### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NADSYN1) # 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}}" "NADSYN1" "NAD synthetase 1" "11" "q13.4" "unknown" "NC_000011.9" "UD_132319500778" "" "https://www.LOVD.nl/NADSYN1" "" "1" "29832" "55191" "608285" "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/NADSYN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-12-02 09:14:14" "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}}" "00014254" "NADSYN1" "NAD synthetase 1" "001" "NM_018161.4" "" "NP_060631.2" "" "" "" "-126" "2307" "2121" "71164217" "71212584" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32" "05680" "VCRL" "vertebral, cardiac, renal, and limb defects syndrome (VCRL)" "XLR" "" "" "" "" "00006" "2020-01-06 15:52:43" "00006" "2021-12-10 21:51:32" "05882" "VCRL3" "vertebral, cardiac, renal, and limb defects syndrome, type 3 (VCRL3)" "AR" "618845" "" "" "" "00006" "2020-12-02 09:14:02" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NADSYN1" "05680" "NADSYN1" "05882" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00180695" "" "" "" "908" "" "02555" "{PMID:Yang 2014:24184224}" "Chinese Han cohort" "F;M" "" "China" "" "0" "{DB:Uveo3147?snp=rs12785878&t=1535704263}" "" "Chinese Han" "" "00275603" "" "" "" "2" "" "00006" "{PMID:Szot 2020:31883644}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam1PatII1" "00275604" "" "" "00275603" "1" "" "00006" "{PMID:Szot 2020:31883644}" "sister" "F" "" "" "" "0" "" "" "" "Fam1PatII2" "00275605" "" "" "" "1" "" "00006" "{PMID:Szot 2020:31883644}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam2PatII1" "00275606" "" "" "" "1" "" "00006" "{PMID:Szot 2020:31883644}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam3PatII4" "00275607" "" "" "" "1" "" "00006" "{PMID:Szot 2020:31883644}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam4PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00180695" "05467" "00275603" "00198" "00275604" "00198" "00275605" "00198" "00275606" "00198" "00275607" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05467, 05680, 05882 ## Count = 6 "{{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}}" "0000143090" "05467" "00180695" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000210214" "00198" "00275603" "00006" "Familial, autosomal recessive" "" "see paper; ...,, thoracic vertebral defect; hypoplastic mitral valve with borderline hypoplastic left ventricle, small bicuspid aortic valve and tubular hyperplasia of the left aortic arch with coarctation, anomalous origin of the left coronary artery from the right pulmonary artery; absent left kidney; bilateral shortening of humeri and femora; sacral dimple" "" "" "" "" "" "" "" "" "VCRL3" "multiple organ defects" "" "0000210215" "00198" "00275604" "00006" "Familial, autosomal recessive" "" "see paper; ..., multiple segmentation and formation defects of the thoracic, lumbar, and sacral spine; absent left ventricle and pulmonary trunk, right ventricular outlet to the aorta; bilateral hypoplastic kidneys; short humeri and femora" "" "" "" "" "" "" "" "" "VCRL3" "multiple organ defects" "" "0000210216" "00198" "00275605" "00006" "Familial, autosomal recessive" "" "see paper; ..., scoliosis with multiple malformed vertebral anomalies and rib abnormalities; double outlet right ventricle, transposition of the great arteries in side by side orientation, doubly committed ventricular septal defect, bidirectional patent ductus arteriosu, left aortic arch; mild hyperechoic renal cortex; birth length: 45.5 cm, short proximal long bones, bowing of lower extremities; closed sacral dimple with tuft of hair" "" "" "" "" "" "" "" "" "VCRL3" "multiple organ defects" "" "0000210217" "00198" "00275606" "00006" "Familial, autosomal recessive" "" "see paper; ..., oligohydramnios, bilateral renal agenesis" "" "" "" "" "" "" "" "" "VCRL3" "multiple organ defects" "" "0000210218" "00198" "00275607" "00006" "Familial, autosomal recessive" "" "see paper; ..., left renal and ureter agenesis; micromelia, bilateral club feet; hydrocephalus, small thorax, echogenic bowel, flat nose and low set ears, edema, polysplenia, pulmonary hypoplasia" "" "" "" "" "" "" "" "" "VCRL3" "multiple organ defects" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181632" "00180695" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000276761" "00275603" "1" "00006" "00006" "2020-01-11 09:04:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276762" "00275604" "1" "00006" "00006" "2020-01-11 09:04:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276763" "00275605" "1" "00006" "00006" "2020-01-11 09:04:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276764" "00275606" "1" "00006" "00006" "2020-01-11 09:04:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276765" "00275607" "1" "00006" "00006" "2020-01-11 09:04:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000181632" "DHCR7" "0000276761" "NADSYN1" "0000276762" "NADSYN1" "0000276763" "NADSYN1" "0000276764" "NADSYN1" "0000276765" "NADSYN1" ## 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 = 38 "{{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}}" "0000405328" "0" "50" "11" "71167449" "71167449" "subst" "0" "02555" "NADSYN1_000001" "g.71167449G>A" "908/1654 cases" "{PMID:Yang 2014:24184224}" "" "" "{DB:Uveo3147?snp=rs12785878&t=1535704263}" "Germline" "" "rs12785878" "0" "" "" "g.71456403G>A" "" "VUS" "" "0000545629" "0" "50" "11" "71164426" "71164426" "subst" "0.000107314" "01804" "DHCR7_000269" "g.71164426G>T" "" "" "" "NADSYN1(NM_018161.4):c.84G>T (p.(Lys28Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71453380G>T" "" "VUS" "" "0000630895" "3" "90" "11" "71202902" "71202902" "subst" "0.000671239" "00006" "NADSYN1_000002" "g.71202902G>A" "" "{PMID:Szot 2020:31883644}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71491856G>A" "" "pathogenic (recessive)" "" "0000630896" "3" "90" "11" "71202902" "71202902" "subst" "0.000671239" "00006" "NADSYN1_000002" "g.71202902G>A" "" "{PMID:Szot 2020:31883644}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71491856G>A" "" "pathogenic (recessive)" "" "0000630897" "11" "90" "11" "71202902" "71202902" "subst" "0.000671239" "00006" "NADSYN1_000002" "g.71202902G>A" "" "{PMID:Szot 2020:31883644}" "" "" "" "Germline" "" "" "0" "" "" "g.71491856G>A" "" "pathogenic (recessive)" "" "0000630898" "11" "90" "11" "71166215" "71166215" "subst" "8.13392E-6" "00006" "NADSYN1_000004" "g.71166215T>C" "" "{PMID:Szot 2020:31883644}" "" "" "" "Germline" "" "" "0" "" "" "g.71455169T>C" "" "pathogenic (recessive)" "" "0000630899" "11" "90" "11" "71208603" "71208603" "subst" "0" "00006" "NADSYN1_000006" "g.71208603C>G" "" "{PMID:Szot 2020:31883644}" "" "" "" "Germline" "" "" "0" "" "" "g.71497557C>G" "" "pathogenic (recessive)" "" "0000630900" "21" "90" "11" "71208583" "71208583" "del" "0" "00006" "NADSYN1_000003" "g.71208583del" "" "{PMID:Szot 2020:31883644}" "" "" "" "Germline" "" "" "0" "" "" "g.71497537del" "" "pathogenic (recessive)" "" "0000630901" "21" "90" "11" "71175176" "71175176" "subst" "0.00050247" "00006" "NADSYN1_000005" "g.71175176G>T" "" "{PMID:Szot 2020:31883644}" "" "" "" "Germline" "" "" "0" "" "" "g.71464130G>T" "" "pathogenic (recessive)" "" "0000630902" "21" "90" "11" "71185509" "71185509" "subst" "0" "00006" "NADSYN1_000007" "g.71185509T>A" "" "{PMID:Szot 2020:31883644}" "" "" "" "Germline" "" "" "0" "" "" "g.71474463T>A" "" "pathogenic (recessive)" "" "0000853163" "0" "90" "11" "71196591" "71196591" "subst" "0" "02325" "NADSYN1_000008" "g.71196591C>T" "" "" "" "NADSYN1(NM_018161.5):c.1459C>T (p.R487*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853164" "0" "90" "11" "71202902" "71202902" "subst" "0.000671239" "02325" "NADSYN1_000002" "g.71202902G>A" "" "" "" "NADSYN1(NM_018161.5):c.1717G>A (p.(Ala573Thr), p.A573T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929975" "0" "30" "11" "71175174" "71175174" "subst" "0.00180622" "02326" "NADSYN1_000009" "g.71175174G>A" "" "" "" "NADSYN1(NM_018161.5):c.393G>A (p.P131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929976" "0" "10" "11" "71208651" "71208651" "subst" "0.00370069" "02326" "NADSYN1_000010" "g.71208651G>A" "" "" "" "NADSYN1(NM_018161.5):c.1887G>A (p.P629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949793" "0" "30" "11" "71208537" "71208537" "subst" "0.00217716" "01804" "NADSYN1_000011" "g.71208537G>A" "" "" "" "NADSYN1(NM_018161.4):c.1773G>A (p.(Met591Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949794" "0" "50" "11" "71209482" "71209482" "subst" "6.09132E-5" "01804" "NADSYN1_000012" "g.71209482G>A" "" "" "" "NADSYN1(NM_018161.4):c.1978G>A (p.(Glu660Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979857" "0" "50" "11" "71164364" "71164364" "subst" "0.000229198" "01804" "DHCR7_000293" "g.71164364G>A" "" "" "" "NADSYN1(NM_018161.5):c.22G>A (p.(Ala8Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979858" "0" "30" "11" "71169475" "71169475" "subst" "0.000613437" "01804" "NADSYN1_000013" "g.71169475G>A" "" "" "" "NADSYN1(NM_018161.5):c.148G>A (p.(Gly50Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979859" "0" "50" "11" "71174492" "71174492" "subst" "2.0316E-5" "01804" "NADSYN1_000014" "g.71174492G>A" "" "" "" "NADSYN1(NM_018161.5):c.278G>A (p.(Arg93Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979860" "0" "50" "11" "71175179" "71175179" "subst" "0" "01804" "NADSYN1_000015" "g.71175179C>T" "" "" "" "NADSYN1(NM_018161.5):c.398C>T (p.(Ser133Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979861" "0" "30" "11" "71192453" "71192453" "subst" "4.06078E-6" "01804" "NADSYN1_000016" "g.71192453A>G" "" "" "" "NADSYN1(NM_018161.5):c.1047+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979862" "0" "50" "11" "71195477" "71195477" "subst" "4.07246E-5" "01804" "NADSYN1_000017" "g.71195477C>T" "" "" "" "NADSYN1(NM_018161.5):c.1439C>T (p.(Ala480Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979863" "0" "90" "11" "71202902" "71202902" "subst" "0.000671239" "02329" "NADSYN1_000002" "g.71202902G>A" "" "" "" "NADSYN1(NM_018161.5):c.1717G>A (p.(Ala573Thr), p.A573T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979864" "0" "50" "11" "71202948" "71202948" "subst" "1.22226E-5" "01804" "NADSYN1_000018" "g.71202948A>T" "" "" "" "NADSYN1(NM_018161.5):c.1763A>T (p.(Glu588Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979865" "0" "50" "11" "71209438" "71209438" "subst" "2.43883E-5" "01804" "NADSYN1_000019" "g.71209438T>A" "" "" "" "NADSYN1(NM_018161.5):c.1934T>A (p.(Met645Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979866" "0" "70" "11" "71209518" "71209518" "subst" "3.65479E-5" "02329" "NADSYN1_000020" "g.71209518C>T" "" "" "" "NADSYN1(NM_018161.5):c.2014C>T (p.R672*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001038739" "0" "50" "11" "71174500" "71174500" "subst" "8.12698E-6" "01804" "NADSYN1_000021" "g.71174500C>T" "" "" "" "NADSYN1(NM_018161.5):c.286C>T (p.(Arg96Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038740" "0" "50" "11" "71183521" "71183521" "subst" "0.000288306" "01804" "NADSYN1_000022" "g.71183521G>A" "" "" "" "NADSYN1(NM_018161.5):c.434G>A (p.(Arg145Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038741" "0" "50" "11" "71184617" "71184617" "subst" "3.69975E-5" "01804" "NADSYN1_000023" "g.71184617C>T" "" "" "" "NADSYN1(NM_018161.5):c.551C>T (p.(Pro184Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038742" "0" "30" "11" "71185438" "71185438" "subst" "4.06088E-6" "01804" "NADSYN1_000024" "g.71185438C>T" "" "" "" "NADSYN1(NM_018161.5):c.667-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038743" "0" "30" "11" "71192427" "71192427" "subst" "0.000154305" "01804" "NADSYN1_000025" "g.71192427G>A" "" "" "" "NADSYN1(NM_018161.5):c.1024G>A (p.(Asp342Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038744" "0" "30" "11" "71192960" "71192960" "subst" "0.000121209" "01804" "NADSYN1_000026" "g.71192960C>T" "" "" "" "NADSYN1(NM_018161.5):c.1048-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038745" "0" "50" "11" "71193975" "71193975" "subst" "4.06666E-6" "01804" "NADSYN1_000027" "g.71193975C>T" "" "" "" "NADSYN1(NM_018161.5):c.1231C>T (p.(Arg411Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038746" "0" "50" "11" "71195468" "71195468" "subst" "0" "01804" "NADSYN1_000028" "g.71195468A>G" "" "" "" "NADSYN1(NM_018161.5):c.1430A>G (p.(Glu477Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038747" "0" "50" "11" "71202891" "71202891" "subst" "1.62784E-5" "01804" "NADSYN1_000029" "g.71202891C>T" "" "" "" "NADSYN1(NM_018161.5):c.1706C>T (p.(Ala569Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038748" "0" "90" "11" "71202902" "71202902" "subst" "0.000671239" "01804" "NADSYN1_000002" "g.71202902G>A" "" "" "" "NADSYN1(NM_018161.5):c.1717G>A (p.(Ala573Thr), p.A573T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038749" "0" "50" "11" "71208522" "71208522" "subst" "0.000292666" "01804" "NADSYN1_000030" "g.71208522T>A" "" "" "" "NADSYN1(NM_018161.5):c.1765-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038750" "0" "50" "11" "71208554" "71208554" "subst" "4.06068E-5" "01804" "NADSYN1_000031" "g.71208554A>C" "" "" "" "NADSYN1(NM_018161.5):c.1790A>C (p.(Glu597Ala))" "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 NADSYN1 ## Count = 38 "{{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}}" "0000405328" "00014254" "50" "146" "1233" "146" "1233" "c.146+1233G>A" "r.(=)" "p.(=)" "" "0000545629" "00014254" "50" "84" "0" "84" "0" "c.84G>T" "r.(?)" "p.(Lys28Asn)" "" "0000630895" "00014254" "90" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Ala573Thr)" "" "0000630896" "00014254" "90" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Ala573Thr)" "" "0000630897" "00014254" "90" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Ala573Thr)" "" "0000630898" "00014254" "90" "145" "0" "145" "0" "c.145T>C" "r.(?)" "p.(Cys49Arg)" "" "0000630899" "00014254" "90" "1839" "0" "1839" "0" "c.1839C>G" "r.(?)" "p.(Tyr613*)" "" "0000630900" "00014254" "90" "1819" "0" "1819" "0" "c.1819del" "r.(?)" "p.(Val607Trpfs*30)" "" "0000630901" "00014254" "90" "395" "0" "395" "0" "c.395G>T" "r.(?)" "p.(Trp132Leu)" "" "0000630902" "00014254" "90" "735" "0" "735" "0" "c.735T>A" "r.(?)" "p.(Cys245*)" "" "0000853163" "00014254" "90" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Arg487*)" "" "0000853164" "00014254" "90" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Ala573Thr)" "" "0000929975" "00014254" "30" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(=)" "" "0000929976" "00014254" "10" "1887" "0" "1887" "0" "c.1887G>A" "r.(?)" "p.(=)" "" "0000949793" "00014254" "30" "1773" "0" "1773" "0" "c.1773G>A" "r.(?)" "p.(Met591Ile)" "" "0000949794" "00014254" "50" "1978" "0" "1978" "0" "c.1978G>A" "r.(?)" "p.(Glu660Lys)" "" "0000979857" "00014254" "50" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Ala8Thr)" "" "0000979858" "00014254" "30" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Gly50Ser)" "" "0000979859" "00014254" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93Gln)" "" "0000979860" "00014254" "50" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Ser133Leu)" "" "0000979861" "00014254" "30" "1047" "3" "1047" "3" "c.1047+3A>G" "r.spl?" "p.?" "" "0000979862" "00014254" "50" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Ala480Val)" "" "0000979863" "00014254" "90" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Ala573Thr)" "" "0000979864" "00014254" "50" "1763" "0" "1763" "0" "c.1763A>T" "r.(?)" "p.(Glu588Val)" "" "0000979865" "00014254" "50" "1934" "0" "1934" "0" "c.1934T>A" "r.(?)" "p.(Met645Lys)" "" "0000979866" "00014254" "70" "2014" "0" "2014" "0" "c.2014C>T" "r.(?)" "p.(Arg672*)" "" "0001038739" "00014254" "50" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Cys)" "" "0001038740" "00014254" "50" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Arg145Gln)" "" "0001038741" "00014254" "50" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Pro184Leu)" "" "0001038742" "00014254" "30" "667" "-3" "667" "-3" "c.667-3C>T" "r.spl?" "p.?" "" "0001038743" "00014254" "30" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Asp342Asn)" "" "0001038744" "00014254" "30" "1048" "-9" "1048" "-9" "c.1048-9C>T" "r.(=)" "p.(=)" "" "0001038745" "00014254" "50" "1231" "0" "1231" "0" "c.1231C>T" "r.(?)" "p.(Arg411Cys)" "" "0001038746" "00014254" "50" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Glu477Gly)" "" "0001038747" "00014254" "50" "1706" "0" "1706" "0" "c.1706C>T" "r.(?)" "p.(Ala569Val)" "" "0001038748" "00014254" "90" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Ala573Thr)" "" "0001038749" "00014254" "50" "1765" "-7" "1765" "-7" "c.1765-7T>A" "r.(=)" "p.(=)" "" "0001038750" "00014254" "50" "1790" "0" "1790" "0" "c.1790A>C" "r.(?)" "p.(Glu597Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000181632" "0000405328" "0000276761" "0000630895" "0000276762" "0000630896" "0000276763" "0000630897" "0000276763" "0000630900" "0000276764" "0000630898" "0000276764" "0000630901" "0000276765" "0000630899" "0000276765" "0000630902"