### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TTN) # 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}}" "TTN" "titin" "2" "q31" "unknown" "NG_011618.3" "UD_139264670118" "" "" "" "1" "1" "12403" "7273" "188840" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 18:53:24" "" "" "00000" "2014-04-18 18:53:24" "" ## 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}}" "00003227" "TTN" "transcript variant N2-A" "004" "NM_133378.4" "" "NP_596869.4" "" "" "" "-225" "101295" "100272" "179390716" "179672150" "00000" "2014-04-18 18:53:24" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 38 "{{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}}" "0000002780" "0" "77" "2" "179398393" "179398393" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-07-01 15:36:23" "TTN_000037" "g.179398393G>A" "" "" "" "rs397517787" "subst" "0" "; clinvar;" "5.500" "" "" "" "" "MSCV_0002780" "" "0000002781" "0" "77" "2" "179412456" "179412456" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:56:12" "TTN_000038" "g.179412456del" "" "" "" "rs397517758" "del" "0" "; clinvar;" "-2.390" "" "" "" "" "MSCV_0002781" "" "0000002782" "0" "77" "2" "179416848" "179416849" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-06-15 00:16:56" "TTN_000030" "g.179416848_179416849insA" "" "{PMID:22335739:22335739}" "" "rs397517750" "ins" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002782" "" "0000002783" "0" "77" "2" "179417040" "179417040" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:52:35" "TTN_000031" "g.179417040del" "" "{PMID:16733766:16733766}" "" "rs397517749" "del" "0" "; clinvar;" "6.060" "" "" "" "" "MSCV_0002783" "" "0000002784" "0" "77" "2" "179418639" "179418641" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:52:39" "TTN_000032" "g.179418639_179418641del" "" "" "" "rs397517741" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002784" "" "0000002785" "0" "77" "2" "179424036" "179424036" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-10-23 01:23:00" "TTN_000033" "g.179424036A>T" "" "{PMID:22335739:22335739};{PMID:23418287:23418287}" "" "rs397517735" "subst" "0" "; clinvar;" "5.610" "" "" "" "" "MSCV_0002785" "" "0000002786" "0" "77" "2" "179429327" "179429327" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-06-22 22:34:40" "TTN_000034" "g.179429327C>A" "" "" "" "rs397517721" "subst" "0" "; clinvar;" "5.690" "" "" "" "" "MSCV_0002786" "" "0000002787" "0" "77" "2" "179437014" "179437014" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:52:58" "TTN_000035" "g.179437014del" "" "" "" "rs397517696" "del" "0" "; clinvar;" "1.770" "" "" "" "" "MSCV_0002787" "" "0000002788" "0" "77" "2" "179437032" "179437032" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-09-06 18:44:10" "TTN_000036" "g.179437032del" "" "" "" "rs397517695" "del" "0" "; clinvar;" "0.895" "" "" "" "" "MSCV_0002788" "" "0000002789" "0" "99" "2" "179439257" "179439257" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 14:00:45" "TTN_000023" "g.179439257G>A" "" "" "" "rs397517689" "subst" "0" "; clinvar;" "2.440" "" "" "" "" "MSCV_0002789" "" "0000002790" "0" "55" "2" "179441509" "179441510" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:51:36" "TTN_000024" "g.179441509_179441510insTTCT" "" "" "" "rs397517679" "ins" "0" ";" "" "" "" "" "" "MSCV_0002790" "" "0000002791" "0" "77" "2" "179446377" "179446377" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:51:44" "TTN_000025" "g.179446377G>T" "" "{PMID:22335739:22335739}" "" "rs397517664" "subst" "0" "; clinvar;" "3.570" "" "" "" "" "MSCV_0002791" "" "0000002792" "0" "77" "2" "179457641" "179457641" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-11-09 14:47:58" "TTN_000026" "g.179457641del" "" "" "" "rs397517643" "del" "0" "; clinvar;" "1.290" "" "" "" "" "MSCV_0002792" "" "0000002793" "0" "77" "2" "179459226" "179459226" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:51:59" "TTN_000027" "g.179459226del" "" "" "" "rs397517633" "del" "0" "; clinvar;" "6.170" "" "" "" "" "MSCV_0002793" "" "0000002794" "0" "77" "2" "179460233" "179460233" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2020-10-04 20:16:03" "TTN_000028" "g.179460233C>T" "" "" "" "rs397517631" "subst" "0" "; clinvar;" "6.070" "" "" "" "" "MSCV_0002794" "" "0000002795" "0" "77" "2" "179462682" "179462682" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:52:12" "TTN_000029" "g.179462682del" "" "" "" "rs397517628" "del" "0" "; clinvar;" "5.870" "" "" "" "" "MSCV_0002795" "" "0000002796" "0" "77" "2" "179463704" "179463705" "ins" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-05-27 05:00:49" "TTN_000016" "g.179463704_179463705insT" "" "" "" "rs397517626" "ins" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002796" "" "0000002797" "0" "77" "2" "179463872" "179463872" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:49:52" "TTN_000017" "g.179463872C>T" "" "" "" "rs397517624" "subst" "0" "; clinvar;" "5.980" "" "" "" "" "MSCV_0002797" "" "0000002798" "0" "77" "2" "179468778" "179468778" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:49:59" "TTN_000018" "g.179468778A>C" "" "" "" "rs397517620" "subst" "0" "; clinvar;" "1.940" "" "" "" "" "MSCV_0002798" "" "0000002799" "0" "77" "2" "179476338" "179476338" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:50:08" "TTN_000019" "g.179476338C>T" "" "" "" "rs397517601" "subst" "0" "; clinvar;" "6.170" "" "" "" "" "MSCV_0002799" "" "0000002800" "0" "77" "2" "179482572" "179482572" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:50:15" "TTN_000020" "g.179482572G>A" "" "" "" "rs397517589" "subst" "0" "; clinvar;" "5.630" "" "" "" "" "MSCV_0002800" "" "0000002801" "0" "77" "2" "179483495" "179483495" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-09-10 00:47:50" "TTN_000021" "g.179483495G>T" "" "{PMID:22335739:22335739}" "" "rs397517587" "subst" "0" "; clinvar;" "4.600" "" "" "" "" "MSCV_0002801" "" "0000002802" "0" "77" "2" "179483504" "179483504" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:50:29" "TTN_000022" "g.179483504A>T" "" "" "" "rs397517586" "subst" "0" "; clinvar;" "3.120" "" "" "" "" "MSCV_0002802" "" "0000002803" "0" "77" "2" "179485178" "179485179" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-09-14 08:06:34" "TTN_000001" "g.179485178_179485179del" "" "" "" "rs397517584" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002803" "" "0000002804" "0" "77" "2" "179486244" "179486244" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-10-22 20:24:35" "TTN_000002" "g.179486244G>A" "" "" "" "rs397517580" "subst" "0" "; clinvar;" "3.010" "" "" "" "" "MSCV_0002804" "" "0000002805" "0" "77" "2" "179494088" "179494088" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:35:51" "TTN_000003" "g.179494088del" "" "" "" "rs397517576" "del" "0" "; clinvar;" "-4.900" "" "" "" "" "MSCV_0002805" "" "0000002806" "0" "77" "2" "179500441" "179500441" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:35:57" "TTN_000004" "g.179500441del" "" "" "" "rs397517565" "del" "0" "; clinvar;" "2.340" "" "" "" "" "MSCV_0002806" "" "0000002807" "0" "55" "2" "179602835" "179602835" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-05-23 01:11:15" "TTN_000005" "g.179602835C>T" "" "{PMID:11846417:11846417}" "" "rs281864908" "subst" "0" ";" "5.800" "" "" "" "" "MSCV_0002807" "" "0000002808" "0" "99" "2" "179602841" "179602841" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-06-30 21:12:28" "TTN_000006" "g.179602841C>T" "" "{PMID:11846417:11846417}" "" "rs147879266" "subst" "0" "; clinvar;" "5.800" "" "" "" "" "MSCV_0002808" "" "0000002809" "0" "99" "2" "179604852" "179604852" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-09-10 00:53:14" "TTN_000007" "g.179604852G>A" "" "{PMID:11846417:11846417}" "" "rs267607158" "subst" "0" "; clinvar;" "5.020" "" "" "" "" "MSCV_0002809" "" "0000002810" "0" "77" "2" "179605752" "179605752" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2015-05-22 22:21:07" "TTN_000008" "g.179605752C>A" "" "" "" "rs397517830" "subst" "0" "; clinvar;" "4.730" "" "" "" "" "MSCV_0002810" "" "0000002811" "0" "77" "2" "179639757" "179639760" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:37:06" "TTN_000009" "g.179639757_179639760del" "" "" "" "rs397517698" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002811" "" "0000002812" "0" "77" "2" "179647599" "179647599" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2017-01-05 12:44:32" "TTN_000010" "g.179647599G>A" "" "" "" "rs397517547" "subst" "0" "; clinvar;" "3.030" "" "" "" "" "MSCV_0002812" "" "0000002813" "0" "99" "2" "179647707" "179647707" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:37:15" "TTN_000011" "g.179647707A>G" "" "{PMID:10051295:10051295};{PMID:11788824:11788824}" "" "rs267607155" "subst" "0" "; clinvar;" "6.170" "" "" "" "" "MSCV_0002813" "" "0000002814" "0" "99" "2" "179647707" "179647707" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:37:20" "TTN_000012" "g.179647707A>T" "" "{PMID:10051295:10051295};{PMID:11788824:11788824}" "" "rs267607155" "subst" "0" "; clinvar;" "6.170" "" "" "" "" "MSCV_0002814" "" "0000002815" "0" "99" "2" "179650717" "179650717" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:37:25" "TTN_000013" "g.179650717G>A" "" "{PMID:11846417:11846417}" "" "rs267607157" "subst" "0" "; clinvar;" "5.300" "" "" "" "" "MSCV_0002815" "" "0000002816" "0" "77" "2" "179655434" "179655434" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:37:29" "TTN_000014" "g.179655434C>T" "" "" "" "rs397517497" "subst" "0" "; clinvar;" "4.960" "" "" "" "" "MSCV_0002816" "" "0000002817" "0" "99" "2" "179667000" "179667000" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-06-23 15:19:04" "TTN_000015" "g.179667000C>T" "" "{PMID:11846417:11846417}" "" "rs139517732" "subst" "0" "; clinvar;" "4.860" "" "" "" "" "MSCV_0002817" "" ## 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 = 38 "{{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}}" "0000002780" "00003227" "77" "95245" "0" "95245" "0" "c.95245C>T" "307/312" "p.(Gln31749*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002781" "00003227" "77" "86193" "0" "86193" "0" "c.86193del" "" "p.(Phe28731Leufs*14)" "r.(?)" "" "" "" "" "" "-" "0000002782" "00003227" "77" "83075" "0" "83074" "0" "c.83074_83075insT" "" "p.(Tyr27692Leufs*12)" "r.(?)" "" "" "" "" "" "-" "0000002783" "00003227" "77" "82883" "0" "82883" "0" "c.82883del" "" "p.(Lys27628Argfs*94)" "r.(?)" "" "" "" "" "" "-" "0000002784" "00003227" "77" "81493" "2" "81493" "0" "c.81493_81493+2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000002785" "00003227" "77" "79117" "2" "79117" "2" "c.79117+2T>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000002786" "00003227" "77" "73828" "0" "73828" "0" "c.73828G>T" "275/312" "p.(Glu24610*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002787" "00003227" "77" "66141" "0" "66141" "0" "c.66141del" "" "p.(Glu22047Aspfs*9)" "r.(?)" "" "" "" "" "" "-" "0000002788" "00003227" "77" "66123" "0" "66123" "0" "c.66123del" "" "p.(Glu22041Aspfs*3)" "r.(?)" "" "" "" "" "" "-" "0000002789" "00003227" "77" "63898" "0" "63898" "0" "c.63898C>T" "275/312" "p.(Arg21300*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002790" "00003227" "55" "61758" "0" "61757" "0" "c.61757_61758insAGAA" "" "p.(Asn20586Lysfs*14)" "r.(?)" "" "" "" "" "" "-" "0000002791" "00003227" "77" "58914" "0" "58914" "0" "c.58914C>A" "265/312" "p.(Cys19638*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002792" "00003227" "77" "51501" "0" "51501" "0" "c.51501del" "" "p.(Glu17167Aspfs*24)" "r.(?)" "" "" "" "" "" "-" "0000002793" "00003227" "77" "50291" "0" "50291" "0" "c.50291del" "" "p.(His16764Profs*18)" "r.(?)" "" "" "" "" "" "-" "0000002794" "00003227" "77" "50143" "1" "50143" "1" "c.50143+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000002795" "00003227" "77" "49511" "0" "49511" "0" "c.49511del" "" "p.(Gly16504Glufs*12)" "r.(?)" "" "" "" "" "" "-" "0000002796" "00003227" "77" "49029" "0" "49028" "0" "c.49028_49029insA" "" "p.(Asp16343Glufs*25)" "r.(?)" "" "" "" "" "" "-" "0000002797" "00003227" "77" "48943" "1" "48943" "1" "c.48943+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000002798" "00003227" "77" "46932" "0" "46932" "0" "c.46932T>G" "231/312" "p.(Tyr15644*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002799" "00003227" "77" "42914" "0" "42914" "0" "c.42914G>A" "218/312" "p.(Trp14305*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002800" "00003227" "77" "39802" "0" "39802" "0" "c.39802C>T" "202/312" "p.(Gln13268*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002801" "00003227" "77" "39078" "0" "39078" "0" "c.39078C>A" "200/312" "p.(Tyr13026*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002802" "00003227" "77" "39069" "0" "39069" "0" "c.39069T>A" "200/312" "p.(Tyr13023*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002803" "00003227" "77" "38366" "0" "38365" "0" "c.38365_38366del" "" "p.(Met12789Valfs*4)" "r.(?)" "" "" "" "" "" "-" "0000002804" "00003227" "77" "37603" "0" "37603" "0" "c.37603C>T" "194/312" "p.(Arg12535*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002805" "00003227" "77" "36660" "0" "36660" "0" "c.36660del" "" "p.(Tyr12221Thrfs*15)" "r.(?)" "" "" "" "" "" "-" "0000002806" "00003227" "77" "33906" "0" "33906" "0" "c.33906del" "" "p.(Val11303Serfs*7)" "r.(?)" "" "" "" "" "" "-" "0000002807" "00003227" "55" "10613" "0" "10613" "0" "c.10613G>A" "46/312" "p.(Ser3538Asn)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002808" "00003227" "99" "10607" "0" "10607" "0" "c.10607G>A" "46/312" "p.(Ser3536Asn)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002809" "00003227" "99" "10361" "-1765" "10361" "-1765" "c.10361-1765C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000002810" "00003227" "77" "10361" "-2665" "10361" "-2665" "c.10361-2665G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000002811" "00003227" "77" "6681" "0" "6678" "0" "c.6678_6681del" "" "p.(Lys2227Phefs*7)" "r.(?)" "" "" "" "" "" "-" "0000002812" "00003227" "77" "3034" "0" "3034" "0" "c.3034C>T" "18/313" "p.(Arg1012*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000002813" "00003227" "99" "2926" "0" "2926" "0" "c.2926T>C" "18/313" "p.(Trp976Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002814" "00003227" "99" "2926" "0" "2926" "0" "c.2926T>A" "18/313" "p.(Trp976Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002815" "00003227" "99" "2228" "0" "2228" "0" "c.2228C>T" "14/313" "p.(Ala743Val)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000002816" "00003227" "77" "1800" "1" "1800" "1" "c.1800+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000002817" "00003227" "99" "160" "0" "160" "0" "c.160G>A" "3/192" "p.(Val54Met)" "r.(?)" "-" "" "missense_variant" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0