### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MUTYH) # 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}}" "MUTYH" "mutY homolog" "1" "p34.1" "unknown" "NC_000001.10" "UD_132085237955" "" "" "" "1" "1" "7527" "4595" "604933" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "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 = 6 "{{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}}" "00000923" "MUTYH" "mutY homolog (E. coli), transcript variant alpha3" "001" "NM_001048171.1" "" "NP_001041636.1" "" "" "" "-216" "1672" "1608" "45806142" "45794914" "00001" "2013-11-12 21:49:23" "" "" "" "1" "00000924" "MUTYH" "mutY homolog (E. coli), transcript variant alpha1" "002" "NM_012222.2" "" "NP_036354.1" "" "" "" "-216" "1705" "1641" "45806142" "45794914" "00001" "2013-11-12 21:49:23" "" "" "" "1" "00000925" "MUTYH" "mutY homolog (E. coli), transcript variant alpha5" "003" "NM_001128425.1" "" "NP_001121897.1" "" "" "" "-216" "1714" "1650" "45806142" "45794914" "00001" "2013-11-12 21:49:23" "" "" "" "1" "00000926" "MUTYH" "mutY homolog (E. coli), transcript variant gamma3" "004" "NM_001048173.1" "" "NP_001041638.1" "" "" "" "-146" "1630" "1566" "45805787" "45794914" "00001" "2013-11-12 21:49:23" "" "" "" "1" "00000927" "MUTYH" "mutY homolog (E. coli), transcript variant gamma2" "005" "NM_001048172.1" "" "NP_001041637.1" "" "" "" "-146" "1633" "1569" "45805787" "45794914" "00001" "2013-11-12 21:49:23" "" "" "" "1" "00000928" "MUTYH" "mutY homolog (E. coli), transcript variant beta3" "006" "NM_001048174.1" "" "NP_001041639.1" "" "" "" "-65" "1630" "1566" "45805629" "45794914" "00001" "2013-11-12 21:49:23" "" "" "" "1" ## 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 = 1 "{{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}}" "0000023579" "0" "00" "1" "45796220" "45796220" "subst" "49" "0" "00001" "9" "00001" "2018-11-26 09:58:54" "00000" "2021-05-31 12:17:54" "MUTYH_000001" "g.45796220C>T" "" "" "" "" "" "0" ";" "" "" "" "" "" "" "" ## 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 = 6 "{{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}}" "0000023579" "00000923" "00" "1444" "0" "1444" "0" "c.1444G>A" "" "p.(Val482Met)" "r.(?)" "" "" "" "" "" "-" "0000023579" "00000924" "00" "1477" "0" "1477" "0" "c.1477G>A" "" "p.(Val493Met)" "r.(?)" "" "" "" "" "" "-" "0000023579" "00000925" "00" "1486" "0" "1486" "0" "c.1486G>A" "" "p.(Val496Met)" "r.(?)" "" "" "" "" "" "-" "0000023579" "00000926" "00" "1402" "0" "1402" "0" "c.1402G>A" "" "p.(Val468Met)" "r.(?)" "" "" "" "" "" "-" "0000023579" "00000927" "00" "1405" "0" "1405" "0" "c.1405G>A" "" "p.(Val469Met)" "r.(?)" "" "" "" "" "" "-" "0000023579" "00000928" "00" "1402" "0" "1402" "0" "c.1402G>A" "" "p.(Val468Met)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0