### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADAT3) # 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}}" "ADAT3" "adenosine deaminase, tRNA-specific 3" "19" "p13.3" "unknown" "NG_051211.1" "UD_136085449992" "" "https://www.LOVD.nl/ADAT3" "" "1" "25151" "113179" "615302" "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/ADAT3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-09 18:27:13" "00000" "2024-08-28 13:16:32" ## 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}}" "00002121" "ADAT3" "adenosine deaminase, tRNA-specific 3" "001" "NM_138422.2" "" "NP_612431.2" "" "" "" "-226" "1400" "1104" "1905371" "1913446" "" "0000-00-00 00:00:00" "" "" ## 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" "03886" "MRT36" "mental retardation, autosomal recessive, type 36 (MRT-36)" "AR" "615286" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ADAT3" "03886" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00080884" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080980" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00081076" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00361520" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG0313" "00361566" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG0628" "00361574" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "10DG1658" "00361594" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "08F-00103" "00361622" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "10DG0053" "00361623" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG1198" "00361627" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "09DG00479" "00415247" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "M" "" "" "" "0" "" "" "" "2" "00415248" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "M" "" "" "" "0" "" "" "" "3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00080884" "03886" "00080980" "03886" "00081076" "03886" "00361520" "00139" "00361566" "00139" "00361574" "00139" "00361594" "00139" "00361622" "00139" "00361623" "00139" "00361627" "00139" "00415247" "04214" "00415248" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 03886, 04214 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000060453" "03886" "00080884" "01758" "Familial, autosomal recessive" "" "Mental retardation, autosomal recessive 36 (OMIM:615286)" "" "" "" "" "" "" "" "" "" "" "0000060549" "03886" "00080980" "01758" "Familial, autosomal recessive" "" "Mental retardation, autosomal recessive 36 (OMIM:615286)" "" "" "" "" "" "" "" "" "" "" "0000060645" "03886" "00081076" "01758" "Familial, autosomal recessive" "" "Mental retardation, autosomal recessive 36 (OMIM:615286)" "" "" "" "" "" "" "" "" "" "" "0000256925" "00139" "00361520" "00006" "Familial, autosomal recessive" "3y7m" "not syndromic; intellectual disability and strabismus" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000256971" "00139" "00361566" "00006" "Familial, autosomal recessive" "3y" "not syndromic; intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000256979" "00139" "00361574" "00006" "Familial, autosomal recessive" "12y" "not syndromic; intellectual disability, short stature, strabismus, seizurs, brain atrophy" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000256999" "00139" "00361594" "00006" "Familial, autosomal recessive" "3y" "not syndromic; intellectual disability with strabismus" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000257027" "00139" "00361622" "00006" "Familial, autosomal recessive" "9y" "not syndromic; intellectual disability with strabismus" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000257028" "00139" "00361623" "00006" "Familial, autosomal recessive" "11y" "not syndromic; intellectual disability, microcephaly, strabismus, ADHD" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000257032" "00139" "00361627" "00006" "Familial, autosomal recessive" "5y" "not syndromic; intellectual disability with strabismus" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000307045" "04214" "00415247" "00000" "Familial, autosomal recessive" "" "OMIM: 602014; failure to thrive, developmental and speech delay, and celiac disease" "" "" "" "" "" "" "" "" "Mental Retardation Autosomal recessive 36" "" "0000307046" "04214" "00415248" "00000" "Familial, autosomal recessive" "" "OMIM: 615286; muscular hypotonia, strabismus, brachycephalic triangle long face, pointed chin, long philtrum, thin upper lips, and epicanthal folds with squint and rocker bottom feet" "" "" "" "" "" "" "" "" "Mental Retardation Autosomal recessive 36" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080996" "00080884" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081092" "00080980" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081188" "00081076" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000362748" "00361520" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000362794" "00361566" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000362802" "00361574" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000362822" "00361594" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000362850" "00361622" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000362851" "00361623" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000362855" "00361627" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000416529" "00415247" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000416530" "00415248" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000080996" "ADAT3" "0000081092" "ADAT3" "0000081188" "ADAT3" "0000362748" "ADAT3" "0000362794" "ADAT3" "0000362802" "ADAT3" "0000362822" "ADAT3" "0000362850" "ADAT3" "0000362851" "ADAT3" "0000362855" "ADAT3" "0000416529" "ADAT3" "0000416530" "ADAT3" ## 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 = 21 "{{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}}" "0000130082" "3" "90" "19" "1912476" "1912476" "subst" "0" "01758" "ADAT3_000001" "g.1912476G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.1912477G>A" "" "pathogenic" "ACMG" "0000130178" "3" "90" "19" "1912476" "1912476" "subst" "0" "01758" "ADAT3_000001" "g.1912476G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.1912477G>A" "" "pathogenic" "ACMG" "0000130274" "3" "90" "19" "1912476" "1912476" "subst" "0" "01758" "ADAT3_000001" "g.1912476G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.1912477G>A" "" "pathogenic" "ACMG" "0000350296" "0" "70" "19" "1912476" "1912476" "subst" "0" "02327" "ADAT3_000001" "g.1912476G>A" "" "" "" "ADAT3(NM_138422.4):c.430G>A (p.V144M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1912477G>A" "" "likely pathogenic" "" "0000566702" "0" "50" "19" "1912062" "1912062" "del" "0" "02325" "ADAT3_000003" "g.1912062del" "" "" "" "ADAT3(NM_138422.4):c.16delC (p.R6Vfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1912063del" "" "VUS" "" "0000566703" "0" "30" "19" "1918134" "1918134" "subst" "0.0112814" "01804" "ADAT3_000004" "g.1918134G>A" "" "" "" "SCAMP4(NM_079834.2):c.145G>A (p.(Ala49Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1918135G>A" "" "likely benign" "" "0000623961" "0" "50" "19" "1912686" "1912686" "subst" "0" "02325" "ADAT3_000005" "g.1912686G>A" "" "" "" "ADAT3(NM_138422.4):c.640G>A (p.V214M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1912687G>A" "" "VUS" "" "0000763122" "3" "70" "19" "1912476" "1912476" "subst" "0" "00006" "ADAT3_000001" "g.1912476G>A" "" "{PMID:Anazi 2017:27431290}" "" "NM_138422.1:c.382G>A" "ACMG PS4, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.1912477G>A" "" "likely pathogenic" "ACMG" "0000763168" "3" "70" "19" "1912476" "1912476" "subst" "0" "00006" "ADAT3_000001" "g.1912476G>A" "" "{PMID:Anazi 2017:27431290}" "" "NM_138422.1:c.382G>A" "ACMG PS4, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.1912477G>A" "" "likely pathogenic" "ACMG" "0000763176" "3" "70" "19" "1912476" "1912476" "subst" "0" "00006" "ADAT3_000001" "g.1912476G>A" "" "{PMID:Anazi 2017:27431290}" "" "NM_138422.1:c.382G>A" "ACMG PS4, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.1912477G>A" "" "likely pathogenic" "ACMG" "0000763196" "3" "70" "19" "1912476" "1912476" "subst" "0" "00006" "ADAT3_000001" "g.1912476G>A" "" "{PMID:Anazi 2017:27431290}" "" "NM_138422.1:c.382G>A" "ACMG PS4, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.1912477G>A" "" "likely pathogenic" "ACMG" "0000763224" "3" "70" "19" "1912476" "1912476" "subst" "0" "00006" "ADAT3_000001" "g.1912476G>A" "" "{PMID:Anazi 2017:27431290}" "" "NM_138422.1:c.382G>A" "ACMG PS4, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.1912477G>A" "" "likely pathogenic" "ACMG" "0000763225" "3" "70" "19" "1912476" "1912476" "subst" "0" "00006" "ADAT3_000001" "g.1912476G>A" "" "{PMID:Anazi 2017:27431290}" "" "NM_138422.1:c.382G>A" "ACMG PS4, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.1912477G>A" "" "likely pathogenic" "ACMG" "0000763229" "3" "70" "19" "1912476" "1912476" "subst" "0" "00006" "ADAT3_000001" "g.1912476G>A" "" "{PMID:Anazi 2017:27431290}" "" "NM_138422.1:c.382G>A" "ACMG PS4, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.1912477G>A" "" "likely pathogenic" "ACMG" "0000808782" "0" "50" "19" "1912297" "1912297" "subst" "0.000121914" "02325" "ADAT3_000006" "g.1912297C>G" "" "" "" "ADAT3(NM_138422.4):c.251C>G (p.P84R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808783" "0" "50" "19" "1912681" "1912689" "del" "0" "02325" "ADAT3_000007" "g.1912681_1912689del" "" "" "" "ADAT3(NM_138422.4):c.635_643delGGGCCGTGG (p.G212_V214del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855493" "0" "90" "19" "1912476" "1912476" "subst" "0" "02329" "ADAT3_000001" "g.1912476G>A" "" "" "" "ADAT3(NM_138422.4):c.430G>A (p.V144M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000874657" "3" "70" "19" "1912476" "1912476" "subst" "0" "00000" "ADAT3_000001" "g.1912476G>A" "frequency in 1500 in-house samples: 0.0002" "{PMID:Alfares 2018:30202406}" "" "ADAT3, NM_138422.3, c.430G>A, p.Val144Met" "homozygous" "Unknown" "?" "" "0" "" "" "g.1912477G>A" "" "likely pathogenic" "ACMG" "0000874658" "3" "70" "19" "1912476" "1912476" "subst" "0" "00000" "ADAT3_000001" "g.1912476G>A" "frequency in 1500 in-house samples: 0.0002" "{PMID:Alfares 2018:30202406}" "" "ADAT3, NM_138422.3, c.430G>A, p.Val144Met" "homozygous" "Unknown" "?" "" "0" "" "" "g.1912477G>A" "" "likely pathogenic" "ACMG" "0001004554" "0" "90" "19" "1912633" "1912633" "subst" "0" "02329" "ADAT3_000008" "g.1912633C>T" "" "" "" "ADAT3(NM_138422.4):c.587C>T (p.A196V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001004555" "0" "50" "19" "1912681" "1912689" "del" "0" "02329" "ADAT3_000007" "g.1912681_1912689del" "" "" "" "ADAT3(NM_138422.4):c.635_643delGGGCCGTGG (p.G212_V214del)" "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 ADAT3 ## Count = 21 "{{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}}" "0000130082" "00002121" "90" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000130178" "00002121" "90" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000130274" "00002121" "90" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000350296" "00002121" "70" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000566702" "00002121" "50" "16" "0" "16" "0" "c.16del" "r.(?)" "p.(Arg6ValfsTer10)" "" "0000566703" "00002121" "30" "6088" "0" "6088" "0" "c.*4984G>A" "r.(=)" "p.(=)" "" "0000623961" "00002121" "50" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Val214Met)" "" "0000763122" "00002121" "70" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000763168" "00002121" "70" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000763176" "00002121" "70" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000763196" "00002121" "70" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000763224" "00002121" "70" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000763225" "00002121" "70" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000763229" "00002121" "70" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000808782" "00002121" "50" "251" "0" "251" "0" "c.251C>G" "r.(?)" "p.(Pro84Arg)" "" "0000808783" "00002121" "50" "635" "0" "643" "0" "c.635_643del" "r.(?)" "p.(Gly212_Val214del)" "" "0000855493" "00002121" "90" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000874657" "00002121" "70" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0000874658" "00002121" "70" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Val144Met)" "" "0001004554" "00002121" "90" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Ala196Val)" "" "0001004555" "00002121" "50" "635" "0" "643" "0" "c.635_643del" "r.(?)" "p.(Gly212_Val214del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000080996" "0000130082" "0000081092" "0000130178" "0000081188" "0000130274" "0000362748" "0000763122" "0000362794" "0000763168" "0000362802" "0000763176" "0000362822" "0000763196" "0000362850" "0000763224" "0000362851" "0000763225" "0000362855" "0000763229" "0000416529" "0000874657" "0000416530" "0000874658"