### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACTL6B) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "ACTL6B" "actin-like 6B" "7" "q22" "unknown" "NC_000007.13" "UD_132465757428" "" "https://www.LOVD.nl/ACTL6B" "" "1" "160" "51412" "612458" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ACTL6B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-22 19:09:28" "00000" "2025-05-05 21:14:00" ## 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}}" "00002022" "ACTL6B" "actin-like 6B" "001" "NM_016188.4" "" "NP_057272.1" "" "" "" "-107" "1430" "1281" "100254084" "100240720" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05944" "IDDSSAD" "intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD)" "AD" "618470" "" "" "" "00006" "2021-05-28 13:39:36" "" "" "06770" "EIEE76" "Epileptic encephalopathy, early infantile, 76" "AR" "618468" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ACTL6B" "05944" "ACTL6B" "06770" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00150186" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB6569" "00301697" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "F" "yes" "" "" "0" "" "" "" "17-1447" "00373722" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "0" "" "" "Chinese" "iw160" "00419459" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9107" "00434670" "" "" "" "1" "" "00006" "{PMID:Bell 2019:31031012}, {PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat12" "00434671" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat13" "00434672" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat14" "00434673" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat15" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00150186" "00198" "00301697" "00198" "00373722" "00198" "00419459" "00198" "00434670" "05611" "00434671" "05611" "00434672" "05611" "00434673" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611, 05944, 06770 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000122588" "00198" "00150186" "00006" "Unknown" "" "intellectual diability, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000228795" "00198" "00301697" "00006" "Familial, autosomal recessive" "13m" "hyperekplexia and global developmental delay. MRI shown agenesis of corpus collosum with associated with mild ventricular dilatation, mild atrophic changes, minimally simplified gyral pattern with prominence of sulci, mild posterior colpocephaly. High lactate peak by MRS. There is history of a similarly affected brother who died at 2 months of age." "" "" "" "" "" "" "" "" "" "" "" "0000268947" "00198" "00373722" "01864" "Familial, autosomal dominant" "" "HP:0002268; HP:0001250; HP:0001249; HP:0002119; HP:0012429; HP:0007370; HP:0001263; HP:0012766" "" "" "" "" "" "" "" "" "IDDSSAD" "" "" "0000310740" "00198" "00419459" "02300" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "0000324919" "05611" "00434670" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000324920" "05611" "00434671" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000324921" "05611" "00434672" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000324922" "05611" "00434673" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000151041" "00150186" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000302821" "00301697" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000374955" "00373722" "1" "01864" "01864" "2021-05-19 08:12:13" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000420763" "00419459" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436142" "00434670" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436143" "00434671" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436144" "00434672" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436145" "00434673" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000151041" "ACTL6B" "0000302821" "ACTL6B" "0000374955" "ACTL6B" ## 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 = 30 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000244206" "3" "90" "7" "100244637" "100244637" "subst" "0" "00006" "ACTL6B_000001" "g.100244637C>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_016188: c.G893A; p.R298Q" "" "Germline" "" "" "0" "" "" "g.100647014C>T" "" "pathogenic" "" "0000311798" "0" "50" "7" "100238650" "100238650" "subst" "1.27274E-5" "02325" "TFR2_000064" "g.100238650G>A" "" "" "" "TFR2(NM_003227.4):c.235C>T (p.R79W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100641027G>A" "" "VUS" "" "0000311799" "0" "30" "7" "100238335" "100238335" "subst" "0.000662089" "02325" "TFR2_000063" "g.100238335C>T" "" "" "" "TFR2(NM_003227.4):c.447G>A (p.G149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100640712C>T" "" "likely benign" "" "0000346009" "0" "50" "7" "100244260" "100244260" "subst" "0" "02327" "ACTL6B_000002" "g.100244260C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100646637C>T" "" "VUS" "" "0000530040" "0" "50" "7" "100238776" "100238776" "subst" "0" "01804" "ACTL6B_000003" "g.100238776C>T" "" "" "" "TFR2(NM_003227.3):c.109G>A (p.(Glu37Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100641153C>T" "" "VUS" "" "0000530042" "0" "50" "7" "100244378" "100244378" "subst" "0" "02327" "ACTL6B_000005" "g.100244378C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100646755C>A" "" "VUS" "" "0000530043" "0" "50" "7" "100245102" "100245102" "subst" "0" "02327" "ACTL6B_000006" "g.100245102G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100647479G>A" "" "VUS" "" "0000530044" "0" "30" "7" "100245135" "100245135" "subst" "4.20073E-6" "01804" "ACTL6B_000007" "g.100245135G>A" "" "" "" "ACTL6B(NM_016188.4):c.691C>T (p.(Pro231Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100647512G>A" "" "likely benign" "" "0000530045" "0" "50" "7" "100246231" "100246231" "subst" "0" "02327" "ACTL6B_000008" "g.100246231A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100648608A>G" "" "VUS" "" "0000530046" "0" "30" "7" "100253168" "100253168" "subst" "0.00334396" "02326" "ACTL6B_000009" "g.100253168C>G" "" "" "" "ACTL6B(NM_016188.4):c.144G>C (p.E48D), ACTL6B(NM_016188.5):c.144G>C (p.E48D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100655545C>G" "" "likely benign" "" "0000666178" "3" "70" "7" "100244392" "100244392" "subst" "0" "00006" "ACTL6B_000010" "g.100244392A>T" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.100646769A>T" "" "likely pathogenic (recessive)" "ACMG" "0000785869" "11" "90" "7" "100244638" "100244638" "subst" "0" "01864" "ACTL6B_000012" "g.100244638C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000786685" "21" "90" "7" "100244395" "100244400" "delins" "0" "01864" "ACTL6B_000011" "g.100244395_100244400delinsTT" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000802785" "0" "30" "7" "100253168" "100253168" "subst" "0.00334396" "01943" "ACTL6B_000009" "g.100253168C>G" "" "" "" "ACTL6B(NM_016188.4):c.144G>C (p.E48D), ACTL6B(NM_016188.5):c.144G>C (p.E48D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851339" "0" "10" "7" "100244678" "100244678" "subst" "0.014674" "02326" "ACTL6B_000013" "g.100244678G>A" "" "" "" "ACTL6B(NM_016188.5):c.852C>T (p.Y284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860550" "0" "50" "7" "100246417" "100246417" "subst" "0" "01943" "ACTL6B_000014" "g.100246417A>G" "" "" "" "ACTL6B(NM_016188.4):c.497T>C (p.V166A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000881122" "0" "90" "7" "100244260" "100244260" "subst" "0" "02300" "ACTL6B_000002" "g.100244260C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS2, PS3, PM2, PM6, PP3, PP4, PP5" "De novo" "" "rs1131692228" "0" "" "" "g.100646637C>T" "" "pathogenic (dominant)" "ACMG" "0000887512" "0" "50" "7" "100243937" "100243937" "subst" "0" "02329" "ACTL6B_000015" "g.100243937C>T" "" "" "" "ACTL6B(NM_016188.5):c.1135G>A (p.A379T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922501" "11" "90" "7" "100245137" "100245137" "del" "0" "00006" "ACTL6B_000018" "g.100245137del" "" "{PMID:Bell 2019:31031012}, {PMID:Chen 2022:34906496}" "" "" "ACMG PVS1, PM2, PM3, PP1, PP4" "Germline" "" "" "0" "" "" "g.100647514del" "" "pathogenic (recessive)" "ACMG" "0000922502" "0" "90" "7" "100244260" "100244260" "subst" "0" "00006" "ACTL6B_000002" "g.100244260C>T" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS1, PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.100646637C>T" "" "pathogenic (dominant)" "ACMG" "0000922503" "0" "90" "7" "100244260" "100244260" "subst" "0" "00006" "ACTL6B_000002" "g.100244260C>T" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS1, PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.100646637C>T" "" "pathogenic (dominant)" "ACMG" "0000922504" "3" "70" "7" "100240890" "100240890" "subst" "0" "00006" "ACTL6B_000017" "g.100240890G>T" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PM2, PM3, PP1, PP4" "Germline" "" "" "0" "" "" "g.100643267G>T" "" "likely pathogenic (recessive)" "ACMG" "0000922615" "21" "90" "7" "100240875" "100240875" "subst" "0" "00006" "ACTL6B_000016" "g.100240875G>T" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PVS1, PM2, PM3, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.100643252G>T" "" "pathogenic (recessive)" "ACMG" "0000924595" "0" "90" "7" "100240883" "100240883" "subst" "4.06937E-6" "02325" "ACTL6B_000019" "g.100240883G>A" "" "" "" "ACTL6B(NM_016188.5):c.1267C>T (p.R423*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924596" "0" "50" "7" "100247680" "100247680" "subst" "0" "02325" "ACTL6B_000020" "g.100247680T>C" "" "" "" "ACTL6B(NM_016188.5):c.448A>G (p.K150E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996013" "0" "50" "7" "100240936" "100240936" "subst" "0" "01804" "ACTL6B_000021" "g.100240936T>A" "" "" "" "ACTL6B(NM_016188.4):c.1214A>T (p.(Gln405Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996014" "0" "50" "7" "100244707" "100244707" "subst" "0" "01804" "ACTL6B_000022" "g.100244707C>T" "" "" "" "ACTL6B(NM_016188.4):c.823G>A (p.(Val275Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996015" "0" "30" "7" "100246219" "100246219" "subst" "0" "01804" "ACTL6B_000023" "g.100246219A>G" "" "" "" "ACTL6B(NM_016188.4):c.629T>C (p.(Met210Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996016" "0" "50" "7" "100246283" "100246283" "subst" "0" "01804" "ACTL6B_000024" "g.100246283T>C" "" "" "" "ACTL6B(NM_016188.4):c.565A>G (p.(Ile189Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035985" "0" "50" "7" "100246368" "100246368" "subst" "0.000146511" "01804" "ACTL6B_000025" "g.100246368G>A" "" "" "" "ACTL6B(NM_016188.5):c.546C>T (p.(Gly182=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes ACTL6B ## Count = 30 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000244206" "00002022" "90" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298Gln)" "" "0000311798" "00002022" "50" "3500" "0" "3500" "0" "c.*2219C>T" "r.(=)" "p.(=)" "" "0000311799" "00002022" "30" "3815" "0" "3815" "0" "c.*2534G>A" "r.(=)" "p.(=)" "" "0000346009" "00002022" "50" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "" "0000530040" "00002022" "50" "3374" "0" "3374" "0" "c.*2093G>A" "r.(=)" "p.(=)" "" "0000530042" "00002022" "50" "1013" "0" "1013" "0" "c.1013G>T" "r.(?)" "p.(Arg338Leu)" "" "0000530043" "00002022" "50" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Gln242Ter)" "" "0000530044" "00002022" "30" "691" "0" "691" "0" "c.691C>T" "r.(?)" "p.(Pro231Ser)" "" "0000530045" "00002022" "50" "617" "0" "617" "0" "c.617T>C" "r.(?)" "p.(Leu206Pro)" "" "0000530046" "00002022" "30" "144" "0" "144" "0" "c.144G>C" "r.(?)" "p.(Glu48Asp)" "" "0000666178" "00002022" "70" "999" "0" "999" "0" "c.999T>A" "r.(?)" "p.(Cys333*)" "" "0000785869" "00002022" "90" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298*)" "11" "0000786685" "00002022" "90" "991" "0" "996" "0" "c.991_996delinsAA" "r.(?)" "p.(Gly331Asnfs*44)" "12" "0000802785" "00002022" "30" "144" "0" "144" "0" "c.144G>C" "r.(?)" "p.(Glu48Asp)" "" "0000851339" "00002022" "10" "852" "0" "852" "0" "c.852C>T" "r.(?)" "p.(Tyr284=)" "" "0000860550" "00002022" "50" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.(Val166Ala)" "" "0000881122" "00002022" "90" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "" "0000887512" "00002022" "50" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Ala379Thr)" "" "0000922501" "00002022" "90" "695" "0" "695" "0" "c.695del" "r.(?)" "p.(Pro232GlnfsTer24)" "8" "0000922502" "00002022" "90" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "12" "0000922503" "00002022" "90" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "12" "0000922504" "00002022" "70" "1260" "0" "1260" "0" "c.1260C>A" "r.(?)" "p.(Cys420Ter)" "14" "0000922615" "00002022" "90" "1275" "0" "1275" "0" "c.1275C>A" "r.(?)" "p.(Cys425Ter)" "14" "0000924595" "00002022" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423*)" "" "0000924596" "00002022" "50" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Lys150Glu)" "" "0000996013" "00002022" "50" "1214" "0" "1214" "0" "c.1214A>T" "r.(?)" "p.(Gln405Leu)" "" "0000996014" "00002022" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Val275Met)" "" "0000996015" "00002022" "30" "629" "0" "629" "0" "c.629T>C" "r.(?)" "p.(Met210Thr)" "" "0000996016" "00002022" "50" "565" "0" "565" "0" "c.565A>G" "r.(?)" "p.(Ile189Val)" "" "0001035985" "00002022" "50" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000151041" "0000244206" "0000302821" "0000666178" "0000374955" "0000785869" "0000374955" "0000786685" "0000420763" "0000881122" "0000436142" "0000922501" "0000436142" "0000922615" "0000436143" "0000922502" "0000436144" "0000922503" "0000436145" "0000922504"