### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = USH2A) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "USH2A" "Usher syndrome 2A (autosomal recessive, mild)" "1" "q41" "unknown" "NC_000001.10" "UD_132118940851" "" "" "" "1" "1" "12601" "7399" "608400" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:01:47" "" "" "00000" "2013-11-26 22:01:47" "" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "{{iNote}}" "{{chrom}}" "00003116" "USH2A" "transcript variant 1" "002" "NM_007123.5" "" "NP_009054.5" "" "" "" "-387" "5933" "4641" "216347288" "216596738" "00000" "2013-11-26 22:01:47" "" "" "" "1" "00003348" "USH2A" "transcript variant 2" "001" "NM_206933.2" "" "NP_996816.2" "" "" "" "-387" "18496" "15609" "215796236" "216596738" "00000" "2014-09-16 10:44:14" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00160" "500004" "RETINITIS PIGMENTOSA-DEAFNESS SYNDROME " "500004" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "USH2A" "00160" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 134 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000110" "0" "99" "1" "215813957" "215813957" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:03:26" "USH2A_000052" "g.215813957G>A" "" "{PMID:18665195:18665195};{PMID:22135276:22135276}" "" "rs397517994" "subst" "0" "; clinvar;" "5.600" "" "" "" "" "MSCV_0000110" "" "0000000111" "0" "77" "1" "215823990" "215823990" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-11-25 05:18:54" "USH2A_000053" "g.215823990C>T" "" "{PMID:20507924:20507924}" "" "rs397517990" "subst" "0" "; clinvar;" "5.740" "" "" "" "" "MSCV_0000111" "" "0000000112" "0" "99" "1" "215824097" "215824097" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:03:29" "USH2A_000054" "g.215824097C>T" "" "" "" "rs397517989" "subst" "0" "; clinvar;" "4.630" "" "" "" "" "MSCV_0000112" "" "0000000113" "0" "99" "1" "215844415" "215844416" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:03:31" "USH2A_000055" "g.215844415_215844416insT" "" "" "" "rs397517988" "ins" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000113" "" "0000000114" "0" "77" "1" "215847940" "215847940" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:03:32" "USH2A_000056" "g.215847940C>T" "" "" "" "rs111033417" "subst" "0" "; clinVar; Ensembl;" "4.670" "" "" "" "" "MSCV_0000114" "" "0000000115" "0" "77" "1" "215848123" "215848123" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:03:34" "USH2A_000057" "g.215848123G>T" "" "" "" "rs111033385" "subst" "0" "; clinVar; Ensembl;" "3.120" "" "" "" "" "MSCV_0000115" "" "0000000116" "0" "99" "1" "215848385" "215848385" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-02-05 19:02:03" "USH2A_000058" "g.215848385G>A" "" "" "" "rs397517983" "subst" "0" "; clinvar;" "5.240" "" "" "" "" "MSCV_0000116" "" "0000000117" "0" "77" "1" "215848514" "215848514" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:03:37" "USH2A_000059" "g.215848514C>T" "" "" "" "rs397517982" "subst" "0" "; clinvar;" "4.340" "" "" "" "" "MSCV_0000117" "" "0000000118" "0" "99" "1" "215848539" "215848539" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:02:22" "USH2A_000047" "g.215848539A>C" "" "" "" "rs397517981" "subst" "0" "; clinvar;" "-0.032" "" "" "" "" "MSCV_0000118" "" "0000000119" "0" "99" "1" "215848960" "215848960" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:02:25" "USH2A_000048" "g.215848960T>C" "" "" "" "" "subst" "0" "; clinvar;" "4.960" "" "" "" "" "MSCV_0000119" "" "0000000120" "0" "77" "1" "215853490" "215853490" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:02:27" "USH2A_000049" "g.215853490C>G" "" "" "" "rs111033526" "subst" "0" "; clinVar; Ensembl;" "5.160" "" "" "" "" "MSCV_0000120" "" "0000000121" "0" "99" "1" "215853719" "215853719" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:02:30" "USH2A_000050" "g.215853719C>G" "" "" "" "rs397517977" "subst" "0" "; clinvar;" "5.260" "" "" "" "" "MSCV_0000121" "" "0000000122" "0" "99" "1" "215853720" "215853720" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:02:32" "USH2A_000051" "g.215853720T>C" "" "{PMID:18452394:18452394};{PMID:22004887:22004887};{PMID:18641288:18641288}" "" "rs397517978" "subst" "0" "; clinvar;" "5.260" "" "" "" "" "MSCV_0000122" "" "0000000123" "0" "99" "1" "215901484" "215901484" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:16" "USH2A_000001" "g.215901484C>T" "" "" "" "rs397517976" "subst" "0" "; clinvar;" "5.530" "" "" "" "" "MSCV_0000123" "" "0000000124" "0" "99" "1" "215901574" "215901574" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-01 08:15:24" "USH2A_000002" "g.215901574C>T" "" "{PMID:18273898:18273898};{PMID:18463160:18463160};{PMID:15015129:15015129};{PMID:16963483:16963483};{PMID:19683999:19683999}" "" "rs111033364" "subst" "0" "; clinVar; Ensembl;" "5.530" "" "" "" "" "MSCV_0000124" "" "0000000125" "0" "99" "1" "215916656" "215916656" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-08-09 00:46:48" "USH2A_000003" "g.215916656del" "" "" "" "rs397517973" "del" "0" "; clinvar;" "4.940" "" "" "" "" "MSCV_0000125" "" "0000000126" "0" "77" "1" "215933001" "215933001" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:21" "USH2A_000004" "g.215933001C>A" "" "" "" "rs111033382" "subst" "0" "; clinVar; Ensembl;" "5.500" "" "" "" "" "MSCV_0000126" "" "0000000127" "0" "99" "1" "215933186" "215933186" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:23" "USH2A_000005" "g.215933186C>T" "" "" "" "rs111033414" "subst" "0" "; clinVar; Ensembl;" "4.330" "" "" "" "" "MSCV_0000127" "" "0000000128" "0" "77" "1" "215953365" "215953365" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:25" "USH2A_000006" "g.215953365G>A" "" "" "" "rs111033418" "subst" "0" "; clinVar; Ensembl;" "6.010" "" "" "" "" "MSCV_0000128" "" "0000000129" "0" "77" "1" "215955400" "215955400" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:27" "USH2A_000007" "g.215955400C>T" "" "" "" "rs111033265" "subst" "0" "; clinVar; Ensembl;" "5.660" "" "" "" "" "MSCV_0000129" "" "0000000130" "0" "77" "1" "215955412" "215955412" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:29" "USH2A_000008" "g.215955412G>A" "" "{PMID:21909055:21909055};{PMID:17085681:17085681};{PMID:17405132:17405132};{PMID:21569298:21569298};{PMID:19683999:19683999};{PMID:19737284:19737284}" "" "rs202175091" "subst" "0" "; clinvar;" "4.500" "" "" "" "" "MSCV_0000130" "" "0000000131" "0" "99" "1" "215956104" "215956104" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:31" "USH2A_000009" "g.215956104A>G" "" "{PMID:20507924:20507924};{PMID:18273898:18273898}" "" "rs111033264" "subst" "0" "; clinVar; Ensembl;" "4.280" "" "" "" "" "MSCV_0000131" "" "0000000132" "0" "77" "1" "215956215" "215956215" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:32" "USH2A_000010" "g.215956215G>A" "" "" "" "rs111033379" "subst" "0" "; clinVar; Ensembl;" "3.230" "" "" "" "" "MSCV_0000132" "" "0000000133" "0" "99" "1" "215960208" "215960209" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:34" "USH2A_000011" "g.215960208_215960209del" "" "{PMID:18641288:18641288};{PMID:20507924:20507924}" "" "rs397517964" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000133" "" "0000000134" "0" "77" "1" "215972408" "215972408" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-03-09 21:52:34" "USH2A_000012" "g.215972408A>G" "" "{PMID:17085681:17085681}" "" "rs111033263" "subst" "0" "; clinVar; Ensembl;" "5.810" "" "" "" "" "MSCV_0000134" "" "0000000135" "0" "99" "1" "215990450" "215990450" "subst" "35" "0.00476776" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 16:00:09" "USH2A_000013" "g.215990450G>A" "" "{PMID:22135276:22135276}" "" "rs73090721" "subst" "0" "; clinvar;" "3.380" "" "" "" "" "MSCV_0000135" "" "0000000136" "0" "99" "1" "215990450" "215990450" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:39" "USH2A_000014" "g.215990450G>T" "" "{PMID:22135276:22135276}" "" "rs73090721" "subst" "0" "; clinvar;" "3.380" "" "" "" "" "MSCV_0000136" "" "0000000137" "0" "99" "1" "215990485" "215990485" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:44:41" "USH2A_000015" "g.215990485C>A" "" "{PMID:18641288:18641288};{PMID:20507924:20507924};{PMID:17405132:17405132}" "" "rs397518048" "subst" "0" "; clinvar;" "4.350" "" "" "" "" "MSCV_0000137" "" "0000000138" "0" "99" "1" "216011332" "216011332" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:06:27" "USH2A_000063" "g.216011332C>G" "" "" "" "rs41308425" "subst" "0" "; clinvar;" "5.010" "" "" "" "" "MSCV_0000138" "" "0000000139" "0" "99" "1" "216011400" "216011400" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:59:17" "USH2A_000041" "g.216011400G>A" "" "" "" "rs397518046" "subst" "0" "; clinvar;" "4.060" "" "" "" "" "MSCV_0000139" "" "0000000140" "0" "99" "1" "216017735" "216017735" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:59:20" "USH2A_000042" "g.216017735A>C" "" "" "" "rs397518042" "subst" "0" "; clinvar;" "2.560" "" "" "" "" "MSCV_0000140" "" "0000000141" "0" "99" "1" "216019240" "216019240" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-09-06 08:39:23" "USH2A_000022" "g.216019240C>T" "" "{PMID:19881469:19881469}" "" "rs397518041" "subst" "0" "; clinvar;" "-5.000" "" "" "" "" "MSCV_0000141" "" "0000000142" "0" "99" "1" "216051224" "216051224" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:38" "USH2A_000023" "g.216051224T>C" "" "{PMID:19023448:19023448};{PMID:19737284:19737284};{PMID:20596040:20596040}" "" "rs397518039" "subst" "0" "; clinvar;" "5.900" "" "" "" "" "MSCV_0000142" "" "0000000143" "0" "77" "1" "216052233" "216052233" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:41" "USH2A_000024" "g.216052233G>T" "" "" "" "rs111033529" "subst" "0" "; clinVar; Ensembl;" "5.790" "" "" "" "" "MSCV_0000143" "" "0000000144" "0" "99" "1" "216108014" "216108014" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 11:06:04" "USH2A_000025" "g.216108014G>C" "" "" "" "rs397518029" "subst" "0" "; clinvar;" "5.140" "" "" "" "" "MSCV_0000144" "" "0000000145" "0" "77" "1" "216219796" "216219809" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 10:33:49" "USH2A_000064" "g.216219796_216219809del" "" "" "" "rs111033268" "del" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000145" "" "0000000146" "0" "99" "1" "216219874" "216219874" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 11:00:04" "USH2A_000029" "g.216219874C>T" "" "" "" "rs111033386" "subst" "0" "; clinVar; Ensembl;" "4.570" "" "" "" "" "MSCV_0000146" "" "0000000147" "0" "99" "1" "216243635" "216243635" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 10:35:28" "USH2A_000030" "g.216243635C>T" "" "" "" "rs397518023" "subst" "0" "; clinvar;" "5.570" "" "" "" "" "MSCV_0000147" "" "0000000148" "0" "99" "1" "216246229" "216246229" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 10:33:39" "USH2A_000031" "g.216246229A>G" "" "{PMID:18641288:18641288};{PMID:20507924:20507924}" "" "rs397518022" "subst" "0" "; clinvar;" "4.900" "" "" "" "" "MSCV_0000148" "" "0000000149" "0" "99" "1" "216246300" "216246300" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 10:48:53" "USH2A_000032" "g.216246300G>A" "" "" "" "rs397518021" "subst" "0" "; clinvar;" "3.960" "" "" "" "" "MSCV_0000149" "" "0000000150" "0" "77" "1" "216246634" "216246634" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-08 17:43:28" "USH2A_000033" "g.216246634C>T" "" "" "" "rs375668376" "subst" "0" "; clinvar;" "5.930" "" "" "" "" "MSCV_0000150" "" "0000000151" "0" "99" "1" "216258205" "216258206" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 10:35:34" "USH2A_000034" "g.216258205_216258206insT" "" "" "" "rs397518018" "ins" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000151" "" "0000000152" "0" "99" "1" "216363622" "216363623" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 12:02:01" "USH2A_000035" "g.216363622_216363623del" "" "{PMID:15325563:15325563};{PMID:10729113:10729113};{PMID:20613545:20613545};{PMID:18665195:18665195};{PMID:9624053:9624053}" "" "rs111033367" "del" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000152" "" "0000000153" "0" "55" "1" "216370011" "216370012" "ins" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 08:19:49" "USH2A_000036" "g.216370011_216370012insGA" "" "" "" "rs397518015" "ins" "0" ";" "" "" "" "" "" "MSCV_0000153" "" "0000000154" "0" "55" "1" "216370012" "216370013" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-28 09:33:46" "USH2A_000037" "g.216370012_216370013insGA" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000154" "" "0000000155" "0" "99" "1" "216373222" "216373222" "del" "35" "0.0000798722" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 12:07:16" "USH2A_000038" "g.216373222del" "" "{PMID:20613545:20613545}" "" "rs397518014" "del" "0" "; clinvar;" "-3.680" "" "" "" "" "MSCV_0000155" "" "0000000156" "0" "99" "1" "216373232" "216373233" "del" "35" "0.00167732" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:57:22" "USH2A_000039" "g.216373232_216373233del" "" "" "" "rs397518013" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000156" "" "0000000157" "0" "99" "1" "216373345" "216373345" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 12:00:31" "USH2A_000040" "g.216373345del" "" "" "" "rs397518012" "del" "0" "; clinvar;" "-6.640" "" "" "" "" "MSCV_0000157" "" "0000000158" "0" "99" "1" "216380622" "216380622" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-07-27 06:43:31" "USH2A_000016" "g.216380622G>T" "" "" "" "rs397518011" "subst" "0" "; clinvar;" "1.800" "" "" "" "" "MSCV_0000158" "" "0000000159" "0" "99" "1" "216405390" "216405390" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-07-08 03:36:36" "USH2A_000017" "g.216405390del" "" "{PMID:19683999:19683999};{PMID:15325563:15325563};{PMID:10729113:10729113};{PMID:9624053:9624053}" "" "rs397518008" "del" "0" "; clinvar;" "-11.900" "" "" "" "" "MSCV_0000159" "" "0000000160" "0" "99" "1" "216420437" "216420437" "del" "51" "0.00095862" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 08:19:49" "USH2A_000018" "g.216420437del" "" "{PMID:12112664:12112664};{PMID:14970843:14970843};{PMID:20301515:20301515};{PMID:10909849:10909849};{PMID:11402400:11402400};{PMID:10729113:10729113};{PMID:15025721:15025721}" "" "rs80338903" "del" "0" "; clinVar; Ensembl;" "2.370" "" "" "" "" "MSCV_0000160" "" "0000000161" "0" "99" "1" "216420460" "216420460" "subst" "51" "0.00153775" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-23 10:14:48" "USH2A_000019" "g.216420460C>A" "" "{PMID:10909849:10909849};{PMID:16098008:16098008};{PMID:17085681:17085681};{PMID:17405132:17405132};{PMID:18641288:18641288};{PMID:10775529:10775529};{PMID:21151602:21151602};{PMID:12525556:12525556};{PMID:14970843:14970843};{PMID:15325563:15325563};{PMID" "" "rs80338902" "subst" "0" "; clinVar; Ensembl;" "5.790" "" "" "" "" "MSCV_0000161" "" "0000000162" "0" "99" "1" "216420527" "216420527" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-23 10:14:48" "USH2A_000020" "g.216420527G>A" "" "{PMID:17296898:17296898};{PMID:18452394:18452394}" "" "rs111033334" "subst" "0" "; clinVar; Ensembl;" "3.590" "" "" "" "" "MSCV_0000162" "" "0000000163" "0" "99" "1" "216462754" "216462754" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:45:16" "USH2A_000021" "g.216462754T>C" "" "{PMID:18641288:18641288};{PMID:19683999:19683999};{PMID:12525556:12525556};{PMID:15823922:15823922};{PMID:20497194:20497194};{PMID:21487335:21487335};{PMID:21738395:21738395};{PMID:22004887:22004887}" "" "rs397518003" "subst" "0" "; clinvar;" "5.430" "" "" "" "" "MSCV_0000163" "" "0000000164" "0" "99" "1" "216495263" "216495263" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:46" "USH2A_000060" "g.216495263A>G" "" "{PMID:15043528:15043528};{PMID:10909849:10909849}" "" "rs111033273" "subst" "0" "; clinVar; Ensembl;" "5.650" "" "" "" "" "MSCV_0000164" "" "0000000165" "0" "99" "1" "216497582" "216497582" "subst" "35" "0.0000769231" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 12:02:55" "USH2A_000061" "g.216497582C>A" "" "{PMID:10729113:10729113};{PMID:15241801:15241801};{PMID:15015129:15015129};{PMID:15325563:15325563}" "" "rs121912600" "subst" "0" "; clinVar; Ensembl;" "5.420" "" "" "" "" "MSCV_0000165" "" "0000000166" "0" "77" "1" "216497611" "216497611" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-10-22 18:26:54" "USH2A_000062" "g.216497611C>G" "" "" "" "rs397517979" "subst" "0" "; clinvar;" "5.640" "" "" "" "" "MSCV_0000166" "" "0000000167" "0" "99" "1" "216498646" "216498646" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:59:38" "USH2A_000043" "g.216498646C>T" "" "" "" "rs397517974" "subst" "0" "; clinvar;" "4.450" "" "" "" "" "MSCV_0000167" "" "0000000168" "0" "77" "1" "216498754" "216498754" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-07-27 11:42:41" "USH2A_000044" "g.216498754T>G" "" "{PMID:10909849:10909849};{PMID:15025721:15025721};{PMID:17405132:17405132};{PMID:22681893:22681893};{PMID:10729113:10729113};{PMID:15241801:15241801}" "" "rs369522997" "subst" "0" "; clinvar;" "5.360" "" "" "" "" "MSCV_0000168" "" "0000000169" "0" "99" "1" "216498841" "216498841" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 08:45:25" "USH2A_000045" "g.216498841G>T" "" "{PMID:15325563:15325563};{PMID:18273898:18273898};{PMID:15015129:15015129};{PMID:15043528:15043528};{PMID:15241801:15241801}" "" "rs111033272" "subst" "0" "; clinVar; Ensembl;" "1.900" "" "" "" "" "MSCV_0000169" "" "0000000170" "0" "55" "1" "216498866" "216498867" "ins" "35" "0.000319489" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-08-30 09:20:23" "USH2A_000046" "g.216498866_216498867insTGGC" "" "{PMID:10729113:10729113};{PMID:10909849:10909849};{PMID:15025721:15025721};{PMID:18641288:18641288};{PMID:19683999:19683999};{PMID:14970843:14970843};{PMID:18273898:18273898};{PMID:15241801:15241801};{PMID:15325563:15325563};{PMID:11311042:11311042}" "" "rs397518043" "ins" "0" ";" "" "" "" "" "" "MSCV_0000170" "" "0000000171" "0" "55" "1" "216498869" "216498870" "ins" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 08:45:25" "USH2A_000026" "g.216498869_216498870insTGGC" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000171" "" "0000000172" "0" "99" "1" "216500961" "216500961" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-27 05:28:52" "USH2A_000027" "g.216500961G>A" "" "{PMID:22004887:22004887}" "" "rs397518036" "subst" "0" "; clinvar;" "4.850" "" "" "" "" "MSCV_0000172" "" "0000000173" "0" "77" "1" "216538426" "216538426" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-02-05 18:57:02" "USH2A_000028" "g.216538426A>T" "" "{PMID:17405132:17405132};{PMID:11311042:11311042};{PMID:20052763:20052763};{PMID:18281613:18281613}" "" "rs397518026" "subst" "0" "; clinvar;" "5.500" "" "" "" "" "MSCV_0000173" "" "0000015643" "0" "00" "1" "216347386" "216347389" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:03:43" "USH2A_000157" "g.216347386_216347389del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015643" "" "0000015644" "0" "33" "1" "216347452" "216347452" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-27 17:38:03" "USH2A_000127" "g.216347452C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015644" "" "0000015645" "0" "55" "1" "216347503" "216347503" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:36" "USH2A_000128" "g.216347503A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015645" "" "0000015646" "0" "33" "1" "216347556" "216347556" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:40" "USH2A_000129" "g.216347556A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015646" "" "0000015647" "0" "00" "1" "216347642" "216347643" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:43" "USH2A_000130" "g.216347642_216347643del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015647" "" "0000015648" "0" "55" "1" "216347743" "216347743" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 06:52:56" "USH2A_000131" "g.216347743T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015648" "" "0000015649" "0" "55" "1" "216347781" "216347781" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 12:03:34" "USH2A_000132" "g.216347781G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015649" "" "0000015650" "0" "55" "1" "216347793" "216347793" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:54" "USH2A_000133" "g.216347793G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015650" "" "0000015651" "0" "33" "1" "216347895" "216347895" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:57" "USH2A_000134" "g.216347895G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015651" "" "0000015652" "0" "55" "1" "216347984" "216347984" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:00" "USH2A_000135" "g.216347984C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015652" "" "0000015653" "0" "55" "1" "216348005" "216348005" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:04" "USH2A_000136" "g.216348005G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015653" "" "0000015654" "0" "55" "1" "216348032" "216348032" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-27 07:11:50" "USH2A_000137" "g.216348032G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015654" "" "0000015655" "0" "55" "1" "216348033" "216348033" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:10" "USH2A_000138" "g.216348033A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015655" "" "0000015656" "0" "55" "1" "216348183" "216348183" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-28 09:17:35" "USH2A_000139" "g.216348183T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015656" "" "0000015657" "0" "55" "1" "216348264" "216348264" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:18" "USH2A_000140" "g.216348264T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015657" "" "0000015658" "0" "55" "1" "216348313" "216348313" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:45" "USH2A_000141" "g.216348313A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015658" "" "0000015659" "0" "55" "1" "216348433" "216348433" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:49" "USH2A_000142" "g.216348433A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015659" "" "0000015660" "0" "33" "1" "216348449" "216348449" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-27 10:21:12" "USH2A_000143" "g.216348449A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015660" "" "0000015661" "0" "77" "1" "216348635" "216348635" "subst" "35" "0.00230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:59" "USH2A_000144" "g.216348635T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015661" "" "0000015662" "0" "55" "1" "216348776" "216348776" "subst" "51" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-27 17:38:03" "USH2A_000145" "g.216348776G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015662" "" "0000015663" "0" "77" "1" "216348781" "216348781" "subst" "35" "0.0112256" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-27 10:40:11" "USH2A_000146" "g.216348781G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015663" "" "0000015664" "0" "55" "1" "216348809" "216348809" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 06:52:56" "USH2A_000147" "g.216348809C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015664" "" "0000015665" "0" "55" "1" "216363595" "216363595" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 06:52:56" "USH2A_000148" "g.216363595C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015665" "" "0000015666" "0" "55" "1" "216363612" "216363612" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:26" "USH2A_000149" "g.216363612A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015666" "" "0000015667" "0" "55" "1" "216363685" "216363685" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-10 00:17:18" "USH2A_000150" "g.216363685C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015667" "" "0000015668" "0" "33" "1" "216363722" "216363725" "del" "51" "0.0413071" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 06:52:56" "USH2A_000112" "g.216363722_216363725del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015668" "" "0000015669" "0" "11" "1" "216363721" "216363722" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-27 05:20:31" "USH2A_000151" "g.216363721_216363722insAAAG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015669" "" "0000015670" "0" "55" "1" "216371769" "216371769" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:30:22" "USH2A_000113" "g.216371769C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015670" "" "0000015671" "0" "55" "1" "216371854" "216371854" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-07-11 00:11:07" "USH2A_000114" "g.216371854C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015671" "" "0000015672" "0" "33" "1" "216371934" "216371934" "subst" "51" "0.209166" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 08:19:49" "USH2A_000115" "g.216371934A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015672" "" "0000015673" "0" "77" "1" "216372979" "216372979" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:30:34" "USH2A_000116" "g.216372979C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015673" "" "0000015674" "0" "55" "1" "216373055" "216373055" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:30:38" "USH2A_000117" "g.216373055G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015674" "" "0000015675" "0" "77" "1" "216373080" "216373080" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:30:41" "USH2A_000118" "g.216373080T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015675" "" "0000015676" "0" "77" "1" "216373132" "216373132" "subst" "35" "0.0012302" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 12:04:53" "USH2A_000119" "g.216373132G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015676" "" "0000015677" "0" "77" "1" "216373159" "216373159" "subst" "35" "0.00169153" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-27 01:30:56" "USH2A_000120" "g.216373159G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015677" "" "0000015678" "0" "77" "1" "216373248" "216373248" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 08:19:49" "USH2A_000075" "g.216373248G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015678" "" "0000015679" "0" "55" "1" "216373438" "216373438" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-27 07:30:56" "USH2A_000078" "g.216373438G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015679" "" "0000015680" "0" "55" "1" "216373460" "216373460" "subst" "35" "0.000230769" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:01" "USH2A_000079" "g.216373460A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015680" "" "0000015681" "0" "00" "1" "216373477" "216373477" "del" "51" "0.0867108" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-24 21:04:28" "USH2A_000080" "g.216373477del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015681" "" "0000015682" "0" "55" "1" "216380754" "216380754" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:09" "USH2A_000121" "g.216380754C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015682" "" "0000015683" "0" "55" "1" "216390717" "216390717" "subst" "51" "0.000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-23 10:14:48" "USH2A_000081" "g.216390717G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015683" "" "0000015684" "0" "55" "1" "216390841" "216390841" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-27 15:31:44" "USH2A_000122" "g.216390841G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015684" "" "0000015685" "0" "55" "1" "216420277" "216420277" "subst" "51" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-23 10:14:48" "USH2A_000123" "g.216420277T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015685" "" "0000015686" "0" "55" "1" "216420457" "216420457" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:31:24" "USH2A_000082" "g.216420457T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015686" "" "0000015687" "0" "33" "1" "216424275" "216424275" "subst" "51" "0.0665078" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 08:19:49" "USH2A_000124" "g.216424275C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015687" "" "0000015688" "0" "77" "1" "216424411" "216424411" "subst" "51" "0.000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 08:19:49" "USH2A_000125" "g.216424411G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015688" "" "0000015689" "0" "55" "1" "216462690" "216462690" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-26 16:21:50" "USH2A_000126" "g.216462690T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015689" "" "0000015690" "0" "55" "1" "216462693" "216462693" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:32" "USH2A_000094" "g.216462693C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015690" "" "0000015691" "0" "55" "1" "216465568" "216465568" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 12:03:27" "USH2A_000095" "g.216465568G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015691" "" "0000015692" "0" "77" "1" "216465626" "216465626" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-27 09:33:52" "USH2A_000096" "g.216465626G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015692" "" "0000015693" "0" "55" "1" "216496827" "216496827" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:53" "USH2A_000097" "g.216496827G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015693" "" "0000015694" "0" "77" "1" "216496836" "216496836" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:44:59" "USH2A_000098" "g.216496836G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015694" "" "0000015695" "0" "33" "1" "216496947" "216496947" "subst" "35" "0.295479" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-26 19:12:15" "USH2A_000099" "g.216496947G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015695" "" "0000015696" "0" "55" "1" "216497003" "216497003" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:10" "USH2A_000100" "g.216497003T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015696" "" "0000015697" "0" "55" "1" "216497511" "216497511" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-02-26 20:33:31" "USH2A_000101" "g.216497511T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015697" "" "0000015698" "0" "77" "1" "216497659" "216497659" "subst" "35" "0.00200216" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:45:22" "USH2A_000102" "g.216497659T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015698" "" "0000015699" "0" "55" "1" "216498840" "216498840" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 12:11:23" "USH2A_000103" "g.216498840C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015699" "" "0000015700" "0" "55" "1" "216498945" "216498945" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 12:09:03" "USH2A_000104" "g.216498945T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015700" "" "0000015701" "0" "55" "1" "216591841" "216591841" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:55:07" "USH2A_000155" "g.216591841T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015701" "" "0000015702" "0" "11" "1" "216592003" "216592003" "subst" "35" "0.59634" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-27 08:18:08" "USH2A_000156" "g.216592003T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015702" "" "0000015703" "0" "77" "1" "216592036" "216592036" "subst" "35" "0.0020766" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:31:09" "USH2A_000154" "g.216592036G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015703" "" "0000015704" "0" "77" "1" "216595182" "216595182" "subst" "35" "0.000922651" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:40:01" "USH2A_000152" "g.216595182A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015704" "" "0000015705" "0" "11" "1" "216595306" "216595306" "subst" "51" "0.718976" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 08:45:25" "USH2A_000153" "g.216595306C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015705" "" "0000015706" "0" "55" "1" "216595553" "216595553" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-27 05:28:52" "USH2A_000105" "g.216595553G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015706" "" "0000015707" "0" "55" "1" "216595837" "216595837" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-26 20:27:59" "USH2A_000106" "g.216595837C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015707" "" "0000015708" "0" "55" "1" "216595859" "216595859" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:51" "USH2A_000107" "g.216595859G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015708" "" "0000015709" "0" "55" "1" "216596580" "216596580" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:55" "USH2A_000108" "g.216596580G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015709" "" "0000015710" "0" "55" "1" "216596640" "216596640" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 12:02:09" "USH2A_000109" "g.216596640G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015710" "" "0000015711" "0" "55" "1" "216596640" "216596640" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-27 05:28:52" "USH2A_000110" "g.216596640G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015711" "" "0000015712" "0" "55" "1" "216596706" "216596706" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 12:04:31" "USH2A_000111" "g.216596706G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015712" "" ## 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. ## Count = 226 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000110" "00003348" "99" "14911" "0" "14911" "0" "c.14911C>T" "68/72" "p.(Arg4971*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000111" "00003348" "77" "14287" "0" "14287" "0" "c.14287G>A" "65/72" "p.(Gly4763Arg)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000112" "00003348" "99" "14180" "0" "14180" "0" "c.14180G>A" "65/72" "p.(Trp4727*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000113" "00003348" "99" "14032" "0" "14031" "0" "c.14031_14032insA" "" "p.(Ala4678Serfs*5)" "r.(?)" "" "" "" "" "" "-" "0000000114" "00003348" "77" "13313" "0" "13313" "0" "c.13313G>A" "63/72" "p.(Trp4438*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000115" "00003348" "77" "13130" "0" "13130" "0" "c.13130C>A" "63/72" "p.(Ser4377*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000116" "00003348" "99" "12868" "0" "12868" "0" "c.12868C>T" "63/72" "p.(Gln4290*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000117" "00003348" "77" "12739" "0" "12739" "0" "c.12739G>A" "63/72" "p.(Gly4247Arg)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000000118" "00003348" "99" "12714" "0" "12714" "0" "c.12714T>G" "63/72" "p.(Tyr4238*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000119" "00003348" "99" "12295" "-2" "12295" "-2" "c.12295-2A>G" "-" "p.?" "r.spl?" 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"" "" "" "" "" "-" "0000015666" "00003116" "00" "4349" "0" "4349" "0" "c.4349T>C" "" "p.(Val1450Ala)" "r.(?)" "" "" "" "" "" "-" "0000015666" "00003348" "00" "4349" "0" "4349" "0" "c.4349T>C" "" "p.(Val1450Ala)" "r.(?)" "" "" "" "" "" "-" "0000015667" "00003116" "00" "4276" "0" "4276" "0" "c.4276G>A" "" "p.(Glu1426Lys)" "r.(?)" "" "" "" "" "" "-" "0000015667" "00003348" "00" "4276" "0" "4276" "0" "c.4276G>A" "" "p.(Glu1426Lys)" "r.(?)" "" "" "" "" "" "-" "0000015668" "00003116" "00" "4252" "-16" "4252" "-13" "c.4252-16_4252-13del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015668" "00003348" "00" "4252" "-16" "4252" "-13" "c.4252-16_4252-13del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015669" "00003116" "00" "4252" "-13" "4252" "-12" "c.4252-13_4252-12insCTTT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015669" "00003348" "00" "4252" "-13" "4252" "-12" "c.4252-13_4252-12insCTTT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015670" "00003116" "00" "3969" "0" "3969" "0" "c.3969G>A" "" "p.(Met1323Ile)" "r.(?)" "" "" "" "" "" "-" "0000015670" "00003348" "00" "3969" "0" "3969" "0" "c.3969G>A" "" "p.(Met1323Ile)" "r.(?)" "" "" "" "" "" "-" "0000015671" "00003116" "00" "3884" "0" "3884" "0" "c.3884G>A" "" "p.(Arg1295Gln)" "r.(?)" "" "" "" "" "" "-" "0000015671" "00003348" "00" "3884" "0" "3884" "0" "c.3884G>A" "" "p.(Arg1295Gln)" "r.(?)" "" "" "" "" "" "-" "0000015672" "00003116" "00" "3812" "-8" "3812" "-8" "c.3812-8T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015672" "00003348" "00" "3812" "-8" "3812" "-8" "c.3812-8T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015673" "00003116" "00" "3801" "0" "3801" "0" "c.3801G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015673" "00003348" "00" "3801" "0" "3801" "0" "c.3801G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015674" "00003116" "00" "3725" "0" "3725" "0" "c.3725C>T" "" "p.(Pro1242Leu)" "r.(?)" "" "" "" "" "" "-" "0000015674" "00003348" "00" "3725" "0" "3725" "0" "c.3725C>T" "" "p.(Pro1242Leu)" "r.(?)" "" "" "" "" "" "-" "0000015675" "00003116" "00" "3700" "0" "3700" "0" "c.3700A>G" "" "p.(Ile1234Val)" "r.(?)" "" "" "" "" "" "-" "0000015675" "00003348" "00" "3700" "0" "3700" "0" "c.3700A>G" "" "p.(Ile1234Val)" "r.(?)" "" "" "" "" "" "-" "0000015676" "00003116" "00" "3648" "0" "3648" "0" "c.3648C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015676" "00003348" "00" "3648" "0" "3648" "0" "c.3648C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015677" "00003116" "00" "3621" "0" "3621" "0" "c.3621C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015677" "00003348" "00" "3621" "0" "3621" "0" "c.3621C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015678" "00003116" "00" "3532" "0" "3532" "0" "c.3532C>G" "" "p.(Pro1178Ala)" "r.(?)" "" "" "" "" "" "-" "0000015678" "00003348" "00" "3532" "0" "3532" "0" "c.3532C>G" "" "p.(Pro1178Ala)" "r.(?)" "" "" "" "" "" "-" "0000015679" "00003116" "00" "3342" "0" "3342" "0" "c.3342C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015679" "00003348" "00" "3342" "0" "3342" "0" "c.3342C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015680" "00003116" "00" "3320" "0" "3320" "0" "c.3320T>G" "" "p.(Ile1107Ser)" "r.(?)" "" "" "" "" "" "-" "0000015680" "00003348" "00" "3320" "0" "3320" "0" "c.3320T>G" "" "p.(Ile1107Ser)" "r.(?)" "" "" "" "" "" "-" "0000015681" "00003116" "00" "3317" "-14" "3317" "-14" "c.3317-14del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015681" "00003348" "00" "3317" "-14" "3317" "-14" "c.3317-14del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015682" "00003116" "00" "3177" "0" "3177" "0" "c.3177G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015682" "00003348" "00" "3177" "0" "3177" "0" "c.3177G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015683" "00003116" "00" "3157" "12" "3157" "12" "c.3157+12C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015683" "00003348" "00" "3157" "12" "3157" "12" "c.3157+12C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015684" "00003116" "00" "3045" "0" "3045" "0" "c.3045C>G" "" "p.(His1015Gln)" "r.(?)" "" "" "" "" "" "-" "0000015684" "00003348" "00" "3045" "0" "3045" "0" "c.3045C>G" "" "p.(His1015Gln)" "r.(?)" "" "" "" "" "" "-" "0000015685" "00003116" "00" "2459" "0" "2459" "0" "c.2459A>G" "" "p.(Asn820Ser)" "r.(?)" "" "" "" "" "" "-" "0000015685" "00003348" "00" "2459" "0" "2459" "0" "c.2459A>G" "" "p.(Asn820Ser)" "r.(?)" "" "" "" "" "" "-" "0000015686" "00003116" "00" "2279" "0" "2279" "0" "c.2279A>G" "" "p.(Asn760Ser)" "r.(?)" "" "" "" "" "" "-" "0000015686" "00003348" "00" "2279" "0" "2279" "0" "c.2279A>G" "" "p.(Asn760Ser)" "r.(?)" "" "" "" "" "" "-" "0000015687" "00003116" "00" "2137" "0" "2137" "0" "c.2137G>C" "" "p.(Gly713Arg)" "r.(?)" "" "" "" "" "" "-" "0000015687" "00003348" "00" "2137" "0" "2137" "0" "c.2137G>C" "" "p.(Gly713Arg)" "r.(?)" "" "" "" "" "" "-" "0000015688" "00003116" "00" "2001" "0" "2001" "0" "c.2001C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015688" "00003348" "00" "2001" "0" "2001" "0" "c.2001C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015689" "00003116" "00" "1903" "0" "1903" "0" "c.1903A>G" "" "p.(Ile635Val)" "r.(?)" "" "" "" "" "" "-" "0000015689" "00003348" "00" "1903" "0" "1903" "0" "c.1903A>G" "" "p.(Ile635Val)" "r.(?)" "" "" "" "" "" "-" "0000015690" "00003116" "00" "1900" "0" "1900" "0" "c.1900G>T" "" "p.(Ala634Ser)" "r.(?)" "" "" "" "" "" "-" "0000015690" "00003348" "00" "1900" "0" "1900" "0" "c.1900G>T" "" "p.(Ala634Ser)" "r.(?)" "" "" "" "" "" "-" "0000015691" "00003116" "00" "1789" "0" "1789" "0" "c.1789C>A" "" "p.(His597Asn)" "r.(?)" "" "" "" "" "" "-" "0000015691" "00003348" "00" "1789" "0" "1789" "0" "c.1789C>A" "" "p.(His597Asn)" "r.(?)" "" "" "" "" "" "-" "0000015692" "00003116" "00" "1731" "0" "1731" "0" "c.1731C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015692" "00003348" "00" "1731" "0" "1731" "0" "c.1731C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015693" "00003116" "00" "1539" "0" "1539" "0" "c.1539C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015693" "00003348" "00" "1539" "0" "1539" "0" "c.1539C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015694" "00003116" "00" "1530" "0" "1530" "0" "c.1530C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015694" "00003348" "00" "1530" "0" "1530" "0" "c.1530C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015695" "00003116" "00" "1419" "0" "1419" "0" "c.1419C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015695" "00003348" "00" "1419" "0" "1419" "0" "c.1419C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015696" "00003116" "00" "1363" "0" "1363" "0" "c.1363A>G" "" "p.(Ser455Gly)" "r.(?)" "" "" "" "" "" "-" "0000015696" "00003348" "00" "1363" "0" "1363" "0" "c.1363A>G" "" "p.(Ser455Gly)" "r.(?)" "" "" "" "" "" "-" "0000015697" "00003116" "00" "1327" "0" "1327" "0" "c.1327A>G" "" "p.(Asn443Asp)" "r.(?)" "" "" "" "" "" "-" "0000015697" "00003348" "00" "1327" "0" "1327" "0" "c.1327A>G" "" "p.(Asn443Asp)" "r.(?)" "" "" "" "" "" "-" "0000015698" "00003116" "00" "1179" "0" "1179" "0" "c.1179A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015698" "00003348" "00" "1179" "0" "1179" "0" "c.1179A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015699" "00003116" "00" "950" "0" "950" "0" "c.950G>A" "" "p.(Arg317Gln)" "r.(?)" "" "" "" "" "" "-" "0000015699" "00003348" "00" "950" "0" "950" "0" "c.950G>A" "" "p.(Arg317Gln)" "r.(?)" "" "" "" "" "" "-" "0000015700" "00003116" "00" "849" "-4" "849" "-4" "c.849-4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015700" "00003348" "00" "849" "-4" "849" "-4" "c.849-4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015701" "00003116" "00" "651" "15" "651" "15" "c.651+15A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015701" "00003348" "00" "651" "15" "651" "15" "c.651+15A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015702" "00003116" "00" "504" "0" "504" "0" "c.504A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015702" "00003348" "00" "504" "0" "504" "0" "c.504A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015703" "00003116" "00" "486" "-15" "486" "-15" "c.486-15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015703" "00003348" "00" "486" "-15" "486" "-15" "c.486-15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015704" "00003116" "00" "485" "12" "485" "12" "c.485+12T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015704" "00003348" "00" "485" "12" "485" "12" "c.485+12T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015705" "00003116" "00" "373" "0" "373" "0" "c.373G>A" "" "p.(Ala125Thr)" "r.(?)" "" "" "" "" "" "-" "0000015705" "00003348" "00" "373" "0" "373" "0" "c.373G>A" "" "p.(Ala125Thr)" "r.(?)" "" "" "" "" "" "-" "0000015706" "00003116" "00" "126" "0" "126" "0" "c.126C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015706" "00003348" "00" "126" "0" "126" "0" "c.126C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015707" "00003116" "00" "-159" "0" "-159" "0" "c.-159G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015707" "00003348" "00" "-159" "0" "-159" "0" "c.-159G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015708" "00003116" "00" "-181" "0" "-181" "0" "c.-181C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015708" "00003348" "00" "-181" "0" "-181" "0" "c.-181C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015709" "00003116" "00" "-229" "0" "-229" "0" "c.-229C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015709" "00003348" "00" "-229" "0" "-229" "0" "c.-229C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015710" "00003116" "00" "-289" "0" "-289" "0" "c.-289C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015710" "00003348" "00" "-289" "0" "-289" "0" "c.-289C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015711" "00003116" "00" "-289" "0" "-289" "0" "c.-289C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015711" "00003348" "00" "-289" "0" "-289" "0" "c.-289C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015712" "00003116" "00" "-355" "0" "-355" "0" "c.-355C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015712" "00003348" "00" "-355" "0" "-355" "0" "c.-355C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0