### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNNT2) # 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}}" "TNNT2" "troponin T type 2 (cardiac)" "1" "q32" "unknown" "NG_007556.1" "UD_139288741671" "" "" "" "1" "1" "11949" "7139" "191045" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 18:57:18" "" "" "00000" "2014-04-18 18:57:18" "" ## 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}}" "00003241" "TNNT2" "transcript variant 1" "005" "NM_000364.2" "" "NP_000355.2" "" "" "" "-92" "1090" "888" "201328142" "201346805" "00000" "2014-04-18 18:57:18" "" "" "" "" "00003346" "TNNT2" "transcript variant 1" "005" "NM_000364.3" "" "NP_000355.2" "" "" "" "-92" "1090" "888" "201328136" "201346828" "00000" "2014-09-16 11:43:52" "" "" "" "" ## 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 = 15 "{{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}}" "0000001685" "0" "99" "1" "201328764" "201328764" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-11-13 17:42:25" "TNNT2_000012" "g.201328764C>T" "" "{PMID:15542288:15542288}" "" "rs121964861" "subst" "0" "; clinvar;" "4.070" "" "" "" "" "MSCV_0001685" "" "0000001686" "0" "99" "1" "201331099" "201331101" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-10-22 23:30:35" "TNNT2_000013" "g.201331099_201331101del" "" "{PMID:11773635:11773635};{PMID:15623536:15623536};{PMID:18612386:18612386};{PMID:20079745:20079745};{PMID:23383212:23383212};{PMID:23539503:23539503};{PMID:12923187:12923187};{PMID:15542288:15542288};{PMID:11106718:11106718};{PMID:11862580:11862580};{PMID" "" "rs45578238" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001686" "" "0000001687" "0" "99" "1" "201331100" "201331102" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2020-05-02 21:44:48" "TNNT2_000014" "g.201331100_201331102del" "" "{PMID:15542288:15542288};{PMID:8088824:8088824};{PMID:11106718:11106718}" "" "rs121964859" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001687" "" "0000001688" "0" "99" "1" "201331116" "201331116" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 12:01:00" "TNNT2_000015" "g.201331116C>A" "" "{PMID:15542288:15542288};{PMID:15923195:15923195};{PMID:20031601:20031601}" "" "rs121964860" "subst" "0" "; clinvar;" "4.440" "" "" "" "" "MSCV_0001688" "" "0000001689" "0" "77" "1" "201332476" "201332476" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:59:02" "TNNT2_000008" "g.201332476C>T" "" "{PMID:19324435:19324435}" "" "rs397516471" "subst" "0" "; clinvar;" "4.900" "" "" "" "" "MSCV_0001689" "" "0000001690" "0" "77" "1" "201332519" "201332519" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:59:02" "TNNT2_000009" "g.201332519G>A" "" "" "" "rs397516469" "subst" "0" "; clinvar;" "2.900" "" "" "" "" "MSCV_0001690" "" "0000001691" "0" "99" "1" "201333464" "201333464" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:59:03" "TNNT2_000010" "g.201333464G>A" "" "{PMID:11684629:11684629};{PMID:12923187:12923187};{PMID:17932326:17932326};{PMID:15623536:15623536};{PMID:18349139:18349139};{PMID:22675533:22675533};{PMID:23539503:23539503};{PMID:14654368:14654368};{PMID:15769782:15769782}" "" "rs74315379" "subst" "0" "; clinvar;" "3.340" "" "" "" "" "MSCV_0001691" "" "0000001692" "0" "99" "1" "201333464" "201333464" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-11-13 17:05:06" "TNNT2_000011" "g.201333464G>T" "" "{PMID:11684629:11684629};{PMID:12923187:12923187};{PMID:17932326:17932326};{PMID:15623536:15623536};{PMID:18349139:18349139};{PMID:22675533:22675533};{PMID:23539503:23539503};{PMID:14654368:14654368};{PMID:15769782:15769782}" "" "rs74315379" "subst" "0" "; clinvar;" "3.340" "" "" "" "" "MSCV_0001692" "" "0000001693" "0" "77" "1" "201333469" "201333469" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:54:26" "TNNT2_000007" "g.201333469C>T" "" "{PMID:20973921:20973921}" "" "rs397516466" "subst" "0" "; clinvar;" "4.280" "" "" "" "" "MSCV_0001693" "" "0000001694" "0" "77" "1" "201333493" "201333493" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-11-13 16:27:07" "TNNT2_000001" "g.201333493C>G" "" "{PMID:15542288:15542288};{PMID:15923195:15923195};{PMID:18506004:18506004}" "" "rs397516464" "subst" "0" "; clinvar;" "4.280" "" "" "" "" "MSCV_0001694" "" "0000001695" "0" "77" "1" "201333493" "201333493" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:43:54" "TNNT2_000002" "g.201333493C>T" "" "{PMID:15542288:15542288};{PMID:15923195:15923195};{PMID:18506004:18506004}" "" "rs397516464" "subst" "0" "; clinvar;" "4.280" "" "" "" "" "MSCV_0001695" "" "0000001696" "0" "77" "1" "201333494" "201333494" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:43:55" "TNNT2_000003" "g.201333494G>A" "" "{PMID:15923195:15923195};{PMID:22675533:22675533};{PMID:14654368:14654368};{PMID:15769782:15769782};{PMID:21551322:21551322};{PMID:12923187:12923187};{PMID:15623536:15623536};{PMID:17932326:17932326};{PMID:23539503:23539503};{PMID:15542288:15542288};{PMID" "" "rs74315380" "subst" "0" "; clinvar;" "3.240" "" "" "" "" "MSCV_0001696" "" "0000001697" "0" "77" "1" "201334348" "201334348" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-11-13 15:11:13" "TNNT2_000004" "g.201334348C>T" "" "" "" "rs397516461" "subst" "0" "; clinvar;" "4.100" "" "" "" "" "MSCV_0001697" "" "0000001698" "0" "77" "1" "201334738" "201334738" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:43:56" "TNNT2_000005" "g.201334738A>C" "" "" "" "rs397516454" "subst" "0" "; clinvar;" "-3.620" "" "" "" "" "MSCV_0001698" "" "0000001699" "0" "77" "1" "201334784" "201334784" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:43:57" "TNNT2_000006" "g.201334784T>C" "" "" "" "rs397516450" "subst" "0" "; clinvar;" "4.680" "" "" "" "" "MSCV_0001699" "" ## 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 = 30 "{{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}}" "0000001685" "00003241" "99" "829" "0" "829" "0" "c.829G>A" "15/16" "p.(Asp277Asn)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001685" "00003346" "99" "829" "0" "829" "0" "c.829G>A" "15/16" "p.(Asp277Asn)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001686" "00003241" "99" "652" "0" "650" "0" "c.650_652del" "" "p.(Lys217del)" "r.(?)" "" "" "" "" "" "-" "0000001686" "00003346" "99" "652" "0" "650" "0" "c.650_652del" "" "p.(Lys217del)" "r.(?)" "" "" "" "" "" "-" "0000001687" "00003241" "99" "651" "0" "649" "0" "c.649_651del" "" "p.(Lys217del)" "r.(?)" "" "" "" "" "" "-" "0000001687" "00003346" "99" "651" "0" "649" "0" "c.649_651del" "" "p.(Lys217del)" "r.(?)" "" "" "" "" "" "-" "0000001688" "00003241" "99" "635" "0" "635" "0" "c.635G>T" "13/16" "p.(Arg212Leu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001688" "00003346" "99" "635" "0" "635" "0" "c.635G>T" "13/16" "p.(Arg212Leu)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001689" "00003241" "77" "548" "0" "548" "0" "c.548G>A" "12/17" "p.(Arg183Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001689" "00003346" "77" "548" "0" "548" "0" "c.548G>A" "12/17" "p.(Arg183Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001690" "00003241" "77" "505" "0" "505" "0" "c.505C>T" "12/17" "p.(Arg169*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001690" "00003346" "77" "505" "0" "505" "0" "c.505C>T" "12/17" "p.(Arg169*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001691" "00003241" "33" "451" "0" "451" "0" "c.451C>T" "11/17" "p.(Arg151Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001691" "00003346" "33" "451" "0" "451" "0" "c.451C>T" "11/17" "p.(Arg151Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001692" "00003241" "33" "451" "0" "451" "0" "c.451C>A" "11/17" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001692" "00003346" "33" "451" "0" "451" "0" "c.451C>A" "11/17" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000001693" "00003241" "77" "446" "0" "446" "0" "c.446G>A" "11/17" "p.(Arg149His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001693" "00003346" "77" "446" "0" "446" "0" "c.446G>A" "11/17" "p.(Arg149His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001694" "00003241" "77" "422" "0" "422" "0" "c.422G>C" "11/17" "p.(Arg141Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001694" "00003346" "77" "422" "0" "422" "0" "c.422G>C" "11/17" "p.(Arg141Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001695" "00003241" "77" "422" "0" "422" "0" "c.422G>A" "11/17" "p.(Arg141Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001695" "00003346" "77" "422" "0" "422" "0" "c.422G>A" "11/17" "p.(Arg141Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001696" "00003241" "77" "421" "0" "421" "0" "c.421C>T" "11/17" "p.(Arg141Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001696" "00003346" "77" "421" "0" "421" "0" "c.421C>T" "11/17" "p.(Arg141Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001697" "00003241" "77" "382" "0" "382" "0" "c.382G>A" "10/17" "p.(Glu128Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001697" "00003346" "77" "382" "0" "382" "0" "c.382G>A" "10/17" "p.(Glu128Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001698" "00003241" "77" "294" "0" "294" "0" "c.294T>G" "9/17" "p.(Asp98Glu)" "r.(?)" "-" "" "missense_variant,splice_region_variant" "" "" "-" "0000001698" "00003346" "77" "294" "0" "294" "0" "c.294T>G" "9/17" "p.(Asp98Glu)" "r.(?)" "-" "" "missense_variant,splice_region_variant" "" "" "-" "0000001699" "00003241" "77" "248" "0" "248" "0" "c.248A>G" "9/17" "p.(Asn83Ser)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001699" "00003346" "77" "248" "0" "248" "0" "c.248A>G" "9/17" "p.(Asn83Ser)" "r.(?)" "-" "" "missense_variant" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0