### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FASTKD2) # 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}}" "FASTKD2" "FAST kinase domains 2" "2" "q33.3" "unknown" "NC_000002.11" "UD_132084470406" "" "" "" "1" "1" "29160" "22868" "612322" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.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 13:44:12" "" "" "" "" "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 = 3 "{{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}}" "00000128" "FASTKD2" "transcript variant 1" "001" "NM_001136194.1" "" "NP_001129666.1" "" "" "" "-425" "6520" "2133" "207630112" "207660913" "00001" "2013-11-07 13:48:42" "" "" "" "2" "00000129" "FASTKD2" "transcript variant 2" "002" "NM_001136193.1" "" "NP_001129665.1" "" "" "" "-410" "6520" "2133" "207630112" "207660913" "00001" "2013-11-07 13:48:42" "" "" "" "2" "00000130" "FASTKD2" "transcript variant 3" "003" "NM_014929.3" "" "NP_055744.2" "" "" "" "-317" "6520" "2133" "207630112" "207660913" "00001" "2013-11-07 13:48:42" "" "" "" "2" ## 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}}" "00012" "220110" "Mitochondrial complex IV deficiency, 220110 (3)" "220110" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FASTKD2" "00012" ## 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 = 84 "{{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}}" "0000000855" "0" "99" "2" "207638988" "207638988" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 09:35:37" "FASTKD2_000001" "g.207638988C>T" "" "{PMID:18771761:18771761}" "" "rs118203917" "subst" "0" "; clinVar; Ensembl;" "4.790" "" "" "" "" "MSCV_0000855" "" "0000019384" "0" "55" "2" "207630251" "207630251" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-10 20:23:35" "FASTKD2_000081" "g.207630251T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019384" "" "0000019385" "0" "55" "2" "207630302" "207630302" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:55:49" "FASTKD2_000078" "g.207630302G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019385" "" "0000019386" "0" "55" "2" "207630306" "207630306" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:00:24" "FASTKD2_000079" "g.207630306T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019386" "" "0000019387" "0" "33" "2" "207630338" "207630338" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:41:31" "FASTKD2_000080" "g.207630338C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019387" "" "0000019388" "0" "55" "2" "207630341" "207630341" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:18:30" "FASTKD2_000064" "g.207630341G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019388" "" "0000019389" "0" "77" "2" "207630360" "207630360" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:33:08" "FASTKD2_000065" "g.207630360C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019389" "" "0000019390" "0" "55" "2" "207630392" "207630392" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:36:51" "FASTKD2_000066" "g.207630392G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019390" "" "0000019391" "0" "55" "2" "207631381" "207631381" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:41:36" "FASTKD2_000067" "g.207631381C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019391" "" "0000019392" "0" "77" "2" "207631388" "207631388" "subst" "35" "0.00230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:54:42" "FASTKD2_000068" "g.207631388T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019392" "" "0000019393" "0" "55" "2" "207631403" "207631403" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:18:54" "FASTKD2_000069" "g.207631403A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019393" "" "0000019394" "0" "33" "2" "207631461" "207631461" "subst" "35" "0.132785" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:17:44" "FASTKD2_000070" "g.207631461G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019394" "" "0000019395" "0" "55" "2" "207631642" "207631642" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:15:54" "FASTKD2_000071" "g.207631642A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019395" "" "0000019396" "0" "55" "2" "207631944" "207631944" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:37:09" "FASTKD2_000072" "g.207631944C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019396" "" "0000019397" "0" "55" "2" "207632019" "207632019" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:35:22" "FASTKD2_000073" "g.207632019G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019397" "" "0000019398" "0" "55" "2" "207634869" "207634869" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:14:35" "FASTKD2_000074" "g.207634869G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019398" "" "0000019399" "0" "77" "2" "207636605" "207636605" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-07 12:58:07" "FASTKD2_000075" "g.207636605G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019399" "" "0000019400" "0" "99" "2" "207638988" "207638988" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:16:29" "FASTKD2_000001" "g.207638988C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000855" "" "0000019401" "0" "77" "2" "207638989" "207638989" "subst" "35" "0.000153894" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:52:51" "FASTKD2_000076" "g.207638989G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019401" "" "0000019402" "0" "55" "2" "207651444" "207651444" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:16:07" "FASTKD2_000077" "g.207651444C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019402" "" "0000019403" "0" "55" "2" "207652844" "207652844" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:36:32" "FASTKD2_000062" "g.207652844C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019403" "" "0000019404" "0" "55" "2" "207655389" "207655389" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:37:31" "FASTKD2_000063" "g.207655389A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019404" "" "0000019405" "0" "55" "2" "207656411" "207656411" "subst" "35" "0.00130709" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:56:18" "FASTKD2_000052" "g.207656411A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019405" "" "0000019406" "0" "55" "2" "207656467" "207656467" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:15:11" "FASTKD2_000053" "g.207656467A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019406" "" "0000019407" "0" "77" "2" "207656486" "207656486" "subst" "35" "0.00269107" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:37:15" "FASTKD2_000054" "g.207656486C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019407" "" "0000019408" "0" "55" "2" "207656584" "207656584" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:15:31" "FASTKD2_000012" "g.207656584G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019408" "" "0000019409" "0" "55" "2" "207656613" "207656613" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:55:16" "FASTKD2_000013" "g.207656613A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019409" "" "0000019410" "0" "55" "2" "207656685" "207656685" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:41:21" "FASTKD2_000014" "g.207656685C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019410" "" "0000019411" "0" "55" "2" "207656925" "207656925" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:42:38" "FASTKD2_000015" "g.207656925T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019411" "" "0000019412" "0" "55" "2" "207656977" "207656977" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:57:07" "FASTKD2_000016" "g.207656977C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019412" "" "0000019413" "0" "33" "2" "207657083" "207657083" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:17:50" "FASTKD2_000017" "g.207657083A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019413" "" "0000019414" "0" "55" "2" "207657111" "207657111" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:33:16" "FASTKD2_000018" "g.207657111G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019414" "" "0000019415" "0" "55" "2" "207657150" "207657150" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:33:31" "FASTKD2_000019" "g.207657150C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019415" "" "0000019416" "0" "33" "2" "207657153" "207657153" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:56:09" "FASTKD2_000020" "g.207657153T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019416" "" "0000019417" "0" "33" "2" "207657198" "207657198" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:55:57" "FASTKD2_000021" "g.207657198T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019417" "" "0000019418" "0" "55" "2" "207657536" "207657536" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-05-13 16:19:46" "FASTKD2_000022" "g.207657536T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019418" "" "0000019419" "0" "55" "2" "207657562" "207657562" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:36:15" "FASTKD2_000023" "g.207657562C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019419" "" "0000019420" "0" "55" "2" "207657685" "207657685" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:18:16" "FASTKD2_000024" "g.207657685G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019420" "" "0000019421" "0" "55" "2" "207657706" "207657706" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-28 08:04:37" "FASTKD2_000025" "g.207657706G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019421" "" "0000019422" "0" "55" "2" "207657728" "207657728" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:34:39" "FASTKD2_000026" "g.207657728A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019422" "" "0000019423" "0" "33" "2" "207657741" "207657741" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:54:58" "FASTKD2_000011" "g.207657741G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019423" "" "0000019424" "0" "00" "2" "207657790" "207657791" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:59:42" "FASTKD2_000027" "g.207657790_207657791insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019424" "" "0000019425" "0" "55" "2" "207657861" "207657861" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:16:33" "FASTKD2_000028" "g.207657861G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019425" "" "0000019426" "0" "55" "2" "207657871" "207657871" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:17:06" "FASTKD2_000029" "g.207657871G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019426" "" "0000019427" "0" "00" "2" "207657945" "207657956" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:52:47" "FASTKD2_000006" "g.207657945_207657956del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019427" "" "0000019428" "0" "55" "2" "207657972" "207657972" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-18 06:10:21" "FASTKD2_000030" "g.207657972A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019428" "" "0000019429" "0" "55" "2" "207657978" "207657978" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:59:13" "FASTKD2_000031" "g.207657978C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019429" "" "0000019430" "0" "33" "2" "207658000" "207658001" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:35:52" "FASTKD2_000032" "g.207658000_207658001insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019430" "" "0000019431" "0" "00" "2" "207658044" "207658045" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:57:21" "FASTKD2_000033" "g.207658044_207658045insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019431" "" "0000019432" "0" "55" "2" "207658147" "207658147" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:36:21" "FASTKD2_000034" "g.207658147A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019432" "" "0000019433" "0" "55" "2" "207658507" "207658507" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:59:27" "FASTKD2_000007" "g.207658507C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019433" "" "0000019434" "0" "00" "2" "207658532" "207658533" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-07 08:43:22" "FASTKD2_000008" "g.207658532_207658533del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019434" "" "0000019435" "0" "33" "2" "207658595" "207658595" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:54:20" "FASTKD2_000055" "g.207658595T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019435" "" "0000019436" "0" "00" "2" "207658633" "207658633" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:59:08" "FASTKD2_000009" "g.207658633del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019436" "" "0000019437" "0" "55" "2" "207658824" "207658824" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:33:35" "FASTKD2_000010" "g.207658824C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019437" "" "0000019438" "0" "55" "2" "207658842" "207658842" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:16:39" "FASTKD2_000056" "g.207658842G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019438" "" "0000019439" "0" "00" "2" "207658847" "207658848" "ins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-28 08:04:37" "FASTKD2_000002" "g.207658847_207658848insAC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019439" "" "0000019440" "0" "55" "2" "207658857" "207658857" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:17:31" "FASTKD2_000057" "g.207658857C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019440" "" "0000019441" "0" "55" "2" "207658954" "207658954" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-05-02 14:38:48" "FASTKD2_000058" "g.207658954G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019441" "" "0000019442" "0" "55" "2" "207658957" "207658957" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:41:11" "FASTKD2_000059" "g.207658957C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019442" "" "0000019443" "0" "33" "2" "207659014" "207659014" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:42:29" "FASTKD2_000060" "g.207659014T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019443" "" "0000019444" "0" "55" "2" "207659156" "207659156" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:15:47" "FASTKD2_000061" "g.207659156G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019444" "" "0000019445" "0" "55" "2" "207659402" "207659402" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:53:50" "FASTKD2_000049" "g.207659402A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019445" "" "0000019446" "0" "55" "2" "207659486" "207659486" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-15 07:12:39" "FASTKD2_000003" "g.207659486T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019446" "" "0000019447" "0" "33" "2" "207659531" "207659531" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:17:55" "FASTKD2_000050" "g.207659531A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019447" "" "0000019448" "0" "55" "2" "207659606" "207659606" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:19:04" "FASTKD2_000051" "g.207659606C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019448" "" "0000019449" "0" "55" "2" "207659638" "207659638" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:58:23" "FASTKD2_000035" "g.207659638A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019449" "" "0000019450" "0" "55" "2" "207659764" "207659764" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:54:12" "FASTKD2_000036" "g.207659764G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019450" "" "0000019451" "0" "55" "2" "207659881" "207659881" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:41:49" "FASTKD2_000037" "g.207659881C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019451" "" "0000019452" "0" "55" "2" "207659906" "207659906" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:37:26" "FASTKD2_000038" "g.207659906G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019452" "" "0000019453" "0" "55" "2" "207659998" "207659998" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:14:39" "FASTKD2_000039" "g.207659998C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019453" "" "0000019454" "0" "55" "2" "207660118" "207660118" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:33:49" "FASTKD2_000040" "g.207660118C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019454" "" "0000019455" "0" "55" "2" "207660119" "207660119" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:17:13" "FASTKD2_000041" "g.207660119G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019455" "" "0000019456" "0" "55" "2" "207660209" "207660209" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:59:02" "FASTKD2_000042" "g.207660209G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019456" "" "0000019457" "0" "55" "2" "207660236" "207660236" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:00:01" "FASTKD2_000043" "g.207660236C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019457" "" "0000019458" "0" "55" "2" "207660301" "207660301" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:41:26" "FASTKD2_000044" "g.207660301C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019458" "" "0000019459" "0" "55" "2" "207660422" "207660422" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:37:51" "FASTKD2_000045" "g.207660422A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019459" "" "0000019460" "0" "55" "2" "207660516" "207660516" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:59:54" "FASTKD2_000046" "g.207660516G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019460" "" "0000019461" "0" "55" "2" "207660668" "207660668" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:59:35" "FASTKD2_000047" "g.207660668T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019461" "" "0000019462" "0" "55" "2" "207660725" "207660725" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:58:17" "FASTKD2_000048" "g.207660725G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019462" "" "0000019463" "0" "55" "2" "207660727" "207660727" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:34:04" "FASTKD2_000004" "g.207660727C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019463" "" "0000019464" "0" "55" "2" "207660886" "207660886" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:54:38" "FASTKD2_000005" "g.207660886A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019464" "" "0000025788" "0" "00" "2" "207636645" "207636645" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:16:53" "FASTKD2_000082" "g.207636645del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025789" "0" "00" "2" "207652756" "207652756" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:17:06" "FASTKD2_000083" "g.207652756C>T" "" "" "" "" "" "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 = 252 "{{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}}" "0000000855" "00000128" "99" "1294" "0" "1294" "0" "c.1294C>T" "7/12" "p.(Arg432*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000855" "00000129" "99" "1294" "0" "1294" "0" "c.1294C>T" "7/12" "p.(Arg432*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000855" "00000130" "99" "1294" "0" "1294" "0" "c.1294C>T" "7/12" "p.?" "r.?" "-" "" "stop_gained" "" "" "-" "0000019384" "00000128" "00" "-286" "0" "-286" "0" "c.-286T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019384" "00000129" "00" "-271" "0" "-271" "0" "c.-271T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019384" "00000130" "00" "-178" "0" "-178" "0" "c.-178T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019385" "00000128" "00" "-235" "0" "-235" "0" "c.-235G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019385" "00000129" "00" "-220" "0" "-220" "0" "c.-220G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019385" "00000130" "00" "-127" "0" "-127" "0" "c.-127G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019386" "00000128" "00" "-231" "0" "-231" "0" "c.-231T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019386" "00000129" "00" "-216" "0" "-216" "0" "c.-216T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019386" "00000130" "00" "-123" "0" "-123" "0" "c.-123T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019387" "00000128" "00" "-199" "0" "-199" "0" "c.-199C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019387" "00000129" "00" "-184" "0" "-184" "0" "c.-184C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019387" "00000130" "00" "-91" "0" "-91" "0" "c.-91C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019388" "00000128" "00" "-196" "0" "-196" "0" "c.-196G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019388" "00000129" "00" "-181" "0" "-181" "0" "c.-181G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019388" "00000130" "00" "-88" "0" "-88" "0" "c.-88G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019389" "00000128" "00" "-177" "0" "-177" "0" "c.-177C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019389" "00000129" "00" "-162" "0" "-162" "0" "c.-162C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019389" "00000130" "00" "-69" "0" "-69" "0" "c.-69C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019390" "00000128" "00" "-145" "0" "-145" "0" "c.-145G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019390" "00000129" "00" "-130" "0" "-130" "0" "c.-130G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019390" "00000130" "00" "-51" "14" "-51" "14" "c.-51+14G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019391" "00000128" "00" "-37" "0" "-37" "0" "c.-37C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019391" "00000129" "00" "-37" "0" "-37" "0" "c.-37C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019391" "00000130" "00" "-37" "0" "-37" "0" "c.-37C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019392" "00000128" "00" "-30" "0" "-30" "0" "c.-30T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019392" "00000129" "00" "-30" "0" "-30" "0" "c.-30T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019392" "00000130" "00" "-30" "0" "-30" "0" "c.-30T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019393" "00000128" "00" "-15" "0" "-15" "0" "c.-15A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019393" "00000129" "00" "-15" "0" "-15" "0" "c.-15A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019393" "00000130" "00" "-15" "0" "-15" "0" "c.-15A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019394" "00000128" "00" "44" "0" "44" "0" "c.44G>A" "" "p.(Ser15Asn)" "r.(?)" "" "" "" "" "" "-" "0000019394" "00000129" "00" "44" "0" "44" "0" "c.44G>A" "" "p.(Ser15Asn)" "r.(?)" "" "" "" "" "" "-" "0000019394" "00000130" "00" "44" "0" "44" "0" "c.44G>A" "" "p.(Ser15Asn)" "r.(?)" "" "" "" "" "" "-" "0000019395" "00000128" "00" "225" "0" "225" "0" "c.225A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019395" "00000129" "00" "225" "0" "225" "0" "c.225A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019395" "00000130" "00" "225" "0" "225" "0" "c.225A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019396" "00000128" "00" "527" "0" "527" "0" "c.527C>T" "" "p.(Ala176Val)" "r.(?)" "" "" "" "" "" "-" "0000019396" "00000129" "00" "527" "0" "527" "0" "c.527C>T" "" "p.(Ala176Val)" "r.(?)" "" "" "" "" "" "-" "0000019396" "00000130" "00" "527" "0" "527" "0" "c.527C>T" "" "p.(Ala176Val)" "r.(?)" "" "" "" "" "" "-" "0000019397" "00000128" "00" "602" "0" "602" "0" "c.602G>A" "" "p.(Arg201His)" "r.(?)" "" "" "" "" "" "-" "0000019397" "00000129" "00" "602" "0" "602" "0" "c.602G>A" "" "p.(Arg201His)" "r.(?)" "" "" "" "" "" "-" "0000019397" "00000130" "00" "602" "0" "602" "0" "c.602G>A" "" "p.(Arg201His)" "r.(?)" "" "" "" "" "" "-" "0000019398" "00000128" "00" "832" "0" "832" "0" "c.832G>A" "" "p.(Glu278Lys)" "r.(?)" "" "" "" "" "" "-" "0000019398" "00000129" "00" "832" "0" "832" "0" "c.832G>A" "" "p.(Glu278Lys)" "r.(?)" "" "" "" "" "" "-" "0000019398" "00000130" "00" "832" "0" "832" "0" "c.832G>A" "" "p.(Glu278Lys)" "r.(?)" "" "" "" "" "" "-" "0000019399" "00000128" "00" "991" "-13" "991" "-13" "c.991-13G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019399" "00000129" "00" "991" "-13" "991" "-13" "c.991-13G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019399" "00000130" "00" "991" "-13" "991" "-13" "c.991-13G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019400" "00000128" "00" "1294" "0" "1294" "0" "c.1294C>T" "" "p.(Arg432*)" "r.(?)" 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"c.*1419_*1430del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019427" "00000130" "00" "3552" "0" "3563" "0" "c.*1419_*1430del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019428" "00000128" "00" "3579" "0" "3579" "0" "c.*1446A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019428" "00000129" "00" "3579" "0" "3579" "0" "c.*1446A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019428" "00000130" "00" "3579" "0" "3579" "0" "c.*1446A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019429" "00000128" "00" "3585" "0" "3585" "0" "c.*1452C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019429" "00000129" "00" "3585" "0" "3585" "0" "c.*1452C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019429" "00000130" "00" "3585" "0" "3585" "0" "c.*1452C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019430" "00000128" "00" "3607" "0" "3608" "0" "c.*1474_*1475insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019430" "00000129" "00" "3607" "0" "3608" "0" "c.*1474_*1475insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" 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