### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = USH1C) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{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}}" "USH1C" "Usher syndrome 1C (autosomal recessive, severe)" "11" "p14.3" "unknown" "NC_000011.9" "UD_132084475519" "" "" "" "1" "1" "12597" "10083" "605242" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-12-10 21:13:48" "" "" "00000" "2013-12-10 21:13:48" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003196" "USH1C" "transcript variant 1" "002" "NM_005709.3" "" "NP_005700.2" "" "" "" "-109" "2128" "1659" "17515442" "17565963" "00000" "2013-12-10 21:13:48" "" "" "" "11" ## 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}}" "USH1C" "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 = 50 "{{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}}" "0000000286" "0" "77" "11" "17526211" "17526211" "subst" "35" "0.000924072" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 11:11:01" "USH1C_000002" "g.17526211G>A" "" "{PMID:12136232:12136232}" "" "rs146451547" "subst" "0" "; clinvar;" "5.640" "" "" "" "" "MSCV_0000286" "" "0000000287" "0" "55" "11" "17552955" "17552956" "ins" "35" "0.00015977" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 10:47:05" "USH1C_000003" "g.17552955_17552956insG" "" "{PMID:12107438:12107438};{PMID:12630964:12630964};{PMID:10973247:10973247};{PMID:20301442:20301442};{PMID:22135276:22135276};{PMID:10973248:10973248};{PMID:11139240:11139240};{PMID:12702164:12702164};{PMID:17407589:17407589}" "" "rs397515359" "ins" "0" ";" "" "" "" "" "" "MSCV_0000287" "" "0000000288" "0" "99" "11" "17552978" "17552978" "subst" "35" "0.000154012" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 11:19:28" "USH1C_000001" "g.17552978C>T" "" "{PMID:12630964:12630964};{PMID:15578223:15578223};{PMID:17174357:17174357};{PMID:10973248:10973248};{PMID:11239869:11239869};{PMID:11810303:11810303};{PMID:20301442:20301442};{PMID:21436283:21436283};{PMID:11139240:11139240};{PMID:17407589:17407589};{PMID" "" "rs151045328" "subst" "0" "; clinvar;" "5.690" "" "" "" "" "MSCV_0000288" "" "0000001986" "0" "00" "11" "17552955" "17552956" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-28 11:06:38" "USH1C_000004" "g.17552955_17552956insCG" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0001986" "" "0000016392" "0" "11" "11" "17515459" "17515460" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:06:15" "USH1C_000009" "g.17515459_17515460insTGTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016392" "" "0000016393" "0" "55" "11" "17515474" "17515474" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:03:24" "USH1C_000010" "g.17515474G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016393" "" "0000016394" "0" "55" "11" "17515503" "17515503" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:02:08" "USH1C_000011" "g.17515503T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016394" "" "0000016395" "0" "33" "11" "17515668" "17515668" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:04:01" "USH1C_000012" "g.17515668T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016395" "" "0000016396" "0" "33" "11" "17515693" "17515693" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:55:28" "USH1C_000013" "g.17515693G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016396" "" "0000016397" "0" "55" "11" "17515739" "17515739" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:58:33" "USH1C_000014" "g.17515739G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016397" "" "0000016398" "0" "55" "11" "17515784" "17515784" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:52:56" "USH1C_000015" "g.17515784G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016398" "" "0000016399" "0" "33" "11" "17515833" "17515833" "subst" "35" "0.45241" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:34:18" "USH1C_000016" "g.17515833A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016399" "" "0000016400" "0" "55" "11" "17515837" "17515837" "subst" "35" "0.00531341" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:04:08" "USH1C_000017" "g.17515837G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016400" "" "0000016401" "0" "77" "11" "17518352" "17518352" "subst" "35" "0.00862467" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:07:39" "USH1C_000018" "g.17518352G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016401" "" "0000016402" "0" "33" "11" "17519697" "17519697" "subst" "35" "0.0975666" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:48:28" "USH1C_000019" "g.17519697C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016402" "" "0000016403" "0" "33" "11" "17519742" "17519742" "subst" "35" "0.515093" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:47:01" "USH1C_000020" "g.17519742C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016403" "" "0000016404" "0" "55" "11" "17519758" "17519758" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:59:48" "USH1C_000021" "g.17519758G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016404" "" "0000016405" "0" "55" "11" "17522600" "17522600" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:10:48" "USH1C_000022" "g.17522600T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016405" "" "0000016406" "0" "33" "11" "17522638" "17522638" "subst" "35" "0.211998" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:33:27" "USH1C_000023" "g.17522638G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016406" "" "0000016407" "0" "55" "11" "17523014" "17523014" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:34:01" "USH1C_000024" "g.17523014C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016407" "" "0000016408" "0" "55" "11" "17523044" "17523044" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:55:55" "USH1C_000025" "g.17523044G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016408" "" "0000016409" "0" "33" "11" "17523474" "17523474" "subst" "35" "0.0572925" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:12:23" "USH1C_000026" "g.17523474G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016409" "" "0000016410" "0" "77" "11" "17538966" "17538966" "subst" "35" "0.00554614" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:19:24" "USH1C_000027" "g.17538966C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016410" "" "0000016411" "0" "77" "11" "17538971" "17538971" "subst" "35" "0.0148667" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:47:44" "USH1C_000028" "g.17538971C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016411" "" "0000016412" "0" "33" "11" "17538989" "17538989" "subst" "35" "0.000539042" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:03:36" "USH1C_000029" "g.17538989C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016412" "" "0000016413" "0" "55" "11" "17539012" "17539012" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:11:43" "USH1C_000030" "g.17539012C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016413" "" "0000016414" "0" "33" "11" "17542439" "17542439" "subst" "35" "0.504004" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:03:55" "USH1C_000031" "g.17542439T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016414" "" "0000016415" "0" "33" "11" "17542553" "17542553" "subst" "35" "0.0931003" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:05:34" "USH1C_000032" "g.17542553C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016415" "" "0000016416" "0" "77" "11" "17542554" "17542554" "subst" "35" "0.000693054" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:03:45" "USH1C_000033" "g.17542554C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016416" "" "0000016417" "0" "77" "11" "17544429" "17544429" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:02:53" "USH1C_000050" "g.17544429C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016417" "" "0000016418" "0" "55" "11" "17544467" "17544467" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:49:14" "USH1C_000046" "g.17544467C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016418" "" "0000016419" "0" "55" "11" "17544469" "17544469" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:48:17" "USH1C_000047" "g.17544469C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016419" "" "0000016420" "0" "55" "11" "17544783" "17544783" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:53:21" "USH1C_000048" "g.17544783A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016420" "" "0000016421" "0" "55" "11" "17544789" "17544789" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:03:06" "USH1C_000049" "g.17544789C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016421" "" "0000016422" "0" "77" "11" "17544956" "17544956" "subst" "35" "0.012244" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:03:30" "USH1C_000045" "g.17544956C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016422" "" "0000016423" "0" "55" "11" "17544995" "17544995" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:47:19" "USH1C_000034" "g.17544995C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016423" "" "0000016424" "0" "55" "11" "17544996" "17544996" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:33:30" "USH1C_000035" "g.17544996G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016424" "" "0000016425" "0" "55" "11" "17545988" "17545988" "subst" "35" "0.000308642" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:48:33" "USH1C_000036" "g.17545988C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016425" "" "0000016426" "0" "77" "11" "17547917" "17547917" "subst" "35" "0.0291083" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:05:40" "USH1C_000037" "g.17547917T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016426" "" "0000016427" "0" "77" "11" "17547920" "17547920" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:33:56" "USH1C_000038" "g.17547920C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016427" "" "0000016428" "0" "55" "11" "17547934" "17547934" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:34:10" "USH1C_000039" "g.17547934C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016428" "" "0000016429" "0" "55" "11" "17548770" "17548770" "subst" "35" "0.000077006" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:19:33" "USH1C_000040" "g.17548770G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016429" "" "0000016430" "0" "55" "11" "17548802" "17548802" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:11:50" "USH1C_000041" "g.17548802C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016430" "" "0000016431" "0" "55" "11" "17548860" "17548860" "subst" "35" "0.000077006" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:06:58" "USH1C_000042" "g.17548860G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016431" "" "0000016432" "0" "77" "11" "17548863" "17548863" "subst" "35" "0.00231018" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:58:47" "USH1C_000005" "g.17548863C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016432" "" "0000016433" "0" "77" "11" "17552969" "17552969" "subst" "35" "0.000308024" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:58:43" "USH1C_000043" "g.17552969A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016433" "" "0000016434" "0" "77" "11" "17553080" "17553080" "subst" "35" "0.000924072" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:06:09" "USH1C_000044" "g.17553080G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016434" "" "0000016435" "0" "55" "11" "17553093" "17553093" "subst" "35" "0.000154012" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:55:22" "USH1C_000006" "g.17553093T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016435" "" "0000016436" "0" "55" "11" "17565914" "17565914" "subst" "35" "0.0155497" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:00:09" "USH1C_000007" "g.17565914A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016436" "" "0000016437" "0" "55" "11" "17565925" "17565925" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 11:06:21" "USH1C_000008" "g.17565925A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016437" "" ## 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 = 50 "{{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}}" "0000000286" "00003196" "77" "1285" "-2684" "1285" "-2684" "c.1285-2684C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000287" "00003196" "55" "239" "0" "238" "0" "c.238_239insC" "" "p.(Arg80Profs*69)" "r.(?)" "" "" "" "" "" "-" "0000000288" "00003196" "99" "216" "0" "216" "0" "c.216G>A" "3/27" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001986" "00003196" "00" "239" "0" "238" "0" "c.238_239insCG" "3/27" "p.(Arg80Profs*7)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000016392" "00003196" "00" "2110" "0" "2111" "0" "c.*451_*452insAACA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016393" "00003196" "00" "2096" "0" "2096" "0" "c.*437C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016394" "00003196" "00" "2067" "0" "2067" "0" "c.*408A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016395" "00003196" "00" "1902" "0" "1902" "0" "c.*243A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016396" "00003196" "00" "1877" "0" "1877" "0" "c.*218C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016397" "00003196" "00" "1831" "0" "1831" "0" "c.*172C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016398" "00003196" "00" "1786" "0" "1786" "0" "c.*127C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016399" "00003196" "00" "1737" "0" "1737" "0" "c.*78T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016400" "00003196" "00" "1733" "0" "1733" "0" "c.*74C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016401" "00003196" "00" "1599" "0" "1599" "0" "c.1599C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016402" "00003196" "00" "1590" "12" "1590" "12" "c.1590+12G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016403" "00003196" "00" "1557" "0" "1557" "0" "c.1557G>C" "" "p.(Glu519Asp)" "r.(?)" "" "" "" "" "" "-" "0000016404" "00003196" "00" "1541" "0" "1541" "0" "c.1541C>A" "" "p.(Thr514Asn)" "r.(?)" "" "" "" "" "" "-" "0000016405" "00003196" "00" "1478" "0" "1478" "0" "c.1478A>G" "" "p.(His493Arg)" "r.(?)" "" "" "" "" "" "-" "0000016406" "00003196" "00" "1440" "0" "1440" "0" "c.1440C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016407" "00003196" "00" "1380" "15" "1380" "15" "c.1380+15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016408" "00003196" "00" "1365" "0" "1365" "0" "c.1365C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016409" "00003196" "00" "1326" "12" "1326" "12" "c.1326+12C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016410" "00003196" "00" "1266" "0" "1266" "0" "c.1266G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016411" "00003196" "00" "1261" "0" "1261" "0" "c.1261G>A" "" "p.(Gly421Ser)" "r.(?)" "" "" "" "" "" "-" "0000016412" "00003196" "00" "1243" "0" "1243" "0" "c.1243G>A" "" "p.(Ala415Thr)" "r.(?)" "" "" "" "" "" "-" "0000016413" "00003196" "00" "1220" "0" "1220" "0" "c.1220G>A" "" "p.(Gly407Glu)" "r.(?)" "" "" "" "" "" "-" "0000016414" "00003196" "00" "1188" "0" "1188" "0" "c.1188A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016415" "00003196" "00" "1086" "-12" "1086" "-12" "c.1086-12G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016416" "00003196" "00" "1086" "-13" "1086" "-13" "c.1086-13G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016417" "00003196" "00" "921" "0" "921" "0" "c.921G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016418" "00003196" "00" "883" "0" "883" "0" "c.883G>A" "" "p.(Glu295Lys)" "r.(?)" "" "" "" "" "" "-" "0000016419" "00003196" "00" "881" "0" "881" "0" "c.881G>A" "" "p.(Arg294Gln)" "r.(?)" "" "" "" "" "" "-" "0000016420" "00003196" "00" "851" "0" "851" "0" "c.851T>A" "" "p.(Leu284Gln)" "r.(?)" "" "" "" "" "" "-" "0000016421" "00003196" "00" "845" "0" "845" "0" "c.845G>A" "" "p.(Arg282His)" "r.(?)" "" "" "" "" "" "-" "0000016422" "00003196" "00" "819" "10" "819" "10" "c.819+10G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016423" "00003196" "00" "790" "0" "790" "0" "c.790G>A" "" "p.(Val264Ile)" "r.(?)" "" "" "" "" "" "-" "0000016424" "00003196" "00" "789" "0" "789" "0" "c.789C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016425" "00003196" "00" "759" "10" "759" "10" "c.759+10G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016426" "00003196" "00" "651" "0" "651" "0" "c.651A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016427" "00003196" "00" "648" "0" "648" "0" "c.648G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016428" "00003196" "00" "634" "0" "634" "0" "c.634G>A" "" "p.(Val212Ile)" "r.(?)" "" "" "" "" "" "-" "0000016429" "00003196" "00" "496" "0" "496" "0" "c.496C>T" "" "p.(His166Tyr)" "r.(?)" "" "" "" "" "" "-" "0000016430" "00003196" "00" "464" "0" "464" "0" "c.464G>C" "" "p.(Arg155Pro)" "r.(?)" "" "" "" "" "" "-" "0000016431" "00003196" "00" "406" "0" "406" "0" "c.406C>T" "" "p.(Arg136Trp)" "r.(?)" "" "" "" "" "" "-" "0000016432" "00003196" "00" "403" "0" "403" "0" "c.403G>A" "" "p.(Val135Ile)" "r.(?)" "" "" "" "" "" "-" "0000016433" "00003196" "00" "225" "0" "225" "0" "c.225T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016434" "00003196" "00" "114" "0" "114" "0" "c.114C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016435" "00003196" "00" "105" "-4" "105" "-4" "c.105-4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016436" "00003196" "00" "-60" "0" "-60" "0" "c.-60T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016437" "00003196" "00" "-71" "0" "-71" "0" "c.-71T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0