### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HADHB) # 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}}" "HADHB" "hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit" "2" "p23" "unknown" "NC_000002.11" "UD_132118538696" "" "" "" "1" "1" "4803" "3032" "143450" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; 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 21:25:34" "" "" "" "" "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 = 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}}" "{{iNote}}" "{{chrom}}" "00000789" "HADHB" "hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit" "001" "NM_000183.2" "" "NP_000174.1" "" "" "" "-251" "1937" "1425" "26467616" "26513333" "00001" "2013-11-12 21:41:02" "" "" "" "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}}" "00417" "609015" "TRIFUNCTIONAL PROTEIN DEFICIENCY" "609015" "" "" "" "00001" "2014-04-08 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HADHB" "00417" ## 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 = 64 "{{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}}" "0000000797" "0" "99" "2" "26486320" "26486320" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:53" "HADHB_000001" "g.26486320G>A" "" "{PMID:8651282:8651282}" "" "rs121913132" "subst" "0" "; clinVar; Ensembl;" "5.640" "" "" "" "" "MSCV_0000797" "" "0000000798" "0" "99" "2" "26502112" "26502112" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:53" "HADHB_000002" "g.26502112G>A" "" "{PMID:8651282:8651282}" "" "rs121913133" "subst" "0" "; clinVar; Ensembl;" "5.690" "" "" "" "" "MSCV_0000798" "" "0000000799" "0" "99" "2" "26502160" "26502160" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-08-29 22:29:51" "HADHB_000003" "g.26502160A>G" "" "{PMID:8651282:8651282};{PMID:8163672:8163672}" "" "rs121913131" "subst" "0" "; clinVar; Ensembl;" "5.620" "" "" "" "" "MSCV_0000799" "" "0000000800" "0" "99" "2" "26508381" "26508381" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:55" "HADHB_000004" "g.26508381G>A" "" "{PMID:19699128:19699128};{PMID:9259266:9259266}" "" "rs121913134" "subst" "0" "; clinVar; Ensembl;" "5.670" "" "" "" "" "MSCV_0000800" "" "0000000801" "0" "99" "2" "26508414" "26508414" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:43:55" "HADHB_000005" "g.26508414T>A" "" "" "" "NA" "subst" "0" ";" "5.670" "" "" "" "" "MSCV_0000801" "" "0000000802" "0" "99" "2" "26508414" "26508414" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-01-18 09:37:13" "HADHB_000006" "g.26508414T>G" "" "{PMID:19699128:19699128}" "" "rs267606859" "subst" "0" "; clinVar; Ensembl;" "5.670" "" "" "" "" "MSCV_0000802" "" "0000018976" "0" "00" "2" "26467632" "26467632" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:21" "HADHA_000029" "g.26467632del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018976" "" "0000018977" "0" "33" "2" "26467653" "26467653" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:25" "HADHA_000030" "g.26467653C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018977" "" "0000018978" "0" "55" "2" "26467665" "26467665" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:29" "HADHA_000031" "g.26467665G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018978" "" "0000018979" "0" "11" "2" "26467666" "26467666" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:30" "HADHB_000028" "g.26467666G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018979" "" "0000018980" "0" "33" "2" "26467682" "26467682" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:31" "HADHB_000029" "g.26467682G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018980" "" "0000018981" "0" "55" "2" "26467691" "26467691" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:32" "HADHB_000030" "g.26467691G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018981" "" "0000018982" "0" "55" "2" "26467694" "26467694" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:33" "HADHB_000031" "g.26467694T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018982" "" "0000018983" "0" "55" "2" "26467743" "26467743" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:34" "HADHB_000032" "g.26467743C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018983" "" "0000018984" "0" "55" "2" "26467869" "26467869" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:36" "HADHB_000033" "g.26467869G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018984" "" "0000018985" "0" "00" "2" "26477125" "26477126" "ins" "35" "0.913137" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:37" "HADHB_000034" "g.26477125_26477126insACT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018985" "" "0000018986" "0" "77" "2" "26477197" "26477197" "subst" "35" "0.00123229" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:38" "HADHB_000035" "g.26477197T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018986" "" "0000018987" "0" "55" "2" "26486273" "26486273" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:39" "HADHB_000036" "g.26486273G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018987" "" "0000018988" "0" "77" "2" "26486320" "26486320" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-07-04 07:29:43" "HADHB_000001" "g.26486320G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000797" "" "0000018989" "0" "77" "2" "26486348" "26486348" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:43" "HADHB_000037" "g.26486348G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018989" "" "0000018990" "0" "55" "2" "26492816" "26492816" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:55" "HADHB_000007" "g.26492816C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018990" "" "0000018991" "0" "77" "2" "26492857" "26492857" "subst" "35" "0.000461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:56" "HADHB_000008" "g.26492857A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018991" "" "0000018992" "0" "55" "2" "26496536" "26496536" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:57" "HADHB_000009" "g.26496536C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018992" "" "0000018993" "0" "99" "2" "26499942" "26499943" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:58" "HADHB_000010" "g.26499942_26499943insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018993" "" "0000018994" "0" "55" "2" "26501599" "26501599" "subst" "35" "0.000691988" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:00" "HADHB_000011" "g.26501599A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018994" "" "0000018995" "0" "55" "2" "26502084" "26502084" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:01" "HADHB_000012" "g.26502084C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018995" "" "0000018996" "0" "77" "2" "26502112" "26502112" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:02" "HADHB_000002" "g.26502112G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000798" "" "0000018997" "0" "99" "2" "26502160" "26502160" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:03" "HADHB_000003" "g.26502160A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000799" "" "0000018998" "0" "77" "2" "26502857" "26502857" "subst" "35" "0.00538213" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:04" "HADHB_000013" "g.26502857A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018998" "" "0000018999" "0" "11" "2" "26502875" "26502875" "subst" "35" "0.164001" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:05" "HADHB_000014" "g.26502875T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018999" "" "0000019000" "0" "77" "2" "26502880" "26502880" "subst" "35" "0.00668922" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:07" "HADHB_000015" "g.26502880A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019000" "" "0000019001" "0" "77" "2" "26502941" "26502941" "subst" "35" "0.00668922" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:08" "HADHB_000016" "g.26502941C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019001" "" "0000019002" "0" "55" "2" "26502969" "26502969" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:09" "HADHB_000017" "g.26502969A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019002" "" "0000019003" "0" "33" "2" "26505745" "26505745" "subst" "35" "0.0209134" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:10" "HADHB_000018" "g.26505745G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019003" "" "0000019004" "0" "11" "2" "26505858" "26505858" "subst" "35" "0.163002" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:11" "HADHB_000019" "g.26505858A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019004" "" "0000019005" "0" "11" "2" "26507076" "26507076" "subst" "35" "0.0516685" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:13" "HADHB_000020" "g.26507076A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019005" "" "0000019006" "0" "99" "2" "26507776" "26507776" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:14" "HADHB_000021" "g.26507776C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019006" "" "0000019007" "0" "99" "2" "26508381" "26508381" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:15" "HADHB_000004" "g.26508381G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000800" "" "0000019008" "0" "99" "2" "26508414" "26508414" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:17" "HADHB_000006" "g.26508414T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000802" "" "0000019009" "0" "77" "2" "26508421" "26508421" "subst" "35" "0.00130709" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:18" "HADHB_000022" "g.26508421G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019009" "" "0000019010" "0" "55" "2" "26512873" "26512873" "subst" "35" "0.000275028" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:20" "HADHB_000023" "g.26512873A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019010" "" "0000019011" "0" "11" "2" "26512957" "26512957" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:21" "HADHB_000024" "g.26512957G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019011" "" "0000019012" "0" "33" "2" "26513017" "26513017" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:23" "HADHB_000025" "g.26513017A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019012" "" "0000019013" "0" "55" "2" "26513062" "26513062" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:24" "HADHB_000026" "g.26513062T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019013" "" "0000019014" "0" "55" "2" "26513065" "26513065" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:43:25" "HADHB_000027" "g.26513065T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019014" "" "0000019015" "0" "55" "2" "26513089" "26513089" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-07-26 15:58:17" "HADHB_000038" "g.26513089G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019015" "" "0000019016" "0" "33" "2" "26513172" "26513172" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:46" "HADHB_000039" "g.26513172C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019016" "" "0000019017" "0" "55" "2" "26513201" "26513201" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:47" "HADHB_000040" "g.26513201A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019017" "" "0000019018" "0" "33" "2" "26513307" "26513307" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:49" "HADHB_000041" "g.26513307G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019018" "" "0000025678" "0" "00" "2" "26492866" "26492866" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:48:42" "HADHB_000042" "g.26492866G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025679" "0" "00" "2" "26492873" "26492873" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:48:48" "HADHB_000043" "g.26492873A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025680" "0" "00" "2" "26496530" "26496530" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:48:53" "HADHB_000044" "g.26496530A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025681" "0" "00" "2" "26499948" "26499948" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:48:59" "HADHB_000045" "g.26499948T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025682" "0" "00" "2" "26500009" "26500009" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:49:04" "HADHB_000046" "g.26500009C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025683" "0" "00" "2" "26501530" "26501530" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:49:09" "HADHB_000047" "g.26501530G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025684" "0" "00" "2" "26501604" "26501604" "subst" "35" "0.000384438" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:49:15" "HADHB_000048" "g.26501604G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025685" "0" "00" "2" "26501623" "26501623" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:49:20" "HADHB_000049" "g.26501623G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025686" "0" "00" "2" "26502057" "26502057" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:49:26" "HADHB_000050" "g.26502057C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025687" "0" "00" "2" "26502066" "26502066" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:49:31" "HADHB_000051" "g.26502066G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025688" "0" "00" "2" "26502152" "26502152" "subst" "35" "0.00668922" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:49:37" "HADHB_000052" "g.26502152C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025689" "0" "00" "2" "26502951" "26502951" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:49:42" "HADHB_000053" "g.26502951G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025690" "0" "00" "2" "26507071" "26507071" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:49:47" "HADHB_000054" "g.26507071C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025691" "0" "00" "2" "26512784" "26512784" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:49:53" "HADHB_000055" "g.26512784A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025692" "0" "00" "2" "26512813" "26512813" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:05:51" "HADHB_000056" "g.26512813C>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 = 64 "{{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}}" "0000000797" "00000789" "99" "182" "0" "182" "0" "c.182G>A" "4/14" "p.(Arg61His)" "r.(?)" "probably_damaging(0.988)" "" "missense_variant" "" "" "deleterious(0)" "0000000798" "00000789" "99" "740" "0" "740" "0" "c.740G>A" "9/16" "p.(Arg247His)" "r.(?)" "benign(0.107)" "" "missense_variant" "" "" "deleterious(0.05)" "0000000799" "00000789" "99" "788" "0" "788" "0" "c.788A>G" "9/16" "p.(Asp263Gly)" "r.(?)" "probably_damaging(0.984)" "" "missense_variant" "" "" "deleterious(0)" "0000000800" "00000789" "99" "1331" "0" "1331" "0" "c.1331G>A" "15/16" "p.(Arg444Lys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "tolerated(0.08)" "0000000801" "00000789" "00" "1364" "0" "1364" "0" "c.1364T>A" "15/16" "p.(Val455Glu)" "r.(?)" "probably_damaging(0.932)" "" "missense_variant" "" "" "deleterious(0)" "0000000802" "00000789" "99" "1364" "0" "1364" "0" "c.1364T>G" "15/16" "p.(Val455Gly)" "r.(?)" "possibly_damaging(0.868)" "" "missense_variant" "" "" "deleterious(0)" "0000018976" "00000789" "00" "-235" "0" "-235" "0" "c.-235del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018977" "00000789" "00" "-214" "0" "-214" "0" "c.-214C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018978" "00000789" "00" "-202" "0" "-202" "0" "c.-202G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018979" "00000789" "00" "-201" "0" "-201" "0" "c.-201G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018980" "00000789" "00" "-185" "0" "-185" "0" "c.-185G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018981" "00000789" "00" "-176" "0" "-176" "0" "c.-176G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018982" "00000789" "00" "-173" "0" "-173" "0" "c.-173T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018983" "00000789" "00" "-124" "0" "-124" "0" "c.-124C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018984" "00000789" "00" "-9" "11" "-9" "11" "c.-9+11G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018985" "00000789" "00" "3" "0" "4" "0" "c.3_4insACT" "" "p.(Thr2dup)" "r.(?)" "" "" "" "" "" "-" "0000018986" "00000789" "00" "64" "11" "64" "11" "c.64+11T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018987" "00000789" "00" "135" "0" "135" "0" "c.135G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018988" "00000789" "00" "182" "0" "182" "0" "c.182G>A" "" "p.(Arg61His)" "r.(?)" "" "" "" "" "" "-" "0000018989" "00000789" "00" "209" "1" "209" "1" "c.209+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018990" "00000789" "00" "210" "-5" "210" "-5" "c.210-5C>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018991" "00000789" "00" "246" "0" "246" "0" "c.246A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018992" "00000789" "00" "272" "0" "272" "0" "c.272C>T" "" "p.(Thr91Ile)" "r.(?)" "" "" "" "" "" "-" "0000018993" "00000789" "00" "356" "0" "357" "0" "c.356_357insT" "" "p.(Ala120Cysfs*8)" "r.(?)" "" "" "" "" "" "-" "0000018994" "00000789" "00" "560" "0" "560" "0" "c.560A>G" "" "p.(Asn187Ser)" "r.(?)" "" "" "" "" "" "-" "0000018995" "00000789" "00" "712" "0" "712" "0" "c.712C>T" "" "p.(Arg238Trp)" "r.(?)" "" "" "" "" "" "-" "0000018996" "00000789" "00" "740" "0" "740" "0" "c.740G>A" "" "p.(Arg247His)" "r.(?)" "" "" "" "" "" "-" "0000018997" "00000789" "00" "788" "0" "788" "0" "c.788A>G" "" "p.(Asp263Gly)" "r.(?)" "" "" "" "" "" "-" "0000018998" "00000789" "00" "812" "-5" "812" "-5" "c.812-5A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000018999" "00000789" "00" "825" "0" "825" "0" "c.825T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019000" "00000789" "00" "830" "0" "830" "0" "c.830A>G" "" "p.(Lys277Arg)" "r.(?)" "" "" "" "" "" "-" "0000019001" "00000789" "00" "891" "0" "891" "0" "c.891C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019002" "00000789" "00" "919" "0" "919" "0" "c.919A>G" "" "p.(Asn307Asp)" "r.(?)" "" "" "" "" "" "-" "0000019003" "00000789" "00" "966" "0" "966" "0" "c.966G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019004" "00000789" "00" "1014" "-14" "1014" "-14" "c.1014-14A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019005" "00000789" "00" "1149" "4" "1149" "4" "c.1149+4A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019006" "00000789" "00" "1175" "0" "1175" "0" "c.1175C>T" "" "p.(Ala392Val)" "r.(?)" "" "" "" "" "" "-" "0000019007" "00000789" "00" "1331" "0" "1331" "0" "c.1331G>A" "" "p.(Arg444Lys)" "r.(?)" "" "" "" "" "" "-" "0000019008" "00000789" "00" "1364" "0" "1364" "0" "c.1364T>G" "" "p.(Val455Gly)" "r.(?)" "" "" "" "" "" "-" "0000019009" "00000789" "00" "1371" "0" "1371" "0" "c.1371G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019010" "00000789" "00" "1477" "0" "1477" "0" "c.*52A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019011" "00000789" "00" "1561" "0" "1561" "0" "c.*136G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019012" "00000789" "00" "1621" "0" "1621" "0" "c.*196A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019013" "00000789" "00" "1666" "0" "1666" "0" "c.*241T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019014" "00000789" "00" "1669" "0" "1669" "0" "c.*244T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019015" "00000789" "00" "1693" "0" "1693" "0" "c.*268G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019016" "00000789" "00" "1776" "0" "1776" "0" "c.*351C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019017" "00000789" "00" "1805" "0" "1805" "0" "c.*380A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019018" "00000789" "00" "1911" "0" "1911" "0" "c.*486G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025678" "00000789" "00" "254" "1" "254" "1" "c.254+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025679" "00000789" "00" "254" "8" "254" "8" "c.254+8A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025680" "00000789" "00" "266" "0" "266" "0" "c.266A>G" "" "p.(His89Arg)" "r.(?)" "" "" "" "" "" "-" "0000025681" "00000789" "00" "362" "0" "362" "0" "c.362T>C" "" "p.(Leu121Pro)" "r.(?)" "" "" "" "" "" "-" "0000025682" "00000789" "00" "423" "0" "423" "0" "c.423C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025683" "00000789" "00" "491" "0" "491" "0" "c.491G>A" "" "p.(Gly164Asp)" "r.(?)" "" "" "" "" "" "-" "0000025684" "00000789" "00" "565" "0" "565" "0" "c.565G>A" "" "p.(Ala189Thr)" "r.(?)" "" "" "" "" "" "-" "0000025685" "00000789" "00" "584" "0" "584" "0" "c.584G>A" "" "p.(Arg195Gln)" "r.(?)" "" "" "" "" "" "-" "0000025686" "00000789" "00" "685" "0" "685" "0" "c.685C>T" "" "p.(Arg229*)" "r.(?)" "" "" "" "" "" "-" "0000025687" "00000789" "00" "694" "0" "694" "0" "c.694G>A" "" "p.(Ala232Thr)" "r.(?)" "" "" "" "" "" "-" "0000025688" "00000789" "00" "780" "0" "780" "0" "c.780C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025689" "00000789" "00" "901" "0" "901" "0" "c.901G>C" "" "p.(Gly301Arg)" "r.(?)" "" "" "" "" "" "-" "0000025690" "00000789" "00" "1148" "0" "1148" "0" "c.1148C>T" "" "p.(Ser383Leu)" "r.(?)" "" "" "" "" "" "-" "0000025691" "00000789" "00" "1390" "-2" "1390" "-2" "c.1390-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025692" "00000789" "00" "1417" "0" "1417" "0" "c.1417C>A" "" "p.(Pro473Thr)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0