### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = USH1G) # 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}}" "USH1G" "Usher syndrome 1G (autosomal recessive)" "17" "q25.1" "unknown" "NG_007882.2" "UD_132085446299" "{PMID:Roux 2011:21436283}" "https://www.LOVD.nl/USH1G" "KMeyeDB \r\nUSMA (Usher Syndrome Missense Analysis) \r\nDeafness Variation Database \r\nMoBiDiC " "1" "16356" "124590" "607696" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the USH1G database using: www.LOVD.nl/USH1G
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" "https://databases.lovd.nl/shared/refseq/USH1G_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00001" "2010-03-02 00:00:00" "00110" "2018-07-20 15:02:45" "00000" "2024-04-19 20:27:30" ## 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}}" "00022438" "USH1G" "Usher syndrome 1G (autosomal recessive)" "001" "NM_173477.2" "" "NP_775748.2" "" "" "" "-183" "3378" "1386" "72919351" "72912176" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "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" "02617" "USH1G" "Usher syndrome, type 1G (USH-1G)" "AR" "606943" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "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" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "USH1G" "02115" "USH1G" "02617" "USH1G" "05415" ## Individuals ## Do not remove or alter this header ## ## Count = 90 "{{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}}" "00163126" "" "" "" "1" "" "02428" "{PMID:Bonnet et al., 2016:27460420}" "" "M" "" "Italy" "" "0" "" "" "" "" "00163127" "" "" "" "1" "" "02416" "{PMID:Yoshimura et al., 2014:24618850}" "proband" "" "" "Japan" "" "0" "" "" "" "" "00163128" "" "" "" "1" "" "02416" "{PMID:Bonnet et al., 2011:21569298}" "proband" "" "" "" "" "0" "" "" "" "" "00163130" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163131" "" "" "" "1" "" "02416" "{PMID:Bonnet et al., 2011:21569298}" "proband" "" "" "" "" "0" "" "" "" "" "00163132" "" "" "" "1" "" "02416" "{PMID:Ouyang et al., 2005:15660226}" "proband" "" "" "United States" "" "0" "" "" "" "" "00163133" "" "" "" "1" "" "02416" "{PMID:Ouyang et al., 2005:15660226}" "proband" "" "" "United States" "" "0" "" "" "" "" "00163134" "" "" "" "1" "" "02416" "{PMID:Bonnet et al., 2011:21569298}" "proband" "" "" "" "" "0" "" "" "" "" "00163135" "" "" "" "1" "" "02416" "{PMID:Bujakowska et al., 2014:25468891}" "proband" "M" "" "United States" "" "0" "" "" "" "" "00163136" "" "" "" "1" "" "02416" "{PMID:Bujakowska et al., 2014:25468891}" "relative" "M" "" "United States" "" "0" "" "" "" "" "00163137" "" "" "" "1" "" "02416" "{PMID:Bujakowska et al., 2014:25468891}" "relative" "F" "" "United States" "" "0" "" "" "" "" "00163138" "" "" "" "1" "" "02428" "{PMID:Bonnet et al., 2016:27460420}" "" "M" "" "France" "" "0" "" "" "" "" "00163139" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "proband" "M" "" "Germany" "" "0" "" "" "" "" "00163140" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "relative" "M" "" "Germany" "" "0" "" "" "" "" "00163141" "" "" "" "1" "" "00143" "{PMID:Krawitz et al., 2014:25333064}" "proband" "F" "" "Germany" "" "0" "" "" "" "" "00163142" "" "" "" "1" "" "02416" "{PMID:Bashir et al., 2010:21044053}" "proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00163143" "" "" "" "1" "" "02416" "{PMID:Bashir et al., 2010:21044053}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163144" "" "" "" "1" "" "02416" "{PMID:Bashir et al., 2010:21044053}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163145" "" "" "" "1" "" "02416" "{PMID:Bashir et al., 2010:21044053}" "relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00163146" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163147" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163148" "" "" "" "1" "" "02416" "{PMID:Rizel et al., 2012:22219650}" "proband" "M" "" "Israel" "" "0" "" "" "" "" "00163149" "" "" "" "1" "" "02416" "{PMID:Oonk et al., 2014:25255398}" "relative" "F" "" "Netherlands" "" "0" "" "" "" "" "00163150" "" "" "" "1" "" "02428" "{PMID:Bonnet et al., 2016:27460420}" "" "M" "" "Germany" "" "0" "" "" "" "" "00163151" "" "" "" "1" "" "02417" "{PMID:Jaijo et al., 2010:19683999}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163152" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163153" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "relative" "F" "" "Tunisia" "" "0" "" "" "" "" "00163154" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "relative" "F" "" "Tunisia" "" "0" "" "" "" "" "00163155" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "relative" "F" "" "Tunisia" "" "0" "" "" "" "" "00163156" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "relative" "M" "" "Tunisia" "" "0" "" "" "" "" "00163157" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "relative" "F" "" "Tunisia" "" "0" "" "" "" "" "00163158" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "proband" "M" "" "Tunisia" "" "0" "" "" "" "" "00163159" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "relative" "F" "" "Tunisia" "" "0" "" "" "" "" "00163160" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "relative" "M" "" "Tunisia" "" "0" "" "" "" "" "00163161" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163162" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163163" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163164" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163165" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163167" "" "" "" "1" "" "02416" "{PMID:Imtiaz et al., 2012:22876113}" "proband" "F" "" "Saudi Arabia" "" "0" "" "" "" "" "00163168" "" "" "" "1" "" "02416" "{PMID:Imtiaz et al., 2012:22876113}" "relative" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00163169" "" "" "" "1" "" "02416" "{PMID:Imtiaz et al., 2012:22876113}" "relative" "F" "" "Saudi Arabia" "" "0" "" "" "" "" "00163170" "" "" "" "1" "" "02428" "{PMID:Bonnet et al., 2016:27460420}" "" "" "" "France" "" "0" "" "" "" "" "00163171" "" "" "" "1" "" "02428" "{PMID:Bonnet et al., 2016:27460420}" "proband" "F" "" "France" "" "0" "" "" "" "" "00163172" "" "" "" "1" "" "02416" "{PMID:Aparisi et al., 2014:25404053}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163173" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "proband" "" "" "Jordan" "" "0" "" "" "" "" "00163174" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "relative" "" "" "Jordan" "" "0" "" "" "" "" "00163175" "" "" "" "1" "" "02416" "{PMID:Weil et al., 2003:12588794}" "relative" "" "" "Jordan" "" "0" "" "" "" "" "00163176" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163177" "" "" "" "1" "" "02428" "{PMID:Abdi 2016:27583663}" "proband" "F" "" "Algeria" "" "0" "" "" "" "" "00163178" "" "" "" "1" "" "02416" "{PMID:Glöcke et al., 2013:23591405}" "proband" "" "" "" "" "0" "" "" "" "" "00163179" "" "" "" "1" "" "02416" "{PMID:Lenarduzzi et al., 2015:25575603}" "proband" "" "" "Italy" "" "0" "" "" "" "" "00163180" "" "" "" "1" "" "02416" "{PMID:Kalay et al., 2005:16283141}" "proband" "F" "" "Turkey" "" "0" "" "" "" "" "00163181" "" "" "" "1" "" "02416" "{PMID:Kalay et al., 2005:16283141}" "relative" "M" "" "Turkey" "" "0" "" "" "" "" "00163182" "" "" "" "1" "" "02416" "{PMID:Kalay et al., 2005:16283141}" "relative" "F" "" "Turkey" "" "0" "" "" "" "" "00163183" "" "" "" "1" "" "02416" "{PMID:Kalay et al., 2005:16283141}" "relative" "F" "" "Turkey" "" "0" "" "" "" "" "00163184" "" "" "" "1" "" "02416" "{PMID:Kalay et al., 2005:16283141}" "relative" "F" "" "Turkey" "" "0" "" "" "" "" "00163185" "" "" "" "1" "" "02416" "{PMID:Kalay et al., 2005:16283141}" "relative" "M" "" "Turkey" "" "0" "" "" "" "" "00163186" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163187" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163188" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00309455" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309572" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1694" "00309577" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1806" "00320427" "" "" "" "2" "" "00006" "{PMID:Alzahrani 2020:33242396}, {DOI:Alzahrani 2020:10.1016/j.ajhg.2020.11.007}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "10DF10800_a" "00320428" "" "" "00320427" "1" "" "00006" "{PMID:Alzahrani 2020:33242396}, {DOI:Alzahrani 2020:10.1016/j.ajhg.2020.11.007}" "brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "10DF10800_b" "00327013" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB368-719" "00328509" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "13007440" "00334022" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "541" "00358949" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71674" "00362249" "" "" "" "2" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Mexico" "" "0" "" "" "" "Pat17" "00363229" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat134" "00363231" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PatDEM74" "00373402" "" "" "" "3" "" "00000" "{PMID:Riahi 2015:25798947}" "5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Tunisia" "" "0" "" "" "" "FamDF25" "00373403" "" "" "" "1" "" "00000" "{PMID:Riahi 2015:25798947}" "4-generation family, 1 affected (F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Tunisia" "" "0" "" "" "" "FamDF99" "00373508" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "" "" "China" "" "0" "" "" "" "RH7" "00375427" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#021" "00387170" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00388737" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 11, Usher syndrome type I, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "21" "00388924" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 74, Usher syndrome type I, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "208" "00388925" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 74, Usher syndrome type I, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "209" "00396241" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00408994" "" "" "" "1" "" "00000" "{PMID:Desposito 2019:31566003}" "" "F" "yes" "Italy" "" "0" "" "" "" "III:2" "00426193" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "yes" "Oman" "" "0" "" "" "" "10DF10800" "00441455" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4675" "00441456" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4268" "00441481" "" "" "" "1" "" "00006" "{PMID:Chen 2021:34956325}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "FamF" "00441654" "" "" "" "3" "" "00006" "{PMID:Bashir 2010:20811388}, {PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLRB12" "00447428" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "USHII-339" "00448505" "" "" "" "1" "" "04656" "" "" "M" "yes" "Pakistan" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 92 "{{individualid}}" "{{diseaseid}}" "00163126" "02115" "00163127" "02115" "00163128" "02115" "00163130" "05414" "00163131" "02115" "00163132" "02115" "00163133" "02115" "00163134" "02115" "00163135" "02115" "00163136" "02115" "00163137" "02115" "00163138" "02115" "00163139" "02115" "00163140" "02115" "00163141" "02115" "00163142" "05415" "00163143" "05415" "00163144" "05415" "00163145" "05415" "00163146" "05414" "00163147" "05414" "00163148" "02115" "00163149" "05103" "00163150" "02115" "00163151" "02115" "00163152" "02115" "00163153" "02115" "00163154" "02115" "00163155" "02115" "00163156" "02115" "00163157" "02115" "00163158" "02115" "00163159" "02115" "00163160" "02115" "00163161" "02115" "00163162" "05414" "00163163" "05414" "00163164" "05414" "00163165" "02115" "00163167" "02115" "00163168" "02115" "00163169" "02115" "00163170" "02115" "00163171" "05414" "00163172" "02115" "00163173" "02115" "00163174" "02115" "00163175" "02115" "00163176" "05414" "00163177" "02115" "00163178" "05414" "00163179" "02115" "00163180" "05415" "00163181" "05415" "00163182" "05415" "00163183" "05415" "00163184" "05415" "00163185" "05415" "00163186" "05414" "00163187" "05414" "00163188" "05414" "00309455" "04214" "00309572" "04214" "00309577" "04214" "00320427" "00198" "00320427" "05415" "00320428" "00198" "00320428" "05415" "00327013" "05086" "00328509" "04214" "00334022" "04214" "00358949" "04214" "00362249" "05415" "00363229" "05415" "00363231" "05415" "00373402" "05103" "00373403" "05103" "00373508" "04214" "00375427" "04214" "00387170" "02116" "00388737" "04214" "00388924" "04214" "00388925" "04214" "00396241" "04214" "00408994" "05415" "00426193" "00139" "00441455" "05086" "00441456" "05086" "00441481" "05086" "00441654" "05086" "00447428" "00198" "00448505" "05400" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02115, 02116, 02617, 04214, 05086, 05103, 05400, 05414, 05415 ## Count = 88 "{{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}}" "0000128263" "02115" "00163126" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128264" "02115" "00163127" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128265" "02115" "00163128" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128267" "05414" "00163130" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128268" "02115" "00163131" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128269" "02115" "00163132" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128270" "02115" "00163133" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128271" "02115" "00163134" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128272" "02115" "00163135" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128273" "02115" "00163136" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128274" "02115" "00163137" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128275" "02115" "00163138" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128276" "02115" "00163139" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128277" "02115" "00163140" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128278" "02115" "00163141" "00143" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128279" "05415" "00163142" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher, atypical" "" "0000128280" "05415" "00163143" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher, atypical" "" "0000128281" "05415" "00163144" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher, atypical" "" "0000128282" "05415" "00163145" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher, atypical" "" "0000128283" "05414" "00163146" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128284" "05414" "00163147" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128285" "02115" "00163148" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128286" "05103" "00163149" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic (DFN)" "" "0000128287" "02115" "00163150" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128288" "02115" "00163151" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128289" "02115" "00163152" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128290" "02115" "00163153" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128291" "02115" "00163154" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128292" "02115" "00163155" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128293" "02115" "00163156" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128294" "02115" "00163157" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128295" "02115" "00163158" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128296" "02115" "00163159" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128297" "02115" "00163160" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128298" "02115" "00163161" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128299" "05414" "00163162" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128300" "05414" "00163163" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128301" "05414" "00163164" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128302" "02115" "00163165" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128304" "02115" "00163167" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128305" "02115" "00163168" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128306" "02115" "00163169" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128307" "02115" "00163170" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128308" "05414" "00163171" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128309" "02115" "00163172" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128310" "02115" "00163173" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128311" "02115" "00163174" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128312" "02115" "00163175" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128313" "05414" "00163176" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128314" "02115" "00163177" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128315" "05414" "00163178" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128316" "02115" "00163179" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher syndrome, type 1" "" "0000128317" "05415" "00163180" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher, atypical" "" "0000128318" "05415" "00163181" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher, atypical" "" "0000128319" "05415" "00163182" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher, atypical" "" "0000128320" "05415" "00163183" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher, atypical" "" "0000128321" "05415" "00163184" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher, atypical" "" "0000128322" "05415" "00163185" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-1G" "Usher, atypical" "" "0000128323" "05414" "00163186" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128324" "05414" "00163187" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128325" "05414" "00163188" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000234775" "04214" "00309455" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234892" "04214" "00309572" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000234897" "04214" "00309577" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000242401" "00198" "00320427" "00006" "Familial, autosomal recessive" "8y" "atrial septal defect, ventricular septal defect; facial dysmorphism; global developmental delay; microcephaly; short stature; abnormal white matter, brain atrophy; cataract; no genitourinary abnormalities" "" "" "" "" "" "" "" "" "" "global developmental delay" "" "0000242402" "00198" "00320428" "00006" "Familial, autosomal recessive" "3y" "no congenital heart disease; facial dysmorphism; global developmental delay; microcephaly; short stature; abnormal white matter; cataract; hypospadias" "" "" "" "" "" "" "" "" "" "global developmental delay" "" "0000242403" "05415" "00320427" "00006" "Familial, autosomal recessive" "8y" "Usher syndrome" "" "" "" "" "" "" "" "" "USH1G" "Usher syndrome" "" "0000242404" "05415" "00320428" "00006" "Familial, autosomal recessive" "3y" "Usher syndrome" "" "" "" "" "" "" "" "" "USH1G" "Usher syndrome" "" "0000246735" "04214" "00328509" "00000" "Familial, autosomal recessive" "11y" "retinal dystrophy (HP:0000556), sensorineural hearing impairment (HP:0000407)" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000252207" "04214" "00334022" "00000" "Familial, autosomal recessive" "14y" "clinical category IB1a" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000254247" "04214" "00358949" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy, DD: retinitis pigmentosa" "" "0000257663" "05415" "00362249" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Hearing loss" "" "0000258594" "05415" "00363229" "00000" "Familial, autosomal recessive" "9y" "no retinal dystrophy at time the genetic diagnosis" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258596" "05415" "00363231" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, atypical" "" "0000268678" "05103" "00373402" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "deafness" "" "0000268679" "05103" "00373403" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "deafness" "" "0000268784" "04214" "00373508" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macula degeneration" "" "0000270641" "04214" "00375427" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000282278" "04214" "00388737" "00000" "Familial, autosomal recessive" "37y" "age at genetic diagnosis mentioned" "" "30y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282465" "04214" "00388924" "00000" "Familial, autosomal recessive" "13y" "age at genetic diagnosis mentioned" "" "13y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000282466" "04214" "00388925" "00000" "Familial, autosomal recessive" "9y" "age at genetic diagnosis mentioned" "" "8y" "" "" "" "" "" "" "Usher syndrome type I" "" "" "0000289403" "04214" "00396241" "00000" "Familial, autosomal recessive" "38y10m" "atypical vestibular findings, Profound hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type I (USH1)" "" "0000301112" "05415" "00408994" "00000" "Familial, autosomal recessive" "21y" "profound hearing loss: congenital; 22y: visual impairment (nyctalopia, concentric visual field reduction); no vestibular dysfunction" "0m" "22y" "hearing loss: congenital" "" "" "" "" "" "Usher syndrome (USH)" "" "" "0000317343" "00139" "00426193" "00006" "Familial, autosomal recessive" "5y" "Global developmental delay with severely impaired intellectual function and absent speech, additionally Usher syndrome phenotype" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000330895" "05086" "00441455" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330896" "05086" "00441456" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331063" "05086" "00441654" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000336627" "00198" "00447428" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 90 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000163991" "00163126" "1" "02428" "00110" "2016-05-30 11:26:35" "00110" "2016-05-31 17:36:57" "PCRq;arrayCGH" "DNA" "" "" "0000163992" "00163127" "1" "02416" "00110" "2014-03-25 14:51:44" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000163993" "00163128" "1" "02416" "00110" "2011-05-25 14:52:23" "" "" "SEQ" "DNA" "" "" "0000163995" "00163130" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000163996" "00163131" "1" "02416" "00110" "2011-05-25 17:27:08" "" "" "SEQ" "DNA" "" "" "0000163997" "00163132" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2010-05-31 16:23:19" "SEQ" "DNA" "" "" "0000163998" "00163133" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2010-05-31 16:23:19" "SEQ" "DNA" "" "" "0000163999" "00163134" "1" "02416" "00110" "2011-05-25 16:58:55" "" "" "SEQ" "DNA" "" "" "0000164000" "00163135" "1" "02416" "00110" "2015-02-09 15:56:12" "00110" "2015-02-09 16:14:55" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164001" "00163136" "1" "02416" "00110" "2015-02-09 16:09:55" "00110" "2015-02-09 16:14:55" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164002" "00163137" "1" "02416" "00110" "2015-02-09 16:11:53" "00110" "2015-02-09 16:14:55" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164003" "00163138" "1" "02428" "00110" "2016-05-30 11:26:35" "00110" "2016-05-31 17:36:57" "SEQ;SEQ-NG-S;PCRq" "DNA" "" "" "0000164004" "00163139" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:04:16" "SEQ" "DNA" "" "" "0000164005" "00163140" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:04:16" "SEQ" "DNA" "" "" "0000164006" "00163141" "1" "00143" "00110" "2014-01-30 15:25:33" "00110" "2014-10-28 12:39:54" "SEQ-NG-S" "DNA" "" "" "0000164007" "00163142" "1" "02416" "00110" "2010-11-05 11:36:06" "00110" "2010-12-31 15:49:33" "SEQ" "DNA" "" "" "0000164008" "00163143" "1" "02416" "00110" "2010-11-05 13:34:48" "00110" "2010-12-31 15:49:33" "SEQ" "DNA" "" "" "0000164009" "00163144" "1" "02416" "00110" "2010-11-05 13:42:27" "00110" "2010-12-31 15:49:33" "SEQ" "DNA" "" "" "0000164010" "00163145" "1" "02416" "00110" "2010-11-05 13:43:40" "00110" "2010-12-31 15:49:33" "SEQ" "DNA" "" "" "0000164011" "00163146" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164012" "00163147" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164013" "00163148" "1" "02416" "00110" "2012-02-08 17:44:47" "" "" "SEQ" "DNA" "" "" "0000164014" "00163149" "1" "02416" "00110" "2014-10-30 15:59:48" "" "" "SEQ" "DNA" "" "" "0000164015" "00163150" "1" "02428" "00110" "2016-05-30 11:26:35" "00110" "2016-05-31 17:36:57" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164016" "00163151" "1" "02417" "02417" "2010-03-01 15:19:44" "00110" "2010-05-31 14:15:03" "SEQ" "DNA" "" "" "0000164017" "00163152" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164018" "00163153" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:03:50" "SEQ" "DNA" "" "" "0000164019" "00163154" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:03:50" "SEQ" "DNA" "" "" "0000164020" "00163155" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:03:50" "SEQ" "DNA" "" "" "0000164021" "00163156" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:04:16" "SEQ" "DNA" "" "" "0000164022" "00163157" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:03:50" "SEQ" "DNA" "" "" "0000164023" "00163158" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:04:16" "SEQ" "DNA" "" "" "0000164024" "00163159" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:03:50" "SEQ" "DNA" "" "" "0000164025" "00163160" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:04:16" "SEQ" "DNA" "" "" "0000164026" "00163161" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164027" "00163162" "1" "02419" "02419" "2011-09-12 16:33:22" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164028" "00163163" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164029" "00163164" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164030" "00163165" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164032" "00163167" "1" "02416" "00110" "2012-08-13 16:43:45" "" "" "SEQ" "DNA" "" "" "0000164033" "00163168" "1" "02416" "00110" "2012-08-13 16:44:40" "" "" "SEQ" "DNA" "" "" "0000164034" "00163169" "1" "02416" "00110" "2012-08-13 16:45:45" "" "" "SEQ" "DNA" "" "" "0000164035" "00163170" "1" "02428" "00110" "2016-05-30 11:26:35" "00110" "2016-05-31 17:36:57" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164036" "00163171" "1" "02428" "00110" "2016-05-30 11:26:35" "00110" "2016-08-01 14:48:51" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164037" "00163172" "1" "02416" "00110" "2014-12-11 09:34:06" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164038" "00163173" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2010-05-31 17:02:04" "SEQ" "DNA" "" "" "0000164039" "00163174" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2010-05-31 17:02:04" "SEQ" "DNA" "" "" "0000164040" "00163175" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2010-05-31 17:02:04" "SEQ" "DNA" "" "" "0000164041" "00163176" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164042" "00163177" "1" "02428" "00110" "2016-08-08 17:37:37" "" "" "SEQ" "DNA" "" "" "0000164043" "00163178" "1" "02416" "00110" "2013-06-05 15:57:13" "00110" "2016-06-06 09:35:26" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164044" "00163179" "1" "02416" "00110" "2015-02-12 14:29:54" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164045" "00163180" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:03:50" "SEQ" "DNA" "" "" "0000164046" "00163181" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:04:16" "SEQ" "DNA" "" "" "0000164047" "00163182" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:03:50" "SEQ" "DNA" "" "" "0000164048" "00163183" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:03:50" "SEQ" "DNA" "" "" "0000164049" "00163184" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:03:50" "SEQ" "DNA" "" "" "0000164050" "00163185" "1" "02416" "02416" "2010-03-05 09:57:56" "00110" "2011-03-29 11:04:16" "SEQ" "DNA" "" "" "0000164051" "00163186" "1" "02419" "02419" "2011-09-12 16:33:22" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164052" "00163187" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164053" "00163188" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000310600" "00309455" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310717" "00309572" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000310722" "00309577" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000321614" "00320427" "1" "00006" "00006" "2020-11-29 14:31:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321615" "00320428" "1" "00006" "00006" "2020-11-29 14:31:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000328228" "00327013" "1" "03611" "03611" "2021-01-19 03:01:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000329724" "00328509" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000335248" "00334022" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000360186" "00358949" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000363478" "00362249" "1" "02404" "02404" "2021-04-17 13:39:37" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000364457" "00363229" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364459" "00363231" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "arraySNP;SEQ" "DNA" "" "locus‐specific polymorphic microsatellite marker" "0000374637" "00373402" "1" "00000" "00006" "2021-05-14 15:17:31" "" "" "SEQ-NG" "DNA" "" "WES" "0000374638" "00373403" "1" "00000" "00006" "2021-05-14 15:17:31" "" "" "SEQ-NG" "DNA" "" "WES" "0000374743" "00373508" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000376624" "00375427" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000388396" "00387170" "1" "02416" "02416" "2021-10-28 14:01:54" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000389980" "00388737" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390167" "00388924" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390168" "00388925" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000397482" "00396241" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000410259" "00408994" "1" "00000" "03840" "2022-04-29 20:49:10" "" "" "SEQ-NG-I;SEQ" "DNA" "" "13 genes panel" "0000427513" "00426193" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442941" "00441455" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442942" "00441456" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442967" "00441481" "1" "00006" "00006" "2023-11-07 23:33:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443140" "00441654" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449005" "00447428" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000450086" "00448505" "1" "04656" "04656" "2024-03-18 08:26:19" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 81 "{{screeningid}}" "{{geneid}}" "0000163991" "USH1G" "0000163992" "USH1G" "0000163993" "USH1G" "0000163995" "USH1G" "0000163996" "USH1G" "0000163997" "USH1G" "0000163998" "USH1G" "0000163999" "USH1G" "0000164000" "USH1G" "0000164001" "USH1G" "0000164002" "USH1G" "0000164003" "USH1G" "0000164004" "USH1G" "0000164005" "USH1G" "0000164006" "USH1G" "0000164007" "USH1G" "0000164008" "USH1G" "0000164009" "USH1G" "0000164010" "USH1G" "0000164011" "USH1G" "0000164012" "USH1G" "0000164013" "USH1G" "0000164014" "USH1G" "0000164015" "USH1G" "0000164016" "USH1G" "0000164017" "USH1G" "0000164018" "USH1G" "0000164019" "USH1G" "0000164020" "USH1G" "0000164021" "USH1G" "0000164022" "USH1G" "0000164023" "USH1G" "0000164024" "USH1G" "0000164025" "USH1G" "0000164026" "USH1G" "0000164027" "USH1G" "0000164028" "USH1G" "0000164029" "USH1G" "0000164030" "USH1G" "0000164032" "USH1G" "0000164033" "USH1G" "0000164034" "USH1G" "0000164035" "USH1G" "0000164036" "USH1G" "0000164037" "USH1G" "0000164038" "USH1G" "0000164039" "USH1G" "0000164040" "USH1G" "0000164041" "USH1G" "0000164042" "USH1G" "0000164043" "USH1G" "0000164044" "USH1G" "0000164045" "USH1G" "0000164046" "USH1G" "0000164047" "USH1G" "0000164048" "USH1G" "0000164049" "USH1G" "0000164050" "USH1G" "0000164051" "USH1G" "0000164052" "USH1G" "0000164053" "USH1G" "0000310600" "USH1G" "0000310717" "USH1G" "0000310722" "USH1G" "0000321614" "SMG8" "0000321614" "USH1G" "0000321615" "SMG8" "0000321615" "USH1G" "0000329724" "USH1G" "0000335248" "USH1G" "0000364457" "USH1G" "0000364459" "USH1G" "0000374637" "USH1G" "0000374638" "USH1G" "0000374743" "USH1G" "0000389980" "USH1G" "0000390167" "USH1G" "0000390168" "USH1G" "0000397482" "USH1G" "0000410259" "USH1G" "0000450086" "USH1G" ## 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 = 141 "{{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}}" "0000256215" "0" "50" "17" "72916539" "72916539" "subst" "0" "01943" "USH1G_000048" "g.72916539A>C" "" "" "" "USH1G(NM_173477.4):c.392T>G (p.L131R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74920444A>C" "" "VUS" "" "0000256293" "0" "50" "17" "72916611" "72916611" "subst" "4.06365E-6" "01943" "USH1G_000049" "g.72916611A>G" "" "" "" "USH1G(NM_173477.4):c.320T>C (p.M107T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74920516A>G" "" "VUS" "" "0000304889" "0" "50" "17" "72923351" "72923351" "subst" "0.000194911" "01943" "OTOP2_000002" "g.72923351G>A" "" "" "" "OTOP2(NM_178160.2):c.484G>A (p.V162I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74927256G>A" "" "VUS" "" "0000304890" "0" "30" "17" "72920775" "72920775" "subst" "0" "01943" "OTOP2_000001" "g.72920775G>A" "" "" "" "OTOP2(NM_178160.2):c.48G>A (p.P16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74924680G>A" "" "likely benign" "" "0000311147" "0" "10" "17" "72918993" "72918993" "subst" "0" "02330" "USH1G_000050" "g.72918993G>T" "" "" "" "USH1G(NM_173477.5):c.164+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74922898G>T" "" "benign" "" "0000311148" "0" "10" "17" "72916421" "72916421" "subst" "0.000140559" "02330" "USH1G_000046" "g.72916421G>C" "" "" "" "USH1G(NM_173477.4):c.510C>G (p.A170=), USH1G(NM_173477.5):c.510C>G (p.A170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74920326G>C" "" "benign" "" "0000311149" "0" "30" "17" "72916365" "72916365" "subst" "0.0021251" "02330" "USH1G_000045" "g.72916365C>T" "" "" "" "USH1G(NM_173477.4):c.566G>A (p.R189Q), USH1G(NM_173477.5):c.566G>A (p.R189Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74920270C>T" "" "likely benign" "" "0000311150" "0" "10" "17" "72916175" "72916175" "subst" "0.000138089" "02330" "USH1G_000043" "g.72916175G>A" "" "" "" "USH1G(NM_173477.4):c.756C>T (p.D252=), USH1G(NM_173477.5):c.756C>T (p.D252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74920080G>A" "" "benign" "" "0000311151" "0" "50" "17" "72916094" "72916094" "subst" "0.000643327" "02330" "USH1G_000042" "g.72916094G>C" "" "" "" "USH1G(NM_173477.4):c.837C>G (p.D279E), USH1G(NM_173477.5):c.837C>G (p.D279E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74919999G>C" "" "VUS" "" "0000319360" "0" "50" "17" "72915673" "72915673" "subst" "0.000939834" "01943" "USH1G_000027" "g.72915673G>C" "" "" "" "USH1G(NM_173477.4):c.1258C>G (p.L420V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74919578G>C" "" "VUS" "" "0000319361" "0" "30" "17" "72916430" "72916430" "subst" "0.00156767" "01943" "USH1G_000023" "g.72916430G>C" "" "" "" "USH1G(NM_173477.4):c.501C>G (p.R167=), USH1G(NM_173477.5):c.501C>G (p.R167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74920335G>C" "" "likely benign" "" "0000319362" "0" "30" "17" "72916421" "72916421" "subst" "0.000140559" "01943" "USH1G_000046" "g.72916421G>C" "" "" "" "USH1G(NM_173477.4):c.510C>G (p.A170=), USH1G(NM_173477.5):c.510C>G (p.A170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74920326G>C" "" "likely benign" "" "0000319363" "0" "30" "17" "72916365" "72916365" "subst" "0.0021251" "01943" "USH1G_000045" "g.72916365C>T" "" "" "" "USH1G(NM_173477.4):c.566G>A (p.R189Q), USH1G(NM_173477.5):c.566G>A (p.R189Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74920270C>T" "" "likely benign" "" "0000319364" "0" "30" "17" "72916226" "72916226" "subst" "0.000591386" "01943" "USH1G_000013" "g.72916226C>T" "" "" "" "USH1G(NM_173477.4):c.705G>A (p.E235=), USH1G(NM_173477.5):c.705G>A (p.E235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74920131C>T" "" "likely benign" "" "0000319365" "0" "50" "17" "72916094" "72916094" "subst" "0.000643327" "01943" "USH1G_000042" "g.72916094G>C" "" "" "" "USH1G(NM_173477.4):c.837C>G (p.D279E), USH1G(NM_173477.5):c.837C>G (p.D279E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74919999G>C" "" "VUS" "" "0000347160" "0" "50" "17" "72915673" "72915673" "subst" "0.000939834" "02327" "USH1G_000027" "g.72915673G>C" "" "" "" "USH1G(NM_173477.4):c.1258C>G (p.L420V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74919578G>C" "" "VUS" "" "0000348348" "0" "50" "17" "72919086" "72919086" "subst" "0.000725278" "02327" "USH1G_000022" "g.72919086G>A" "" "" "" "USH1G(NM_173477.4):c.83C>T (p.P28L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74922991G>A" "" "VUS" "" "0000367038" "3" "99" "17" "72912176" "72919358" "del" "0" "02428" "USH1G_000056" "g.72912176_72919358del" "" "{PMID:Bonnet et al., 2016:27460420}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74916083_74923265del" "" "pathogenic" "" "0000367039" "0" "75" "17" "72919141" "72919141" "subst" "0" "02416" "USH1G_000028" "g.72919141G>A" "" "{PMID:Yoshimura et al., 2014:24618850}" "" "" "heterozygous, {USMAUSH1G:R10W} {MSV3dQ495M9:p.Arg10Trp}" "Germline" "" "" "0" "" "" "g.74923046G>A" "" "VUS" "ACMG" "0000367040" "0" "95" "17" "72919123" "72919123" "subst" "0" "02416" "USH1G_000010" "g.72919123G>C" "0/666 controls" "{PMID:Bonnet et al., 2011:21569298}" "+MnlI;+PpuMI;+Sau96I;-BanII;-AluI;-CviKI_1;" "" "heterozygous, {USMAUSH1G:L16V} {MSV3dQ495M9:p.Leu16Val}" "Germline" "" "" "0" "" "" "g.74923028G>C" "" "VUS" "ACMG" "0000367042" "0" "13" "17" "72919086" "72919086" "subst" "0.000725278" "02419" "USH1G_000022" "g.72919086G>A" "0/96 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+MnlI;+EcoNI;+TaqI;" "" "heterozygous, {USMAUSH1G:P28L} {MSV3dQ495M9:p.Pro28Leu}" "Germline" "" "rs145448362" "0" "" "" "g.74922991G>A" "" "likely benign" "ACMG" "0000367043" "3" "99" "17" "72919089" "72919089" "dup" "0" "02416" "USH1G_000011" "g.72919089dup" "" "{PMID:Bonnet et al., 2011:21569298}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.74922994dup" "" "pathogenic" "" "0000367044" "3" "99" "17" "72919056" "72919056" "subst" "0" "02416" "USH1G_000007" "g.72919056C>T" "" "{PMID:Ouyang et al., 2005:15660226}" "+BfaI;-PflMI;-BslI;" "" "homozygous" "Germline" "" "rs104894652" "0" "" "" "g.74922961C>T" "" "pathogenic" "" "0000367045" "3" "99" "17" "72919056" "72919056" "subst" "0" "02416" "USH1G_000007" "g.72919056C>T" "" "{PMID:Ouyang et al., 2005:15660226}" "+BfaI;-PflMI;-BslI;" "" "homozygous" "Germline" "" "rs104894652" "0" "" "" "g.74922961C>T" "" "pathogenic" "" "0000367046" "0" "99" "17" "72919056" "72919056" "subst" "0" "02416" "USH1G_000007" "g.72919056C>T" "" "{PMID:Bonnet et al., 2011:21569298}" "+BfaI;-PflMI;-BslI;" "" "Heterozygous" "Germline" "" "rs104894652" "0" "" "" "g.74922961C>T" "" "pathogenic" "" "0000367047" "3" "99" "17" "72919056" "72919056" "subst" "0" "02416" "USH1G_000007" "g.72919056C>T" "" "{PMID:Bujakowska et al., 2014:25468891}" "+BfaI;-PflMI;-BslI;" "" "homozygous" "Germline" "" "rs104894652" "0" "" "" "g.74922961C>T" "" "pathogenic" "" "0000367048" "3" "99" "17" "72919056" "72919056" "subst" "0" "02416" "USH1G_000007" "g.72919056C>T" "" "{PMID:Bujakowska et al., 2014:25468891}" "+BfaI;-PflMI;-BslI;" "" "homozygous" "Germline" "" "rs104894652" "0" "" "" "g.74922961C>T" "" "pathogenic" "" "0000367049" "3" "99" "17" "72919056" "72919056" "subst" "0" "02416" "USH1G_000007" "g.72919056C>T" "" "{PMID:Bujakowska et al., 2014:25468891}" "+BfaI;-PflMI;-BslI;" "" "homozygous" "Germline" "" "rs104894652" "0" "" "" "g.74922961C>T" "" "pathogenic" "" "0000367050" "1" "99" "17" "72919056" "72919056" "subst" "0" "02428" "USH1G_000007" "g.72919056C>T" "" "{PMID:Bonnet et al., 2016:27460420}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.74922961C>T" "" "pathogenic" "" "0000367051" "2" "99" "17" "72919026" "72919026" "subst" "0" "02416" "USH1G_000003" "g.72919026A>G" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "heterozygous, {USMAUSH1G:L48P} {MSV3dQ495M9:p.Leu48Pro}" "Germline" "" "rs104894651" "0" "" "" "g.74922931A>G" "" "pathogenic" "" "0000367052" "2" "99" "17" "72919026" "72919026" "subst" "0" "02416" "USH1G_000003" "g.72919026A>G" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "heterozygous, {USMAUSH1G:L48P} {MSV3dQ495M9:p.Leu48Pro}" "Germline" "" "rs104894651" "0" "" "" "g.74922931A>G" "" "pathogenic" "" "0000367053" "0" "99" "17" "72919026" "72919026" "subst" "0" "00143" "USH1G_000003" "g.72919026A>G" "" "{PMID:Krawitz et al., 2014:25333064}" "" "" "heterozygous, {USMAUSH1G:L48P} {MSV3dQ495M9:p.Leu48Pro}" "Germline" "" "rs104894651" "0" "" "" "g.74922931A>G" "" "pathogenic" "" "0000367054" "3" "99" "17" "72918993" "72919007" "del" "0" "02416" "USH1G_000008" "g.72918993_72919007del" "0/200 controls" "{PMID:Bashir et al., 2010:21044053}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74922898_74922912del" "" "pathogenic" "" "0000367055" "3" "99" "17" "72918993" "72919007" "del" "0" "02416" "USH1G_000008" "g.72918993_72919007del" "0/200 controls" "{PMID:Bashir et al., 2010:21044053}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74922898_74922912del" "" "pathogenic" "" "0000367056" "3" "99" "17" "72918993" "72919007" "del" "0" "02416" "USH1G_000008" "g.72918993_72919007del" "0/200 controls" "{PMID:Bashir et al., 2010:21044053}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74922898_74922912del" "" "pathogenic" "" "0000367057" "3" "99" "17" "72918993" "72919007" "del" "0" "02416" "USH1G_000008" "g.72918993_72919007del" "0/200 controls" "{PMID:Bashir et al., 2010:21044053}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74922898_74922912del" "" "pathogenic" "" "0000367058" "0" "13" "17" "72918887" "72918887" "subst" "0" "02419" "USH1G_000017" "g.72918887C>T" "0/96 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.74922792C>T" "" "likely benign" "ACMG" "0000367059" "0" "13" "17" "72918887" "72918887" "subst" "0" "02419" "USH1G_000017" "g.72918887C>T" "0/96 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.74922792C>T" "" "likely benign" "ACMG" "0000367060" "1" "99" "17" "72916745" "72916746" "del" "0" "02416" "USH1G_000002" "g.72916745_72916746del" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "186_187delCA" "Heterozygous" "Germline" "" "" "0" "" "" "g.74920650_74920651del" "" "pathogenic" "" "0000367061" "1" "99" "17" "72916745" "72916746" "del" "0" "02416" "USH1G_000002" "g.72916745_72916746del" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "186_187delCA" "Heterozygous" "Germline" "" "" "0" "" "" "g.74920650_74920651del" "" "pathogenic" "" "0000367062" "0" "99" "17" "72916745" "72916746" "del" "0" "00143" "USH1G_000002" "g.72916745_72916746del" "" "{PMID:Krawitz et al., 2014:25333064}" "" "186_187delCA" "Heterozygous" "Germline" "" "" "0" "" "" "g.74920650_74920651del" "" "pathogenic" "" "0000367063" "3" "99" "17" "72916724" "72916725" "ins" "0" "02416" "USH1G_000026" "g.72916724_72916725insG" "0/98 controls" "{PMID:Rizel et al., 2012:22219650}" "+MnlI;-BslI;-HpyCH4V;" "" "homozygous" "Germline" "" "" "0" "" "" "g.74920629_74920630insG" "" "pathogenic" "" "0000367064" "11" "75" "17" "72916621" "72916621" "subst" "0.000142205" "02416" "USH1G_000030" "g.72916621T>C" "0/350 controls" "{PMID:Oonk et al., 2014:25255398}" "" "" "heterozygous, {USMAUSH1G:M104V} {MSV3dQ495M9:p.Met104Val}" "Germline" "" "rs149529031" "0" "" "" "g.74920526T>C" "" "VUS" "ACMG" "0000367065" "10" "99" "17" "72916547" "72916547" "dup" "0" "02428" "USH1G_000054" "g.72916547dup" "" "{PMID:Bonnet et al., 2016:27460420}" "" "387dupC" "homozygous" "Germline" "" "" "0" "" "" "g.74920452dup" "" "pathogenic" "" "0000367066" "20" "99" "17" "72916547" "72916547" "dup" "0" "02428" "USH1G_000054" "g.72916547dup" "" "{PMID:Bonnet et al., 2016:27460420}" "" "387dupC" "homozygous" "Germline" "" "" "0" "" "" "g.74920452dup" "" "pathogenic" "" "0000367067" "0" "11" "17" "72916543" "72916543" "subst" "0.00954262" "02417" "USH1G_000015" "g.72916543T>C" "" "{PMID:Aparisi et al., 2014:25404053}" "+BsoBI;+AvaI;-BstXI;" "387G>A (Lys130Glu)" "heterozygous, {USMAUSH1G:K130E} {MSV3dQ495M9:p.Lys130Glu}" "Germline" "" "rs111033465" "0" "" "" "g.74920448T>C" "" "likely benign" "ACMG" "0000367068" "0" "11" "17" "72916543" "72916543" "subst" "0.00954262" "02419" "USH1G_000015" "g.72916543T>C" "0/878 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+BsoBI;+AvaI;-BstXI;" "" "heterozygous, {USMAUSH1G:K130E} {MSV3dQ495M9:p.Lys130Glu}" "Germline" "" "rs111033465" "0" "" "" "g.74920448T>C" "" "likely benign" "ACMG" "0000367069" "0" "11" "17" "72916543" "72916543" "subst" "0.00954262" "02419" "USH1G_000015" "g.72916543T>C" "0/878 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+BsoBI;+AvaI;-BstXI;" "" "heterozygous, {USMAUSH1G:K130E} {MSV3dQ495M9:p.Lys130Glu}" "Germline" "" "rs111033465" "0" "" "" "g.74920448T>C" "" "likely benign" "ACMG" "0000367070" "3" "99" "17" "72916538" "72916538" "dup" "0" "02416" "USH1G_000005" "g.72916538dup" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74920443dup" "" "pathogenic" "" "0000367071" "3" "99" "17" "72916538" "72916538" "dup" "0" "02416" "USH1G_000005" "g.72916538dup" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74920443dup" "" "pathogenic" "" "0000367072" "3" "99" "17" "72916538" "72916538" "dup" "0" "02416" "USH1G_000005" "g.72916538dup" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74920443dup" "" "pathogenic" "" "0000367073" "3" "99" "17" "72916538" "72916538" "dup" "0" "02416" "USH1G_000005" "g.72916538dup" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74920443dup" "" "pathogenic" "" "0000367074" "3" "99" "17" "72916538" "72916538" "dup" "0" "02416" "USH1G_000005" "g.72916538dup" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74920443dup" "" "pathogenic" "" "0000367075" "3" "99" "17" "72916538" "72916538" "dup" "0" "02416" "USH1G_000005" "g.72916538dup" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74920443dup" "" "pathogenic" "" "0000367076" "3" "99" "17" "72916538" "72916538" "dup" "0" "02416" "USH1G_000005" "g.72916538dup" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74920443dup" "" "pathogenic" "" "0000367077" "3" "99" "17" "72916538" "72916538" "dup" "0" "02416" "USH1G_000005" "g.72916538dup" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74920443dup" "" "pathogenic" "" "0000367078" "0" "13" "17" "72916507" "72916507" "subst" "0.00952288" "02417" "USH1G_000031" "g.72916507C>T" "" "{PMID:Aparisi et al., 2014:25404053}" "" "423G>A (Glu142Lys)" "heterozygous, {USMAUSH1G:E142K} {MSV3dQ495M9:p.Glu142Lys}" "Germline" "" "rs111033466" "0" "" "" "g.74920412C>T" "" "likely benign" "ACMG" "0000367079" "0" "13" "17" "72916430" "72916430" "subst" "0.00156767" "02419" "USH1G_000023" "g.72916430G>C" "1/844 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+FauI;+AciI;-BstUI;-HinP1I;-HhaI;" "" "Heterozygous" "Germline" "" "rs141688757" "0" "" "" "g.74920335G>C" "" "likely benign" "ACMG" "0000367080" "21" "13" "17" "72916253" "72916253" "subst" "0.00034318" "02419" "USH1G_000016" "g.72916253G>T" "0/878 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+MnlI;-Fnu4HI;-MwoI;-AciI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.74920158G>T" "" "likely benign" "ACMG" "0000367081" "0" "11" "17" "72916226" "72916226" "subst" "0.000591386" "02419" "USH1G_000013" "g.72916226C>T" "1/842 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+MboII;-BtsCI;-FokI;-BsaJI;-MnlI;" "" "Heterozygous" "Germline" "" "rs149002004" "0" "" "" "g.74920131C>T" "" "likely benign" "ACMG" "0000367082" "21" "11" "17" "72916226" "72916226" "subst" "0.000591386" "02419" "USH1G_000013" "g.72916226C>T" "1/842 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+MboII;-BtsCI;-FokI;-BsaJI;-MnlI;" "" "Heterozygous" "Germline" "" "rs149002004" "0" "" "" "g.74920131C>T" "" "likely benign" "ACMG" "0000367083" "0" "11" "17" "72916226" "72916226" "subst" "0.000591386" "02419" "USH1G_000013" "g.72916226C>T" "1/842 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+MboII;-BtsCI;-FokI;-BsaJI;-MnlI;" "" "Heterozygous" "Germline" "" "rs149002004" "0" "" "" "g.74920131C>T" "" "likely benign" "ACMG" "0000367085" "3" "99" "17" "72916203" "72916203" "subst" "1.68766E-5" "02416" "USH1G_000009" "g.72916203G>T" "0/300 controls" "{PMID:Imtiaz et al., 2012:22876113}" "+BmtI;+NheI;+AluI;+BfaI;+CviKI_1;-BsrBl;" "" "homozygous" "Germline" "" "" "0" "" "" "g.74920108G>T" "" "pathogenic" "" "0000367086" "3" "99" "17" "72916203" "72916203" "subst" "1.68766E-5" "02416" "USH1G_000009" "g.72916203G>T" "" "{PMID:Imtiaz et al., 2012:22876113}" "+BmtI;+NheI;+AluI;+BfaI;+CviKI_1;-BsrBl;" "" "homozygous" "Germline" "" "" "0" "" "" "g.74920108G>T" "" "pathogenic" "" "0000367087" "3" "99" "17" "72916203" "72916203" "subst" "1.68766E-5" "02416" "USH1G_000009" "g.72916203G>T" "" "{PMID:Imtiaz et al., 2012:22876113}" "+BmtI;+NheI;+AluI;+BfaI;+CviKI_1;-BsrBl;" "" "homozygous" "Germline" "" "" "0" "" "" "g.74920108G>T" "" "pathogenic" "" "0000367088" "10" "99" "17" "72916189" "72916189" "subst" "2.94298E-5" "02428" "USH1G_000053" "g.72916189G>A" "" "{PMID:Bonnet et al., 2016:27460420}" "" "" "homozygous" "Germline" "" "rs773231689" "0" "" "" "g.74920094G>A" "" "pathogenic" "" "0000367089" "20" "99" "17" "72916189" "72916189" "subst" "2.94298E-5" "02428" "USH1G_000053" "g.72916189G>A" "" "{PMID:Bonnet et al., 2016:27460420}" "" "" "homozygous" "Germline" "" "rs773231689" "0" "" "" "g.74920094G>A" "" "pathogenic" "" "0000367090" "21" "99" "17" "72916151" "72916152" "ins" "0" "02416" "USH1G_000029" "g.72916151_72916152insTGCG" "0/350 controls" "{PMID:Oonk et al., 2014:25255398}" "" "780insGCAC" "Heterozygous" "Germline" "" "" "0" "" "" "g.74920056_74920057insTGCG" "" "pathogenic" "" "0000367091" "0" "99" "17" "72916131" "72916131" "subst" "0" "02428" "USH1G_000057" "g.72916131C>T" "" "{PMID:Bonnet et al., 2016:27460420}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.74920036C>T" "" "pathogenic" "" "0000367092" "0" "97" "17" "72916126" "72916126" "subst" "4.12422E-6" "02416" "USH1G_000032" "g.72916126G>A" "" "{PMID:Aparisi et al., 2014:25404053}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.74920031G>A" "" "likely pathogenic" "ACMG" "0000367093" "3" "99" "17" "72916083" "72916102" "del" "0" "02416" "USH1G_000004" "g.72916083_72916102del" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74919988_74920007del" "" "pathogenic" "" "0000367094" "3" "99" "17" "72916083" "72916102" "del" "0" "02416" "USH1G_000004" "g.72916083_72916102del" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74919988_74920007del" "" "pathogenic" "" "0000367095" "3" "99" "17" "72916083" "72916102" "del" "0" "02416" "USH1G_000004" "g.72916083_72916102del" "0/160 controls" "{PMID:Weil et al., 2003:12588794}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74919988_74920007del" "" "pathogenic" "" "0000367096" "21" "13" "17" "72915779" "72915779" "subst" "0.000233754" "02419" "USH1G_000019" "g.72915779G>A" "0/878 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+AlwI;+BstYI;+Sau3AI;-BssKI;-StyD4I;-BstNI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.74919684G>A" "" "likely benign" "ACMG" "0000367097" "3" "95" "17" "72915741" "72915743" "del" "0" "02428" "USH1G_000058" "g.72915741_72915743del" "" "{PMID:Abdi 2016:27583663}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.74919646_74919648del" "" "VUS" "ACMG" "0000367098" "0" "13" "17" "72915673" "72915673" "subst" "0.000939834" "02416" "USH1G_000027" "g.72915673G>C" "" "{PMID:Glöcke et al., 2013:23591405}" "+BccI\t;-SfaNI;" "" "heterozygous, {USMAUSH1G:L420V} {MSV3dQ495M9:p.Leu420Val}" "Germline" "" "rs139897506" "0" "" "" "g.74919578G>C" "" "likely benign" "ACMG" "0000367099" "11" "75" "17" "72915592" "72915592" "subst" "1.2532E-5" "02416" "USH1G_000033" "g.72915592G>A" "" "{PMID:Lenarduzzi et al., 2015:25575603}" "" "" "heterozygous, {USMAUSH1G:R447W} {MSV3dQ495M9:p.(Arg447Trp}" "Germline" "" "" "0" "" "" "g.74919497G>A" "" "VUS" "ACMG" "0000367100" "3" "99" "17" "72915558" "72915558" "subst" "4.20165E-6" "02416" "USH1G_000006" "g.72915558T>A" "1/498 controls" "{PMID:Kalay et al., 2005:16283141}" "" "" "homozygous, {USMAUSH1G:D458V} {MSV3dQ495M9:p.Asp458Val}" "Germline" "" "" "0" "" "" "g.74919463T>A" "" "pathogenic" "" "0000367101" "3" "99" "17" "72915558" "72915558" "subst" "4.20165E-6" "02416" "USH1G_000006" "g.72915558T>A" "1/498 controls" "{PMID:Kalay et al., 2005:16283141}" "" "" "homozygous, {USMAUSH1G:D458V} {MSV3dQ495M9:p.Asp458Val}" "Germline" "" "" "0" "" "" "g.74919463T>A" "" "pathogenic" "" "0000367102" "3" "99" "17" "72915558" "72915558" "subst" "4.20165E-6" "02416" "USH1G_000006" "g.72915558T>A" "1/498 controls" "{PMID:Kalay et al., 2005:16283141}" "" "" "homozygous, {USMAUSH1G:D458V} {MSV3dQ495M9:p.Asp458Val}" "Germline" "" "" "0" "" "" "g.74919463T>A" "" "pathogenic" "" "0000367103" "3" "99" "17" "72915558" "72915558" "subst" "4.20165E-6" "02416" "USH1G_000006" "g.72915558T>A" "1/498 controls" "{PMID:Kalay et al., 2005:16283141}" "" "" "homozygous, {USMAUSH1G:D458V} {MSV3dQ495M9:p.Asp458Val}" "Germline" "" "" "0" "" "" "g.74919463T>A" "" "pathogenic" "" "0000367104" "3" "99" "17" "72915558" "72915558" "subst" "4.20165E-6" "02416" "USH1G_000006" "g.72915558T>A" "1/498 controls" "{PMID:Kalay et al., 2005:16283141}" "" "" "homozygous, {USMAUSH1G:D458V} {MSV3dQ495M9:p.Asp458Val}" "Germline" "" "" "0" "" "" "g.74919463T>A" "" "pathogenic" "" "0000367105" "3" "99" "17" "72915558" "72915558" "subst" "4.20165E-6" "02416" "USH1G_000006" "g.72915558T>A" "1/498 controls" "{PMID:Kalay et al., 2005:16283141}" "" "" "homozygous, {USMAUSH1G:D458V} {MSV3dQ495M9:p.Asp458Val}" "Germline" "" "" "0" "" "" "g.74919463T>A" "" "pathogenic" "" "0000367106" "0" "13" "17" "72914234" "72914234" "subst" "0" "02419" "USH1G_000018" "g.72914234A>T" "0/96 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "-HphI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.74918139A>T" "" "likely benign" "ACMG" "0000367107" "2" "99" "17" "72912176" "72914171" "del" "0" "02428" "USH1G_000055" "g.72912176_72914171del" "" "{PMID:Bonnet et al., 2016:27460420}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.74916083_74918078del" "" "pathogenic" "" "0000367108" "0" "13" "17" "72914104" "72914104" "subst" "0" "02419" "USH1G_000024" "g.72914104C>T" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+BpuEI;-XhoI;-TliI;-MnlI;-AvaI;-BsoBI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.74918009C>T" "" "likely benign" "ACMG" "0000367109" "0" "13" "17" "72913953" "72913953" "subst" "0" "02419" "USH1G_000014" "g.72913953A>G" "0/96 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+BsaJI;-DdeI;-BspCNI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.74917858A>G" "" "likely benign" "ACMG" "0000367110" "0" "13" "17" "72913014" "72913015" "del" "0" "02419" "USH1G_000020" "g.72913014_72913015del" "0/96 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "none" "*1163_*1164delTG" "Heterozygous" "Germline" "" "" "0" "" "" "g.74916922_74916923del" "" "likely benign" "ACMG" "0000367111" "0" "13" "17" "72913014" "72913015" "del" "0" "02419" "USH1G_000020" "g.72913014_72913015del" "0/96 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "none" "*1163_*1164delTG" "Heterozygous" "Germline" "" "" "0" "" "" "g.74916922_74916923del" "" "likely benign" "ACMG" "0000367112" "0" "11" "17" "72912509" "72912509" "subst" "0" "02419" "USH1G_000021" "g.72912509A>G" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+HpyCH4IV,+PmlI,+BsaAI;-NspI;-FatI;-NlaIII;" "" "Heterozygous" "Germline" "" "rs8067775" "0" "" "" "g.74916417A>G" "" "benign" "" "0000562973" "0" "30" "17" "72914155" "72914155" "subst" "3.66092E-5" "02330" "USH1G_000059" "g.72914155G>A" "" "" "" "USH1G(NM_173477.5):c.*13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74918060G>A" "" "likely benign" "" "0000562974" "0" "30" "17" "72914175" "72914175" "subst" "0" "01943" "USH1G_000060" "g.72914175T>C" "" "" "" "USH1G(NM_173477.4):c.1383-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74918080T>C" "" "likely benign" "" "0000562975" "0" "50" "17" "72915871" "72915871" "subst" "4.09306E-6" "01943" "OTOP2_000004" "g.72915871C>G" "" "" "" "USH1G(NM_173477.4):c.1060G>C (p.D354H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74919776C>G" "" "VUS" "" "0000562976" "0" "30" "17" "72915920" "72915920" "subst" "0" "01943" "OTOP2_000005" "g.72915920A>C" "" "" "" "USH1G(NM_173477.4):c.1011T>G (p.D337E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74919825A>C" "" "likely benign" "" "0000562977" "0" "30" "17" "72916175" "72916175" "subst" "0.000138089" "01943" "USH1G_000043" "g.72916175G>A" "" "" "" "USH1G(NM_173477.4):c.756C>T (p.D252=), USH1G(NM_173477.5):c.756C>T (p.D252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74920080G>A" "" "likely benign" "" "0000562978" "0" "50" "17" "72916185" "72916185" "subst" "0" "01943" "OTOP2_000006" "g.72916185A>T" "" "" "" "USH1G(NM_173477.4):c.746T>A (p.L249Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74920090A>T" "" "VUS" "" "0000562979" "0" "10" "17" "72916226" "72916226" "subst" "0.000591386" "02330" "USH1G_000013" "g.72916226C>T" "" "" "" "USH1G(NM_173477.4):c.705G>A (p.E235=), USH1G(NM_173477.5):c.705G>A (p.E235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74920131C>T" "" "benign" "" "0000562980" "0" "10" "17" "72916430" "72916430" "subst" "0.00156767" "02330" "USH1G_000023" "g.72916430G>C" "" "" "" "USH1G(NM_173477.4):c.501C>G (p.R167=), USH1G(NM_173477.5):c.501C>G (p.R167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74920335G>C" "" "benign" "" "0000562981" "0" "50" "17" "72916621" "72916621" "subst" "0.000142205" "02330" "USH1G_000030" "g.72916621T>C" "" "" "" "USH1G(NM_001282489.2):c.1A>G (p.M1?), USH1G(NM_001282489.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74920526T>C" "" "VUS" "" "0000562982" "0" "70" "17" "72916621" "72916621" "subst" "0.000142205" "01943" "USH1G_000030" "g.72916621T>C" "" "" "" "USH1G(NM_001282489.2):c.1A>G (p.M1?), USH1G(NM_001282489.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74920526T>C" "" "likely pathogenic" "" "0000562983" "0" "10" "17" "72919052" "72919052" "subst" "0" "02330" "OTOP2_000007" "g.72919052A>C" "" "" "" "USH1G(NM_173477.5):c.117T>G (p.A39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74922957A>C" "" "benign" "" "0000616803" "0" "50" "17" "72916365" "72916365" "subst" "0.0021251" "02327" "USH1G_000045" "g.72916365C>T" "" "" "" "USH1G(NM_173477.4):c.566G>A (p.R189Q), USH1G(NM_173477.5):c.566G>A (p.R189Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74920270C>T" "" "VUS" "" "0000616804" "0" "90" "17" "72916745" "72916746" "del" "0" "02327" "USH1G_000002" "g.72916745_72916746del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74920650_74920651del" "" "pathogenic" "" "0000623761" "0" "50" "17" "72916296" "72916296" "subst" "0.000139883" "01943" "OTOP2_000008" "g.72916296C>G" "" "" "" "USH1G(NM_173477.4):c.635G>C (p.G212A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74920201C>G" "" "VUS" "" "0000681004" "0" "50" "17" "72919086" "72919086" "subst" "0.000725278" "01943" "USH1G_000022" "g.72919086G>A" "" "" "" "USH1G(NM_173477.4):c.83C>T (p.P28L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000685511" "0" "90" "17" "72916726" "72916726" "dup" "0" "00004" "USH1G_000062" "g.72916726dup" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685665" "3" "50" "17" "72915735" "72915735" "subst" "0" "00004" "USH1G_000061" "g.72915735A>G" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.74919640A>G" "" "VUS" "" "0000685670" "3" "90" "17" "72916126" "72916126" "subst" "4.12422E-6" "00004" "USH1G_000032" "g.72916126G>A" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.74920031G>A" "" "pathogenic (recessive)" "" "0000704525" "3" "90" "17" "72915945" "72915954" "dup" "0" "00006" "USH1G_000063" "g.72915945_72915954dup" "" "{PMID:Alzahrani 2020:33242396}, {DOI:Alzahrani 2020:10.1016/j.ajhg.2020.11.007}" "" "977_986dupTCAGCGTCCC" "" "Germline" "yes" "" "0" "" "" "g.74919850_74919859dup" "" "pathogenic (recessive)" "" "0000704526" "3" "90" "17" "72915945" "72915954" "dup" "0" "00006" "USH1G_000063" "g.72915945_72915954dup" "" "{PMID:Alzahrani 2020:33242396}, {DOI:Alzahrani 2020:10.1016/j.ajhg.2020.11.007}" "" "977_986dupTCAGCGTCCC" "" "Germline" "yes" "" "0" "" "" "g.74919850_74919859dup" "" "pathogenic (recessive)" "" "0000712159" "0" "50" "17" "72919121" "72919123" "del" "0" "03611" "USH1G_000065" "g.72919121_72919123del" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "49_51delCTC" "ACMG PM2, PM3_P, PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.74923026_74923028del" "" "VUS" "ACMG" "0000714081" "3" "70" "17" "72916420" "72916420" "subst" "4.13801E-6" "00000" "USH1G_000066" "g.72916420C>A" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.74920325C>A" "" "likely pathogenic (recessive)" "" "0000733257" "3" "70" "17" "72916680" "72916680" "subst" "0" "00000" "USH1G_000067" "g.72916680A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.74920585A>G" "" "likely pathogenic" "" "0000759980" "0" "50" "17" "72916621" "72916621" "subst" "0.000142205" "00000" "USH1G_000030" "g.72916621T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.74920526T>C" "" "VUS" "" "0000764163" "3" "90" "17" "72916189" "72916189" "subst" "2.94298E-5" "02404" "USH1G_000053" "g.72916189G>A" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000765237" "3" "70" "17" "72915620" "72915620" "del" "0" "00000" "USH1G_000068" "g.72915620del" "" "{PMID:Neuhaus 2017:28944237}" "" "1311delG" "" "Germline" "" "" "0" "" "" "g.74919525del" "" "likely pathogenic" "" "0000765239" "3" "90" "17" "72915558" "72915558" "subst" "4.20165E-6" "00000" "USH1G_000006" "g.72915558T>A" "" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germline" "" "rs397517925" "0" "" "" "g.74919463T>A" "" "pathogenic" "" "0000785450" "3" "90" "17" "72919117" "72919117" "subst" "0" "00000" "USH1G_000025" "g.72919117T>A" "" "{PMID:Riahi 2015:25798947}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74923022T>A" "" "pathogenic (recessive)" "" "0000785451" "3" "90" "17" "72915739" "72915740" "del" "0" "00000" "USH1G_000069" "g.72915739_72915740del" "" "{PMID:Riahi 2015:25798947}" "" "1195_1196delAG" "" "Germline" "" "" "0" "" "" "g.74919644_74919645del" "" "pathogenic (recessive)" "" "0000785568" "0" "50" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "" "{PMID:Liu 2015:25611614}" "" "c.1246C>T" "variant found in controls" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000788464" "0" "50" "17" "72916678" "72916678" "subst" "0" "00000" "USH1G_000070" "g.72916678C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G253A" "" "Germline" "" "" "0" "" "" "g.74920583C>T" "" "VUS" "" "0000808246" "0" "30" "17" "72914191" "72914191" "subst" "0.00037513" "02330" "USH1G_000071" "g.72914191A>T" "" "" "" "USH1G(NM_173477.5):c.1383-20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808247" "0" "50" "17" "72916700" "72916700" "subst" "6.50015E-5" "01943" "OTOP2_000009" "g.72916700G>C" "" "" "" "USH1G(NM_173477.4):c.231C>G (p.H77Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000816939" "21" "90" "17" "72916131" "72916131" "subst" "0" "02416" "USH1G_000057" "g.72916131C>T" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000819325" "1" "70" "17" "72919089" "72919089" "dup" "0" "00000" "USH1G_000011" "g.72919089dup" "" "{PMID:Weisschuh 2020:32531858}" "" "USH1G, variant 1: c.84dup/p.D29Rfs*29, variant 2: c.84dup/p.D29Rfs*29" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.74922994dup" "" "likely pathogenic" "" "0000819512" "1" "70" "17" "72916723" "72916724" "ins" "0" "00000" "USH1G_000072" "g.72916723_72916724insAG" "" "{PMID:Weisschuh 2020:32531858}" "" "USH1G, variant 1: c.208_209insTC/p.H70Lfs*26, variant 2: c.208_209insTC/p.H70Lfs*26" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.74920628_74920629insAG" "" "likely pathogenic" "" "0000819513" "1" "70" "17" "72916723" "72916724" "ins" "0" "00000" "USH1G_000072" "g.72916723_72916724insAG" "" "{PMID:Weisschuh 2020:32531858}" "" "USH1G, variant 1: c.208_209insTC/p.H70Lfs*26, variant 2: c.208_209insTC/p.H70Lfs*26" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.74920628_74920629insAG" "" "likely pathogenic" "" "0000829480" "3" "70" "17" "72919056" "72919056" "subst" "0" "00000" "USH1G_000007" "g.72919056C>T" "" "{PMID:Wafa-2021:33089500}" "" "USH1G:c.113G>A,p.W38X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000847535" "3" "70" "17" "72915744" "72915744" "subst" "0" "00000" "USH1G_000073" "g.72915744A>T" "" "{PMID:Desposito 2019:31566003}" "" "USH1G c.1187T>A, p.Leu396Gln" "homozygous" "Germline" "yes" "" "0" "" "" "g.74919649A>T" "" "likely pathogenic" "" "0000865484" "0" "30" "17" "72915959" "72915959" "subst" "2.44155E-5" "01943" "OTOP2_000010" "g.72915959A>G" "" "" "" "USH1G(NM_173477.4):c.972T>C (p.S324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865485" "0" "50" "17" "72916498" "72916498" "subst" "4.48756E-5" "01943" "OTOP2_000011" "g.72916498G>A" "" "" "" "USH1G(NM_173477.4):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865486" "0" "50" "17" "72919053" "72919053" "subst" "0" "01943" "OTOP2_000012" "g.72919053G>A" "" "" "" "USH1G(NM_173477.4):c.116C>T (p.A39V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000904889" "3" "70" "17" "72915636" "72915645" "dup" "0" "00006" "USH1G_000074" "g.72915636_72915645dup" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "reported as candidate disease gene" "Germline" "" "" "0" "" "" "g.74919541_74919550dup" "" "VUS" "" "0000944268" "3" "90" "17" "72916420" "72916420" "subst" "4.13801E-6" "00006" "USH1G_000066" "g.72916420C>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.74920325C>A" "" "pathogenic (recessive)" "ACMG" "0000944269" "3" "90" "17" "72916122" "72916122" "del" "0" "00006" "USH1G_000075" "g.72916122del" "" "{PMID:Richard 2019: 30303587}" "" "812delC" "" "Germline" "" "" "0" "" "" "g.74920027del" "" "pathogenic (recessive)" "ACMG" "0000944326" "3" "70" "17" "72919000" "72919000" "subst" "6.75493E-6" "00006" "USH1G_000064" "g.72919000C>T" "" "{PMID:Chen 2021:34956325}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.74922905C>T" "" "VUS" "" "0000944522" "3" "90" "17" "72918993" "72919007" "del" "0" "00006" "USH1G_000008" "g.72918993_72919007del" "" "{PMID:Bashir 2010:20811388}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.74922898_74922912del" "" "pathogenic (recessive)" "" "0000958772" "3" "70" "17" "72916621" "72916621" "subst" "0.000142205" "00006" "USH1G_000030" "g.72916621T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_MODERATE, PP5_STRONG" "Germline" "" "" "0" "" "" "g.74920526T>C" "166402" "likely pathogenic (recessive)" "ACMG" "0000960162" "0" "90" "17" "72919000" "72919000" "subst" "6.75493E-6" "00006" "USH1G_000064" "g.72919000C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2_P, PM3_M" "Germline/De novo (untested)" "" "" "0" "" "" "g.74922905C>T" "" "VUS" "ACMG" "0000972018" "3" "50" "17" "72919147" "72919147" "subst" "9.5584E-6" "04656" "USH1G_000076" "g.72919147C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.74923052C>G" "" "VUS" "" "0000982781" "0" "30" "17" "72916253" "72916253" "subst" "0.00034318" "02330" "USH1G_000016" "g.72916253G>T" "" "" "" "USH1G(NM_173477.5):c.678C>A (p.G226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes USH1G ## Count = 141 "{{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}}" "0000256215" "00022438" "50" "392" "0" "392" "0" "c.392T>G" "r.(?)" "p.(Leu131Arg)" "" "" "0000256293" "00022438" "50" "320" "0" "320" "0" "c.320T>C" "r.(?)" "p.(Met107Thr)" "" "" "0000304889" "00022438" "50" "-4183" "0" "-4183" "0" "c.-4183C>T" "r.(?)" "p.(=)" "" "" "0000304890" "00022438" "30" "-1607" "0" "-1607" "0" "c.-1607C>T" "r.(?)" "p.(=)" "" "" "0000311147" "00022438" "10" "164" "12" "164" "12" "c.164+12C>A" "r.(=)" "p.(=)" "" "" "0000311148" "00022438" "10" "510" "0" "510" "0" "c.510C>G" "r.(?)" "p.(Ala170=)" "" "" "0000311149" "00022438" "30" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Arg189Gln)" "" "" "0000311150" "00022438" "10" "756" "0" "756" "0" "c.756C>T" "r.(?)" "p.(Asp252=)" "" "" "0000311151" "00022438" "50" "837" "0" "837" "0" "c.837C>G" "r.(?)" "p.(Asp279Glu)" "" "" "0000319360" "00022438" "50" "1258" "0" "1258" "0" "c.1258C>G" "r.(?)" "p.(Leu420Val)" "" "" "0000319361" "00022438" "30" "501" "0" "501" "0" "c.501C>G" "r.(?)" "p.(Arg167=)" "" "" "0000319362" "00022438" "30" "510" "0" "510" "0" "c.510C>G" "r.(?)" "p.(Ala170=)" "" "" "0000319363" "00022438" "30" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Arg189Gln)" "" "" "0000319364" "00022438" "30" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(Glu235=)" "" "" "0000319365" "00022438" "50" "837" "0" "837" "0" "c.837C>G" "r.(?)" "p.(Asp279Glu)" "" "" "0000347160" "00022438" "50" "1258" "0" "1258" "0" "c.1258C>G" "r.(?)" "p.(Leu420Val)" "" "" "0000348348" "00022438" "50" "83" "0" "83" "0" "c.83C>T" "r.(?)" "p.(Pro28Leu)" "" "" "0000367038" "00022438" "99" "-190" "-1" "3378" "1" "c.-190-?_*1992+?del" "r.0?" "p.0?" "_1_3_" "" "0000367039" "00022438" "75" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Arg10Trp)" "1" "" "0000367040" "00022438" "95" "46" "0" "46" "0" "c.46C>G" "r.(?)" "p.(Leu16Val)" "1" "" "0000367042" "00022438" "13" "83" "0" "83" "0" "c.83C>T" "r.(?)" "p.(Pro28Leu)" "1" "" "0000367043" "00022438" "99" "84" "0" "84" "0" "c.84dup" "r.(?)" "p.(Asp29Argfs*29)" "1" "" "0000367044" "00022438" "99" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Trp38*)" "1" "Ankyrin repeat 1 (31-60)" "0000367045" "00022438" "99" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Trp38*)" "1" "Ankyrin repeat 1 (31-60)" "0000367046" "00022438" "99" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Trp38*)" "1" "Ankyrin repeat 1 (31-60)" "0000367047" "00022438" "99" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Trp38*)" "1" "Ankyrin repeat 1 (31-60)" "0000367048" "00022438" "99" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Trp38*)" "1" "Ankyrin repeat 1 (31-60)" "0000367049" "00022438" "99" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Trp38*)" "1" "Ankyrin repeat 1 (31-60)" "0000367050" "00022438" "99" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Trp38*)" "1" "Ankyrin repeat 1 (31-60)" "0000367051" "00022438" "99" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Pro)" "1" "Ankyrin repeat 1 (31-60)" "0000367052" "00022438" "99" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Pro)" "1" "Ankyrin repeat 1 (31-60)" "0000367053" "00022438" "99" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Pro)" "1" "Ankyrin repeat 1 (31-60)" "0000367054" "00022438" "99" "163" "0" "164" "13" "c.163_164+13del" "r.spl" "p.?" "1_1i" "" "0000367055" "00022438" "99" "163" "0" "164" "13" "c.163_164+13del" "r.spl" "p.?" "1_1i" "" "0000367056" "00022438" "99" "163" "0" "164" "13" "c.163_164+13del" "r.spl" "p.?" "1_1i" "" "0000367057" "00022438" "99" "163" "0" "164" "13" "c.163_164+13del" "r.spl" "p.?" "1_1i" "" "0000367058" "00022438" "13" "164" "118" "164" "118" "c.164+118G>A" "r.(=)" "p.(=)" "1i" "" "0000367059" "00022438" "13" "164" "118" "164" "118" "c.164+118G>A" "r.(=)" "p.(=)" "1i" "" "0000367060" "00022438" "99" "186" "0" "187" "0" "c.186_187del" "r.(?)" "p.(Ile63Leufs*71)" "2" "" "0000367061" "00022438" "99" "186" "0" "187" "0" "c.186_187del" "r.(?)" "p.(Ile63Leufs*71)" "2" "" "0000367062" "00022438" "99" "186" "0" "187" "0" "c.186_187del" "r.(?)" "p.(Ile63Leufs*71)" "2" "" "0000367063" "00022438" "99" "206" "0" "207" "0" "c.206_207insC" "r.(?)" "p.(His70Alafs*65)" "2" "Ankyrin repeat 2 (64-93)" "0000367064" "00022438" "75" "310" "0" "310" "0" "c.310A>G" "r.(?)" "p.(Met104Val)" "2" "Ankyrin repeat 3 (97-126)" "0000367065" "00022438" "99" "387" "0" "387" "0" "c.387dup" "r.(?)" "p.(Lys130Glnfs*5)" "2" "Central (127-384)" "0000367066" "00022438" "99" "387" "0" "387" "0" "c.387dup" "r.(?)" "p.(Lys130Glnfs*5)" "2" "Central (127-384)" "0000367067" "00022438" "11" "388" "0" "388" "0" "c.388A>G" "r.(?)" "p.(Lys130Glu)" "2" "Central (127-384)" "0000367068" "00022438" "11" "388" "0" "388" "0" "c.388A>G" "r.(?)" "p.(Lys130Glu)" "2" "Central (127-384)" "0000367069" "00022438" "11" "388" "0" "388" "0" "c.388A>G" "r.(?)" "p.(Lys130Glu)" "2" "Central (127-384)" "0000367070" "00022438" "99" "394" "0" "394" "0" "c.394dup" "r.(?)" "p.(Val132Glyfs*3)" "2" "Central (127-384)" "0000367071" "00022438" "99" "394" "0" "394" "0" "c.394dup" "r.(?)" "p.(Val132Glyfs*3)" "2" "Central (127-384)" "0000367072" "00022438" "99" "394" "0" "394" "0" "c.394dup" "r.(?)" "p.(Val132Glyfs*3)" "2" "Central (127-384)" "0000367073" "00022438" "99" "394" "0" "394" "0" "c.394dup" "r.(?)" "p.(Val132Glyfs*3)" "2" "Central (127-384)" "0000367074" "00022438" "99" "394" "0" "394" "0" "c.394dup" "r.(?)" "p.(Val132Glyfs*3)" "2" "Central (127-384)" "0000367075" "00022438" "99" "394" "0" "394" "0" "c.394dup" "r.(?)" "p.(Val132Glyfs*3)" "2" "Central (127-384)" "0000367076" "00022438" "99" "394" "0" "394" "0" "c.394dup" "r.(?)" "p.(Val132Glyfs*3)" "2" "Central (127-384)" "0000367077" "00022438" "99" "394" "0" "394" "0" "c.394dup" "r.(?)" "p.(Val132Glyfs*3)" "2" "Central (127-384)" "0000367078" "00022438" "13" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Glu142Lys)" "2" "Central (127-384)" "0000367079" "00022438" "13" "501" "0" "501" "0" "c.501C>G" "r.(?)" "p.(=)" "2" "Central (127-384)" "0000367080" "00022438" "13" "678" "0" "678" "0" "c.678C>A" "r.(?)" "p.(=)" "2" "Central (127-384)" "0000367081" "00022438" "11" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(=)" "2" "Central (127-384)" "0000367082" "00022438" "11" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(=)" "2" "Central (127-384)" "0000367083" "00022438" "11" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(=)" "2" "Central (127-384)" "0000367085" "00022438" "99" "728" "0" "728" "0" "c.728C>A" "r.(?)" "p.(Ser243*)" "2" "Central (127-384)" "0000367086" "00022438" "99" "728" "0" "728" "0" "c.728C>A" "r.(?)" "p.(Ser243*)" "2" "Central (127-384)" "0000367087" "00022438" "99" "728" "0" "728" "0" "c.728C>A" "r.(?)" "p.(Ser243*)" "2" "Central (127-384)" "0000367088" "00022438" "99" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Gln248*)" "2" "Central (127-384)" "0000367089" "00022438" "99" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Gln248*)" "2" "Central (127-384)" "0000367090" "00022438" "99" "780" "0" "781" "0" "c.780_781insGCAC" "r.(?)" "p.(Tyr261Alafs*96)" "2" "Central (127-384)" "0000367091" "00022438" "99" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Trp267*)" "2" "Central (127-384)" "0000367092" "00022438" "97" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269*)" "2" "Central (127-384)" "0000367093" "00022438" "99" "832" "0" "851" "0" "c.832_851del" "r.(?)" "p.(Ser278Profs*71)" "2" "Central (127-384)" "0000367094" "00022438" "99" "832" "0" "851" "0" "c.832_851del" "r.(?)" "p.(Ser278Profs*71)" "2" "Central (127-384)" "0000367095" "00022438" "99" "832" "0" "851" "0" "c.832_851del" "r.(?)" "p.(Ser278Profs*71)" "2" "Central (127-384)" "0000367096" "00022438" "13" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(=)" "2" "Central (127-384)" "0000367097" "00022438" "95" "1188" "0" "1190" "0" "c.1188_1190del" "r.(?)" "p.(Ala397del)" "2" "SAM (385-447)" "0000367098" "00022438" "13" "1258" "0" "1258" "0" "c.1258C>G" "r.(?)" "p.(Leu420Val)" "2" "SAM (385-447)" "0000367099" "00022438" "75" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Arg447Trp)" "2" "SAM (385-447)" "0000367100" "00022438" "99" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Asp458Val)" "2" "" "0000367101" "00022438" "99" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Asp458Val)" "2" "" "0000367102" "00022438" "99" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Asp458Val)" "2" "" "0000367103" "00022438" "99" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Asp458Val)" "2" "" "0000367104" "00022438" "99" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Asp458Val)" "2" "" "0000367105" "00022438" "99" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Asp458Val)" "2" "" "0000367106" "00022438" "13" "1383" "-63" "1383" "-63" "c.1383-63T>A" "r.(=)" "p.(=)" "2i" "" "0000367107" "00022438" "99" "1383" "-1" "3378" "1" "c.1383-?_*1992+?del" "r.?" "p.?" "2i_3_" "" "0000367108" "00022438" "13" "1450" "0" "1450" "0" "c.*64G>A" "r.(=)" "p.(=)" "3" "" "0000367109" "00022438" "13" "1601" "0" "1601" "0" "c.*215T>C" "r.(=)" "p.(=)" "3" "" "0000367110" "00022438" "13" "2549" "0" "2550" "0" "c.*1163_*1164del" "r.(=)" "p.(=)" "3" "" "0000367111" "00022438" "13" "2549" "0" "2550" "0" "c.*1163_*1164del" "r.(=)" "p.(=)" "3" "" "0000367112" "00022438" "11" "3045" "0" "3045" "0" "c.*1659T>C" "r.(=)" "p.(=)" "3" "" "0000562973" "00022438" "30" "1399" "0" "1399" "0" "c.*13C>T" "r.(=)" "p.(=)" "" "" "0000562974" "00022438" "30" "1383" "-4" "1383" "-4" "c.1383-4A>G" "r.spl?" "p.?" "" "" "0000562975" "00022438" "50" "1060" "0" "1060" "0" "c.1060G>C" "r.(?)" "p.(Asp354His)" "" "" "0000562976" "00022438" "30" "1011" "0" "1011" "0" "c.1011T>G" "r.(?)" "p.(Asp337Glu)" "" "" "0000562977" "00022438" "30" "756" "0" "756" "0" "c.756C>T" "r.(?)" "p.(Asp252=)" "" "" "0000562978" "00022438" "50" "746" "0" "746" "0" "c.746T>A" "r.(?)" "p.(Leu249Gln)" "" "" "0000562979" "00022438" "10" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(Glu235=)" "" "" "0000562980" "00022438" "10" "501" "0" "501" "0" "c.501C>G" "r.(?)" "p.(Arg167=)" "" "" "0000562981" "00022438" "50" "310" "0" "310" "0" "c.310A>G" "r.(?)" "p.(Met104Val)" "" "" "0000562982" "00022438" "70" "310" "0" "310" "0" "c.310A>G" "r.(?)" "p.(Met104Val)" "" "" "0000562983" "00022438" "10" "117" "0" "117" "0" "c.117T>G" "r.(?)" "p.(Ala39=)" "" "" "0000616803" "00022438" "50" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Arg189Gln)" "" "" "0000616804" "00022438" "90" "186" "0" "187" "0" "c.186_187del" "r.(?)" "p.(Ile63LeufsTer71)" "" "" "0000623761" "00022438" "50" "635" "0" "635" "0" "c.635G>C" "r.(?)" "p.(Gly212Ala)" "" "" "0000681004" "00022438" "50" "83" "0" "83" "0" "c.83C>T" "r.(?)" "p.(Pro28Leu)" "" "" "0000685511" "00022438" "90" "205" "0" "205" "0" "c.205dup" "r.(?)" "p.(Leu69Profs*66)" "" "" "0000685665" "00022438" "50" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Leu399Pro)" "" "" "0000685670" "00022438" "90" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269*)" "" "" "0000704525" "00022438" "90" "977" "0" "986" "0" "c.977_986dup" "r.(?)" "p.(Gly330Alafs*29)" "" "" "0000704526" "00022438" "90" "977" "0" "986" "0" "c.977_986dup" "r.(?)" "p.(Gly330Alafs*29)" "" "" "0000712159" "00022438" "50" "49" "0" "51" "0" "c.49_51del" "r.(?)" "p.(Leu17del)" "" "" "0000714081" "00022438" "70" "511" "0" "511" "0" "c.511G>T" "r.(?)" "p.(Glu171*)" "" "" "0000733257" "00022438" "70" "251" "0" "251" "0" "c.251T>C" "r.(?)" "p.(Leu84Pro)" "" "" "0000759980" "00022438" "50" "310" "0" "310" "0" "c.310A>G" "r.(?)" "p.(Met104Val)" "" "" "0000764163" "00022438" "90" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Gln248*)" "2" "" "0000765237" "00022438" "70" "1311" "0" "1311" "0" "c.1311del" "r.(?)" "p.(Lys438Argfs*6)" "" "" "0000765239" "00022438" "90" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Asp458Val)" "" "" "0000785450" "00022438" "90" "52" "0" "52" "0" "c.52A>T" "r.(?)" "p.(Lys18Ter)" "" "" "0000785451" "00022438" "90" "1195" "0" "1196" "0" "c.1195_1196del" "r.(?)" "p.(Leu399AlafsTer24)" "" "" "0000785568" "00022438" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "0000788464" "00022438" "50" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Val85Met)" "2" "" "0000808246" "00022438" "30" "1383" "-20" "1383" "-20" "c.1383-20T>A" "r.(=)" "p.(=)" "" "" "0000808247" "00022438" "50" "231" "0" "231" "0" "c.231C>G" "r.(?)" "p.(His77Gln)" "" "" "0000816939" "00022438" "90" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Trp267Ter)" "" "" "0000819325" "00022438" "70" "84" "0" "84" "0" "c.84dup" "r.(?)" "p.(Asp29Argfs*29)" "" "" "0000819512" "00022438" "70" "208" "0" "209" "0" "c.208_209insTC" "r.(?)" "p.(His70Leufs*26)" "" "" "0000819513" "00022438" "70" "208" "0" "209" "0" "c.208_209insTC" "r.(?)" "p.(His70Leufs*26)" "" "" "0000829480" "00022438" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Trp38*)" "1" "" "0000847535" "00022438" "70" "1187" "0" "1187" "0" "c.1187T>A" "r.(?)" "p.(Leu396Gln)" "2" "" "0000865484" "00022438" "30" "972" "0" "972" "0" "c.972T>C" "r.(?)" "p.(Ser324=)" "" "" "0000865485" "00022438" "50" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Trp)" "" "" "0000865486" "00022438" "50" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Ala39Val)" "" "" "0000904889" "00022438" "70" "1286" "0" "1295" "0" "c.1286_1295dup" "r.(?)" "p.(Leu433GlnfsTer109)" "" "" "0000944268" "00022438" "90" "511" "0" "511" "0" "c.511G>T" "r.(?)" "p.(Glu171Ter)" "" "" "0000944269" "00022438" "90" "812" "0" "812" "0" "c.812del" "r.(?)" "p.(Pro271ArgfsTer52)" "" "" "0000944326" "00022438" "70" "164" "5" "164" "5" "c.164+5G>A" "r.154_164del" "p.?" "" "" "0000944522" "00022438" "90" "163" "0" "164" "13" "c.163_164+13del" "r.?" "p.(Gly55GlyfsX56)*" "" "" "0000958772" "00022438" "70" "310" "0" "310" "0" "c.310A>G" "r.(?)" "p.(Met104Val)" "" "" "0000960162" "00022438" "90" "164" "5" "164" "5" "c.164+5G>A" "r.spl?" "p.?" "" "" "0000972018" "00022438" "50" "22" "0" "22" "0" "c.22G>C" "r.(?)" "p.(Ala8Pro)" "1" "" "0000982781" "00022438" "30" "678" "0" "678" "0" "c.678C>A" "r.(?)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 103 "{{screeningid}}" "{{variantid}}" "0000163991" "0000367038" "0000163992" "0000367039" "0000163993" "0000367040" "0000163995" "0000367042" "0000163996" "0000367043" "0000163997" "0000367044" "0000163998" "0000367045" "0000163999" "0000367046" "0000164000" "0000367047" "0000164001" "0000367048" "0000164002" "0000367049" "0000164003" "0000367050" "0000164003" "0000367107" "0000164004" "0000367051" "0000164004" "0000367060" "0000164005" "0000367052" "0000164005" "0000367061" "0000164006" "0000367053" "0000164006" "0000367062" "0000164007" "0000367054" "0000164008" "0000367055" "0000164009" "0000367056" "0000164010" "0000367057" "0000164011" "0000367058" "0000164012" "0000367059" "0000164012" "0000367069" "0000164012" "0000367110" "0000164012" "0000367112" "0000164013" "0000367063" "0000164014" "0000367064" "0000164014" "0000367090" "0000164015" "0000367065" "0000164015" "0000367066" "0000164016" "0000367067" "0000164016" "0000367078" "0000164017" "0000367068" "0000164017" "0000367109" "0000164018" "0000367070" "0000164019" "0000367071" "0000164020" "0000367072" "0000164021" "0000367073" "0000164022" "0000367074" "0000164023" "0000367075" "0000164024" "0000367076" "0000164025" "0000367077" "0000164026" "0000367079" "0000164027" "0000367080" "0000164028" "0000367081" "0000164029" "0000367082" "0000164030" "0000367083" "0000164032" "0000367085" "0000164033" "0000367086" "0000164034" "0000367087" "0000164035" "0000367088" "0000164035" "0000367089" "0000164036" "0000367091" "0000164037" "0000367092" "0000164038" "0000367093" "0000164039" "0000367094" "0000164040" "0000367095" "0000164041" "0000367096" "0000164042" "0000367097" "0000164043" "0000367098" "0000164044" "0000367099" "0000164045" "0000367100" "0000164046" "0000367101" "0000164047" "0000367102" "0000164048" "0000367103" "0000164049" "0000367104" "0000164050" "0000367105" "0000164051" "0000367106" "0000164052" "0000367108" "0000164053" "0000367111" "0000310600" "0000685511" "0000310717" "0000685665" "0000310722" "0000685670" "0000321614" "0000704525" "0000321615" "0000704526" "0000328228" "0000712159" "0000328228" "0000960162" "0000329724" "0000714081" "0000335248" "0000733257" "0000360186" "0000759980" "0000363478" "0000764163" "0000364457" "0000765237" "0000364459" "0000765239" "0000374637" "0000785450" "0000374638" "0000785451" "0000374743" "0000785568" "0000376624" "0000788464" "0000388396" "0000816939" "0000389980" "0000819325" "0000390167" "0000819512" "0000390168" "0000819513" "0000397482" "0000829480" "0000410259" "0000847535" "0000427513" "0000904889" "0000442941" "0000944268" "0000442942" "0000944269" "0000442967" "0000944326" "0000443140" "0000944522" "0000449005" "0000958772" "0000450086" "0000972018"