "" "" "00411549" "1" "" "02416" "Vaché et al., submitted" "brother of SU332" "M" "no" "France" "" "0" "" "" "Sicilia" "SU561" "00411551" "" "" "00411549" "1" "" "02416" "Vaché submitted" "daughter of SU332, mother of SU7517" "F" "no" "France" "" "0" "" "" "Sicilia" "SU334" "00420536" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F231" "00426167" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "30BS14500" "00436543" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "M" "no" "Mexico" "" "" "" "NONE" "Hispanic" "2480223" "00441453" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4707" "00441454" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4335B" "00441653" "" "" "" "3" "" "00006" "{PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "USH-1" "00447408" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "USHI-83" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 251 "{{individualid}}" "{{diseaseid}}" "00001826" "00112" "00080823" "02416" "00100098" "04214" "00144156" "04214" "00144157" "04214" "00155561" "04214" "00165922" "02115" "00165923" "02115" "00165924" "02115" "00165925" "02115" "00165926" "02115" "00165927" "02115" "00165928" "02115" "00165929" "02115" "00165930" "02115" "00165931" "02115" "00165932" "02115" "00165933" "02115" "00165934" "02115" "00165935" "02115" "00165936" "02115" "00165937" "02115" "00165938" "02115" "00165939" "02115" "00165940" "02115" "00165941" "02115" "00165942" "02115" "00165943" "02115" "00165944" "02115" "00165945" "02115" "00165946" "02115" "00165947" "02115" "00165948" "02115" "00165949" "02115" "00165950" "02115" "00165951" "02115" "00165952" "02115" "00165953" "02115" "00165954" "02115" "00165955" "02115" "00165956" "02115" "00165957" "02115" "00165958" "02115" "00165959" "02115" "00165960" "02115" "00165961" "02115" "00165962" "02115" "00165963" "02115" "00165964" "02115" "00165965" "02115" "00165966" "02115" "00165967" "02115" "00165968" "02115" "00165969" "05415" "00165970" "05415" "00165971" "05415" "00165972" "02115" "00165973" "02115" "00165974" "02115" "00165975" "02115" "00165976" "02115" "00165977" "02115" "00165978" "02115" "00165979" "05400" "00165980" "05400" "00165981" "05400" "00165982" "05400" "00165983" "02115" "00165984" "02115" "00166478" "02115" "00166479" "05400" "00166480" "05400" "00166490" "02115" "00166491" "02115" "00166492" "02115" "00166493" "02115" "00166494" "02115" "00166516" "04214" "00166517" "04214" "00166521" "02115" "00166522" "02115" "00166595" "05414" "00166608" "02115" "00166613" "02115" "00166623" "05414" "00166635" "05414" "00166640" "02115" "00166644" "05414" "00166653" "05414" "00166655" "05415" "00166658" "05415" "00166662" "02115" "00166669" "05414" "00166679" "05414" "00166683" "05414" "00166688" "05414" "00166691" "05414" "00166706" "02115" "00166710" "02115" "00166711" "05414" "00166713" "05414" "00166714" "05414" "00166717" "02115" "00166720" "05415" "00166721" "02115" "00166724" "05414" "00166732" "02115" "00166736" "05415" "00166741" "02115" "00166746" "05414" "00166751" "02115" "00166753" "02115" "00166755" "02115" "00166890" "02115" "00166891" "02115" "00166892" "02115" "00167062" "04211" "00167063" "04211" "00167064" "04211" "00167065" "04211" "00167066" "04211" "00167067" "04211" "00167068" "04211" "00167069" "04211" "00167070" "04211" "00167071" "04211" "00167072" "04211" "00167073" "04211" "00167123" "02115" "00167130" "02115" "00167131" "05414" "00167138" "05414" "00167142" "05458" "00167240" "02115" "00167253" "05400" "00167254" "05400" "00167255" "05400" "00167256" "05400" "00167257" "05400" "00167258" "05400" "00167259" "05400" "00167260" "05400" "00167261" "05400" "00167262" "05400" "00167263" "05400" "00167264" "05400" "00167265" "05400" "00167266" "05400" "00167267" "05400" "00167268" "05400" "00167300" "02115" "00167441" "05414" "00167442" "02115" "00167658" "05414" "00167672" "02115" "00167674" "02115" "00167686" "02115" "00167687" "02115" "00167688" "02115" "00167689" "02115" "00167690" "02115" "00167691" "02115" "00167692" "02115" "00167693" "02115" "00167725" "02115" "00167726" "02115" "00167775" "02115" "00167776" "02115" "00167777" "02115" "00167778" "02115" "00167779" "02115" "00167780" "02115" "00167781" "02115" "00167782" "02115" "00167783" "02115" "00167784" "02115" "00167785" "02115" "00167851" "02115" "00167852" "02115" "00168033" "05400" "00289371" "05415" "00290317" "00198" "00308626" "04214" "00309452" "04214" "00309453" "04214" "00309454" "04214" "00309608" "04214" "00314773" "05086" "00327994" "04214" "00328110" "04214" "00328340" "04214" "00331620" "05086" "00331621" "05086" "00331709" "05086" "00331710" "05086" "00333358" "04214" "00334020" "04214" "00334021" "04214" "00335852" "04214" "00335854" "04214" "00335856" "04214" "00358828" "04214" "00359268" "04214" "00361789" "05415" "00363225" "05415" "00363226" "05415" "00363227" "05415" "00363228" "05415" "00373942" "04214" "00374945" "04214" "00375412" "04214" "00375416" "04214" "00375429" "04214" "00379567" "04214" "00380836" "05415" "00381733" "04214" "00382356" "04214" "00382611" "04214" "00382612" "04214" "00386170" "04214" "00386232" "04214" "00386909" "04214" "00387352" "02116" "00389177" "04214" "00389285" "04214" "00389476" "04214" "00390415" "04214" "00390416" "04214" "00390417" "04214" "00393965" "04214" "00394714" "04214" "00395881" "04214" "00395959" "04214" "00395960" "04214" "00396208" "04214" "00396215" "04214" "00396218" "04214" "00396223" "04214" "00396242" "04214" "00396295" "04214" "00396296" "04214" "00411549" "06877" "00411550" "06877" "00411551" "06877" "00420536" "04214" "00426167" "00139" "00436543" "00669" "00441453" "05086" "00441454" "05086" "00441653" "05086" "00447408" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00139, 00198, 00669, 02115, 02116, 02117, 02416, 04211, 04214, 05086, 05400, 05414, 05415, 05458, 06877 ## Count = 243 "{{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}}" "0000060392" "02416" "00080823" "01758" "Familial, autosomal recessive" "" "Deafness, autosomal recessive 18A (OMIM:602092)" "" "" "" "" "" "" "" "" "" "" "" "0000116934" "04214" "00144156" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000116935" "04214" "00144157" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000128061" "04214" "00155561" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000130786" "02115" "00165922" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130787" "02115" "00165923" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130788" "02115" "00165924" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130789" "02115" "00165925" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130790" "02115" "00165926" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130791" "02115" "00165927" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130792" "02115" "00165928" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130793" "02115" "00165929" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130794" "02115" "00165930" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130795" "02115" "00165931" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130796" "02115" "00165932" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130797" "02115" "00165933" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130798" "02115" "00165934" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130799" "02115" "00165935" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130800" "02115" "00165936" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130801" "02115" "00165937" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130802" "02115" "00165938" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130803" "02115" "00165939" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130804" "02115" "00165940" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130805" "02115" "00165941" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130806" "02115" "00165942" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130807" "02115" "00165943" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130808" "02115" "00165944" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130809" "02115" "00165945" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130810" "02115" "00165946" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130811" "02115" "00165947" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130812" "02115" "00165948" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130813" "02115" "00165949" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130814" "02115" "00165950" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130815" "02115" "00165951" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130816" "02115" "00165952" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130817" "02115" "00165953" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130818" "02115" "00165954" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130819" "02115" "00165955" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130820" "02115" "00165956" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130821" "02115" "00165957" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130822" "02115" "00165958" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130823" "02115" "00165959" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130824" "02115" "00165960" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130825" "02115" "00165961" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130826" "02115" "00165962" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130827" "02115" "00165963" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130828" "02115" "00165964" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130829" "02115" "00165965" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130830" "02115" "00165966" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130831" "02115" "00165967" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130832" "02115" "00165968" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130833" "05415" "00165969" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (USH), contiguous gene syndrome" "" "0000130834" "05415" "00165970" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (USH), contiguous gene syndrome" "" "0000130835" "05415" "00165971" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (USH), contiguous gene syndrome" "" "0000130836" "02115" "00165972" "02416" "Familial, autosomal recessive" "24y" "profound congenital sensorineural deafness; 24y-retinitis pigmentosa on fundoscopy, confirmed by electroretinogram, impairment of balance, suffers from epilepsy" "" "" "" "" "" "" "" "" "USH1C" "Usher syndrome" "" "0000130837" "02115" "00165973" "02416" "Familial, autosomal recessive" "" "profound congenital sensorineural deafness; retinitis pigmentosa, reduced responses on\r\nERG consistent with retinal dystrophy, problems with balance" "" "" "" "" "" "" "" "" "USH1C" "Usher syndrome" "" "0000130838" "02115" "00165974" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130839" "02115" "00165975" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130840" "02115" "00165976" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130841" "02115" "00165977" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130842" "02115" "00165978" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130843" "05400" "00165979" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000130844" "05400" "00165980" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000130845" "05400" "00165981" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000130846" "05400" "00165982" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000130847" "02115" "00165983" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130848" "02115" "00165984" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131342" "02115" "00166478" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131343" "05400" "00166479" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000131344" "05400" "00166480" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000131354" "02115" "00166490" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131355" "02115" "00166491" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131356" "02115" "00166492" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131357" "02115" "00166493" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131358" "02115" "00166494" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131380" "04214" "00166516" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa, hearing loss" "" "0000131381" "04214" "00166517" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa, hearing loss" "" "0000131385" "02115" "00166521" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131386" "02115" "00166522" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131459" "05414" "00166595" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131472" "02115" "00166608" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131477" "02115" "00166613" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131487" "05414" "00166623" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131499" "05414" "00166635" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131504" "02115" "00166640" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131508" "05414" "00166644" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131517" "05414" "00166653" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131519" "05415" "00166655" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131522" "05415" "00166658" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131526" "02115" "00166662" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131533" "05414" "00166669" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131543" "05414" "00166679" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131547" "05414" "00166683" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131552" "05414" "00166688" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131555" "05414" "00166691" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131570" "02115" "00166706" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131574" "02115" "00166710" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131575" "05414" "00166711" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131577" "05414" "00166713" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131578" "05414" "00166714" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131581" "02115" "00166717" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131584" "05415" "00166720" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131585" "02115" "00166721" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131588" "05414" "00166724" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131596" "02115" "00166732" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131600" "05415" "00166736" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical Usher" "" "0000131605" "02115" "00166741" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131610" "05414" "00166746" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131615" "02115" "00166751" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131617" "02115" "00166753" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131619" "02115" "00166755" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131754" "02115" "00166890" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131755" "02115" "00166891" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131756" "02115" "00166892" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131926" "04211" "00167062" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131927" "04211" "00167063" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131928" "04211" "00167064" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131929" "04211" "00167065" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131930" "04211" "00167066" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131931" "04211" "00167067" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131932" "04211" "00167068" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131933" "04211" "00167069" "02416" "Familial, autosomal recessive" "" "autoomal recessive retinitis pigmentosa with late-onset hearing loss" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131934" "04211" "00167070" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131935" "04211" "00167071" "02416" "Familial, autosomal recessive" "" "autoomal recessive retinitis pigmentosa with late-onset hearing loss" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131936" "04211" "00167072" "02416" "Familial, autosomal recessive" "" "autoomal recessive retinitis pigmentosa with late-onset hearing loss" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131937" "04211" "00167073" "02416" "Familial, autosomal recessive" "" "autoomal recessive retinitis pigmentosa with late-onset hearing loss" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131987" "02115" "00167123" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131994" "02115" "00167130" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131995" "05414" "00167131" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132002" "05414" "00167138" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132006" "05458" "00167142" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132104" "02115" "00167240" "00143" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132117" "05400" "00167253" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132118" "05400" "00167254" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132119" "05400" "00167255" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132120" "05400" "00167256" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132121" "05400" "00167257" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132122" "05400" "00167258" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132123" "05400" "00167259" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132124" "05400" "00167260" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132125" "05400" "00167261" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132126" "05400" "00167262" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132127" "05400" "00167263" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132128" "05400" "00167264" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132129" "05400" "00167265" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132130" "05400" "00167266" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132131" "05400" "00167267" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000132132" "05400" "00167268" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "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" "" "0000132522" "05414" "00167658" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132536" "02115" "00167672" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132538" "02115" "00167674" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132550" "02115" "00167686" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132551" "02115" "00167687" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132552" "02115" "00167688" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132553" "02115" "00167689" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132554" "02115" "00167690" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132555" "02115" "00167691" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132556" "02115" "00167692" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132557" "02115" "00167693" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132589" "02115" "00167725" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132590" "02115" "00167726" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132639" "02115" "00167775" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132640" "02115" "00167776" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132641" "02115" "00167777" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132642" "02115" "00167778" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132643" "02115" "00167779" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132644" "02115" "00167780" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132645" "02115" "00167781" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132646" "02115" "00167782" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132647" "02115" "00167783" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132648" "02115" "00167784" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132649" "02115" "00167785" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132715" "02115" "00167851" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132716" "02115" "00167852" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132897" "05400" "00168033" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000222984" "05415" "00289371" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH1C" "Acadian Usher syndrome" "" "0000234054" "04214" "00308626" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234772" "04214" "00309452" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234773" "04214" "00309453" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234774" "04214" "00309454" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234928" "04214" "00309608" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000238569" "05086" "00314773" "00006" "Familial, autosomal recessive" "" "see paper; hearing loss , ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000246221" "04214" "00327994" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246337" "04214" "00328110" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000246567" "04214" "00328340" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000249812" "05086" "00331620" "00000" "Familial, autosomal recessive" "13y" "profound hearing loss (acouophone or cochlear implant)" "1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249813" "05086" "00331621" "00000" "Familial, autosomal recessive" "32y" "profound hearing loss" "2y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000249901" "05086" "00331709" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000249902" "05086" "00331710" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000251545" "04214" "00333358" "00000" "Familial, X-linked recessive" "40y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252205" "04214" "00334020" "00000" "Familial, autosomal recessive" "62y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252206" "04214" "00334021" "00000" "Familial, autosomal recessive" "32y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000253753" "04214" "00335852" "00000" "Familial, autosomal recessive" "" "8y-onset night blindness; macula edema; no cataract; vestibular dysfunction" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253755" "04214" "00335854" "00000" "Familial, autosomal recessive" "" "cataract" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000253757" "04214" "00335856" "00000" "Familial, autosomal recessive" "" "36y-onset night blindness; cataract" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000254043" "04214" "00358828" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome type 1" "" "0000254565" "04214" "00359268" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000257184" "05415" "00361789" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000258590" "05415" "00363225" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258591" "05415" "00363226" "00000" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258592" "05415" "00363227" "00000" "Familial, autosomal recessive" "2y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258593" "05415" "00363228" "00000" "Familial, autosomal recessive" "10y" "no retinal dystrophy at time the genetic diagnosis" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000269151" "04214" "00373942" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000270155" "04214" "00374945" "00000" "Familial, autosomal recessive" "24y" "best corrected visual acuity 0.3/0.3" "14y" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000270626" "04214" "00375412" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270630" "04214" "00375416" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270643" "04214" "00375429" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000274689" "05415" "00380836" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000275575" "04214" "00381733" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276205" "04214" "00382356" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276460" "04214" "00382611" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276461" "04214" "00382612" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000279973" "04214" "00386170" "00000" "Familial, autosomal dominant" "33y" "" "" "33y" "" "" "" "" "" "" "cone-rod dystrophy" "Best macular dystrophy" "" "0000280035" "04214" "00386232" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "benign concentric annular macular dystrophy" "" "0000280709" "04214" "00386909" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000282718" "04214" "00389177" "00000" "Familial, autosomal recessive" "81y" "age at genetic diagnosis mentioned" "" "74y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000282826" "04214" "00389285" "00000" "Familial, autosomal recessive" "42y" "age at genetic diagnosis mentioned" "" "38y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000283017" "04214" "00389476" "00000" "Familial, autosomal recessive" "48y" "age at genetic diagnosis mentioned" "" "45y" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000283953" "04214" "00390415" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283954" "04214" "00390416" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000283955" "04214" "00390417" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000287171" "04214" "00393965" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287917" "04214" "00394714" "00000" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000289043" "04214" "00395881" "00000" "Unknown" "58y2m" "" "40y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289121" "04214" "00395959" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289122" "04214" "00395960" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289370" "04214" "00396208" "00000" "Familial, autosomal recessive" "38y" "1 year: nystagmus" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289377" "04214" "00396215" "00000" "Familial, autosomal recessive" "6y" "2 month: nystagmus, sluggish, then absent pupillary responses, no fixation" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289380" "04214" "00396218" "00000" "Familial, autosomal recessive" "8y" "1.5 months: nystagmus, absent pupillary responses, no fixation, no pacing" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289385" "04214" "00396223" "00000" "Familial, autosomal recessive" "15y" "1 month: nystagmus, sluggish pupillary responses," "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000289404" "04214" "00396242" "00000" "Familial, autosomal recessive" "41y7m" "atypical vestibular findings, Profound hearing loss, Low sinusoidal harmonic accelerationAbsent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289457" "04214" "00396295" "00000" "Familial, autosomal recessive" "22y4m" "typical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000289458" "04214" "00396296" "00000" "Familial, autosomal recessive" "49y" "typical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000311784" "04214" "00420536" "00000" "Familial, autosomal recessive" "58y2m" "" "40y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000317317" "00139" "00426167" "00006" "Familial, autosomal recessive" "1y" "" "" "" "" "" "" "" "" "" "USH1C" "intellectual disability" "" "0000326718" "00669" "00436543" "04552" "Familial, autosomal recessive" "19y" "Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504" "19y" "45y" "19y" "" "" "" "" "" "# 605472" "Usher syndrome" "" "0000330893" "05086" "00441453" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330894" "05086" "00441454" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331062" "05086" "00441653" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000336607" "00198" "00447408" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 252 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000096" "00000096" "1" "00004" "" "2012-05-11 13:19:25" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000001629" "00001826" "1" "00102" "00102" "2013-08-08 23:27:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000080935" "00080823" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100502" "00100098" "1" "01769" "01769" "2017-01-30 18:48:35" "" "" "SEQ" "DNA" "WBC" "" "0000145015" "00144156" 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"0000168002" "00167123" "1" "02416" "02416" "2013-02-07 14:57:16" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168009" "00167130" "1" "02416" "02416" "2013-02-08 14:30:48" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168010" "00167131" "1" "02416" "02416" "2013-02-08 15:52:35" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168017" "00167138" "1" "02416" "02416" "2013-02-11 11:00:23" "00110" "2015-02-10 17:54:18" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168021" "00167142" "1" "02416" "02416" "2013-02-11 12:26:27" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168119" "00167240" "1" "00143" "00143" "2014-01-30 15:23:04" "00110" "2015-07-01 17:33:22" "SEQ-NG-S" "DNA" "" "" "0000168132" "00167253" "1" "02416" "02416" "2014-02-06 16:15:36" "00110" "2014-02-06 16:15:48" "SEQ" "DNA" "" "" "0000168133" "00167254" "1" "02416" "02416" "2014-02-06 16:18:07" "" "" "SEQ" "DNA" "" "" "0000168134" "00167255" "1" "02416" "02416" "2014-02-06 16:27:54" "00110" "2014-02-06 17:14:09" "SEQ" "DNA" "" "" "0000168135" "00167256" "1" "02416" "02416" "2014-02-06 16:30:13" "00110" "2014-02-06 17:14:09" "SEQ" "DNA" "" "" "0000168136" "00167257" "1" "02416" "02416" "2014-02-06 17:06:08" "" "" "SEQ" "DNA" "" "" "0000168137" "00167258" "1" "02416" "02416" "2014-02-06 17:07:06" "" "" "SEQ" "DNA" "" "" "0000168138" "00167259" "1" "02416" "02416" "2014-02-06 17:10:00" "" "" "SEQ" "DNA" "" "" "0000168139" "00167260" "1" "02416" "02416" "2014-02-06 17:11:04" "" "" "SEQ" "DNA" "" "" "0000168140" "00167261" "1" "02416" "02416" "2014-02-06 17:17:15" "" "" "SEQ" "DNA" "" "" "0000168141" "00167262" "1" "02416" "02416" "2014-02-06 17:19:18" "" "" "SEQ" "DNA" "" "" "0000168142" "00167263" "1" "02416" "02416" "2014-02-06 17:20:54" "00110" "2015-07-01 17:33:38" "SEQ" "DNA" "" "" "0000168143" "00167264" "1" "02416" "02416" "2014-02-06 17:21:56" "00110" "2015-07-01 17:33:54" "SEQ" "DNA" "" "" "0000168144" "00167265" "1" "02416" "02416" "2014-02-06 17:27:53" "00110" "2014-02-06 17:29:11" "SEQ" "DNA" "" "" "0000168145" "00167266" "1" "02416" "02416" "2014-02-06 17:30:28" "" "" "SEQ" "DNA" "" "" "0000168146" "00167267" "1" "02416" "02416" "2014-02-06 17:35:57" "00110" "2014-02-06 17:36:26" "SEQ" "DNA" "" "" "0000168147" "00167268" "1" "02416" "02416" "2014-02-06 17:41:05" "00110" "2015-02-10 17:49:41" "SEQ" "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" "" "" "0000168537" "00167658" "1" "02416" "02416" "2014-12-11 15:12:40" "" "" "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" "" "" "0000168553" "00167674" "1" "02416" "02416" "2015-02-09 16:58:34" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168565" "00167686" "1" "02416" "02416" "2015-02-10 17:41:08" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168566" "00167687" "1" "02416" "02416" "2015-02-10 17:42:00" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168567" "00167688" "1" "02416" "02416" "2015-02-10 17:43:35" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168568" "00167689" "1" "02416" "02416" "2015-02-10 17:44:45" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168569" "00167690" "1" "02416" "02416" "2015-02-10 17:45:32" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168570" "00167691" "1" "02416" "02416" "2015-02-10 17:53:38" "00110" "2015-02-10 17:54:18" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168571" "00167692" "1" "02416" "02416" "2015-02-10 17:51:11" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168572" "00167693" "1" "02416" "02416" "2015-02-10 17:52:35" "00110" "2015-02-10 17:54:18" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168604" "00167725" "1" "02416" "02416" "2015-02-20 15:56:17" "" "" "SEQ" "DNA" "" "" "0000168605" "00167726" "1" "02416" "02416" "2015-02-20 15:57:34" "" "" "SEQ" "DNA" "" "" "0000168654" "00167775" "1" "02428" "02428" "2016-05-25 15:04:54" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168655" "00167776" "1" "02428" "02428" "2016-05-25 15:04:54" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168656" "00167777" "1" "02428" "02428" "2016-05-25 15:04:54" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168657" "00167778" "1" "02428" "02428" "2016-05-25 15:04:54" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168658" "00167779" "1" "02428" "02428" "2016-05-25 15:04:54" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168659" "00167780" "1" "02428" "02428" "2016-05-25 15:04:54" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168660" "00167781" "1" "02428" "02428" "2016-05-25 15:04:54" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168661" "00167782" "1" "02428" "02428" "2016-05-25 15:04:54" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168662" "00167783" "1" "02428" "02428" "2016-05-25 15:04:54" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168663" "00167784" "1" "02428" "02428" "2016-05-25 15:04:54" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168664" "00167785" "1" "02428" "02428" "2016-05-25 15:04:54" "00110" "2016-08-01 14:49:17" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168730" "00167851" "1" "02428" "02428" "2016-08-08 17:23:33" "" "" "SEQ" "DNA" "" "" "0000168731" "00167852" "1" "02428" "02428" "2016-08-08 17:24:35" "" "" "SEQ" "DNA" "" "" "0000168912" "00168033" "1" "02416" "02416" "2017-08-16 11:13:38" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000290542" "00289371" "1" "00006" "00006" "2020-03-06 19:03:16" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000291485" "00290317" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309771" "00308626" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000310597" "00309452" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310598" "00309453" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310599" "00309454" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310753" "00309608" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000315947" "00314773" "1" "00006" "00006" "2020-10-18 12:29:15" "" "" "SEQ;SEQ-NG" "DNA" "" "180-gene panel" "0000329209" "00327994" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329325" "00328110" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329555" "00328340" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000332839" "00331620" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG;PCRq" "DNA" "" "" "0000332840" "00331621" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332928" "00331709" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332929" "00331710" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000334583" "00333358" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000335246" "00334020" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335247" "00334021" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000337082" "00335852" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ" "DNA" "" "" "0000337084" "00335854" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000337086" "00335856" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "PE" "DNA" "" "" "0000360058" "00358828" "1" "00000" "00006" "2021-03-14 09:54:57" "" "" "SEQ" "DNA" "" "" "0000360506" "00359268" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000363017" "00361789" "1" "02404" "02404" "2021-04-10 12:53:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000364453" "00363225" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364454" "00363226" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364455" "00363227" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "arrayCGH" "DNA" "" "" "0000364456" "00363228" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000375174" "00373942" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000376139" "00374945" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376609" "00375412" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376613" "00375416" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376626" "00375429" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000380766" "00379567" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000382050" "00380836" "1" "00000" "03840" "2021-08-23 12:17:56" "" "" "SEQ-NG-I" "DNA" "blood" "AmpliSeqTM Inherited Disease Panel covering 325 genes" "0000382949" "00381733" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000383570" "00382356" "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" "0000383825" "00382611" "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" "0000383826" "00382612" "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" "0000387399" "00386170" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387461" "00386232" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388137" "00386909" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388577" "00387352" "1" "02416" "02416" "2021-10-28 14:22:22" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000390420" "00389177" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390528" "00389285" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390719" "00389476" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391656" "00390415" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391657" "00390416" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391658" "00390417" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000395213" "00393965" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395961" "00394714" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000397120" "00395881" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397198" "00395959" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397199" "00395960" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397449" "00396208" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "arraySNP" "DNA" "" "" "0000397456" "00396215" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG" "DNA" "" "" "0000397459" "00396218" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "arraySNP" "DNA" "" "" "0000397464" "00396223" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "arraySNP" "DNA" "" "" "0000397483" "00396242" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397536" "00396295" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397537" "00396296" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000412819" "00411549" "1" "02416" "00110" "2022-06-15 17:12:19" "00110" "2022-06-15 17:17:40" "SEQ;SEQ-NG-I" "DNA" "blood" "david_lovd" "0000412820" "00411550" "1" "02416" "00110" "2022-06-15 17:19:12" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "gene panel" "0000412821" "00411551" "1" "02416" "00110" "2022-06-15 17:24:16" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "gene panel" "0000421845" "00420536" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000427487" "00426167" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000438027" "00436543" "1" "04552" "04552" "2023-09-21 18:45:20" "" "" "SEQ-NG-I" "DNA" "Buccal swab" "" "0000442939" "00441453" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442940" "00441454" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443139" "00441653" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448985" "00447408" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 71 "{{screeningid}}" "{{geneid}}" "0000000096" "AHI1" "0000000096" "ATP7B" "0000000096" "BTD" "0000000096" "COQ2" "0000000096" "ETFB" "0000000096" "GLB1" "0000000096" "HEXB" "0000000096" "NHLRC1" "0000000096" "SERPINA1" "0000000096" "USH1C" "0000080935" "USH1C" "0000100502" "FAM161A" "0000145015" "EYS" "0000145016" "EYS" "0000156426" "USH1C" "0000290542" "USH1C" "0000309771" "USH1C" "0000310597" "USH1C" "0000310598" "USH1C" "0000310599" "USH1C" "0000310753" "USH1C" "0000315947" "USH1C" "0000329209" "USH1C" "0000329325" "USH1C" "0000329555" "USH1C" "0000332839" "USH1C" "0000332840" "USH1C" "0000332928" "USH1C" "0000332929" "USH1C" "0000334583" "RPGR" "0000335246" "USH1C" "0000335247" "USH1C" "0000337082" "USH1C" "0000337084" "USH1C" "0000337086" "USH1C" "0000360058" "USH1C" "0000363017" "USH1C" "0000364453" "USH1C" "0000364454" "USH1C" "0000364455" "USH1C" "0000364456" "USH1C" "0000375174" "USH1C" "0000380766" "USH1C" "0000382050" "USH1C" "0000382949" "USH1C" "0000383570" "USH1C" "0000383825" "USH1C" "0000383826" "USH1C" "0000387399" "GUCY2D" "0000387461" "ADAM9" "0000388137" "USH1C" "0000390420" "USH1C" "0000390528" "USH1C" "0000390719" "USH1C" "0000391656" "USH1C" "0000391657" "USH1C" "0000391658" "USH1C" "0000395213" "USH1C" "0000395961" "USH1C" "0000397120" "USH1C" "0000397198" "USH1C" "0000397199" "USH1C" "0000397449" "CEP290" "0000397456" "GUCY2D" "0000397459" "CEP290" "0000397464" "CEP290" "0000397483" "USH1C" "0000397536" "USH1C" "0000397537" "USH1C" "0000421845" "USH1C" "0000438027" "USH1C" ## 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 = 614 "{{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}}" "0000000271" "0" "50" "11" "17552978" "17552978" "subst" "0" "00002" "USH1C_000161" "g.17552978C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17531431C>A" "" "VUS" "" "0000019545" "0" "55" "11" "17544992" "17544992" "subst" "4.06095E-5" "00102" "USH1C_000162" "g.17544992C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17523445C>T" "" "VUS" "" "0000019546" "0" "55" "11" "17547915" "17547915" "subst" "0" "00102" "USH1C_000163" "g.17547915C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17526368C>A" "" "VUS" "" "0000130021" "3" "70" "11" "17547982" "17547982" "subst" "0" "01758" "USH1C_000164" "g.17547982G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.17526435G>A" "" "likely pathogenic" "ACMG" "0000247015" "0" "10" "11" "17531142" "17531142" "subst" "8.8702E-6" "02330" "USH1C_000124" "g.17531142A>G" "" "" "" "USH1C(NM_153676.4):c.1774T>C (p.S592P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17509595A>G" "" "benign" "" "0000247025" "0" "10" "11" "17526266" "17526266" "del" "0" "02330" "USH1C_000148" "g.17526266del" "" "" "" "USH1C(NM_153676.4):c.2134-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17504719del" "" "benign" "" "0000255027" "0" "30" "11" "17527386" "17527386" "subst" "0.000190965" "01943" "USH1C_000119" "g.17527386A>G" "" "" "" "USH1C(NM_153676.3):c.2124T>C (p.S708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17505839A>G" "" "likely benign" "" "0000311131" "0" "10" "11" "17553093" "17553093" "subst" "0.000114245" "02330" "USH1C_000143" "g.17553093T>C" "" "" "" "USH1C(NM_153676.4):c.105-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17531546T>C" "" "benign" "" "0000311132" "0" "10" "11" "17542554" "17542554" "subst" "0.000694512" "02330" "USH1C_000130" "g.17542554C>A" "" "" "" "USH1C(NM_153676.4):c.1086-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17521007C>A" "" "benign" "" "0000311133" "0" "10" "11" "17539012" "17539012" "subst" "0.000323298" "02330" "USH1C_000128" "g.17539012C>T" "" "" "" "USH1C(NM_005709.3):c.1220G>A (p.G407E), USH1C(NM_005709.4):c.1220G>A (p.G407E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17517465C>T" "" "benign" "" "0000311134" "0" "10" "11" "17527440" "17527440" "subst" "0" "02330" "USH1C_000120" "g.17527440T>C" "" "" "" "USH1C(NM_153676.4):c.2070A>G (p.K690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17505893T>C" "" "benign" "" "0000311136" "0" "10" "11" "17526266" "17526266" "dup" "0" "02330" "USH1C_000118" "g.17526266dup" "" "" "" "USH1C(NM_153676.4):c.2134-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17504719dup" "" "benign" "" "0000311137" "0" "50" "11" "17552952" "17552952" "subst" "4.08197E-6" "02330" "USH1C_000140" "g.17552952C>T" "" "" "" "USH1C(NM_153676.4):c.242G>A (p.R81H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17531405C>T" "" "VUS" "" "0000311138" "0" "10" "11" "17519711" "17519711" "subst" "0.00110965" "02330" "USH1C_000113" "g.17519711C>T" "" "" "" "USH1C(NM_153676.4):c.2488G>A (p.G830R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17498164C>T" "" "benign" "" "0000311139" "0" "10" "11" "17518376" "17518376" "subst" "0.000377984" "02330" "USH1C_000111" "g.17518376G>A" "" "" "" "USH1C(NM_153676.4):c.2491-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17496829G>A" "" "benign" "" "0000311140" "0" "10" "11" "17518352" "17518352" "subst" "0.00192114" "02330" "USH1C_000110" "g.17518352G>A" "" "" "" "USH1C(NM_153676.4):c.2499C>T (p.I833=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17496805G>A" "" "benign" "" "0000311141" "0" "30" "11" "17517205" "17517205" "subst" "0.000105581" "02330" "USH1C_000168" "g.17517205C>T" "" "" "" "USH1C(NM_153676.4):c.2566G>A (p.V856I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17495658C>T" "" "likely benign" "" "0000311142" "0" "10" "11" "17552781" "17552781" "subst" "0.00107333" "02330" "USH1C_000139" "g.17552781G>A" "" "" "" "USH1C(NM_153676.4):c.307C>T (p.R103C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17531234G>A" "" "benign" "" "0000311143" "0" "10" "11" "17552707" "17552707" "subst" "0.00316201" "02330" "USH1C_000138" "g.17552707C>A" "" "" "" "USH1C(NM_153676.3):c.381G>T (p.G127=), USH1C(NM_153676.4):c.381G>T (p.G127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17531160C>A" "" "benign" "" "0000311144" "0" "30" "11" "17548863" "17548863" "subst" "0.0023056" "02330" "USH1C_000137" "g.17548863C>T" "" "" "" "USH1C(NM_153676.3):c.403G>A (p.V135I), USH1C(NM_153676.4):c.403G>A (p.V135I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17527316C>T" "" "likely benign" "" "0000311145" "0" "10" "11" "17545978" "17545978" "subst" "0.00338013" "02330" "USH1C_000133" "g.17545978G>A" "" "" "" "USH1C(NM_153676.4):c.759+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17524431G>A" "" "benign" "" "0000311146" "0" "10" "11" "17544404" "17544404" "subst" "0.000882097" "02330" "USH1C_000131" "g.17544404C>G" "" "" "" "USH1C(NM_153676.3):c.946G>C (p.E316Q), USH1C(NM_153676.4):c.946G>C (p.E316Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17522857C>G" "" "benign" "" "0000312955" "0" "10" "11" "17553105" "17553105" "subst" "0.419655" "02325" "USH1C_000144" "g.17553105G>A" "" "" "" "USH1C(NM_153676.4):c.105-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17531558G>A" "" "benign" "" "0000312956" "0" "10" "11" "17519742" "17519742" "subst" "0.484094" "02325" "USH1C_000114" "g.17519742C>G" "" "" "" "USH1C(NM_153676.4):c.2457G>C (p.E819D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17498195C>G" "" "benign" "" "0000312957" "0" "10" "11" "17519697" "17519697" "subst" "0.123839" "02325" "USH1C_000112" "g.17519697C>G" "" "" "" "USH1C(NM_153676.4):c.2490+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17498150C>G" "" "benign" "" "0000319340" "0" "50" "11" "17542491" "17542491" "subst" "0.000101515" "01943" "USH1C_000129" "g.17542491C>T" "" "" "" "USH1C(NM_153676.3):c.1136G>A (p.G379D), USH1C(NM_153676.4):c.1136G>A (p.G379D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17520944C>T" "" "VUS" "" "0000319341" "0" "30" "11" "17553080" "17553080" "subst" "0.000688503" "01943" "USH1C_000142" "g.17553080G>A" "" "" "" "USH1C(NM_153676.3):c.114C>T (p.D38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17531533G>A" "" "likely benign" "" "0000319342" "0" "50" "11" "17537793" "17537793" "subst" "1.63054E-5" "01943" "USH1C_000127" "g.17537793G>A" "" "" "" "USH1C(NM_153676.3):c.1255C>T (p.R419W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17516246G>A" "" "VUS" "" "0000319343" "0" "30" "11" "17531320" "17531320" "subst" "5.09541E-5" "01943" "USH1C_000126" "g.17531320G>A" "" "" "" "USH1C(NM_153676.3):c.1596C>T (p.F532=), USH1C(NM_153676.4):c.1596C>T (p.F532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17509773G>A" "" "likely benign" "" "0000319344" "0" "30" "11" "17531284" "17531284" "subst" "1.69814E-5" "01943" "USH1C_000125" "g.17531284G>T" "" "" "" "USH1C(NM_153676.3):c.1632C>A (p.D544E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17509737G>T" "" "likely benign" "" "0000319345" "0" "70" "11" "17531093" "17531093" "subst" "0.000473605" "01943" "USH1C_000123" "g.17531093G>C" "" "" "" "USH1C(NM_153676.3):c.1823C>G (p.P608R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17509546G>C" "" "likely pathogenic" "" "0000319346" "0" "70" "11" "17531058" "17531058" "subst" "0.000580212" "01943" "USH1C_000122" "g.17531058G>A" "" "" "" "USH1C(NM_153676.3):c.1858C>T (p.R620C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17509511G>A" "" "likely pathogenic" "" "0000319347" "0" "30" "11" "17531044" "17531044" "subst" "0.00344701" "01943" "USH1C_000121" "g.17531044C>T" "" "" "" "USH1C(NM_153676.3):c.1872G>A (p.S624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17509497C>T" "" "likely benign" "" "0000319348" "0" "50" "11" "17523530" "17523530" "subst" "0" "01943" "USH1C_000116" "g.17523530G>T" "" "" "" "USH1C(NM_153676.3):c.2185-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17501983G>T" "" "VUS" "" "0000319349" "0" "10" "11" "17522631" "17522631" "subst" "0.00309584" "01943" "USH1C_000115" "g.17522631C>A" "" "" "" "USH1C(NM_153676.3):c.2347G>T (p.A783S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17501084C>A" "" "benign" "" "0000319351" "0" "50" "11" "17518336" "17518336" "subst" "2.03064E-5" "01943" "USH1C_000169" "g.17518336C>T" "" "" "" "USH1C(NM_153676.3):c.2515G>A (p.V839I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17496789C>T" "" "VUS" "" "0000319352" "0" "30" "11" "17517160" "17517160" "subst" "0.00310645" "01943" "USH1C_000167" "g.17517160C>T" "" "" "" "USH1C(NM_153676.3):c.2611G>A (p.A871T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17495613C>T" "" "likely benign" "" "0000319353" "0" "30" "11" "17517154" "17517154" "subst" "0.000186794" "01943" "USH1C_000166" "g.17517154C>T" "" "" "" "USH1C(NM_153676.3):c.2617G>A (p.V873M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17495607C>T" "" "likely benign" "" "0000319354" "0" "30" "11" "17515883" "17515883" "subst" "0.000140482" "01943" "USH1C_000165" "g.17515883C>A" "" "" "" "USH1C(NM_153676.3):c.2696G>T (p.R899L), USH1C(NM_153676.4):c.2696G>T (p.R899L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17494336C>A" "" "likely benign" "" "0000319355" "0" "30" "11" "17552707" "17552707" "subst" "0.00316201" "01943" "USH1C_000138" "g.17552707C>A" "" "" "" "USH1C(NM_153676.3):c.381G>T (p.G127=), USH1C(NM_153676.4):c.381G>T (p.G127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17531160C>A" "" "likely benign" "" "0000319356" "0" "50" "11" "17548832" "17548832" "subst" "0" "01943" "USH1C_000136" "g.17548832C>T" "" "" "" "USH1C(NM_153676.3):c.434G>A (p.C145Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17527285C>T" "" "VUS" "" "0000319357" "0" "30" "11" "17548592" "17548592" "subst" "0" "01943" "USH1C_000135" "g.17548592G>A" "" "" "" "USH1C(NM_153676.3):c.497-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17527045G>A" "" "likely benign" "" "0000319358" "0" "30" "11" "17547920" "17547920" "subst" "0.00131304" "01943" "USH1C_000134" "g.17547920C>T" "" "" "" "USH1C(NM_153676.3):c.648G>A (p.L216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17526373C>T" "" "likely benign" "" "0000319359" "0" "30" "11" "17544956" "17544956" "subst" "0.0106767" "01943" "USH1C_000132" "g.17544956C>G" "" "" "" "USH1C(NM_153676.3):c.819+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17523409C>G" "" "likely benign" "" "0000337351" "0" "90" "11" "17517225" "17517225" "subst" "2.03072E-5" "02327" "USH1C_000145" "g.17517225C>A" "" "" "" "USH1C(NM_153676.3):c.2547-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17495678C>A" "" "pathogenic" "" "0000337352" "0" "10" "11" "17517235" "17517235" "subst" "0.411229" "02327" "USH1C_000146" "g.17517235A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17495688A>G" "" "benign" "" "0000337353" "0" "10" "11" "17519697" "17519697" "subst" "0.123839" "02327" "USH1C_000112" "g.17519697C>G" "" "" "" "USH1C(NM_153676.4):c.2490+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17498150C>G" "" "benign" "" "0000337355" "0" "90" "11" "17527497" "17527497" "subst" "0.000402243" "02327" "USH1C_000149" "g.17527497C>T" "" "" "" "USH1C(NM_153676.4):c.2014-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17505950C>T" "" "pathogenic" "" "0000337356" "0" "10" "11" "17544956" "17544956" "subst" "0.0106767" "02327" "USH1C_000132" "g.17544956C>G" "" "" "" "USH1C(NM_153676.3):c.819+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17523409C>G" "" "benign" "" "0000337357" "0" "10" "11" "17553105" "17553105" "subst" "0.419655" "02327" "USH1C_000144" "g.17553105G>A" "" "" "" "USH1C(NM_153676.4):c.105-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17531558G>A" "" "benign" "" "0000339543" "0" "10" "11" "17522638" "17522638" "subst" "0.254495" "02327" "USH1C_000147" "g.17522638G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17501091G>A" "" "benign" "" "0000339544" "0" "10" "11" "17542439" "17542439" "subst" "0.576163" "02327" "USH1C_000151" "g.17542439T>C" "" "" "" "USH1C(NM_153676.4):c.1188A>G (p.P396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17520892T>C" "" "benign" "" "0000340656" "0" "10" "11" "17531146" "17531146" "subst" "0.0612027" "02327" "USH1C_000150" "g.17531146G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17509599G>A" "" "benign" "" "0000341880" "0" "50" "11" "17548860" "17548860" "subst" "5.3011E-5" "02327" "USH1C_000153" "g.17548860G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17527313G>A" "" "VUS" "" "0000343179" "0" "50" "11" "17531058" "17531058" "subst" "0.000580212" "02327" "USH1C_000122" "g.17531058G>A" "" "" "" "USH1C(NM_153676.3):c.1858C>T (p.R620C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17509511G>A" "" "VUS" "" "0000343385" "0" "90" "11" "17552961" "17552961" "dup" "0" "02327" "USH1C_000154" "g.17552961dup" "" "" "" "USH1C(NM_153676.3):c.238dupC (p.R80Pfs*69)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000345564" "0" "10" "11" "17519742" "17519742" "subst" "0.484094" "02327" "USH1C_000114" "g.17519742C>G" "" "" "" "USH1C(NM_153676.4):c.2457G>C (p.E819D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17498195C>G" "" "benign" "" "0000348522" "0" "50" "11" "17531093" "17531093" "subst" "0.000473605" "02327" "USH1C_000123" "g.17531093G>C" "" "" "" "USH1C(NM_153676.3):c.1823C>G (p.P608R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17509546G>C" "" "VUS" "" "0000350977" "0" "90" "11" "17554801" "17554801" "subst" "0" "02327" "USH1C_000155" "g.17554801C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17533254C>T" "" "pathogenic" "" "0000358348" "3" "90" "11" "17539014" "17539014" "del" "0" "01243" "USH1C_000156" "g.17539014del" "" "Sharon, submitted" "" "NM_005709.2:c.1220del (Gly407Glufs*58)" "" "Germline" "" "" "0" "" "" "g.17517467del" "" "pathogenic" "" "0000373832" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373833" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373834" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373835" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373836" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373837" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373838" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373839" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373840" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373841" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373842" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373843" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373844" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373845" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373846" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373847" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373848" "1" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Verpy 2000:10973247}" "-DraIII" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373849" "3" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "0/192 controls" "{PMID:Bitner-Glindzicz 2000:10973248}" "-DraIII" "" "predicted splice effect questionable, correct probably r.214_248del (Val72Glufs*65)" "Germline" "yes" "" "0" "" "" "g.17531431C>T" "" "pathogenic (recessive)" "" "0000373851" "2" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Zwaenepoel 2001:11139240}" "-DraIII" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373852" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "1/454 controls" "{PMID:Ebermann 2007:17407589}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373853" "1" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "1/454 controls" "{PMID:Ebermann 2007:17407589}" "-DraIII" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373854" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "1/454 controls" "{PMID:Ebermann 2007:17407589}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373855" "1" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "1/454 controls" "{PMID:Ebermann 2007:17407589}" "-DraIII" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373856" "1" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "1/454 controls" "{PMID:Ebermann 2007:17407589}" "-DraIII" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373857" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "1/454 controls" "{PMID:Ebermann 2007:17407589}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373858" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "1/454 controls" "{PMID:Ebermann 2007:17407589}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373859" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "1/454 controls" "{PMID:Ebermann 2007:17407589}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373860" "1" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "1/454 controls" "{PMID:Ebermann 2007:17407589}" "-DraIII" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373861" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "1/454 controls" "{PMID:Ebermann 2007:17407589}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373862" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "1/454 controls" "{PMID:Ebermann 2007:17407589}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373863" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "1/454 controls" "{PMID:Ebermann 2007:17407589}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373864" "0" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Kimberling 2010:20613545}" "-DraIII" "p.Val72fs*136 (description of the splicing defect)" "heterozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373865" "3" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Roux 2011:21436283}" "-DraIII" "" "" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic (recessive)" "" "0000373867" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Bujakowska 2014:25468891}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373868" "10" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Bujakowska 2014:25468891}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373869" "1" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Bujakowska 2014:25468891}" "-DraIII" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373870" "1" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Bujakowska 2014:25468891}" "-DraIII" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373871" "1" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Bujakowska 2014:25468891}" "-DraIII" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373872" "2" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Bujakowska 2014:25468891}" "-DraIII" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373873" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Bujakowska 2014:25468891}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373874" "20" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Bujakowska 2014:25468891}" "-DraIII" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373875" "0" "99" "11" "17552978" "17552978" "subst" "3.65946E-5" "02416" "USH1C_000001" "g.17552978C>T" "" "{PMID:Bujakowska 2014:25468891}" "-DraIII" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "pathogenic" "" "0000373876" "2" "99" "11" "17546001" "17546012" "del" "0" "02416" "USH1C_000002" "g.17546001_17546012del" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17524454_17524465del" "" "pathogenic" "" "0000373877" "10" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Verpy 2000:10973247}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373878" "10" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Verpy 2000:10973247}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373879" "10" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Verpy 2000:10973247}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373880" "2" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Verpy 2000:10973247}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373881" "0" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Verpy 2000:10973247}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373882" "0" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Verpy 2000:10973247}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373883" "0" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Verpy 2000:10973247}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373884" "0" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Verpy 2000:10973247}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373885" "20" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Verpy 2000:10973247}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373886" "20" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Verpy 2000:10973247}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373887" "20" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Verpy 2000:10973247}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373890" "10" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "0/160 controls" "{PMID:Bitner-Glindzicz 2000:10973248}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373891" "3" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "0/160 controls" "{PMID:Bitner-Glindzicz 2000:10973248}" "none" "" "" "Germline" "yes" "" "0" "" "" "g.17531414dup" "" "pathogenic (recessive)" "" "0000373892" "3" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "0/160 controls" "{PMID:Bitner-Glindzicz 2000:10973248}" "none" "238dupC" "homozygous" "Germline" "yes" "" "0" "" "" "g.17531414dup" "" "pathogenic (recessive)" "" "0000373893" "20" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "0/160 controls" "{PMID:Bitner-Glindzicz 2000:10973248}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373894" "10" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Zwaenepoel 2001:11139240}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373895" "1" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Zwaenepoel 2001:11139240}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373896" "1" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Zwaenepoel 2001:11139240}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373897" "20" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Zwaenepoel 2001:11139240}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373898" "1" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Zwaenepoel 2001:11139240}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373899" "1" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Zwaenepoel 2001:11139240}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373900" "1" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Zwaenepoel 2001:11139240}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373901" "10" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Blaydon 2003:12702164}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373902" "0" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Blaydon 2003:12702164}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373903" "20" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Blaydon 2003:12702164}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373904" "10" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Ouyang 2005:15660226}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373905" "20" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Ouyang 2005:15660226}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373906" "10" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373907" "20" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Roux 2006:16679490}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373908" "1" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373909" "2" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373910" "0" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Kimberling 2010:20613545}" "none" "280inC" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373911" "11" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Bonnet 2011:21569298}" "none" "238_239dupC" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373912" "1" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Bonnet 2011:21569298}" "none" "238_239dupC" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373913" "21" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Bonnet 2011:21569298}" "none" "238_239dupC" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373914" "0" "99" "11" "17552961" "17552961" "dup" "0" "02419" "USH1C_000003" "g.17552961dup" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373915" "10" "99" "11" "17552961" "17552961" "dup" "0" "02419" "USH1C_000003" "g.17552961dup" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373916" "20" "99" "11" "17552961" "17552961" "dup" "0" "02419" "USH1C_000003" "g.17552961dup" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373917" "10" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Bujakowska 2014:25468891}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373918" "10" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Bujakowska 2014:25468891}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373919" "20" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Bujakowska 2014:25468891}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373920" "1" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Bujakowska 2014:25468891}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373921" "2" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Bujakowska 2014:25468891}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373922" "2" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Bujakowska 2014:25468891}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373923" "2" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Bujakowska 2014:25468891}" "none" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373924" "20" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "{PMID:Bujakowska 2014:25468891}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373925" "10" "99" "11" "17552961" "17552961" "dup" "0" "02428" "USH1C_000003" "g.17552961dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373926" "10" "99" "11" "17552961" "17552961" "dup" "0" "02428" "USH1C_000003" "g.17552961dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373927" "21" "99" "11" "17552961" "17552961" "dup" "0" "02428" "USH1C_000003" "g.17552961dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373928" "1" "99" "11" "17552961" "17552961" "dup" "0" "02428" "USH1C_000003" "g.17552961dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373929" "0" "99" "11" "17552961" "17552961" "dup" "0" "02428" "USH1C_000003" "g.17552961dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373930" "20" "99" "11" "17552961" "17552961" "dup" "0" "02428" "USH1C_000003" "g.17552961dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373931" "20" "99" "11" "17552961" "17552961" "dup" "0" "02428" "USH1C_000003" "g.17552961dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373932" "21" "99" "11" "17552961" "17552961" "dup" "0" "02428" "USH1C_000003" "g.17552961dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373933" "10" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373935" "20" "99" "11" "17552961" "17552961" "dup" "0" "02416" "USH1C_000003" "g.17552961dup" "" "" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000373937" "2" "99" "11" "17548803" "17548803" "subst" "8.12394E-6" "02416" "USH1C_000004" "g.17548803G>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "" "" "heterozygous" "Germline" "" "rs377145777" "0" "" "" "g.17527256G>A" "" "pathogenic" "" "0000373938" "0" "99" "11" "17548803" "17548803" "subst" "8.12394E-6" "02416" "USH1C_000004" "g.17548803G>A" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "rs377145777" "0" "" "" "g.17527256G>A" "" "pathogenic" "" "0000373939" "11" "99" "11" "17548803" "17548803" "subst" "8.12394E-6" "02428" "USH1C_000004" "g.17548803G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "rs377145777" "0" "" "" "g.17527256G>A" "" "pathogenic" "" "0000373940" "21" "99" "11" "17548803" "17548803" "subst" "8.12394E-6" "02428" "USH1C_000004" "g.17548803G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "rs377145777" "0" "" "" "g.17527256G>A" "" "pathogenic" "" "0000373941" "2" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02416" "USH1C_000005" "g.17548769C>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17527222C>A" "" "pathogenic" "" "0000373942" "2" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02416" "USH1C_000005" "g.17548769C>A" "0/200 controls" "{PMID:Ebermann 2007:17407589}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17527222C>A" "" "pathogenic" "" "0000373943" "0" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02416" "USH1C_000005" "g.17548769C>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17527222C>A" "" "pathogenic" "" "0000373944" "0" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02416" "USH1C_000005" "g.17548769C>A" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17527222C>A" "" "pathogenic" "" "0000373945" "0" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02416" "USH1C_000005" "g.17548769C>A" "" "{PMID:Bujakowska 2014:25468891}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17527222C>A" "" "pathogenic" "" "0000373946" "2" "99" "11" "17547990" "17547990" "subst" "0" "02416" "USH1C_000006" "g.17547990T>A" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17526443T>A" "" "VUS" "ACMG" "0000373947" "1" "99" "11" "17547990" "17547990" "subst" "0" "02428" "USH1C_000006" "g.17547990T>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.17526443T>A" "" "VUS" "ACMG" "0000373948" "1" "75" "11" "17552780" "17552780" "subst" "4.06504E-6" "02416" "USH1C_000007" "g.17552780C>T" "0/352 controls" "{PMID:Roux 2006:16679490}; USMA-{USMAUSH1CR103H:} USMA-{MSV3dQ9Y6N9p.Arg103His:}" "+FatI;+NlaIII;+CviAII;+HpyCH4V;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531233C>T" "" "VUS" "ACMG" "0000373949" "21" "75" "11" "17552780" "17552780" "subst" "4.06504E-6" "02419" "USH1C_000007" "g.17552780C>T" "0/866 controls" "{PMID:Saihan 2011:21487335}; USMA-{USMAUSH1CR103H:} USMA-{MSV3dQ9Y6N9p.Arg103His:}" "+FatI;+NlaIII;+CviAII;+HpyCH4V;" "" "heterozygous; likely pathogenic" "Germline" "" "" "0" "" "" "g.17531233C>T" "" "VUS" "ACMG" "0000373950" "21" "75" "11" "17552780" "17552780" "subst" "4.06504E-6" "02419" "USH1C_000007" "g.17552780C>T" "0/866 controls" "{PMID:Saihan 2011:21487335}; USMA-{USMAUSH1CR103H:} USMA-{MSV3dQ9Y6N9p.Arg103His:}" "+FatI;+NlaIII;+CviAII;+HpyCH4V;" "" "heterozygous; likely pathogenic" "Germline" "" "" "0" "" "" "g.17531233C>T" "" "benign" "" "0000373951" "2" "75" "11" "17552780" "17552780" "subst" "4.06504E-6" "02416" "USH1C_000007" "g.17552780C>T" "0/306 controls" "{PMID:Bonnet 2011:21569298}; USMA-{USMAUSH1CR103H:} USMA-{MSV3dQ9Y6N9p.Arg103His:}" "+FatI;+NlaIII;+CviAII;+HpyCH4V;" "" "heterozygous; Presumably pathogenic" "Germline" "" "" "0" "" "" "g.17531233C>T" "" "benign" "" "0000373954" "0" "11" "11" "17519742" "17519742" "subst" "0.484094" "02416" "USH1C_000008" "g.17519742C>G" "" "{PMID:Roux 2006:16679490}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "heterozygous" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373955" "0" "11" "11" "17519742" "17519742" "subst" "0.484094" "02416" "USH1C_000008" "g.17519742C>G" "" "{PMID:Roux 2011:21436283}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "heterozygous" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373956" "10" "11" "11" "17519742" "17519742" "subst" "0.484094" "02419" "USH1C_000008" "g.17519742C>G" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "homozygous; Neutral" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373957" "20" "11" "11" "17519742" "17519742" "subst" "0.484094" "02419" "USH1C_000008" "g.17519742C>G" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "homozygous; Neutral" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373958" "10" "11" "11" "17519742" "17519742" "subst" "0.484094" "02419" "USH1C_000008" "g.17519742C>G" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "homozygous; Neutral" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373959" "20" "11" "11" "17519742" "17519742" "subst" "0.484094" "02419" "USH1C_000008" "g.17519742C>G" "" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "homozygous; Neutral" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373960" "10" "11" "11" "17519742" "17519742" "subst" "0.484094" "02416" "USH1C_000008" "g.17519742C>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "homozygous" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373961" "10" "11" "11" "17519742" "17519742" "subst" "0.484094" "02416" "USH1C_000008" "g.17519742C>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "homozygous" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373962" "20" "11" "11" "17519742" "17519742" "subst" "0.484094" "02416" "USH1C_000008" "g.17519742C>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "homozygous" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373963" "3" "11" "11" "17519742" "17519742" "subst" "0.484094" "02416" "USH1C_000008" "g.17519742C>G" "" "{PMID:Roux 2011:21436283}, USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373965" "0" "11" "11" "17519742" "17519742" "subst" "0.484094" "02416" "USH1C_000008" "g.17519742C>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "heterozygous" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373966" "20" "11" "11" "17519742" "17519742" "subst" "0.484094" "02416" "USH1C_000008" "g.17519742C>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "homozygous" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373967" "0" "11" "11" "17519742" "17519742" "subst" "0.484094" "02416" "USH1C_000008" "g.17519742C>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "heterozygous; non causative" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373968" "0" "11" "11" "17519742" "17519742" "subst" "0.484094" "02416" "USH1C_000008" "g.17519742C>G" "" "{PMID:Rong 2014:24831256}; USMA-{USMAUSH1CE819D:} USMA-{MSV3dQ7RTU8p.Glu819Asp:}" "+HgaI;-MnlI;-DdeI;-BspCNI;-CviKI_1;" "" "heterozygous; non causative" "Germline" "" "rs1064074" "0" "" "" "g.17498195C>G" "" "benign" "" "0000373969" "0" "11" "11" "17519697" "17519697" "subst" "0.123839" "02416" "USH1C_000009" "g.17519697C>G" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs2072232" "0" "" "" "g.17498150C>G" "" "benign" "" "0000373970" "0" "11" "11" "17519697" "17519697" "subst" "0.123839" "02416" "USH1C_000009" "g.17519697C>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "rs2072232" "0" "" "" "g.17498150C>G" "" "benign" "" "0000373971" "0" "11" "11" "17519697" "17519697" "subst" "0.123839" "02416" "USH1C_000009" "g.17519697C>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "rs2072232" "0" "" "" "g.17498150C>G" "" "benign" "" "0000373972" "0" "11" "11" "17519864" "17519864" "subst" "0.121935" "02416" "USH1C_000010" "g.17519864C>T" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs2072233" "0" "" "" "g.17498317C>T" "" "benign" "" "0000373973" "0" "11" "11" "17519864" "17519864" "subst" "0.121935" "02416" "USH1C_000010" "g.17519864C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "rs2072233" "0" "" "" "g.17498317C>T" "" "benign" "" "0000373974" "0" "11" "11" "17519864" "17519864" "subst" "0.121935" "02416" "USH1C_000010" "g.17519864C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "rs2072233" "0" "" "" "g.17498317C>T" "" "benign" "" "0000373975" "0" "11" "11" "17522718" "17522718" "subst" "4.30726E-6" "02416" "USH1C_000011" "g.17522718C>T" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17501171C>T" "" "benign" "" "0000373976" "0" "11" "11" "17533397" "17533397" "subst" "0" "02416" "USH1C_000012" "g.17533397G>A" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs2190453" "0" "" "" "g.17511850G>A" "" "benign" "" "0000373977" "10" "11" "11" "17533397" "17533397" "subst" "0" "02416" "USH1C_000012" "g.17533397G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "rs2190453" "0" "" "" "g.17511850G>A" "" "benign" "" "0000373978" "20" "11" "11" "17533397" "17533397" "subst" "0" "02416" "USH1C_000012" "g.17533397G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "rs2190453" "0" "" "" "g.17511850G>A" "" "benign" "" "0000373979" "10" "11" "11" "17533397" "17533397" "subst" "0" "02416" "USH1C_000012" "g.17533397G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "rs2190453" "0" "" "" "g.17511850G>A" "" "benign" "" "0000373980" "20" "11" "11" "17533397" "17533397" "subst" "0" "02416" "USH1C_000012" "g.17533397G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "rs2190453" "0" "" "" "g.17511850G>A" "" "benign" "" "0000373981" "10" "11" "11" "17533635" "17533635" "subst" "0.717308" "02416" "USH1C_000013" "g.17533635G>A" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs2190454" "0" "" "" "g.17512088G>A" "" "benign" "" "0000373982" "20" "11" "11" "17533635" "17533635" "subst" "0.717308" "02416" "USH1C_000013" "g.17533635G>A" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs2190454" "0" "" "" "g.17512088G>A" "" "benign" "" "0000373983" "10" "11" "11" "17533635" "17533635" "subst" "0.717308" "02416" "USH1C_000013" "g.17533635G>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs2190454" "0" "" "" "g.17512088G>A" "" "benign" "" "0000373984" "20" "11" "11" "17533635" "17533635" "subst" "0.717308" "02416" "USH1C_000013" "g.17533635G>A" "" "{PMID:Roux 2011:21436283}" "" "" "homozygous" "Germline" "" "rs2190454" "0" "" "" "g.17512088G>A" "" "benign" "" "0000373985" "10" "11" "11" "17533635" "17533635" "subst" "0.717308" "02416" "USH1C_000013" "g.17533635G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "rs2190454" "0" "" "" "g.17512088G>A" "" "benign" "" "0000373986" "20" "11" "11" "17533635" "17533635" "subst" "0.717308" "02416" "USH1C_000013" "g.17533635G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "rs2190454" "0" "" "" "g.17512088G>A" "" "benign" "" "0000373987" "10" "11" "11" "17533635" "17533635" "subst" "0.717308" "02416" "USH1C_000013" "g.17533635G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "rs2190454" "0" "" "" "g.17512088G>A" "" "benign" "" "0000373988" "20" "11" "11" "17533635" "17533635" "subst" "0.717308" "02416" "USH1C_000013" "g.17533635G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "rs2190454" "0" "" "" "g.17512088G>A" "" "benign" "" "0000373989" "0" "11" "11" "17537705" "17537705" "subst" "0" "02416" "USH1C_000014" "g.17537705G>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "rs2237961" "0" "" "" "g.17516158G>C" "" "benign" "" "0000373990" "0" "11" "11" "17537705" "17537705" "subst" "0" "02416" "USH1C_000014" "g.17537705G>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "rs2237961" "0" "" "" "g.17516158G>C" "" "benign" "" "0000373991" "0" "11" "11" "17542439" "17542439" "subst" "0.576163" "02416" "USH1C_000015" "g.17542439T>C" "" "{PMID:Roux 2011:21436283}" "+BssKI;+NlaIV;+StyD4I;+MspI;-BsrI;-BmrI;" "" "heterozygous" "Germline" "" "rs2240487" "0" "" "" "g.17520892T>C" "" "benign" "" "0000373992" "10" "11" "11" "17542439" "17542439" "subst" "0.576163" "02419" "USH1C_000015" "g.17542439T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BssKI;+NlaIV;+StyD4I;+MspI;-BsrI;-BmrI;" "" "homozygous; Neutral" "Germline" "" "rs2240487" "0" "" "" "g.17520892T>C" "" "benign" "" "0000373993" "20" "11" "11" "17542439" "17542439" "subst" "0.576163" "02419" "USH1C_000015" "g.17542439T>C" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+BssKI;+NlaIV;+StyD4I;+MspI;-BsrI;-BmrI;" "" "homozygous; Neutral" "Germline" "" "rs2240487" "0" "" "" "g.17520892T>C" "" "benign" "" "0000373994" "10" "11" "11" "17542439" "17542439" "subst" "0.576163" "02416" "USH1C_000015" "g.17542439T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BssKI;+NlaIV;+StyD4I;+MspI;-BsrI;-BmrI;" "" "homozygous" "Germline" "" "rs2240487" "0" "" "" "g.17520892T>C" "" "benign" "" "0000373995" "20" "11" "11" "17542439" "17542439" "subst" "0.576163" "02416" "USH1C_000015" "g.17542439T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BssKI;+NlaIV;+StyD4I;+MspI;-BsrI;-BmrI;" "" "homozygous" "Germline" "" "rs2240487" "0" "" "" "g.17520892T>C" "" "benign" "" "0000373996" "3" "11" "11" "17542439" "17542439" "subst" "0.576163" "02416" "USH1C_000015" "g.17542439T>C" "" "{PMID:Roux 2011:21436283}" "+BssKI;+NlaIV;+StyD4I;+MspI;-BsrI;-BmrI;" "" "" "Germline" "" "rs2240487" "0" "" "" "g.17520892T>C" "" "benign" "" "0000373998" "10" "11" "11" "17542439" "17542439" "subst" "0.576163" "02416" "USH1C_000015" "g.17542439T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BssKI;+NlaIV;+StyD4I;+MspI;-BsrI;-BmrI;" "" "homozygous" "Germline" "" "rs2240487" "0" "" "" "g.17520892T>C" "" "benign" "" "0000373999" "20" "11" "11" "17542439" "17542439" "subst" "0.576163" "02416" "USH1C_000015" "g.17542439T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BssKI;+NlaIV;+StyD4I;+MspI;-BsrI;-BmrI;" "" "homozygous" "Germline" "" "rs2240487" "0" "" "" "g.17520892T>C" "" "benign" "" "0000374000" "0" "11" "11" "17542872" "17542872" "subst" "0.467795" "02416" "USH1C_000016" "g.17542872G>C" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs2240488" "0" "" "" "g.17521325G>C" "" "benign" "" "0000374001" "10" "11" "11" "17542872" "17542872" "subst" "0.467795" "02416" "USH1C_000016" "g.17542872G>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "rs2240488" "0" "" "" "g.17521325G>C" "" "benign" "" "0000374002" "20" "11" "11" "17542872" "17542872" "subst" "0.467795" "02416" "USH1C_000016" "g.17542872G>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "rs2240488" "0" "" "" "g.17521325G>C" "" "benign" "" "0000374003" "10" "11" "11" "17542872" "17542872" "subst" "0.467795" "02416" "USH1C_000016" "g.17542872G>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "rs2240488" "0" "" "" "g.17521325G>C" "" "benign" "" "0000374004" "20" "11" "11" "17542872" "17542872" "subst" "0.467795" "02416" "USH1C_000016" "g.17542872G>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "homozygous" "Germline" "" "rs2240488" "0" "" "" "g.17521325G>C" "" "benign" "" "0000374005" "0" "11" "11" "17545056" "17545056" "subst" "0" "02416" "USH1C_000017" "g.17545056T>G" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17523509T>G" "" "benign" "" "0000374006" "0" "11" "11" "17548507" "17548507" "subst" "0" "02416" "USH1C_000018" "g.17548507T>C" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "rs41282940" "0" "" "" "g.17526960T>C" "" "benign" "" "0000374007" "10" "11" "11" "17554914" "17554914" "subst" "0.53971" "02416" "USH1C_000019" "g.17554914G>C" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs2240489" "0" "" "" "g.17533367G>C" "" "benign" "" "0000374008" "20" "11" "11" "17554914" "17554914" "subst" "0.53971" "02416" "USH1C_000019" "g.17554914G>C" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs2240489" "0" "" "" "g.17533367G>C" "" "benign" "" "0000374009" "0" "11" "11" "17554914" "17554914" "subst" "0.53971" "02416" "USH1C_000019" "g.17554914G>C" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs2240489" "0" "" "" "g.17533367G>C" "" "benign" "" "0000374010" "3" "11" "11" "17554914" "17554914" "subst" "0.53971" "02416" "USH1C_000019" "g.17554914G>C" "" "{PMID:Roux 2011:21436283}" "" "" "" "Germline" "" "rs2240489" "0" "" "" "g.17533367G>C" "" "benign" "" "0000374012" "0" "11" "11" "17554914" "17554914" "subst" "0.53971" "02416" "USH1C_000019" "g.17554914G>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "rs2240489" "0" "" "" "g.17533367G>C" "" "benign" "" "0000374013" "0" "11" "11" "17554914" "17554914" "subst" "0.53971" "02416" "USH1C_000019" "g.17554914G>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "rs2240489" "0" "" "" "g.17533367G>C" "" "benign" "" "0000374014" "0" "11" "11" "17554916" "17554916" "subst" "0.126842" "02416" "USH1C_000020" "g.17554916C>A" "" "{PMID:Roux 2006:16679490}" "" "" "heterozygous" "Germline" "" "rs2355022" "0" "" "" "g.17533369C>A" "" "benign" "" "0000374015" "10" "11" "11" "17554916" "17554916" "subst" "0.126842" "02416" "USH1C_000020" "g.17554916C>A" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs2355022" "0" "" "" "g.17533369C>A" "" "benign" "" "0000374016" "20" "11" "11" "17554916" "17554916" "subst" "0.126842" "02416" "USH1C_000020" "g.17554916C>A" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs2355022" "0" "" "" "g.17533369C>A" "" "benign" "" "0000374017" "0" "11" "11" "17554916" "17554916" "subst" "0.126842" "02416" "USH1C_000020" "g.17554916C>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "rs2355022" "0" "" "" "g.17533369C>A" "" "benign" "" "0000374018" "10" "11" "11" "17523538" "17523538" "subst" "0" "02416" "USH1C_000021" "g.17523538A>G" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17501991A>G" "" "benign" "" "0000374019" "20" "11" "11" "17523538" "17523538" "subst" "0" "02416" "USH1C_000021" "g.17523538A>G" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17501991A>G" "" "benign" "" "0000374020" "10" "11" "11" "17531044" "17531044" "subst" "0.00344701" "02416" "USH1C_000022" "g.17531044C>T" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17509497C>T" "" "benign" "" "0000374021" "20" "11" "11" "17531044" "17531044" "subst" "0.00344701" "02416" "USH1C_000022" "g.17531044C>T" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17509497C>T" "" "benign" "" "0000374022" "10" "11" "11" "17532102" "17532102" "subst" "0.161582" "02416" "USH1C_000023" "g.17532102C>T" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs2237964" "0" "" "" "g.17510555C>T" "" "benign" "" "0000374023" "20" "11" "11" "17532102" "17532102" "subst" "0.161582" "02416" "USH1C_000023" "g.17532102C>T" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs2237964" "0" "" "" "g.17510555C>T" "" "benign" "" "0000374024" "10" "11" "11" "17522631" "17522631" "subst" "0.00309584" "02416" "USH1C_000024" "g.17522631C>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAUSH1CA783S:} USMA-{MSV3dQ7RTU8p.Ala783Ser:}" "" "" "homozygous" "Germline" "" "rs34077456" "0" "" "" "g.17501084C>A" "" "benign" "" "0000374025" "20" "11" "11" "17522631" "17522631" "subst" "0.00309584" "02416" "USH1C_000024" "g.17522631C>A" "" "{PMID:Roux 2006:16679490}; USMA-{USMAUSH1CA783S:} USMA-{MSV3dQ7RTU8p.Ala783Ser:}" "" "" "homozygous" "Germline" "" "rs34077456" "0" "" "" "g.17501084C>A" "" "benign" "" "0000374026" "0" "11" "11" "17522631" "17522631" "subst" "0.00309584" "02419" "USH1C_000024" "g.17522631C>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAUSH1CA783S:} USMA-{MSV3dQ7RTU8p.Ala783Ser:}" "+MboII" "" "heterozygous; Neutral" "Germline" "" "rs34077456" "0" "" "" "g.17501084C>A" "" "benign" "" "0000374027" "10" "11" "11" "17544725" "17544725" "subst" "0.00411078" "02416" "USH1C_000025" "g.17544725C>T" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs114884519" "0" "" "" "g.17523178C>T" "" "benign" "" "0000374028" "20" "11" "11" "17544725" "17544725" "subst" "0.00411078" "02416" "USH1C_000025" "g.17544725C>T" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs114884519" "0" "" "" "g.17523178C>T" "" "benign" "" "0000374029" "10" "11" "11" "17552794" "17552794" "subst" "0.0053909" "02416" "USH1C_000026" "g.17552794G>A" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs34055234" "0" "" "" "g.17531247G>A" "" "benign" "" "0000374030" "20" "11" "11" "17552794" "17552794" "subst" "0.0053909" "02416" "USH1C_000026" "g.17552794G>A" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs34055234" "0" "" "" "g.17531247G>A" "" "benign" "" "0000374031" "10" "11" "11" "17554917" "17554917" "subst" "0.000563505" "02416" "USH1C_000027" "g.17554917C>A" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17533370C>A" "" "benign" "" "0000374032" "20" "11" "11" "17554917" "17554917" "subst" "0.000563505" "02416" "USH1C_000027" "g.17554917C>A" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17533370C>A" "" "benign" "" "0000374033" "10" "11" "11" "17554930" "17554930" "subst" "0" "02416" "USH1C_000028" "g.17554930T>C" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs878546" "0" "" "" "g.17533383T>C" "" "benign" "" "0000374034" "20" "11" "11" "17554930" "17554930" "subst" "0" "02416" "USH1C_000028" "g.17554930T>C" "" "{PMID:Roux 2006:16679490}" "" "" "homozygous" "Germline" "" "rs878546" "0" "" "" "g.17533383T>C" "" "pathogenic" "" "0000374035" "0" "11" "11" "17554930" "17554930" "subst" "0" "02416" "USH1C_000028" "g.17554930T>C" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs878546" "0" "" "" "g.17533383T>C" "" "pathogenic" "" "0000374036" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374037" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374038" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374039" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374040" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374041" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374042" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374043" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374044" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374045" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374046" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374047" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374048" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374049" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374050" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374051" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374052" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374053" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374054" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374055" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374056" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374057" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Verpy 2000:10973247}" "+BstUI;+MwoI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374058" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "" "{PMID:Rizel 2012:22219650}" "+BstUI;+MwoI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374059" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "" "{PMID:Rizel 2012:22219650}" "+BstUI;+MwoI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374060" "10" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Rizel 2012:22219650}" "+BstUI;+MwoI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374061" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "" "{PMID:Rizel 2012:22219650}" "+BstUI;+MwoI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17527042del" "" "pathogenic" "" "0000374062" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "" "{PMID:Rizel 2012:22219650}" "+BstUI;+MwoI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17527042del" "" "benign" "" "0000374063" "20" "99" "11" "17548589" "17548589" "del" "0" "02416" "USH1C_000029" "g.17548589del" "0/200 controls" "{PMID:Rizel 2012:22219650}" "+BstUI;+MwoI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17527042del" "" "benign" "" "0000374064" "10" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374065" "10" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374066" "10" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374067" "10" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374068" "10" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374069" "10" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374070" "10" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374071" "10" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374072" "10" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374073" "10" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374074" "20" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374075" "20" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374076" "20" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374077" "20" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374078" "20" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374079" "20" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374080" "20" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374081" "20" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374082" "20" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374083" "20" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "benign" "" "0000374084" "1" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Verpy 2000:10973247}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "pathogenic" "" "0000374085" "2" "11" "11" "17548666" "17548667" "ins" "0" "02416" "USH1C_000030" "g.17548666_17548667insTGCCCCTGCTCC" "" "{PMID:Zwaenepoel 2001:11139240}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17527119_17527120insTGCCCCTGCTCC" "" "pathogenic" "" "0000374086" "2" "99" "11" "17554815" "17554815" "subst" "8.12929E-6" "02416" "USH1C_000031" "g.17554815G>A" "" "{PMID:Zwaenepoel 2001:11139240}" "" "" "heterozygous" "Germline" "" "rs121908370" "0" "" "" "g.17533268G>A" "" "pathogenic" "" "0000374087" "2" "99" "11" "17565818" "17565818" "subst" "0" "02416" "USH1C_000032" "g.17565818C>A" "0/100 controls" "{PMID:Zwaenepoel 2001:11139240}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17544271C>A" "" "pathogenic" "" "0000374088" "2" "99" "11" "17565818" "17565818" "subst" "0" "02416" "USH1C_000032" "g.17565818C>A" "0/100 controls" "{PMID:Zwaenepoel 2001:11139240}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17544271C>A" "" "pathogenic" "" "0000374089" "2" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02416" "USH1C_000033" "g.17548769C>T" "0/100 controls" "{PMID:Zwaenepoel 2001:11139240}" "+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;" "" "heterozygous" "Germline" "" "rs138138689" "0" "" "" "g.17527222C>T" "" "pathogenic" "" "0000374090" "10" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02419" "USH1C_000033" "g.17548769C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;" "" "heterozygous; Pathogenic" "Germline" "" "rs138138689" "0" "" "" "g.17527222C>T" "" "pathogenic" "" "0000374091" "10" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02419" "USH1C_000033" "g.17548769C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;" "" "homozygous; Pathogenic" "Germline" "" "rs138138689" "0" "" "" "g.17527222C>T" "" "pathogenic" "" "0000374092" "20" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02419" "USH1C_000033" "g.17548769C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;" "" "homozygous; Pathogenic" "Germline" "" "rs138138689" "0" "" "" "g.17527222C>T" "" "pathogenic" "" "0000374093" "10" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02419" "USH1C_000033" "g.17548769C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;" "" "homozygous; Pathogenic" "Germline" "" "rs138138689" "0" "" "" "g.17527222C>T" "" "pathogenic" "" "0000374094" "20" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02419" "USH1C_000033" "g.17548769C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;" "" "homozygous; Pathogenic" "Germline" "" "rs138138689" "0" "" "" "g.17527222C>T" "" "pathogenic" "" "0000374095" "10" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02419" "USH1C_000033" "g.17548769C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;" "" "homozygous; Pathogenic" "Germline" "" "rs138138689" "0" "" "" "g.17527222C>T" "" "pathogenic" "" "0000374096" "20" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02419" "USH1C_000033" "g.17548769C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;" "" "homozygous; Pathogenic" "Germline" "" "rs138138689" "0" "" "" "g.17527222C>T" "" "pathogenic" "" "0000374097" "10" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02419" "USH1C_000033" "g.17548769C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;" "" "homozygous; Pathogenic" "Germline" "" "rs138138689" "0" "" "" "g.17527222C>T" "" "pathogenic" "" "0000374098" "20" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02419" "USH1C_000033" "g.17548769C>T" "" "{PMID:Le Quesne Stabej 2012:22135276}" "+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;" "" "homozygous; Pathogenic" "Germline" "" "rs138138689" "0" "" "" "g.17527222C>T" "" "pathogenic" "" "0000374099" "10" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02416" "USH1C_000033" "g.17548769C>T" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;" "" "homozygous; certainly pathogenic" "Germline" "" "rs138138689" "0" "" "" "g.17527222C>T" "" "pathogenic" "" "0000374100" "20" "99" "11" "17548769" "17548769" "subst" "2.43833E-5" "02416" "USH1C_000033" "g.17548769C>T" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "+FatI;+NlaIII;+CviAII;-BsmBI;-HpyCH4IV;-BmgBI;" "" "homozygous; certainly pathogenic" "Germline" "" "rs138138689" "0" "" "" "g.17527222C>T" "" "pathogenic" "" "0000374101" "3" "99" "11" "17431532" "17554222" "del" "0" "02416" "USH1C_000034" "g.17431532_17554222del" "" "{PMID:Bitner-Glindzicz 2000:10973248}" "" "105_2700del" "" "Germline" "yes" "" "0" "" "" "g.17409985_17532675del" "" "pathogenic (recessive)" "" "0000374102" "3" "99" "11" "17431532" "17554222" "del" "0" "02416" "USH1C_000034" "g.17431532_17554222del" "" "{PMID:Bitner-Glindzicz 2000:10973248}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17409985_17532675del" "" "pathogenic (recessive)" "" "0000374103" "3" "99" "11" "17431532" "17554222" "del" "0" "02416" "USH1C_000034" "g.17431532_17554222del" "" "{PMID:Bitner-Glindzicz 2000:10973248}" "" "105_2700del" "" "Germline" "yes" "" "0" "" "" "g.17409985_17532675del" "" "pathogenic (recessive)" "" "0000374107" "0" "15" "11" "17548878" "17548878" "subst" "0.00300715" "02416" "USH1C_000035" "g.17548878C>T" "0/192 controls" "{PMID:Blaydon 2003:12702164}; USMA-{USMAUSH1CV130I:} USMA-{MSV3dQ9Y6N9p.Val130Ile:}" "" "" "heterozygous" "Germline" "" "rs55843567" "0" "" "" "g.17527331C>T" "" "likely benign" "ACMG" "0000374108" "10" "35" "11" "17531093" "17531093" "subst" "0.000473605" "02416" "USH1C_000036" "g.17531093G>C" "0/220 controls" "{PMID:Ouyang 2002:12136232}; USMA-{USMAUSH1CP608R:} USMA-{MSV3dQ7RTU8p.Pro608Arg:}" "" "" "homozygous" "Germline" "" "rs41282932" "0" "" "" "g.17509546G>C" "" "VUS" "ACMG" "0000374109" "20" "35" "11" "17531093" "17531093" "subst" "0.000473605" "02416" "USH1C_000036" "g.17531093G>C" "0/220 controls" "{PMID:Ouyang 2002:12136232}; USMA-{USMAUSH1CP608R:} USMA-{MSV3dQ7RTU8p.Pro608Arg:}" "" "" "homozygous" "Germline" "" "rs41282932" "0" "" "" "g.17509546G>C" "" "VUS" "ACMG" "0000374110" "0" "75" "11" "17533570" "17533570" "subst" "5.68593E-5" "02416" "USH1C_000037" "g.17533570C>A" "0/180 controls" "{PMID:Ouyang 2002:12136232}; USMA-{USMAUSH1CG431V:} USMA-{MSV3dQ9Y6N9p.Gly431Val:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17512023C>A" "" "VUS" "ACMG" "0000374111" "0" "75" "11" "17531057" "17531057" "subst" "0.00264144" "02416" "USH1C_000038" "g.17531057C>A" "0/180 controls" "{PMID:Ouyang 2002:12136232}; USMA-{USMAUSH1CR620L:} USMA-{MSV3dQ7RTU8p.Arg620Leu:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17509510C>A" "" "VUS" "ACMG" "0000374112" "0" "75" "11" "17531057" "17531057" "subst" "0.00264144" "02416" "USH1C_000038" "g.17531057C>A" "" "{PMID:Aparisi 2014:25404053}; USMA-{USMAUSH1CR620L:} USMA-{MSV3dQ7RTU8p.Arg620Leu:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17509510C>A" "" "VUS" "ACMG" "0000374113" "1" "75" "11" "17531057" "17531057" "subst" "0.00264144" "02428" "USH1C_000038" "g.17531057C>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; Possibly pathogenic" "Germline" "" "rs139996942" "0" "" "" "g.17509510C>A" "" "pathogenic" "" "0000374114" "0" "75" "11" "17531010" "17531010" "subst" "0.000341702" "02416" "USH1C_000039" "g.17531010G>A" "0/180 controls" "{PMID:Ouyang 2002:12136232}; USMA-{USMAUSH1CR636C:} USMA-{MSV3dQ7RTU8p.Arg636Cys:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17509463G>A" "" "pathogenic" "" "0000374115" "0" "99" "11" "17542894" "17542894" "subst" "0" "02416" "USH1C_000040" "g.17542894G>A" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17521347G>A" "" "pathogenic" "" "0000374116" "10" "99" "11" "17542894" "17542894" "subst" "0" "02416" "USH1C_000040" "g.17542894G>A" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.17521347G>A" "" "pathogenic" "" "0000374117" "10" "99" "11" "17542894" "17542894" "subst" "0" "02416" "USH1C_000040" "g.17542894G>A" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.17521347G>A" "" "pathogenic" "" "0000374118" "20" "99" "11" "17542894" "17542894" "subst" "0" "02416" "USH1C_000040" "g.17542894G>A" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.17521347G>A" "" "likely benign" "ACMG" "0000374119" "20" "99" "11" "17542894" "17542894" "subst" "0" "02416" "USH1C_000040" "g.17542894G>A" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.17521347G>A" "" "likely pathogenic" "ACMG" "0000374120" "0" "15" "11" "17554912" "17554913" "dup" "0" "02416" "USH1C_000041" "g.17554912_17554913dup" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs5789992" "0" "" "" "g.17533365_17533366dup" "" "benign" "" "0000374121" "0" "95" "11" "17542411" "17542411" "subst" "0" "02416" "USH1C_000042" "g.17542411A>C" "0/200 controls" "{PMID:Le Guédard-Méreuze 2010:20052763}" "none" "" "heterozygous; del last 31 nt E14 + skipping E14" "Germline" "" "" "0" "" "" "g.17520864A>C" "" "likely benign" "ACMG" "0000374122" "0" "11" "11" "17526256" "17526256" "subst" "0" "02416" "USH1C_000043" "g.17526256A>G" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs76769358" "0" "" "" "g.17504709A>G" "" "benign" "" "0000374123" "0" "15" "11" "17526266" "17526266" "del" "0" "02416" "USH1C_000044" "g.17526266del" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17504719del" "" "benign" "" "0000374124" "0" "11" "11" "17553105" "17553105" "subst" "0.419655" "02416" "USH1C_000045" "g.17553105G>A" "" "{PMID:Roux 2011:21436283}" "-BssKI;-NciI;-BsmI;-ScrFI;-StyD4I;" "" "heterozygous" "Germline" "" "rs2041027" "0" "" "" "g.17531558G>A" "" "benign" "" "0000374125" "3" "11" "11" "17553105" "17553105" "subst" "0.419655" "02416" "USH1C_000045" "g.17553105G>A" "" "{PMID:Roux 2011:21436283}" "-BssKI;-NciI;-BsmI;-ScrFI;-StyD4I;" "" "" "Germline" "" "rs2041027" "0" "" "" "g.17531558G>A" "" "benign" "" "0000374127" "0" "11" "11" "17548402" "17548402" "del" "0.32902" "02416" "USH1C_000046" "g.17548402del" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs5789990" "0" "" "" "g.17526855del" "" "benign" "" "0000374128" "0" "11" "11" "17548015" "17548015" "subst" "0.312362" "02416" "USH1C_000047" "g.17548015C>T" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "rs6486378" "0" "" "" "g.17526468C>T" "" "benign" "" "0000374131" "0" "15" "11" "17547843" "17547843" "subst" "0" "02416" "USH1C_000048" "g.17547843C>T" "" "{PMID:Roux 2011:21436283}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17526296C>T" "" "benign" "" "0000374132" "3" "11" "11" "17548239" "17548239" "subst" "0" "02416" "USH1C_000049" "g.17548239C>T" "" "{PMID:Roux 2011:21436283}" "+MscI;+BsrI;-MspI;-HpaII;-Sau96I;-AvaII;" "" "" "Germline" "" "rs72870320" "0" "" "" "g.17526692C>T" "" "benign" "" "0000374134" "0" "11" "11" "17548239" "17548239" "subst" "0" "02416" "USH1C_000049" "g.17548239C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+MscI;+BsrI;-MspI;-HpaII;-Sau96I;-AvaII;" "" "heterozygous" "Germline" "" "rs72870320" "0" "" "" "g.17526692C>T" "" "benign" "" "0000374135" "3" "11" "11" "17522638" "17522638" "subst" "0.254495" "02416" "USH1C_000050" "g.17522638G>A" "" "{PMID:Roux 2011:21436283}" "none" "" "" "Germline" "" "rs10832796" "0" "" "" "g.17501091G>A" "" "benign" "" "0000374137" "10" "11" "11" "17522638" "17522638" "subst" "0.254495" "02419" "USH1C_000050" "g.17522638G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; UV1" "Germline" "" "rs10832796" "0" "" "" "g.17501091G>A" "" "benign" "" "0000374138" "20" "11" "11" "17522638" "17522638" "subst" "0.254495" "02419" "USH1C_000050" "g.17522638G>A" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "homozygous; UV1" "Germline" "" "rs10832796" "0" "" "" "g.17501091G>A" "" "benign" "" "0000374141" "10" "99" "11" "17547896" "17547896" "subst" "0" "02416" "USH1C_000051" "g.17547896G>T" "" "{PMID:Aparisi 2010:21203349}" "+AcuI;+HpyAV;-BbvI;-Fnu4HI;-BspMI;-ApeKI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17526349G>T" "" "likely benign" "ACMG" "0000374142" "20" "99" "11" "17547896" "17547896" "subst" "0" "02416" "USH1C_000051" "g.17547896G>T" "" "{PMID:Aparisi 2010:21203349}" "+AcuI;+HpyAV;-BbvI;-Fnu4HI;-BspMI;-ApeKI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17526349G>T" "" "pathogenic" "" "0000374143" "0" "15" "11" "17548310" "17548310" "subst" "4.06217E-6" "02416" "USH1C_000052" "g.17548310G>A" "" "{PMID:Aparisi 2010:21203349}; USMA-{USMAUSH1CS190L:} USMA-{MSV3dQ9Y6N9p.Ser190Leu:}" "-Hpy188I" "" "heterozygous; unknown effect" "Germline" "" "" "0" "" "" "g.17526763G>A" "" "pathogenic" "" "0000374144" "10" "99" "11" "17552719" "17552719" "del" "0" "02416" "USH1C_000053" "g.17552719del" "" "{PMID:Aparisi 2010:21203349}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17531172del" "" "benign" "" "0000374145" "20" "99" "11" "17552719" "17552719" "del" "0" "02416" "USH1C_000053" "g.17552719del" "" "{PMID:Aparisi 2010:21203349}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17531172del" "" "benign" "" "0000374146" "10" "15" "11" "17542553" "17542553" "subst" "0.0599545" "02416" "USH1C_000054" "g.17542553C>T" "" "{PMID:Aparisi 2010:21203349}" "+AlwI;+BstYI;+Sau3AI;+MboI;-BsmAI;-BsaI;" "" "homozygous; unknown effect" "Germline" "" "rs11024318" "0" "" "" "g.17521006C>T" "" "benign" "" "0000374147" "10" "15" "11" "17542553" "17542553" "subst" "0.0599545" "02416" "USH1C_000054" "g.17542553C>T" "" "{PMID:Aparisi 2010:21203349}" "+AlwI;+BstYI;+Sau3AI;+MboI;-BsmAI;-BsaI;" "" "homozygous; unknown effect" "Germline" "" "rs11024318" "0" "" "" "g.17521006C>T" "" "benign" "" "0000374148" "10" "15" "11" "17542553" "17542553" "subst" "0.0599545" "02416" "USH1C_000054" "g.17542553C>T" "" "{PMID:Aparisi 2010:21203349}" "+AlwI;+BstYI;+Sau3AI;+MboI;-BsmAI;-BsaI;" "" "homozygous; unknown effect" "Germline" "" "rs11024318" "0" "" "" "g.17521006C>T" "" "benign" "" "0000374149" "20" "15" "11" "17542553" "17542553" "subst" "0.0599545" "02416" "USH1C_000054" "g.17542553C>T" "" "{PMID:Aparisi 2010:21203349}" "+AlwI;+BstYI;+Sau3AI;+MboI;-BsmAI;-BsaI;" "" "homozygous; unknown effect" "Germline" "" "rs11024318" "0" "" "" "g.17521006C>T" "" "benign" "" "0000374150" "20" "15" "11" "17542553" "17542553" "subst" "0.0599545" "02416" "USH1C_000054" "g.17542553C>T" "" "{PMID:Aparisi 2010:21203349}" "+AlwI;+BstYI;+Sau3AI;+MboI;-BsmAI;-BsaI;" "" "homozygous; unknown effect" "Germline" "" "rs11024318" "0" "" "" "g.17521006C>T" "" "likely benign" "ACMG" "0000374151" "20" "15" "11" "17542553" "17542553" "subst" "0.0599545" "02416" "USH1C_000054" "g.17542553C>T" "" "{PMID:Aparisi 2010:21203349}" "+AlwI;+BstYI;+Sau3AI;+MboI;-BsmAI;-BsaI;" "" "homozygous; unknown effect" "Germline" "" "rs11024318" "0" "" "" "g.17521006C>T" "" "likely benign" "ACMG" "0000374152" "11" "15" "11" "17542491" "17542491" "subst" "0.000101515" "02416" "USH1C_000055" "g.17542491C>T" "" "{PMID:Aparisi 2010:21203349}; USMA-{USMAUSH1CG379D:} USMA-{MSV3dQ9Y6N9p.Gly379Asp:}" "+BsmFI;+MlyI;+PleI;-Bsp1286I;-BanII;-CviKI_1;" "" "heterozygous; unknown effect" "Germline" "" "" "0" "" "" "g.17520944C>T" "" "likely benign" "ACMG" "0000374153" "11" "15" "11" "17542491" "17542491" "subst" "0.000101515" "02416" "USH1C_000055" "g.17542491C>T" "" "{PMID:Aparisi 2010:21203349}; USMA-{USMAUSH1CG379D:} USMA-{MSV3dQ9Y6N9p.Gly379Asp:}" "+BsmFI;+MlyI;+PleI;-Bsp1286I;-BanII;-CviKI_1;" "" "heterozygous; unknown effect" "Germline" "" "" "0" "" "" "g.17520944C>T" "" "benign" "" "0000374154" "11" "15" "11" "17542491" "17542491" "subst" "0.000101515" "02416" "USH1C_000055" "g.17542491C>T" "" "{PMID:Aparisi 2010:21203349}; USMA-{USMAUSH1CG379D:} USMA-{MSV3dQ9Y6N9p.Gly379Asp:}" "+BsmFI;+MlyI;+PleI;-Bsp1286I;-BanII;-CviKI_1;" "" "heterozygous; unknown effect" "Germline" "" "" "0" "" "" "g.17520944C>T" "" "benign" "" "0000374157" "11" "99" "11" "17523083" "17523083" "subst" "4.13863E-6" "02419" "USH1C_000057" "g.17523083C>A" "0/866 controls" "{PMID:Saihan 2011:21487335}" "-Hpy166II;-BfaI;" "" "heterozygous; likely pathogenic" "Germline" "" "" "0" "" "" "g.17501536C>A" "" "benign" "" "0000374158" "11" "99" "11" "17523083" "17523083" "subst" "4.13863E-6" "02419" "USH1C_000057" "g.17523083C>A" "0/866 controls" "{PMID:Saihan 2011:21487335}" "-Hpy166II;-BfaI;" "" "heterozygous; likely pathogenic" "Germline" "" "" "0" "" "" "g.17501536C>A" "" "benign" "" "0000374159" "0" "11" "11" "17555022" "17555022" "subst" "0" "02419" "USH1C_000059" "g.17555022C>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MnlI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41274344" "0" "" "" "g.17533475C>A" "" "benign" "" "0000374160" "0" "11" "11" "17555022" "17555022" "subst" "0" "02419" "USH1C_000059" "g.17555022C>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MnlI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41274344" "0" "" "" "g.17533475C>A" "" "benign" "" "0000374161" "0" "11" "11" "17555022" "17555022" "subst" "0" "02419" "USH1C_000059" "g.17555022C>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MnlI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41274344" "0" "" "" "g.17533475C>A" "" "likely benign" "ACMG" "0000374162" "0" "11" "11" "17555022" "17555022" "subst" "0" "02419" "USH1C_000059" "g.17555022C>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-MnlI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs41274344" "0" "" "" "g.17533475C>A" "" "likely benign" "ACMG" "0000374163" "0" "15" "11" "17544865" "17544865" "subst" "0" "02419" "USH1C_000061" "g.17544865C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BfaI;-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.17523318C>T" "" "benign" "" "0000374164" "0" "15" "11" "17544865" "17544865" "subst" "0" "02419" "USH1C_000061" "g.17544865C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BfaI;-PspGI;-BssKI;-ScrFI;-StyD4I;-BstNI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.17523318C>T" "" "benign" "" "0000374165" "0" "11" "11" "17544873" "17544873" "subst" "0" "02419" "USH1C_000062" "g.17544873G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Bsp1286I;-BsiHKAI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs148317033" "0" "" "" "g.17523326G>A" "" "benign" "" "0000374166" "0" "11" "11" "17544873" "17544873" "subst" "0" "02419" "USH1C_000062" "g.17544873G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Bsp1286I;-BsiHKAI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs148317033" "0" "" "" "g.17523326G>A" "" "benign" "" "0000374167" "0" "11" "11" "17544873" "17544873" "subst" "0" "02419" "USH1C_000062" "g.17544873G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Bsp1286I;-BsiHKAI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs148317033" "0" "" "" "g.17523326G>A" "" "benign" "" "0000374168" "0" "11" "11" "17544873" "17544873" "subst" "0" "02419" "USH1C_000062" "g.17544873G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Bsp1286I;-BsiHKAI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs148317033" "0" "" "" "g.17523326G>A" "" "likely benign" "ACMG" "0000374169" "0" "11" "11" "17544873" "17544873" "subst" "0" "02419" "USH1C_000062" "g.17544873G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Bsp1286I;-BsiHKAI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs148317033" "0" "" "" "g.17523326G>A" "" "likely benign" "ACMG" "0000374170" "0" "15" "11" "17515698" "17515698" "subst" "0" "02419" "USH1C_000063" "g.17515698C>T" "1/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.17494151C>T" "" "benign" "" "0000374171" "0" "15" "11" "17543000" "17543000" "subst" "0.000576823" "02419" "USH1C_000064" "g.17543000G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs146119431" "0" "" "" "g.17521453G>A" "" "benign" "" "0000374172" "0" "11" "11" "17518401" "17518401" "subst" "0.0033034" "02419" "USH1C_000065" "g.17518401G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BtsCI;-FokI;-MmeI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.17496854G>A" "" "benign" "" "0000374173" "0" "11" "11" "17518401" "17518401" "subst" "0.0033034" "02419" "USH1C_000065" "g.17518401G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BtsCI;-FokI;-MmeI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.17496854G>A" "" "likely benign" "ACMG" "0000374174" "0" "11" "11" "17518401" "17518401" "subst" "0.0033034" "02419" "USH1C_000065" "g.17518401G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BtsCI;-FokI;-MmeI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.17496854G>A" "" "likely benign" "ACMG" "0000374175" "0" "15" "11" "17554980" "17554980" "subst" "0" "02419" "USH1C_000067" "g.17554980T>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+FauI;+AciI;-BpmI;-CviKI_1;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.17533433T>G" "" "likely benign" "ACMG" "0000374176" "0" "35" "11" "17532052" "17532052" "subst" "0.000280285" "02419" "USH1C_000068" "g.17532052C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAUSH1CR477Q:} USMA-{MSV3dQ9Y6N9p.Arg477Gln:}" "-BslI" "" "heterozygous; UV1" "Germline" "" "rs146333270" "0" "" "" "g.17510505C>T" "" "likely benign" "ACMG" "0000374177" "0" "15" "11" "17542554" "17542554" "subst" "0.000694512" "02419" "USH1C_000069" "g.17542554C>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BsaI" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.17521007C>A" "" "benign" "" "0000374178" "0" "15" "11" "17542554" "17542554" "subst" "0.000694512" "02419" "USH1C_000069" "g.17542554C>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-BsaI" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.17521007C>A" "" "benign" "" "0000374179" "0" "11" "11" "17544279" "17544279" "subst" "0" "02419" "USH1C_000070" "g.17544279C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs147022226" "0" "" "" "g.17522732C>T" "" "likely benign" "ACMG" "0000374180" "0" "11" "11" "17544279" "17544279" "subst" "0" "02419" "USH1C_000070" "g.17544279C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs147022226" "0" "" "" "g.17522732C>T" "" "likely benign" "ACMG" "0000374181" "0" "15" "11" "17554921" "17554921" "subst" "0" "02419" "USH1C_000071" "g.17554921T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs146780803" "0" "" "" "g.17533374T>C" "" "VUS" "ACMG" "0000374182" "0" "15" "11" "17542867" "17542867" "subst" "0.00224146" "02419" "USH1C_000072" "g.17542867G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.17521320G>A" "" "VUS" "ACMG" "0000374183" "10" "75" "11" "17548822" "17548824" "del" "0" "02419" "USH1C_000073" "g.17548822_17548824del" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-BseRI;-BslI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17527275_17527277del" "" "likely benign" "ACMG" "0000374184" "20" "75" "11" "17548822" "17548824" "del" "0" "02419" "USH1C_000073" "g.17548822_17548824del" "" "{PMID:Le Quesne Stabej 2012:22135276}" "-BseRI;-BslI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.17527275_17527277del" "" "likely benign" "ACMG" "0000374185" "10" "35" "11" "17544334" "17544334" "subst" "2.03608E-5" "02419" "USH1C_000075" "g.17544334C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAUSH1CR339Q:} USMA-{MSV3dQ9Y6N9p.Arg339Gln:}" "+ApeKI;+BbvI;+TseI;-BsrBI;-AciI;" "" "heterozygous; UV2" "Germline" "" "" "0" "" "" "g.17522787C>T" "" "likely benign" "ACMG" "0000374186" "0" "15" "11" "17544875" "17544875" "subst" "0" "02419" "USH1C_000076" "g.17544875G>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BfuCI;+DpnII;+DpnI;-MwoI;-Bsp1286I;-BsiHKAI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.17523328G>T" "" "pathogenic" "" "0000374187" "11" "15" "11" "17552764" "17552764" "subst" "0.000882035" "02419" "USH1C_000077" "g.17552764A>G" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "" "0" "" "" "g.17531217A>G" "" "pathogenic" "" "0000374188" "10" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374189" "10" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374190" "10" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374191" "10" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374192" "10" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374193" "10" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374194" "10" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374195" "10" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374196" "10" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374197" "10" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374198" "10" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374199" "10" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374200" "20" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374201" "20" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374202" "20" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374203" "20" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374204" "20" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374205" "20" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374206" "20" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374207" "20" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374208" "20" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374209" "20" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374210" "20" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "pathogenic" "" "0000374211" "20" "99" "11" "17537828" "17537828" "del" "0" "02416" "USH1C_000078" "g.17537828del" "1/238 controls" "{PMID:Khateb 2012:23251578}" "" "" "homozygous; located in an alternatively spliced exon; Pathogenic" "Germline" "" "" "0" "" "" "g.17516281del" "" "VUS" "ACMG" "0000374212" "0" "99" "11" "17552968" "17552968" "subst" "0" "02416" "USH1C_000079" "g.17552968G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "-BclI;-BfuCI;-DpnI;-DpnII;-MboI;-MspA1I;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531421G>A" "" "VUS" "ACMG" "0000374213" "0" "75" "11" "17552777" "17552777" "subst" "0" "02416" "USH1C_000080" "g.17552777C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAUSH1CG104D:} USMA-{MSV3dQ7RTU8p.Gly104Asp:}" "+BccI" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531230C>T" "" "likely benign" "ACMG" "0000374214" "0" "75" "11" "17552781" "17552781" "subst" "0.00107333" "02416" "USH1C_000081" "g.17552781G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAUSH1CR103C:} USMA-{MSV3dQ7RTU8p.Arg103Cys:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17531234G>A" "" "likely benign" "ACMG" "0000374215" "0" "15" "11" "17517235" "17517235" "subst" "0.411229" "02416" "USH1C_000082" "g.17517235A>G" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "" "heterozygous" "Germline" "" "rs10832795" "0" "" "" "g.17495688A>G" "" "likely benign" "ACMG" "0000374216" "0" "15" "11" "17517186" "17517186" "subst" "3.65461E-5" "02416" "USH1C_000083" "g.17517186G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAUSH1CP862L:} USMA-{MSV3dQ7RTU8p.Pro862Leu:}" "+BsrI;-AgeI;-BsaWI;-BsrFI;-HpaII;-MspI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17495639G>A" "" "likely benign" "ACMG" "0000374217" "0" "35" "11" "17554805" "17554805" "subst" "0.00156461" "02416" "USH1C_000084" "g.17554805T>C" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}; USMA-{USMAUSH1CH34R:} USMA-{MSV3dQ7RTU8p.His34Arg:}" "+AciI" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17533258T>C" "" "likely benign" "ACMG" "0000374218" "21" "35" "11" "17517160" "17517160" "subst" "0.00310645" "02416" "USH1C_000085" "g.17517160C>T" "0/100 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMAUSH1CA871T:} USMA-{MSV3dQ7RTU8p.Ala871Thr:}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "rs56165709" "0" "" "" "g.17495613C>T" "" "likely benign" "ACMG" "0000374219" "21" "35" "11" "17517160" "17517160" "subst" "0.00310645" "02416" "USH1C_000085" "g.17517160C>T" "" "{PMID:Ganapathy 2014:24416283}; USMA-{USMAUSH1CA871T:} USMA-{MSV3dQ7RTU8p.Ala871Thr:}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "rs56165709" "0" "" "" "g.17495613C>T" "" "VUS" "ACMG" "0000374220" "0" "35" "11" "17517160" "17517160" "subst" "0.00310645" "00143" "USH1C_000085" "g.17517160C>T" "" "{PMID:Krawitz 2014:25333064}; USMA-{USMAUSH1CA871T:} USMA-{MSV3dQ7RTU8p.Ala871Thr:}" "" "" "heterozygous; mutation" "Germline" "" "rs56165709" "0" "" "" "g.17495613C>T" "" "VUS" "ACMG" "0000374221" "11" "75" "11" "17553007" "17553007" "subst" "2.03155E-5" "02416" "USH1C_000086" "g.17553007G>A" "0/100 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMAUSH1CR63W:} USMA-{MSV3dQ7RTU8p.Arg63Trp:}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "rs375741564" "0" "" "" "g.17531460G>A" "" "VUS" "ACMG" "0000374222" "11" "75" "11" "17553007" "17553007" "subst" "2.03155E-5" "02416" "USH1C_000086" "g.17553007G>A" "0/100 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMAUSH1CR63W:} USMA-{MSV3dQ7RTU8p.Arg63Trp:}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "rs375741564" "0" "" "" "g.17531460G>A" "" "VUS" "ACMG" "0000374223" "21" "75" "11" "17552822" "17552822" "subst" "1.21978E-5" "02416" "USH1C_000087" "g.17552822C>T" "0/100 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMAUSH1CR89H:} USMA-{MSV3dQ7RTU8p.(Arg89His:}" "" "267G>A - p.(Arg89His)" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.17531275C>T" "" "VUS" "ACMG" "0000374224" "21" "75" "11" "17552822" "17552822" "subst" "1.21978E-5" "02416" "USH1C_000087" "g.17552822C>T" "0/100 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMAUSH1CR89H:} USMA-{MSV3dQ7RTU8p.(Arg89His:}" "" "267G>A - p.(Arg89His)" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.17531275C>T" "" "VUS" "ACMG" "0000374225" "11" "75" "11" "17531058" "17531058" "subst" "0.000580212" "02416" "USH1C_000088" "g.17531058G>A" "0/100 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMAUSH1CR620C:} USMA-{MSV3dQ7RTU8p.Arg620Cys:}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "rs143160805" "0" "" "" "g.17509511G>A" "" "likely benign" "ACMG" "0000374226" "11" "75" "11" "17531058" "17531058" "subst" "0.000580212" "02416" "USH1C_000088" "g.17531058G>A" "0/100 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMAUSH1CR620C:} USMA-{MSV3dQ7RTU8p.Arg620Cys:}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "rs143160805" "0" "" "" "g.17509511G>A" "" "likely benign" "ACMG" "0000374227" "21" "35" "11" "17547970" "17547970" "subst" "8.1322E-6" "02416" "USH1C_000089" "g.17547970C>T" "0/100 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMAUSH1CG200S:} USMA-{MSV3dQ7RTU8p.Gly200Ser:}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "" "0" "" "" "g.17526423C>T" "" "likely benign" "ACMG" "0000374228" "21" "35" "11" "17547970" "17547970" "subst" "8.1322E-6" "02416" "USH1C_000089" "g.17547970C>T" "0/100 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMAUSH1CG200S:} USMA-{MSV3dQ7RTU8p.Gly200Ser:}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "" "0" "" "" "g.17526423C>T" "" "likely benign" "ACMG" "0000374229" "21" "35" "11" "17519789" "17519789" "subst" "0.000312698" "02416" "USH1C_000090" "g.17519789C>T" "0/100 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMAUSH1CA804T:} USMA-{MSV3dQ7RTU8p.Ala804Thr:}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "rs150593932" "0" "" "" "g.17498242C>T" "" "VUS" "ACMG" "0000374230" "21" "35" "11" "17519789" "17519789" "subst" "0.000312698" "02416" "USH1C_000090" "g.17519789C>T" "0/100 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{USMAUSH1CA804T:} USMA-{MSV3dQ7RTU8p.Ala804Thr:}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "rs150593932" "0" "" "" "g.17498242C>T" "" "VUS" "ACMG" "0000374231" "21" "75" "11" "17548886" "17548886" "subst" "1.64508E-5" "02416" "USH1C_000091" "g.17548886A>T" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "" "0" "" "" "g.17527339A>T" "" "VUS" "ACMG" "0000374232" "21" "75" "11" "17548886" "17548886" "subst" "1.64508E-5" "02416" "USH1C_000091" "g.17548886A>T" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "" "0" "" "" "g.17527339A>T" "" "VUS" "ACMG" "0000374233" "10" "75" "11" "17544752" "17544752" "subst" "0" "02416" "USH1C_000092" "g.17544752A>G" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.17523205A>G" "" "likely benign" "ACMG" "0000374234" "20" "75" "11" "17544752" "17544752" "subst" "0" "02416" "USH1C_000092" "g.17544752A>G" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.17523205A>G" "" "benign" "" "0000374235" "0" "35" "11" "17519762" "17519762" "subst" "0" "02416" "USH1C_000093" "g.17519762A>C" "" "{PMID:Yoshimura 2014:24618850}; USMA-{USMAUSH1CY813D:} USMA-{MSV3dQ7RTU8p.Tyr813Asp:}" "" "" "heterozygous; possible pathogenic" "Germline" "" "" "0" "" "" "g.17498215A>C" "" "pathogenic" "" "0000374236" "0" "11" "11" "17538989" "17538989" "subst" "0.00839997" "02416" "USH1C_000094" "g.17538989C>T" "" "{PMID:Rong 2014:24831256}; USMA-{MSV3dQ9Y6N9p.Ala415Thr:}" "" "" "heterozygous; also NM_005709:c.1243G>A-p.(Ala415Thr); non causative" "Germline" "" "rs116996553" "0" "" "" "g.17517442C>T" "" "pathogenic" "" "0000374237" "10" "99" "11" "17544361" "17544362" "del" "0" "02416" "USH1C_000095" "g.17544361_17544362del" "" "{PMID:Qu 2014:25252889}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17522814_17522815del" "" "pathogenic" "" "0000374238" "10" "99" "11" "17544361" "17544362" "del" "0" "02416" "USH1C_000095" "g.17544361_17544362del" "" "{PMID:Qu 2014:25252889}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17522814_17522815del" "" "pathogenic" "" "0000374239" "20" "99" "11" "17544361" "17544362" "del" "0" "02416" "USH1C_000095" "g.17544361_17544362del" "" "{PMID:Qu 2014:25252889}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17522814_17522815del" "" "pathogenic" "" "0000374240" "20" "99" "11" "17544361" "17544362" "del" "0" "02416" "USH1C_000095" "g.17544361_17544362del" "" "{PMID:Qu 2014:25252889}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17522814_17522815del" "" "pathogenic" "" "0000374241" "10" "99" "11" "17547982" "17547982" "subst" "0" "02428" "USH1C_000096" "g.17547982G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17526435G>A" "" "pathogenic" "" "0000374242" "20" "99" "11" "17547982" "17547982" "subst" "0" "02428" "USH1C_000096" "g.17547982G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17526435G>A" "" "pathogenic" "" "0000374243" "2" "99" "11" "17554801" "17554801" "subst" "0" "02428" "USH1C_000097" "g.17554801C>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.17533254C>T" "" "pathogenic" "" "0000374244" "10" "99" "11" "17542482" "17542482" "dup" "0" "02428" "USH1C_000098" "g.17542482dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17520935dup" "" "pathogenic" "" "0000374245" "20" "99" "11" "17542482" "17542482" "dup" "0" "02428" "USH1C_000098" "g.17542482dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.17520935dup" "" "pathogenic" "" "0000374246" "10" "99" "11" "17548879" "17548879" "subst" "0" "02428" "USH1C_000099" "g.17548879C>G" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "rs55843567" "0" "" "" "g.17527332C>G" "" "VUS" "ACMG" "0000374247" "20" "99" "11" "17548879" "17548879" "subst" "0" "02428" "USH1C_000099" "g.17548879C>G" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "rs55843567" "0" "" "" "g.17527332C>G" "" "VUS" "ACMG" "0000374248" "2" "75" "11" "17565819" "17565819" "subst" "0" "02428" "USH1C_000100" "g.17565819C>T" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.17544272C>T" "" "pathogenic" "" "0000374249" "2" "75" "11" "17519712" "17519712" "subst" "0.000150376" "02428" "USH1C_000101" "g.17519712G>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; probably pathogenic" "Germline" "" "rs142801489" "0" "" "" "g.17498165G>A" "" "pathogenic" "" "0000374250" "10" "99" "11" "17545007" "17545007" "subst" "0" "02428" "USH1C_000102" "g.17545007C>A" "" "Abdi accepted in Plos One" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17523460C>A" "" "pathogenic" "" "0000374251" "10" "99" "11" "17545007" "17545007" "subst" "0" "02428" "USH1C_000102" "g.17545007C>A" "" "Abdi accepted in Plos One" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17523460C>A" "" "pathogenic" "" "0000374252" "20" "99" "11" "17545007" "17545007" "subst" "0" "02428" "USH1C_000102" "g.17545007C>A" "" "Abdi accepted in Plos One" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17523460C>A" "" "pathogenic" "" "0000374253" "20" "99" "11" "17545007" "17545007" "subst" "0" "02428" "USH1C_000102" "g.17545007C>A" "" "Abdi accepted in Plos One" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.17523460C>A" "" "pathogenic" "" "0000374254" "11" "99" "11" "17537811" "17537811" "del" "0" "02416" "USH1C_000103" "g.17537811del" "" "{PMID:Baux, Vaché 2017:29196752}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.17516264del" "" "pathogenic" "" "0000374255" "21" "99" "11" "17526193" "17532069" "del" "0" "02416" "USH1C_000104" "g.(17523528_17526193)_(17532069_17533448)del" "" "{PMID:Baux, Vaché 2017:29196752}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000543207" "0" "50" "11" "17515883" "17515883" "subst" "0.000140482" "02330" "USH1C_000165" "g.17515883C>A" "" "" "" "USH1C(NM_153676.3):c.2696G>T (p.R899L), USH1C(NM_153676.4):c.2696G>T (p.R899L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17494336C>A" "" "VUS" "" "0000543208" "0" "10" "11" "17517232" "17517232" "subst" "0.00179944" "01943" "USH1C_000170" "g.17517232T>C" "" "" "" "USH1C(NM_153676.3):c.2547-8A>G, USH1C(NM_153676.4):c.2547-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17495685T>C" "" "benign" "" "0000543209" "0" "50" "11" "17523040" "17523040" "subst" "3.27949E-5" "01943" "USH1C_000171" "g.17523040G>A" "" "" "" "USH1C(NM_153676.3):c.2269C>T (p.R757C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17501493G>A" "" "VUS" "" "0000543210" "0" "50" "11" "17523040" "17523040" "subst" "0" "02330" "USH1C_000172" "g.17523040G>T" "" "" "" "USH1C(NM_153676.4):c.2269C>A (p.R757S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17501493G>T" "" "VUS" "" "0000543211" "0" "10" "11" "17523513" "17523513" "subst" "8.13068E-6" "02330" "USH1C_000173" "g.17523513A>G" "" "" "" "USH1C(NM_153676.4):c.2199T>C (p.Y733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17501966A>G" "" "benign" "" "0000543212" "0" "10" "11" "17526182" "17526182" "subst" "0.000414196" "02330" "USH1C_000174" "g.17526182G>A" "" "" "" "USH1C(NM_153676.4):c.2184+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17504635G>A" "" "benign" "" "0000543213" "0" "10" "11" "17526184" "17526184" "subst" "0.000203042" "02330" "USH1C_000175" "g.17526184A>G" "" "" "" "USH1C(NM_153676.3):c.2184+10T>C, USH1C(NM_153676.4):c.2184+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17504637A>G" "" "benign" "" "0000543214" "0" "30" "11" "17526184" "17526184" "subst" "0.000203042" "01943" "USH1C_000175" "g.17526184A>G" "" "" "" "USH1C(NM_153676.3):c.2184+10T>C, USH1C(NM_153676.4):c.2184+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17504637A>G" "" "likely benign" "" "0000543215" "0" "50" "11" "17527497" "17527497" "subst" "0.000402243" "02330" "USH1C_000149" "g.17527497C>T" "" "" "" "USH1C(NM_153676.4):c.2014-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17505950C>T" "" "VUS" "" "0000543216" "0" "30" "11" "17531320" "17531320" "subst" "5.09541E-5" "02330" "USH1C_000126" "g.17531320G>A" "" "" "" "USH1C(NM_153676.3):c.1596C>T (p.F532=), USH1C(NM_153676.4):c.1596C>T (p.F532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17509773G>A" "" "likely benign" "" "0000543217" "0" "30" "11" "17531364" "17531364" "subst" "0" "01943" "USH1C_000176" "g.17531364G>T" "" "" "" "USH1C(NM_153676.3):c.1552C>A (p.P518T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17509817G>T" "" "likely benign" "" "0000543218" "0" "10" "11" "17533476" "17533476" "subst" "0.000146248" "02330" "USH1C_000177" "g.17533476C>T" "" "" "" "USH1C(NM_153676.4):c.1386G>A (p.Q462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17511929C>T" "" "benign" "" "0000543219" "0" "10" "11" "17538966" "17538966" "subst" "0.00122025" "01943" "USH1C_000178" "g.17538966C>T" "" "" "" "USH1C(NM_005709.3):c.1266G>A (p.T422=), USH1C(NM_005709.4):c.1266G>A (p.T422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17517419C>T" "" "benign" "" "0000543220" "0" "10" "11" "17542439" "17542439" "subst" "0.576163" "02325" "USH1C_000015" "g.17542439T>C" "" "" "" "USH1C(NM_153676.4):c.1188A>G (p.P396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17520892T>C" "" "benign" "" "0000543221" "0" "50" "11" "17542491" "17542491" "subst" "0.000101515" "02330" "USH1C_000055" "g.17542491C>T" "" "" "" "USH1C(NM_153676.3):c.1136G>A (p.G379D), USH1C(NM_153676.4):c.1136G>A (p.G379D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17520944C>T" "" "VUS" "" "0000543222" "0" "10" "11" "17544404" "17544404" "subst" "0.000882097" "01943" "USH1C_000131" "g.17544404C>G" "" "" "" "USH1C(NM_153676.3):c.946G>C (p.E316Q), USH1C(NM_153676.4):c.946G>C (p.E316Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17522857C>G" "" "benign" "" "0000543223" "0" "50" "11" "17544449" "17544449" "subst" "2.09895E-5" "01943" "USH1C_000179" "g.17544449G>A" "" "" "" "USH1C(NM_153676.3):c.901C>T (p.R301W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17522902G>A" "" "VUS" "" "0000543224" "0" "50" "11" "17544974" "17544974" "subst" "0" "01943" "USH1C_000180" "g.17544974G>A" "" "" "" "USH1C(NM_153676.3):c.811C>T (p.H271Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17523427G>A" "" "VUS" "" "0000543225" "0" "50" "11" "17545000" "17545000" "subst" "0" "02327" "USH1C_000181" "g.17545000T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17523453T>C" "" "VUS" "" "0000543226" "0" "10" "11" "17547890" "17547890" "subst" "0.000322055" "02330" "USH1C_000182" "g.17547890C>T" "" "" "" "USH1C(NM_153676.4):c.674+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17526343C>T" "" "benign" "" "0000543227" "0" "50" "11" "17548863" "17548863" "subst" "0.0023056" "01943" "USH1C_000137" "g.17548863C>T" "" "" "" "USH1C(NM_153676.3):c.403G>A (p.V135I), USH1C(NM_153676.4):c.403G>A (p.V135I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17527316C>T" "" "VUS" "" "0000543228" "0" "90" "11" "17552724" "17552724" "subst" "0" "02327" "USH1C_000183" "g.17552724G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17531177G>A" "" "pathogenic" "" "0000543229" "0" "90" "11" "17552961" "17552961" "dup" "0" "01943" "USH1C_000003" "g.17552961dup" "" "" "" "USH1C(NM_153676.3):c.238dupC (p.R80Pfs*69)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17531414dup" "" "pathogenic" "" "0000543230" "0" "50" "11" "17552969" "17552969" "subst" "8.13544E-6" "01943" "USH1C_000184" "g.17552969A>T" "" "" "" "USH1C(NM_153676.3):c.225T>A (p.D75E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17531422A>T" "" "VUS" "" "0000543231" "0" "10" "11" "17554805" "17554805" "subst" "0.00156461" "02330" "USH1C_000084" "g.17554805T>C" "" "" "" "USH1C(NM_153676.4):c.101A>G (p.H34R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17533258T>C" "" "benign" "" "0000543232" "0" "50" "11" "17554868" "17554868" "subst" "4.07608E-6" "01943" "USH1C_000185" "g.17554868A>G" "" "" "" "USH1C(NM_153676.3):c.38T>C (p.V13A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17533321A>G" "" "VUS" "" "0000613207" "0" "30" "11" "17527416" "17527416" "subst" "2.43685E-5" "01943" "USH1C_000186" "g.17527416G>T" "" "" "" "USH1C(NM_153676.3):c.2094C>A (p.P698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17505869G>T" "" "likely benign" "" "0000613208" "0" "30" "11" "17531094" "17531094" "subst" "3.40864E-5" "01943" "USH1C_000187" "g.17531094G>A" "" "" "" "USH1C(NM_153676.3):c.1822C>T (p.P608S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17509547G>A" "" "likely benign" "" "0000613209" "0" "30" "11" "17531361" "17531361" "subst" "2.6008E-5" "01943" "USH1C_000188" "g.17531361G>A" "" "" "" "USH1C(NM_153676.3):c.1555C>T (p.P519S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17509814G>A" "" "likely benign" "" "0000613210" "0" "50" "11" "17537819" "17537819" "subst" "6.1267E-5" "01943" "USH1C_000189" "g.17537819C>T" "" "" "" "USH1C(NM_153676.3):c.1229G>A (p.R410H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17516272C>T" "" "VUS" "" "0000622602" "0" "10" "11" "17545029" "17545029" "subst" "1.21869E-5" "02330" "USH1C_000190" "g.17545029G>A" "" "" "" "USH1C(NM_153676.4):c.760-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17523482G>A" "" "benign" "" "0000622603" "0" "30" "11" "17546025" "17546025" "subst" "0" "02330" "USH1C_000191" "g.17546025G>A" "" "" "" "USH1C(NM_153676.4):c.732C>T (p.G244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17524478G>A" "" "likely benign" "" "0000622604" "0" "90" "11" "17552978" "17552978" "subst" "3.65946E-5" "01943" "USH1C_000001" "g.17552978C>T" "" "" "" "USH1C(NM_153676.3):c.216G>A (p.V72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17531431C>T" "" "pathogenic" "" "0000622605" "0" "50" "11" "17553067" "17553067" "subst" "0.000109834" "01943" "USH1C_000192" "g.17553067C>T" "" "" "" "USH1C(NM_153676.3):c.127G>A (p.V43M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17531520C>T" "" "VUS" "" "0000647225" "3" "90" "11" "17552978" "17552978" "subst" "3.65946E-5" "00006" "USH1C_000001" "g.17552978C>T" "" "{PMID:Lentz 2005:15578223}" "" "" "analysis mini-gene splicing assay and cell lines" "Germline" "yes" "" "0" "" "" "g.17531431C>T" "" "pathogenic (recessive)" "" "0000648174" "1" "50" "11" "17531319" "17531319" "subst" "6.38113E-5" "03575" "USH1C_000193" "g.17531319C>T" "11/2665 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs201104489}" "Germline" "" "rs201104489" "0" "" "" "g.17509772C>T" "" "VUS" "" "0000656747" "0" "90" "11" "17552978" "17552978" "subst" "3.65946E-5" "02327" "USH1C_000001" "g.17552978C>T" "" "" "" "USH1C(NM_153676.3):c.216G>A (p.V72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17531431C>T" "" "pathogenic" "" "0000679117" "0" "30" "11" "17518331" "17518331" "subst" "2.84306E-5" "01943" "USH1C_000194" "g.17518331G>A" "" "" "" "USH1C(NM_153676.3):c.2520C>T (p.C840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684644" "3" "70" "11" "17552956" "17552956" "dup" "0.000261387" "00004" "USH1C_000003" "g.17552956dup" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.17531409dup" "" "likely pathogenic (recessive)" "" "0000685508" "0" "90" "11" "17539012" "17539012" "del" "0" "00004" "USH1C_000196" "g.17539012del" "13/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_005709.3:c.1220del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685509" "0" "90" "11" "17548589" "17548589" "del" "0" "00004" "USH1C_000029" "g.17548589del" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.497-2delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685510" "0" "90" "11" "17552956" "17552956" "dup" "0.000261387" "00004" "USH1C_000003" "g.17552956dup" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685701" "1" "50" "11" "17537814" "17537814" "subst" "3.26419E-5" "00004" "USH1C_000195" "g.17537814C>T" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.17516267C>T" "" "VUS" "" "0000691005" "0" "50" "11" "17519758" "17519758" "subst" "8.93423E-5" "01943" "USH1C_000197" "g.17519758G>T" "" "" "" "USH1C(NM_153676.3):c.2441C>A (p.T814N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691006" "0" "30" "11" "17539012" "17539012" "subst" "0.000323298" "01943" "USH1C_000128" "g.17539012C>T" "" "" "" "USH1C(NM_005709.3):c.1220G>A (p.G407E), USH1C(NM_005709.4):c.1220G>A (p.G407E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698055" "3" "90" "11" "17547940" "17547940" "subst" "8.12671E-6" "00006" "USH1C_000198" "g.17547940T>A" "" "{DOI:Kannan-Sundhari 2020:32991204}" "" "" "" "Germline" "" "" "0" "" "" "g.17526393T>A" "" "pathogenic (recessive)" "" "0000713332" "3" "90" "11" "17552956" "17552957" "ins" "0" "00000" "USH1C_000201" "g.17552956_17552957insG" "" "{PMID:Carss 2017:28041643}" "" "11:17552955C>CG ENST00000005226.7:c.238dupC (Arg80ProfsTer69)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713448" "3" "90" "11" "17545993" "17546009" "del" "0" "00000" "USH1C_000199" "g.17545993_17546009del" "" "{PMID:Carss 2017:28041643}" "" "11:17545992ACTCACCTCCAATCCCAC>A ENST00000005226.7:c.748_759+5delGTGGGATTGGAGGTGAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713678" "0" "90" "11" "17548826" "17548826" "subst" "1.62493E-5" "00000" "USH1C_000200" "g.17548826T>C" "" "{PMID:Carss 2017:28041643}" "" "11:17548826T>C ENST00000005226.7:c.440A>G (His147Arg)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713906" "0" "90" "11" "17552978" "17552978" "subst" "3.65946E-5" "00000" "USH1C_000001" "g.17552978C>T" "" "{PMID:Carss 2017:28041643}" "" "11:17552978C>T ENST00000005226.7:c.216G>A (?))" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000723334" "0" "30" "11" "17530898" "17530898" "subst" "7.23681E-5" "01943" "USH1C_000203" "g.17530898A>G" "" "" "" "USH1C(NM_153676.3):c.2013+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723335" "0" "50" "11" "17544463" "17544463" "subst" "4.22901E-6" "02330" "USH1C_000204" "g.17544463A>G" "" "" "" "USH1C(NM_153676.4):c.887T>C (p.L296P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730127" "1" "90" "11" "17548299" "17548299" "subst" "0" "00000" "USH1C_000205" "g.17548299C>G" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.17526752C>G" "" "pathogenic" "ACMG" "0000730128" "3" "70" "11" "17548832" "17548832" "subst" "0" "00000" "USH1C_000136" "g.17548832C>T" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.17527285C>T" "" "likely pathogenic" "ACMG" "0000730216" "1" "50" "11" "17548859" "17548859" "subst" "0.000122303" "00000" "USH1C_000207" "g.17548859C>T" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.17527312C>T" "" "VUS" "ACMG" "0000730217" "1" "50" "11" "17548802" "17548802" "subst" "8.12394E-6" "00000" "USH1C_000206" "g.17548802C>T" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.17527255C>T" "" "VUS" "ACMG" "0000730229" "2" "90" "11" "17548299" "17548358" "del" "0" "00000" "USH1C_000202" "g.(17547989_17548299)_(17548358_17548562)del" "" "{PMID:Sun 2018:29625443}" "" "c.522-?_579+?del" "" "Germline" "" "" "0" "" "" "g.(17526442_17526752)_(17526811_17527015)del" "" "pathogenic" "ACMG" "0000732479" "0" "50" "11" "0" "0" "" "0" "00000" "DRD4_000002" "g.?" "" "{PMID:Costa 2017:28912962}" "" "566G>A (Arg189Gln)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000733255" "3" "70" "11" "17552961" "17552961" "dup" "0" "00000" "USH1C_000003" "g.17552961dup" "" "{PMID:Stone 2017:28559085}" "" "232_233insC" "" "Germline" "" "" "0" "" "" "g.17531414dup" "" "likely pathogenic" "" "0000733256" "3" "70" "11" "17552978" "17552978" "subst" "3.65946E-5" "00000" "USH1C_000001" "g.17552978C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.17531431C>T" "" "likely pathogenic" "" "0000735193" "3" "30" "11" "17531146" "17531146" "subst" "0.0612027" "00000" "USH1C_000150" "g.17531146G>A" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}" "" "" "" "Germline" "" "rs17776775" "0" "" "" "g.17509599G>A" "" "likely benign" "" "0000736649" "3" "90" "11" "17542482" "17542482" "dup" "0" "00000" "USH1C_000098" "g.17542482dup" "" "{PMID:Dad 2016:27957503}" "" "1146dupA" "" "Germline" "" "" "0" "" "" "g.17520935dup" "" "pathogenic (recessive)" "" "0000736651" "1" "90" "11" "17554815" "17554815" "subst" "8.12929E-6" "00000" "USH1C_000031" "g.17554815G>A" "" "{PMID:Cremers 2007:16963483}" "" "91C>A" "" "Germline" "" "" "0" "" "" "g.17533268G>A" "" "pathogenic (recessive)" "" "0000736653" "3" "90" "11" "17552961" "17552961" "dup" "0" "00000" "USH1C_000003" "g.17552961dup" "" "{PMID:Janecke 1999:10094549}" "" "" "" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic (recessive)" "" "0000736751" "2" "90" "11" "17552961" "17552961" "dup" "0" "00000" "USH1C_000003" "g.17552961dup" "" "{PMID:Cremers 2007:16963483}" "" "" "" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic (recessive)" "" "0000759736" "3" "90" "11" "17565848" "17565848" "subst" "0" "00000" "USH1C_000208" "g.17565848G>A" "" "{PMID:Ben-Rebeh 2016:27440999}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17544301G>A" "" "pathogenic (recessive)" "" "0000760398" "0" "50" "11" "17542412" "17542412" "subst" "4.06058E-6" "00000" "USH1C_000209" "g.17542412C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.17520865C>T" "" "VUS" "" "0000760529" "0" "70" "11" "17548769" "17548769" "subst" "2.43833E-5" "00000" "USH1C_000033" "g.17548769C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.17527222C>T" "" "likely pathogenic" "" "0000763418" "1" "50" "11" "17523521" "17523521" "subst" "5.28821E-5" "02404" "USH1C_000210" "g.17523521G>A" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG" "0000763419" "2" "50" "11" "17547910" "17547910" "subst" "0" "02404" "USH1C_000211" "g.17547910G>C" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG" "0000765233" "3" "70" "11" "17548562" "17548562" "subst" "0" "00000" "USH1C_000214" "g.17548562C>T" "" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germline" "" "" "0" "" "" "g.17527015C>T" "" "likely pathogenic" "" "0000765234" "3" "90" "11" "17434212" "17553090" "del" "0" "00000" "USH1C_000212" "g.(17432201_17434212)_(17553090_17554801)del" "" "{PMID:Neuhaus 2017:28944237}" "" "del ex3-27" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000765235" "3" "90" "11" "0" "0" "" "0" "00000" "USH1C_000212" "g.(?_g.17436861)_(17546526_?)del" "" "{PMID:Neuhaus 2017:28944237}" "" "del ex3-27" "123kb deletion incl. ABCC8 and USH1C" "Germline" "" "" "0" "" "" "17439772_17546526del" "" "pathogenic" "" "0000765236" "3" "70" "11" "17542416" "17542416" "subst" "0" "00000" "USH1C_000213" "g.17542416C>G" "" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germline" "" "" "0" "" "" "g.17520869C>G" "" "likely pathogenic" "" "0000786469" "3" "90" "11" "17547979" "17547979" "del" "0" "00000" "USH1C_000215" "g.17547979del" "" "{PMID:Consugar 2015:25412400}" "" "590delG" "" "Germline" "yes" "" "0" "" "" "g.17526432del" "" "pathogenic (recessive)" "" "0000787672" "1" "70" "11" "17548803" "17548803" "subst" "8.12394E-6" "00000" "USH1C_000004" "g.17548803G>A" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17527256G>A" "" "likely pathogenic" "" "0000787719" "2" "70" "11" "17552777" "17552777" "subst" "0" "00000" "USH1C_000080" "g.17552777C>T" "" "0" "" "" "" "Germline" "yes" "" "0" "" "" "g.17531230C>T" "" "likely pathogenic" "" "0000788325" "0" "50" "11" "17531103" "17531103" "subst" "0" "00000" "USH1C_000216" "g.17531103T>G" "" "{PMID:Katagiri 2014:25268133}" "" "A1813C" "" "Germline" "" "" "0" "" "" "g.17509556T>G" "" "VUS" "" "0000788328" "0" "50" "11" "17531103" "17531103" "subst" "0" "00000" "USH1C_000216" "g.17531103T>G" "" "{PMID:Katagiri 2014:25268133}" "" "A1813C" "" "Germline" "" "" "0" "" "" "g.17509556T>G" "" "VUS" "" "0000788379" "0" "50" "11" "17531103" "17531103" "subst" "0" "00000" "USH1C_000216" "g.17531103T>G" "" "{PMID:Katagiri 2014:25268133}" "" "A1813C" "" "Germline" "" "" "0" "" "" "g.17509556T>G" "" "VUS" "" "0000788398" "0" "50" "11" "17531103" "17531103" "subst" "0" "00000" "USH1C_000216" "g.17531103T>G" "" "{PMID:Katagiri 2014:25268133}" "" "A1813C" "" "Germline" "" "" "0" "" "" "g.17509556T>G" "" "VUS" "" "0000788481" "0" "50" "11" "17531103" "17531103" "subst" "0" "00000" "USH1C_000216" "g.17531103T>G" "" "{PMID:Katagiri 2014:25268133}" "" "A1813C" "" "Germline" "" "" "0" "" "" "g.17509556T>G" "" "VUS" "" "0000793958" "1" "70" "11" "17531360" "17531360" "subst" "4.33712E-6" "00000" "USH1C_000218" "g.17531360G>A" "" "{PMID:O\'Sullivan-2012:22581970}" "" "c.[1556C>T]+[2630G>A]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793959" "2" "70" "11" "17517141" "17517141" "subst" "9.3398E-5" "00000" "USH1C_000217" "g.17517141C>T" "" "{PMID:O\'Sullivan-2012:22581970}" "" "c.[1556C>T]+[2630G>A]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000795687" "0" "50" "11" "17517186" "17517186" "subst" "3.65461E-5" "00000" "USH1C_000083" "g.17517186G>A" "" "{PMID:Ivanova 2018:30358468}" "" "c.C2585T; p.P862L" "" "Germline" "?" "rs749460267" "0" "" "" "g.17495639G>A" "" "benign" "" "0000796926" "0" "90" "11" "17547915" "17547915" "subst" "0" "00000" "USH1C_000163" "g.17547915C>A" "" "{PMID:Wang-2014:24154662}" "" "c.653G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796927" "0" "90" "11" "17544992" "17544992" "subst" "4.06095E-5" "00000" "USH1C_000162" "g.17544992C>T" "" "{PMID:Wang-2014:24154662}" "" "c.793G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797742" "0" "70" "11" "17527381" "17527381" "subst" "0" "00000" "USH1C_000219" "g.17527381A>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPF31 c.997del, p.(Glu333Serfs*5), USH1Cc.2014-1G>A, p.(?), c.2129T>C, p." "" "Germline" "?" "" "0" "" "" "g.17505834A>G" "" "likely pathogenic" "ACMG" "0000797744" "0" "70" "11" "17527497" "17527497" "subst" "0.000402243" "00000" "USH1C_000149" "g.17527497C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPF31 c.997del, p.(Glu333Serfs*5), USH1Cc.2014-1G>A, p.(?), c.2129T>C, p." "" "Germline" "?" "" "0" "" "" "g.17505950C>T" "" "likely pathogenic" "ACMG" "0000798097" "0" "90" "11" "17552961" "17552961" "dup" "0" "00000" "USH1C_000003" "g.17552961dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "USH1C c.238dup, p.(Arg80Profs*69)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.17531414dup" "" "pathogenic" "ACMG" "0000798098" "0" "90" "11" "17552961" "17552961" "dup" "0" "00000" "USH1C_000003" "g.17552961dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "USH1C c.238dup, p.(Arg80Profs*69)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.17531414dup" "" "pathogenic" "ACMG" "0000805036" "0" "70" "11" "17517225" "17517225" "subst" "2.03072E-5" "01943" "USH1C_000145" "g.17517225C>A" "" "" "" "USH1C(NM_153676.3):c.2547-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805037" "0" "50" "11" "17532066" "17532067" "ins" "4.062E-6" "01943" "USH1C_000220" "g.17532066_17532067insCCAGGGGGTCTCAG" "" "" "" "USH1C(NM_153676.3):c.1415_1416insCTGAGACCCCCTGG (p.S473*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805038" "0" "50" "11" "17532069" "17532070" "ins" "0" "01943" "USH1C_000221" "g.17532069_17532070insCAG" "" "" "" "USH1C(NM_153676.3):c.1414-2_1414-1insCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805039" "0" "50" "11" "17532070" "17532070" "subst" "0" "01943" "USH1C_000222" "g.17532070T>A" "" "" "" "USH1C(NM_153676.3):c.1414-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805040" "0" "50" "11" "17547981" "17547981" "subst" "0.000134356" "01943" "USH1C_000223" "g.17547981C>T" "" "" "" "USH1C(NM_153676.3):c.587G>A (p.R196Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805041" "0" "50" "11" "17565827" "17565827" "subst" "0" "02327" "USH1C_000224" "g.17565827G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805042" "0" "30" "11" "17569012" "17569012" "subst" "0" "01943" "USH1C_000225" "g.17569012C>T" "" "" "" "OTOG(NM_001277269.1):c.93C>T (p.L31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815426" "0" "50" "11" "17523521" "17523521" "subst" "5.28821E-5" "00000" "USH1C_000210" "g.17523521G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "USH1C:NM_153676 c.C2191T, p.R731W" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.17501974G>A" "" "VUS" "ACMG" "0000815613" "0" "50" "11" "17544770" "17544770" "subst" "3.24857E-5" "00000" "USH1C_000226" "g.17544770A>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "USH1C:NM_153676 c.T864G, p.I288M" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.17523223A>C" "" "VUS" "ACMG" "0000816295" "0" "50" "11" "17552961" "17552961" "dup" "0" "00000" "USH1C_000003" "g.17552961dup" "" "{PMID:Zampaglione 2020:32037395}" "" "USH1C c.238dup, p.Arg80ProfsTer69" "unsolved" "Unknown" "?" "" "0" "" "" "g.17531414dup" "" "VUS" "" "0000817274" "0" "50" "11" "17519713" "17519713" "subst" "4.06349E-6" "02416" "USH1C_000227" "g.17519713C>T" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "rs773119803" "0" "" "" "" "" "VUS" "ACMG" "0000819765" "1" "70" "11" "17548769" "17548769" "subst" "2.43833E-5" "00000" "USH1C_000005" "g.17548769C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "USH1C, variant 1: c.496+1G>T/p.?, variant 2: c.580-2A>T/p.?" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.17527222C>A" "" "likely pathogenic" "" "0000819873" "1" "70" "11" "17552825" "17552825" "del" "0" "00000" "USH1C_000229" "g.17552825del" "" "{PMID:Weisschuh 2020:32531858}" "" "USH1C, variant 1: c.263del/p.V88Gfs*13, variant 2: c.496+1G>T/p.?" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.17531278del" "" "likely pathogenic" "" "0000820064" "1" "70" "11" "17548769" "17548769" "subst" "2.43833E-5" "00000" "USH1C_000005" "g.17548769C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "USH1C, variant 1: c.469+1G>T/p.?, variant 2: c.841_848del/p.S281Pfs*18" "error in annotation, c.469+1G>T is not an intron boundary - should be c.496+1G>T, solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.17527222C>A" "" "likely pathogenic" "" "0000820714" "1" "70" "11" "17547990" "17547990" "subst" "0" "00000" "USH1C_000006" "g.17547990T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "USH1C, variant 1: c.496+1G>T/p.?, variant 2: c.580-2A>T/p.?" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.17526443T>A" "" "likely pathogenic" "" "0000820744" "1" "70" "11" "17548769" "17548769" "subst" "2.43833E-5" "00000" "USH1C_000005" "g.17548769C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "USH1C, variant 1: c.263del/p.V88Gfs*13, variant 2: c.496+1G>T/p.?" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.17527222C>A" "" "likely pathogenic" "" "0000820800" "1" "70" "11" "17544786" "17544793" "del" "0" "00000" "USH1C_000228" "g.17544786_17544793del" "" "{PMID:Weisschuh 2020:32531858}" "" "USH1C, variant 1: c.469+1G>T/p.?, variant 2: c.841_848del/p.S281Pfs*18" "error in annotation, protein change should be p.(Ser281Profs*28) and not p.(Ser281Profs*18), solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.17523239_17523246del" "" "likely pathogenic" "" "0000821406" "3" "90" "11" "17552961" "17552961" "dup" "0" "00000" "USH1C_000003" "g.17552961dup" "" "{PMID:Turro 2020:32581362}" "" "USH1C c.238dupC, p.Arg80ProfsTer69" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.17531414dup" "" "pathogenic" "" "0000821407" "3" "70" "11" "17545997" "17546013" "del" "0" "00000" "USH1C_000199" "g.17545997_17546013del" "" "{PMID:Turro 2020:32581362}" "" "USH1C c.748_759+5delGTGGGATTGGAGGTGAG," "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.17524450_17524466del" "" "likely pathogenic" "" "0000821408" "0" "70" "11" "17552978" "17552978" "subst" "3.65946E-5" "00000" "USH1C_000001" "g.17552978C>T" "" "{PMID:Turro 2020:32581362}" "" "USH1C c.216G>A, c.216G>A(p.%3D)" "heterozygous, probable splicing alteration" "Germline/De novo (untested)" "?" "" "0" "" "" "g.17531431C>T" "" "likely pathogenic" "" "0000821607" "0" "70" "11" "17548826" "17548826" "subst" "1.62493E-5" "00000" "USH1C_000200" "g.17548826T>C" "" "{PMID:Turro 2020:32581362}" "" "USH1C c.440A>G, p.His147Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.17527279T>C" "" "likely pathogenic" "" "0000826451" "0" "50" "11" "17537827" "17537827" "del" "0" "00000" "USH1C_000078" "g.17537827del" "" "{PMID:Khalaileh-2018:29490346}" "" "c.1220del" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000827483" "3" "90" "11" "17552715" "17552740" "del" "0" "00000" "USH1C_000230" "g.17552715_17552740del" "" "{PMID:Colombo-2020:33576794}" "" "c.348_373del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000828866" "0" "50" "11" "17544992" "17544992" "subst" "4.06095E-5" "00000" "USH1C_000162" "g.17544992C>T" "" "{PMID:Chen 2021:43360855}" "" "USH1C c.[793G>A];[?], V1: c.793G>A, (p.Asp265Asn)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.17523445C>T" "" "VUS" "ACMG" "0000829047" "0" "70" "11" "17552780" "17552780" "subst" "4.06504E-6" "00000" "USH1C_000007" "g.17552780C>T" "" "{PMID:Georgiou 2021:32795431}" "" "USH1C c.308G>A, p.Arg103His" "" "Unknown" "?" "" "0" "" "" "g.17531233C>T" "" "likely pathogenic" "" "0000829048" "0" "70" "11" "17552780" "17552780" "subst" "4.06504E-6" "00000" "USH1C_000007" "g.17552780C>T" "" "{PMID:Georgiou 2021:32795431}" "" "USH1C c.308G>A, p.Arg103His" "" "Unknown" "?" "" "0" "" "" "g.17531233C>T" "" "likely pathogenic" "" "0000829069" "0" "70" "11" "17523083" "17523083" "subst" "4.13863E-6" "00000" "USH1C_000057" "g.17523083C>A" "" "{PMID:Georgiou 2021:32795431}" "" "USH1C c.2227-1G>T, p.?" "" "Unknown" "?" "" "0" "" "" "g.17501536C>A" "" "likely pathogenic" "" "0000829070" "0" "70" "11" "17523083" "17523083" "subst" "4.13863E-6" "00000" "USH1C_000057" "g.17523083C>A" "" "{PMID:Georgiou 2021:32795431}" "" "USH1C c.2227-1G>T, p.?" "" "Unknown" "?" "" "0" "" "" "g.17501536C>A" "" "likely pathogenic" "" "0000829432" "0" "70" "11" "17513697" "17513697" "subst" "0" "00000" "USH1C_000231" "g.17513697G>A" "" "{PMID:SkorczykWerner-2020:33308271}" "" "c.4882C>T (p.Gln1628*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829433" "0" "70" "11" "17513697" "17513697" "subst" "0" "00000" "USH1C_000231" "g.17513697G>A" "" "{PMID:SkorczykWerner-2020:33308271}" "" "c.4882C>T (p.Gln1628*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829434" "0" "70" "11" "17513697" "17513697" "subst" "0" "00000" "USH1C_000231" "g.17513697G>A" "" "{PMID:SkorczykWerner-2020:33308271}" "" "c.4882C>T (p.Gln1628*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829447" "0" "70" "11" "17522676" "17522676" "subst" "4.07266E-6" "00000" "USH1C_000232" "g.17522676G>A" "" "{PMID:SkorczykWerner-2020:33308271}" "" "c.2302C>T (p.(Arg768Trp))" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829481" "3" "70" "11" "17552978" "17552978" "subst" "3.65946E-5" "00000" "USH1C_000001" "g.17552978C>T" "" "{PMID:Wafa-2021:33089500}" "" "c.216G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829542" "3" "70" "11" "17552978" "17552978" "subst" "3.65946E-5" "00000" "USH1C_000001" "g.17552978C>T" "" "{PMID:Wafa-2021:33089500}" "" "c.216G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829543" "3" "70" "11" "17552978" "17552978" "subst" "0" "00000" "USH1C_000233" "g.17552978T>C" "" "{PMID:Wafa-2021:33089500}" "" "c.216A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000852844" "0" "30" "11" "17518366" "17518366" "subst" "8.12565E-6" "01943" "USH1C_000235" "g.17518366G>A" "" "" "" "USH1C(NM_153676.3):c.2491-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852845" "0" "50" "11" "17531313" "17531313" "subst" "3.39556E-5" "01943" "USH1C_000236" "g.17531313C>T" "" "" "" "USH1C(NM_153676.3):c.1603G>A (p.G535R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862458" "0" "30" "11" "17518313" "17518313" "subst" "0.000166504" "01943" "USH1C_000234" "g.17518313G>A" "" "" "" "USH1C(NM_153676.3):c.2538C>T (p.D846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870187" "0" "90" "11" "17545007" "17545007" "subst" "0" "02416" "USH1C_000102" "g.17545007C>A" "" "Vaché et al., submitted" "" "" "" "Germline" "no" "" "0" "" "" "g.17523460C>A" "" "pathogenic (recessive)" "ACMG" "0000870189" "0" "99" "11" "17545007" "17545007" "subst" "0" "02416" "USH1C_000102" "g.17545007C>A" "" "Vaché et al., submitted" "" "" "" "Germline" "no" "" "0" "" "" "g.17523460C>A" "" "pathogenic (recessive)" "ACMG" "0000870191" "21" "99" "11" "17545007" "17545007" "subst" "0" "02416" "USH1C_000102" "g.17545007C>A" "" "Vaché et al., submitted" "" "" "" "Germline" "no" "" "0" "" "" "g.17523460C>A" "" "pathogenic (recessive)" "ACMG" "0000889733" "0" "70" "11" "17527469" "17527469" "subst" "2.03117E-5" "02327" "USH1C_000237" "g.17527469G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889734" "0" "10" "11" "17538966" "17538966" "subst" "0.00122025" "02330" "USH1C_000178" "g.17538966C>T" "" "" "" "USH1C(NM_005709.3):c.1266G>A (p.T422=), USH1C(NM_005709.4):c.1266G>A (p.T422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889735" "0" "90" "11" "17548589" "17548589" "del" "0" "02327" "USH1C_000029" "g.17548589del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896660" "0" "50" "11" "17544992" "17544992" "subst" "4.06095E-5" "00000" "USH1C_000162" "g.17544992C>T" "Taiwan Biobank: 0.000659; GnomAD_exome_East: 0.000544; GnomAD_All: 0.0000398" "{PMID:Chen 2021:33608557}" "" "USH1C c.[793G>A];[?]; p.(Asp265Asn)" "heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.17523445C>T" "" "VUS" "" "0000904847" "3" "70" "11" "17531966" "17531966" "subst" "0" "00006" "USH1C_000238" "g.17531966T>C" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "rs868001349" "0" "" "" "g.17510419T>C" "VCV000517517.4" "VUS" "" "0000933540" "0" "90" "11" "17508527" "17508527" "subst" "0" "04552" "USH1C_000239" "g.17508527T>G" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "{CV:1457389}" "pathogenic" "ACMG" "0000933541" "0" "90" "11" "17531353" "17531353" "dup" "0" "04552" "USH1C_000240" "g.17531353dup" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.17509806dup" "{CV:1451470}" "pathogenic" "ACMG" "0000944266" "3" "90" "11" "17552961" "17552961" "dup" "0" "00006" "USH1C_000003" "g.17552961dup" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.17531414dup" "" "pathogenic (recessive)" "" "0000944267" "3" "90" "11" "17548803" "17548803" "subst" "8.12394E-6" "00006" "USH1C_000004" "g.17548803G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.17527256G>A" "" "pathogenic (recessive)" "" "0000944521" "3" "90" "11" "17547966" "17547966" "dup" "0" "00006" "USH1C_000241" "g.17547966dup" "" "{PMID:Naz 2017:27573290}" "" "NM_005709.3:605dupC" "" "Germline" "" "" "0" "" "" "g.17526419dup" "" "pathogenic (recessive)" "" "0000949635" "0" "30" "11" "17553008" "17553008" "subst" "0.000268112" "02330" "USH1C_000242" "g.17553008A>G" "" "" "" "USH1C(NM_153676.4):c.186T>C (p.I62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958752" "0" "90" "11" "17548769" "17548769" "subst" "2.43833E-5" "00006" "USH1C_000005" "g.17548769C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.17527222C>A" "" "pathogenic (recessive)" "ACMG" "0000959203" "0" "90" "11" "17547990" "17547990" "subst" "0" "00006" "USH1C_000006" "g.17547990T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.17526443T>A" "813103" "pathogenic (recessive)" "ACMG" "0000966274" "0" "30" "11" "17517232" "17517232" "subst" "0.00179944" "02330" "USH1C_000170" "g.17517232T>C" "" "" "" "USH1C(NM_153676.3):c.2547-8A>G, USH1C(NM_153676.4):c.2547-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966278" "0" "30" "11" "17547994" "17547994" "subst" "8.171E-6" "02330" "USH1C_000243" "g.17547994A>G" "" "" "" "USH1C(NM_153676.4):c.580-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979492" "0" "50" "11" "17569716" "17569716" "subst" "0.000157516" "01804" "USH1C_000244" "g.17569716C>T" "" "" "" "OTOG(NM_001292063.2):c.173C>T (p.(Ala58Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998923" "0" "30" "11" "17538995" "17538995" "subst" "0" "01804" "USH1C_000245" "g.17538995C>T" "" "" "" "USH1C(NM_005709.3):c.1237G>A (p.(Glu413Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998924" "0" "50" "11" "17553073" "17553073" "subst" "2.44198E-5" "01804" "USH1C_000246" "g.17553073C>T" "" "" "" "USH1C(NM_153676.3):c.121G>A (p.(Val41Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025948" "0" "30" "11" "17544495" "17544495" "del" "0" "02330" "USH1C_000247" "g.17544495del" "" "" "" "USH1C(NM_153676.4):c.877-19delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038377" "0" "70" "11" "17548832" "17548832" "subst" "0" "02327" "USH1C_000136" "g.17548832C>T" "" "" "" "USH1C(NM_153676.3):c.434G>A (p.C145Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001053833" "0" "50" "11" "17544759" "17544759" "subst" "6.90344E-5" "01804" "USH1C_000248" "g.17544759G>C" "" "" "" "USH1C(NM_153676.4):c.875C>G (p.(Ala292Gly))" "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 USH1C ## Count = 614 "{{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}}" "{{VariantOnTranscript/Exon_old}}" "0000000271" "00000186" "50" "216" "0" "216" "0" "c.216G>T" "r.(=)" "p.(=)" "" "" "" "0000019545" "00000186" "75" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Asp265Asn)" "10" "" "" "0000019546" "00000186" "75" "653" "0" "653" "0" "c.653G>T" "r.(?)" "p.(Gly218Val)" "8" "" "" "0000130021" "00000186" "70" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "" "" "" "0000247015" "00000186" "10" "1774" "0" "1774" "0" "c.1774T>C" "r.(?)" "p.(Ser592Pro)" "" "" "" "0000247025" "00000186" "10" "2134" "-11" "2134" "-11" "c.2134-11del" "r.(=)" "p.(=)" "" "" "" "0000255027" "00000186" "30" "2124" "0" "2124" "0" "c.2124T>C" "r.(?)" "p.(Ser708=)" "" "" "" "0000311131" "00000186" "10" "105" "-4" "105" "-4" "c.105-4A>G" "r.spl?" "p.?" "" "" "" "0000311132" "00000186" "10" "1086" "-13" "1086" "-13" "c.1086-13G>T" "r.(=)" "p.(=)" "" "" "" "0000311133" "00000186" "10" "1211" "-1175" "1211" "-1175" "c.1211-1175G>A" "r.(=)" "p.(=)" "" "" "" "0000311134" "00000186" "10" "2070" "0" "2070" "0" "c.2070A>G" "r.(?)" "p.(Lys690=)" "" "" "" "0000311136" "00000186" "10" "2134" "-11" "2134" "-11" "c.2134-11dup" "r.(=)" "p.(=)" "" "" "" "0000311137" "00000186" "50" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81His)" "" "" "" "0000311138" "00000186" "10" "2488" "0" "2488" "0" "c.2488G>A" "r.(?)" "p.(Gly830Arg)" "" "" "" "0000311139" "00000186" "10" "2491" "-16" "2491" "-16" "c.2491-16C>T" "r.(=)" "p.(=)" "" "" "" "0000311140" "00000186" "10" "2499" "0" "2499" "0" "c.2499C>T" "r.(?)" "p.(Ile833=)" "" "" "" "0000311141" "00000186" "30" "2566" "0" "2566" "0" "c.2566G>A" "r.(?)" "p.(Val856Ile)" "" "" "" "0000311142" "00000186" "10" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Cys)" "" "" "" "0000311143" "00000186" "10" "381" "0" "381" "0" "c.381G>T" "r.(?)" "p.(Gly127=)" "" "" "" "0000311144" "00000186" "30" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Val135Ile)" "" "" "" "0000311145" "00000186" "10" "759" "20" "759" "20" "c.759+20C>T" "r.(=)" "p.(=)" "" "" "" "0000311146" "00000186" "10" "946" "0" "946" "0" "c.946G>C" "r.(?)" "p.(Glu316Gln)" "" "" "" "0000312955" "00000186" "10" "105" "-16" "105" "-16" "c.105-16C>T" "r.(=)" "p.(=)" "" "" "" "0000312956" "00000186" "10" "2457" "0" "2457" "0" "c.2457G>C" "r.(?)" "p.(Glu819Asp)" "" "" "" "0000312957" "00000186" "10" "2490" "12" "2490" "12" "c.2490+12G>C" "r.(=)" "p.(=)" "" "" "" "0000319340" "00000186" "50" "1136" "0" "1136" "0" "c.1136G>A" "r.(?)" "p.(Gly379Asp)" "" "" "" "0000319341" "00000186" "30" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(Asp38=)" "" "" "" "0000319342" "00000186" "50" "1255" "0" "1255" "0" "c.1255C>T" "r.(?)" "p.(Arg419Trp)" "" "" "" "0000319343" "00000186" "30" "1596" "0" "1596" "0" "c.1596C>T" "r.(?)" "p.(Phe532=)" "" "" "" "0000319344" "00000186" "30" "1632" "0" "1632" "0" "c.1632C>A" "r.(?)" "p.(Asp544Glu)" "" "" "" "0000319345" "00000186" "70" "1823" "0" "1823" "0" "c.1823C>G" "r.(?)" "p.(Pro608Arg)" "" "" "" "0000319346" "00000186" "70" "1858" "0" "1858" "0" "c.1858C>T" "r.(?)" "p.(Arg620Cys)" "" "" "" "0000319347" "00000186" "30" "1872" "0" "1872" "0" "c.1872G>A" "r.(?)" "p.(Ser624=)" "" "" "" "0000319348" "00000186" "50" "2185" "-3" "2185" "-3" "c.2185-3C>A" "r.spl?" "p.?" "" "" "" "0000319349" "00000186" "10" "2347" "0" "2347" "0" "c.2347G>T" "r.(?)" "p.(Ala783Ser)" "" "" "" "0000319351" "00000186" "50" "2515" "0" "2515" "0" "c.2515G>A" "r.(?)" "p.(Val839Ile)" "" "" "" "0000319352" "00000186" "30" "2611" "0" "2611" "0" "c.2611G>A" "r.(?)" "p.(Ala871Thr)" "" "" "" "0000319353" "00000186" "30" "2617" "0" "2617" "0" "c.2617G>A" "r.(?)" "p.(Val873Met)" "" "" "" "0000319354" "00000186" "30" "2696" "0" "2696" "0" "c.2696G>T" "r.(?)" "p.(Arg899Leu)" "" "" "" "0000319355" "00000186" "30" "381" "0" "381" "0" "c.381G>T" "r.(?)" "p.(Gly127=)" "" "" "" "0000319356" "00000186" "50" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Cys145Tyr)" "" "" "" "0000319357" "00000186" "30" "497" "-5" "497" "-5" "c.497-5C>T" "r.spl?" "p.?" "" "" "" "0000319358" "00000186" "30" "648" "0" "648" "0" "c.648G>A" "r.(?)" 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"5i" "" "5i" "0000374064" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374065" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374066" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374067" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374068" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374069" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374070" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374071" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374072" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374073" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374074" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374075" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374076" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374077" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374078" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374079" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374080" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374081" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374082" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374083" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374084" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374085" "00000186" "11" "497" "-79" "497" "-78" "c.497-79_497-78insGAGCAGGGGCAG" "r.(=)" "p.(=)" "5i" "" "5i" "0000374086" "00000186" "99" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31*)" "2" "" "2" "0000374087" "00000186" "99" "36" "1" "36" "1" "c.36+1G>T" "r.(?)" "p.(?)" "1i" "" "1i" "0000374088" "00000186" "99" "36" "1" "36" "1" "c.36+1G>T" "r.(?)" "p.(?)" "1i" "" "1i" "0000374089" "00000186" "99" "496" "1" "496" "1" "c.496+1G>A" "r.spl?" "p.?" "5i" "" "5i" "0000374090" "00000186" "99" "496" "1" "496" "1" "c.496+1G>A" "r.spl?" "p.?" "5i" "" "5i" "0000374091" "00000186" "99" "496" "1" "496" "1" "c.496+1G>A" "r.spl?" "p.?" "5i" "" "5i" "0000374092" "00000186" "99" "496" "1" "496" "1" "c.496+1G>A" "r.spl?" "p.?" "5i" "" "5i" "0000374093" "00000186" "99" "496" "1" "496" "1" "c.496+1G>A" "r.spl?" "p.?" "5i" "" "5i" "0000374094" "00000186" "99" "496" "1" "496" "1" "c.496+1G>A" "r.spl?" "p.?" "5i" "" "5i" "0000374095" "00000186" "99" "496" "1" "496" "1" "c.496+1G>A" "r.spl?" "p.?" "5i" "" "5i" "0000374096" "00000186" "99" "496" "1" "496" "1" "c.496+1G>A" "r.spl?" "p.?" "5i" "" "5i" "0000374097" "00000186" "99" "496" "1" "496" "1" "c.496+1G>A" "r.spl?" "p.?" "5i" "" "5i" "0000374098" "00000186" "99" "496" "1" "496" "1" "c.496+1G>A" "r.spl?" "p.?" "5i" "" "5i" "0000374099" "00000186" "99" "496" "1" "496" "1" "c.496+1G>A" "r.spl?" "p.?" "5i" "PDZ 1 (87-155);PDZ 2 (211-281);Coiled coil 1 (323-377);Coiled coil 2 (433-478);Proline rich (515-683);PDZ 3 (752-825)" "5i" "0000374100" "00000186" "99" "496" "1" "496" "1" "c.496+1G>A" "r.spl?" "p.?" "5i" "PDZ 1 (87-155);PDZ 2 (211-281);Coiled coil 1 (323-377);Coiled coil 2 (433-478);Proline rich (515-683);PDZ 3 (752-825)" "5i" "0000374101" "00000186" "99" "104" "580" "3137" "0" "c.104+580_*437del" "r.?" "p.?" "2i_27_" "PDZ 1 (87-155);PDZ 2 (211-281);Coiled coil 1 (323-377);Coiled coil 2 (433-478);Proline rich (515-683);PDZ 3 (752-825)" "2_21" "0000374102" "00000186" "99" "104" "580" "3137" "0" "c.104+580_*437del" "r.(?)" "p.(?)" "2i_27_" "PDZ 1 (87-155);PDZ 2 (211-281);Coiled coil 1 (323-377);Coiled coil 2 (433-478);Proline rich (515-683);PDZ 3 (752-825)" "2_21" "0000374103" "00000186" "99" "104" "580" "3137" "0" "c.104+580_*437del" "r.?" "p.?" "2i_27_" "PDZ 1 (87-155);PDZ 2 (211-281);Coiled coil 1 (323-377);Coiled coil 2 (433-478);Proline rich (515-683);PDZ 3 (752-825)" "2_21" "0000374107" "00000186" "15" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Val130Ile)" "5" "Proline rich (515-683)" "5" "0000374108" "00000186" "35" "1823" "0" "1823" "0" "c.1823C>G" "r.(?)" "p.(Pro608Arg)" "18" "" "D" "0000374109" "00000186" "35" "1823" "0" "1823" "0" "c.1823C>G" "r.(?)" "p.(Pro608Arg)" "18" "Proline rich (515-683)" "D" "0000374110" "00000186" "75" "1292" "0" "1292" "0" "c.1292G>T" "r.(?)" "p.(Gly431Val)" "16" "Proline rich (515-683)" "B" "0000374111" "00000186" "75" "1859" "0" "1859" "0" "c.1859G>T" "r.(?)" "p.(Arg620Leu)" "18" "Proline rich (515-683)" "D" "0000374112" "00000186" "75" "1859" "0" "1859" "0" "c.1859G>T" "r.(?)" "p.(Arg620Leu)" "18" "Proline rich (515-683)" "D" "0000374113" "00000186" "75" "1859" "0" "1859" "0" "c.1859G>T" "r.(?)" "p.(Arg620Leu)" "18" "Coiled coil 1 (323-377)" "D" "0000374114" "00000186" "75" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Arg636Cys)" "18" "Coiled coil 1 (323-377)" "D" "0000374115" "00000186" "99" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Gln362*)" "13" "Coiled coil 1 (323-377)" "13" "0000374116" "00000186" "99" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Gln362*)" "13" "Coiled coil 1 (323-377)" "13" "0000374117" "00000186" "99" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Gln362*)" "13" "Coiled coil 1 (323-377)" "13" "0000374118" "00000186" "99" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Gln362*)" "13" "" "13" "0000374119" "00000186" "99" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Gln362*)" "13" "" "13" "0000374120" "00000186" "15" "37" "-43" "37" "-42" "c.37-43_37-42dup" "r.(?)" "p.(?)" "1i" "" "1i" "0000374121" "00000186" "95" "1210" "6" "1210" "6" "c.1210+6T>G" "r.[1180_1210del, 1086_1210del]" "p.[Val394Leufs*32, Gln362Hisfs*21]" "14i" "" "14i" "0000374122" "00000186" "11" "2134" "-12" "2134" "-12" "c.2134-12T>C" "r.(=)" "p.(=)" "19i" "" "Ei" "0000374123" "00000186" "15" "2134" "-11" "2134" "-11" "c.2134-11del" "r.(=)" "p.(=)" "19i" "" "Ei" "0000374124" "00000186" "11" "105" "-16" "105" "-16" "c.105-16C>T" "r.(=)" "p.(=)" "2i" "" "2i" "0000374125" "00000186" "11" "105" "-16" "105" "-16" "c.105-16C>T" "r.(=)" "p.(=)" "2i" "" "2i" "0000374127" "00000186" "11" "522" "-45" "522" "-45" "c.522-45del" "r.(=)" "p.(=)" "6i" "" "6i" "0000374128" "00000186" "11" "580" "-27" "580" "-27" "c.580-27G>A" "r.(=)" "p.(=)" "7i" "" "7i" "0000374131" "00000186" "15" "674" "51" "674" "51" "c.674+51G>A" "r.(?)" "p.(?)" "8i" "" "8i" "0000374132" "00000186" "11" "579" "61" "579" "61" "c.579+61G>A" "r.(=)" "p.(=)" "7i" "" "7i" "0000374134" "00000186" "11" "579" "61" "579" "61" "c.579+61G>A" "r.(=)" "p.(=)" "7i" "PDZ 3 (752-825)" "7i" "0000374135" "00000186" "11" "2340" "0" "2340" "0" "c.2340C>T" "r.(?)" "p.(=)" "23" "PDZ 3 (752-825)" "D" "0000374137" "00000186" "11" "2340" "0" "2340" "0" "c.2340C>T" "r.(?)" "p.(=)" "23" "PDZ 3 (752-825)" "D" "0000374138" "00000186" "11" "2340" "0" "2340" "0" "c.2340C>T" "r.(?)" "p.(=)" "23" "PDZ 3 (752-825)" "D" "0000374141" "00000186" "99" "672" "0" "672" "0" "c.672C>A" "r.(?)" "p.(Cys224*)" "8" "" "8" "0000374142" "00000186" "99" "672" "0" "672" "0" "c.672C>A" "r.(?)" "p.(Cys224*)" "8" "PDZ 1 (87-155)" "8" "0000374143" "00000186" "15" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Ser190Leu)" "7" "PDZ 1 (87-155)" "7" "0000374144" "00000186" "99" "369" "0" "369" "0" "c.369del" "r.(?)" "p.(Asp124Thrfs*7)" "4" "" "4" "0000374145" "00000186" "99" "369" "0" "369" "0" "c.369del" "r.(?)" "p.(Asp124Thrfs*7)" "4" "" "4" "0000374146" "00000186" "15" "1086" "-12" "1086" "-12" "c.1086-12G>A" "r.(?)" "p.(?)" "13i" "" "13i" "0000374147" "00000186" "15" "1086" "-12" "1086" "-12" "c.1086-12G>A" "r.(?)" "p.(?)" "13i" "" "13i" "0000374148" "00000186" "15" "1086" "-12" "1086" "-12" "c.1086-12G>A" "r.(?)" "p.(?)" "13i" "" "13i" "0000374149" "00000186" "15" "1086" "-12" "1086" "-12" "c.1086-12G>A" "r.(?)" "p.(?)" "13i" "" "13i" "0000374150" "00000186" "15" "1086" "-12" "1086" "-12" "c.1086-12G>A" "r.(?)" "p.(?)" "13i" "" "13i" "0000374151" "00000186" "15" "1086" "-12" "1086" "-12" "c.1086-12G>A" "r.(?)" "p.(?)" "13i" "" "13i" "0000374152" "00000186" "15" "1136" "0" "1136" "0" "c.1136G>A" "r.(?)" "p.(Gly379Asp)" "14" "" "14" "0000374153" "00000186" "15" "1136" "0" "1136" "0" "c.1136G>A" "r.(?)" "p.(Gly379Asp)" "14" "3\'UTR" "14" "0000374154" "00000186" "15" "1136" "0" "1136" "0" "c.1136G>A" "r.(?)" "p.(Gly379Asp)" "14" "3\'UTR" "14" "0000374157" "00000186" "99" "2227" "-1" "2227" "-1" "c.2227-1G>T" "r.(?)" "p.(?)" "21i" "" "16i" "0000374158" "00000186" "99" "2227" "-1" "2227" "-1" "c.2227-1G>T" "r.(?)" "p.(?)" "21i" "" "16i" "0000374159" "00000186" "11" "37" "-153" "37" "-153" "c.37-153G>T" "r.(=)" "p.(=)" "1i" "" "1i" "0000374160" "00000186" "11" "37" "-153" "37" "-153" "c.37-153G>T" "r.(=)" "p.(=)" "1i" "" "1i" "0000374161" "00000186" "11" "37" "-153" "37" "-153" "c.37-153G>T" "r.(=)" "p.(=)" "1i" "" "1i" "0000374162" "00000186" "11" "37" "-153" "37" "-153" "c.37-153G>T" "r.(=)" "p.(=)" "1i" "" "1i" "0000374163" "00000186" "15" "820" "-51" "820" "-51" "c.820-51G>A" "r.(=)" "p.(=)" "10i" "" "11i" "0000374164" "00000186" "15" "820" "-51" "820" "-51" "c.820-51G>A" "r.(=)" "p.(=)" "10i" "" "11i" "0000374165" "00000186" "11" "820" "-59" "820" "-59" "c.820-59C>T" "r.(=)" "p.(=)" "10i" "" "11i" "0000374166" "00000186" "11" "820" "-59" "820" "-59" "c.820-59C>T" "r.(=)" "p.(=)" "10i" "" "11i" "0000374167" "00000186" "11" "820" "-59" "820" "-59" "c.820-59C>T" "r.(=)" "p.(=)" "10i" "" "11i" "0000374168" "00000186" "11" "820" "-59" "820" "-59" "c.820-59C>T" "r.(=)" "p.(=)" "10i" "3\'UTR" "11i" "0000374169" "00000186" "11" "820" "-59" "820" "-59" "c.820-59C>T" "r.(=)" "p.(=)" "10i" "" "11i" "0000374170" "00000186" "15" "2881" "0" "2881" "0" "c.*181G>A" "r.(=)" "p.(=)" "27" "" "21i" "0000374171" "00000186" "15" "1020" "-42" "1020" "-42" "c.1020-42C>T" "r.(=)" "p.(=)" "12i" "" "12i" "0000374172" "00000186" "11" "2491" "-41" "2491" "-41" "c.2491-41C>T" "r.(=)" "p.(=)" "24i" "" "19i" "0000374173" "00000186" "11" "2491" "-41" "2491" "-41" "c.2491-41C>T" "r.(=)" "p.(=)" "24i" "" "19i" "0000374174" "00000186" "11" "2491" "-41" "2491" "-41" "c.2491-41C>T" "r.(=)" "p.(=)" "24i" "Coiled coil 2 (433-478)" "19i" "0000374175" "00000186" "15" "37" "-111" "37" "-111" "c.37-111A>C" "r.(=)" "p.(=)" "1i" "" "1i" "0000374176" "00000186" "35" "1430" "0" "1430" "0" "c.1430G>A" "r.(?)" "p.(Arg477Gln)" "17" "" "D" "0000374177" "00000186" "15" "1086" "-13" "1086" "-13" "c.1086-13G>T" "r.(=)" "p.(=)" "13i" "" "13i" "0000374178" "00000186" "15" "1086" "-13" "1086" "-13" "c.1086-13G>T" "r.(=)" "p.(=)" "13i" "" "13i" "0000374179" "00000186" "11" "1019" "52" "1019" "52" "c.1019+52G>A" "r.(=)" "p.(=)" "12i" "" "12i" "0000374180" "00000186" "11" "1019" "52" "1019" "52" "c.1019+52G>A" "r.(=)" "p.(=)" "12i" "" "12i" "0000374181" "00000186" "15" "37" "-52" "37" "-52" "c.37-52A>G" "r.(=)" "p.(=)" "1i" "PDZ 1 (87-155)" "1i" "0000374182" "00000186" "15" "1085" "26" "1085" "26" "c.1085+26C>T" "r.(=)" "p.(=)" "13i" "PDZ 1 (87-155)" "13i" "0000374183" "00000186" "75" "446" "0" "448" "0" "c.446_448del" "r.(?)" "p.(Glu149del)" "5" "Coiled coil 1 (323-377)" "5" "0000374184" "00000186" "75" "446" "0" "448" "0" "c.446_448del" "r.(?)" "p.(Glu149del)" "5" "" "5" "0000374185" "00000186" "35" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339Gln)" "12" "PDZ 1 (87-155)" "12" "0000374186" "00000186" "15" "820" "-61" "820" "-61" "c.820-61C>A" "r.(=)" "p.(=)" "10i" "" "11i" "0000374187" "00000186" "15" "324" "0" "324" "0" "c.324T>C" "r.(?)" "p.(=)" "4" "" "4" "0000374188" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374189" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374190" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374191" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374192" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374193" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374194" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374195" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374196" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374197" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374198" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374199" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374200" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374201" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374202" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374203" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374204" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374205" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374206" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374207" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374208" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374209" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "" "15" "0000374210" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "N-domain (1-86)" "15" "0000374211" "00000186" "99" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407CysfsTer30)" "15" "PDZ 1 (87-155)" "15" "0000374212" "00000186" "99" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Gln76*)" "3" "PDZ 1 (87-155)" "3" "0000374213" "00000186" "75" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Gly104Asp)" "4" "" "4" "0000374214" "00000186" "75" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103Cys)" "4" "" "4" "0000374215" "00000186" "15" "2547" "-11" "2547" "-11" "c.2547-11T>C" "r.(=)" "p.(=)" "25i" "N-domain (1-86)" "20i" "0000374216" "00000186" "15" "2585" "0" "2585" "0" "c.2585C>T" "r.(?)" "p.(Pro862Leu)" "26" "" "G" "0000374217" "00000186" "35" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(His34Arg)" "2" "" "2" "0000374218" "00000186" "35" "2611" "0" "2611" "0" "c.2611G>A" "r.(=)" "p.(Ala871Thr)" "26" "" "G" "0000374219" "00000186" "35" "2611" "0" "2611" "0" "c.2611G>A" "r.(=)" "p.(Ala871Thr)" "26" "N-domain (1-86)" "G" "0000374220" "00000186" "35" "2611" "0" "2611" "0" "c.2611G>A" "r.(=)" "p.(Ala871Thr)" "26" "N-domain (1-86)" "G" "0000374221" "00000186" "75" "187" "0" "187" "0" "c.187C>T" "r.(=)" "p.(Arg63Trp)" "3" "PDZ 1 (87-155)" "3" "0000374222" "00000186" "75" "187" "0" "187" "0" "c.187C>T" "r.(=)" "p.(Arg63Trp)" "3" "PDZ 1 (87-155)" "3" "0000374223" "00000186" "75" "266" "0" "266" "0" "c.266G>A" "r.(=)" "p.(Arg89His)" "4" "Proline rich (515-683)" "4" "0000374224" "00000186" "75" "266" "0" "266" "0" "c.266G>A" "r.(=)" "p.(Arg89His)" "4" "Proline rich (515-683)" "4" "0000374225" "00000186" "75" "1858" "0" "1858" "0" "c.1858C>T" "r.(=)" "p.(Arg620Cys)" "18" "" "E" "0000374226" "00000186" "75" "1858" "0" "1858" "0" "c.1858C>T" "r.(=)" "p.(Arg620Cys)" "18" "" "E" "0000374227" "00000186" "35" "598" "0" "598" "0" "c.598G>A" "r.(=)" "p.(Gly200Ser)" "8" "" "8" "0000374228" "00000186" "35" "598" "0" "598" "0" "c.598G>A" "r.(=)" "p.(Gly200Ser)" "8" "" "8" "0000374229" "00000186" "35" "2410" "0" "2410" "0" "c.2410G>A" "r.(=)" "p.(Ala804Thr)" "24" "" "20" "0000374230" "00000186" "35" "2410" "0" "2410" "0" "c.2410G>A" "r.(=)" "p.(Ala804Thr)" "24" "" "20" "0000374231" "00000186" "75" "388" "-8" "388" "-8" "c.388-8T>A" "r.(=)" "p.(=)" "4i" "" "4i" "0000374232" "00000186" "75" "388" "-8" "388" "-8" "c.388-8T>A" "r.(=)" "p.(=)" "4i" "" "4i" "0000374233" "00000186" "75" "876" "6" "876" "6" "c.876+6T>C" "r.(=)" "p.(=)" "11i" "PDZ 3 (752-825)" "11i" "0000374234" "00000186" "75" "876" "6" "876" "6" "c.876+6T>C" "r.(=)" "p.(=)" "11i" "" "11i" "0000374235" "00000186" "35" "2437" "0" "2437" "0" "c.2437T>G" "r.(?)" "p.(Tyr813Asp)" "24" "Coiled coil 1 (323-377)" "19" "0000374236" "00000186" "11" "1211" "-1152" "1211" "-1152" "c.1211-1152G>A" "r.(=)" "p.(=)" "14i" "Coiled coil 1 (323-377)" "14i" "0000374237" "00000186" "99" "988" "0" "989" "0" "c.988_989del" "r.(?)" "p.(Ile330Profs*24)" "12" "Coiled coil 1 (323-377)" "12" "0000374238" "00000186" "99" "988" "0" "989" "0" "c.988_989del" "r.(?)" "p.(Ile330Profs*24)" "12" "Coiled coil 1 (323-377)" "12" "0000374239" "00000186" "99" "988" "0" "989" "0" "c.988_989del" "r.(?)" "p.(Ile330Profs*24)" "12" "" "12" "0000374240" "00000186" "99" "988" "0" "989" "0" "c.988_989del" "r.(?)" "p.(Ile330Profs*24)" "12" "" "12" "0000374241" "00000186" "99" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "8" "" "8" "0000374242" "00000186" "99" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "8" "" "8" "0000374243" "00000186" "99" "104" "1" "104" "1" "c.104+1G>A" "r.(?)" "p.(?)" "2i" "" "2i" "0000374244" "00000186" "99" "1146" "0" "1146" "0" "c.1146dup" "r.(?)" "p.(Gln383Thrfs*6)" "14" "" "14" "0000374245" "00000186" "99" "1146" "0" "1146" "0" "c.1146dup" "r.(?)" "p.(Gln383Thrfs*6)" "14" "" "14" "0000374246" "00000186" "99" "388" "-1" "388" "-1" "c.388-1G>C" "r.(?)" "p.(?)" "4i" "N-domain (1-86)" "4i" "0000374247" "00000186" "99" "388" "-1" "388" "-1" "c.388-1G>C" "r.(?)" "p.(?)" "4i" "" "4i" "0000374248" "00000186" "75" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(=)" "1" "PDZ 2 (211-281)" "1" "0000374249" "00000186" "75" "2487" "0" "2487" "0" "c.2487C>T" "r.(?)" "p.(=)" "24" "PDZ 2 (211-281)" "19" "0000374250" "00000186" "99" "778" "0" "778" "0" "c.778G>T" "r.(?)" "p.(Glu260*)" "10" "PDZ 2 (211-281)" "10" "0000374251" "00000186" "99" "778" "0" "778" "0" "c.778G>T" "r.(?)" "p.(Glu260*)" "10" "PDZ 2 (211-281)" "10" "0000374252" "00000186" "99" "778" "0" "778" "0" "c.778G>T" "r.(?)" "p.(Glu260*)" "10" "" "10" "0000374253" "00000186" "99" "778" "0" "778" "0" "c.778G>T" "r.(?)" "p.(Glu260*)" "10" "Coiled coil 2 (433-478);Proline rich (515-683)" "10" "0000374254" "00000186" "99" "1238" "0" "1238" "0" "c.1238del" "r.(?)" "p.(Gly413Alafs*24)" "15" "" "A" "0000374255" "00000186" "99" "1414" "-1" "2184" "1" "c.(1413+1_1414-1)_(2184+1_2185-1)del" "r.?" "p.(Val472_Gln728del)" "17_20" "" "C_F" "0000543207" "00000186" "50" "2696" "0" "2696" "0" "c.2696G>T" "r.(?)" "p.(Arg899Leu)" "" "" "" "0000543208" "00000186" "10" "2547" "-8" "2547" "-8" "c.2547-8A>G" "r.(=)" "p.(=)" "" "" "" "0000543209" "00000186" "50" "2269" "0" "2269" "0" "c.2269C>T" "r.(?)" "p.(Arg757Cys)" "" "" "" "0000543210" "00000186" "50" "2269" "0" "2269" "0" "c.2269C>A" "r.(?)" "p.(Arg757Ser)" "" "" "" "0000543211" "00000186" "10" "2199" "0" "2199" "0" "c.2199T>C" "r.(?)" "p.(Tyr733=)" "" "" "" "0000543212" "00000186" "10" "2184" "12" "2184" "12" "c.2184+12C>T" "r.(=)" "p.(=)" "" "" "" "0000543213" "00000186" "10" "2184" "10" "2184" "10" "c.2184+10T>C" "r.(=)" "p.(=)" "" "" "" "0000543214" "00000186" "30" "2184" "10" "2184" "10" "c.2184+10T>C" "r.(=)" "p.(=)" "" "" "" "0000543215" "00000186" "50" "2014" "-1" "2014" "-1" "c.2014-1G>A" "r.spl?" "p.?" "" "" "" "0000543216" "00000186" "30" "1596" "0" "1596" "0" "c.1596C>T" "r.(?)" "p.(Phe532=)" "" "" "" "0000543217" "00000186" "30" "1552" "0" "1552" "0" "c.1552C>A" "r.(?)" "p.(Pro518Thr)" "" "" "" "0000543218" "00000186" "10" "1386" "0" "1386" "0" "c.1386G>A" "r.(?)" "p.(Gln462=)" "" "" "" "0000543219" "00000186" "10" "1211" "-1129" "1211" "-1129" "c.1211-1129G>A" "r.(=)" "p.(=)" "" "" "" "0000543220" "00000186" "10" "1188" "0" "1188" "0" "c.1188A>G" "r.(?)" "p.(Pro396=)" "" "" "" "0000543221" "00000186" "50" "1136" "0" "1136" "0" "c.1136G>A" "r.(?)" "p.(Gly379Asp)" "" "" "" "0000543222" "00000186" "10" "946" "0" "946" "0" "c.946G>C" "r.(?)" "p.(Glu316Gln)" "" "" "" "0000543223" "00000186" "50" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301Trp)" "" "" "" "0000543224" "00000186" "50" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(His271Tyr)" "" "" "" "0000543225" "00000186" "50" "785" "0" "785" "0" "c.785A>G" "r.(?)" "p.(Asn262Ser)" "" "" "" "0000543226" "00000186" "10" "674" "4" "674" "4" "c.674+4G>A" "r.spl?" "p.?" "" "" "" "0000543227" "00000186" "50" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Val135Ile)" "" "" "" "0000543228" "00000186" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Gln122Ter)" "" "" "" "0000543229" "00000186" "90" "238" "0" "238" "0" "c.238dup" "r.(?)" "p.(Arg80ProfsTer69)" "" "" "" "0000543230" "00000186" "50" "225" "0" "225" "0" "c.225T>A" "r.(?)" "p.(Asp75Glu)" "" "" "" "0000543231" "00000186" "10" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(His34Arg)" "" "" "" "0000543232" "00000186" "50" "38" "0" "38" "0" "c.38T>C" "r.(?)" "p.(Val13Ala)" "" "" "" "0000613207" "00000186" "30" "2094" "0" "2094" "0" "c.2094C>A" "r.(?)" "p.(Pro698=)" "" "" "" "0000613208" "00000186" "30" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Pro608Ser)" "" "" "" "0000613209" "00000186" "30" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Pro519Ser)" "" "" "" "0000613210" "00000186" "50" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Arg410His)" "" "" "" "0000622602" "00000186" "10" "760" "-4" "760" "-4" "c.760-4C>T" "r.spl?" "p.?" "" "" "" "0000622603" "00000186" "30" "732" "0" "732" "0" "c.732C>T" "r.(?)" "p.(Gly244=)" "" "" "" "0000622604" "00000186" "90" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Val72=)" "" "" "" "0000622605" "00000186" "50" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Val43Met)" "" "" "" "0000647225" "00000186" "90" "216" "0" "216" "0" "c.216G>A" "r.214_248del" "p.Val72Glufs*65" "3" "" "" "0000648174" "00000186" "50" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Ala533Thr)" "" "" "" "0000656747" "00000186" "90" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Val72=)" "" "" "" "0000679117" "00000186" "30" "2520" "0" "2520" "0" "c.2520C>T" "r.(?)" "p.(Cys840=)" "" "" "" "0000684644" "00000186" "70" "238" "0" "238" "0" "c.238dup" "r.(?)" "p.(Arg80Profs*69)" "" "" "" "0000685508" "00000186" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly407Glufs*58)" "" "" "" "0000685509" "00000186" "90" "497" "-2" "497" "-2" "c.497-2delA" "r.spl" "p.?" "" "" "" "0000685510" "00000186" "90" "238" "0" "238" "0" "c.238dup" "r.(?)" "p.(Arg80Profs*69)" "" "" "" "0000685701" "00000186" "50" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Asp412Asn)" "" "" "" "0000691005" "00000186" "50" "2441" "0" "2441" "0" "c.2441C>A" "r.(?)" "p.(Thr814Asn)" "" "" "" "0000691006" "00000186" "30" "1211" "-1175" "1211" "-1175" "c.1211-1175G>A" "r.(=)" "p.(=)" "" "" "" "0000698055" "00000186" "90" "628" "0" "628" "0" "c.628A>T" "r.(?)" "p.(Lys210*)" "8" "" "" "0000713332" "00000186" "90" "237" "0" "238" "0" "c.237_238insC" "r.(?)" "p.(Arg80Profs*69)" "" "" "" "0000713448" "00000186" "90" "748" "0" "759" "5" "c.748_759+5del" "r.spl?" "p.?" "" "" "" "0000713678" "00000186" "90" "440" "0" "440" "0" "c.440A>G" "r.(?)" "p.(His147Arg)" "" "" "" "0000713906" "00000186" "90" "216" "0" "216" "0" "c.216G>A" "r.(=)" "p.(=)" "" "" "" "0000723334" "00000186" "30" "2013" "5" "2013" "5" "c.2013+5T>C" "r.spl?" "p.?" "" "" "" "0000723335" "00000186" "50" "887" "0" "887" "0" "c.887T>C" "r.(?)" "p.(Leu296Pro)" "" "" "" "0000730127" "00000186" "90" "579" "1" "579" "1" "c.579+1G>C" "r.spl" "p.?" "" "" "" "0000730128" "00000186" "70" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Cys145Tyr)" "" "" "" "0000730216" "00000186" "50" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136Gln)" "" "" "" "0000730217" "00000186" "50" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155Gln)" "" "" "" "0000730229" "00000186" "90" "522" "-1" "579" "1" "c.(521+1_522-1)_(579+1_580-1)del" "r.?" "p.?" "" "" "" "0000732479" "00000186" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "" "0000733255" "00000186" "70" "238" "0" "238" "0" "c.238dup" "r.(?)" "p.(Arg80Profs*69)" "" "" "" "0000733256" "00000186" "70" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Val72=)" "" "" "" "0000735193" "00000186" "30" "1770" "0" "1770" "0" "c.1770C>T" "r.(?)" "p.(Ala590=)" "" "" "" "0000736649" "00000186" "90" "1146" "0" "1146" "0" "c.1146dup" "r.(?)" "p.(Gln383Thrfs*6)" "14" "" "" "0000736651" "00000186" "90" "91" "0" "91" "0" "c.91C>A" "r.(?)" "p.(Arg31*)" "2" "" "" "0000736653" "00000186" "90" "238" "0" "238" "0" "c.238dup" "r.(?)" "p.(Arg80Profs*69)" "3" "" "" "0000736751" "00000186" "90" "238" "0" "238" "0" "c.238dup" "r.(?)" "p.(Arg80Profs*69)" "3" "" "" "0000759736" "00000186" "90" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "" "" "0000760398" "00000186" "50" "1210" "5" "1210" "5" "c.1210+5G>A" "r.spl" "p.?" "" "" "" "0000760529" "00000186" "70" "496" "1" "496" "1" "c.496+1G>A" "r.spl" "p.?" "" "" "" "0000763418" "00000186" "50" "2191" "0" "2191" "0" "c.2191C>T" "r.(?)" "p.(Arg731Trp)" "21" "" "" "0000763419" "00000186" "50" "658" "0" "658" "0" "c.658C>G" "r.(?)" "p.(Arg220Gly)" "8" "" "" "0000765233" "00000186" "70" "521" "1" "521" "1" "c.521+1G>A" "r.spl" "p.?" "" "" "" "0000765234" "00000186" "90" "0" "0" "0" "0" "c.(104+1_105-1)_*437{0}" "r.?" "p.?" "2i_27_" "" "" "0000765235" "00000186" "90" "0" "0" "0" "0" "c.(104+1_105-1)_*437{0}" "r.?" "p.?" "2i_27_" "" "" "0000765236" "00000186" "70" "1210" "1" "1210" "1" "c.1210+1G>C" "r.spl" "p.?" "" "" "" "0000786469" "00000186" "90" "590" "0" "590" "0" "c.590del" "r.(?)" "p.(Gly197AlafsTer21)" "" "" "" "0000787672" "00000186" "70" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Ter)" "" "" "" "0000787719" "00000186" "70" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Gly104Asp)" "" "" "" "0000788325" "00000186" "50" "1813" "0" "1813" "0" "c.1813A>C" "r.(?)" "p.(Ile605Leu)" "18" "" "" "0000788328" "00000186" "50" "1813" "0" "1813" "0" "c.1813A>C" "r.(?)" "p.(Ile605Leu)" "18" "" "" "0000788379" "00000186" "50" "1813" "0" "1813" "0" "c.1813A>C" "r.(?)" "p.(Ile605Leu)" "18" "" "" "0000788398" "00000186" "50" "1813" "0" "1813" "0" "c.1813A>C" "r.(?)" "p.(Ile605Leu)" "18" "" "" "0000788481" "00000186" "50" "1813" "0" "1813" "0" "c.1813A>C" "r.(?)" "p.(Ile605Leu)" "18" "" "" "0000793958" "00000186" "70" "1556" "0" "1556" "0" "c.1556C>T" "r.(?)" "p.(Pro519Leu)" "18" "" "" "0000793959" "00000186" "70" "2630" "0" "2630" "0" "c.2630G>A" "r.(?)" "p.(Gly877Glu)" "26" "" "" "0000795687" "00000186" "50" "2585" "0" "2585" "0" "c.2585C>T" "r.(?)" "p.(Pro862Leu)" "26" "" "" "0000796926" "00000186" "90" "653" "0" "653" "0" "c.653G>T" "r.(?)" "p.(Gly218Val)" "8" "" "" "0000796927" "00000186" "90" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Asp265Asn)" "10" "" "" "0000797742" "00000186" "70" "2129" "0" "2129" "0" "c.2129T>C" "r.(?)" "p.(Val710Ala)" "" "" "" "0000797744" "00000186" "70" "2014" "-1" "2014" "-1" "c.2014-1G>A" "r.spl" "p.(?)" "" "" "" "0000798097" "00000186" "90" "238" "0" "238" "0" "c.238dup" "r.(?)" "p.(Arg80Profs*69)" "" "" "" "0000798098" "00000186" "90" "238" "0" "238" "0" "c.238dup" "r.(?)" "p.(Arg80Profs*69)" "" "" "" "0000805036" "00000186" "70" "2547" "-1" "2547" "-1" "c.2547-1G>T" "r.spl?" "p.?" "" "" "" "0000805037" "00000186" "50" "1415" "0" "1416" "0" "c.1415_1416insCTGAGACCCCCTGG" "r.(?)" "p.(Ser473*)" "" "" "" "0000805038" "00000186" "50" "1414" "-2" "1414" "-1" "c.1414-2_1414-1insCTG" "r.spl?" "p.?" "" "" "" "0000805039" "00000186" "50" "1414" "-2" "1414" "-2" "c.1414-2A>T" "r.spl?" "p.?" "" "" "" "0000805040" "00000186" "50" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196Gln)" "" "" "" "0000805041" "00000186" "50" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Arg10Trp)" "" "" "" "0000805042" "00000186" "30" "-3158" "0" "-3158" "0" "c.-3158G>A" "r.(?)" "p.(=)" "" "" "" "0000815426" "00000186" "50" "2191" "0" "2191" "0" "c.2191C>T" "r.(?)" "p.(Arg731Trp)" "" "" "" "0000815613" "00000186" "50" "864" "0" "864" "0" "c.864T>G" "r.(?)" "p.(Ile288Met)" "" "" "" "0000816295" "00000186" "50" "238" "0" "238" "0" "c.238dup" "r.(?)" "p.(Arg80Profs*69)" "" "" "" "0000817274" "00000186" "50" "2486" "0" "2486" "0" "c.2486G>A" "r.(?)" "p.(Gly829Asp)" "" "" "" "0000819765" "00000186" "70" "496" "1" "496" "1" "c.496+1G>T" "r.spl" "p.(?)" "" "" "" "0000819873" "00000186" "70" "263" "0" "263" "0" "c.263del" "r.(?)" "p.(Val88Glyfs*13)" "" "" "" "0000820064" "00000186" "70" "496" "1" "496" "1" "c.496+1G>T" "r.spl" "p.(?)" "" "" "" "0000820714" "00000186" "70" "580" "-2" "580" "-2" "c.580-2A>T" "r.spl" "p.(?)" "" "" "" "0000820744" "00000186" "70" "496" "1" "496" "1" "c.496+1G>T" "r.spl" "p.(?)" "" "" "" "0000820800" "00000186" "70" "841" "0" "848" "0" "c.841_848del" "r.(?)" "p.(Ser281Profs*28)" "" "" "" "0000821406" "00000186" "90" "238" "0" "238" "0" "c.238dup" "r.(?)" "p.(Arg80Profs*69)" "" "" "" "0000821407" "00000186" "70" "748" "0" "759" "5" "c.748_759+5del" "r.spl?" "p.(?)" "" "" "" "0000821408" "00000186" "70" "216" "0" "216" "0" "c.216G>A" "r.spl?" "p.(Val72=)" "" "" "" "0000821607" "00000186" "70" "440" "0" "440" "0" "c.440A>G" "r.(?)" "p.(His147Arg)" "" "" "" "0000826451" "00000186" "50" "1221" "0" "1221" "0" "c.1221del" "r.(?)" "p.(Trp407Cysfs*30)" "15" "" "" "0000827483" "00000186" "90" "348" "0" "373" "0" "c.348_373del" "r.(?)" "p.(His116Glnfs*24)" "4" "" "" "0000828866" "00000186" "50" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Asp265Asn)" "" "" "" "0000829047" "00000186" "70" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "" "" "" "0000829048" "00000186" "70" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "" "" "" "0000829069" "00000186" "70" "2227" "-1" "2227" "-1" "c.2227-1G>T" "r.spl" "p.(?)" "" "" "" "0000829070" "00000186" "70" "2227" "-1" "2227" "-1" "c.2227-1G>T" "r.spl" "p.(?)" "" "" "" "0000829432" "00000186" "70" "4882" "0" "4882" "0" "c.4882C>T" "r.(=)" "p.(=)" "27" "" "" "0000829433" "00000186" "70" "4882" "0" "4882" "0" "c.4882C>T" "r.(=)" "p.(=)" "27" "" "" "0000829434" "00000186" "70" "4882" "0" "4882" "0" "c.4882C>T" "r.(=)" "p.(=)" "27" "" "" "0000829447" "00000186" "70" "2302" "0" "2302" "0" "c.2302C>T" "r.(=)" "p.(=)" "23" "" "" "0000829481" "00000186" "70" "216" "0" "216" "0" "c.216G>A" "r.(=)" "p.(=)" "3" "" "" "0000829542" "00000186" "70" "216" "0" "216" "0" "c.216G>A" "r.(=)" "p.(=)" "3" "" "" "0000829543" "00000186" "70" "216" "0" "216" "0" "c.216A>G" "r.(?)" "p.?" "3" "" "" "0000852844" "00000186" "30" "2491" "-6" "2491" "-6" "c.2491-6C>T" "r.(=)" "p.(=)" "" "" "" "0000852845" "00000186" "50" "1603" "0" "1603" "0" "c.1603G>A" "r.(?)" "p.(Gly535Arg)" "" "" "" "0000862458" "00000186" "30" "2538" "0" "2538" "0" "c.2538C>T" "r.(?)" "p.(Asp846=)" "" "" "" "0000870187" "00000186" "90" "778" "0" "778" "0" "c.778G>T" "r.(?)" "p.(Glu260*)" "10" "" "" "0000870189" "00000186" "99" "778" "0" "778" "0" "c.778G>T" "r.(?)" "p.(Glu260*)" "10" "" "" "0000870191" "00000186" "99" "778" "0" "778" "0" "c.778G>T" "r.(?)" "p.(Glu260*)" "10" "" "" "0000889733" "00000186" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "" "" "" "0000889734" "00000186" "10" "1211" "-1129" "1211" "-1129" "c.1211-1129G>A" "r.(=)" "p.(=)" "" "" "" "0000889735" "00000186" "90" "497" "-2" "497" "-2" "c.497-2del" "r.spl?" "p.?" "" "" "" "0000896660" "00000186" "50" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Asp265Asn)" "" "" "" "0000904847" "00000186" "70" "1516" "0" "1516" "0" "c.1516A>G" "r.(?)" "p.(Asn506Asp)" "" "" "" "0000933540" "00000186" "90" "10054" "-2" "10054" "-2" "c.10054-2A>C" "r.(=)" "p.(=)" "" "" "" "0000933541" "00000186" "90" "1563" "0" "1563" "0" "c.1563dup" "r.(?)" "p.(Val522Cysfs*21)" "" "" "" "0000944266" "00000186" "90" "238" "0" "238" "0" "c.238dup" "r.(?)" "p.(Arg80ProfsTer69)" "" "" "" "0000944267" "00000186" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Ter)" "" "" "" "0000944521" "00000186" "90" "605" "0" "605" "0" "c.605dup" "r.(?)" "p.(Gly203TrpfsTer47)" "" "" "" "0000949635" "00000186" "30" "186" "0" "186" "0" "c.186T>C" "r.(?)" "p.(=)" "" "" "" "0000958752" "00000186" "90" "496" "1" "496" "1" "c.496+1G>T" "r.spl" "p.?" "" "" "" "0000959203" "00000186" "90" "580" "-2" "580" "-2" "c.580-2A>T" "r.spl" "p.?" "" "" "" "0000966274" "00000186" "30" "2547" "-8" "2547" "-8" "c.2547-8A>G" "r.(=)" "p.(=)" "" "" "" "0000966278" "00000186" "30" "580" "-6" "580" "-6" "c.580-6T>C" "r.(=)" "p.(=)" "" "" "" "0000979492" "00000186" "50" "-3862" "0" "-3862" "0" "c.-3862G>A" "r.(?)" "p.(=)" "" "" "" "0000998923" "00000186" "30" "1211" "-1158" "1211" "-1158" "c.1211-1158G>A" "r.(=)" "p.(=)" "" "" "" "0000998924" "00000186" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Val41Met)" "" "" "" "0001025948" "00000186" "30" "877" "-19" "877" "-19" "c.877-19del" "r.(=)" "p.(=)" "" "" "" "0001038377" "00000186" "70" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Cys145Tyr)" "" "" "" "0001053833" "00000186" "50" "875" "0" "875" "0" "c.875C>G" "r.(?)" "p.(Ala292Gly)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 497 "{{screeningid}}" "{{variantid}}" "0000000096" "0000000271" "0000001629" "0000019545" "0000001629" "0000019546" "0000080935" "0000130021" "0000100502" "0000735193" "0000145015" "0000788325" "0000145016" "0000788328" "0000156426" "0000358348" "0000166801" "0000373852" "0000166801" "0000373859" "0000166802" "0000373876" "0000166802" "0000373908" "0000166803" "0000373853" "0000166803" "0000373937" "0000166804" "0000373860" "0000166804" "0000373909" "0000166805" "0000373854" "0000166805" "0000373861" "0000166806" "0000373855" "0000166806" "0000373941" "0000166807" "0000373856" "0000166807" "0000373942" "0000166808" "0000373857" "0000166808" "0000373862" "0000166809" "0000373858" "0000166809" "0000373863" "0000166810" "0000373946" "0000166810" "0000373948" "0000166810" "0000373954" "0000166810" "0000373970" "0000166810" "0000373973" "0000166810" "0000373975" "0000166810" "0000373977" "0000166810" "0000373978" "0000166810" "0000373985" "0000166810" "0000373986" "0000166810" "0000373989" "0000166810" "0000373994" "0000166810" "0000373995" "0000166810" "0000374001" "0000166810" "0000374002" "0000166810" "0000374005" "0000166810" "0000374006" "0000166810" "0000374012" "0000166810" "0000374014" "0000166811" "0000373906" "0000166811" "0000373907" "0000166811" "0000373961" "0000166811" "0000373962" "0000166811" "0000373981" "0000166811" "0000373982" "0000166811" "0000374007" "0000166811" "0000374008" "0000166811" "0000374015" "0000166811" "0000374016" "0000166811" "0000374018" "0000166811" "0000374019" "0000166811" "0000374020" "0000166811" "0000374021" "0000166811" "0000374022" "0000166811" "0000374023" "0000166811" "0000374024" "0000166811" "0000374025" "0000166811" "0000374027" "0000166811" "0000374028" "0000166811" "0000374029" "0000166811" "0000374030" "0000166811" "0000374031" "0000166811" "0000374032" "0000166811" "0000374033" "0000166811" "0000374034" "0000166812" "0000373933" "0000166812" "0000373935" "0000166813" "0000374036" "0000166813" "0000374047" "0000166814" "0000374037" "0000166814" "0000374048" "0000166815" "0000374038" "0000166815" "0000374049" "0000166816" "0000374039" "0000166816" "0000374050" "0000166817" "0000374040" "0000166817" "0000374051" "0000166818" "0000374041" "0000166818" "0000374052" "0000166819" "0000374042" "0000166819" "0000374053" "0000166820" "0000374043" "0000166820" "0000374054" "0000166821" "0000373877" "0000166821" "0000373885" "0000166822" "0000373878" "0000166822" "0000373886" "0000166823" "0000373879" "0000166823" "0000373887" "0000166824" "0000373832" "0000166824" "0000373833" "0000166824" "0000374064" "0000166824" "0000374074" "0000166825" "0000373834" "0000166825" "0000373835" "0000166825" "0000374065" "0000166825" "0000374075" "0000166826" "0000373836" "0000166826" "0000373837" "0000166826" "0000374066" "0000166826" "0000374076" "0000166827" "0000373838" "0000166827" "0000373839" "0000166827" "0000374067" "0000166827" "0000374077" "0000166828" "0000373840" "0000166828" "0000373841" "0000166828" "0000374068" "0000166828" "0000374078" "0000166829" "0000373842" "0000166829" "0000373843" "0000166829" "0000374069" "0000166829" "0000374079" "0000166830" "0000373844" "0000166830" "0000373845" "0000166830" "0000374070" "0000166830" "0000374080" "0000166831" "0000374071" "0000166831" "0000374081" "0000166832" "0000373846" "0000166832" "0000373847" "0000166832" "0000374072" "0000166832" "0000374082" "0000166833" "0000374073" "0000166833" "0000374083" "0000166834" "0000373848" "0000166834" "0000373880" "0000166834" "0000374084" "0000166835" "0000373881" "0000166836" "0000373882" "0000166837" "0000373883" "0000166838" "0000373884" "0000166839" "0000373894" "0000166839" "0000373897" "0000166840" "0000373851" "0000166840" "0000373895" "0000166840" "0000374085" "0000166841" "0000373898" "0000166841" "0000374086" "0000166842" "0000373899" "0000166842" "0000374087" "0000166843" "0000373900" "0000166843" 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