### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FLAD1) # 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}}" "FLAD1" "flavin adenine dinucleotide synthetase 1" "1" "q22" "unknown" "NC_000001.10" "UD_144419773658" "" "" "" "1" "1" "24671" "80308" "610595" "1" "1" "1" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2016-05-09 11:42:48" "" "" "" "" "" ## Transcripts ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00003748" "FLAD1" "transcript variant 1" "001" "NM_025207.4" "" "NP_079483.3" "" "" "" "-401" "1838" "1764" "154983294" "154993111" "00001" "2016-05-09 01:43:51" "" "" "" "" "00003749" "FLAD1" "transcript variant 2" "003" "NM_201398.2" "" "NP_958800.1" "" "" "" "-248" "1547" "1473" "154983294" "154993111" "00001" "2016-05-09 01:43:51" "" "" "" "" "00003750" "FLAD1" "transcript variant 3" "002" "NM_001184891.1" "" "NP_001171820.1" "" "" "" "-248" "1662" "1341" "154983294" "154993111" "00001" "2016-05-09 01:43:51" "" "" "" "" "00003751" "FLAD1" "transcript variant 4" "004" "NM_001184892.1" "" "NP_001171821.1" "" "" "" "-893" "983" "885" "154983294" "154989012" "00001" "2016-05-09 01:43:51" "" "" "" "" "00003752" "FLAD1" "transcript variant X1" "007" "XM_005245502.2" "" "XP_005245559.1" "" "" "" "-209" "1401" "1290" "154983333" "154992702" "00001" "2016-05-09 01:43:51" "" "" "" "" "00003753" "FLAD1" "transcript variant X2" "005" "XM_005245503.2" "" "XP_005245560.1" "" "" "" "-503" "1037" "963" "154983324" "154993111" "00001" "2016-05-09 01:43:51" "" "" "" "" "00003754" "FLAD1" "transcript variant X3" "006" "XR_241098.3" "" "" "" "" "" "1" "1489" "1489" "154983333" "154992992" "00001" "2016-05-09 01:43:51" "" "" "" "" "00003755" "FLAD1" "transcript variant X4" "008" "XM_006711559.2" "" "XP_006711622.1" "" "" "" "-209" "911" "852" "154983333" "154989664" "00001" "2016-05-09 01:43:51" "" "" "" "" ## 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 = 9 "{{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}}" "0000015549" "0" "00" "1" "154956491" "154956491" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:56:37" "FLAD1_000004" "g.154956491del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015549" "" "0000015550" "0" "00" "1" "154960605" "154960608" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:55" "FLAD1_000003" "g.154960605_154960608del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015550" "" "0000015551" "0" "99" "1" "154960706" "154960706" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:59" "FLAD1_000009" "g.154960706del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015551" "" "0000015552" "0" "33" "1" "154960716" "154960716" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:17" "FLAD1_000005" "g.154960716T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015552" "" "0000015553" "0" "99" "1" "154960734" "154960745" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:22" "FLAD1_000001" "g.154960734_154960745delinsCA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015553" "" "0000015554" "0" "99" "1" "154960775" "154960776" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:27" "FLAD1_000006" "g.154960775_154960776insGC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015554" "" "0000015555" "0" "99" "1" "154961043" "154961043" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:32" "FLAD1_000007" "g.154961043del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015555" "" "0000015556" "0" "00" "1" "154962932" "154962934" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:37" "FLAD1_000008" "g.154962932_154962934del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015556" "" "0000015557" "0" "99" "1" "154965222" "154965222" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:42" "FLAD1_000002" "g.154965222C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015557" "" ## 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 = 36 "{{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}}" "0000015549" "00003748" "00" "321" "0" "321" "0" "c.321del" "" "p.(Arg109Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000015549" "00003749" "00" "30" "0" "30" "0" "c.30del" "" "p.(Arg12Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000015549" "00003750" "00" "30" "0" "30" "0" "c.30del" "" "p.(Arg12Alafs*3)" "r.(?)" "" "" "" "" "" "-" "0000015549" "00003751" "00" "-616" "0" "-616" "0" "c.-616del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015550" "00003748" "00" "397" "0" "400" "0" "c.397_400del" "" "p.(Phe134Cysfs*8)" "r.(?)" "" "" "" "" "" "-" "0000015550" "00003749" "00" "106" "0" "109" "0" "c.106_109del" "" "p.(Phe37Cysfs*8)" "r.(?)" "" "" "" "" "" "-" "0000015550" "00003750" "00" "106" "0" "109" "0" "c.106_109del" "" "p.(Phe37Cysfs*8)" "r.(?)" "" "" "" "" "" "-" "0000015550" "00003751" "00" "100" "0" "103" "0" "c.100_103del" "" "p.(Phe35Cysfs*8)" "r.(?)" "" "" "" "" "" "-" "0000015551" "00003748" "00" "498" "0" "498" "0" "c.498del" "" "p.(Ser167Profs*20)" "r.(?)" "" "" "" "" "" "-" "0000015551" "00003749" "00" "207" "0" "207" "0" "c.207del" "" "p.(Ser70Profs*20)" "r.(?)" "" "" "" "" "" "-" "0000015551" "00003750" "00" "207" "0" "207" "0" "c.207del" "" "p.(Ser70Profs*20)" "r.(?)" "" "" "" "" "" "-" "0000015551" "00003751" "00" "201" "0" "201" "0" "c.201del" "" "p.(Ser68Profs*20)" "r.(?)" "" "" "" "" "" "-" "0000015552" "00003748" "00" "508" "0" "508" "0" "c.508T>C" "" "p.(Phe170Leu)" "r.(?)" "" "" "" "" "" "-" "0000015552" "00003749" "00" "217" "0" "217" "0" "c.217T>C" "" "p.(Phe73Leu)" "r.(?)" "" "" "" "" "" "-" "0000015552" "00003750" "00" "217" "0" "217" "0" "c.217T>C" "" "p.(Phe73Leu)" "r.(?)" "" "" "" "" "" "-" "0000015552" "00003751" "00" "211" "0" "211" "0" "c.211T>C" "" "p.(Phe71Leu)" "r.(?)" "" "" "" "" "" "-" "0000015553" "00003748" "00" "526" "0" "537" "0" "c.526_537delinsCA" "" "p.(Ala176Glnfs*8)" "r.(?)" "" "" "" "" "" "-" "0000015553" "00003749" "00" "235" "0" "246" "0" "c.235_246delinsCA" "" "p.(Ala79Glnfs*8)" "r.(?)" "" "" "" "" "" "-" "0000015553" "00003750" "00" "235" "0" "246" "0" "c.235_246delinsCA" "" "p.(Ala79Glnfs*8)" "r.(?)" "" "" "" "" "" "-" "0000015553" "00003751" "00" "229" "0" "240" "0" "c.229_240delinsCA" "" "p.(Ala77Glnfs*8)" "r.(?)" "" "" "" "" "" "-" "0000015554" "00003748" "00" "567" "0" "568" "0" "c.567_568insGC" "" "p.(Val191Glnfs*10)" "r.(?)" "" "" "" "" "" "-" "0000015554" "00003749" "00" "276" "0" "277" "0" "c.276_277insGC" "" "p.(Val94Glnfs*10)" "r.(?)" "" "" "" "" "" "-" "0000015554" "00003750" "00" "276" "0" "277" "0" "c.276_277insGC" "" "p.(Val94Glnfs*10)" "r.(?)" "" "" "" "" "" "-" "0000015554" "00003751" "00" "270" "0" "271" "0" "c.270_271insGC" "" "p.(Val92Glnfs*10)" "r.(?)" "" "" "" "" "" "-" "0000015555" "00003748" "00" "835" "0" "835" "0" "c.835del" "" "p.(Phe279Serfs*45)" "r.(?)" "" "" "" "" "" "-" "0000015555" "00003749" "00" "544" "0" "544" "0" "c.544del" "" "p.(Phe182Serfs*45)" "r.(?)" "" "" "" "" "" "-" "0000015555" "00003750" "00" "544" "0" "544" "0" "c.544del" "" "p.(Phe182Serfs*45)" "r.(?)" "" "" "" "" "" "-" "0000015555" "00003751" "00" "538" "0" "538" "0" "c.538del" "" "p.(Phe180Serfs*45)" "r.(?)" "" "" "" "" "" "-" "0000015556" "00003748" "00" "1482" "0" "1484" "0" "c.1482_1484del" "" "p.(Ser495del)" "r.(?)" "" "" "" "" "" "-" "0000015556" "00003749" "00" "1191" "0" "1193" "0" "c.1191_1193del" "" "p.(Ser398del)" "r.(?)" "" "" "" "" "" "-" "0000015556" "00003750" "00" "1191" "0" "1193" "0" "c.1191_1193del" "" "p.(Ser398del)" "r.(?)" "" "" "" "" "" "-" "0000015556" "00003751" "00" "983" "1444" "983" "1446" "c.*1542_*1544del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015557" "00003748" "00" "1588" "0" "1588" "0" "c.1588C>T" "" "p.(Arg530Cys)" "r.(?)" "" "" "" "" "" "-" "0000015557" "00003749" "00" "1297" "0" "1297" "0" "c.1297C>T" "" "p.(Arg433Cys)" "r.(?)" "" "" "" "" "" "-" "0000015557" "00003750" "00" "1297" "0" "1297" "0" "c.1297C>T" "" "p.(Arg433Cys)" "r.(?)" "" "" "" "" "" "-" "0000015557" "00003751" "00" "983" "3734" "983" "3734" "c.*3832C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0