### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ETFDH) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "ETFDH" "electron transfer flavoprotein dehydrogenase" "4" "q32.1" "unknown" "NC_000004.11" "UD_144475614544" "" "" "" "1" "3483" "2110" "231675" "0" "0" "0" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00006" "2022-01-16 00:00:00" "00006" "2023-01-22 17:44:14" "00006" "2023-07-02 22:18:28" ## 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}}" "00000143" "ETFDH" "electron-transferring-flavoprotein dehydrogenase, transcript variant 1" "001" "NM_004453.2" "" "NP_004444.2" "" "" "" "-332" "2017" "1854" "159593277" "159629842" "00006" "2022-01-16 10:12:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00016" "MADD" "Multiple acyl-CoA dehydrogenase deficiency" "" "231680" "liver" "" "" "00006" "2022-01-16 10:10:27" "" "" "00019" "WD" "wilson disease" "AR" "277900" "brain" "liver dysfunction, neurological features (like tremor, parkinsonism, dystornia, etc.), Kayser-Fleischer rings, chondrocalcinosis and osteoarthritis..." "low ceruloplasmin, Kayser-Fleischer rings, abnormalities of the basal ganglia..." "00009" "2023-08-21 15:46:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ETFDH" "00016" "ETFDH" "00019" ## 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 ## ## Note: Only showing Phenotype columns active for Diseases 00016, 00019 ## 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 = 143 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Type}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/classclinical}}" "0000016420" "0" "99" "4" "159593611" "159593611" "subst" "" "00006" "ETFDH_000002" "g.159593611G>C" "3/671" "" "Substitution" "" "" "0000016421" "0" "55" "4" "159601649" "159601649" "subst" "" "00006" "ETFDH_000004" "g.159601649A>G" "4/671" "" "Substitution" "" "" "0000016422" "0" "55" "4" "159601736" "159601736" "subst" "" "00006" "ETFDH_000006" "g.159601736G>A" "2/671" "" "Substitution" "" "" "0000016423" "0" "77" "4" "159601756" "159601756" "subst" "" "00006" "ETFDH_000007" "g.159601756G>T" "1/671" "" "Substitution" "" "" "0000016424" "0" "55" "4" "159603362" "159603362" "subst" "" "00006" "ETFDH_000012" "g.159603362G>A" "2/671" "" "Substitution" "" "" "0000016425" "0" "77" "4" "159603362" "159603362" "subst" "" "00006" "ETFDH_000014" "g.159603362G>A" "5/671" "" "Substitution" "" "" "0000016426" "0" "99" "4" "159603413" "159603413" "subst" "" "00006" "ETFDH_000016" "g.159603413T>C" "10/671" "" "Substitution" "" "" "0000016427" "0" "99" "4" "159603421" "159603421" "subst" "" "00006" "ETFDH_000017" "g.159603421G>A" "200/671" "" "Substitution" "" "" "0000016428" "0" "77" "4" "159603466" "159603466" "subst" "" "00006" "ETFDH_000021" "g.159603466C>T" "5/671" "" "Substitution" "" "" "0000016429" "0" "77" "4" "159603474" "159603474" "subst" "" "00006" "ETFDH_000022" "g.159603474T>A" "3/671" "" "Substitution" "" "" "0000016430" "0" "55" "4" "159603520" "159603520" "subst" "" "00006" "ETFDH_000025" "g.159603520G>C" "1/671" "" "Substitution" "" "" "0000016431" "0" "77" "4" "159603524" "159603524" "subst" "" "00006" "ETFDH_000026" "g.159603524G>T" "5/671" "" "Substitution" "" "" "0000016432" "0" "55" "4" "159603551" "159603551" "subst" "" "00006" "ETFDH_000029" "g.159603551T>C" "4/671" "" "Substitution" "" "" "0000016433" "0" "55" "4" "159603554" "159603554" "subst" "" "00006" "ETFDH_000030" "g.159603554T>C" "1/671" "" "Substitution" "" "" "0000016434" "0" "99" "4" "159603560" "159603560" "subst" "" "00006" "ETFDH_000031" "g.159603560A>T" "33/671" "" "Substitution" "" "" "0000016435" "0" "55" "4" "159603564" "159603564" "subst" "" "00006" "ETFDH_000032" "g.159603564G>C" "1/671" "" "Substitution" "" "" "0000016436" "0" "77" "4" "159603577" "159603577" "subst" "" "00006" "ETFDH_000033" "g.159603577G>T" "1/671" "" "Substitution" "" "" "0000016438" "0" "55" "4" "159605771" "159605771" "subst" "" "00006" "ETFDH_000038" "g.159605771G>C" "1/671" "" "Substitution" "" "" "0000016439" "0" "77" "4" "159605787" "159605791" "del" "" "00006" "ETFDH_000039" "g.159605787_159605791del" "1/671" "" "Deletion" "" "" "0000016440" "0" "77" "4" "159605791" "159605791" "del" "" "00006" "ETFDH_000040" "g.159605791del" "1/671" "" "Deletion" "" "" "0000016441" "0" "55" "4" "159606244" "159606244" "subst" "" "00006" "ETFDH_000043" "g.159606244T>C" "1/671" "" "Substitution" "" "" "0000016442" "0" "55" "4" "159606283" "159606283" "subst" "" "00006" "ETFDH_000047" "g.159606283T>G" "2/671" "" "Substitution" "" "" "0000016443" "0" "99" "4" "159606289" "159606289" "subst" "" "00006" "ETFDH_000049" "g.159606289G>A" "19/671" "" "Substitution" "" "" "0000016444" "0" "55" "4" "159611516" "159611519" "del" "" "00006" "ETFDH_000054" "g.159611516_159611519del" "1/671" "" "Deletion" "" "" "0000016445" "0" "55" "4" "159611536" "159611536" "subst" "" "00006" "ETFDH_000055" "g.159611536G>A" "4/671" "" "Substitution" "" "" "0000016446" "0" "77" "4" "159611578" "159611578" "subst" "" "00006" "ETFDH_000057" "g.159611578G>A" "1/671" "" "Substitution" "" "" "0000016447" "0" "77" "4" "159611578" "159611578" "subst" "" "00006" "ETFDH_000056" "g.159611578G>T" "1/671" "" "Substitution" "" "" "0000016448" "0" "55" "4" "159616679" "159616679" "subst" "" "00006" "ETFDH_000059" "g.159616679G>A" "2/671" "" "Substitution" "" "" "0000016449" "0" "77" "4" "159616700" "159616700" "subst" "" "00006" "ETFDH_000060" "g.159616700G>A" "5/671" "" "Substitution" "" "" "0000016450" "0" "99" "4" "159616734" "159616734" "subst" "" "00006" "ETFDH_000062" "g.159616734A>G" "70/671" "" "Substitution" "" "" "0000016451" "0" "55" "4" "159616785" "159616785" "subst" "" "00006" "ETFDH_000065" "g.159616785G>A" "2/671" "" "Substitution" "" "" "0000016452" "0" "77" "4" "159616797" "159616797" "subst" "" "00006" "ETFDH_000066" "g.159616797T>C" "1/671" "" "Substitution" "" "" "0000016453" "0" "77" "4" "159618751" "159618751" "subst" "" "00006" "ETFDH_000069" "g.159618751T>G" "7/671" "" "Substitution" "" "" "0000016454" "0" "55" "4" "159618771" "159618771" "subst" "" "00006" "ETFDH_000070" "g.159618771C>T" "1/671" "" "Substitution" "" "" "0000016455" "0" "55" "4" "159618828" "159618828" "subst" "" "00006" "ETFDH_000072" "g.159618828C>A" "1/671" "" "Substitution" "" "" "0000016457" "0" "55" "4" "159620148" "159620148" "subst" "" "00006" "ETFDH_000076" "g.159620148G>C" "1/671" "" "Substitution" "" "" "0000016458" "0" "55" "4" "159620159" "159620159" "subst" "" "00006" "ETFDH_000079" "g.159620159T>G" "2/671" "" "Substitution" "" "" "0000016459" "0" "55" "4" "159620164" "159620164" "subst" "" "00006" "ETFDH_000080" "g.159620164A>G" "4/671" "" "Substitution" "" "" "0000016460" "0" "55" "4" "159620250" "159620250" "subst" "" "00006" "ETFDH_000085" "g.159620250G>A" "2/671" "" "Substitution" "" "" "0000016461" "0" "55" "4" "159624615" "159624615" "subst" "" "00006" "ETFDH_000089" "g.159624615G>A" "1/671" "" "Substitution" "" "" "0000016462" "0" "99" "4" "159624669" "159624669" "subst" "" "00006" "ETFDH_000093" "g.159624669T>C" "12/671" "" "Substitution" "" "" "0000016463" "0" "99" "4" "159624685" "159624685" "subst" "" "00006" "ETFDH_000095" "g.159624685A>C" "44/671" "" "Substitution" "" "" "0000016464" "0" "77" "4" "159624713" "159624716" "del" "" "00006" "ETFDH_000096" "g.159624713_159624716del" "1/671" "" "Deletion" "" "" "0000016465" "0" "77" "4" "159624713" "159624716" "del" "" "00006" "ETFDH_000104" "g.159624713_159624716del" "1/671" "" "Deletion" "" "" "0000016466" "0" "77" "4" "159627450" "159627450" "subst" "" "00006" "ETFDH_000109" "g.159627450T>G" "15/671" "" "Substitution" "" "" "0000016467" "0" "77" "4" "159627454" "159627454" "subst" "" "00006" "ETFDH_000111" "g.159627454G>C" "5/671" "" "Substitution" "" "" "0000016468" "0" "55" "4" "159627455" "159627455" "subst" "" "00006" "ETFDH_000112" "g.159627455G>C" "1/671" "" "Substitution" "" "" "0000016469" "0" "55" "4" "159627491" "159627491" "subst" "" "00006" "ETFDH_000113" "g.159627491G>C" "1/671" "" "Substitution" "" "" "0000016470" "0" "55" "4" "159627503" "159627503" "subst" "" "00006" "ETFDH_000115" "g.159627503C>G" "1/671" "" "Substitution" "" "" "0000016471" "0" "77" "4" "159627505" "159627505" "subst" "" "00006" "ETFDH_000116" "g.159627505T>C" "13/671" "" "Substitution" "" "" "0000016472" "0" "77" "4" "159627509" "159627509" "subst" "" "00006" "ETFDH_000117" "g.159627509C>G" "4/671" "" "Substitution" "" "" "0000016473" "0" "55" "4" "159627826" "159627826" "subst" "" "00006" "ETFDH_000120" "g.159627826T>C" "3/671" "" "Substitution" "" "" "0000016474" "0" "55" "4" "159627843" "159627843" "subst" "" "00006" "ETFDH_000123" "g.159627843G>A" "4/671" "" "Substitution" "" "" "0000016475" "0" "55" "4" "159627898" "159627898" "subst" "" "00006" "ETFDH_000127" "g.159627898A>G" "3/671" "" "Substitution" "" "" "0000016476" "0" "77" "4" "159627987" "159627987" "subst" "" "00006" "ETFDH_000131" "g.159627987C>T" "3/671" "" "Substitution" "" "" "0000016477" "0" "77" "4" "159629513" "159629513" "subst" "" "00006" "ETFDH_000132" "g.159629513C>G" "6/671" "" "Substitution" "" "" "0000016478" "0" "77" "4" "159629542" "159629542" "subst" "" "00006" "ETFDH_000134" "g.159629542C>T" "1/671" "" "Substitution" "" "" "0000016479" "0" "55" "4" "159629569" "159629569" "subst" "" "00006" "ETFDH_000135" "g.159629569A>T" "1/671" "" "Substitution" "" "" "0000016480" "0" "55" "4" "159629588" "159629588" "subst" "" "00006" "ETFDH_000137" "g.159629588A>T" "3/671" "" "Substitution" "" "" "0000016481" "0" "77" "4" "159629598" "159629599" "del" "" "00006" "ETFDH_000138" "g.159629598_159629599del" "3/671" "" "Deletion" "" "" "0000016482" "0" "55" "4" "159629635" "159629635" "subst" "" "00006" "ETFDH_000139" "g.159629635G>T" "3/671" "" "Substitution" "" "" "0000016483" "0" "55" "4" "159629653" "159629653" "subst" "" "00006" "ETFDH_000141" "g.159629653G>A" "2/671" "" "Substitution" "" "" "0000016590" "0" "99" "4" "159593609" "159618817" "del" "" "00006" "ETFDH_000001" "g.159593609_159618817del" "1/671" "" "Deletion" "" "" "0000016591" "0" "55" "4" "159593534" "159593534" "subst" "" "00006" "ETFDH_000143" "g.159593534A>G" "1/671" "" "Substitution" "" "" "0000016592" "0" "55" "4" "159629656" "159629656" "subst" "" "00006" "ETFDH_000142" "g.159629656G>A" "2/671" "" "Substitution" "" "" "0000016593" "0" "77" "4" "159629638" "159629638" "del" "" "00006" "ETFDH_000140" "g.159629638delG" "1/671" "" "Deletion" "" "" "0000016594" "0" "55" "4" "159629577" "159629577" "subst" "" "00006" "ETFDH_000136" "g.159629577G>A" "2/671" "" "Substitution" "" "" "0000016595" "0" "55" "4" "159629519" "159629519" "subst" "" "00006" "ETFDH_000133" "g.159629519T>C" "1/671" "" "Substitution" "" "" "0000016596" "0" "55" "4" "159627979" "159627979" "subst" "" "00006" "ETFDH_000130" "g.159627979C>G" "1/671" "" "Substitution" "" "" "0000016597" "0" "55" "4" "159627969" "159627969" "subst" "" "00006" "ETFDH_000129" "g.159627969T>C" "3/671" "" "Substitution" "" "" "0000016598" "0" "55" "4" "159627913" "159627913" "subst" "" "00006" "ETFDH_000128" "g.159627913C>T" "1/671" "" "Substitution" "" "" "0000016599" "0" "77" "4" "159627895" "159627895" "dup" "" "00006" "ETFDH_000126" "g.159627895dup" "1/671" "" "Duplication" "" "" "0000016600" "0" "55" "4" "159627864" "159627864" "subst" "" "00006" "ETFDH_000125" "g.159627864C>G" "1/671" "" "Substitution" "" "" "0000016601" "0" "55" "4" "159627846" "159627846" "subst" "" "00006" "ETFDH_000124" "g.159627846G>A" "1/671" "" "Substitution" "" "" "0000016602" "0" "55" "4" "159627840" "159627840" "subst" "" "00006" "ETFDH_000122" "g.159627840C>T" "1/671" "" "Substitution" "" "" "0000016603" "0" "55" "4" "159627834" "159627834" "subst" "" "00006" "ETFDH_000121" "g.159627834C>A" "2/671" "" "Substitution" "" "" "0000016604" "0" "55" "4" "159627796" "159627796" "subst" "" "00006" "ETFDH_000119" "g.159627796G>C" "1/671" "" "Substitution" "" "" "0000016605" "0" "77" "4" "159627525" "159627525" "subst" "" "00006" "ETFDH_000118" "g.159627525T>G" "1/671" "" "Substitution" "" "" "0000016606" "0" "77" "4" "159627503" "159627503" "subst" "" "00006" "ETFDH_000114" "g.159627503C>T" "2/671" "" "Substitution" "" "" "0000016607" "0" "77" "4" "159627454" "159627454" "subst" "" "00006" "ETFDH_000110" "g.159627454G>A" "1/671" "" "Substitution" "" "" "0000016608" "0" "77" "4" "159627450" "159627450" "dup" "" "00006" "ETFDH_000108" "g.159627450dupT" "3/671" "" "Duplication" "" "" "0000016609" "0" "55" "4" "159627445" "159627445" "subst" "" "00006" "ETFDH_000107" "g.159627445G>A" "1/671" "" "Substitution" "" "" "0000016610" "0" "55" "4" "159627433" "159627433" "subst" "" "00006" "ETFDH_000106" "g.159627433G>A" "2/671" "" "Substitution" "" "" "0000016611" "0" "77" "4" "159627427" "159627430" "del" "" "00006" "ETFDH_000105" "g.159627427_159627430del" "1/671" "" "Deletion" "" "" "0000016612" "0" "55" "4" "159627406" "159627406" "subst" "" "00006" "ETFDH_000103" "g.159627406G>A" "1/671" "" "Substitution" "" "" "0000016613" "0" "55" "4" "159627368" "159627368" "subst" "" "00006" "ETFDH_000102" "g.159627368A>G" "1/671" "" "Substitution" "" "" "0000016614" "0" "77" "4" "159627355" "159627355" "del" "" "00006" "ETFDH_000101" "g.159627355delG" "1/671" "" "Deletion" "" "" "0000016615" "0" "55" "4" "159627350" "159627350" "subst" "" "00006" "ETFDH_000100" "g.159627350T>A" "1/671" "" "Substitution" "" "" "0000016616" "0" "77" "4" "159624745" "159624745" "subst" "" "00006" "ETFDH_000099" "g.159624745T>C" "1/671" "" "Substitution" "" "" "0000016617" "0" "77" "4" "159624739" "159624740" "del" "" "00006" "ETFDH_000098" "g.159624739_159624740del" "3/671" "" "Deletion" "" "" "0000016618" "0" "77" "4" "159624731" "159624734" "del" "" "00006" "ETFDH_000097" "g.159624731_159624734del" "2/671" "" "Deletion" "" "" "0000016619" "0" "77" "4" "159624678" "159624678" "dup" "" "00006" "ETFDH_000094" "g.159624678dup" "1/671" "" "Duplication" "" "" "0000016620" "0" "55" "4" "159624663" "159624663" "subst" "" "00006" "ETFDH_000092" "g.159624663C>T" "1/671" "" "Substitution" "" "" "0000016621" "0" "77" "4" "159624651" "159624651" "subst" "" "00006" "ETFDH_000091" "g.159624651A>G" "6/671" "" "Substitution" "" "" "0000016622" "0" "55" "4" "159624632" "159624632" "subst" "" "00006" "ETFDH_000090" "g.159624632A>G" "1/671" "" "Substitution" "" "" "0000016623" "0" "55" "4" "159624581" "159624581" "subst" "" "00006" "ETFDH_000088" "g.159624581C>A" "3/671" "" "Substitution" "" "" "0000016624" "0" "55" "4" "159620273" "159620273" "subst" "" "00006" "ETFDH_000087" "g.159620273T>G" "1/671" "" "Substitution" "" "" "0000016625" "0" "55" "4" "159620265" "159620265" "subst" "" "00006" "ETFDH_000086" "g.159620265A>G" "2/671" "" "Substitution" "" "" "0000016626" "0" "55" "4" "159620247" "159620247" "subst" "" "00006" "ETFDH_000084" "g.159620247T>A" "1/671" "" "Substitution" "" "" "0000016627" "0" "55" "4" "159620193" "159620193" "subst" "" "00006" "ETFDH_000083" "g.159620193T>C" "1/671" "" "Substitution" "" "" "0000016628" "0" "55" "4" "159620192" "159620192" "subst" "" "00006" "ETFDH_000082" "g.159620192G>T" "1/671" "" "Substitution" "" "" "0000016629" "0" "55" "4" "159620173" "159620173" "subst" "" "00006" "ETFDH_000081" "g.159620173C>T" "1/671" "" "Substitution" "" "" "0000016630" "0" "55" "4" "159620158" "159620158" "subst" "" "00006" "ETFDH_000078" "g.159620158A>T" "1/671" "" "Substitution" "" "" "0000016631" "0" "55" "4" "159620151" "159620151" "subst" "" "00006" "ETFDH_000077" "g.159620151T>C" "1/671" "" "Substitution" "" "" "0000016632" "0" "77" "4" "159620140" "159624743" "del" "" "00006" "ETFDH_000075" "g.159620140_159624743del" "1/671" "" "Deletion" "" "" "0000016633" "0" "55" "4" "159618849" "159618849" "subst" "" "00006" "ETFDH_000074" "g.159618849G>T" "1/671" "" "Substitution" "" "" "0000016634" "0" "55" "4" "159618832" "159618832" "subst" "" "00006" "ETFDH_000073" "g.159618832T>C" "1/671" "" "Substitution" "" "" "0000016635" "0" "99" "4" "159618799" "159618799" "subst" "" "00006" "ETFDH_000071" "g.159618799C>G" "7/671" "" "Substitution" "" "" "0000016636" "0" "55" "4" "159618714" "159618714" "subst" "" "00006" "ETFDH_000068" "g.159618714T>C" "2/671" "" "Substitution" "" "" "0000016637" "0" "55" "4" "159618711" "159618711" "subst" "" "00006" "ETFDH_000067" "g.159618711T>G" "3/671" "" "Substitution" "" "" "0000016638" "0" "55" "4" "159616778" "159616778" "subst" "" "00006" "ETFDH_000064" "g.159616778G>A" "3/671" "" "Substitution" "" "" "0000016639" "0" "55" "4" "159616776" "159616776" "subst" "" "00006" "ETFDH_000063" "g.159616776A>G" "1/671" "" "Substitution" "" "" "0000016640" "0" "55" "4" "159616704" "159616704" "subst" "" "00006" "ETFDH_000061" "g.159616704G>T" "1/671" "" "Substitution" "" "" "0000016641" "0" "55" "4" "159616656" "159616656" "subst" "" "00006" "ETFDH_000058" "g.159616656T>C" "1/671" "" "Substitution" "" "" "0000016642" "0" "55" "4" "159606378" "159606378" "subst" "" "00006" "ETFDH_000053" "g.159606378A>G" "3/671" "" "Substitution" "" "" "0000016643" "0" "55" "4" "159606349" "159606349" "subst" "" "00006" "ETFDH_000052" "g.159606349A>G" "2/671" "" "Substitution" "" "" "0000016644" "0" "77" "4" "159606344" "159606344" "subst" "" "00006" "ETFDH_000051" "g.159606344A>G" "1/671" "" "Substitution" "" "" "0000016645" "0" "55" "4" "159606293" "159606293" "subst" "" "00006" "ETFDH_000050" "g.159606293G>C" "2/671" "" "Substitution" "" "" "0000016646" "0" "77" "4" "159606288" "159606288" "subst" "" "00006" "ETFDH_000048" "g.159606288C>T" "2/671" "" "Substitution" "" "" "0000016647" "0" "55" "4" "159606276" "159606276" "subst" "" "00006" "ETFDH_000046" "g.159606276A>G" "1/671" "" "Substitution" "" "" "0000016648" "0" "55" "4" "159606268" "159606268" "subst" "" "00006" "ETFDH_000045" "g.159606268A>G" "2/671" "" "Substitution" "" "" "0000016649" "0" "55" "4" "159606263" "159606263" "subst" "" "00006" "ETFDH_000044" "g.159606263G>A" "2/671" "" "Substitution" "" "" "0000016650" "0" "55" "4" "159605811" "159605811" "subst" "" "00006" "ETFDH_000042" "g.159605811T>G" "1/671" "" "Substitution" "" "" "0000016651" "0" "55" "4" "159605808" "159605808" "subst" "" "00006" "ETFDH_000041" "g.159605808C>T" "1/671" "" "Substitution" "" "" "0000016652" "0" "90" "4" "159605757" "159605757" "subst" "" "00006" "ETFDH_000037" "g.159605757C>T" "1/671" "" "Substitution" "" "" "0000016653" "0" "77" "4" "159605757" "159605758" "ins" "" "00006" "ETFDH_000036" "g.159605757_159605758insA" "1/671" "" "Insertion" "" "" "0000016654" "0" "55" "4" "159605751" "159605751" "subst" "" "00006" "ETFDH_000035" "g.159605751T>G" "1/671" "" "Substitution" "" "" "0000016655" "0" "55" "4" "159605747" "159605747" "subst" "" "00006" "ETFDH_000034" "g.159605747C>T" "2/671" "" "Substitution" "" "" "0000016656" "0" "55" "4" "159603551" "159603551" "subst" "" "00006" "ETFDH_000028" "g.159603551T>A" "1/671" "" "Substitution" "" "" "0000016657" "0" "77" "4" "159603531" "159603531" "dup" "" "00006" "ETFDH_000027" "g.159603531dup" "1/671" "" "Duplication" "" "" "0000016658" "0" "55" "4" "159603512" "159603512" "subst" "" "00006" "ETFDH_000024" "g.159603512T>C" "2/671" "" "Substitution" "" "" "0000016659" "0" "55" "4" "159603512" "159603512" "subst" "" "00006" "ETFDH_000023" "g.159603512T>A" "1/671" "" "Substitution" "" "" "0000016660" "0" "77" "4" "159603436" "159603437" "del" "" "00006" "ETFDH_000020" "g.159603436_159603437delCA" "2/671" "" "Deletion" "" "" "0000016661" "0" "55" "4" "159603427" "159603427" "subst" "" "00006" "ETFDH_000019" "g.159603427C>T" "1/671" "" "Substitution" "" "" "0000016662" "0" "55" "4" "159603422" "159603422" "subst" "" "00006" "ETFDH_000018" "g.159603422C>T" "1/671" "" "Substitution" "" "" "0000016663" "0" "55" "4" "159603407" "159603407" "subst" "" "00006" "ETFDH_000015" "g.159603407C>G" "1/671" "" "Substitution" "" "" "0000016664" "0" "55" "4" "159603381" "159603383" "del" "" "00006" "ETFDH_000013" "g.159603381_159603383del" "1/671" "" "Deletion" "" "" "0000016665" "0" "55" "4" "159603356" "159603356" "subst" "" "00006" "ETFDH_000011" "g.159603356T>C" "1/671" "" "Substitution" "" "" "0000016666" "0" "77" "4" "159603346" "159603346" "subst" "" "00006" "ETFDH_000010" "g.159603346G>A" "1/671" "" "Substitution" "" "" "0000016667" "0" "77" "4" "159601761" "159601761" "subst" "" "00006" "ETFDH_000009" "g.159601761T>C" "1/671" "" "Substitution" "" "" "0000016668" "0" "77" "4" "159603346" "159603346" "subst" "" "00006" "ETFDH_000008" "g.159603346G>T" "1/671" "" "Substitution" "" "" "0000016669" "0" "55" "4" "159601676" "159601676" "subst" "" "00006" "ETFDH_000005" "g.159601676C>T" "4/671" "" "Substitution" "" "" "0000016670" "0" "55" "4" "159593642" "159593642" "subst" "" "00006" "ETFDH_000003" "g.159593642G>C" "2/671" "" "Substitution" "" "" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes ETFDH ## Count = 143 "{{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}}" "0000016420" "00000143" "99" "3" "0" "3" "0" "c.3G>C" "1" "Met1Ile" "r.0?" "0000016421" "00000143" "55" "65" "0" "65" "0" "c.65A>G" "2" "Lys22Arg" "r.0?" "0000016422" "00000143" "55" "152" "0" "152" "0" "c.152G>A" "2" "Arg51Gln" "r.0?" "0000016423" "00000143" "77" "172" "0" "172" "0" "c.172G>T" "2" "Glu58*" "r.0?" "0000016424" "00000143" "55" "191" "0" "191" "0" "c.191G>A" "3" "Arg64Lys" "r.0?" "0000016425" "00000143" "77" "229" "0" "229" "0" "c.229G>A" "3" "Gly77Ser" "r.0?" "0000016426" "00000143" "99" "242" "0" "242" "0" "c.242T>C" "3" "Leu81Pro" "r.0?" "0000016427" "00000143" "99" "250" "0" "250" "0" "c.250G>A" "3" "Ala84Thr" "r.0?" "0000016428" "00000143" "77" "295" "0" "295" "0" "c.295C>T" "3" "Arg99Cys" "r.0?" "0000016429" "00000143" "77" "303" "0" "303" "0" "c.303T>A" "3" "Cys101*" "r.0?" "0000016430" "00000143" "55" "349" "0" "349" "0" "c.349G>C" "3" "Ala117Pro" "r.0?" "0000016431" "00000143" "77" "353" "0" "353" "0" "c.353G>T" "3" "Cys118Phe" "r.0?" "0000016432" "00000143" "55" "380" "0" "380" "0" "c.380T>C" "3" "Leu127Pro" "r.0?" "0000016433" "00000143" "55" "383" "0" "383" "0" "c.383T>C" "3" "Phe128Ser" "r.0?" "0000016434" "00000143" "99" "389" "0" "389" "0" "c.389A>T" "3" "Leu127Pro" "r.0?" "0000016435" "00000143" "55" "393" "0" "393" "0" "c.393G>C" "3" "Trp131Cys" "r.0?" "0000016436" "00000143" "77" "405" "1" "405" "1" "c.405+1G>T" "3i" "-" "r.0?" "0000016438" "00000143" "55" "433" "0" "433" "0" "c.433G>C" "4" "Asp145His" "r.0?" "0000016439" "00000143" "77" "449" "0" "453" "0" "c.449_453del" "4" "Leu150*" "r.0?" "0000016440" "00000143" "77" "453" "0" "453" "0" "c.453delA" "4" "Glu152Argfs*15" "r.0?" "0000016441" "00000143" "55" "488" "-9" "488" "-9" "c.488-9T>C" "4i" "p.(=)" "r.(=)" "0000016442" "00000143" "55" "518" "0" "518" "0" "c.518T>G" "5" "Ile173Ser" "r.0?" "0000016443" "00000143" "99" "524" "0" "524" "0" "c.524G>A" "5" "Arg175His" "r.0?" "0000016444" "00000143" "55" "623" "0" "626" "0" "c.623_626del" "6" "Asp208Valfs*3" "r.0?" "0000016445" "00000143" "55" "643" "0" "643" "0" "c.643G>A" "6" "Ala215Thr" "r.0?" "0000016446" "00000143" "77" "684" "1" "684" "1" "c.684+1G>A" "6i" "-" "r.0?" "0000016447" "00000143" "77" "684" "1" "684" "1" "c.684+1G>T" "6i" "-" "r.0?" "0000016448" "00000143" "55" "715" "0" "715" "0" "c.715G>A" "7" "Ala239Thr" "r.0?" "0000016449" "00000143" "77" "736" "0" "736" "0" "c.736G>A" "7" "Glu246Lys" "r.0?" "0000016450" "00000143" "99" "770" "0" "770" "0" "c.770A>G" "7" "Tyr257Cys" "r.0?" "0000016451" "00000143" "55" "821" "0" "821" "0" "c.821G>A" "7" "Gly274Glu" "r.0?" "0000016452" "00000143" "77" "831" "2" "831" "2" "c.831+2T>C" "7i" "-" "r.0?" "0000016453" "00000143" "77" "872" "0" "872" "0" "c.872T>G" "8" "Val291Gly" "r.0?" "0000016454" "00000143" "55" "892" "0" "892" "0" "c.892C>T" "8" "Pro298Ser" "r.0?" "0000016455" "00000143" "55" "949" "0" "949" "0" "c.949C>A" "8" "Pro317Thr" "r.0?" "0000016457" "00000143" "55" "982" "0" "982" "0" "c.982G>C" "9" "Asp328His" "r.0?" "0000016458" "00000143" "55" "993" "0" "993" "0" "c.993T>G" "9" "Asn331Lys" "r.0?" "0000016459" "00000143" "55" "998" "0" "998" "0" "c.998A>G" "9" "Tyr333Cys" "r.0?" "0000016460" "00000143" "55" "1084" "0" "1084" "0" "c.1084G>A" "9" "Gly362Arg" "r.0?" "0000016461" "00000143" "55" "1157" "0" "1157" "0" "c.1157G>A" "10" "Gly386Asp" "r.0?" "0000016462" "00000143" "99" "1211" "0" "1211" "0" "c.1211T>C" "10" "Met404Thr" "r.0?" "0000016463" "00000143" "99" "1227" "0" "1227" "0" "c.1227A>C" "10" "Leu409Phe" "r.0?" "0000016464" "00000143" "77" "1255" "0" "1258" "0" "c.1255_1258del" "10" "Thr419Valfs*9" "r.0?" "0000016465" "00000143" "77" "1355" "0" "1355" "0" "c.1355delG" "11" "Arg452Lysfs*3" "r.0?" "0000016466" "00000143" "77" "1395" "0" "1395" "0" "c.1395T>G" "11" "Tyr465*" "r.0?" "0000016467" "00000143" "77" "1399" "0" "1399" "0" "c.1399G>C" "11" "Gly467Arg" "r.0?" "0000016468" "00000143" "55" "1400" "0" "1400" "0" "c.1400G>C" "11" "Gly467Ala" "r.0?" "0000016469" "00000143" "55" "1436" "0" "1436" "0" "c.1436G>C" "11" "Arg479Thr" "r.0?" "0000016470" "00000143" "55" "1448" "0" "1448" "0" "c.1448C>G" "11" "Gly467Ala" "r.0?" "0000016471" "00000143" "77" "1450" "0" "1450" "0" "c.1450T>C" "11" "Trp484Arg" "r.0?" "0000016472" "00000143" "77" "1454" "0" "1454" "0" "c.1454C>G" "11" "Thr485Ser" "r.0?" "0000016473" "00000143" "55" "1514" "0" "1514" "0" "c.1514T>C" "12" "Ile505Thr" "r.0?" "0000016474" "00000143" "55" "1531" "0" "1531" "0" "c.1531G>A" "12" "Asp511Asn" "r.0?" "0000016475" "00000143" "55" "1586" "0" "1586" "0" "c.1586A>G" "12" "His529Arg" "r.0?" "0000016476" "00000143" "77" "1675" "0" "1675" "0" "c.1675C>T" "12" "Arg559*" "r.0?" "0000016477" "00000143" "77" "1691" "-3" "1691" "-3" "c.1691-3C>G" "12i" "-" "r.0?" "0000016478" "00000143" "77" "1717" "0" "1717" "0" "c.1717C>T" "13" "Gln573*" "r.0?" "0000016479" "00000143" "55" "1744" "0" "1744" "0" "c.1744A>T" "13" "Asn582Tyr" "r.0?" "0000016480" "00000143" "55" "1763" "0" "1763" "0" "c.1763A>T" "13" "His588Leu" "r.0?" "0000016481" "00000143" "77" "1773" "0" "1774" "0" "c.1773_1774del" "13" "Cys592*" "r.0?" "0000016482" "00000143" "55" "1810" "0" "1810" "0" "c.1810G>T" "13" "Val604Leu" "r.0?" "0000016483" "00000143" "55" "1828" "0" "1828" "0" "c.1828G>A" "13" "Gly610Arg" "r.0?" "0000016590" "00000143" "99" "1" "0" "938" "0" "c.1_938del" "1i_5i" "p.?" "r.?" "0000016591" "00000143" "55" "-75" "0" "-75" "0" "c.-75A>G" "13" "p.(=)" "r.(=)" "0000016592" "00000143" "55" "1831" "0" "1831" "0" "c.1831G>A" "13" "p.(Gly611Arg)" "r.(?)" "0000016593" "00000143" "77" "1813" "0" "1813" "0" "c.1813delG" "13" "p.(Val605Tyrfs*34)" "r.(?)" "0000016594" "00000143" "55" "1752" "0" "1752" "0" "c.1752G>A" "13" "p.(=)" "r.(=)" "0000016595" "00000143" "55" "1694" "0" "1694" "0" "c.1694T>C" "13" "p.(Val565Ala)" "r.(?)" "0000016596" "00000143" "55" "1667" "0" "1667" "0" "c.1667C>G" "12" "p.(Pro556Arg)" "r.(?)" "0000016597" "00000143" "55" "1657" "0" "1657" "0" "c.1657T>C" "12" "p.(Tyr553His)" "r.(?)" "0000016598" "00000143" "55" "1601" "0" "1601" "0" "c.1601C>T" "12" "p.(Pro534Leu)" "r.(?)" "0000016599" "00000143" "77" "1583" "0" "1583" "0" "c.1583dup" "12" "p.(Asn528Lysfs*3)" "r.(?)" "0000016600" "00000143" "55" "1552" "0" "1552" "0" "c.1552C>G" "12" "p.(Leu518Val)" "r.(?)" "0000016601" "00000143" "55" "1534" "0" "1534" "0" "c.1534G>A" "12" "p.(Gly512Arg)" "r.(?)" "0000016602" "00000143" "55" "1528" "0" "1528" "0" "c.1528C>T" "12" "p.(Pro510Ser)" "r.(?)" "0000016603" "00000143" "55" "1522" "0" "1522" "0" "c.1522C>A" "12" "p.(Pro508Thr)" "r.(?)" "0000016604" "00000143" "55" "1484" "0" "1484" "0" "c.1484G>C" "12" "p.(Arg495Pro)" "r.(?)" "0000016605" "00000143" "77" "1468" "2" "1468" "2" "c.1468+2T>G" "11i" "p.?" "r.spl?" "0000016606" "00000143" "77" "1448" "0" "1448" "0" "c.1448C>T" "11" "p.(Pro483Leu)" "r.(?)" "0000016607" "00000143" "77" "1399" "0" "1399" "0" "c.1399G>A" "11" "p.(Gly467Arg)" "r.(?)" "0000016608" "00000143" "77" "1395" "0" "1395" "0" "c.1395dupT" "11" "p.(Gly466Trpfs*24)" "r.(?)" "0000016609" "00000143" "55" "1390" "0" "1390" "0" "c.1390G>A" "11" "p.(Val464Ile)" "r.(?)" "0000016610" "00000143" "55" "1378" "0" "1378" "0" "c.1378G>A" "11" "p.(Gly460Arg)" "r.(?)" "0000016611" "00000143" "77" "1372" "0" "1375" "0" "c.1372_1375del" "11" "p.(Cys458Thrfs*10)" "r.(?)" "0000016612" "00000143" "55" "1351" "0" "1351" "0" "c.1351G>A" "11" "p.(Val451Ile)" "r.(?)" "0000016613" "00000143" "55" "1313" "0" "1313" "0" "c.1313A>G" "11" "p.(Asn438Ser)" "r.(?)" "0000016614" "00000143" "77" "1300" "0" "1300" "0" "c.1300delG" "11" "p.(Glu434Asnfs*6)" "r.(?)" "0000016615" "00000143" "55" "1295" "0" "1295" "0" "c.1295T>A" "11" "p.(Val432Glu)" "r.(?)" "0000016616" "00000143" "77" "1285" "2" "1285" "2" "c.1285+2T>C" "10i" "p.?" "r.spl?" "0000016617" "00000143" "77" "1281" "0" "1282" "0" "c.1281_1282del" "10" "p.(Ile428Argfs*6)" "r.(?)" "0000016618" "00000143" "77" "1273" "0" "1276" "0" "c.1273_1276del" "10" "p.(Ser425Argfs*3)" "r.(?)" "0000016619" "00000143" "77" "1220" "0" "1220" "0" "c.1220dup" "10" "p.(Ile408Asnfs*9)" "r.(?)" "0000016620" "00000143" "55" "1205" "0" "1205" "0" "c.1205C>T" "10" "p.(Thr402Ile)" "r.(?)" "0000016621" "00000143" "77" "1193" "0" "1193" "0" "c.1193A>G" "10" "p.(Lys398Arg)" "r.(?)" "0000016622" "00000143" "55" "1174" "0" "1174" "0" "c.1174A>G" "10" "p.(Met392Val)" "r.(?)" "0000016623" "00000143" "55" "1123" "0" "1123" "0" "c.1123C>A" "10" "p.(Pro375Thr)" "r.(?)" "0000016624" "00000143" "55" "1107" "0" "1107" "0" "c.1107T>G" "9" "p.(=)" "r.(=)" "0000016625" "00000143" "55" "1099" "0" "1099" "0" "c.1099A>G" "9" "p.(Asn367Asp)" "r.(?)" "0000016626" "00000143" "55" "1081" "0" "1081" "0" "c.1081T>A" "9" "p.(Tyr361Asn)" "r.(?)" "0000016627" "00000143" "55" "1027" "0" "1027" "0" "c.1027T>C" "9" "p.(Trp343Arg)" "r.(?)" "0000016628" "00000143" "55" "1026" "0" "1026" "0" "c.1026G>T" "9" "p.(Arg342Ser)" "r.(?)" "0000016629" "00000143" "55" "1007" "0" "1007" "0" "c.1007C>T" "9" "p.(Pro336Leu)" "r.(?)" "0000016630" "00000143" "55" "992" "0" "992" "0" "c.992A>T" "9" "p.(Asn331Ile)" "r.(?)" "0000016631" "00000143" "55" "985" "0" "985" "0" "c.985T>C" "9" "p.(Tyr329His)" "r.(?)" "0000016632" "00000143" "77" "974" "0" "1285" "0" "c.974_1285del" "9" "p.?" "r.?" "0000016633" "00000143" "55" "970" "0" "970" "0" "c.970G>T" "8" "p.(Val324Leu)" "r.(?)" "0000016634" "00000143" "55" "953" "0" "953" "0" "c.953T>C" "8" "p.(Leu318Pro)" "r.(?)" "0000016635" "00000143" "99" "920" "0" "920" "0" "c.920C>G" "8" "p.(Ser307Cys)" "r.(?)" "0000016636" "00000143" "55" "835" "0" "835" "0" "c.835T>C" "8" "p.(Trp279Arg)" "r.(?)" "0000016637" "00000143" "55" "832" "0" "832" "0" "c.832T>G" "8" "p.(Leu278Val)" "r.(?)" "0000016638" "00000143" "55" "814" "0" "814" "0" "c.814G>A" "7" "p.(Gly272Arg)" "r.(?)" "0000016639" "00000143" "55" "812" "0" "812" "0" "c.812A>G" "7" "p.(Tyr271Cys)" "r.(?)" "0000016640" "00000143" "55" "740" "0" "740" "0" "c.740G>T" "7" "p.(Gly247Val)" "r.(?)" "0000016641" "00000143" "55" "692" "0" "692" "0" "c.692T>C" "7" "p.(Phe231Ser)" "r.(?)" "0000016642" "00000143" "55" "606" "7" "606" "7" "c.606+7A>G" "5i" "p.(=)" "r.(=)" "0000016643" "00000143" "55" "584" "0" "584" "0" "c.584A>G" "5" "p.(Tyr195Cys)" "r.(?)" "0000016644" "00000143" "77" "579" "0" "579" "0" "c.579A>G" "5" "p.(=)" "r.(=)" "0000016645" "00000143" "55" "528" "0" "528" "0" "c.528G>C" "5" "p.(Leu176Phe)" "r.(?)" "0000016646" "00000143" "77" "523" "0" "523" "0" "c.523C>T" "5" "p.(Arg175Cys)" "r.(?)" "0000016647" "00000143" "55" "511" "0" "511" "0" "c.511A>G" "5" "p.(Asn171Asp)" "r.(?)" "0000016648" "00000143" "55" "503" "0" "503" "0" "c.503A>G" "5" "p.(Asn168Ser)" "r.(?)" "0000016649" "00000143" "55" "498" "0" "498" "0" "c.498G>A" "5" "p.(Met166Ile)" "r.(?)" "0000016650" "00000143" "55" "473" "0" "473" "0" "c.473T>G" "4" "p.(Val158Gly)" "r.(?)" "0000016651" "00000143" "55" "470" "0" "470" "0" "c.470C>T" "4" "p.(Pro157Leu)" "r.(?)" "0000016652" "00000143" "90" "419" "0" "419" "0" "c.419C>T" "4" "p.(Thr140Ile)" "r.(?)" "0000016653" "00000143" "77" "419" "0" "420" "0" "c.419_420insA" "4" "p.(Pro141Serfs*28)" "r.(?)" "0000016654" "00000143" "55" "413" "0" "413" "0" "c.413T>G" "4" "p.(Leu138Arg)" "r.(?)" "0000016655" "00000143" "55" "409" "0" "409" "0" "c.409C>T" "4" "p.(Pro137Ser)" "r.(?)" "0000016656" "00000143" "55" "380" "0" "380" "0" "c.380T>A" "3" "p.(Leu127His)" "r.(?)" "0000016657" "00000143" "77" "360" "0" "360" "0" "c.360dup" "3" "p.(Pro121Serfs*5)" "r.(?)" "0000016658" "00000143" "55" "341" "0" "341" "0" "c.341T>C" "3" "p.(Leu114Pro)" "r.(?)" "0000016659" "00000143" "55" "341" "0" "341" "0" "c.341T>A" "3" "p.(Leu114His)" "r.(?)" "0000016660" "00000143" "77" "265" "0" "266" "0" "c.265_266delCA" "3" "p.(Gln89Valfs*6)" "r.(?)" "0000016661" "00000143" "55" "256" "0" "256" "0" "c.256C>T" "3" "p.(Arg86Cys)" "r.(?)" "0000016662" "00000143" "55" "251" "0" "251" "0" "c.251C>T" "3" "p.(Ala84Val)" "r.(?)" "0000016663" "00000143" "55" "236" "0" "236" "0" "c.236C>G" "3" "p.(Ala79Gly)" "r.(?)" "0000016664" "00000143" "55" "210" "0" "212" "0" "c.210_212del" "3" "p.(Val72del)" "r.(?)" "0000016665" "00000143" "55" "185" "0" "185" "0" "c.185T>C" "3" "p.(Met62Thr)" "r.(?)" "0000016666" "00000143" "77" "176" "-1" "176" "-1" "c.176-1G>A" "2i" "p.?" "r.spl?" "0000016667" "00000143" "77" "175" "2" "175" "2" "c.175+2T>C" "2i" "p.?" "r.spl?" "0000016668" "00000143" "77" "176" "-1" "176" "-1" "c.176-1G>T" "2i" "p.?" "r.spl?" "0000016669" "00000143" "55" "92" "0" "92" "0" "c.92C>T" "2" "p.(Thr31Ile)" "r.(?)" "0000016670" "00000143" "55" "34" "0" "34" "0" "c.34G>C" "1" "p.(Ala12Pro)" "r.(?)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0