### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACADS) # 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}}" "ACADS" "acyl-CoA dehydrogenase, C-2 to C-3 short chain" "12" "q24.31" "unknown" "NC_000012.11" "UD_138431318399" "" "" "" "1" "1" "90" "35" "606885" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; 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 = 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}}" "00000385" "ACADS" "transcript variant X1" "001" "XM_005253878.1" "" "XP_005253935.1" "" "" "" "-145" "1787" "1227" "121163544" "121177811" "00001" "2013-11-12 21:26:30" "" "" "" "12" "00000386" "ACADS" "acyl-CoA dehydrogenase, C-2 to C-3 short chain" "002" "NM_000017.2" "" "NP_000008.1" "" "" "" "-118" "1799" "1239" "121163571" "121177811" "00001" "2013-11-12 21:26:30" "" "" "" "12" ## 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}}" "00435" "ACADSD" "ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD" "201470" "" "" "" "00001" "2014-04-10 15:30:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ACADS" "00435" ## 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 = 147 "{{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}}" "0000000485" "0" "99" "12" "121164918" "121164918" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 16:51:32" "ACADS_000017" "g.121164918C>T" "" "{PMID:2808706:2808706}" "" "rs121908003" "subst" "0" "; clinvar;" "3.560" "" "" "" "" "MSCV_0000485" "" "0000000486" "0" "99" "12" "121164946" "121164946" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-05-01 07:52:34" "ACADS_000015" "g.121164946C>T" "" "{PMID:20376488:20376488}" "" "rs147442301" "subst" "0" "; clinvar;" "4.460" "" "" "" "" "MSCV_0000486" "" "0000000487" "0" "99" "12" "121174846" "121174846" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 16:29:52" "ACADS_000016" "g.121174846G>A" "" "{PMID:11134486:11134486}" "" "rs121908005" "subst" "0" "; clinvar;" "4.860" "" "" "" "" "MSCV_0000487" "" "0000000488" "0" "99" "12" "121174852" "121174852" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 16:40:28" "ACADS_000014" "g.121174852G>T" "" "{PMID:9499414:9499414}" "" "rs121908004" "subst" "0" "; clinvar;" "3.960" "" "" "" "" "MSCV_0000488" "" "0000000489" "0" "55" "12" "121174885" "121174887" "del" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 16:29:52" "ACADS_000012" "g.121174885_121174887del" "" "{PMID:11134486:11134486}" "" "rs387906308" "del" "0" ";" "" "" "" "" "" "MSCV_0000489" "" "0000000490" "0" "99" "12" "121174888" "121174890" "del" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 16:29:52" "ACADS_000013" "g.121174888_121174890del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0000490" "" "0000000491" "0" "99" "12" "121174897" "121174897" "subst" "35" "0.000846284" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 16:49:17" "ACADS_000008" "g.121174897C>T" "" "{PMID:18054510:18054510};{PMID:2808706:2808706}" "" "rs61732144" "subst" "0" "; clinvar;" "3.880" "" "" "" "" "MSCV_0000491" "" "0000000492" "0" "99" "12" "121174901" "121174901" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 16:29:52" "ACADS_000009" "g.121174901G>A" "" "{PMID:20376488:20376488}" "" "rs387906951" "subst" "0" "; clinvar;" "3.950" "" "" "" "" "MSCV_0000492" "" "0000000493" "0" "99" "12" "121175678" "121175678" "subst" "35" "0.0342919" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 15:40:00" "ACADS_000010" "g.121175678C>T" "" "{PMID:9499414:9499414};{PMID:11134486:11134486};{PMID:19800078:19800078}" "" "rs1800556" "subst" "0" "; clinvar;" "2.100" "" "" "" "" "MSCV_0000493" "" "0000000494" "0" "99" "12" "121175696" "121175696" "subst" "35" "0.00230663" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 16:51:47" "ACADS_000011" "g.121175696T>C" "" "{PMID:9499414:9499414}" "" "rs57443665" "subst" "0" "; clinvar;" "5.160" "" "" "" "" "MSCV_0000494" "" "0000000495" "0" "99" "12" "121175742" "121175742" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-08-31 15:18:19" "ACADS_000001" "g.121175742C>T" "" "{PMID:11134486:11134486}" "" "rs28940874" "subst" "0" "; clinvar;" "4.950" "" "" "" "" "MSCV_0000495" "" "0000000496" "0" "11" "12" "121176083" "121176083" "subst" "35" "0.196832" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 15:24:59" "ACADS_000002" "g.121176083G>A" "" "{PMID:19800078:19800078};{PMID:11134486:11134486};{PMID:23757202:23757202}" "" "rs1799958" "subst" "0" "; clinvar;" "4.640" "" "" "" "" "MSCV_0000496" "" "0000000497" "0" "99" "12" "121176662" "121176662" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 15:25:40" "ACADS_000003" "g.121176662C>T" "" "{PMID:11134486:11134486}" "" "rs121908006" "subst" "0" "; clinvar;" "4.630" "" "" "" "" "MSCV_0000497" "" "0000000498" "0" "99" "12" "121176944" "121176944" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 16:48:49" "ACADS_000004" "g.121176944A>G" "" "{PMID:20376488:20376488}" "" "rs387906950" "subst" "0" "; clinvar;" "4.730" "" "" "" "" "MSCV_0000498" "" "0000000499" "0" "99" "12" "121176971" "121176971" "subst" "35" "0.000156226" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-06-22 09:17:56" "ACADS_000005" "g.121176971C>T" "" "{PMID:11134486:11134486}" "" "rs28941773" "subst" "0" "; clinvar;" "4.730" "" "" "" "" "MSCV_0000499" "" "0000000500" "0" "99" "12" "121177150" "121177150" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 15:24:27" "ACADS_000006" "g.121177150C>T" "" "{PMID:11134486:11134486}" "" "rs28940875" "subst" "0" "; clinvar;" "3.840" "" "" "" "" "MSCV_0000500" "" "0000000501" "0" "99" "12" "121177159" "121177159" "subst" "35" "0.000538379" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 15:28:31" "ACADS_000007" "g.121177159C>T" "" "{PMID:11134486:11134486};{PMID:9499414:9499414}" "" "rs28940872" "subst" "0" "; clinvar;" "4.740" "" "" "" "" "MSCV_0000501" "" "0000002181" "0" "99" "12" "121175696" "121175696" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-28 15:26:25" "ACADS_000018" "g.121175696T>G" "" "{PMID:9499414:9499414}" "" "rs57443665" "subst" "0" "; clinvar;" "5.160" "" "" "" "" "MSCV_0002181" "" "0000005182" "0" "99" "12" "121175696" "121175696" "subst" "51" "0.00230663" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2023-04-23 16:29:52" "ACADS_000011" "g.121175696T>C" "" "{PMID:9499414:9499414}" "" "rs57443665" "subst" "0" "; ensembl;" "5.160" "" "" "" "" "MSCV_0005182" "" "0000005183" "0" "99" "12" "121175696" "121175696" "subst" "51" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2023-04-23 16:29:52" "ACADS_000018" "g.121175696T>G" "" "{PMID:9499414:9499414}" "" "rs57443665" "subst" "0" "; ensembl;" "5.160" "" "" "" "" "MSCV_0005183" "" "0000005184" "0" "99" "12" "121175742" "121175742" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2024-03-12 09:11:13" "ACADS_000001" "g.121175742C>T" "" "{PMID:11134486:11134486}" "" "rs28940874" "subst" "0" "; ensembl;" "4.950" "" "" "" "" "MSCV_0005184" "" "0000005185" "0" "99" "12" "121176971" "121176971" "subst" "35" "0.000156226" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2018-09-06 19:13:04" "ACADS_000005" "g.121176971C>T" "" "{PMID:11134486:11134486}" "" "rs28941773" "subst" "0" "; ensembl;" "4.730" "" "" "" "" "MSCV_0005185" "" "0000005186" "0" "99" "12" "121177150" "121177150" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2020-07-19 21:59:47" "ACADS_000006" "g.121177150C>T" "" "{PMID:11134486:11134486}" "" "rs28940875" "subst" "0" "; ensembl;" "3.840" "" "" "" "" "MSCV_0005186" "" "0000005187" "0" "99" "12" "121177159" "121177159" "subst" "35" "0.000538379" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2018-09-06 19:52:03" "ACADS_000007" "g.121177159C>T" "" "{PMID:11134486:11134486};{PMID:9499414:9499414}" "" "rs28940872" "subst" "0" "; ensembl;" "4.740" "" "" "" "" "MSCV_0005187" "" "0000016964" "0" "55" "12" "121163633" "121163633" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:39:17" "ACADS_000082" "g.121163633C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016964" "" "0000016965" "0" "55" "12" "121163633" "121163633" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:27:54" "ACADS_000083" "g.121163633C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016965" "" "0000016966" "0" "00" "12" "121163718" "121163718" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 13:55:16" "ACADS_000084" "g.121163718del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016966" "" "0000016967" "0" "55" "12" "121164849" "121164849" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 13:55:16" "ACADS_000081" "g.121164849C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016967" "" "0000016968" "0" "00" "12" "121164904" "121164914" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 13:55:16" "ACADS_000040" "g.121164904_121164914del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016968" "" "0000016969" "0" "99" "12" "121164918" "121164918" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:27:40" "ACADS_000017" "g.121164918C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000485" "" "0000016970" "0" "99" "12" "121164946" "121164946" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:40:35" "ACADS_000015" "g.121164946C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000486" "" "0000016971" "0" "55" "12" "121164986" "121164986" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:40:59" "ACADS_000041" "g.121164986G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016971" "" "0000016972" "0" "77" "12" "121174788" "121174788" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:28:20" "ACADS_000042" "g.121174788G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016972" "" "0000016973" "0" "99" "12" "121174846" "121174846" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:29:52" "ACADS_000016" "g.121174846G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000487" "" "0000016974" "0" "99" "12" "121174852" "121174852" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:29:09" "ACADS_000014" "g.121174852G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000488" "" "0000016975" "0" "55" "12" "121174882" "121174882" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:29:52" "ACADS_000043" "g.121174882A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016975" "" "0000016976" "0" "00" "12" "121174884" "121174886" "del" "35" "0.000240115" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:49:05" "ACADS_000044" "g.121174884_121174886del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016976" "" "0000016977" "0" "77" "12" "121174893" "121174893" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:40:09" "ACADS_000046" "g.121174893del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016977" "" "0000016978" "0" "55" "12" "121174892" "121174892" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:28:00" "ACADS_000045" "g.121174892T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016978" "" "0000016979" "0" "99" "12" "121174897" "121174897" "subst" "35" "0.000846284" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:26:34" "ACADS_000008" "g.121174897C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000491" "" "0000016980" "0" "11" "12" "121174899" "121174899" "subst" "35" "0.50677" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:28:54" "ACADS_000047" "g.121174899T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016980" "" "0000016981" "0" "99" "12" "121174901" "121174901" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:29:52" "ACADS_000009" "g.121174901G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000492" "" "0000016982" "0" "55" "12" "121174914" "121174914" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:50:20" "ACADS_000048" "g.121174914C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016982" "" "0000016983" "0" "33" "12" "121174938" "121174938" "subst" "35" "0.00693695" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:27:23" "ACADS_000049" "g.121174938C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016983" "" "0000016984" "0" "55" "12" "121175162" "121175162" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:22:37" "ACADS_000050" "g.121175162C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016984" "" "0000016985" "0" "99" "12" "121175167" "121175167" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-01-10 04:05:40" "ACADS_000051" "g.121175167C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016985" "" "0000016986" "0" "55" "12" "121175178" "121175178" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:29:52" "ACADS_000019" "g.121175178T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016986" "" "0000016987" "0" "77" "12" "121175207" "121175207" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-25 16:42:09" "ACADS_000020" "g.121175207C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016987" "" "0000016988" "0" "77" "12" "121175215" "121175215" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:49:14" "ACADS_000021" "g.121175215G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016988" "" "0000016989" "0" "33" "12" "121175221" "121175221" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:28:26" "ACADS_000022" "g.121175221G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016989" "" "0000016990" "0" "55" "12" "121175223" "121175223" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:25:53" "ACADS_000023" "g.121175223C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016990" "" "0000016991" "0" "55" "12" "121175258" "121175258" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:39:58" "ACADS_000024" "g.121175258C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016991" "" "0000016992" "0" "77" "12" "121175263" "121175263" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:30:31" "ACADS_000025" "g.121175263C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016992" "" "0000016993" "0" "77" "12" "121175638" "121175638" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-25 16:42:09" "ACADS_000026" "g.121175638A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016993" "" "0000016994" "0" "77" "12" "121175678" "121175678" "subst" "51" "0.0342919" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:29:52" "ACADS_000010" "g.121175678C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000493" "" "0000016995" "0" "77" "12" "121175694" "121175694" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:40:13" "ACADS_000027" "g.121175694C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016995" "" "0000016996" "0" "99" "12" "121175696" "121175696" "subst" "35" "0.00230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:30:38" "ACADS_000011" "g.121175696T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000494" "" "0000016997" "0" "55" "12" "121175719" "121175719" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:29:52" "ACADS_000028" "g.121175719C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016997" "" "0000016998" "0" "55" "12" "121175742" "121175742" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:24:16" "ACADS_000001" "g.121175742C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000495" "" "0000016999" "0" "77" "12" "121175759" "121175760" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:28:42" "ACADS_000029" "g.121175759_121175760del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016999" "" "0000017000" "0" "77" "12" "121175799" "121175799" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:29:06" "ACADS_000030" "g.121175799C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017000" "" "0000017001" "0" "55" "12" "121175802" "121175802" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:40:21" "ACADS_000031" "g.121175802C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017001" "" "0000017002" "0" "77" "12" "121176083" "121176083" "subst" "35" "0.196832" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-28 15:33:25" "ACADS_000002" "g.121176083G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000496" "" "0000017003" "0" "00" "12" "121176129" "121176130" "ins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:29:52" "ACADS_000032" "g.121176129_121176130insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017003" "" "0000017004" "0" "99" "12" "121176139" "121176140" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:29:52" "ACADS_000033" "g.121176139_121176140del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017004" "" "0000017005" "0" "77" "12" "121176322" "121176322" "subst" "35" "0.00276923" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-04 01:27:18" "ACADS_000034" "g.121176322G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017005" "" "0000017006" "0" "77" "12" "121176354" "121176354" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-03-28 09:26:01" "ACADS_000035" "g.121176354C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017006" "" "0000017007" "0" "55" "12" "121176361" "121176361" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:29:52" "ACADS_000036" "g.121176361G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017007" "" "0000017008" "0" "55" "12" "121176365" "121176365" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:25:16" "ACADS_000037" "g.121176365C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017008" "" "0000017009" "0" "55" "12" "121176399" "121176399" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-18 12:46:45" "ACADS_000038" "g.121176399C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017009" "" "0000017010" "0" "55" "12" "121176408" "121176408" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-07 07:21:40" "ACADS_000039" "g.121176408G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017010" "" "0000017011" "0" "00" "12" "121176446" "121176447" "ins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 16:29:52" "ACADS_000052" "g.121176446_121176447insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017011" "" "0000017012" "0" "77" "12" "121176662" "121176662" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:39:48" "ACADS_000003" "g.121176662C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000497" "" "0000017013" "0" "11" "12" "121176679" "121176679" "subst" "51" "0.591958" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 13:55:16" "ACADS_000053" "g.121176679C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017013" "" "0000017014" "0" "77" "12" "121176719" "121176719" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-25 16:42:09" "ACADS_000054" "g.121176719G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017014" "" "0000017015" "0" "77" "12" "121176944" "121176944" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 13:55:16" "ACADS_000055" "g.121176944del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017015" "" "0000017016" "0" "77" "12" "121176944" "121176944" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:29:32" "ACADS_000004" "g.121176944A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000498" "" "0000017017" "0" "77" "12" "121176971" "121176971" "subst" "35" "0.000156226" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:28:11" "ACADS_000005" "g.121176971C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000499" "" "0000017018" "0" "77" "12" "121176997" "121176997" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-11-13 09:13:19" "ACADS_000079" "g.121176997C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017018" "" "0000017019" "0" "77" "12" "121176997" "121176997" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:24:46" "ACADS_000080" "g.121176997C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017019" "" "0000017020" "0" "99" "12" "121177107" "121177107" "subst" "35" "0.000154012" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:25:10" "ACADS_000078" "g.121177107G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017020" "" "0000017021" "0" "55" "12" "121177114" "121177114" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:51:16" "ACADS_000074" "g.121177114G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017021" "" "0000017022" "0" "55" "12" "121177116" "121177116" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:28:43" "ACADS_000075" "g.121177116C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017022" "" "0000017023" "0" "55" "12" "121177120" "121177120" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:40:36" "ACADS_000076" "g.121177120A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017023" "" "0000017024" "0" "77" "12" "121177142" "121177142" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:26:54" "ACADS_000077" "g.121177142C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017024" "" "0000017025" "0" "99" "12" "121177150" "121177150" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:50:11" "ACADS_000006" "g.121177150C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000500" "" "0000017026" "0" "99" "12" "121177159" "121177159" "subst" "35" "0.000538379" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:40:06" "ACADS_000007" "g.121177159C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000501" "" "0000017027" "0" "77" "12" "121177168" "121177168" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:29:00" "ACADS_000056" "g.121177168C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017027" "" "0000017028" "0" "77" "12" "121177176" "121177177" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-12-30 08:16:59" "ACADS_000057" "g.121177176_121177177del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017028" "" "0000017029" "0" "77" "12" "121177204" "121177204" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:40:44" "ACADS_000058" "g.121177204C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017029" "" "0000017030" "0" "55" "12" "121177210" "121177210" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-14 22:56:38" "ACADS_000059" "g.121177210C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017030" "" "0000017031" "0" "77" "12" "121177255" "121177255" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:24:35" "ACADS_000060" "g.121177255C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017031" "" "0000017032" "0" "33" "12" "121177256" "121177256" "subst" "35" "0.0251427" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:41:07" "ACADS_000061" "g.121177256G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017032" "" "0000017033" "0" "11" "12" "121177272" "121177272" "subst" "35" "0.19792" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:39:45" "ACADS_000062" "g.121177272G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017033" "" "0000017034" "0" "55" "12" "121177278" "121177278" "subst" "35" "0.000544917" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:51:28" "ACADS_000063" "g.121177278C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017034" "" "0000017035" "0" "55" "12" "121177342" "121177342" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 14:28:36" "ACADS_000064" "g.121177342G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017035" "" "0000017036" "0" "33" "12" "121177366" "121177366" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:30:48" "ACADS_000065" "g.121177366G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017036" "" "0000017037" "0" "55" "12" "121177425" "121177425" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:23:48" "ACADS_000066" "g.121177425G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017037" "" "0000017038" "0" "55" "12" "121177451" "121177451" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:39:35" "ACADS_000067" "g.121177451C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017038" "" "0000017039" "0" "33" "12" "121177500" "121177500" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:24:11" "ACADS_000068" "g.121177500G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017039" "" "0000017040" "0" "55" "12" "121177517" "121177517" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:41:18" "ACADS_000069" "g.121177517G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017040" "" "0000017041" "0" "33" "12" "121177561" "121177561" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 15:24:00" "ACADS_000070" "g.121177561C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017041" "" "0000017042" "0" "33" "12" "121177638" "121177638" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:49:50" "ACADS_000071" "g.121177638A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017042" "" "0000017043" "0" "33" "12" "121177751" "121177751" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:00:00" "ACADS_000072" "g.121177751G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017043" "" "0000017044" "0" "11" "12" "121177778" "121177778" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:00:17" "ACADS_000073" "g.121177778A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017044" "" "0000024640" "0" "00" "12" "121163689" "121163689" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-13 11:15:55" "ACADS_000085" "g.121163689A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024641" "0" "00" "12" "121163716" "121163717" "ins" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-13 11:15:55" "ACADS_000086" "g.121163716_121163717insCGGGCCC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024642" "0" "00" "12" "121164823" "121164823" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:53:36" "ACADS_000087" "g.121164823C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024643" "0" "00" "12" "121164888" "121164889" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:53:45" "ACADS_000088" "g.121164888_121164889insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024644" "0" "00" "12" "121174855" "121174855" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:53:53" "ACADS_000089" "g.121174855C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024645" "0" "00" "12" "121174904" "121174906" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 16:29:52" "ACADS_000090" "g.121174904_121174906del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024646" "0" "00" "12" "121174906" "121174906" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 16:29:52" "ACADS_000091" "g.121174906G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024647" "0" "00" "12" "121175229" "121175229" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:54:20" "ACADS_000092" "g.121175229C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024648" "0" "00" "12" "121175257" "121175258" "ins" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 16:29:52" "ACADS_000093" "g.121175257_121175258insCAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024649" "0" "00" "12" "121175259" "121175259" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 16:29:52" "ACADS_000094" "g.121175259T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024650" "0" "00" "12" "121175259" "121175260" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:55:02" "ACADS_000095" "g.121175259_121175260insCAG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024651" "0" "00" "12" "121175672" "121175672" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:55:10" "ACADS_000096" "g.121175672A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024652" "0" "00" "12" "121175763" "121175763" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:55:19" "ACADS_000097" "g.121175763C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024653" "0" "00" "12" "121176140" "121176140" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:55:27" "ACADS_000098" "g.121176140G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024654" "0" "00" "12" "121176158" "121176158" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-09-09 20:56:48" "ACADS_000099" "g.121176158C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024655" "0" "00" "12" "121176355" "121176355" "subst" "51" "0.0000768994" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 16:29:52" "ACADS_000100" "g.121176355G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024656" "0" "00" "12" "121176360" "121176360" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:55:53" "ACADS_000101" "g.121176360G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024657" "0" "00" "12" "121176366" "121176366" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 16:29:52" "ACADS_000102" "g.121176366G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024658" "0" "00" "12" "121176382" "121176382" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 16:29:52" "ACADS_000103" "g.121176382G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024659" "0" "00" "12" "121176630" "121176638" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:56:20" "ACADS_000104" "g.121176630_121176638del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024660" "0" "00" "12" "121176636" "121176637" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:56:28" "ACADS_000105" "g.121176636_121176637insCATGGC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024661" "0" "00" "12" "121176663" "121176663" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:56:37" "ACADS_000106" "g.121176663G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024662" "0" "00" "12" "121176670" "121176672" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-25 13:55:16" "ACADS_000107" "g.121176670_121176672del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024663" "0" "00" "12" "121176677" "121176677" "subst" "35" "0.000461326" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:57:02" "ACADS_000108" "g.121176677C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024664" "0" "00" "12" "121176678" "121176678" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:57:11" "ACADS_000109" "g.121176678G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024665" "0" "00" "12" "121176680" "121176680" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-18 01:36:45" "ACADS_000126" "g.121176680G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024666" "0" "00" "12" "121176684" "121176684" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:32:39" "ACADS_000125" "g.121176684C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024667" "0" "00" "12" "121176942" "121176942" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:03:09" "ACADS_000123" "g.121176942G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024668" "0" "00" "12" "121176967" "121176967" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-25 13:55:16" "ACADS_000124" "g.121176967G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024669" "0" "00" "12" "121176970" "121176970" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:14:50" "ACADS_000116" "g.121176970T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024670" "0" "00" "12" "121176977" "121176977" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:02" "ACADS_000117" "g.121176977C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024671" "0" "00" "12" "121176979" "121176979" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:13" "ACADS_000118" "g.121176979G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024672" "0" "00" "12" "121176999" "121176999" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:21" "ACADS_000119" "g.121176999del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024673" "0" "00" "12" "121177000" "121177000" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:30" "ACADS_000120" "g.121177000G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024674" "0" "00" "12" "121177000" "121177000" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:39" "ACADS_000121" "g.121177000G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024675" "0" "00" "12" "121177124" "121177124" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:15:47" "ACADS_000122" "g.121177124G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024676" "0" "00" "12" "121177158" "121177158" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:46:15" "ACADS_000112" "g.121177158C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024677" "0" "00" "12" "121177160" "121177160" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:46:24" "ACADS_000113" "g.121177160G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024678" "0" "00" "12" "121177165" "121177165" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:46:32" "ACADS_000114" "g.121177165G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024679" "0" "00" "12" "121177193" "121177193" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:46:41" "ACADS_000115" "g.121177193del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024680" "0" "00" "12" "121177225" "121177225" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:11:02" "ACADS_000110" "g.121177225del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024681" "0" "00" "12" "121177243" "121177243" "subst" "35" "0.0000769704" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:11:11" "ACADS_000111" "g.121177243C>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 = 294 "{{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}}" "0000000485" "00000385" "99" "136" "0" "136" "0" "c.136C>T" "2/10" "p.(Arg46Trp)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000000485" "00000386" "99" "136" "0" "136" "0" "c.136C>T" "2/10" "p.(Arg46Trp)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000000486" "00000385" "99" "164" "0" "164" "0" "c.164C>T" "2/10" "p.(Pro55Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000486" "00000386" "99" "164" "0" "164" "0" "c.164C>T" "2/10" "p.(Pro55Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000487" "00000385" "99" "268" "0" "268" "0" "c.268G>A" "3/10" "p.(Gly90Ser)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000487" "00000386" "99" "268" "0" "268" "0" "c.268G>A" "3/10" "p.(Gly90Ser)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000488" "00000385" "99" "274" "0" "274" "0" "c.274G>T" "3/10" "p.(Gly92Cys)" "r.(?)" "probably_damaging(0.932)" "" "missense_variant" "" "" "deleterious(0)" "0000000488" "00000386" "99" "274" "0" "274" "0" "c.274G>T" "3/10" "p.(Gly92Cys)" "r.(?)" "probably_damaging(0.932)" "" "missense_variant" "" "" "deleterious(0)" "0000000489" "00000385" "55" "307" "0" "309" "0" "c.307_309del" "" "p.(Glu104del)" "r.(?)" "" "" "" "" "" "-" "0000000489" "00000386" "55" "307" "0" "309" "0" "c.307_309del" "" "p.(Glu104del)" "r.(?)" "" "" "" "" "" "-" "0000000490" "00000385" "55" "310" "0" "312" "0" "c.310_312del" "" "p.(Glu104del)" "r.(?)" "" "" "" "" "" "-" "0000000490" "00000386" "55" "310" "0" "312" "0" "c.310_312del" "" "p.(Glu104del)" "r.(?)" "" "" "" "" "" "-" "0000000491" "00000385" "99" "319" "0" "319" "0" "c.319C>T" "3/10" "p.(Arg107Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000491" "00000386" "99" "319" "0" "319" "0" "c.319C>T" "3/10" "p.(Arg107Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000492" "00000385" "99" "323" "0" "323" "0" "c.323G>A" "3/10" "p.(Gly108Asp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "tolerated(0.2)" "0000000492" "00000386" "99" "323" "0" "323" "0" "c.323G>A" "3/10" "p.(Gly108Asp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "tolerated(0.2)" "0000000493" "00000385" "99" "473" "-174" "473" "-174" "c.473-174C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000493" "00000386" "99" "511" "0" "511" "0" "c.511C>T" "5/10" "p.(Arg171Trp)" "r.(?)" "benign(0.006)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000494" "00000385" "00" "473" "-156" "473" "-156" "c.473-156T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000494" "00000386" "99" "529" "0" "529" "0" "c.529T>C" "5/10" "p.(Trp177Arg)" "r.(?)" "probably_damaging(0.988)" "" "missense_variant" "" "" "deleterious(0)" "0000000495" "00000385" "00" "473" "-110" "473" "-110" "c.473-110C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000495" "00000386" "99" "575" "0" "575" "0" "c.575C>T" "5/10" "p.(Ala192Val)" "r.(?)" "probably_damaging(0.968)" "" "missense_variant" "" "" "deleterious(0)" "0000000496" "00000385" "11" "613" "0" "613" "0" "c.613G>A" "6/10" "p.(Gly205Ser)" "r.(?)" "possibly_damaging(0.757)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.01)" "0000000496" "00000386" "11" "625" "0" "625" "0" "c.625G>A" "6/10" "p.(Gly209Ser)" "r.(?)" "benign(0.342)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.02)" "0000000497" "00000385" "99" "961" "0" "961" "0" "c.961C>T" "8/10" "p.(Arg321Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000497" "00000386" "99" "973" "0" "973" "0" "c.973C>T" "8/10" "p.(Arg325Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000498" "00000385" "99" "1019" "0" "1019" "0" "c.1019A>G" "9/10" "p.(Glu340Gly)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.01)" "0000000498" "00000386" "99" "1031" "0" "1031" "0" "c.1031A>G" "9/10" "p.(Glu344Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0.01)" "0000000499" "00000385" "00" "1046" "0" "1046" "0" "c.1046C>T" "" "p.(Ser349Leu)" "r.(?)" "" "" "" "" "" "-" "0000000499" "00000386" "99" "1058" "0" "1058" "0" "c.1058C>T" "9/10" "p.(Ser353Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000500" "00000385" "00" "1126" "0" "1126" "0" "c.1126C>T" "" "p.(Arg376Trp)" "r.(?)" "" "" "" "" "" "-" "0000000500" "00000386" "99" "1138" "0" "1138" "0" "c.1138C>T" "10/10" "p.(Arg380Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000501" "00000385" "00" "1135" "0" "1135" "0" "c.1135C>T" "" "p.(Arg379Cys)" "r.(?)" "" "" "" "" "" "-" "0000000501" "00000386" "99" "1147" "0" "1147" "0" "c.1147C>T" "10/10" "p.(Arg383Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000002181" "00000385" "00" "473" "-156" "473" "-156" "c.473-156T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000002181" "00000386" "99" "529" "0" "529" "0" "c.529T>G" "5/10" "p.(Trp177Gly)" "r.(?)" "probably_damaging(0.961)" "" "missense_variant" "" "" "deleterious(0)" "0000005182" "00000385" "00" "473" "-156" "473" "-156" "c.473-156T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005182" "00000386" "00" "529" "0" "529" "0" "c.529T>C" "5/10" "p.(Trp177Arg)" "r.(?)" "probably_damaging(0.988)" "" "missense_variant" "" "" "deleterious(0)" "0000005183" "00000385" "00" "473" "-156" "473" "-156" "c.473-156T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005183" "00000386" "00" "529" "0" "529" "0" "c.529T>G" "5/10" "p.(Trp177Gly)" "r.(?)" "probably_damaging(0.961)" "" "missense_variant" "" "" "deleterious(0)" "0000005184" "00000385" "00" "473" "-110" "473" "-110" "c.473-110C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005184" "00000386" "00" "575" "0" "575" "0" "c.575C>T" "5/10" "p.(Ala192Val)" "r.(?)" "probably_damaging(0.968)" "" "missense_variant" "" "" "deleterious(0)" "0000005185" "00000385" "00" "1046" "0" "1046" "0" "c.1046C>T" "9/10" "p.(Ser349Leu)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000005185" "00000386" "00" "1058" "0" "1058" "0" "c.1058C>T" "9/10" "p.(Ser353Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005186" "00000385" "00" "1126" "0" "1126" "0" "c.1126C>T" "10/10" "p.(Arg376Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005186" "00000386" "00" "1138" "0" "1138" "0" "c.1138C>T" "10/10" "p.(Arg380Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005187" "00000385" "00" "1135" "0" "1135" "0" "c.1135C>T" "10/10" "p.(Arg379Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005187" "00000386" "00" "1147" "0" "1147" "0" "c.1147C>T" "10/10" "p.(Arg383Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000016964" "00000385" "00" "-56" "0" "-56" "0" "c.-56C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016964" "00000386" "00" "-56" "0" "-56" "0" "c.-56C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016965" "00000385" "00" "-56" "0" "-56" "0" "c.-56C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016965" "00000386" "00" "-56" "0" "-56" "0" "c.-56C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016966" "00000385" "00" "30" "0" "30" "0" "c.30del" "" "p.(Gly11Alafs*61)" "r.(?)" "" "" "" "" "" "-" "0000016966" "00000386" "00" "30" "0" "30" "0" "c.30del" "" "p.(Gly11Alafs*61)" "r.(?)" "" "" "" "" "" "-" "0000016967" "00000385" "00" "67" "0" "67" "0" "c.67C>T" "" "p.(Arg23Trp)" "r.(?)" "" "" "" "" "" "-" "0000016967" "00000386" "00" "67" "0" "67" "0" "c.67C>T" "" "p.(Arg23Trp)" "r.(?)" "" "" "" "" "" "-" "0000016968" "00000385" "00" "122" "0" "132" "0" "c.122_132del" "" "p.(Leu42Profs*17)" "r.(?)" "" "" "" "" "" "-" "0000016968" "00000386" "00" "122" "0" "132" "0" "c.122_132del" "" "p.(Leu42Profs*17)" "r.(?)" "" "" "" "" "" "-" "0000016969" "00000385" "00" "136" "0" "136" "0" "c.136C>T" "" "p.(Arg46Trp)" "r.(?)" "" "" "" "" "" "-" "0000016969" "00000386" "00" "136" "0" "136" "0" "c.136C>T" "" "p.(Arg46Trp)" "r.(?)" "" "" "" "" "" "-" "0000016970" "00000385" "00" "164" "0" "164" "0" "c.164C>T" "" "p.(Pro55Leu)" "r.(?)" "" "" "" "" "" "-" "0000016970" "00000386" "00" "164" "0" "164" "0" "c.164C>T" "" "p.(Pro55Leu)" "r.(?)" "" "" "" "" "" "-" "0000016971" "00000385" "00" "204" "0" "204" "0" "c.204G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016971" "00000386" "00" "204" "0" "204" "0" "c.204G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016972" "00000385" "00" "211" "-1" "211" "-1" "c.211-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016972" "00000386" "00" "211" "-1" "211" "-1" "c.211-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016973" "00000385" "00" "268" "0" "268" "0" "c.268G>A" "" "p.(Gly90Ser)" "r.(?)" "" "" "" "" "" "-" "0000016973" "00000386" "00" "268" "0" "268" "0" "c.268G>A" "" "p.(Gly90Ser)" "r.(?)" "" "" "" "" "" "-" "0000016974" "00000385" "00" "274" "0" "274" "0" "c.274G>T" "" "p.(Gly92Cys)" "r.(?)" "" "" "" "" "" "-" "0000016974" "00000386" "00" "274" "0" "274" "0" "c.274G>T" "" "p.(Gly92Cys)" "r.(?)" "" "" "" "" "" "-" "0000016975" "00000385" "00" "304" "0" "304" "0" "c.304A>G" "" "p.(Met102Val)" "r.(?)" "" "" "" "" "" "-" "0000016975" "00000386" "00" "304" "0" "304" "0" "c.304A>G" "" "p.(Met102Val)" "r.(?)" "" "" "" "" "" "-" "0000016976" "00000385" "00" "306" "0" "308" "0" "c.306_308del" "" "p.(Glu104del)" "r.(?)" "" "" "" "" "" "-" "0000016976" "00000386" "00" "306" "0" "308" "0" "c.306_308del" "" "p.(Glu104del)" "r.(?)" "" "" "" "" "" "-" "0000016977" "00000385" "00" "315" "0" "315" "0" "c.315del" "" "p.(Ser106Alafs*11)" "r.(?)" "" "" "" "" "" "-" "0000016977" "00000386" "00" "315" "0" "315" "0" "c.315del" "" "p.(Ser106Alafs*11)" "r.(?)" "" "" "" "" "" "-" "0000016978" "00000385" "00" "314" "0" "314" "0" "c.314T>A" "" "p.(Ile105Asn)" "r.(?)" "" "" "" "" "" "-" "0000016978" "00000386" "00" "314" "0" "314" "0" "c.314T>A" "" "p.(Ile105Asn)" "r.(?)" "" "" "" "" "" "-" "0000016979" "00000385" "00" "319" "0" "319" "0" "c.319C>T" "" "p.(Arg107Cys)" "r.(?)" "" "" "" "" "" "-" "0000016979" "00000386" "00" "319" "0" "319" "0" "c.319C>T" "" "p.(Arg107Cys)" "r.(?)" "" "" "" "" "" "-" "0000016980" "00000385" "00" "321" "0" "321" "0" "c.321T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016980" "00000386" "00" "321" "0" "321" "0" "c.321T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016981" "00000385" "00" "323" "0" "323" "0" "c.323G>A" "" "p.(Gly108Asp)" "r.(?)" "" "" "" "" "" "-" "0000016981" "00000386" "00" "323" "0" "323" "0" "c.323G>A" "" "p.(Gly108Asp)" "r.(?)" "" "" "" "" "" "-" "0000016982" "00000385" "00" "336" "0" "336" "0" "c.336C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016982" "00000386" "00" "336" "0" "336" "0" "c.336C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016983" "00000385" "00" "360" "0" "360" "0" "c.360C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016983" "00000386" "00" "360" "0" "360" "0" "c.360C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016984" "00000385" "00" "364" "0" "364" "0" "c.364C>T" "" "p.(Leu122Phe)" "r.(?)" "" "" "" "" "" "-" "0000016984" "00000386" "00" "364" "0" "364" "0" "c.364C>T" "" "p.(Leu122Phe)" "r.(?)" "" "" "" "" "" "-" "0000016985" "00000385" "00" "369" "0" "369" "0" "c.369C>G" "" "p.(Tyr123*)" "r.(?)" "" "" "" "" "" "-" "0000016985" "00000386" "00" "369" "0" "369" "0" "c.369C>G" "" "p.(Tyr123*)" "r.(?)" "" "" "" "" "" "-" "0000016986" "00000385" "00" "380" "0" "380" "0" "c.380T>C" "" "p.(Ile127Thr)" "r.(?)" "" "" "" "" "" "-" "0000016986" "00000386" "00" "380" "0" "380" "0" "c.380T>C" "" "p.(Ile127Thr)" "r.(?)" "" "" "" "" "" "-" "0000016987" "00000385" "00" "409" "0" "409" "0" "c.409C>T" "" "p.(Gln137*)" "r.(?)" "" "" "" "" "" "-" "0000016987" "00000386" "00" "409" "0" "409" "0" "c.409C>T" "" "p.(Gln137*)" "r.(?)" "" "" "" "" "" "-" "0000016988" "00000385" "00" "417" "0" "417" "0" "c.417G>A" "" "p.(Trp139*)" "r.(?)" "" "" "" "" "" "-" "0000016988" "00000386" "00" "417" "0" "417" "0" "c.417G>A" "" "p.(Trp139*)" "r.(?)" "" "" "" "" "" "-" "0000016989" "00000385" "00" "423" "0" "423" "0" "c.423G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016989" "00000386" "00" "423" "0" "423" "0" "c.423G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016990" "00000385" "00" "425" "0" "425" "0" "c.425C>G" "" "p.(Pro142Arg)" "r.(?)" "" "" "" "" "" "-" "0000016990" "00000386" "00" "425" "0" "425" "0" "c.425C>G" "" "p.(Pro142Arg)" "r.(?)" "" "" "" "" "" "-" "0000016991" "00000385" "00" "460" "0" "460" "0" "c.460C>T" "" "p.(Leu154Phe)" "r.(?)" "" "" "" "" "" "-" "0000016991" "00000386" "00" "460" "0" "460" "0" "c.460C>T" "" "p.(Leu154Phe)" "r.(?)" "" "" "" "" "" "-" "0000016992" "00000385" "00" "465" "0" "465" "0" "c.465C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016992" "00000386" "00" "465" "0" "465" "0" "c.465C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016993" "00000385" "00" "473" "-214" "473" "-214" "c.473-214A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016993" "00000386" "00" "473" "-2" "473" "-2" "c.473-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016994" "00000385" "00" "473" "-174" "473" "-174" "c.473-174C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016994" "00000386" "00" "511" "0" "511" "0" "c.511C>T" "" "p.(Arg171Trp)" "r.(?)" "" "" "" "" "" "-" "0000016995" "00000385" "00" "473" "-158" "473" "-158" "c.473-158C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016995" "00000386" "00" "527" "0" "527" "0" "c.527C>A" "" "p.(Ser176*)" "r.(?)" "" "" "" "" "" "-" "0000016996" "00000385" "00" "473" "-156" "473" "-156" "c.473-156T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016996" "00000386" "00" "529" "0" "529" "0" "c.529T>C" "" "p.(Trp177Arg)" "r.(?)" "" "" "" "" "" "-" "0000016997" "00000385" "00" "473" "-133" "473" "-133" "c.473-133C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016997" "00000386" "00" "552" "0" "552" "0" "c.552C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016998" "00000385" "00" "473" "-110" "473" "-110" "c.473-110C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016998" "00000386" "00" "575" "0" "575" "0" "c.575C>T" "" "p.(Ala192Val)" "r.(?)" "" "" "" "" "" "-" "0000016999" "00000385" "00" "473" "-93" "473" "-92" "c.473-93_473-92del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016999" "00000386" "00" "592" "0" "593" "0" "c.592_593del" "" "p.(Phe198Cysfs*46)" "r.(?)" "" "" "" "" "" "-" "0000017000" "00000385" "00" "473" "-53" "473" "-53" "c.473-53C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017000" "00000386" "00" "624" "8" "624" "8" "c.624+8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017001" "00000385" "00" "473" "-50" "473" "-50" "c.473-50C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017001" "00000386" "00" "624" "11" "624" "11" "c.624+11C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017002" "00000385" "00" "613" "0" "613" "0" "c.613G>A" "" "p.(Gly205Ser)" "r.(?)" "" "" "" "" "" "-" "0000017002" "00000386" "00" "625" "0" "625" "0" "c.625G>A" "" "p.(Gly209Ser)" "r.(?)" "" "" "" "" "" "-" "0000017003" "00000385" "00" "659" "0" "660" "0" "c.659_660insG" "" "p.(Lys222Glufs*19)" "r.(?)" "" "" "" "" "" "-" "0000017003" "00000386" "00" "671" "0" "672" "0" "c.671_672insG" "" "p.(Lys226Glufs*19)" "r.(?)" "" "" "" "" "" "-" "0000017004" "00000385" "00" "669" "0" "670" "0" "c.669_670del" "" "p.(Glu224Argfs*16)" "r.(?)" "" "" "" "" "" "-" "0000017004" "00000386" "00" "681" "0" "682" "0" "c.681_682del" "" "p.(Glu228Argfs*16)" "r.(?)" "" "" "" "" "" "-" "0000017005" "00000385" "00" "784" "-14" "784" "-14" "c.784-14G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017005" "00000386" "00" "796" "-14" "796" "-14" "c.796-14G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017006" "00000385" "00" "802" "0" "802" "0" "c.802C>T" "" "p.(Arg268Cys)" "r.(?)" "" "" "" "" "" "-" "0000017006" "00000386" "00" "814" "0" "814" "0" "c.814C>T" "" "p.(Arg272Cys)" "r.(?)" "" "" "" "" "" "-" "0000017007" "00000385" "00" "809" "0" "809" "0" "c.809G>A" "" "p.(Gly270Asp)" "r.(?)" "" "" "" "" "" "-" "0000017007" "00000386" "00" "821" "0" "821" "0" "c.821G>A" "" "p.(Gly274Asp)" "r.(?)" "" "" "" "" "" "-" "0000017008" "00000385" "00" "813" "0" "813" "0" "c.813C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017008" "00000386" "00" "825" "0" "825" "0" "c.825C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017009" "00000385" "00" "847" "0" "847" "0" "c.847C>T" "" "p.(Leu283Phe)" "r.(?)" "" "" "" "" "" "-" "0000017009" "00000386" "00" "859" "0" "859" "0" "c.859C>T" "" "p.(Leu287Phe)" "r.(?)" "" "" "" "" "" "-" "0000017010" "00000385" "00" "856" "0" "856" "0" "c.856G>C" "" "p.(Ala286Pro)" "r.(?)" "" "" "" "" "" "-" "0000017010" "00000386" "00" "868" "0" "868" "0" "c.868G>C" "" "p.(Ala290Pro)" "r.(?)" "" "" "" "" "" "-" "0000017011" "00000385" "00" "894" "0" "895" "0" "c.894_895insC" "" "p.(Leu300Profs*34)" "r.(?)" "" "" "" "" "" "-" "0000017011" "00000386" "00" "906" "0" "907" "0" "c.906_907insC" "" "p.(Leu304Profs*34)" "r.(?)" "" "" "" "" "" "-" "0000017012" "00000385" "00" "961" "0" "961" "0" "c.961C>T" "" "p.(Arg321Trp)" "r.(?)" "" "" "" "" "" "-" "0000017012" "00000386" "00" "973" "0" "973" "0" "c.973C>T" "" "p.(Arg325Trp)" "r.(?)" "" "" "" "" "" "-" "0000017013" "00000385" "00" "978" "0" "978" "0" "c.978C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017013" "00000386" "00" "990" "0" "990" "0" "c.990C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017014" "00000385" "00" "1017" "1" "1017" "1" "c.1017+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017014" "00000386" "00" "1029" "1" "1029" "1" "c.1029+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017015" "00000385" "00" "1019" "0" "1019" "0" "c.1019del" "" "p.(Glu340Glyfs*30)" "r.(?)" "" "" "" "" "" "-" "0000017015" "00000386" "00" "1031" "0" "1031" "0" "c.1031del" "" "p.(Glu344Glyfs*30)" "r.(?)" "" "" "" "" "" "-" "0000017016" "00000385" "00" "1019" "0" "1019" "0" "c.1019A>G" "" "p.(Glu340Gly)" "r.(?)" "" "" "" "" "" "-" "0000017016" "00000386" "00" "1031" "0" "1031" "0" "c.1031A>G" "" "p.(Glu344Gly)" "r.(?)" "" "" "" "" "" "-" "0000017017" "00000385" "00" "1046" "0" "1046" "0" "c.1046C>T" "" "p.(Ser349Leu)" "r.(?)" "" "" "" "" "" "-" "0000017017" "00000386" "00" "1058" "0" "1058" "0" "c.1058C>T" "" "p.(Ser353Leu)" "r.(?)" "" "" "" "" "" "-" "0000017018" "00000385" "00" "1072" "0" "1072" "0" "c.1072C>T" "" "p.(Gln358*)" "r.(?)" "" "" "" "" "" "-" "0000017018" "00000386" "00" "1084" "0" "1084" "0" "c.1084C>T" "" "p.(Gln362*)" "r.(?)" "" "" "" "" "" "-" "0000017019" "00000385" "00" "1072" "0" "1072" "0" "c.1072C>G" "" "p.(Gln358Glu)" "r.(?)" "" "" "" "" "" "-" "0000017019" "00000386" "00" "1084" "0" "1084" "0" "c.1084C>G" "" "p.(Gln362Glu)" "r.(?)" "" "" "" "" "" "-" "0000017020" "00000385" "00" "1083" "0" "1083" "0" "c.1083G>T" "" "p.(Gln361His)" "r.(?)" "" "" "" "" "" "-" "0000017020" "00000386" "00" "1095" "0" "1095" "0" "c.1095G>T" "" "p.(Gln365His)" "r.(?)" "" "" "" "" "" "-" "0000017021" "00000385" "00" "1090" "0" "1090" "0" "c.1090G>A" "" "p.(Gly364Ser)" "r.(?)" "" "" "" "" "" "-" "0000017021" "00000386" "00" "1102" "0" "1102" "0" "c.1102G>A" "" "p.(Gly368Ser)" "r.(?)" "" "" "" "" "" "-" "0000017022" "00000385" "00" "1092" "0" "1092" "0" "c.1092C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017022" "00000386" "00" "1104" "0" "1104" "0" "c.1104C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017023" "00000385" "00" "1096" "0" "1096" "0" "c.1096A>G" "" "p.(Met366Val)" "r.(?)" "" "" "" "" "" "-" "0000017023" "00000386" "00" "1108" "0" "1108" "0" "c.1108A>G" "" "p.(Met370Val)" "r.(?)" "" "" "" "" "" "-" "0000017024" "00000385" "00" "1118" "0" "1118" "0" "c.1118C>T" "" "p.(Pro373Leu)" "r.(?)" "" "" "" "" "" "-" "0000017024" "00000386" "00" "1130" "0" "1130" "0" "c.1130C>T" "" "p.(Pro377Leu)" "r.(?)" "" "" "" "" "" "-" "0000017025" "00000385" "00" "1126" "0" "1126" "0" "c.1126C>T" "" "p.(Arg376Trp)" "r.(?)" "" "" "" "" "" "-" "0000017025" "00000386" "00" "1138" "0" "1138" "0" "c.1138C>T" "" "p.(Arg380Trp)" "r.(?)" "" "" "" "" "" "-" "0000017026" "00000385" "00" "1135" "0" "1135" "0" "c.1135C>T" "" "p.(Arg379Cys)" "r.(?)" "" "" "" "" "" "-" "0000017026" "00000386" "00" "1147" "0" "1147" "0" "c.1147C>T" "" "p.(Arg383Cys)" "r.(?)" "" "" "" "" "" "-" "0000017027" "00000385" "00" "1144" "0" "1144" "0" "c.1144C>T" "" "p.(Arg382Cys)" "r.(?)" "" "" "" "" "" "-" "0000017027" "00000386" "00" "1156" "0" "1156" "0" "c.1156C>T" "" "p.(Arg386Cys)" "r.(?)" "" "" "" "" "" "-" "0000017028" "00000385" "00" "1152" "0" "1153" "0" "c.1152_1153del" "" "p.(Glu385Aspfs*101)" "r.(?)" "" "" "" "" "" "-" "0000017028" "00000386" "00" "1164" "0" "1165" "0" "c.1164_1165del" "" "p.(Glu389Aspfs*101)" "r.(?)" "" "" "" "" "" "-" "0000017029" "00000385" "00" "1180" "0" "1180" "0" "c.1180C>T" "" "p.(Gln394*)" "r.(?)" "" "" "" "" "" "-" "0000017029" "00000386" "00" "1192" "0" "1192" "0" "c.1192C>T" "" "p.(Gln398*)" "r.(?)" "" "" "" "" "" "-" "0000017030" "00000385" "00" "1186" "0" "1186" "0" "c.1186C>G" "" "p.(Leu396Val)" "r.(?)" "" "" "" "" "" "-" "0000017030" "00000386" "00" "1198" "0" "1198" "0" "c.1198C>G" "" "p.(Leu400Val)" "r.(?)" "" "" "" "" "" "-" "0000017031" "00000385" "00" "1231" "0" "1231" "0" "c.*4C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017031" "00000386" "00" "1243" "0" "1243" "0" "c.*4C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017032" "00000385" "00" "1232" "0" "1232" "0" "c.*5G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017032" "00000386" "00" "1244" "0" "1244" "0" "c.*5G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017033" "00000385" "00" "1248" "0" "1248" "0" "c.*21G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017033" "00000386" "00" "1260" "0" "1260" "0" "c.*21G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017034" "00000385" "00" "1254" "0" "1254" "0" "c.*27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017034" "00000386" "00" "1266" "0" "1266" "0" "c.*27C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017035" "00000385" "00" "1318" "0" "1318" "0" "c.*91G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017035" "00000386" "00" "1330" "0" "1330" "0" "c.*91G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017036" "00000385" "00" "1342" "0" "1342" "0" "c.*115G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017036" "00000386" "00" "1354" "0" "1354" "0" "c.*115G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017037" "00000385" "00" "1401" "0" "1401" "0" "c.*174G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017037" "00000386" "00" "1413" "0" "1413" "0" "c.*174G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017038" "00000385" "00" "1427" "0" "1427" "0" "c.*200C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017038" "00000386" "00" "1439" "0" "1439" "0" "c.*200C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017039" "00000385" "00" "1476" "0" "1476" "0" "c.*249G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017039" "00000386" "00" "1488" "0" "1488" "0" "c.*249G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017040" "00000385" "00" "1493" "0" "1493" "0" "c.*266G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017040" "00000386" "00" "1505" "0" "1505" "0" "c.*266G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017041" "00000385" "00" "1537" "0" "1537" "0" "c.*310C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017041" "00000386" "00" "1549" "0" "1549" "0" "c.*310C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017042" "00000385" "00" "1614" "0" "1614" "0" "c.*387A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017042" "00000386" "00" "1626" "0" "1626" "0" "c.*387A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017043" "00000385" "00" "1727" "0" "1727" "0" "c.*500G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017043" "00000386" "00" "1739" "0" "1739" "0" "c.*500G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017044" "00000385" "00" "1754" "0" "1754" "0" "c.*527A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017044" "00000386" "00" "1766" "0" "1766" "0" "c.*527A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024640" "00000385" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000024640" "00000386" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000024641" "00000385" "00" "28" "0" "29" "0" "c.28_29insCGGGCCC" "" "p.(Ala13Glyfs*10)" "r.(?)" "" "" "" "" "" "-" "0000024641" "00000386" "00" "28" "0" "29" "0" "c.28_29insCGGGCCC" "" "p.(Ala13Glyfs*10)" "r.(?)" "" "" "" "" "" "-" "0000024642" "00000385" "00" "47" "-6" "47" "-6" "c.47-6C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024642" "00000386" "00" "47" "-6" "47" "-6" "c.47-6C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024643" "00000385" "00" "106" "0" "107" "0" "c.106_107insA" "" "p.(Thr37Aspfs*26)" "r.(?)" "" "" "" "" "" "-" "0000024643" "00000386" "00" "106" "0" "107" "0" "c.106_107insA" "" "p.(Thr37Aspfs*26)" "r.(?)" "" "" "" "" "" "-" "0000024644" "00000385" "00" "277" "0" "277" "0" "c.277C>A" "" "p.(Leu93Ile)" "r.(?)" "" "" "" "" "" "-" "0000024644" "00000386" "00" "277" "0" "277" "0" "c.277C>A" "" "p.(Leu93Ile)" "r.(?)" "" "" "" "" "" "-" "0000024645" "00000385" "00" "326" "0" "328" "0" "c.326_328del" "" "p.(Cys109_Ala110delinsSer)" "r.(?)" "" "" "" "" "" "-" "0000024645" "00000386" "00" "326" "0" "328" "0" "c.326_328del" "" "p.(Cys109_Ala110delinsSer)" "r.(?)" "" "" "" "" "" "-" "0000024646" "00000385" "00" "328" "0" "328" "0" "c.328G>A" "" "p.(Ala110Thr)" "r.(?)" "" "" "" "" "" "-" "0000024646" "00000386" "00" "328" "0" "328" "0" "c.328G>A" "" "p.(Ala110Thr)" "r.(?)" "" "" "" "" "" "-" "0000024647" "00000385" "00" "431" "0" "431" "0" "c.431C>T" "" "p.(Thr144Ile)" "r.(?)" "" "" "" "" "" "-" "0000024647" "00000386" "00" "431" "0" "431" "0" "c.431C>T" "" "p.(Thr144Ile)" "r.(?)" "" "" "" "" "" "-" "0000024648" "00000385" "00" "459" "0" "460" "0" "c.459_460insCAA" "" "p.(Ala153_Leu154insGln)" "r.(?)" "" "" "" "" "" "-" "0000024648" "00000386" "00" "459" "0" "460" "0" "c.459_460insCAA" "" "p.(Ala153_Leu154insGln)" "r.(?)" "" "" "" "" "" "-" "0000024649" "00000385" "00" "461" "0" "461" "0" "c.461T>G" "" "p.(Leu154Arg)" "r.(?)" "" "" "" "" "" "-" "0000024649" "00000386" "00" "461" "0" "461" "0" "c.461T>G" "" "p.(Leu154Arg)" "r.(?)" "" "" "" "" "" "-" "0000024650" "00000385" "00" "461" "0" "462" "0" "c.461_462insCAG" "" "p.(Ser155dup)" "r.(?)" "" "" "" "" "" "-" "0000024650" "00000386" "00" "461" "0" "462" "0" "c.461_462insCAG" "" "p.(Ser155dup)" "r.(?)" "" "" "" "" "" "-" "0000024651" "00000385" "00" "473" "-180" "473" "-180" "c.473-180A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024651" "00000386" "00" "505" "0" "505" "0" "c.505A>C" "" "p.(Thr169Pro)" "r.(?)" "" "" "" "" "" "-" "0000024652" "00000385" "00" "473" "-89" "473" "-89" "c.473-89C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024652" "00000386" "00" "596" "0" "596" "0" "c.596C>T" "" "p.(Ala199Val)" "r.(?)" "" "" "" "" "" "-" "0000024653" "00000385" "00" "670" "0" "670" "0" "c.670G>A" "" "p.(Glu224Lys)" "r.(?)" "" "" "" "" "" "-" "0000024653" "00000386" "00" "682" "0" "682" "0" "c.682G>A" "" "p.(Glu228Lys)" "r.(?)" "" "" "" "" "" "-" "0000024654" "00000385" "00" "688" "0" "688" "0" "c.688C>T" "" "p.(Arg230Trp)" "r.(?)" "" "" "" "" "" "-" "0000024654" "00000386" "00" "700" "0" "700" "0" "c.700C>T" "" "p.(Arg234Trp)" "r.(?)" "" "" "" "" "" "-" "0000024655" "00000385" "00" "803" "0" "803" "0" "c.803G>A" "" "p.(Arg268His)" "r.(?)" "" "" "" "" "" "-" "0000024655" "00000386" "00" "815" "0" "815" "0" "c.815G>A" "" "p.(Arg272His)" "r.(?)" "" "" "" "" "" "-" "0000024656" "00000385" "00" "808" "0" "808" "0" "c.808G>A" "" "p.(Gly270Ser)" "r.(?)" "" "" "" "" "" "-" "0000024656" "00000386" "00" "820" "0" "820" "0" "c.820G>A" "" "p.(Gly274Ser)" "r.(?)" "" "" "" "" "" "-" "0000024657" "00000385" "00" "814" "0" "814" "0" "c.814G>A" "" "p.(Ala272Thr)" "r.(?)" "" "" "" "" "" "-" "0000024657" "00000386" "00" "826" "0" "826" "0" "c.826G>A" "" "p.(Ala276Thr)" "r.(?)" "" "" "" "" "" "-" "0000024658" "00000385" "00" "830" "0" "830" "0" "c.830G>C" "" "p.(Gly277Ala)" "r.(?)" "" "" "" "" "" "-" "0000024658" "00000386" "00" "842" "0" "842" "0" "c.842G>C" "" "p.(Gly281Ala)" "r.(?)" "" "" "" "" "" "-" "0000024659" "00000385" "00" "929" "0" "937" "0" "c.929_937del" "" "p.(Asp312_Ala314del)" "r.(?)" "" "" "" "" "" "-" "0000024659" "00000386" "00" "941" "0" "949" "0" "c.941_949del" "" "p.(Asp316_Ala318del)" "r.(?)" "" "" "" "" "" "-" "0000024660" "00000385" "00" "935" "0" "936" "0" "c.935_936insCATGGC" "" "p.(Met313_Ala314dup)" "r.(?)" "" "" "" "" "" "-" "0000024660" "00000386" "00" "947" "0" "948" "0" "c.947_948insCATGGC" "" "p.(Met317_Ala318dup)" "r.(?)" "" "" "" "" "" "-" "0000024661" "00000385" "00" "962" "0" "962" "0" "c.962G>A" "" "p.(Arg321Gln)" "r.(?)" "" "" "" "" "" "-" "0000024661" "00000386" "00" "974" "0" "974" "0" "c.974G>A" "" "p.(Arg325Gln)" "r.(?)" "" "" "" "" "" "-" "0000024662" "00000385" "00" "969" "0" "971" "0" "c.969_971del" "" "p.(Thr324del)" "r.(?)" "" "" "" "" "" "-" "0000024662" "00000386" "00" "981" "0" "983" "0" "c.981_983del" "" "p.(Thr328del)" "r.(?)" "" "" "" "" "" "-" "0000024663" "00000385" "00" "976" "0" "976" "0" "c.976C>T" "" "p.(Arg326Cys)" "r.(?)" "" "" "" "" "" "-" "0000024663" "00000386" "00" "988" "0" "988" "0" "c.988C>T" "" "p.(Arg330Cys)" "r.(?)" "" "" "" "" "" "-" "0000024664" "00000385" "00" "977" "0" "977" "0" "c.977G>A" "" "p.(Arg326His)" "r.(?)" "" "" "" "" "" "-" "0000024664" "00000386" "00" "989" "0" "989" "0" "c.989G>A" "" "p.(Arg330His)" "r.(?)" "" "" "" "" "" "-" "0000024665" "00000385" "00" "979" "0" "979" "0" "c.979G>A" "" "p.(Ala327Thr)" "r.(?)" "" "" "" "" "" "-" "0000024665" "00000386" "00" "991" "0" "991" "0" "c.991G>A" "" "p.(Ala331Thr)" "r.(?)" "" "" "" "" "" "-" "0000024666" "00000385" "00" "983" "0" "983" "0" "c.983C>T" "" "p.(Ala328Val)" "r.(?)" "" "" "" "" "" "-" "0000024666" "00000386" "00" "995" "0" "995" "0" "c.995C>T" "" "p.(Ala332Val)" "r.(?)" "" "" "" "" "" "-" "0000024667" "00000385" "00" "1018" "-1" "1018" "-1" "c.1018-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024667" "00000386" "00" "1030" "-1" "1030" "-1" "c.1030-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024668" "00000385" "00" "1042" "0" "1042" "0" "c.1042G>A" "" "p.(Ala348Thr)" "r.(?)" "" "" "" "" "" "-" "0000024668" "00000386" "00" "1054" "0" "1054" "0" "c.1054G>A" "" "p.(Ala352Thr)" "r.(?)" "" "" "" "" "" "-" "0000024669" "00000385" "00" "1045" "0" "1045" "0" "c.1045T>C" "" "p.(Ser349Pro)" "r.(?)" "" "" "" "" "" "-" "0000024669" "00000386" "00" "1057" "0" "1057" "0" "c.1057T>C" "" "p.(Ser353Pro)" "r.(?)" "" "" "" "" "" "-" "0000024670" "00000385" "00" "1052" "0" "1052" "0" "c.1052C>T" "" "p.(Ala351Val)" "r.(?)" "" "" "" "" "" "-" "0000024670" "00000386" "00" "1064" "0" "1064" "0" "c.1064C>T" "" "p.(Ala355Val)" "r.(?)" "" "" "" "" "" "-" "0000024671" "00000385" "00" "1054" "0" "1054" "0" "c.1054G>A" "" "p.(Ala352Thr)" "r.(?)" "" "" "" "" "" "-" "0000024671" "00000386" "00" "1066" "0" "1066" "0" "c.1066G>A" "" "p.(Ala356Thr)" "r.(?)" "" "" "" "" "" "-" "0000024672" "00000385" "00" "1074" "0" "1074" "0" "c.1074del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024672" "00000386" "00" "1086" "0" "1086" "0" "c.1086del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024673" "00000385" "00" "1074" "1" "1074" "1" "c.1074+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024673" "00000386" "00" "1086" "1" "1086" "1" "c.1086+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024674" "00000385" "00" "1074" "1" "1074" "1" "c.1074+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024674" "00000386" "00" "1086" "1" "1086" "1" "c.1086+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024675" "00000385" "00" "1100" "0" "1100" "0" "c.1100G>T" "" "p.(Gly367Val)" "r.(?)" "" "" "" "" "" "-" "0000024675" "00000386" "00" "1112" "0" "1112" "0" "c.1112G>T" "" "p.(Gly371Val)" "r.(?)" "" "" "" "" "" "-" "0000024676" "00000385" "00" "1134" "0" "1134" "0" "c.1134C>A" "" "p.(Tyr378*)" "r.(?)" "" "" "" "" "" "-" "0000024676" "00000386" "00" "1146" "0" "1146" "0" "c.1146C>A" "" "p.(Tyr382*)" "r.(?)" "" "" "" "" "" "-" "0000024677" "00000385" "00" "1136" "0" "1136" "0" "c.1136G>A" "" "p.(Arg379His)" "r.(?)" "" "" "" "" "" "-" "0000024677" "00000386" "00" "1148" "0" "1148" "0" "c.1148G>A" "" "p.(Arg383His)" "r.(?)" "" "" "" "" "" "-" "0000024678" "00000385" "00" "1141" "0" "1141" "0" "c.1141G>T" "" "p.(Ala381Ser)" "r.(?)" "" "" "" "" "" "-" "0000024678" "00000386" "00" "1153" "0" "1153" "0" "c.1153G>T" "" "p.(Ala385Ser)" "r.(?)" "" "" "" "" "" "-" "0000024679" "00000385" "00" "1169" "0" "1169" "0" "c.1169del" "" "p.(Ser391Alafs*7)" "r.(?)" "" "" "" "" "" "-" "0000024679" "00000386" "00" "1181" "0" "1181" "0" "c.1181del" "" "p.(Ser395Alafs*7)" "r.(?)" "" "" "" "" "" "-" "0000024680" "00000385" "00" "1201" "0" "1201" "0" "c.1201del" "" "p.(His401Ilefs*60)" "r.(?)" "" "" "" "" "" "-" "0000024680" "00000386" "00" "1213" "0" "1213" "0" "c.1213del" "" "p.(His405Ilefs*60)" "r.(?)" "" "" "" "" "" "-" "0000024681" "00000385" "00" "1219" "0" "1219" "0" "c.1219C>T" "" "p.(Arg407Trp)" "r.(?)" "" "" "" "" "" "-" "0000024681" "00000386" "00" "1231" "0" "1231" "0" "c.1231C>T" "" "p.(Arg411Trp)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0