### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NAA10) # 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}}" "NAA10" "N(alpha)-acetyltransferase 10, NatA catalytic subunit" "X" "q28" "unknown" "NG_031987.1" "UD_136089458061" "" "http://www.LOVD.nl/NAA10" "" "1" "18704" "8260" "300013" "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/NAA10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-07-14 15:57:50" "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}}" "00014226" "NAA10" "transcript variant 1" "003" "NM_003491.3" "" "NP_003482.1" "" "" "" "-250" "868" "708" "153200607" "153195280" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{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" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02193" "OGDNS;NATD" "Ogden syndrome (OGDNS, N-terminal acetyltransferase deficiency (NATD))" "XLD;XLR" "300855" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02245" "MCOPS1" "microphthalmia, syndromic, type 1 (Lenz microphthalmia syndrome)" "XL" "309800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-12-28 13:53:52" "02770" "RPIAD" "ribose-5-phosphate isomerase deficiency (RPIAD)" "AR" "608611" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-08-25 17:21:16" "03342" "EIEE5" "encephalopathy, epileptic, early infantile, type 5 (EIEE-5)" "AD" "613477" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03534" "NACED" "deficiency, N-acetylaspartate (NACED)" "AR" "614063" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NAA10" "02193" "NAA10" "02245" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{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}}" "00016948" "" "" "" "1" "" "00729" "{PMID:Popp 2015:25099252}, {DOI:Popp 2015:10.1038/ejhg.2014.150}" "" "F" "no" "Germany" ">02y11m" "0" "" "" "Europe" "" "00016949" "" "" "" "1" "" "00729" "{PMID:Popp 2015:25099252}, {DOI:Popp 2015:10.1038/ejhg.2014.150}" "" "M" "no" "Switzerland" ">05y11m" "0" "" "" "" "" "00039348" "" "" "" "1" "" "00658" "" "Developmental delay, facial dysmorphism, scoliosis, recurrent infections, long QT" "M" "no" "Ireland" "" "0" "" "" "Europe" "" "00060301" "" "" "" "1" "" "00729" "" "" "F" "no" "" "" "0" "" "" "" "" "00060302" "" "" "" "1" "" "00729" "" "" "F" "no" "" "" "0" "" "" "" "" "00060303" "" "" "" "1" "" "00729" "{PMID:Saunier 2016:27094817}, {DOI:Saunier 2016:10.1002/humu.23001}" "" "F" "no" "" "" "0" "" "" "" "" "00060304" "" "" "" "1" "" "00729" "" "" "F" "no" "" "" "0" "" "" "" "" "00060305" "" "" "" "1" "" "00729" "" "" "F" "" "" "" "0" "" "" "" "" "00060306" "" "" "" "1" "" "00729" "" "" "F" "no" "" "" "0" "" "" "" "" "00060307" "" "" "" "1" "" "00729" "" "" "F" "no" "" "" "0" "yes" "" "" "" "00060308" "" "" "" "1" "" "00729" "" "" "F" "" "" "" "0" "" "" "" "" "00060309" "" "" "" "1" "" "00729" "" "" "F" "no" "" "" "0" "" "" "" "" "00060310" "" "" "" "1" "" "00729" "" "" "F" "no" "" "" "0" "" "" "" "" "00060311" "" "" "" "1" "" "00729" "" "" "F" "no" "" "" "0" "" "" "" "" "00060312" "" "" "" "1" "" "00729" "" "" "M" "no" "" "<00y01m" "0" "" "" "" "" "00060313" "" "" "" "1" "" "00729" "" "" "M" "no" "" "" "0" "" "" "" "" "00060314" "" "" "" "1" "" "00729" "" "" "M" "no" "" "00y11m" "0" "" "" "white" "" "00063247" "" "" "" "1" "" "00729" "{PMID:Forrester 2001:11426460}" "" "M" "no" "" "" "0" "" "" "white" "" "00063248" "" "" "" "1" "" "00729" "{PMID:Forrester 2001:11426460}" "" "M" "no" "" "" "0" "" "" "white" "" "00064041" "" "" "" "1" "" "00729" "{DOI:McRae 2016:dx.doi.org/10.1101/049056}" "" "F" "no" "" "" "0" "" "" "" "" "00064042" "" "" "" "1" "" "00729" "" "" "F" "no" "" "" "0" "" "" "" "" "00064043" "" "" "" "1" "" "00729" "{DOI:McRae 2016:dx.doi.org/10.1101/049056}" "" "F" "" "" "" "0" "" "" "" "" "00064619" "" "" "" "1" "" "00729" "{DOI:McRae 2016:10.1101/049056}" "" "F" "no" "" "" "0" "" "" "" "" "00064620" "" "" "" "1" "" "00729" "{DOI:McRae 2016:10.1101/049056}" "" "F" "no" "" "" "0" "" "" "" "" "00103074" "" "" "" "2" "" "00729" "{PMID:Eldomery 2017:28327206}" "2 affected brothers" "M" "?" "" "" "0" "" "" "" "BH5665_1/_4" "00183137" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU29" "00207955" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00226142" "" "" "" "1" "" "03219" "{PMID:Shukla 2019:31247379}, {DOI:Shukla 2019:10.1016/j.ejmg.2019.103708}" "3-generation family, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "FamPatIII1" "00391874" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "108P" "00419509" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8012" "00438651" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0338" "00440354" "" "" "" "1" "" "00006" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "" "F" "" "France" "" "0" "" "" "" "Pat38;PED1342.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 40 "{{individualid}}" "{{diseaseid}}" "00016948" "00139" "00016949" "00139" "00039348" "00139" "00060301" "00139" "00060302" "00139" "00060303" "00139" "00060304" "00139" "00060305" "00139" "00060305" "02193" "00060306" "00139" "00060307" "00139" "00060307" "03534" "00060308" "00139" "00060308" "03534" "00060309" "00139" "00060309" "03534" "00060310" "00139" "00060310" "03534" "00060311" "00139" "00060311" "03534" "00060312" "03534" "00060313" "00139" "00060313" "02245" "00060314" "03534" "00063247" "00139" "00063247" "02245" "00063248" "00139" "00063248" "02245" "00064041" "00139" "00064042" "00139" "00064043" "00139" "00064619" "00139" "00064620" "00139" "00103074" "04147" "00183137" "00187" "00226142" "02770" "00391874" "03342" "00419509" "00198" "00438651" "06906" "00440354" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 02193, 02245, 02770, 03342, 03534, 04147, 05611, 06906 ## Count = 14 "{{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/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000016179" "00139" "00016948" "00729" "Isolated (sporadic)" "02y11m" "postnatal growth failure; severe developmental delay; long curved eyelashes, thin arched eyebrows, broad nasal bridge, thin arched upper lip;delayed closure of the fontanels, delayed bone age, broad great toes, mild pectus carinatum; pulmonary artery stenosis, atrial septal defect, prolonged QT interval; truncal hypotonia, hypertonia of extremities; MRI brain borderline normal ventricle; self-hugging, repetitive hand movements; no genital abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "0000016180" "00139" "00016949" "00729" "Isolated (sporadic)" "05y11m" "postnatal growth failure; severe developmental delay; prominent forehead, deep set eyes, long eyelashes, down slanting palpebral fissures, large ears, diasthema; small hands/feet, high arched palate, wide interdental spaces; no cardiac abnormalities; hypoplastic scrotum; truncal hypotonia, hypertonia of extremities, generalized epileptiform activity; MRI brain enlarged ventricles, reduced periventricular volume, gliotic changes; hyperactivity, auto-aggressive behaviour, hand biting, autistic features" "" "" "" "" "" "" "" "" "" "" "" "" "0000050817" "03534" "00060312" "00006" "Unknown" "" "affected sister with severe ID" "" "" "" "" "" "" "" "" "" "" "" "" "0000050818" "00139" "00064619" "00729" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050819" "00139" "00064620" "00729" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050820" "00139" "00060302" "00729" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050821" "00139" "00060303" "00729" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081660" "04147" "00103074" "00006" "Familial, X-linked recessive" "" "hypertrophic cardiomyopathy, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000143891" "00187" "00183137" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000155725" "00198" "00207955" "01164" "Unknown" "" "HP:0000957 (Cafe-au-lait spot); HP:0010677 (Enuresis nocturna); HP:0001250 (Seizures); HP:0012758 (Neurodevelopmental delay); HP:0001288 (Gait disturbance); HP:0011443 (Abnormality of coordination); HP:0002650 (Scoliosis)" "" "" "" "" "" "" "" "" "" "" "" "" "0000233444" "02770" "00226142" "03219" "Familial, autosomal recessive" "" "see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; no nystagmus; ataxia; spasticity; exaggerated deep tendon reflexes; extensor plantar reflex; increased urine polyol levels; retinitis pigmentosa; cerebral white matter abnormalities; no hearing loss; EEG slow right frontal discharge with epileptiform activity" "" "" "" "" "" "" "" "" "" "" "" "" "0000310790" "00198" "00419509" "02300" "Isolated (sporadic)" "6y" "" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000328554" "06906" "00438651" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000330264" "05611" "00440354" "00006" "Isolated (sporadic)" "4y" "microcephaly" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016925" "00016948" "1" "00729" "00729" "2014-06-10 11:10:33" "" "" "SEQ-NG" "DNA" "" "" "0000016926" "00016949" "1" "00729" "00729" "2014-06-10 11:27:53" "" "" "SEQ-NG" "DNA" "" "" "0000039586" "00039348" "1" "00658" "00658" "2015-06-12 18:10:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000060290" "00060301" "1" "00729" "00729" "2016-03-31 21:12:16" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000060291" "00060302" "1" "00729" "00729" "2016-03-31 21:29:56" "" "" "SEQ-PB" "DNA" "" "" "0000060292" "00060303" "1" "00729" "00729" "2016-03-31 21:42:16" "" "" "SEQ-NG" "DNA" "" "" "0000060293" "00060304" "1" "00729" "00729" "2016-03-31 21:54:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000060294" "00060305" "1" "00729" "00729" "2016-03-31 22:08:31" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060295" "00060306" "1" "00729" "00729" "2016-03-31 22:16:27" "" "" "SEQ-NG" "DNA" "" "" "0000060296" "00060307" "1" "00729" "00729" "2016-03-31 22:21:36" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000060297" "00060308" "1" "00729" "00729" "2016-03-31 22:26:36" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000060298" "00060309" "1" "00729" "00729" "2016-03-31 22:33:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000060299" "00060310" "1" "00729" "00729" "2016-03-31 22:36:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000060300" "00060311" "1" "00729" "00729" "2016-03-31 22:38:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000060301" "00060312" "1" "00729" "00729" "2016-03-31 22:50:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000060302" "00060313" "1" "00729" "00729" "2016-04-01 08:33:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000060303" "00060314" "1" "00729" "00729" "2016-04-01 08:51:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000063236" "00063247" "1" "00729" "00729" "2016-04-05 04:16:23" "" "" "SEQ" "DNA" "" "" "0000063237" "00063248" "1" "00729" "00729" "2016-04-05 04:21:39" "" "" "SEQ" "DNA" "" "" "0000064173" "00064041" "1" "00729" "00729" "2016-04-22 14:07:19" "" "" "SEQ-NG" "DNA" "" "" "0000064174" "00064042" "1" "00729" "00729" "2016-04-22 14:12:27" "" "" "SEQ-NG" "DNA" "" "" "0000064175" "00064043" "1" "00729" "00729" "2016-04-22 14:15:12" "" "" "SEQ-NG" "DNA" "" "" "0000064754" "00064619" "1" "00729" "00729" "2016-04-28 20:46:15" "" "" "SEQ-NG" "DNA" "" "" "0000064755" "00064620" "1" "00729" "00729" "2016-04-28 20:49:32" "" "" "SEQ-NG" "DNA" "" "" "0000103527" "00103074" "1" "00729" "00729" "2017-04-04 10:46:30" "" "" "SEQ-NG" "DNA" "" "" "0000184095" "00183137" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000209000" "00207955" "1" "01164" "01164" "2018-12-04 16:43:54" "" "" "SEQ-NG" "DNA" "" "" "0000227218" "00226142" "1" "03219" "03219" "2019-02-28 07:37:43" "" "" "-" "DNA" "" "" "0000393116" "00391874" "1" "02494" "02494" "2021-11-19 13:14:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000420813" "00419509" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000440133" "00438651" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000441839" "00440354" "1" "00006" "00006" "2023-11-02 11:20:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000016925" "NAA10" "0000016926" "NAA10" "0000060290" "NAA10" "0000060291" "NAA10" "0000060292" "NAA10" "0000060293" "NAA10" "0000060294" "NAA10" "0000060295" "NAA10" "0000060296" "NAA10" "0000060297" "NAA10" "0000060298" "NAA10" "0000060299" "NAA10" "0000060300" "NAA10" "0000060301" "NAA10" "0000060302" "NAA10" "0000060303" "NAA10" "0000063236" "NAA10" "0000063237" "NAA10" "0000064173" "NAA10" "0000064174" "NAA10" "0000064175" "NAA10" "0000064754" "NAA10" "0000064755" "NAA10" "0000103527" "NAA10" "0000184095" "MECP2" ## 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 = 56 "{{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}}" "0000036878" "0" "90" "X" "153197791" "153197791" "subst" "0" "00729" "NAA10_000001" "g.153197791C>T" "" "{PMID:Popp 2015:25099252}, {DOI:Popp 2015:10.1038/ejhg.2014.150}, {OMIM300013:0004}" "" "" "{CV:139643}\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "De novo" "-" "rs587780562" "0" "" "" "g.153932338C>A" "" "pathogenic" "" "0000036879" "0" "99" "X" "153197564" "153197564" "subst" "0" "00729" "NAA10_000002" "g.153197564G>A" "" "{PMID:Popp 2015:25099252}, {DOI:Popp 2015:10.1038/ejhg.2014.150}, {OMIM300013:0003}" "" "" "{CV:139644}" "De novo" "-" "rs587780563" "0" "" "" "g.153932111G>A" "" "pathogenic" "" "0000067187" "21" "90" "X" "153199447" "153199447" "subst" "0" "00658" "NAA10_000003" "g.153199447T>G" "" "{PMID:Casey et al. 2015:26522270}, {DOI:Casey et al. 2015:10.1038/srep16022}, {OMIM300013:0005}" "" "NM_001256120.1; c.128 A > C; p.(Tyr43Ser)" "{CV:218104}; hemizygous in two affected brothers, variant inherited from carrier mother, variant proven to be de novo in carrier mother who is mildly affected, normal X-inactivation in carrier mother" "Germline" "yes" "rs863225427" "0" "" "" "g.153933994T>G" "" "pathogenic" "" "0000091310" "0" "99" "X" "153197564" "153197564" "subst" "0" "00729" "NAA10_000002" "g.153197564G>A" "" "{PMID:Saunier et al. 2016:27094817}, {DOI:Saunier et al. 2016:10.1002/humu.23001}" "" "" "" "De novo" "" "" "0" "" "" "g.153932111G>A" "" "pathogenic" "" "0000091311" "0" "99" "X" "153197526" "153197526" "subst" "0" "00729" "NAA10_000004" "g.153197526A>T" "" "{PMID:Saunier et al. 2016:27094817}, {DOI:Saunier et al. 2016:10.1002/humu.23001}" "" "" "" "De novo" "" "" "0" "" "" "g.153932073A>T" "" "pathogenic" "" "0000091312" "0" "99" "X" "153197526" "153197526" "subst" "0" "00729" "NAA10_000004" "g.153197526A>T" "" "{PMID:Saunier et al. 2016:27094817}, {DOI:Saunier et al. 2016:10.1002/humu.23001}" "" "" "" "De novo" "" "" "0" "" "" "g.153932073A>T" "" "pathogenic" "" "0000091313" "0" "99" "X" "153197528" "153197528" "subst" "0" "00729" "NAA10_000005" "g.153197528A>T" "" "{PMID:Saunier et al. 2016:27094817}, {DOI:Saunier et al. 2016:10.1002/humu.23001}" "" "NM_001256120.1: c.364A>T; p.Phe122Ile" "" "De novo" "" "" "0" "" "" "g.153932075A>T" "" "pathogenic" "" "0000091314" "0" "99" "X" "153197863" "153197863" "subst" "0" "00729" "NAA10_000006" "g.153197863G>A" "" "{PMID:Saunier et al. 2016:27094817}, {DOI:Saunier et al. 2016:10.1002/humu.23001}" "" "" "{CV:208664}" "De novo" "" "rs797044868" "0" "" "" "g.153932410G>A" "" "pathogenic" "" "0000091315" "0" "99" "X" "153197863" "153197863" "subst" "0" "00729" "NAA10_000006" "g.153197863G>A" "" "{PMID:Saunier et al. 2016:27094817}, {DOI:Saunier et al. 2016:10.1002/humu.23001}" "" "" "{CV:208664}" "De novo" "" "rs797044868" "0" "" "" "g.153932410G>A" "" "pathogenic" "" "0000091316" "0" "99" "X" "153197863" "153197863" "subst" "0" "00729" "NAA10_000006" "g.153197863G>A" "" "{PMID:Saunier et al. 2016:27094817}, {DOI:Saunier et al. 2016:10.1002/humu.23001}" "" "" "{CV:208664}" "De novo" "" "rs797044868" "0" "" "" "g.153932410G>A" "" "pathogenic" "" "0000091317" "0" "99" "X" "153197863" "153197863" "subst" "0" "00729" "NAA10_000006" "g.153197863G>A" "" "{PMID:Saunier et al. 2016:27094817}, {DOI:Saunier et al. 2016:10.1002/humu.23001}" "" "" "{CV:208664}" "De novo" "" "rs797044868" "0" "" "" "g.153932410G>A" "" "pathogenic" "" "0000091318" "0" "99" "X" "153197863" "153197863" "subst" "0" "00729" "NAA10_000006" "g.153197863G>A" "" "{PMID:Saunier et al. 2016:27094817}, {DOI:Saunier et al. 2016:10.1002/humu.23001}" "" "" "{CV:208664}" "De novo" "" "rs797044868" "0" "" "" "g.153932410G>A" "" "pathogenic" "" "0000091319" "0" "99" "X" "153197863" "153197863" "subst" "0" "00729" "NAA10_000006" "g.153197863G>A" "" "{PMID:Saunier et al. 2016:27094817}, {DOI:Saunier et al. 2016:10.1002/humu.23001}" "" "" "{CV:208664}" "De novo" "" "rs797044868" "0" "" "" "g.153932410G>A" "" "pathogenic" "" "0000091320" "0" "99" "X" "153197863" "153197863" "subst" "0" "00729" "NAA10_000006" "g.153197863G>A" "" "{PMID:Saunier et al. 2016:27094817}, {DOI:Saunier et al. 2016:10.1002/humu.23001}" "" "" "{CV:208664}; germline mosaicism in mother; more severely affected and deceased (age of one week) brother; maternal germline mosaicism was assumed \r\nbecause exome data did not reveal the mutation in the mother’s blood sample and because of recurrence in a third pregnancy terminated after prenatal diagnosis." "Germline" "" "rs797044868" "0" "" "" "g.153932410G>A" "" "pathogenic" "" "0000091321" "20" "99" "X" "153197863" "153197863" "subst" "0" "00729" "NAA10_000006" "g.153197863G>A" "" "{PMID:Saunier et al. 2016:27094817}, {DOI:Saunier et al. 2016:10.1002/humu.23001}" "" "" "{CV:208664}; maternal germline mosaicism assumed because exome data did not reveal the varaitn in the mother’s blood sample and because of recurrence in a third pregnancy terminated after prenatal diagnosis." "Germline" "" "rs797044868" "0" "" "" "g.153932410G>A" "" "pathogenic" "" "0000091322" "0" "99" "X" "153196214" "153196214" "subst" "0" "00729" "NAA10_000007" "g.153196214A>T" "" "{PMID:Esmailpour et al. 2014:24431331}, {DOI:Esmailpour et al. 2014:10.1136/jmedgenet-2013-101660}, {OMIM300013:0002}" "" "" "{CV:102423}" "Germline" "yes" "rs587776457" "0" "" "" "g.153930761A>T" "" "pathogenic" "" "0000091323" "0" "99" "X" "153199841" "153199841" "subst" "0" "00729" "NAA10_000008" "g.153199841A>G" "" "{PMID:Rope et al. 2011:21700266}, {DOI:Rope et al. 2011:10.1016/j.ajhg.2011.05.017}, {OMIM300013:0001}" "" "" "{CV:29927}; Rope 2011 described eight affected boys from two independent families with the exact same inherited c.109T>C p.(Ser37Pro) variant in hemizygous state leading to a highly recognizable phenotype." "Germline" "yes" "rs387906701" "0" "" "" "g.153934388A>G" "" "pathogenic" "" "0000094259" "0" "99" "X" "153196214" "153196214" "subst" "0" "00729" "NAA10_000007" "g.153196214A>T" "" "{PMID:Esmailpour et al. 2014:24431331}, {DOI:Esmailpour et al. 2014:10.1136/jmedgenet-2013-101660}, {OMIM300013:0002}" "" "" "{CV:102423}" "Germline" "yes" "rs587776457" "0" "" "" "g.153930761A>T" "" "pathogenic" "" "0000094260" "21" "99" "X" "153196214" "153196214" "subst" "0" "00729" "NAA10_000007" "g.153196214A>T" "" "{PMID:Esmailpour et al. 2014:24431331}, {DOI:Esmailpour et al. 2014:10.1136/jmedgenet-2013-101660}, {OMIM300013:0002}" "" "" "{CV:102423}" "Germline" "yes" "rs587776457" "0" "" "" "g.153930761A>T" "" "pathogenic" "" "0000095142" "0" "99" "X" "153197863" "153197863" "subst" "0" "00729" "NAA10_000006" "g.153197863G>A" "" "{DOI:McRae et al. 2016:10.1101/049056}" "" "" "{CV:208664}" "De novo" "yes" "rs797044868" "0" "" "" "g.153932410G>A" "" "pathogenic" "" "0000095143" "0" "99" "X" "153197526" "153197526" "subst" "0" "00729" "NAA10_000004" "g.153197526A>T" "" "{DOI:McRae et al. 2016:10.1101/049056}" "" "" "" "De novo" "yes" "" "0" "" "" "g.153932073A>T" "" "pathogenic" "" "0000095144" "0" "00" "X" "153197865" "153197865" "subst" "0" "00729" "NAA10_000009" "g.153197865C>T" "" "{DOI:McRae et al. 2016:10.1101/049056}" "" "" "" "De novo" "yes" "" "0" "" "" "g.153932412C>T" "" "" "" "0000096168" "0" "99" "X" "153197863" "153197863" "subst" "0" "00729" "NAA10_000006" "g.153197863G>A" "" "{DOI:McRae et al. 2016:10.1101/049056}" "" "" "{CV:208664}" "De novo" "yes" "rs797044868" "0" "" "" "g.153932410G>A" "" "pathogenic" "" "0000096169" "0" "55" "X" "153197551" "153197551" "subst" "0" "00729" "NAA10_000010" "g.153197551T>G" "" "{DOI:McRae et al. 2016:10.1101/049056}" "" "" "" "De novo" "" "" "0" "" "" "g.153932098T>G" "" "VUS" "" "0000166953" "20" "99" "X" "153198002" "153198002" "subst" "0" "00729" "NAA10_000011" "g.153198002A>G" "" "{PMID:Eldomery et al. 2017:28327206}, {DOI:Eldomery et al. 2017:10.1186/s13073-017-0412-6}, {CV:375388}" "" "c.215T>C\tp.I72T" "Reported in Suppl. file 3 (13073_2017_412_MOESM3_ESM.xlsx).\r\nFound to segregate in two affected brothers with DD and hypertrophic cardiomyopathy." "Germline" "yes" "rs1057519448" "0" "" "" "g.153932549A>G" "" "likely pathogenic" "" "0000302843" "0" "90" "X" "153197863" "153197863" "subst" "0" "01943" "NAA10_000006" "g.153197863G>A" "" "" "" "NAA10(NM_003491.3):c.247C>T (p.R83C), NAA10(NM_003491.4):c.247C>T (p.R83C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153932410G>A" "" "pathogenic" "" "0000336123" "0" "50" "X" "153196209" "153196209" "subst" "1.68099E-5" "01804" "NAA10_000012" "g.153196209C>T" "" "" "" "NAA10(NM_001256119.1):c.426+7G>A (p.(=)), NAA10(NM_003491.3):c.471+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153930756C>T" "" "VUS" "" "0000336124" "0" "50" "X" "153200861" "153200861" "subst" "0.00697006" "01804" "RENBP_000005" "g.153200861C>T" "" "" "" "RENBP(NM_002910.5):c.1166-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153935408C>T" "" "VUS" "" "0000343411" "0" "90" "X" "153197863" "153197863" "subst" "0" "02327" "NAA10_000006" "g.153197863G>A" "" "" "" "NAA10(NM_003491.3):c.247C>T (p.R83C), NAA10(NM_003491.4):c.247C>T (p.R83C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153932410G>A" "" "pathogenic" "" "0000348553" "0" "30" "X" "153198014" "153198014" "subst" "0" "02327" "NAA10_000013" "g.153198014G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153932561G>A" "" "likely benign" "" "0000350040" "0" "50" "X" "153199858" "153199858" "subst" "0" "02327" "NAA10_000014" "g.153199858T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153934405T>C" "" "VUS" "" "0000408064" "21" "90" "X" "152710806" "153609906" "dup" "0" "00006" "MECP2_002820" "g.152710806_153609906dup" "" "{PMID:Hu 2016:25644381}" "" "MECP2" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000439072" "0" "70" "X" "153197564" "153197564" "subst" "0" "01164" "NAA10_000002" "g.153197564G>A" "" "" "" "" "ACMG grading: PM2,PS2,PP5; Valentine ; 2018. Seizure 60: 120 de novo detected in a case presenting with epilepsy with eyelid myoclonias (AKA Jeavons syndrome) Popp ; 2015. Eur 23: 602 De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in a boy" "Germline" "" "rs587780563" "0" "" "" "g.153932111G>A" "" "likely pathogenic" "ACMG" "0000574457" "0" "50" "X" "153191641" "153191641" "subst" "0" "01943" "ARHGAP4_000078" "g.153191641T>A" "" "" "" "ARHGAP4(NM_001164741.1):c.16A>T (p.K6*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153926187T>A" "" "VUS" "" "0000574458" "0" "30" "X" "153196209" "153196209" "subst" "1.68099E-5" "01943" "NAA10_000012" "g.153196209C>T" "" "" "" "NAA10(NM_001256119.1):c.426+7G>A (p.(=)), NAA10(NM_003491.3):c.471+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153930756C>T" "" "likely benign" "" "0000574459" "0" "50" "X" "153196242" "153196242" "subst" "0" "02327" "ARHGAP4_000079" "g.153196242G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153930789G>A" "" "VUS" "" "0000574460" "0" "90" "X" "153197526" "153197526" "subst" "0" "02327" "RENBP_000008" "g.153197526A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153932073A>C" "" "pathogenic" "" "0000574461" "0" "90" "X" "153197564" "153197564" "subst" "0" "02327" "NAA10_000002" "g.153197564G>A" "" "" "" "NAA10(NM_003491.4):c.346C>T (p.R116W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153932111G>A" "" "pathogenic" "" "0000574462" "0" "90" "X" "153197564" "153197564" "subst" "0" "02325" "NAA10_000002" "g.153197564G>A" "" "" "" "NAA10(NM_003491.4):c.346C>T (p.R116W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153932111G>A" "" "pathogenic" "" "0000574463" "0" "70" "X" "153197564" "153197564" "subst" "0" "02326" "NAA10_000002" "g.153197564G>A" "" "" "" "NAA10(NM_003491.4):c.346C>T (p.R116W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153932111G>A" "" "likely pathogenic" "" "0000574464" "0" "30" "X" "153197573" "153197573" "subst" "0.000106288" "01943" "RENBP_000009" "g.153197573A>G" "" "" "" "NAA10(NM_003491.3):c.342-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153932120A>G" "" "likely benign" "" "0000574465" "0" "50" "X" "153197875" "153197875" "subst" "0" "02327" "RENBP_000010" "g.153197875G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153932422G>A" "" "VUS" "" "0000574466" "0" "50" "X" "153199918" "153199918" "subst" "0" "01943" "RENBP_000011" "g.153199918A>C" "" "" "" "NAA10(NM_003491.3):c.32T>G (p.L11R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153934465A>C" "" "VUS" "" "0000659168" "0" "90" "X" "153197863" "153197863" "subst" "0" "02325" "NAA10_000006" "g.153197863G>A" "" "" "" "NAA10(NM_003491.3):c.247C>T (p.R83C), NAA10(NM_003491.4):c.247C>T (p.R83C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153932410G>A" "" "pathogenic" "" "0000683660" "20" "30" "X" "153199376" "153199376" "subst" "0.00122751" "00006" "NAA10_000015" "g.153199376C>T" "" "{PMID:Shukla 2019:31247379}, {DOI:Shukla 2019:10.1016/j.ejmg.2019.103708}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000728588" "0" "30" "X" "153195571" "153195571" "subst" "2.24417E-5" "01943" "ARHGAP4_000108" "g.153195571C>G" "" "" "" "NAA10(NM_003491.3):c.577G>C (p.A193P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728589" "0" "30" "X" "153195656" "153195656" "subst" "0" "01943" "ARHGAP4_000109" "g.153195656C>T" "" "" "" "NAA10(NM_003491.3):c.492G>A (p.L164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810082" "0" "50" "X" "153199915" "153199915" "subst" "0" "02327" "RENBP_000016" "g.153199915A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823733" "0" "70" "X" "153197799" "153197799" "subst" "0" "02494" "NAA10_000016" "g.153197799G>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856428" "0" "30" "X" "153195550" "153195550" "subst" "2.80244E-5" "01943" "ARHGAP4_000121" "g.153195550G>A" "" "" "" "NAA10(NM_003491.3):c.598C>T (p.L200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881172" "0" "70" "X" "153199835" "153199835" "subst" "0" "02300" "NAA10_000017" "g.153199835G>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline/De novo (untested)" "" "rs1603290816" "0" "" "" "g.153934382G>T" "" "likely pathogenic" "ACMG" "0000936426" "0" "90" "X" "153197863" "153197863" "subst" "0" "00006" "NAA10_000006" "g.153197863G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_003491:c.C247T (R83C)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000939776" "0" "90" "X" "153197528" "153197528" "subst" "0" "00006" "NAA10_000005" "g.153197528A>T" "" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "" "NM_001256120.1:c.364A>T (Phe122Ile)" "" "De novo" "" "" "0" "" "" "g.153932075A>T" "" "likely pathogenic (dominant)" "" "0001015999" "0" "70" "X" "153196275" "153196275" "subst" "0" "02327" "ARHGAP4_000131" "g.153196275A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027453" "0" "90" "X" "153197863" "153197863" "subst" "0" "02329" "NAA10_000006" "g.153197863G>A" "" "" "" "NAA10(NM_003491.3):c.247C>T (p.R83C), NAA10(NM_003491.4):c.247C>T (p.R83C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001044187" "0" "50" "X" "153195564" "153195564" "subst" "5.60934E-6" "01804" "ARHGAP4_000132" "g.153195564C>A" "" "" "" "NAA10(NM_003491.4):c.584G>T (p.(Arg195Leu))" "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 NAA10 ## Count = 56 "{{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}}" "0000036878" "00014226" "99" "319" "0" "319" "0" "c.319G>T" "r.(?)" "p.(Val107Phe)" "5" "0000036879" "00014226" "99" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Trp)" "6" "0000067187" "00014226" "99" "128" "0" "128" "0" "c.128A>C" "r.(?)" "p.(Tyr43Ser)" "3" "0000091310" "00014226" "99" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Trp)" "6" "0000091311" "00014226" "99" "384" "0" "384" "0" "c.384T>A" "r.(?)" "p.(Phe128Leu)" "6" "0000091312" "00014226" "99" "384" "0" "384" "0" "c.384T>A" "r.(?)" "p.(Phe128Leu)" "6" "0000091313" "00014226" "99" "382" "0" "382" "0" "c.382T>A" "r.(?)" "p.(Phe128Ile)" "6" "0000091314" "00014226" "99" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "5" "0000091315" "00014226" "99" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "5" "0000091316" "00014226" "99" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "5" "0000091317" "00014226" "99" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "5" "0000091318" "00014226" "99" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "5" "0000091319" "00014226" "99" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "5" "0000091320" "00014226" "99" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "5" "0000091321" "00014226" "99" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "5" "0000091322" "00014226" "99" "471" "2" "471" "2" "c.471+2T>A" "r.[471_472ins471+1_472-1, 471_472ins471+1_471+27]" "p.[Leu158Valfs*46, Glu157_Leu158ins9]" "7" "0000091323" "00014226" "99" "109" "0" "109" "0" "c.109T>C" "r.(?)" "p.(Ser37Pro)" "2" "0000094259" "00014226" "99" "471" "2" "471" "2" "c.471+2T>A" "r.[471_472ins471+1_472-1, 471_472ins471+1_471+27]" "p.[Leu158Valfs*46, Glu157_Leu158ins9]" "7" "0000094260" "00014226" "99" "471" "2" "471" "2" "c.471+2T>A" "r.[471_472ins471+1_472-1, 471_472ins471+1_471+27]" "p.[Leu158Valfs*46, Glu157_Leu158ins9]" "7" "0000095142" "00014226" "99" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "5" "0000095143" "00014226" "99" "384" "0" "384" "0" "c.384T>A" "r.(?)" "p.(Phe128Leu)" "6" "0000095144" "00014226" "55" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "5" "0000096168" "00014226" "99" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "5" "0000096169" "00014226" "55" "359" "0" "359" "0" "c.359A>C" "r.(?)" "p.(His120Pro)" "6" "0000166953" "00014226" "99" "215" "0" "215" "0" "c.215T>C" "r.(?)" "p.(Ile72Thr)" "4" "0000302843" "00014226" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "" "0000336123" "00014226" "50" "471" "7" "471" "7" "c.471+7G>A" "r.(=)" "p.(=)" "" "0000336124" "00014226" "50" "-504" "0" "-504" "0" "c.-504G>A" "r.(?)" "p.(=)" "" "0000343411" "00014226" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "" "0000348553" "00014226" "30" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "" "0000350040" "00014226" "50" "92" "0" "92" "0" "c.92A>G" "r.(?)" "p.(Tyr31Cys)" "" "0000408064" "00014226" "00" "-409549" "0" "485342" "0" "c.-409549_*484634dup" "r.0?" "p.0?" "" "0000439072" "00014226" "70" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.Arg116Trp" "" "0000574457" "00014226" "50" "4507" "0" "4507" "0" "c.*3799A>T" "r.(=)" "p.(=)" "" "0000574458" "00014226" "30" "471" "7" "471" "7" "c.471+7G>A" "r.(=)" "p.(=)" "" "0000574459" "00014226" "50" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" "" "0000574460" "00014226" "90" "384" "0" "384" "0" "c.384T>G" "r.(?)" "p.(Phe128Leu)" "" "0000574461" "00014226" "90" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Trp)" "" "0000574462" "00014226" "90" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Trp)" "" "0000574463" "00014226" "70" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Trp)" "" "0000574464" "00014226" "30" "342" "-5" "342" "-5" "c.342-5T>C" "r.spl?" "p.?" "" "0000574465" "00014226" "50" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "0000574466" "00014226" "50" "32" "0" "32" "0" "c.32T>G" "r.(?)" "p.(Leu11Arg)" "" "0000659168" "00014226" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "" "0000683660" "00014226" "30" "179" "20" "179" "20" "c.179+20G>A" "r.(=)" "p.(=)" "" "0000728588" "00014226" "30" "577" "0" "577" "0" "c.577G>C" "r.(?)" "p.(Ala193Pro)" "" "0000728589" "00014226" "30" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Leu164=)" "" "0000810082" "00014226" "50" "35" "0" "35" "0" "c.35T>G" "r.(?)" "p.(Met12Arg)" "" "0000823733" "00014226" "70" "311" "0" "311" "0" "c.311C>A" "r.(?)" "p.(Ala104Asp)" "" "0000856428" "00014226" "30" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Leu200=)" "" "0000881172" "00014226" "70" "115" "0" "115" "0" "c.115C>A" "r.(?)" "p.(Pro39Thr)" "" "0000936426" "00014226" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "" "0000939776" "00014226" "90" "382" "0" "382" "0" "c.382T>A" "r.(?)" "p.(Phe128Ile)" "" "0001015999" "00014226" "70" "412" "0" "412" "0" "c.412T>C" "r.(?)" "p.(Tyr138His)" "" "0001027453" "00014226" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "" "0001044187" "00014226" "50" "584" "0" "584" "0" "c.584G>T" "r.(?)" "p.(Arg195Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000016925" "0000036878" "0000016926" "0000036879" "0000039586" "0000067187" "0000060290" "0000091310" "0000060291" "0000091311" "0000060292" "0000091312" "0000060293" "0000091313" "0000060294" "0000091314" "0000060295" "0000091315" "0000060296" "0000091316" "0000060297" "0000091317" "0000060298" "0000091318" "0000060299" "0000091319" "0000060300" "0000091320" "0000060301" "0000091321" "0000060302" "0000091322" "0000060303" "0000091323" "0000063236" "0000094259" "0000063237" "0000094260" "0000064173" "0000095142" "0000064174" "0000095143" "0000064175" "0000095144" "0000064754" "0000096168" "0000064755" "0000096169" "0000103527" "0000166953" "0000184095" "0000408064" "0000209000" "0000439072" "0000227218" "0000683660" "0000393116" "0000823733" "0000420813" "0000881172" "0000440133" "0000936426" "0000441839" "0000939776"