### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACAT1) # 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}}" "ACAT1" "acetyl-CoA acetyltransferase 1" "11" "q22.3" "unknown" "NC_000011.9" "UD_132085231237" "" "" "" "1" "1" "93" "38" "607809" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000392" "ACAT1" "acetyl-CoA acetyltransferase 1" "001" "NM_000019.3" "" "NP_000010.1" "" "" "" "-76" "2062" "1284" "107992258" "108018895" "00001" "2013-11-12 21:26:40" "" "" "" "11" ## 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}}" "00402" "203750" "ALPHA-METHYLACETOACETIC ACIDURIA" "203750" "" "" "" "00001" "2014-04-08 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ACAT1" "00402" ## 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 = 95 "{{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}}" "0000000449" "0" "99" "11" "107992335" "107992335" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-28 10:58:46" "ACAT1_000012" "g.107992335T>A" "" "{PMID:4690360:4690360};{PMID:8103405:8103405}" "" "rs120074142" "subst" "0" "; clinVar; Ensembl;" "3.420" "" "" "" "" "MSCV_0000449" "" "0000000450" "0" "99" "11" "108004987" "108004987" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 14:13:43" "ACAT1_000001" "g.108004987A>G" "" "{PMID:9744475:9744475}" "" "rs120074145" "subst" "0" "; clinVar; Ensembl;" "5.730" "" "" "" "" "MSCV_0000450" "" "0000000451" "0" "99" "11" "108005967" "108005967" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-13 22:26:37" "ACAT1_000002" "g.108005967C>G" "" "{PMID:11914035:11914035}" "" "rs120074148" "subst" "0" "; clinVar; Ensembl;" "5.660" "" "" "" "" "MSCV_0000451" "" "0000000452" "0" "99" "11" "108009736" "108009736" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-07-30 23:17:34" "ACAT1_000003" "g.108009736G>A" "" "{PMID:1346617:1346617};{PMID:7173255:7173255}" "" "rs120074141" "subst" "0" "; clinVar; Ensembl;" "5.740" "" "" "" "" "MSCV_0000452" "" "0000000453" "0" "99" "11" "108012415" "108012415" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-13 22:26:51" "ACAT1_000004" "g.108012415C>T" "" "{PMID:23757202:23757202};{PMID:7907600:7907600}" "" "rs120074144" "subst" "0" "; clinVar; Ensembl;" "5.120" "" "" "" "" "MSCV_0000453" "" "0000000454" "0" "99" "11" "108013272" "108013272" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-13 22:26:11" "ACAT1_000005" "g.108013272T>C" "" "{PMID:9744475:9744475}" "" "rs120074146" "subst" "0" "; clinVar; Ensembl;" "6.160" "" "" "" "" "MSCV_0000454" "" "0000000455" "0" "99" "11" "108014766" "108014766" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-13 22:26:53" "ACAT1_000006" "g.108014766G>C" "" "{PMID:9744475:9744475}" "" "rs120074147" "subst" "0" "; clinVar; Ensembl;" "5.470" "" "" "" "" "MSCV_0000455" "" "0000000456" "0" "99" "11" "108016956" "108016958" "del" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 14:13:43" "ACAT1_000007" "g.108016956_108016958del" "" "{PMID:9700610:9700610}" "" "rs387906282" "del" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000456" "" "0000000457" "0" "77" "11" "108017005" "108017006" "ins" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 14:13:43" "ACAT1_000008" "g.108017005_108017006insA" "" "{PMID:9700610:9700610}" "" "rs387906283" "ins" "0" "; clinVar;" "" "" "" "" "" "MSCV_0000457" "" "0000000458" "0" "99" "11" "108017006" "108017006" "dup" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-13 22:25:20" "ACAT1_000009" "g.108017006dup" "" "" "" "" "dup" "0" ";" "-0.644" "" "" "" "" "MSCV_0000458" "" "0000000459" "0" "99" "11" "108017059" "108017059" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-13 22:26:29" "ACAT1_000010" "g.108017059G>T" "" "{PMID:1373235:1373235};{PMID:7907600:7907600}" "" "rs120074143" "subst" "0" "; clinVar; Ensembl;" "3.900" "" "" "" "" "MSCV_0000459" "" "0000000460" "0" "99" "11" "108017061" "108017061" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-13 22:25:11" "ACAT1_000011" "g.108017061G>A" "" "{PMID:1715688:1715688}" "" "rs120074140" "subst" "0" "; clinVar; Ensembl;" "4.940" "" "" "" "" "MSCV_0000460" "" "0000001973" "0" "00" "11" "108017006" "108017007" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2015-03-13 22:22:53" "ACAT1_000013" "g.108017006_108017007insAG" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0001973" "" "0000016786" "0" "55" "11" "107992264" "107992264" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:51:02" "ACAT1_000081" "g.107992264T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016786" "" "0000016787" "0" "33" "11" "107992306" "107992306" "subst" "35" "0.00134183" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:41:37" "ACAT1_000077" "g.107992306T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016787" "" "0000016788" "0" "33" "11" "107992312" "107992312" "subst" "35" "0.12958" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:41:44" "ACAT1_000078" "g.107992312C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016788" "" "0000016789" "0" "33" "11" "107992312" "107992312" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:41:46" "ACAT1_000079" "g.107992312C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016789" "" "0000016790" "0" "33" "11" "107992319" "107992319" "subst" "35" "0.0208127" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:41:47" "ACAT1_000080" "g.107992319C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016790" "" "0000016791" "0" "11" "11" "107992325" "107992325" "subst" "51" "0.197573" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 13:13:32" "ACAT1_000059" "g.107992325T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016791" "" "0000016792" "0" "99" "11" "107992335" "107992335" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:47" "ACAT1_000012" "g.107992335T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000449" "" "0000016793" "0" "11" "11" "107992346" "107992346" "subst" "35" "0.209707" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:49" "ACAT1_000060" "g.107992346G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016793" "" "0000016794" "0" "55" "11" "107992348" "107992348" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:51" "ACAT1_000061" "g.107992348G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016794" "" "0000016795" "0" "55" "11" "107992362" "107992362" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:53" "ACAT1_000062" "g.107992362G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016795" "" "0000016796" "0" "99" "11" "108004575" "108004575" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:55" "ACAT1_000063" "g.108004575del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016796" "" "0000016797" "0" "77" "11" "108004629" "108004629" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:07" "ACAT1_000039" "g.108004629G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016797" "" "0000016798" "0" "99" "11" "108004987" "108004987" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:10" "ACAT1_000001" "g.108004987A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000450" "" "0000016799" "0" "55" "11" "108005000" "108005000" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:12" "ACAT1_000040" "g.108005000A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016799" "" "0000016800" "0" "99" "11" "108005967" "108005967" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:16" "ACAT1_000002" "g.108005967C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000451" "" "0000016801" "0" "77" "11" "108009621" "108009621" "subst" "35" "0.000384675" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:18" "ACAT1_000041" "g.108009621G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016801" "" "0000016802" "0" "99" "11" "108009633" "108009634" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:20" "ACAT1_000042" "g.108009633_108009634del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016802" "" "0000016803" "0" "77" "11" "108009644" "108009644" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:23" "ACAT1_000043" "g.108009644G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016803" "" "0000016804" "0" "33" "11" "108009660" "108009660" "subst" "35" "0.181797" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:25" "ACAT1_000044" "g.108009660C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016804" "" "0000016805" "0" "99" "11" "108009661" "108009661" "subst" "35" "0.0000769349" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:28" "ACAT1_000045" "g.108009661A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016805" "" "0000016806" "0" "99" "11" "108009662" "108009662" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 14:13:43" "ACAT1_000046" "g.108009662A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016806" "" "0000016807" "0" "55" "11" "108009721" "108009721" "subst" "35" "0.0000769349" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:33" "ACAT1_000047" "g.108009721T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016807" "" "0000016808" "0" "99" "11" "108009736" "108009736" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:36" "ACAT1_000003" "g.108009736G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000452" "" "0000016809" "0" "55" "11" "108010835" "108010835" "subst" "35" "0.0000769349" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:39" "ACAT1_000048" "g.108010835G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016809" "" "0000016810" "0" "77" "11" "108010865" "108010865" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:41" "ACAT1_000049" "g.108010865C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016810" "" "0000016811" "0" "99" "11" "108010944" "108010944" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:44" "ACAT1_000050" "g.108010944T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016811" "" "0000016812" "0" "55" "11" "108012366" "108012366" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 14:13:43" "ACAT1_000051" "g.108012366A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016812" "" "0000016813" "0" "55" "11" "108012367" "108012367" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:49" "ACAT1_000052" "g.108012367T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016813" "" "0000016814" "0" "55" "11" "108012371" "108012371" "subst" "35" "0.0000769349" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:52" "ACAT1_000053" "g.108012371A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016814" "" "0000016815" "0" "99" "11" "108012415" "108012415" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:54" "ACAT1_000004" "g.108012415C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000453" "" "0000016816" "0" "99" "11" "108012428" "108012428" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:57" "ACAT1_000054" "g.108012428G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016816" "" "0000016817" "0" "55" "11" "108013240" "108013240" "subst" "35" "0.00376981" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:59" "ACAT1_000055" "g.108013240G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016817" "" "0000016818" "0" "99" "11" "108013241" "108013241" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:02" "ACAT1_000056" "g.108013241del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016818" "" "0000016819" "0" "99" "11" "108013272" "108013272" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:04" "ACAT1_000005" "g.108013272T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000454" "" "0000016820" "0" "55" "11" "108014696" "108014697" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:07" "ACAT1_000057" "g.108014696_108014697insCT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016820" "" "0000016821" "0" "55" "11" "108014736" "108014736" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:09" "ACAT1_000058" "g.108014736A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016821" "" "0000016822" "0" "33" "11" "108014747" "108014747" "subst" "51" "0.0099246" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 14:13:43" "ACAT1_000064" "g.108014747A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016822" "" "0000016823" "0" "55" "11" "108014748" "108014748" "subst" "35" "0.000384675" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-27 04:35:16" "ACAT1_000065" "g.108014748A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016823" "" "0000016824" "0" "99" "11" "108014766" "108014766" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:01" "ACAT1_000006" "g.108014766G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000455" "" "0000016825" "0" "55" "11" "108016919" "108016919" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:03" "ACAT1_000066" "g.108016919A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016825" "" "0000016826" "0" "99" "11" "108016925" "108016928" "delins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 14:13:43" "ACAT1_000067" "g.108016925_108016928delinsAAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016826" "" "0000016827" "0" "99" "11" "108016927" "108016927" "subst" "35" "0.0000769468" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:07" "ACAT1_000068" "g.108016927A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016827" "" "0000016828" "0" "99" "11" "108016928" "108016928" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:08" "ACAT1_000069" "g.108016928G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016828" "" "0000016829" "0" "00" "11" "108016954" "108016956" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:14" "ACAT1_000070" "g.108016954_108016956del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016829" "" "0000016830" "0" "55" "11" "108016991" "108016991" "subst" "35" "0.00346207" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:17" "ACAT1_000071" "g.108016991T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016830" "" "0000016831" "0" "99" "11" "108017005" "108017006" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-06 04:48:16" "ACAT1_000008" "g.108017005_108017006insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000457" "" "0000016832" "0" "99" "11" "108017059" "108017059" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:20" "ACAT1_000010" "g.108017059G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000459" "" "0000016833" "0" "99" "11" "108017061" "108017061" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:22" "ACAT1_000011" "g.108017061G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000460" "" "0000016834" "0" "99" "11" "108017088" "108017088" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:23" "ACAT1_000014" "g.108017088T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016834" "" "0000016835" "0" "55" "11" "108018031" "108018031" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:24" "ACAT1_000015" "g.108018031C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016835" "" "0000016836" "0" "77" "11" "108018032" "108018032" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:25" "ACAT1_000016" "g.108018032A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016836" "" "0000016837" "0" "55" "11" "108018050" "108018050" "subst" "35" "0.000384675" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:37" "ACAT1_000017" "g.108018050A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016837" "" "0000016838" "0" "55" "11" "108018055" "108018055" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:39" "ACAT1_000018" "g.108018055G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016838" "" "0000016839" "0" "55" "11" "108018062" "108018062" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:40" "ACAT1_000019" "g.108018062C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016839" "" "0000016840" "0" "00" "11" "108018121" "108018122" "ins" "35" "0.0154977" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:42" "ACAT1_000020" "g.108018121_108018122insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016840" "" "0000016841" "0" "55" "11" "108018172" "108018172" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:43" "ACAT1_000021" "g.108018172T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016841" "" "0000016842" "0" "00" "11" "108018218" "108018219" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:44" "ACAT1_000022" "g.108018218_108018219insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016842" "" "0000016843" "0" "00" "11" "108018237" "108018238" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:46" "ACAT1_000023" "g.108018237_108018238insTTAAC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016843" "" "0000016844" "0" "33" "11" "108018296" "108018296" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 14:13:43" "ACAT1_000024" "g.108018296T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016844" "" "0000016845" "0" "55" "11" "108018331" "108018331" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:48" "ACAT1_000025" "g.108018331G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016845" "" "0000016846" "0" "00" "11" "108018350" "108018351" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:49" "ACAT1_000026" "g.108018350_108018351del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016846" "" "0000016847" "0" "33" "11" "108018367" "108018367" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:51" "ACAT1_000027" "g.108018367C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016847" "" "0000016848" "0" "33" "11" "108018375" "108018375" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:52" "ACAT1_000028" "g.108018375G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016848" "" "0000016849" "0" "55" "11" "108018408" "108018408" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:54" "ACAT1_000029" "g.108018408A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016849" "" "0000016850" "0" "33" "11" "108018410" "108018410" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:55" "ACAT1_000030" "g.108018410A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016850" "" "0000016851" "0" "55" "11" "108018461" "108018461" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:49:56" "ACAT1_000031" "g.108018461T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016851" "" "0000016852" "0" "55" "11" "108018510" "108018510" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-01 04:12:36" "ACAT1_000032" "g.108018510A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016852" "" "0000016853" "0" "55" "11" "108018581" "108018581" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-11 11:06:38" "ACAT1_000033" "g.108018581A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016853" "" "0000016854" "0" "00" "11" "108018582" "108018583" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:50:00" "ACAT1_000034" "g.108018582_108018583insAATC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016854" "" "0000016855" "0" "33" "11" "108018624" "108018624" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:50:01" "ACAT1_000035" "g.108018624G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016855" "" "0000016856" "0" "55" "11" "108018670" "108018670" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-01 04:12:36" "ACAT1_000036" "g.108018670T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016856" "" "0000016857" "0" "33" "11" "108018672" "108018672" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:50:04" "ACAT1_000037" "g.108018672A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016857" "" "0000016858" "0" "55" "11" "108018708" "108018708" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 20:50:06" "ACAT1_000038" "g.108018708A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016858" "" "0000016859" "0" "11" "11" "108018716" "108018716" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-11-22 02:30:35" "ACAT1_000072" "g.108018716A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016859" "" "0000016860" "0" "55" "11" "108018792" "108018792" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:25" "ACAT1_000073" "g.108018792A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016860" "" "0000016861" "0" "55" "11" "108018820" "108018820" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:26" "ACAT1_000074" "g.108018820T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016861" "" "0000016862" "0" "55" "11" "108018870" "108018870" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:28" "ACAT1_000075" "g.108018870C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016862" "" "0000016863" "0" "11" "11" "108018894" "108018897" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:30" "ACAT1_000076" "g.108018894_108018897del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016863" "" "0000024166" "0" "00" "11" "107992380" "107992381" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:38:52" "ACAT1_000084" "g.107992380_107992381insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024167" "0" "00" "11" "108010834" "108010834" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:38:57" "ACAT1_000085" "g.108010834C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024168" "0" "00" "11" "108016966" "108016966" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:40:40" "ACAT1_000082" "g.108016966del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024169" "0" "00" "11" "108017083" "108017083" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:40:47" "ACAT1_000083" "g.108017083T>C" "" "" "" "" "" "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 = 95 "{{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}}" "0000000449" "00000392" "99" "2" "0" "2" "0" "c.2T>A" "1/12" "p.?" "r.?" "probably_damaging(0.921)" "" "initiator_codon_variant" "" "" "deleterious(0)" "0000000450" "00000392" "99" "278" "0" "278" "0" "c.278A>G" "4/12" "p.(Asn93Ser)" "r.(?)" "benign(0.18)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000451" "00000392" "99" "433" "0" "433" "0" "c.433C>G" "5/12" "p.(Gln145Glu)" "r.(?)" "possibly_damaging(0.895)" "" "missense_variant,splice_region_variant" "" "" "tolerated(0.49)" "0000000452" "00000392" "99" "547" "0" "547" "0" "c.547G>A" "6/12" "p.(Gly183Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000453" "00000392" "99" "814" "0" "814" "0" "c.814C>T" "8/12" "p.(Gln272*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000454" "00000392" "99" "935" "0" "935" "0" "c.935T>C" "9/12" "p.(Ile312Thr)" "r.(?)" "probably_damaging(0.946)" "" "missense_variant" "" "" "deleterious(0)" "0000000455" "00000392" "99" "997" "0" "997" "0" "c.997G>C" "10/12" "p.(Ala333Pro)" "r.(?)" "benign(0.226)" "" "missense_variant" "" "" "deleterious(0)" "0000000456" "00000392" "99" "1033" "0" "1035" "0" "c.1033_1035del" "" "p.(Glu345del)" "r.(?)" "" "" "" "" "" "-" "0000000457" "00000392" "77" "1082" "0" "1083" "0" "c.1082_1083insA" "11/12" "p.(Ala362Serfs*4)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000000458" "00000392" "55" "1083" "0" "1083" "0" "c.1083dup" "" "p.(Ala362Serfs*4)" "r.(?)" "" "" "" "" "" "-" "0000000459" "00000392" "99" "1136" "0" "1136" "0" "c.1136G>T" "11/12" "p.(Gly379Val)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000460" "00000392" "99" "1138" "0" "1138" "0" "c.1138G>A" "11/12" "p.(Ala380Thr)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000001973" "00000392" "00" "1083" "0" "1084" "0" "c.1083_1084insAG" "11/12" "p.(Ala362Argfs*14)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000016786" "00000392" "00" "-70" "0" "-70" "0" "c.-70T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016787" "00000392" "00" "-28" "0" "-28" "0" "c.-28T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016788" "00000392" "00" "-22" "0" "-22" "0" "c.-22C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016789" "00000392" "00" "-22" "0" "-22" "0" "c.-22C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016790" "00000392" "00" "-15" "0" "-15" "0" "c.-15C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016791" "00000392" "00" "-9" "0" "-9" "0" "c.-9T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016792" "00000392" "00" "2" "0" "2" "0" "c.2T>A" "" "p.?" "r.?" "" "" "" "" "" "-" "0000016793" "00000392" "00" "13" "0" "13" "0" "c.13G>C" "" "p.(Ala5Pro)" "r.(?)" "" "" "" "" "" "-" "0000016794" "00000392" "00" "15" "0" "15" "0" "c.15G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016795" "00000392" "00" "29" "0" "29" "0" "c.29G>A" "" "p.(Ser10Asn)" "r.(?)" "" "" "" "" "" "-" "0000016796" "00000392" "00" "149" "0" "149" "0" "c.149del" "" "p.(Thr50Asnfs*7)" "r.(?)" "" "" "" "" "" "-" "0000016797" "00000392" "00" "203" "0" "203" "0" "c.203G>T" "" "p.(Gly68Val)" "r.(?)" "" "" "" "" "" "-" "0000016798" "00000392" "00" "278" "0" "278" "0" "c.278A>G" "" "p.(Asn93Ser)" "r.(?)" "" "" "" "" "" "-" "0000016799" "00000392" "00" "291" "0" "291" "0" "c.291A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016800" "00000392" "00" "433" "0" "433" "0" "c.433C>G" "" "p.(Gln145Glu)" "r.(?)" "" "" "" "" "" "-" "0000016801" "00000392" "00" "436" "-4" "436" "-4" "c.436-4G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016802" "00000392" "00" "444" "0" "445" "0" "c.444_445del" "" "p.(Met148Ilefs*28)" "r.(?)" "" "" "" "" "" "-" "0000016803" "00000392" "00" "455" "0" "455" "0" "c.455G>C" "" "p.(Gly152Ala)" "r.(?)" "" "" "" "" "" "-" "0000016804" "00000392" "00" "471" "0" "471" "0" "c.471C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016805" "00000392" "00" "472" "0" "472" "0" "c.472A>G" "" "p.(Asn158Asp)" "r.(?)" "" "" "" "" "" "-" "0000016806" "00000392" "00" "473" "0" "473" "0" "c.473A>G" "" "p.(Asn158Ser)" "r.(?)" "" "" "" "" "" "-" "0000016807" "00000392" "00" "532" "0" "532" "0" "c.532T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016808" "00000392" "00" "547" "0" "547" "0" "c.547G>A" "" "p.(Gly183Arg)" "r.(?)" "" "" "" "" "" "-" "0000016809" "00000392" "00" "623" "0" "623" "0" "c.623G>A" "" "p.(Arg208Gln)" "r.(?)" "" "" "" "" "" "-" "0000016810" "00000392" "00" "653" "0" "653" "0" "c.653C>T" "" "p.(Ser218Phe)" "r.(?)" "" "" "" "" "" "-" "0000016811" "00000392" "00" "730" "2" "730" "2" "c.730+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016812" "00000392" "00" "765" "0" "765" "0" "c.765A>T" "" "p.(Glu255Asp)" "r.(?)" "" "" "" "" "" "-" "0000016813" "00000392" "00" "766" "0" "766" "0" "c.766T>A" "" "p.(Tyr256Asn)" "r.(?)" "" "" "" "" "" "-" "0000016814" "00000392" "00" "770" "0" "770" "0" "c.770A>C" "" "p.(Lys257Thr)" "r.(?)" "" "" "" "" "" "-" "0000016815" "00000392" "00" "814" "0" "814" "0" "c.814C>T" "" "p.(Gln272*)" "r.(?)" "" "" "" "" "" "-" "0000016816" "00000392" "00" "826" "1" "826" "1" "c.826+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016817" "00000392" "00" "903" "0" "903" "0" "c.903G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016818" "00000392" "00" "904" "0" "904" "0" "c.904del" "" "p.(Lys302Argfs*11)" "r.(?)" "" "" "" "" "" "-" "0000016819" "00000392" "00" "935" "0" "935" "0" "c.935T>C" "" "p.(Ile312Thr)" "r.(?)" "" "" "" "" "" "-" "0000016820" "00000392" "00" "941" "-14" "941" "-13" "c.941-14_941-13insCT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016821" "00000392" "00" "967" "0" "967" "0" "c.967A>G" "" "p.(Ile323Val)" "r.(?)" "" "" "" "" "" "-" "0000016822" "00000392" "00" "978" "0" "978" "0" "c.978A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016823" "00000392" "00" "979" "0" "979" "0" "c.979A>G" "" "p.(Ile327Val)" "r.(?)" "" "" "" "" "" "-" "0000016824" "00000392" "00" "997" "0" "997" "0" "c.997G>C" "" "p.(Ala333Pro)" "r.(?)" "" "" "" "" "" "-" "0000016825" "00000392" "00" "1006" "-10" "1006" "-10" "c.1006-10A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016826" "00000392" "00" "1006" "-4" "1006" "-1" "c.1006-4_1006-1delinsAAA" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016827" "00000392" "00" "1006" "-2" "1006" "-2" "c.1006-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016828" "00000392" "00" "1006" "-1" "1006" "-1" "c.1006-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016829" "00000392" "00" "1031" "0" "1033" "0" "c.1031_1033del" "" "p.(Glu345del)" "r.(?)" "" "" "" "" "" "-" "0000016830" "00000392" "00" "1068" "0" "1068" "0" "c.1068T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016831" "00000392" "00" "1082" "0" "1083" "0" "c.1082_1083insA" "" "p.(Ala362Serfs*4)" "r.(?)" "" "" "" "" "" "-" "0000016832" "00000392" "00" "1136" "0" "1136" "0" "c.1136G>T" "" "p.(Gly379Val)" "r.(?)" "" "" "" "" "" "-" "0000016833" "00000392" "00" "1138" "0" "1138" "0" "c.1138G>A" "" "p.(Ala380Thr)" "r.(?)" "" "" "" "" "" "-" "0000016834" "00000392" "00" "1163" "2" "1163" "2" "c.1163+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016835" "00000392" "00" "1198" "0" "1198" "0" "c.1198C>T" "" "p.(His400Tyr)" "r.(?)" "" "" "" "" "" "-" "0000016836" "00000392" "00" "1199" "0" "1199" "0" "c.1199A>G" "" "p.(His400Arg)" "r.(?)" "" "" "" "" "" "-" "0000016837" "00000392" "00" "1217" "0" "1217" "0" "c.1217A>G" "" "p.(Glu406Gly)" "r.(?)" "" "" "" "" "" "-" "0000016838" "00000392" "00" "1222" "0" "1222" "0" "c.1222G>C" "" "p.(Gly408Arg)" "r.(?)" "" "" "" "" "" "-" "0000016839" "00000392" "00" "1229" "0" "1229" "0" "c.1229C>T" "" "p.(Ala410Val)" "r.(?)" "" "" "" "" "" "-" "0000016840" "00000392" "00" "1288" "0" "1289" "0" "c.*4_*5insC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016841" "00000392" "00" "1339" "0" "1339" "0" "c.*55T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016842" "00000392" "00" "1385" "0" "1386" "0" "c.*101_*102insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016843" "00000392" "00" "1404" "0" "1405" "0" "c.*120_*121insTTAAC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016844" "00000392" "00" "1463" "0" "1463" "0" "c.*179T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016845" "00000392" "00" "1498" "0" "1498" "0" "c.*214G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016846" "00000392" "00" "1517" "0" "1518" "0" "c.*233_*234del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016847" "00000392" "00" "1534" "0" "1534" "0" "c.*250C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016848" "00000392" "00" "1542" "0" "1542" "0" "c.*258G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016849" "00000392" "00" "1575" "0" "1575" "0" "c.*291A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016850" "00000392" "00" "1577" "0" "1577" "0" "c.*293A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016851" "00000392" "00" "1628" "0" "1628" "0" "c.*344T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016852" "00000392" "00" "1677" "0" "1677" "0" "c.*393A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016853" "00000392" "00" "1748" "0" "1748" "0" "c.*464A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016854" "00000392" "00" "1749" "0" "1750" "0" "c.*465_*466insAATC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016855" "00000392" "00" "1791" "0" "1791" "0" "c.*507G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016856" "00000392" "00" "1837" "0" "1837" "0" "c.*553T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016857" "00000392" "00" "1839" "0" "1839" "0" "c.*555A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016858" "00000392" "00" "1875" "0" "1875" "0" "c.*591A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016859" "00000392" "00" "1883" "0" "1883" "0" "c.*599A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016860" "00000392" "00" "1959" "0" "1959" "0" "c.*675A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016861" "00000392" "00" "1987" "0" "1987" "0" "c.*703T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016862" "00000392" "00" "2037" "0" "2037" "0" "c.*753C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016863" "00000392" "00" "2061" "0" "2062" "2" "c.*777_*780del" "" "p.?" "r.?" "" "" "" "" "" "-" "0000024166" "00000392" "00" "47" "0" "48" "0" "c.47_48insC" "" "p.(Leu18Profs*49)" "r.(?)" "" "" "" "" "" "-" "0000024167" "00000392" "00" "622" "0" "622" "0" "c.622C>T" "" "p.(Arg208*)" "r.(?)" "" "" "" "" "" "-" "0000024168" "00000392" "00" "1043" "0" "1043" "0" "c.1043del" "" "p.(Ala348Glufs*5)" "r.(?)" "" "" "" "" "" "-" "0000024169" "00000392" "00" "1160" "0" "1160" "0" "c.1160T>C" "" "p.(Ile387Thr)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0