### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TTC19) # 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}}" "TTC19" "tetratricopeptide repeat domain 19" "17" "p11.2" "unknown" "NC_000017.10" "UD_132118972274" "" "" "" "1" "1" "26006" "54902" "613814" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "00000351" "TTC19" "transcript variant 2" "001" "NR_037985.1" "" "" "" "" "" "1" "3636" "3636" "15902694" "15932723" "00001" "2013-11-07 14:01:39" "" "" "" "17" "00000352" "TTC19" "transcript variant 1" "002" "NM_017775.3" "" "NP_060245.2" "" "" "" "-106" "3393" "1506" "15902694" "15932723" "00001" "2013-11-07 14:01:39" "" "" "" "17" ## 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}}" "00018" "MC3DN2" "Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)" "615157" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TTC19" "00018" ## 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 = 71 "{{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}}" "0000000716" "0" "99" "17" "15907199" "15907199" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 01:06:57" "TTC19_000001" "g.15907199C>T" "" "{PMID:21278747:21278747}" "" "rs387907094" "subst" "0" "; clinVar; ensembl;" "5.460" "" "" "" "" "MSCV_0000716" "" "0000018313" "0" "55" "17" "15902711" "15902711" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:49" "ZSWIM7_000007" "g.15902711G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018313" "" "0000018314" "0" "55" "17" "15902719" "15902719" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:03:28" "ZSWIM7_000006" "g.15902719T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018314" "" "0000018315" "0" "33" "17" "15902816" "15902816" "subst" "35" "0.033687" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:17" "ZSWIM7_000005" "g.15902816C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018315" "" "0000018316" "0" "77" "17" "15902823" "15902823" "subst" "35" "0.000165865" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:04:48" "ZSWIM7_000004" "g.15902823G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018316" "" "0000018317" "0" "55" "17" "15902835" "15902835" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:26:15" "ZSWIM7_000001" "g.15902835C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018317" "" "0000018318" "0" "55" "17" "15902973" "15902973" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-07-15 16:56:40" "ZSWIM7_000002" "g.15902973C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018318" "" "0000018319" "0" "77" "17" "15902985" "15902985" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:29" "ZSWIM7_000003" "g.15902985C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018319" "" "0000018320" "0" "33" "17" "15902994" "15902994" "subst" "35" "0.0267436" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:37" "TTC19_000047" "g.15902994C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018320" "" "0000018321" "0" "55" "17" "15903022" "15903022" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-02 19:41:59" "TTC19_000048" "g.15903022G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018321" "" "0000018322" "0" "77" "17" "15903056" "15903056" "subst" "35" "0.00483448" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:30" "TTC19_000049" "g.15903056A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018322" "" "0000018323" "0" "55" "17" "15903080" "15903080" "subst" "35" "0.0000856018" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:08" "TTC19_000050" "g.15903080C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018323" "" "0000018324" "0" "55" "17" "15903090" "15903090" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-14 01:41:51" "TTC19_000051" "g.15903090G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018324" "" "0000018325" "0" "33" "17" "15903148" "15903148" "subst" "35" "0.0218896" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:25" "TTC19_000052" "g.15903148G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018325" "" "0000018326" "0" "55" "17" "15903187" "15903187" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:23" "TTC19_000053" "g.15903187C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018326" "" "0000018327" "0" "77" "17" "15903308" "15903308" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:59:10" "TTC19_000054" "g.15903308C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018327" "" "0000018328" "0" "55" "17" "15903317" "15903317" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:45" "TTC19_000055" "g.15903317G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018328" "" "0000018329" "0" "55" "17" "15903517" "15903517" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:04:31" "TTC19_000056" "g.15903517C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018329" "" "0000018330" "0" "33" "17" "15905225" "15905225" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:04:37" "TTC19_000023" "g.15905225T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018330" "" "0000018331" "0" "55" "17" "15905280" "15905280" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:18" "TTC19_000024" "g.15905280G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018331" "" "0000018332" "0" "55" "17" "15905337" "15905337" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:35" "TTC19_000025" "g.15905337T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018332" "" "0000018333" "0" "55" "17" "15906122" "15906122" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:13" "TTC19_000026" "g.15906122T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018333" "" "0000018334" "0" "99" "17" "15907199" "15907199" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:14" "TTC19_000001" "g.15907199C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000716" "" "0000018335" "0" "77" "17" "15907549" "15907549" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:09" "TTC19_000027" "g.15907549T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018335" "" "0000018336" "0" "33" "17" "15907568" "15907568" "subst" "35" "0.0409042" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:43" "TTC19_000028" "g.15907568G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018336" "" "0000018337" "0" "00" "17" "15909804" "15909807" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:21" "TTC19_000029" "g.15909804_15909807del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018337" "" "0000018338" "0" "55" "17" "15909818" "15909818" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:04:57" "TTC19_000030" "g.15909818C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018338" "" "0000018339" "0" "99" "17" "15909862" "15909862" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:27" "TTC19_000031" "g.15909862T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018339" "" "0000018340" "0" "77" "17" "15928412" "15928412" "subst" "51" "0.0101492" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-26 05:50:24" "TTC19_000032" "g.15928412C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018340" "" "0000018341" "0" "55" "17" "15928435" "15928435" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:29:53" "TTC19_000033" "g.15928435G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018341" "" "0000018342" "0" "99" "17" "15928471" "15928471" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:04:44" "TTC19_000034" "g.15928471G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018342" "" "0000018343" "0" "99" "17" "15928483" "15928483" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:56" "TTC19_000035" "g.15928483C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018343" "" "0000018344" "0" "55" "17" "15930019" "15930019" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:01" "TTC19_000036" "g.15930019A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018344" "" "0000018345" "0" "77" "17" "15930734" "15930734" "subst" "35" "0.00253729" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:30:01" "TTC19_000037" "g.15930734A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018345" "" "0000018346" "0" "00" "17" "15930748" "15930750" "del" "35" "0.00295574" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:20" "TTC19_000038" "g.15930748_15930750del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018346" "" "0000018347" "0" "55" "17" "15930863" "15930863" "subst" "35" "0.000615101" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:30:06" "TTC19_000039" "g.15930863G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018347" "" "0000018348" "0" "33" "17" "15930882" "15930882" "subst" "35" "0.0811933" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:30:08" "TTC19_000040" "g.15930882T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018348" "" "0000018349" "0" "55" "17" "15931133" "15931133" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:30:12" "TTC19_000041" "g.15931133G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018349" "" "0000018350" "0" "55" "17" "15931137" "15931137" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:37" "TTC19_000042" "g.15931137G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018350" "" "0000018351" "0" "55" "17" "15931171" "15931171" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:30:16" "TTC19_000043" "g.15931171C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018351" "" "0000018352" "0" "00" "17" "15931273" "15931273" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:53" "TTC19_000044" "g.15931273del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018352" "" "0000018353" "0" "55" "17" "15931414" "15931414" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:45" "TTC19_000045" "g.15931414C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018353" "" "0000018354" "0" "33" "17" "15931436" "15931436" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:33" "TTC19_000046" "g.15931436G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018354" "" "0000018355" "0" "00" "17" "15931505" "15931506" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:34" "TTC19_000057" "g.15931505_15931506insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018355" "" "0000018356" "0" "55" "17" "15931512" "15931512" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:01" "TTC19_000058" "g.15931512C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018356" "" "0000018357" "0" "33" "17" "15931545" "15931545" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:05" "TTC19_000059" "g.15931545T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018357" "" "0000018358" "0" "55" "17" "15931582" "15931582" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:04:41" "TTC19_000060" "g.15931582C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018358" "" "0000018359" "0" "55" "17" "15931589" "15931589" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:04" "TTC19_000061" "g.15931589A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018359" "" "0000018360" "0" "33" "17" "15931693" "15931693" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:37" "TTC19_000062" "g.15931693G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018360" "" "0000018361" "0" "33" "17" "15931807" "15931807" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:41" "TTC19_000002" "g.15931807G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018361" "" "0000018362" "0" "55" "17" "15931844" "15931844" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:43" "TTC19_000003" "g.15931844G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018362" "" "0000018363" "0" "55" "17" "15931935" "15931935" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:49" "TTC19_000004" "g.15931935C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018363" "" "0000018364" "0" "55" "17" "15932030" "15932030" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:41" "TTC19_000005" "g.15932030T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018364" "" "0000018365" "0" "33" "17" "15932071" "15932072" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:26" "TTC19_000006" "g.15932071_15932072insTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018365" "" "0000018366" "0" "00" "17" "15932131" "15932132" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:54" "TTC19_000007" "g.15932131_15932132insCAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018366" "" "0000018367" "0" "00" "17" "15932132" "15932133" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:56" "TTC19_000008" "g.15932132_15932133insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018367" "" "0000018368" "0" "00" "17" "15932132" "15932133" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:29" "TTC19_000009" "g.15932132_15932133insAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018368" "" "0000018369" "0" "00" "17" "15932132" "15932133" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:13" "TTC19_000010" "g.15932132_15932133insAAAAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018369" "" "0000018370" "0" "00" "17" "15932132" "15932133" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:41" "TTC19_000011" "g.15932132_15932133insAAAAAAAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018370" "" "0000018371" "0" "00" "17" "15932133" "15932133" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:06" "TTC19_000013" "g.15932133del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018371" "" "0000018372" "0" "00" "17" "15932132" "15932133" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:08" "TTC19_000012" "g.15932132_15932133insAAAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018372" "" "0000018373" "0" "55" "17" "15932154" "15932154" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:07:53" "TTC19_000014" "g.15932154A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018373" "" "0000018374" "0" "55" "17" "15932156" "15932156" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:05:32" "TTC19_000015" "g.15932156A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018374" "" "0000018375" "0" "55" "17" "15932157" "15932157" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:04:54" "TTC19_000016" "g.15932157A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018375" "" "0000018376" "0" "00" "17" "15932161" "15932161" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:33" "TTC19_000017" "g.15932161delinsAAAAAAAAAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018376" "" "0000018377" "0" "55" "17" "15932379" "15932379" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:22" "TTC19_000018" "g.15932379A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018377" "" "0000018378" "0" "55" "17" "15932398" "15932398" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-05 18:19:49" "TTC19_000019" "g.15932398A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018378" "" "0000018379" "0" "55" "17" "15932574" "15932574" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:06:45" "TTC19_000020" "g.15932574T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018379" "" "0000018380" "0" "33" "17" "15932627" "15932627" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:05:59" "TTC19_000021" "g.15932627T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018380" "" "0000018381" "0" "55" "17" "15932722" "15932722" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:05:54" "TTC19_000022" "g.15932722T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018381" "" "0000025505" "0" "00" "17" "15928420" "15928420" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:26:58" "TTC19_000063" "g.15928420G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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 = 142 "{{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}}" "0000000716" "00000351" "99" "1123" "0" "1123" "0" "n.1123C>T" "" "" "" "" "" "" "" "" "-" "0000000716" "00000352" "99" "517" "0" "517" "0" "c.517C>T" "5/10" "p.?" "r.?" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000018313" "00000351" "00" "18" "0" "18" "0" "n.18G>A" "" "" "" "" "" "" "" "" "-" "0000018313" "00000352" "00" "-452" "0" "-452" "0" "c.-452G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018314" "00000351" "00" "26" "0" "26" "0" "n.26T>C" "" "" "" "" "" "" "" "" "-" "0000018314" "00000352" "00" "-444" "0" "-444" "0" "c.-444T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018315" "00000351" "00" "123" "0" "123" "0" "n.123C>A" "" "" "" "" "" "" "" "" "-" "0000018315" "00000352" "00" "-347" "0" "-347" "0" "c.-347C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018316" "00000351" "00" "130" "0" "130" "0" "n.130G>C" "" "" "" "" "" "" "" "" "-" "0000018316" "00000352" "00" "-340" "0" "-340" "0" "c.-340G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018317" "00000351" "00" "142" "0" "142" "0" "n.142C>T" "" "" "" "" "" "" "" "" "-" "0000018317" "00000352" "00" "-328" "0" "-328" "0" "c.-328C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018318" "00000351" "00" "280" "0" "280" "0" "n.280C>T" "" "" "" "" "" "" "" "" "-" "0000018318" "00000352" "00" "-190" "0" "-190" "0" "c.-190C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018319" "00000351" "00" "292" "0" "292" "0" "n.292C>T" "" "" "" "" "" "" "" "" "-" "0000018319" "00000352" "00" "-178" "0" "-178" "0" "c.-178C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018320" "00000351" "00" "301" "0" "301" "0" "n.301C>G" "" "" "" "" "" "" "" "" "-" "0000018320" "00000352" "00" "-169" "0" "-169" "0" "c.-169C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018321" "00000351" "00" "329" "0" "329" "0" "n.329G>A" "" "" "" "" "" "" "" "" "-" "0000018321" "00000352" "00" "-141" "0" "-141" "0" "c.-141G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018322" "00000351" "00" "363" "0" "363" "0" "n.363A>T" "" "" "" "" "" "" "" "" "-" "0000018322" "00000352" "00" "-107" "0" "-107" "0" "c.-107A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018323" "00000351" "00" "387" "0" "387" "0" "n.387C>T" "" "" "" "" "" "" "" "" "-" "0000018323" "00000352" "00" "-83" "0" "-83" "0" "c.-83C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018324" "00000351" "00" "397" "0" "397" "0" "n.397G>A" "" "" "" "" "" "" "" "" "-" "0000018324" "00000352" "00" "-73" "0" "-73" "0" "c.-73G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018325" "00000351" "00" "455" "0" "455" "0" "n.455G>A" "" "" "" "" "" "" "" "" "-" "0000018325" "00000352" "00" "-15" "0" "-15" "0" "c.-15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018326" "00000351" "00" "494" "0" "494" "0" "n.494C>T" "" "" "" "" "" "" "" "" "-" "0000018326" "00000352" "00" "25" "0" "25" "0" "c.25C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018327" "00000351" "00" "615" "0" "615" "0" "n.615C>T" "" "" "" "" "" "" "" "" "-" "0000018327" "00000352" "00" "146" "0" "146" "0" "c.146C>T" "" "p.(Pro49Leu)" "r.(?)" "" "" "" "" "" "-" "0000018328" "00000351" "00" "624" "0" "624" "0" "n.624G>A" "" "" "" "" "" "" "" "" "-" "0000018328" "00000352" "00" "155" "0" "155" "0" "c.155G>A" "" "p.(Arg52Gln)" "r.(?)" "" "" "" "" "" "-" "0000018329" "00000351" "00" "739" "0" "739" "0" "n.739C>G" "" "" "" "" "" "" "" "" "-" "0000018329" "00000352" "00" "270" "0" "270" "0" "c.270C>G" "" "p.(Asp90Glu)" "r.(?)" "" "" "" "" "" "-" "0000018330" "00000351" "00" "919" "-4" "919" "-4" "n.919-4T>C" "" "" "" "" "" "" "" "" "-" "0000018330" "00000352" "00" "313" "-4" "313" "-4" "c.313-4T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018331" "00000351" "00" "970" "0" "970" "0" "n.970G>A" "" "" "" "" "" "" "" "" "-" "0000018331" "00000352" "00" "364" "0" "364" "0" "c.364G>A" "" "p.(Ala122Thr)" "r.(?)" "" "" "" "" "" "-" "0000018332" "00000351" "00" "1027" "0" "1027" "0" "n.1027T>G" "" "" "" "" "" "" "" "" "-" "0000018332" "00000352" "00" "421" "0" "421" "0" "c.421T>G" "" "p.(Leu141Val)" "r.(?)" "" "" "" "" "" "-" "0000018333" "00000351" "00" "1045" "0" "1045" "0" "n.1045T>C" "" "" "" "" "" "" "" "" "-" "0000018333" "00000352" "00" "439" "0" "439" "0" "c.439T>C" "" "p.(Phe147Leu)" "r.(?)" "" "" "" "" "" "-" "0000018334" "00000351" "00" "1123" "0" "1123" "0" "n.1123C>T" "" "" "" "" "" "" "" "" "-" "0000018334" "00000352" "00" "517" "0" "517" "0" "c.517C>T" "" "p.(Gln173*)" "r.(?)" "" "" "" "" "" "-" "0000018335" "00000351" "00" "1160" "0" "1160" "0" "n.1160T>C" "" "" "" "" "" "" "" "" "-" "0000018335" "00000352" "00" "554" "0" "554" "0" "c.554T>C" "" "p.(Leu185Pro)" "r.(?)" "" "" "" "" "" "-" "0000018336" "00000351" "00" "1179" "0" "1179" "0" "n.1179G>A" "" "" "" "" "" "" "" "" "-" "0000018336" "00000352" "00" "573" "0" "573" "0" "c.573G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018337" "00000351" "00" "1204" "0" "1207" "0" "n.1204_1207del" "" "" "" "" "" "" "" "" "-" "0000018337" "00000352" "00" "598" "0" "601" "0" "c.598_601del" "" "p.(Gly201Metfs*8)" "r.(?)" "" "" "" "" "" "-" "0000018338" "00000351" "00" "1218" "0" "1218" "0" "n.1218C>G" "" "" "" "" "" "" "" "" "-" "0000018338" "00000352" "00" "612" "0" "612" "0" "c.612C>G" "" "p.(Phe204Leu)" "r.(?)" "" "" "" "" "" "-" "0000018339" "00000351" "00" "1262" "0" "1262" "0" "n.1262T>G" "" "" "" "" "" "" "" "" "-" "0000018339" "00000352" "00" "656" "0" "656" "0" "c.656T>G" "" "p.(Leu219*)" "r.(?)" "" "" "" "" "" "-" "0000018340" "00000351" "00" "1364" "0" "1364" "0" "n.1364C>T" "" "" "" "" "" "" "" "" "-" "0000018340" "00000352" "00" "758" "0" "758" "0" "c.758C>T" "" "p.(Pro253Leu)" "r.(?)" "" "" "" "" "" "-" "0000018341" "00000351" "00" "1387" "0" "1387" "0" "n.1387G>A" "" "" "" "" "" "" "" "" "-" "0000018341" "00000352" "00" "781" "0" "781" "0" "c.781G>A" "" "p.(Glu261Lys)" "r.(?)" "" "" "" "" "" "-" "0000018342" "00000351" "00" "1423" "0" "1423" "0" "n.1423G>T" "" "" "" "" "" "" "" "" "-" "0000018342" "00000352" "00" "817" "0" "817" "0" "c.817G>T" "" "p.(Glu273*)" "r.(?)" "" "" "" "" "" "-" "0000018343" "00000351" "00" "1435" "0" "1435" "0" "n.1435C>T" "" "" "" "" "" "" "" "" "-" "0000018343" "00000352" "00" "829" "0" "829" "0" "c.829C>T" "" "p.(Gln277*)" "r.(?)" "" "" "" "" "" "-" "0000018344" "00000351" "00" "1600" "3" "1600" "3" "n.1600+3A>T" "" "" "" "" "" "" "" "" "-" "0000018344" "00000352" "00" "994" "3" "994" "3" "c.994+3A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018345" "00000351" "00" "1647" "0" "1647" "0" "n.1647A>G" "" "" "" "" "" "" "" "" "-" "0000018345" "00000352" "00" "1041" "0" "1041" "0" "c.1041A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018346" "00000351" "00" "1661" "0" "1663" "0" "n.1661_1663del" "" "" "" "" "" "" "" "" "-" "0000018346" "00000352" "00" "1055" "0" "1057" "0" "c.1055_1057del" "" "p.(Lys352_Asp353delinsAsn)" "r.(?)" "" "" "" "" "" "-" "0000018347" "00000351" "00" "1776" "0" "1776" "0" "n.1776G>A" "" "" "" "" "" "" "" "" "-" "0000018347" "00000352" "00" "1170" "0" "1170" "0" "c.*27G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018348" "00000351" "00" "1795" "0" "1795" "0" "n.1795T>C" "" "" "" "" "" "" "" "" "-" "0000018348" "00000352" "00" "1189" "0" "1189" "0" "c.*46T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018349" "00000351" "00" "2046" "0" "2046" "0" "n.2046G>A" "" "" "" "" "" "" "" "" "-" "0000018349" "00000352" "00" "1440" "0" "1440" "0" "c.*297G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018350" "00000351" "00" "2050" "0" "2050" "0" "n.2050G>A" "" "" "" "" "" "" "" "" "-" "0000018350" "00000352" "00" "1444" "0" "1444" "0" "c.*301G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018351" "00000351" "00" "2084" "0" "2084" "0" "n.2084C>T" "" "" "" "" "" "" "" "" "-" "0000018351" "00000352" "00" "1478" "0" "1478" "0" "c.*335C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018352" "00000351" 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