### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOVA2) # 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}}" "NOVA2" "neuro-oncological ventral antigen 2" "19" "q13.3" "unknown" "NC_000019.9" "UD_132609953888" "" "https://www.LOVD.nl/NOVA2" "" "1" "7887" "4858" "601991" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/NOVA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-04 11:21:47" "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}}" "00014707" "NOVA2" "neuro-oncological ventral antigen 2" "001" "NM_002516.2" "" "NP_002507.1" "" "" "" "-48" "1829" "1479" "46476657" "46442771" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "05968" "NEDASB" "neurodevelopmental disorder with/without autistic features and/or structural brain abnormalities (NEDASB)" "AD" "618859" "" "" "" "00006" "2021-09-08 13:46:58" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NOVA2" "05968" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00296262" "" "" "" "1" "" "00006" "{PMID:Mattioli 2020:32197073}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.02.013}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat1" "00296263" "" "" "" "1" "" "00006" "{PMID:Mattioli 2020:32197073}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.02.013}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00296264" "" "" "" "1" "" "00006" "{PMID:Mattioli 2020:32197073}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.02.013}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat3" "00296265" "" "" "" "1" "" "00006" "{PMID:Mattioli 2020:32197073}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.02.013}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00296266" "" "" "" "1" "" "00006" "{PMID:Mattioli 2020:32197073}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.02.013}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Pat5" "00296267" "" "" "" "1" "" "00006" "{PMID:Mattioli 2020:32197073}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.02.013}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat6" "00382159" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "NO#1" "00382160" "" "" "" "1" "" "03565" "" "" "" "" "" "" "0" "" "" "" "GE#2" "00382161" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "NO#3" "00382162" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "NO#4" "00382163" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "NO#5" "00382164" "" "" "" "1" "" "03565" "" "" "" "" "" "" "0" "" "" "" "NO#6" "00404287" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00296262" "00198" "00296263" "00198" "00296264" "00198" "00296265" "00198" "00296266" "00198" "00296267" "00198" "00382159" "00198" "00382160" "00198" "00382161" "00198" "00382162" "00198" "00382163" "00198" "00382164" "00198" "00404287" "05968" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05968 ## Count = 7 "{{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}}" "0000223729" "00198" "00296262" "00006" "Isolated (sporadic)" "5y6m" "see paper; ..., birth weight 3,515g, length 50cm, OFC 35cm; weight 14kg (−2.5 SD), length 100cm (−2 SD), OFC 49cm (−0.5 SD); facial dysmorphy; no congenital malformations; intellectual disability; motor developmental delay; speech delay, no words; autistic traits; stereotypic movements; seizures; spasticity/ataxic gait; frequent laughter; attraction with water; feeding difficulties; MRI brain cortical atrophy" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000223730" "00198" "00296263" "00006" "Isolated (sporadic)" "2y1m" "see paper; ..., birth weight 3,64g, length 51cm, OFC 36cm; weight 9.6kg (−2 SD), length 81cm (−2 SD), OFC 46cm (−1 SD); facial dysmorphy; no congenital malformations; intellectual disability; motor developmental delay; speech delay; anger, autism; stereotypic movements hands; no seizures; spasticity/ataxic gait; no frequent laughter; no attraction with water; feeding difficulties; MRI brain normal" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000223731" "00198" "00296264" "00006" "Isolated (sporadic)" "2y2m" "see paper; ..., birth weight 2,327g; weight 10.38kg (−1.8 SD), length 82.8cm (−1.5 SD.), OFC 45cm (−1.8 SD); no congenital malformations; intellectual disability; motor developmental delay; speech delay, no words; no behavioral disorders ; no stereotypic movements; hypotonia; no seizures; spasticity/ataxic gait; no frequent laughter; no attraction with water; no feeding difficulties; MRI brain Chiari malformation, type 1" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000223732" "00198" "00296265" "00006" "Isolated (sporadic)" "2y7m" "see paper; ..., birth weight 3,459g, length 48cm, OFC ; weight 10.5kg (−2 SD), length 85cm (−2 SD), OFC 46.8cm (−1 SD); high hairline, brachycephaly, downslanting palpebral fissure, downturned mouth, bilateral ptosis; congenitallimb malformation; intellectual disability; motor developmental delay; speech delay, no words; hypersensitivity when people touch her head and hair; stereotypic movements hands; hypotonia; no seizures; no spasticity/ataxic gait; frequent laughter; no attraction with water; feeding difficulties; MRI brain corpus callosum thinning and incidental pineal gland cyst" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000223733" "00198" "00296266" "00006" "Isolated (sporadic)" "21y" "see paper; ..., no facial dysmorphy; no congenital malformations; intellectual disability; motor developmental delay; speech delay, no words; autism; stereotypic movements; no hypotonia; seizures; no spasticity/ataxic gait; no frequent laughter; no attraction with water; feeding difficulties; MRI brain corpus callosum thinning, global white matter volume loss, slight cerebellar volume loss;" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000223734" "00198" "00296267" "00006" "Isolated (sporadic)" "5y5m" "see paper; ..., birth weight 3,75g, length 51cm, OFC 34cm; weight 16kg (−1 SD), length 108cm (0 SD), OFC 48cm (−2 SD); deeply set eyes, anteverted nares, deeply grooved philtrum; no congenital malformations; intellectual disability; motor developmental delay; speech delay; no behavioral disorders ; stereotypic movements (hand flapping); hypotonia; no seizures; spasticity/ataxic gait; no frequent laughter; no attraction with water; feeding difficulties; MRI brain normal" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000296875" "05968" "00404287" "03565" "Familial, autosomal dominant" "" "DD/ID, ASD, ADHD, stereotyped movements, ataxia, facial dysmorphism" "01y" "" "" "" "" "" "" "" "NEDASB" "DD/ID, dysmorphism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000297433" "00296262" "1" "00006" "00006" "2020-04-04 11:25:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297434" "00296263" "1" "00006" "00006" "2020-04-04 11:25:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297435" "00296264" "1" "00006" "00006" "2020-04-04 11:25:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297436" "00296265" "1" "00006" "00006" "2020-04-04 11:25:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297437" "00296266" "1" "00006" "00006" "2020-04-04 11:25:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297438" "00296267" "1" "00006" "00006" "2020-04-04 11:25:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000383373" "00382159" "1" "03565" "03565" "2021-09-07 18:01:45" "" "" "SEQ-NG" "DNA" "" "" "0000383374" "00382160" "1" "03565" "03565" "2021-09-07 18:05:59" "" "" "SEQ-NG" "DNA" "" "" "0000383375" "00382161" "1" "03565" "03565" "2021-09-07 18:08:49" "" "" "SEQ-NG" "DNA" "" "" "0000383376" "00382162" "1" "03565" "03565" "2021-09-07 18:10:38" "" "" "SEQ-NG" "DNA" "" "" "0000383377" "00382163" "1" "03565" "03565" "2021-09-07 18:12:30" "" "" "SEQ-NG" "DNA" "" "" "0000383378" "00382164" "1" "03565" "03565" "2021-09-07 18:14:15" "" "" "SEQ-NG" "DNA" "" "" "0000405526" "00404287" "1" "03565" "03565" "2022-02-28 12:31:39" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000297433" "NOVA2" "0000297434" "NOVA2" "0000297435" "NOVA2" "0000297436" "NOVA2" "0000297437" "NOVA2" "0000297438" "NOVA2" "0000383373" "NOVA2" "0000383374" "NOVA2" "0000383375" "NOVA2" "0000383376" "NOVA2" "0000383377" "NOVA2" "0000383378" "NOVA2" ## 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}}" "0000567791" "0" "70" "19" "46443272" "46443272" "dup" "0" "01943" "NOVA2_000001" "g.46443272dup" "" "" "" "NOVA2(NM_002516.4):c.1329dupC (p.K444Qfs*82)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45940014dup" "" "likely pathogenic" "" "0000617710" "0" "30" "19" "46443725" "46443725" "subst" "0.000100863" "01804" "NOVA2_000002" "g.46443725T>G" "" "" "" "NOVA2(NM_002516.2):c.875A>C (p.(Asn292Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45940467T>G" "" "likely benign" "" "0000660062" "0" "90" "19" "46443818" "46443818" "del" "0" "00006" "NOVA2_000008" "g.46443818del" "" "{PMID:Mattioli 2020:32197073}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.02.013}" "" "" "" "De novo" "" "" "0" "" "" "g.45940560del" "" "pathogenic (dominant)" "" "0000660063" "0" "90" "19" "46443891" "46443892" "dup" "0" "00006" "NOVA2_000005" "g.46443891_46443892dup" "" "{PMID:Mattioli 2020:32197073}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.02.013}" "" "" "" "De novo" "" "" "0" "" "" "g.45940633_45940634dup" "" "pathogenic (dominant)" "" "0000660064" "0" "90" "19" "46443887" "46443906" "dup" "0" "00006" "NOVA2_000003" "g.46443887_46443906dup" "" "{PMID:Mattioli 2020:32197073}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.02.013}" "" "" "" "De novo" "" "" "0" "" "" "g.45940629_45940648dup" "" "pathogenic (dominant)" "" "0000660065" "0" "90" "19" "46443853" "46443892" "del" "0" "00006" "NOVA2_000004" "g.46443853_46443892del" "" "{PMID:Mattioli 2020:32197073}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.02.013}" "" "" "" "De novo" "" "" "0" "" "" "g.45940595_45940634del" "" "pathogenic (dominant)" "" "0000660066" "0" "90" "19" "46443819" "46443819" "del" "0" "00006" "NOVA2_000007" "g.46443819del" "" "{PMID:Mattioli 2020:32197073}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.02.013}" "" "" "" "De novo" "" "" "0" "" "" "g.45940561del" "" "pathogenic (dominant)" "" "0000660067" "0" "90" "19" "46443885" "46443886" "ins" "0" "00006" "NOVA2_000006" "g.46443885_46443886insAAGCACATCCGCGGGGCTGG" "" "{PMID:Mattioli 2020:32197073}, {DOI:Mattioli 2020:10.1016/j.ajhg.2020.02.013}" "" "" "" "De novo" "" "" "0" "" "" "g.45940627_45940628insAAGCACATCCGCGGGGCTGG" "" "pathogenic (dominant)" "" "0000727452" "0" "30" "19" "46443652" "46443652" "subst" "0.000380735" "01943" "NOVA2_000009" "g.46443652G>A" "" "" "" "NOVA2(NM_002516.4):c.948C>T (p.A316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000797459" "0" "90" "19" "46443817" "46443817" "del" "0" "03565" "NOVA2_000014" "g.46443817del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.45940559del" "" "pathogenic" "" "0000797460" "0" "90" "19" "46443844" "46443846" "delins" "0" "03565" "NOVA2_000013" "g.46443844_46443846delinsAA" "" "" "" "754_756delCTGinsTT" "" "De novo" "" "" "0" "" "" "g.45940586_45940588delinsAA" "" "pathogenic" "" "0000797461" "0" "90" "19" "46443272" "46443272" "dup" "0" "03565" "NOVA2_000001" "g.46443272dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.45940014dup" "" "pathogenic" "" "0000797462" "0" "90" "19" "46443775" "46443775" "del" "0" "03565" "NOVA2_000012" "g.46443775del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.45940517del" "" "pathogenic" "" "0000797463" "0" "90" "19" "46444078" "46444078" "del" "0" "03565" "NOVA2_000011" "g.46444078del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.45940820del" "" "pathogenic" "" "0000797464" "0" "90" "19" "46457178" "46457178" "subst" "0" "03565" "NOVA2_000010" "g.46457178G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000808955" "0" "30" "19" "46443516" "46443516" "subst" "0" "01943" "NOVA2_000015" "g.46443516C>T" "" "" "" "NOVA2(NM_002516.4):c.1084G>A (p.A362T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808956" "0" "30" "19" "46444090" "46444090" "subst" "0" "01943" "NOVA2_000016" "g.46444090C>A" "" "" "" "NOVA2(NM_002516.4):c.510G>T (p.P170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808957" "0" "30" "19" "46444177" "46444177" "subst" "7.60084E-5" "01943" "NOVA2_000017" "g.46444177C>T" "" "" "" "NOVA2(NM_002516.4):c.423G>A (p.T141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841619" "0" "90" "19" "46443838" "46443847" "del" "0" "03565" "NOVA2_000018" "g.46443838_46443847del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.45940580_45940589del" "" "pathogenic (dominant)" "ACMG" "0000855635" "0" "30" "19" "46457053" "46457053" "subst" "0.000353386" "01943" "NOVA2_000019" "g.46457053G>A" "" "" "" "NOVA2(NM_002516.4):c.381C>T (p.P127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004903" "0" "30" "19" "46443821" "46443821" "subst" "0" "01804" "NOVA2_000020" "g.46443821C>G" "" "" "" "NOVA2(NM_002516.2):c.779G>C (p.(Gly260Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 NOVA2 ## 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}}" "0000567791" "00014707" "70" "1329" "0" "1329" "0" "c.1329dup" "r.(?)" "p.(Lys444GlnfsTer82)" "" "0000617710" "00014707" "30" "875" "0" "875" "0" "c.875A>C" "r.(?)" "p.(Asn292Thr)" "" "0000660062" "00014707" "90" "782" "0" "782" "0" "c.782del" "r.(?)" "p.(Val261Glyfs*135)" "" "0000660063" "00014707" "90" "710" "0" "711" "0" "c.710_711dup" "r.(?)" "p.(Leu238Cysfs*159)" "" "0000660064" "00014707" "90" "701" "0" "720" "0" "c.701_720dup" "r.(?)" "p.(Ala241Profs*162)" "" "0000660065" "00014707" "90" "709" "0" "748" "0" "c.709_748del" "r.(?)" "p.(Val237Profs*146)" "" "0000660066" "00014707" "90" "781" "0" "781" "0" "c.781del" "r.(?)" "p.(Val261Trpfs*135)" "" "0000660067" "00014707" "90" "720" "0" "721" "0" "c.720_721insCCGCGGATGTGCTTCCAGCC" "r.(?)" "p.(Ala241Profs*162)" "" "0000727452" "00014707" "30" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(Ala316=)" "" "0000797459" "00014707" "90" "787" "0" "787" "0" "c.787del" "r.(?)" "p.(Ala263Profs*133)" "" "0000797460" "00014707" "90" "754" "0" "756" "0" "c.754_756delinsTT" "r.(?)" "p.(Leu252Phefs*144)" "" "0000797461" "00014707" "90" "1329" "0" "1329" "0" "c.1329dup" "r.(?)" "p.(Lys444Glnfs*82)" "" "0000797462" "00014707" "90" "826" "0" "826" "0" "c.826del" "r.(?)" "p.(Leu276Cysfs*120)" "" "0000797463" "00014707" "90" "523" "0" "523" "0" "c.523del" "r.(?)" "p.(Leu175Cysfs*6)" "" "0000797464" "00014707" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Gln86*)" "" "0000808955" "00014707" "30" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Ala362Thr)" "" "0000808956" "00014707" "30" "510" "0" "510" "0" "c.510G>T" "r.(?)" "p.(Pro170=)" "" "0000808957" "00014707" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Thr141=)" "" "0000841619" "00014707" "90" "755" "0" "764" "0" "c.755_764del" "r.(?)" "p.(Leu252Profs*141)" "" "0000855635" "00014707" "30" "381" "0" "381" "0" "c.381C>T" "r.(?)" "p.(Pro127=)" "" "0001004903" "00014707" "30" "779" "0" "779" "0" "c.779G>C" "r.(?)" "p.(Gly260Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000297433" "0000660062" "0000297434" "0000660063" "0000297435" "0000660064" "0000297436" "0000660065" "0000297437" "0000660066" "0000297438" "0000660067" "0000383373" "0000797459" "0000383374" "0000797460" "0000383375" "0000797461" "0000383376" "0000797462" "0000383377" "0000797463" "0000383378" "0000797464" "0000405526" "0000841619"