### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AAAS) # 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}}" "AAAS" "achalasia, adrenocortical insufficiency, alacrimia" "12" "q13" "unknown" "NG_016775.1" "UD_132118874871" "" "http://www.LOVD.nl/AAAS" "" "1" "13666" "8086" "605378" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/AAAS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-07-25 20:57:02" "00000" "2022-05-09 15:40:45" ## 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}}" "00024156" "AAAS" "transcript variant 1" "002" "NM_015665.5" "" "NP_056480.1" "" "" "" "-163" "1674" "1641" "53715412" "53701240" "00006" "2016-07-21 20:35:02" "" "" "00024311" "AAAS" "achalasia, adrenocortical insufficiency, alacrimia, transcript variant 2" "001" "NM_001173466.1" "" "NP_001166937.1" "" "" "" "-163" "1575" "1542" "53715412" "53701240" "00000" "2017-08-07 13:19:16" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00969" "AAAS" "achalasia-addisonianism-alacrimia syndrome (AAAS)" "AR" "231550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AAAS" "00139" "AAAS" "00969" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00290756" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295567" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00374172" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-4266" "00374173" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3752" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00290756" "00198" "00295567" "00198" "00374172" "00198" "00374173" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00969 ## Count = 3 "{{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}}" "0000223132" "00198" "00295567" "01164" "Unknown" "" "Abnormality of the curvature of the vertebral column (HP:0010674); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Hip dysplasia (HP:0001385); Abnormality of the esophagus (HP:0002031); Achalasia (HP:0002571); Scoliosis (HP:0002650); Abnormality of the hip bone (HP:0003272); Demyelinating peripheral neuropathy (HP:0007108); Sensorimotor neuropathy (HP:0007141)" "" "" "" "" "" "" "" "" "" "" "" "0000269382" "00198" "00374172" "00006" "Familial, autosomal recessive" "" "Features suggestive of AAA syndrome" "" "" "" "" "" "" "" "" "" "Achalasia-Addisonianism-Alacrima syndrome" "" "0000269383" "00198" "00374173" "00006" "Familial, autosomal recessive" "" "Decreased lacrimation, adrenal insufficiency and achalasia" "" "" "" "" "" "" "" "" "" "Achalasia-Addisonianism-Alacrima syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291924" "00290756" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296737" "00295567" "1" "01164" "01164" "2020-03-18 10:48:26" "" "" "SEQ-NG-S" "DNA" "" "" "0000375366" "00374172" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375367" "00374173" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000375366" "AAAS" "0000375367" "AAAS" ## 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 = 25 "{{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}}" "0000249173" "0" "10" "12" "53714496" "53714496" "subst" "0.981957" "02325" "AAAS_000007" "g.53714496A>G" "" "" "" "AAAS(NM_015665.6):c.124-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53320712A>G" "" "benign" "" "0000258819" "0" "10" "12" "53703021" "53703021" "subst" "0.979828" "02325" "AAAS_000005" "g.53703021G>A" "" "" "" "AAAS(NM_015665.6):c.855C>T (p.F285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53309237G>A" "" "benign" "" "0000259837" "0" "90" "12" "53701835" "53701835" "subst" "0.000044669" "02329" "AAAS_000002" "g.53701835C>T" "" "" "" "AAAS(NM_015665.5):c.1331+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53308051C>T" "" "pathogenic" "" "0000261561" "0" "30" "12" "53701866" "53701866" "subst" "0.000706599" "01943" "AAAS_000003" "g.53701866C>T" "" "" "" "AAAS(NM_015665.5):c.1301G>A (p.R434Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53308082C>T" "" "likely benign" "" "0000322893" "0" "50" "12" "53700866" "53700866" "subst" "0.0000284375" "01804" "C12orf10_000001" "g.53700866G>A" "" "" "" "C12orf10(NM_021640.3):c.1064G>A (p.(Arg355Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53307082G>A" "" "VUS" "" "0000322895" "0" "50" "12" "53702572" "53702572" "subst" "0.00000812717" "01804" "AAAS_000004" "g.53702572G>A" "" "" "" "AAAS(NM_001173466.1):c.925C>T (p.(Arg309Ter)), AAAS(NM_015665.5):c.1024C>T (p.R342*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53308788G>A" "" "VUS" "" "0000338380" "0" "90" "12" "53701835" "53701835" "subst" "0.000044669" "02327" "AAAS_000002" "g.53701835C>T" "" "" "" "AAAS(NM_015665.5):c.1331+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53308051C>T" "" "pathogenic" "" "0000548622" "0" "10" "12" "53708092" "53708092" "subst" "0.00480422" "01943" "AAAS_000008" "g.53708092A>G" "" "" "" "AAAS(NM_015665.5):c.679T>C (p.L227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53314308A>G" "" "benign" "" "0000614299" "0" "90" "12" "53701835" "53701835" "subst" "0.000044669" "01943" "AAAS_000002" "g.53701835C>T" "" "" "" "AAAS(NM_015665.5):c.1331+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53308051C>T" "" "pathogenic" "" "0000614300" "0" "30" "12" "53702058" "53702058" "subst" "0.000361404" "01943" "C12orf10_000003" "g.53702058C>T" "" "" "" "AAAS(NM_015665.5):c.1249+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53308274C>T" "" "likely benign" "" "0000614301" "0" "30" "12" "53709162" "53709162" "subst" "0.000293038" "01943" "AAAS_000010" "g.53709162C>T" "" "" "" "AAAS(NM_015665.5):c.356G>A (p.R119Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53315378C>T" "" "likely benign" "" "0000614302" "0" "90" "12" "53715207" "53715207" "subst" "0.000190917" "01804" "AAAS_000011" "g.53715207G>T" "" "" "" "AAAS(NM_015665.5):c.43C>A (p.(Gln15Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53321423G>T" "" "pathogenic" "" "0000622935" "0" "30" "12" "53701500" "53701500" "subst" "0" "01943" "C12orf10_000002" "g.53701500G>A" "" "" "" "AAAS(NM_015665.5):c.1417-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53307716G>A" "" "likely benign" "" "0000648613" "1" "70" "12" "53703408" "53703408" "subst" "0.000110678" "03575" "AAAS_000012" "g.53703408A>G" "1/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121918550}" "Germline" "" "rs121918550" "0" "" "" "g.53309624A>G" "" "likely pathogenic" "" "0000653437" "3" "90" "12" "53708616" "53708616" "subst" "0.0000203918" "01164" "AAAS_000013" "g.53708616C>T" "" "" "" "" "" "Germline" "" "rs758440592" "0" "" "" "g.53314832C>T" "" "pathogenic" "ACMG" "0000657152" "0" "30" "12" "53702081" "53702081" "subst" "0.0000649699" "01804" "C12orf10_000004" "g.53702081C>T" "" "" "" "AAAS(NM_001173466.1):c.1135G>A (p.(Ala379Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53308297C>T" "" "likely benign" "" "0000657153" "0" "70" "12" "53702572" "53702572" "subst" "0.00000812717" "01943" "AAAS_000004" "g.53702572G>A" "" "" "" "AAAS(NM_001173466.1):c.925C>T (p.(Arg309Ter)), AAAS(NM_015665.5):c.1024C>T (p.R342*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53308788G>A" "" "likely pathogenic" "" "0000691379" "0" "30" "12" "53701471" "53701471" "subst" "0" "01943" "C12orf10_000005" "g.53701471G>A" "" "" "" "AAAS(NM_015665.5):c.1443C>T (p.H481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724136" "0" "50" "12" "53702960" "53702960" "subst" "0.00000406075" "02325" "C12orf10_000006" "g.53702960T>G" "" "" "" "AAAS(NM_015665.6):c.916A>C (p.T306P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724137" "0" "50" "12" "53715194" "53715194" "subst" "0.0000040627" "01943" "AAAS_000014" "g.53715194T>C" "" "" "" "AAAS(NM_015665.5):c.56A>G (p.Y19C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786717" "3" "90" "12" "53715207" "53715207" "subst" "0.000190917" "00006" "AAAS_000011" "g.53715207G>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.53321423G>T" "" "pathogenic" "" "0000786718" "3" "90" "12" "53703020" "53703021" "delins" "0" "00006" "AAAS_000015" "g.53703020_53703021delinsAA" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.53309236_53309237delinsAA" "" "pathogenic" "" "0000805838" "0" "30" "12" "53701621" "53701621" "subst" "0.000373719" "01943" "C12orf10_000007" "g.53701621G>A" "" "" "" "AAAS(NM_015665.5):c.1416+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805839" "0" "30" "12" "53702994" "53702994" "subst" "0.000284259" "01943" "C12orf10_000008" "g.53702994G>A" "" "" "" "AAAS(NM_015665.5):c.882C>T (p.L294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853457" "0" "50" "12" "53701436" "53701436" "subst" "0.0000081369" "02327" "C12orf10_000009" "g.53701436C>T" "" "" "" "" "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 AAAS ## Count = 47 "{{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}}" "0000249173" "00024156" "10" "124" "-20" "124" "-20" "c.124-20T>C" "r.(=)" "p.(=)" "" "0000249173" "00024311" "10" "124" "-20" "124" "-20" "c.124-20T>C" "r.(=)" "p.(=)" "" "0000258819" "00024156" "10" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Phe285=)" "" "0000258819" "00024311" "10" "756" "0" "756" "0" "c.756C>T" "r.(?)" "p.(Phe252=)" "" "0000259837" "00024156" "90" "1331" "1" "1331" "1" "c.1331+1G>A" "r.spl?" "p.?" "" "0000259837" "00024311" "90" "1232" "1" "1232" "1" "c.1232+1G>A" "r.spl?" "p.?" "" "0000261561" "00024156" "30" "1301" "0" "1301" "0" "c.1301G>A" "r.(?)" "p.(Arg434Gln)" "" "0000261561" "00024311" "30" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Arg401Gln)" "" "0000322893" "00024156" "50" "2048" "0" "2048" "0" "c.*407C>T" "r.(=)" "p.(=)" "" "0000322893" "00024311" "50" "1949" "0" "1949" "0" "c.*407C>T" "r.(=)" "p.(=)" "" "0000322895" "00024156" "50" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Arg342Ter)" "" "0000322895" "00024311" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Ter)" "" "0000338380" "00024156" "90" "1331" "1" "1331" "1" "c.1331+1G>A" "r.spl?" "p.?" "" "0000338380" "00024311" "90" "1232" "1" "1232" "1" "c.1232+1G>A" "r.spl?" "p.?" "" "0000548622" "00024156" "10" "679" "0" "679" "0" "c.679T>C" "r.(?)" "p.(Leu227=)" "" "0000548622" "00024311" "10" "580" "0" "580" "0" "c.580T>C" "r.(?)" "p.(Leu194=)" "" "0000614299" "00024156" "90" "1331" "1" "1331" "1" "c.1331+1G>A" "r.spl?" "p.?" "" "0000614299" "00024311" "90" "1232" "1" "1232" "1" "c.1232+1G>A" "r.spl?" "p.?" "" "0000614300" "00024156" "30" "1249" "8" "1249" "8" "c.1249+8G>A" "r.(=)" "p.(=)" "" "0000614300" "00024311" "30" "1150" "8" "1150" "8" "c.1150+8G>A" "r.(=)" "p.(=)" "" "0000614301" "00024156" "30" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119Gln)" "" "0000614301" "00024311" "30" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119Gln)" "" "0000614302" "00024156" "90" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "" "0000614302" "00024311" "90" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "" "0000622935" "00024156" "30" "1417" "-3" "1417" "-3" "c.1417-3C>T" "r.spl?" "p.?" "" "0000622935" "00024311" "30" "1318" "-3" "1318" "-3" "c.1318-3C>T" "r.spl?" "p.?" "" "0000648613" "00024156" "70" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Ser263Pro)" "" "0000648613" "00024311" "70" "688" "0" "688" "0" "c.688T>C" "r.(?)" "p.(Ser230Pro)" "" "0000653437" "00024156" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "" "0000657152" "00024156" "30" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Ala412Thr)" "" "0000657152" "00024311" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Ala379Thr)" "" "0000657153" "00024156" "70" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Arg342Ter)" "" "0000657153" "00024311" "70" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Ter)" "" "0000691379" "00024156" "30" "1443" "0" "1443" "0" "c.1443C>T" "r.(?)" "p.(His481=)" "" "0000691379" "00024311" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(His448=)" "" "0000724136" "00024156" "50" "916" "0" "916" "0" "c.916A>C" "r.(?)" "p.(Thr306Pro)" "" "0000724136" "00024311" "50" "817" "0" "817" "0" "c.817A>C" "r.(?)" "p.(Thr273Pro)" "" "0000724137" "00024156" "50" "56" "0" "56" "0" "c.56A>G" "r.(?)" "p.(Tyr19Cys)" "" "0000724137" "00024311" "50" "56" "0" "56" "0" "c.56A>G" "r.(?)" "p.(Tyr19Cys)" "" "0000786717" "00024156" "90" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "1" "0000786718" "00024156" "90" "855" "0" "856" "0" "c.855_856delinsTT" "r.(?)" "p.(Arg286Ter)" "9" "0000805838" "00024156" "30" "1416" "8" "1416" "8" "c.1416+8C>T" "r.(=)" "p.(=)" "" "0000805838" "00024311" "30" "1317" "8" "1317" "8" "c.1317+8C>T" "r.(=)" "p.(=)" "" "0000805839" "00024156" "30" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Leu294=)" "" "0000805839" "00024311" "30" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(Leu261=)" "" "0000853457" "00024156" "50" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493His)" "" "0000853457" "00024311" "50" "1379" "0" "1379" "0" "c.1379G>A" "r.(?)" "p.(Arg460His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000291924" "0000648613" "0000296737" "0000653437" "0000375366" "0000786717" "0000375367" "0000786718"