### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACAD9) # 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}}" "ACAD9" "acyl-CoA dehydrogenase family, member 9" "3" "q21.3" "unknown" "NC_000003.11" "UD_132085245407" "" "" "" "1" "1" "21497" "28976" "611103" "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 11:35:36" "" "" "" "" "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 = 2 "{{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}}" "00000014" "ACAD9" "transcript variant 1" "002" "NM_014049.4" "" "NP_054768.2" "" "" "" "-202" "2373" "1866" "128598333" "128631957" "00001" "2013-11-07 12:04:49" "" "" "" "3" "00000015" "ACAD9" "transcript variant 2" "001" "NR_033426.1" "" "" "" "" "" "1" "2751" "2751" "128598333" "128631957" "00001" "2013-11-07 12:04:49" "" "" "" "3" ## 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}}" "00419" "611126" "ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF" "611126" "" "" "" "00001" "2014-04-08 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ACAD9" "00419" ## 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 = 69 "{{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}}" "0000000949" "0" "77" "3" "128598490" "128598491" "ins" "35" "0.0448718" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 22:29:11" "ACAD9_000006" "g.128598490_128598491insTAAG" "" "{PMID:17564966:17564966}" "" "rs387906242" "ins" "0" "; clinVar;" "" "" "" "" "" "MSCV_0000949" "" "0000000950" "0" "55" "3" "128598494" "128598495" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 21:39:27" "ACAD9_000007" "g.128598494_128598495insTAAG" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000950" "" "0000000951" "0" "99" "3" "128598664" "128598664" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 23:48:32" "ACAD9_000008" "g.128598664T>A" "" "{PMID:21057504:21057504}" "" "rs387907041" "subst" "0" "; clinVar;" "5.610" "" "" "" "" "MSCV_0000951" "" "0000000952" "0" "99" "3" "128618293" "128618293" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 03:27:34" "ACAD9_000005" "g.128618293G>A" "" "{PMID:21057504:21057504}" "" "rs387907042" "subst" "0" "; clinVar;" "5.320" "" "" "" "" "MSCV_0000952" "" "0000000953" "0" "99" "3" "128622922" "128622922" "subst" "35" "0.0152237" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 18:58:35" "ACAD9_000001" "g.128622922G>A" "" "{PMID:21057504:21057504}" "" "rs115532916" "subst" "0" "; clinVar;" "5.540" "" "" "" "" "MSCV_0000953" "" "0000000954" "0" "99" "3" "128622922" "128622922" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-10-23 01:44:37" "ACAD9_000002" "g.128622922G>C" "" "{PMID:21057504:21057504}" "" "rs115532916" "subst" "0" ";" "5.540" "" "" "" "" "MSCV_0000954" "" "0000000955" "0" "99" "3" "128625063" "128625063" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-12 12:05:42" "ACAD9_000003" "g.128625063C>T" "" "{PMID:21057504:21057504}" "" "rs368949613" "subst" "0" "; clinVar;" "4.770" "" "" "" "" "MSCV_0000955" "" "0000000956" "0" "99" "3" "128628894" "128628894" "subst" "51" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 03:27:34" "ACAD9_000004" "g.128628894C>T" "" "{PMID:21057504:21057504};{PMID:22499348:22499348}" "" "rs377022708" "subst" "0" "; clinVar;" "1.830" "" "" "" "" "MSCV_0000956" "" "0000020443" "0" "55" "3" "128598367" "128598367" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 12:41:59" "ACAD9_000059" "g.128598367T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020443" "" "0000020444" "0" "55" "3" "128598444" "128598444" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 11:58:50" "ACAD9_000060" "g.128598444G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020444" "" "0000020445" "0" "00" "3" "128598469" "128598470" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:38:28" "ACAD9_000058" "g.128598469_128598470insGT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020445" "" "0000020446" "0" "00" "3" "128598470" "128598471" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:58:32" "ACAD9_000046" "g.128598470_128598471del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020446" "" "0000020447" "0" "00" "3" "128598490" "128598491" "ins" "35" "0.0448718" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 22:29:17" "ACAD9_000006" "g.128598490_128598491insTAAG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000949" "" "0000020448" "0" "00" "3" "128598535" "128598535" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 22:28:37" "ACAD9_000047" "g.128598535A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020448" "" "0000020449" "0" "00" "3" "128598536" "128598536" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 23:48:08" "ACAD9_000048" "g.128598536T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020449" "" "0000020450" "0" "55" "3" "128598575" "128598575" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-10 04:21:28" "ACAD9_000049" "g.128598575C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020450" "" "0000020451" "0" "55" "3" "128598578" "128598578" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 11:58:41" "ACAD9_000050" "g.128598578G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020451" "" "0000020452" "0" "99" "3" "128598664" "128598664" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 22:28:47" "ACAD9_000008" "g.128598664T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000951" "" "0000020453" "0" "00" "3" "128603494" "128603494" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:59:38" "ACAD9_000051" "g.128603494A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020453" "" "0000020454" "0" "55" "3" "128603497" "128603497" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:58:38" "ACAD9_000052" "g.128603497A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020454" "" "0000020455" "0" "55" "3" "128603540" "128603540" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:39:23" "ACAD9_000053" "g.128603540T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020455" "" "0000020456" "0" "00" "3" "128612514" "128612514" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-10 03:25:37" "ACAD9_000054" "g.128612514del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020456" "" "0000020457" "0" "00" "3" "128614164" "128614164" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:38:37" "ACAD9_000055" "g.128614164del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020457" "" "0000020458" "0" "11" "3" "128614185" "128614185" "subst" "35" "0.450254" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:59:11" "ACAD9_000056" "g.128614185A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020458" "" "0000020459" "0" "55" "3" "128614248" "128614248" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:39:30" "ACAD9_000057" "g.128614248A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020459" "" "0000020460" "0" "99" "3" "128615334" "128615334" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:58:51" "ACAD9_000042" "g.128615334C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020460" "" "0000020461" "0" "55" "3" "128616475" "128616475" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 11:58:21" "ACAD9_000043" "g.128616475T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020461" "" "0000020462" "0" "33" "3" "128618283" "128618283" "subst" "35" "0.0223743" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:39:49" "ACAD9_000044" "g.128618283T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020462" "" "0000020463" "0" "00" "3" "128618292" "128618292" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 22:28:24" "ACAD9_000045" "g.128618292C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020463" "" "0000020464" "0" "99" "3" "128618293" "128618293" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 12:05:48" "ACAD9_000005" "g.128618293G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000952" "" "0000020465" "0" "55" "3" "128621441" "128621441" "subst" "51" "0.00153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:27:34" "ACAD9_000032" "g.128621441G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020465" "" "0000020466" "0" "77" "3" "128622902" "128622902" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-07-14 08:55:48" "ACAD9_000033" "g.128622902C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020466" "" "0000020467" "0" "33" "3" "128622922" "128622922" "subst" "35" "0.0152237" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 12:42:15" "ACAD9_000001" "g.128622922G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000953" "" "0000020468" "0" "33" "3" "128622922" "128622922" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:58:45" "ACAD9_000002" "g.128622922G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000954" "" "0000020469" "0" "00" "3" "128622961" "128622961" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 12:05:35" "ACAD9_000034" "g.128622961T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020469" "" "0000020470" "0" "00" "3" "128623228" "128623228" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 12:43:27" "ACAD9_000035" "g.128623228G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020470" "" "0000020471" "0" "55" "3" "128623261" "128623261" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:27:34" "ACAD9_000036" "g.128623261C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020471" "" "0000020472" "0" "55" "3" "128623268" "128623268" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:27:34" "ACAD9_000037" "g.128623268G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020472" "" "0000020473" "0" "55" "3" "128625004" "128625004" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 22:28:41" "ACAD9_000038" "g.128625004C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020473" "" "0000020474" "0" "00" "3" "128625051" "128625051" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:59:14" "ACAD9_000009" "g.128625051G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020474" "" "0000020475" "0" "99" "3" "128625063" "128625063" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 22:29:14" "ACAD9_000003" "g.128625063C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000955" "" "0000020476" "0" "55" "3" "128625072" "128625072" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:28:24" "ACAD9_000010" "g.128625072C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020476" "" "0000020477" "0" "11" "3" "128627021" "128627021" "subst" "35" "0.434107" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:28:33" "ACAD9_000011" "g.128627021A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020477" "" "0000020478" "0" "00" "3" "128627047" "128627047" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-12 23:34:27" "ACAD9_000012" "g.128627047G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020478" "" "0000020479" "0" "55" "3" "128627080" "128627080" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:27:34" "ACAD9_000013" "g.128627080C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020479" "" "0000020480" "0" "55" "3" "128627855" "128627855" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:59:04" "ACAD9_000014" "g.128627855C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020480" "" "0000020481" "0" "55" "3" "128627872" "128627872" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:28:27" "ACAD9_000015" "g.128627872G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020481" "" "0000020482" "0" "33" "3" "128627887" "128627887" "subst" "35" "0.0114563" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 11:58:47" "ACAD9_000016" "g.128627887G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020482" "" "0000020483" "0" "55" "3" "128627931" "128627931" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:58:48" "ACAD9_000017" "g.128627931C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020483" "" "0000020484" "0" "11" "3" "128627933" "128627933" "subst" "35" "0.23443" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:39:44" "ACAD9_000018" "g.128627933C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020484" "" "0000020485" "0" "55" "3" "128628197" "128628197" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:39:03" "ACAD9_000019" "g.128628197A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020485" "" "0000020486" "0" "00" "3" "128628253" "128628253" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:39:10" "ACAD9_000020" "g.128628253C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020486" "" "0000020487" "0" "00" "3" "128628858" "128628869" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:28:30" "ACAD9_000021" "g.128628858_128628869del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020487" "" "0000020488" "0" "77" "3" "128628894" "128628894" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 21:38:41" "ACAD9_000004" "g.128628894C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000956" "" "0000020489" "0" "00" "3" "128628895" "128628895" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 03:27:34" "ACAD9_000022" "g.128628895G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020489" "" "0000020490" "0" "55" "3" "128628950" "128628950" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 23:37:45" "ACAD9_000023" "g.128628950C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020490" "" "0000020491" "0" "77" "3" "128628975" "128628975" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 12:42:11" "ACAD9_000024" "g.128628975C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020491" "" "0000020492" "0" "99" "3" "128628987" "128628987" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 23:48:39" "ACAD9_000025" "g.128628987C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020492" "" "0000020493" "0" "55" "3" "128629669" "128629669" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 12:42:54" "ACAD9_000026" "g.128629669T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020493" "" "0000020494" "0" "00" "3" "128631430" "128631430" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 22:28:57" "ACAD9_000027" "g.128631430C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020494" "" "0000020495" "0" "55" "3" "128631476" "128631476" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 22:29:36" "ACAD9_000028" "g.128631476C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020495" "" "0000020496" "0" "11" "3" "128631481" "128631481" "subst" "35" "0.100261" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 11:58:32" "ACAD9_000029" "g.128631481G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020496" "" "0000020497" "0" "33" "3" "128631518" "128631518" "subst" "35" "0.017091" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 23:48:05" "ACAD9_000030" "g.128631518C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020497" "" "0000020498" "0" "55" "3" "128631542" "128631542" "subst" "35" "0.000174398" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:59:35" "ACAD9_000031" "g.128631542A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020498" "" "0000020499" "0" "00" "3" "128631673" "128631674" "del" "35" "0.0439752" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 12:06:00" "ACAD9_000039" "g.128631673_128631674del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020499" "" "0000020500" "0" "33" "3" "128631781" "128631781" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-12 12:03:53" "ACAD9_000040" "g.128631781T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020500" "" "0000020501" "0" "55" "3" "128631954" "128631954" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 22:28:34" "ACAD9_000041" "g.128631954G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020501" "" "0000026106" "0" "00" "3" "128614261" "128614261" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 03:41:39" "ACAD9_000061" "g.128614261T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026107" "0" "00" "3" "128627862" "128627862" "subst" "35" "0.00030755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 03:41:47" "ACAD9_000062" "g.128627862C>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 = 138 "{{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}}" "0000000949" "00000014" "77" "-45" "0" "-44" "0" "c.-45_-44insTAAG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000949" "00000015" "77" "158" "0" "159" "0" "n.158_159insTAAG" "1/18" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000950" "00000014" "55" "-41" "0" "-40" "0" "c.-41_-40insTAAG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000950" "00000015" "55" "162" "0" "163" "0" "n.162_163insTAAG" "" "" "" "" "" "" "" "" "-" "0000000951" "00000014" "99" "130" "0" "130" "0" "c.130T>A" "1/7" "p.(Phe44Ile)" "r.(?)" "probably_damaging(0.91)" "" "missense_variant,NMD_transcript_variant" "" "" "tolerated(0.08)" "0000000951" "00000015" "99" "332" "0" "332" "0" "n.332T>A" "1/18" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000952" "00000014" "99" "797" "0" "797" "0" "c.797G>A" "7/18" "p.(Arg266Gln)" "r.(?)" "probably_damaging(0.942)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000952" "00000015" "99" "1175" "0" "1175" "0" "n.1175G>A" "7/18" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000953" "00000014" "99" "976" "0" "976" "0" "c.976G>A" "10/18" "p.(Ala326Thr)" "r.(?)" "probably_damaging(0.968)" "" "missense_variant" "" "" "deleterious(0)" "0000000953" "00000015" "99" "1354" "0" "1354" "0" "n.1354G>A" "10/18" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000954" "00000014" "00" "976" "0" "976" "0" "c.976G>C" "10/18" "p.(Ala326Pro)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000000954" "00000015" "00" "1354" "0" "1354" "0" "n.1354G>C" "10/18" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000955" "00000014" "99" "1249" "0" "1249" "0" "c.1249C>T" "12/18" "p.(Arg417Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000955" "00000015" "99" "1627" "0" "1627" "0" "n.1627C>T" "12/18" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000956" "00000014" "99" "1594" "0" "1594" "0" "c.1594C>T" "16/18" "p.(Arg532Trp)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000000956" "00000015" "99" "1972" "0" "1972" "0" "n.1972C>T" "16/18" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000020443" "00000014" "00" "-168" "0" "-168" "0" "c.-168T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020443" "00000015" "00" "35" "0" "35" "0" "n.35T>C" "" "" "" "" "" "" "" "" "-" "0000020444" "00000014" "00" "-91" "0" "-91" "0" "c.-91G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020444" "00000015" "00" "112" "0" "112" "0" "n.112G>T" "" "" "" "" "" "" "" "" "-" "0000020445" "00000014" "00" "-66" "0" "-65" "0" "c.-66_-65insGT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020445" "00000015" "00" "137" "0" "138" "0" "n.137_138insGT" "" "" "" "" "" "" "" "" "-" "0000020446" "00000014" "00" "-65" "0" "-64" "0" "c.-65_-64del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020446" "00000015" "00" "138" "0" "139" "0" "n.138_139del" "" "" "" "" "" "" "" "" "-" "0000020447" "00000014" "00" "-45" "0" "-44" "0" "c.-45_-44insTAAG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020447" "00000015" "00" "158" "0" "159" "0" "n.158_159insTAAG" "" "" "" "" "" "" "" "" "-" "0000020448" "00000014" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000020448" "00000015" "00" "203" "0" "203" "0" "n.203A>G" "" "" "" "" "" "" "" "" "-" "0000020449" "00000014" "00" "2" "0" "2" "0" "c.2T>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000020449" "00000015" "00" "204" "0" "204" "0" "n.204T>G" "" "" "" "" "" "" "" "" "-" "0000020450" "00000014" "00" "41" "0" "41" "0" "c.41C>T" "" "p.(Ala14Val)" "r.(?)" "" "" "" "" "" "-" "0000020450" "00000015" "00" "243" "0" "243" "0" "n.243C>T" "" "" "" "" "" "" "" "" "-" "0000020451" "00000014" "00" "44" "0" "44" "0" "c.44G>C" "" "p.(Arg15Pro)" "r.(?)" "" "" "" "" "" "-" "0000020451" "00000015" "00" "246" "0" "246" "0" "n.246G>C" "" "" "" "" "" "" "" "" "-" "0000020452" "00000014" "00" "130" "0" "130" "0" "c.130T>A" "" "p.(Phe44Ile)" "r.(?)" "" "" "" "" "" "-" "0000020452" "00000015" "00" "332" "0" "332" "0" "n.332T>A" "" "" "" "" "" "" "" "" "-" "0000020453" "00000014" "00" "151" "-2" "151" "-2" "c.151-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020453" "00000015" "00" "529" "-2" "529" "-2" "n.529-2A>G" "" "" "" "" "" "" "" "" "-" "0000020454" "00000014" "00" "152" "0" "152" "0" "c.152A>T" "" "p.(Lys51Ile)" "r.(?)" "" "" "" "" "" "-" "0000020454" "00000015" "00" "530" "0" "530" "0" "n.530A>T" "" "" "" "" "" "" "" "" "-" "0000020455" "00000014" "00" "195" "0" "195" "0" "c.195T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020455" "00000015" "00" "573" "0" "573" "0" "n.573T>C" "" "" "" "" "" "" "" "" "-" "0000020456" "00000014" "00" "346" "15" "346" "15" "c.346+15del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020456" "00000015" "00" "724" "15" "724" "15" "n.724+15del" "" "" "" "" "" "" "" "" "-" "0000020457" "00000014" "00" "358" "0" "358" "0" "c.358del" "" "p.(Phe120Serfs*9)" "r.(?)" "" "" "" "" "" "-" "0000020457" "00000015" "00" "736" "0" "736" "0" "n.736del" "" "" "" "" "" "" "" "" "-" "0000020458" "00000014" "00" "379" "0" "379" "0" "c.379A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020458" "00000015" "00" "757" "0" "757" "0" "n.757A>C" "" "" "" "" "" "" "" "" "-" "0000020459" "00000014" "00" "442" "0" "442" "0" "c.442A>G" "" "p.(Ile148Val)" "r.(?)" "" "" "" "" "" "-" "0000020459" "00000015" "00" "820" "0" "820" "0" "n.820A>G" "" "" "" "" "" "" "" "" "-" "0000020460" "00000014" "00" "509" "0" "509" "0" "c.509C>T" "" "p.(Ala170Val)" "r.(?)" "" "" "" "" "" "-" "0000020460" "00000015" "00" "887" "0" "887" "0" "n.887C>T" "" "" "" "" "" "" "" "" "-" "0000020461" "00000014" "00" "555" "0" "555" "0" "c.555T>G" "" "p.(Ser185Arg)" "r.(?)" "" "" "" "" "" "-" "0000020461" "00000015" "00" "933" "0" "933" "0" "n.933T>G" "" "" "" "" "" "" "" "" "-" "0000020462" "00000014" "00" "787" "0" "787" "0" "c.787T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020462" "00000015" "00" "1165" "0" "1165" "0" "n.1165T>C" "" "" "" "" "" "" "" "" "-" "0000020463" "00000014" "00" "796" "0" "796" "0" "c.796C>T" "" "p.(Arg266Trp)" "r.(?)" "" "" "" "" "" "-" "0000020463" "00000015" "00" "1174" "0" "1174" "0" "n.1174C>T" "" "" "" "" "" "" "" "" "-" "0000020464" "00000014" "00" "797" "0" "797" "0" "c.797G>A" "" "p.(Arg266Gln)" "r.(?)" "" "" "" "" "" "-" "0000020464" "00000015" "00" "1175" "0" "1175" "0" "n.1175G>A" "" "" "" "" "" "" "" "" "-" "0000020465" "00000014" "00" "928" "0" "928" "0" "c.928G>A" "" "p.(Val310Ile)" "r.(?)" "" "" "" "" "" "-" "0000020465" "00000015" "00" "1306" "0" "1306" "0" "n.1306G>A" "" "" "" "" "" "" "" "" "-" "0000020466" "00000014" "00" "959" "-3" "959" "-3" "c.959-3C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020466" "00000015" "00" "1337" "-3" "1337" "-3" "n.1337-3C>G" "" "" "" "" "" "" "" "" "-" "0000020467" "00000014" "00" "976" "0" "976" "0" "c.976G>A" "" "p.(Ala326Thr)" "r.(?)" "" "" "" "" "" "-" "0000020467" "00000015" "00" "1354" "0" "1354" "0" "n.1354G>A" "" "" "" "" "" "" "" "" "-" "0000020468" "00000014" "00" "976" "0" "976" "0" "c.976G>C" "" "p.(Ala326Pro)" "r.(?)" "" "" "" "" "" "-" "0000020468" "00000015" "00" "1354" "0" "1354" "0" "n.1354G>C" "" "" "" "" "" "" "" "" "-" "0000020469" "00000014" "00" "1015" "0" "1015" "0" "c.1015T>G" "" "p.(Phe339Val)" "r.(?)" "" "" "" "" "" "-" "0000020469" "00000015" "00" "1393" "0" "1393" "0" "n.1393T>G" "" "" "" "" "" "" "" "" "-" "0000020470" "00000014" "00" "1030" "-1" "1030" "-1" "c.1030-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020470" "00000015" "00" "1408" "-1" "1408" "-1" "n.1408-1G>T" "" "" "" "" "" "" "" "" "-" "0000020471" "00000014" "00" "1062" "0" "1062" "0" "c.1062C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020471" "00000015" "00" "1440" "0" "1440" "0" "n.1440C>T" "" "" "" "" "" "" "" "" "-" "0000020472" "00000014" "00" "1069" "0" "1069" "0" "c.1069G>A" "" "p.(Glu357Lys)" "r.(?)" "" "" "" "" "" "-" "0000020472" "00000015" "00" "1447" "0" "1447" "0" "n.1447G>A" "" "" "" "" "" "" "" "" "-" "0000020473" "00000014" "00" "1190" "0" "1190" "0" "c.1190C>T" "" "p.(Ala397Val)" "r.(?)" "" "" "" "" "" "-" "0000020473" "00000015" "00" "1568" "0" "1568" "0" "n.1568C>T" "" "" "" "" "" "" "" "" "-" "0000020474" "00000014" "00" "1237" "0" "1237" "0" "c.1237G>A" "" "p.(Glu413Lys)" "r.(?)" "" "" "" "" "" "-" "0000020474" "00000015" "00" "1615" "0" "1615" "0" "n.1615G>A" "" "" "" "" "" "" "" "" "-" "0000020475" "00000014" "00" "1249" "0" "1249" "0" "c.1249C>T" "" "p.(Arg417Cys)" "r.(?)" "" "" "" "" "" "-" "0000020475" "00000015" "00" "1627" "0" "1627" "0" "n.1627C>T" "" "" "" "" "" "" "" "" "-" "0000020476" "00000014" "00" "1258" "0" "1258" "0" "c.1258C>T" "" "p.(Arg420Cys)" "r.(?)" "" "" "" "" "" "-" "0000020476" "00000015" "00" "1636" "0" "1636" "0" "n.1636C>T" "" "" "" "" "" "" "" "" "-" "0000020477" "00000014" "00" "1279" "-7" "1279" "-7" "c.1279-7A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020477" "00000015" "00" "1657" "-7" "1657" "-7" "n.1657-7A>G" "" "" "" "" "" "" "" "" "-" "0000020478" "00000014" "00" "1298" "0" "1298" "0" "c.1298G>A" "" "p.(Arg433Gln)" "r.(?)" "" "" "" "" "" "-" "0000020478" "00000015" "00" "1676" "0" "1676" "0" "n.1676G>A" "" "" "" "" "" "" "" "" "-" "0000020479" "00000014" "00" "1331" "0" "1331" "0" "c.1331C>T" "" "p.(Ala444Val)" "r.(?)" "" "" "" "" "" "-" "0000020479" "00000015" "00" "1709" "0" "1709" "0" "n.1709C>T" "" "" "" "" "" "" "" "" "-" "0000020480" "00000014" "00" "1398" "0" "1398" "0" "c.1398C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020480" "00000015" "00" "1776" "0" "1776" "0" "n.1776C>T" "" "" "" "" "" "" "" "" "-" "0000020481" "00000014" "00" "1415" "0" "1415" "0" "c.1415G>A" "" "p.(Arg472Gln)" "r.(?)" "" "" "" "" "" "-" "0000020481" "00000015" "00" "1793" "0" "1793" "0" "n.1793G>A" "" "" "" "" "" "" "" "" "-" "0000020482" "00000014" "00" "1430" "0" "1430" "0" "c.1430G>A" "" "p.(Arg477Gln)" "r.(?)" "" "" "" "" "" "-" "0000020482" "00000015" "00" "1808" "0" "1808" "0" "n.1808G>A" "" "" "" "" "" "" "" "" "-" "0000020483" "00000014" "00" "1474" "0" "1474" "0" "c.1474C>T" "" "p.(Pro492Ser)" "r.(?)" "" "" "" "" "" "-" "0000020483" "00000015" "00" "1852" "0" "1852" "0" "n.1852C>T" "" "" "" "" "" "" "" "" "-" "0000020484" "00000014" "00" "1476" "0" "1476" "0" "c.1476C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020484" "00000015" "00" "1854" "0" "1854" "0" "n.1854C>T" "" "" "" "" "" "" "" "" "-" "0000020485" "00000014" "00" "1496" "0" "1496" "0" "c.1496A>G" "" "p.(Asn499Ser)" "r.(?)" "" "" "" "" "" "-" "0000020485" "00000015" "00" "1874" "0" "1874" "0" "n.1874A>G" "" "" "" "" "" "" "" "" "-" "0000020486" "00000014" "00" "1552" "0" "1552" "0" "c.1552C>T" "" "p.(Arg518Cys)" "r.(?)" "" "" "" "" "" "-" "0000020486" "00000015" "00" "1930" "0" "1930" "0" "n.1930C>T" "" "" "" "" "" "" "" "" "-" "0000020487" "00000014" "00" "1564" "-6" "1569" "0" "c.1564-6_1569del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000020487" "00000015" "00" "1942" "-6" "1947" "0" "n.1942-6_1947del" "" "" "" "" "" "" "" "" "-" "0000020488" "00000014" "00" "1594" "0" "1594" "0" "c.1594C>T" "" "p.(Arg532Trp)" "r.(?)" "" "" "" "" "" "-" "0000020488" "00000015" "00" "1972" "0" "1972" "0" "n.1972C>T" "" "" "" "" "" "" "" "" "-" "0000020489" "00000014" "00" "1595" "0" "1595" "0" "c.1595G>A" "" "p.(Arg532Gln)" "r.(?)" "" "" "" "" "" "-" "0000020489" "00000015" "00" "1973" "0" "1973" "0" "n.1973G>A" "" "" "" "" "" "" "" "" "-" "0000020490" "00000014" "00" "1650" "0" "1650" "0" "c.1650C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020490" "00000015" "00" "2028" "0" "2028" "0" "n.2028C>G" "" "" "" "" "" "" "" "" "-" "0000020491" "00000014" "00" "1675" "0" "1675" "0" "c.1675C>A" "" "p.(Arg559Ser)" "r.(?)" "" "" "" "" "" "-" "0000020491" "00000015" "00" "2053" "0" "2053" "0" "n.2053C>A" "" "" "" "" "" "" "" "" "-" "0000020492" "00000014" "00" "1687" "0" "1687" "0" "c.1687C>G" "" "p.(His563Asp)" "r.(?)" "" "" "" "" "" "-" "0000020492" "00000015" "00" "2065" "0" "2065" "0" "n.2065C>G" "" "" "" "" "" "" "" "" "-" "0000020493" "00000014" "00" "1765" "13" "1765" "13" "c.1765+13T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020493" "00000015" "00" "2143" "13" "2143" "13" "n.2143+13T>C" "" "" "" "" "" "" "" "" "-" "0000020494" "00000014" "00" "1846" "0" "1846" "0" "c.1846C>T" "" "p.(Pro616Ser)" "r.(?)" "" "" "" "" "" "-" "0000020494" "00000015" "00" "2224" "0" "2224" "0" "n.2224C>T" "" "" "" "" "" "" "" "" "-" "0000020495" "00000014" "00" "1892" "0" "1892" "0" "c.*26C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020495" "00000015" "00" "2270" "0" "2270" "0" "n.2270C>T" "" "" "" "" "" "" "" "" "-" "0000020496" "00000014" "00" "1897" "0" "1897" "0" "c.*31G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020496" "00000015" "00" "2275" "0" "2275" "0" "n.2275G>A" "" "" "" "" "" "" "" "" "-" "0000020497" "00000014" "00" "1934" "0" "1934" "0" "c.*68C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020497" "00000015" "00" "2312" "0" "2312" "0" "n.2312C>T" "" "" "" "" "" "" "" "" "-" "0000020498" "00000014" "00" "1958" "0" "1958" "0" "c.*92A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020498" "00000015" "00" "2336" "0" "2336" "0" "n.2336A>C" "" "" "" "" "" "" "" "" "-" "0000020499" "00000014" "00" "2089" "0" "2090" "0" "c.*223_*224del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020499" "00000015" "00" "2467" "0" "2468" "0" "n.2467_2468del" "" "" "" "" "" "" "" "" "-" "0000020500" "00000014" "00" "2197" "0" "2197" "0" "c.*331T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020500" "00000015" "00" "2575" "0" "2575" "0" "n.2575T>G" "" "" "" "" "" "" "" "" "-" "0000020501" "00000014" "00" "2370" "0" "2370" "0" "c.*504G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020501" "00000015" "00" "2748" "0" "2748" "0" "n.2748G>A" "" "" "" "" "" "" "" "" "-" "0000026106" "00000014" "00" "453" "2" "453" "2" "c.453+2T>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026106" "00000015" "00" "831" "2" "831" "2" "n.831+2T>A" "" "" "" "" "" "" "" "" "-" "0000026107" "00000014" "00" "1405" "0" "1405" "0" "c.1405C>T" "" "p.(Arg469Trp)" "r.(?)" "" "" "" "" "" "-" "0000026107" "00000015" "00" "1783" "0" "1783" "0" "n.1783C>T" "" "" "" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0