### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADNP) # 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}}" "ADNP" "activity-dependent neuroprotector homeobox" "20" "q13.13" "unknown" "NG_034200.1" "UD_136085459656" "{PMID:Helsmoortel et al. 2014:24531329}\r\n{PMID:Vandeweyer et al. 2014:25169753}\r\n{PMID:Pescosolido et al. 2014:25057125}" "https://www.LOVD.nl/ADNP" "ADNP research project \r\n" "1" "15766" "23394" "611386" "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/ADNP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-11-20 15:19:37" "00000" "2025-07-08 13:22:38" ## 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}}" "00024223" "ADNP" "transcript variant 1" "003" "NM_015339.2" "" "NP_056154.1" "" "" "" "-345" "4368" "3309" "49547527" "49506883" "00006" "2017-01-30 16:42:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04115" "HVDAS;MRD28" "Helsmoortel-Van der Aa syndrome (HVDAS, mental retardation, autosomal dominant syndrome, type 28 syndrome (MRD-28))" "AD" "615873" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05532" "MRD" "mental retardation, autosomal dominant (MRD, intellectual disability (IDD))" "" "" "" "autosomal dominant" "" "00006" "2018-12-18 09:20:18" "00006" "2018-12-18 09:24:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ADNP" "04115" ## Individuals ## Do not remove or alter this header ## ## Count = 77 "{{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}}" "00029826" "" "" "" "1" "" "01230" "{PMID:Helsmoortel 2014:24531329}" "Patient 1 in the paper" "M" "no" "Belgium" "" "0" "yes" "" "white" "" "00029827" "" "" "" "1" "" "01230" "{PMID:Helsmoortel 2014:24531329}" "patient 2 in the paper" "F" "no" "Netherlands" "" "0" "yes" "" "white" "" "00029828" "" "" "" "1" "" "01230" "{PMID:Helsmoortel 2014:24531329} {PMID:O\'Roak 2012:22495309} {PMID:O\'Roak 2012:23160955} {PMID:O\'Roak 2014:25418537}" "patient 3 in the paper" "F" "no" "(United States)" "" "0" "yes" "" "white" "" "00029829" "" "" "" "1" "" "01230" "{PMID:Helsmoortel 2014:24531329}" "patient 4 in the paper" "M" "no" "Australia" "" "0" "yes" "" "white" "" "00029830" "" "" "" "1" "" "01230" "{PMID:Helsmoortel 2014:24531329}" "patient 5 in the paper" "M" "no" "Sweden" "" "0" "yes" "" "white" "" "00029831" "" "" "" "1" "" "01230" "{PMID:Helsmoortel 2014:24531329}" "patient 6 in the paper" "M" "no" "Belgium" "" "0" "yes" "" "white" "" "00029832" "" "" "" "1" "" "01230" "{PMID:Helsmoortel 2014:24531329}" "patient 7 in the paper" "F" "no" "Netherlands" "" "0" "yes" "" "white" "" "00029833" "" "" "" "1" "" "01230" "{PMID:Helsmoortel 2014:24531329}" "patient 8 in the paper" "M" "no" "Italy" "" "0" "yes" "" "white" "" "00029835" "" "" "" "1" "" "01230" "{PMID:Helsmoortel 2014:24531329}" "patien 9 in the paper" "F" "no" "Italy" "" "0" "yes" "" "white" "" "00029836" "" "" "" "1" "" "01230" "{PMID:Helsmoortel 2014:24531329} {PMID:O\'Roak 2012:23160955} {PMID:O\'Roak 2014:25418537}" "patient 10 in the paper" "M" "no" "United States" "" "0" "yes" "" "white" "" "00029841" "" "" "" "1" "" "01230" "{PMID:Pescosolido 2014:25057125}" "" "F" "no" "(United States)" "" "0" "yes" "" "white" "" "00029842" "" "" "" "1" "" "01230" "{PMID:Vandeweyer 2014:25169753}" "patient 11 in the paper" "M" "no" "(United States)" "" "0" "yes" "" "white" "" "00029843" "" "" "" "1" "" "01230" "" "" "M" "no" "(United States)" "" "0" "yes" "" "white" "" "00029844" "" "" "" "1" "" "01230" "" "" "M" "no" "Netherlands" "" "0" "yes" "" "white" "" "00029846" "" "" "" "1" "" "01230" "" "" "?" "no" "Serbia" "" "0" "yes" "" "white" "" "00029847" "" "" "" "1" "" "01230" "" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "yes" "" "white" "" "00029848" "" "" "" "1" "" "01230" "" "" "M" "no" "(United States)" "" "0" "yes" "" "white" "" "00029849" "" "" "" "1" "" "01230" "" "" "F" "no" "Albania" "" "0" "yes" "" "white" "" "00029850" "" "" "" "1" "" "01230" "" "" "M" "no" "(United States)" "" "0" "yes" "" "white" "" "00029853" "" "" "" "1" "" "01230" "{PMID:O\'Roak 2014:25418537}" "" "?" "no" "(United States)" "" "0" "yes" "" "white" "" "00029854" "" "" "" "1" "" "01230" "{PMID:O\'Roak 2014:25418537}" "" "?" "no" "(United States)" "" "0" "yes" "" "white" "" "00029855" "" "" "" "1" "" "01230" "" "" "M" "no" "Netherlands" "" "0" "yes" "" "white" "" "00030138" "" "" "" "1" "" "01230" "" "" "F" "no" "(United States)" "" "0" "yes" "" "white" "" "00032351" "" "" "" "1" "" "01230" "" "" "M" "no" "(Netherlands)" "" "0" "yes" "" "white" "" "00034045" "" "" "" "1" "" "01230" "" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "yes" "" "white" "" "00034046" "" "" "" "1" "" "01230" "" "" "M" "no" "Israel" "" "0" "yes" "" "" "" "00034574" "" "" "" "1" "" "01230" "" "" "F" "no" "" "" "0" "yes" "" "" "" "00037582" "" "" "" "1" "" "01230" "" "" "F" "no" "Ireland" "" "0" "" "" "white" "" "00038534" "" "" "" "1" "" "01230" "" "" "F" "no" "Netherlands" "" "0" "" "" "white" "" "00038639" "" "" "" "1" "" "01230" "" "" "F" "no" "Australia" "" "0" "yes" "" "white" "" "00038764" "" "" "" "1" "" "01230" "" "" "M" "" "Denmark" "" "0" "yes" "" "white" "" "00038765" "" "" "" "1" "" "01230" "" "" "" "" "(United States)" "" "0" "yes" "" "white" "" "00043759" "" "" "" "1" "" "01230" "" "" "F" "-" "Norway" "" "0" "yes" "" "white" "" "00043760" "" "" "" "1" "" "01230" "" "" "F" "-" "France" "" "0" "" "" "white" "" "00050404" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050419" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050648" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050688" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00079076" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079077" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079078" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079079" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079080" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079082" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079083" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079084" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079085" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079086" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079087" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079088" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079089" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079108" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079109" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079110" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079111" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079112" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079113" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079114" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00079115" "" "" "" "1" "" "01230" "" "" "" "" "" "" "0" "" "" "" "" "00080956" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00132966" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00133250" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00134039" "" "" "" "1" "" "02320" "{PMID:Huynh 2018:29899371}" "" "M" "no" "France" "03y10m" "0" "" "" "" "patient" "00144516" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00154974" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00168116" "" "" "" "1" "" "02537" "{PMID:Du 2018:30555518}" "" "M" "" "China" "" "0" "" "" "" "" "00180162" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat14" "00301409" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00320351" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "171106" "00391753" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "097P" "00401570" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "181P" "00416241" "" "" "" "1" "" "00006" "{PMID:Monroe 2016:26845106}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat6" "00419580" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20171" "00438412" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat131" "00440374" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2257.1" "00451686" "" "" "" "1" "" "01164" "" "" "M" "?" "Turkey" "" "0" "" "" "" "239229" "00455156" "" "" "" "1" "" "00006" "{PMID:Kimura 2016:27595554}" "analysis of cohort of schizophrenia and autism spectrum disorder cases" "" "" "Japan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 56 "{{individualid}}" "{{diseaseid}}" "00029826" "04115" "00029827" "04115" "00029828" "04115" "00029829" "04115" "00029830" "04115" "00029831" "04115" "00029832" "04115" "00029833" "04115" "00029835" "04115" "00029836" "04115" "00029841" "04115" "00029842" "04115" "00029843" "04115" "00029844" "04115" "00029846" "04115" "00029847" "04115" "00029848" "04115" "00029849" "04115" "00029850" "04115" "00029853" "04115" "00029854" "04115" "00029855" "04115" "00030138" "04115" "00032351" "04115" "00034045" "04115" "00034046" "04115" "00034574" "04115" "00037582" "04115" "00038534" "04115" "00038639" "04115" "00038764" "04115" "00038765" "04115" "00043759" "04115" "00043760" "04115" "00050404" "00198" "00050419" "00198" "00050648" "00198" "00050688" "00198" "00080956" "04115" "00132966" "00198" "00133250" "00198" "00134039" "04115" "00144516" "00198" "00154974" "00198" "00168116" "00138" "00180162" "00198" "00301409" "00198" "00320351" "05532" "00391753" "00198" "00401570" "00139" "00416241" "00139" "00419580" "00198" "00438412" "04270" "00440374" "00198" "00451686" "04115" "00455156" "00138" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 04115, 04270, 05532 ## Count = 23 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Development/Speech/Delayed}}" "{{Phenotype/Hypotonia/Muscular/Generalized}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Eye/Pupil}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000027775" "04115" "00034046" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027776" "04115" "00034045" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027777" "04115" "00032351" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027778" "04115" "00029826" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027779" "04115" "00029827" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037016" "00198" "00050404" "00006" "Isolated (sporadic)" "" "global developmental delay, generalized neonatal hypotonia, bilateral ptosis, gastroesophageal reflux, cryptorchidism, plagiocephaly, low-set ears, microtia first degree, broad thumb, respiratory distress" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037031" "00198" "00050419" "00006" "Isolated (sporadic)" "" "intellectual disability, plagiocephaly, obesity, inguinal hernia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037260" "00198" "00050648" "00006" "Isolated (sporadic)" "" "juvenile cataract, microcephaly, muscular hypotonia of the trunk, inverted nipples, sparse scalp hair, global developmental delay, long palpebral fissure, abnormality of the fingertips, joint laxity" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037300" "00198" "00050688" "00006" "Isolated (sporadic)" "" "constipation, microcephaly, iris coloboma, global developmental delay, delayed speech and language development, delayed speech and language development, joint hypermobility, hirsutism, long palpebral fissure, depressed nasal bridge, depressed nasal bridge, thick lower lip vermilion, widely spaced teeth, drooling, smooth philtrum, autism" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060525" "04115" "00080956" "01758" "Isolated (sporadic)" "" "Helsmoortel-van der Aa syndrome (OMIM:615873)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105727" "00198" "00132966" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Absent speech (HP:0001344); Poor eye contact (HP:0000817)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106003" "00198" "00133250" "01807" "Unknown" "" "Intellectual disability, moderate (HP:0002342); Behavioral abnormality (HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106788" "04115" "00134039" "02320" "Isolated (sporadic)" "03y10m" "hypotonia, recurrent respiratory tract infections, pervasive developmental disorder, intellectual disability, psychomotor delay: walk at 2 years, language delay, autistic traits, chronic constipation, facial dysmorphism: prominent forehead, high anterior hairline, hypertelorism, strabismus, wide palpebral fissures, small ears, broad nasal bridge, short nose, long/smooth philtrum, hyperlaxity of joints, ataxic gait.; sleep disturbance" "" "" "15,5 kg" "severe" "" "" "03y10m" "" "" "" "moderate" "hypertelorism" "" "" "" "" "" "" "0000117256" "00198" "00144516" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Growth hormone deficiency (HP:0000824); Atrial septal defect (HP:0001631); Lower limb hypertonia (HP:0006895)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127706" "00198" "00154974" "01807" "Unknown" "" "Neurodevelopmental delay (HP:0012758); Autistic behavior (HP:0000729); Obesity (HP:0001513)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000142616" "00198" "00180162" "00006" "Familial, autosomal dominant" "" "Epilepsy (HP:0001250), generalized tonic-clonic seizures (HP:0025190), global developmental delay (HP:0001263), intellectual disability (HP:0001249), aggressive behavior (HP:0000718), stereotypic behavior (HP:0000733), agenesis of corpus callosum (HP:0001274), hypothyroidism (HP:0000821), growth hormone deficiency (HP:0000824), abnormality of teeth (HP:0000164)." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "HVDAS, additional symptoms" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000228587" "00198" "00301409" "01807" "Unknown" "" "Visual impairment (HP:0000505); Delayed speech and language development (HP:0000750); Abnormal facial shape (HP:0001999); Febrile seizures (HP:0002373); Severe global developmental delay (HP:0011344); Psychomotor retardation (HP:0025356); Cognitive impairment (HP:0100543)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242364" "05532" "00320351" "01164" "Unknown" "01y" "(+) Delayed speech and language development,(+) Global developmental delay,(+) Motor delay,(+) Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000308008" "00139" "00416241" "00006" "Isolated (sporadic)" "04y09m" "moderate non-syndromic intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000310861" "00198" "00419580" "02300" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "0000328316" "04270" "00438412" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0030211 slow pupillary light response; HP:0002353 eeg abnormality; HP:0006956 dilation of lateral ventricles; HP:0001612 weak cry; HP:0001643 patent ductus arteriosus; HP:0001655 patent foramen ovale; HP:0001942 metabolic acidosis; HP:0002901 hypocalcemia; HP:0003073 hypoalbuminemia; HP:0003265 neonatal hyperbilirubinemia; HP:0002094 dyspnea; HP:0030842 choking episodes; HP:0001252 muscular hypotonia" "8d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000330284" "00198" "00440374" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Helsmoortel-Van der Aa syndrome (MIM #615873)" "" "" "0000340346" "04115" "00451686" "01164" "Familial, autosomal dominant" "04y" "Intellectual disability, Delayed speech and language development, Neurodevelopmental delay, Broad-based gait, Microcephaly" "" "" "" "speech delayed (HP:0000750)" "?" "" "" "" "" "" "yes" "?" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 78 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029871" "00029826" "1" "01230" "01230" "2015-02-12 09:57:32" "" "" "SEQ" "DNA" "blood" "" "0000029873" "00029827" "1" "01230" "01230" "2015-02-12 11:03:26" "" "" "SEQ" "DNA" "blood" "" "0000029875" "00029828" "1" "01230" "01230" "2015-02-12 11:16:15" "" "" "SEQ" "DNA" "blood" "" "0000029877" "00029829" "1" "01230" "01230" "2015-02-12 11:24:33" "" "" "SEQ" "DNA" "blood" "" "0000029879" "00029830" "1" "01230" "01230" "2015-02-12 11:35:22" "" "" "SEQ" "DNA" "blood" "" "0000029880" "00029831" "1" "01230" "01230" "2015-02-12 11:53:49" "" "" "MCA" "DNA" "blood" "" "0000029881" "00029831" "1" "01230" "01230" "2015-02-12 11:56:16" "" "" "SEQ" "DNA" "blood" "" "0000029883" "00029832" "1" "01230" "01230" "2015-02-12 12:00:01" "" "" "SEQ" "DNA" "blood" "" "0000029885" "00029833" "1" "01230" "01230" "2015-02-12 12:06:22" "" "" "SEQ" "DNA" "blood" "" "0000029887" "00029835" "1" "01230" "01230" "2015-02-12 12:10:24" "" "" "SEQ" "DNA" "blood" "" "0000029889" "00029836" "1" "01230" "01230" "2015-02-12 12:14:25" "" "" "SEQ" "DNA" "blood" "" "0000029896" "00029841" "1" "01230" "01230" "2015-02-12 14:51:43" "" "" "SEQ" "DNA" "" "" "0000029898" "00029842" "1" "01230" "01230" "2015-02-12 15:23:11" "" "" "SEQ" "DNA" "" "" "0000029900" "00029843" "1" "01230" "01230" "2015-02-12 15:46:19" "" "" "SEQ" "DNA" "" "" "0000029902" "00029844" "1" "01230" "01230" "2015-02-12 15:52:41" "" "" "SEQ" "DNA" "" "" "0000029905" "00029846" "1" "01230" "01230" "2015-02-12 16:28:47" "" "" "SEQ" "DNA" "" "" "0000029907" "00029847" "1" "01230" "01230" "2015-02-12 16:43:24" "" "" "SEQ" "DNA" "" "" "0000029909" "00029848" "1" "01230" "01230" "2015-02-12 16:51:31" "" "" "SEQ" "DNA" "" "" "0000029911" "00029849" "1" "01230" "01230" "2015-02-12 17:08:29" "" "" "SEQ" "DNA" "" "" "0000029913" "00029850" "1" "01230" "01230" "2015-02-12 17:16:35" "" "" "SEQ" "DNA" "" "" "0000029917" "00029853" "1" "01230" "01230" "2015-02-13 09:56:53" "" "" "SEQ" "DNA" "" "" "0000029919" "00029854" "1" "01230" "01230" "2015-02-13 10:02:53" "" "" "SEQ" "DNA" "" "" "0000029921" "00029855" "1" "01230" "01230" "2015-02-13 10:53:13" "" "" "SEQ" "DNA" "" "" "0000030205" "00030138" "1" "01230" "01230" "2015-02-13 16:45:03" "" "" "SEQ" "DNA" "" "" "0000032419" "00032351" "1" "01230" "01230" "2015-02-16 09:15:17" "" "" "SEQ" "DNA" "" "" "0000034114" "00034045" "1" "01230" "01230" "2015-03-11 10:12:03" "" "" "SEQ" "DNA" "" "" "0000034116" "00034046" "1" "01230" "01230" "2015-03-11 12:33:03" "" "" "SEQ" "DNA" "" "" "0000034646" "00034574" "1" "01230" "01230" "2015-04-01 10:34:09" "" "" "SEQ" "DNA" "" "" "0000037676" "00037582" "1" "01230" "01230" "2015-04-21 11:13:23" "" "" "SEQ" "DNA" "" "" "0000038782" "00038534" "1" "01230" "01230" "2015-05-15 11:35:30" "" "" "SEQ" "DNA" "" "" "0000038875" "00038639" "1" "01230" "01230" "2015-05-18 17:48:41" "" "" "SEQ" "DNA" "" "" "0000038998" "00038764" "1" "01230" "01230" "2015-06-02 11:13:55" "" "" "SEQ" "DNA" "" "" "0000039000" "00038765" "1" "01230" "01230" "2015-06-02 11:26:23" "" "" "SEQ" "DNA" "" "" "0000044002" "00043759" "1" "01230" "01230" "2015-06-18 17:31:44" "" "" "SEQ" "DNA" "" "" "0000044004" "00043760" "1" "01230" "01230" "2015-06-18 17:37:58" "" "" "SEQ" "DNA" "" "" "0000050349" "00050404" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050364" "00050419" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050593" "00050648" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050633" "00050688" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000079262" "00079076" "1" "01230" "01230" "2016-07-31 12:30:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000079263" "00079077" "1" "01230" "01230" "2016-07-31 12:51:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000079264" "00079078" "1" "01230" "01230" "2016-07-31 16:21:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000079265" "00079079" "1" "01230" "01230" "2016-07-31 16:29:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000079266" "00079080" "1" "01230" "01230" "2016-07-31 16:39:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000079267" "00079082" "1" "01230" "01230" "2016-07-31 16:43:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000079268" "00079083" "1" "01230" "01230" "2016-07-31 16:51:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000079269" "00079084" "1" "01230" "01230" "2016-07-31 20:55:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000079270" "00079085" "1" "01230" "01230" "2016-07-31 21:10:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000079271" "00079086" "1" "01230" "01230" "2016-07-31 21:18:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000079272" "00079087" "1" "01230" "01230" "2016-07-31 21:21:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000079273" "00079088" "1" "01230" "01230" "2016-07-31 21:24:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000079274" "00079089" "1" "01230" "01230" "2016-07-31 21:31:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000079293" "00079108" "1" "01230" "01230" "2016-07-31 21:34:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000079294" "00079109" "1" "01230" "01230" "2016-07-31 21:37:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000079295" "00079110" "1" "01230" "01230" "2016-07-31 21:40:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000079296" "00079111" "1" "01230" "01230" "2016-07-31 21:44:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000079297" "00079112" "1" "01230" "01230" "2016-07-31 21:46:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000079298" "00079113" "1" "01230" "01230" "2016-07-31 21:50:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000079299" "00079114" "1" "01230" "01230" "2016-07-31 21:52:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000079300" "00079115" "1" "01230" "01230" "2016-07-31 22:11:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000081068" "00080956" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000133800" "00132966" "0" "01807" "01807" "2017-11-10 16:51:19" "" "" "SEQ" "DNA" "" "" "0000134084" "00133250" "0" "01807" "01807" "2017-11-14 15:36:50" "" "" "SEQ" "DNA" "" "" "0000134877" "00134039" "1" "02320" "02320" "2017-11-18 18:46:03" "02320" "2017-11-19 16:14:43" "arrayCGH" "DNA" "Blood lymphocytes" "" "0000145373" "00144516" "0" "01807" "01807" "2017-12-16 16:30:26" "" "" "SEQ" "DNA" "" "" "0000155837" "00154974" "0" "01807" "01807" "2018-03-07 04:34:05" "" "" "SEQ" "DNA" "" "" "0000168988" "00168116" "1" "02537" "02537" "2018-07-20 09:25:20" "" "" "SEQ-NG" "DNA" "" "" "0000181065" "00180162" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000302530" "00301409" "1" "01807" "01807" "2020-05-15 11:36:01" "" "" "SEQ" "DNA" "" "" "0000321537" "00320351" "1" "01164" "01164" "2020-11-27 13:42:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000392995" "00391753" "1" "02494" "02494" "2021-11-18 13:48:06" "" "" "SEQ-NG" "DNA" "" "WES" "0000402813" "00401570" "1" "02494" "02494" "2022-02-01 10:08:50" "" "" "SEQ-NG" "DNA" "" "WES" "0000417521" "00416241" "1" "00006" "00006" "2022-08-25 18:44:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000420884" "00419580" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439894" "00438412" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441859" "00440374" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000453289" "00451686" "1" "01164" "01164" "2024-06-28 14:44:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000456769" "00455156" "1" "00006" "00006" "2024-10-02 18:27:02" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{geneid}}" "0000029871" "ADNP" "0000029873" "ADNP" "0000029875" "ADNP" "0000029877" "ADNP" "0000029879" "ADNP" "0000029880" "ADNP" "0000029881" "ADNP" "0000029883" "ADNP" "0000029885" "ADNP" "0000029887" "ADNP" "0000029889" "ADNP" "0000029896" "ADNP" "0000029898" "ADNP" "0000029900" "ADNP" "0000029902" "ADNP" "0000029905" "ADNP" "0000029907" "ADNP" "0000029909" "ADNP" "0000029911" "ADNP" "0000029913" "ADNP" "0000029917" "ADNP" "0000029919" "ADNP" "0000029921" "ADNP" "0000030205" "ADNP" "0000032419" "ADNP" "0000034114" "ADNP" "0000034116" "ADNP" "0000034646" "ADNP" "0000037676" "ADNP" "0000038782" "ADNP" "0000038875" "ADNP" "0000038998" "ADNP" "0000039000" "ADNP" "0000044002" "ADNP" "0000044004" "ADNP" "0000050349" "ADNP" "0000050364" "ADNP" "0000050593" "ADNP" "0000050633" "ADNP" "0000081068" "ADNP" "0000168988" "ADNP" "0000181065" "ADNP" "0000321537" "ADNP" "0000453289" "ADNP" ## 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 = 171 "{{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}}" "0000055961" "0" "99" "20" "49508756" "49508759" "del" "0" "01230" "ADNP_000004" "g.49508756_49508759del" "" "{PMID:Helsmoortel et al. 2014:24531329}" "" "2496_2499delTAAA" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892219_50892222del" "" "pathogenic" "" "0000055962" "0" "99" "20" "49510040" "49510040" "subst" "0" "01230" "ADNP_000002" "g.49510040G>T" "" "{PMID:Helsmoortel et al. 2014:24531329}" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.50893503G>T" "" "pathogenic" "" "0000055963" "0" "99" "20" "49510029" "49510030" "del" "0" "01230" "ADNP_000003" "g.49510029_49510030del" "" "{PMID:Helsmoortel et al. 2014:24531329} {PMID:O\'Roak et al. 2012:22495309} {PMID:O\'Roak et al. 2012:23160955} {PMID:O\'Roak et al. 2014:25418537}" "" "1222_1223delAA" "de novo in patient" "De novo" "" "" "0" "" "" "g.50893492_50893493del" "" "pathogenic" "" "0000055964" "0" "99" "20" "49509086" "49509098" "del" "0" "01230" "ADNP_000001" "g.49509086_49509098del" "" "{PMID:Helsmoortel et al. 2014:24531329}" "" "2153_2165delCTTACGAGCAAAT" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892549_50892561del" "" "pathogenic" "" "0000055965" "0" "99" "20" "49509094" "49509094" "subst" "0" "01230" "ADNP_000005" "g.49509094G>C" "" "{PMID:Helsmoortel et al. 2014:24531329}" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892557G>C" "" "pathogenic" "" "0000055966" "0" "99" "20" "49508759" "49508762" "del" "0" "01230" "ADNP_000006" "g.49508759_49508762del" "" "{PMID:Helsmoortel et al. 2014:24531329}" "" "2491_2494delTTAA" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892222_50892225del" "" "pathogenic" "" "0000055967" "0" "99" "20" "49508443" "49508443" "del" "0" "01230" "ADNP_000007" "g.49508443del" "" "{PMID:Helsmoortel et al. 2014:24531329}" "" "2808delC" "de novo in patient" "De novo" "" "" "0" "" "" "g.50891906del" "" "pathogenic" "" "0000055968" "0" "99" "20" "49508759" "49508762" "del" "0" "01230" "ADNP_000006" "g.49508759_49508762del" "" "{PMID:Helsmoortel et al. 2014:24531329}" "" "2491_2494delTTAA" "do novo in patient" "De novo" "" "" "0" "" "" "g.50892222_50892225del" "" "pathogenic" "" "0000055969" "0" "99" "20" "49509321" "49509321" "subst" "0" "01230" "ADNP_000008" "g.49509321G>A" "" "{PMID:Helsmoortel et al. 2014:24531329}" "" "" "parents not available for testing inheritance" "Unknown" "" "" "0" "" "" "g.50892784G>A" "" "pathogenic" "" "0000055970" "0" "99" "20" "49509095" "49509095" "ins" "0" "01230" "ADNP_000009" "g.49509095dup" "" "{PMID:Helsmoortel et al. 2014:24531329} {PMID:O\'Roak et al. 2012:23160955} {PMID:O\'Roak et al. 2014:25418537}" "" "2156_2157insA" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892558dup" "" "pathogenic" "" "0000055980" "0" "99" "20" "49509094" "49509094" "subst" "0" "01230" "ADNP_000005" "g.49509094G>C" "" "{PMID:Pescosolido et al. 2014:25057125}" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892557G>C" "" "pathogenic" "" "0000055981" "0" "99" "20" "49518637" "49518637" "subst" "0" "01230" "ADNP_000010" "g.49518637G>A" "" "{PMID:Vandeweyer et al. 2014:25169753}" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.50902100G>A" "" "pathogenic" "" "0000055982" "0" "99" "20" "49510204" "49510205" "del" "0" "01230" "ADNP_000011" "g.49510204_49510205del" "" "" "" "1046_1047delTG" "de novo in patient" "De novo" "" "" "0" "" "" "g.50893667_50893668del" "" "pathogenic" "" "0000055983" "0" "99" "20" "49508756" "49508759" "del" "0" "01230" "ADNP_000004" "g.49508756_49508759del" "" "" "" "2496_2499delTAAA" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892219_50892222del" "" "pathogenic" "" "0000055984" "0" "99" "20" "49510734" "49510734" "subst" "0" "01230" "ADNP_000012" "g.49510734G>A" "" "" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.50894197G>A" "" "pathogenic" "" "0000055985" "0" "99" "20" "49508756" "49508759" "del" "0" "01230" "ADNP_000004" "g.49508756_49508759del" "" "" "" "2496_2499delTAAA" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892219_50892222del" "" "pathogenic" "" "0000055986" "0" "99" "20" "49510913" "49510913" "del" "0" "01230" "ADNP_000013" "g.49510913del" "" "" "" "339delC" "de novo in patient" "De novo" "" "" "0" "" "" "g.50894376del" "" "pathogenic" "" "0000055987" "0" "99" "20" "49508756" "49508759" "del" "0" "01230" "ADNP_000004" "g.49508756_49508759del" "" "" "" "2496_2499delTAAA" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892219_50892222del" "" "pathogenic" "" "0000055988" "0" "99" "20" "49509063" "49509063" "subst" "0" "01230" "ADNP_000014" "g.49509063G>A" "" "" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892526G>A" "" "pathogenic" "" "0000055991" "0" "99" "20" "49510225" "49510225" "ins" "0" "01230" "ADNP_000015" "g.49510225dup" "" "{PMID:O\'Roak et al. 2014:25418537}" "" "1026_1027insT" "de novo in patient" "De novo" "" "" "0" "" "" "g.50893688dup" "" "pathogenic" "" "0000055992" "0" "99" "20" "49508081" "49508081" "subst" "0" "01230" "ADNP_000016" "g.49508081A>T" "" "{PMID:O\'Roak et al. 2014:25418537}" "" "" "Mother is 11% mosaic" "Germline" "" "" "0" "" "" "g.50891544A>T" "" "pathogenic" "" "0000055993" "0" "99" "20" "49509063" "49509063" "subst" "0" "01230" "ADNP_000014" "g.49509063G>A" "" "" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892526G>A" "" "pathogenic" "" "0000056283" "0" "99" "20" "49509094" "49509094" "subst" "0" "01230" "ADNP_000005" "g.49509094G>C" "" "" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892557G>C" "" "pathogenic" "" "0000058546" "0" "99" "20" "49508759" "49508762" "del" "0" "01230" "ADNP_000006" "g.49508759_49508762del" "" "" "" "2491_2494delTTAA" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892222_50892225del" "" "pathogenic" "" "0000061123" "0" "99" "20" "49509094" "49509094" "subst" "0" "01230" "ADNP_000005" "g.49509094G>C" "" "" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892557G>C" "" "pathogenic" "" "0000061124" "0" "99" "20" "49510605" "49510605" "subst" "0" "01230" "ADNP_000017" "g.49510605G>A" "" "" "" "c.646C>T" "de novo in patient" "De novo" "" "" "0" "ElisaCappuyns" "" "g.50894068G>A" "" "pathogenic" "" "0000061764" "0" "99" "20" "49510712" "49510715" "del" "0" "01230" "ADNP_000018" "g.49510712_49510715del" "" "" "" "539_542delTTAG" "de novo in patient" "De novo" "" "" "0" "" "" "g.50894175_50894178del" "" "pathogenic" "" "0000064826" "0" "99" "20" "49509123" "49509123" "dup" "0" "01230" "ADNP_000019" "g.49509123dup" "" "" "" "2130delAinsCA" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892586dup" "" "pathogenic" "" "0000066462" "0" "99" "20" "49508756" "49508759" "del" "0" "01230" "ADNP_000004" "g.49508756_49508759del" "" "" "" "2496_2499delTAAA" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892219_50892222del" "" "pathogenic" "" "0000066671" "0" "99" "20" "49508939" "49508939" "del" "0" "01230" "ADNP_000022" "g.49508939del" "" "" "" "2312_2312delT" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892402del" "" "pathogenic" "" "0000066983" "0" "99" "20" "49508756" "49508759" "del" "0" "01230" "ADNP_000004" "g.49508756_49508759del" "" "" "" "2496_2499delTAAA" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892219_50892222del" "" "pathogenic" "" "0000066984" "0" "55" "20" "49508211" "49508211" "dup" "0" "01230" "ADNP_000023" "g.49508211dup" "" "" "" "3047_3048insA" "maternal" "Germline" "" "" "0" "" "" "g.50891674dup" "" "VUS" "" "0000071789" "0" "99" "20" "49509094" "49509094" "subst" "0" "01230" "ADNP_000005" "g.49509094G>C" "" "" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892557G>C" "" "pathogenic" "" "0000071790" "0" "99" "20" "49509094" "49509094" "subst" "0" "01230" "ADNP_000005" "g.49509094G>C" "" "" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.50892557G>C" "" "pathogenic" "" "0000079329" "0" "90" "20" "49510029" "49510031" "delins" "0" "00006" "ADNP_000026" "g.49510029_49510031del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "1220_1224delinsAG" "" "De novo" "" "" "0" "" "" "g.50893492_50893494del" "" "pathogenic" "" "0000079344" "0" "90" "20" "49509096" "49509097" "delins" "0" "00006" "ADNP_000025" "g.49509096_49509097delinsT" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "2154_2157delinsAAC" "" "De novo" "" "" "0" "" "" "g.50892559_50892560delinsT" "" "pathogenic" "" "0000079573" "0" "90" "20" "49508758" "49508762" "del" "0" "00006" "ADNP_000024" "g.49508758_49508762del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "2491_2500delinsTAAAG" "" "De novo" "" "" "0" "" "" "g.50892221_50892225del" "" "pathogenic" "" "0000079613" "0" "90" "20" "49508758" "49508762" "del" "0" "00006" "ADNP_000024" "g.49508758_49508762del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "2491_2500delinsTAAAG" "" "De novo" "" "" "0" "" "" "g.50892221_50892225del" "" "pathogenic" "" "0000097054" "0" "99" "20" "49508756" "49508759" "del" "0" "01509" "ADNP_000004" "g.49508756_49508759del" "" "" "" "2496_2499delTAAA" "" "De novo" "" "" "0" "" "" "g.50892219_50892222del" "" "pathogenic" "" "0000127893" "0" "99" "20" "49509162" "49509162" "subst" "0" "01230" "ADNP_000028" "g.49509162G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.50892625G>A" "" "pathogenic" "" "0000127894" "0" "99" "20" "49510578" "49510578" "subst" "0" "01230" "ADNP_000028" "g.49510578G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.50894041G>A" "" "pathogenic" "" "0000127895" "0" "99" "20" "49509123" "49509123" "del" "0" "01230" "ADNP_000029" "g.49509123del" "" "" "" "2129_2129delC" "" "De novo" "" "" "0" "" "" "g.50892586del" "" "pathogenic" "" "0000127896" "0" "99" "20" "49508181" "49508184" "del" "0" "01230" "ADNP_000030" "g.49508181_49508184del" "" "" "" "3069_3072delAGAG" "" "De novo" "" "" "0" "" "" "g.50891644_50891647del" "" "pathogenic" "" "0000127897" "0" "99" "20" "49508965" "49508965" "del" "0" "01230" "ADNP_000031" "g.49508965del" "" "" "" "2287_2287delT" "" "De novo" "" "" "0" "" "" "g.50892428del" "" "pathogenic" "" "0000127898" "0" "99" "20" "49510767" "49510767" "subst" "0" "01230" "ADNP_000032" "g.49510767G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.50894230G>A" "" "pathogenic" "" "0000127899" "0" "99" "20" "49520533" "49520533" "subst" "0" "01230" "ADNP_000033" "g.49520533T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.50903996T>C" "" "pathogenic" "" "0000127907" "0" "99" "20" "49510117" "49510117" "subst" "0" "01230" "ADNP_000034" "g.49510117A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.50893580A>C" "" "pathogenic" "" "0000127908" "0" "99" "20" "49509045" "49509045" "dup" "0" "01230" "ADNP_000035" "g.49509045dup" "" "" "" "2206dupA" "" "De novo" "" "" "0" "" "" "g.50892508dup" "" "pathogenic" "" "0000127909" "0" "99" "20" "49510016" "49510016" "del" "0" "01230" "ADNP_000036" "g.49510016del" "" "" "" "1235delT" "" "De novo" "" "" "0" "" "" "g.50893479del" "" "pathogenic" "" "0000127910" "0" "99" "20" "49508982" "49508983" "ins" "0" "01230" "ADNP_000037" "g.49508982_49508983insA" "" "" "" "2268_2269insT" "" "De novo" "" "" "0" "" "" "g.50892445_50892446insA" "" "pathogenic" "" "0000127911" "0" "99" "20" "49510883" "49510884" "del" "0" "01230" "ADNP_000038" "g.49510883_49510884del" "" "" "" "372_373delCA" "" "De novo" "" "" "0" "" "" "g.50894346_50894347del" "" "pathogenic" "" "0000127930" "0" "99" "20" "49509094" "49509094" "subst" "0" "01230" "ADNP_000039" "g.49509094G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.50892557G>T" "" "pathogenic" "" "0000127931" "0" "99" "20" "49510036" "49510036" "del" "0" "01230" "ADNP_000040" "g.49510036del" "" "" "" "1216delC" "" "De novo" "" "" "0" "" "" "g.50893499del" "" "pathogenic" "" "0000127932" "0" "99" "20" "49510065" "49510071" "del" "0" "01230" "ADNP_000041" "g.49510065_49510071del" "" "" "" "1184_1190delAGTCTGC" "" "De novo" "" "" "0" "" "" "g.50893528_50893534del" "" "pathogenic" "" "0000127933" "0" "99" "20" "49508754" "49508758" "del" "0" "01230" "ADNP_000042" "g.49508754_49508758del" "" "" "" "2495_2499delATAAA" "" "De novo" "" "" "0" "" "" "g.50892217_50892221del" "" "pathogenic" "" "0000127934" "0" "99" "20" "49510434" "49510434" "del" "0" "01230" "ADNP_000043" "g.49510434del" "" "" "" "819delC" "" "De novo" "" "" "0" "" "" "g.50893897del" "" "pathogenic" "" "0000127935" "0" "99" "20" "49518565" "49518565" "dup" "0" "01230" "ADNP_000044" "g.49518565dup" "" "" "" "190dupA" "" "De novo" "" "" "0" "" "" "g.50902028dup" "" "pathogenic" "" "0000127936" "0" "99" "20" "49510218" "49510218" "subst" "0" "01230" "ADNP_000045" "g.49510218G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.50893681G>A" "" "pathogenic" "" "0000127937" "0" "99" "20" "49510578" "49510578" "subst" "0" "01230" "ADNP_000028" "g.49510578G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.50894041G>A" "" "pathogenic" "" "0000127938" "0" "99" "20" "49510600" "49510604" "del" "0" "01230" "ADNP_000046" "g.49510600_49510604del" "" "" "" "651_655delAGAGA" "" "De novo" "" "" "0" "" "" "g.50894063_50894067del" "" "pathogenic" "" "0000130154" "0" "70" "20" "49509094" "49509094" "del" "0" "01758" "ADNP_000047" "g.49509094del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.50892557del" "" "likely pathogenic" "ACMG" "0000223228" "0" "90" "20" "49509069" "49509069" "del" "0" "01807" "ADNP_000048" "g.49509069del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50892532del" "" "pathogenic" "" "0000223762" "0" "90" "20" "49508925" "49508925" "dup" "0" "01807" "ADNP_000049" "g.49508925dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50892388dup" "" "pathogenic" "" "0000225071" "0" "90" "20" "49508676" "49571808" "del" "0" "02320" "ADNP_000050" "g.(49457856_49508676)_(49571808_49620163)del" "" "{PMID:Huynh 2018:29899371}" "" "" "" "De novo" "" "" "0" "" "arr[GRCh37] 20q13.13(49508676_49571808)x1" "" "" "pathogenic" "" "0000236486" "0" "90" "20" "49509598" "49509599" "del" "0" "01807" "ADNP_000051" "g.49509598_49509599del" "" "" "" "1652_1653delAT" "" "Unknown" "" "" "0" "" "" "g.50893061_50893062del" "" "pathogenic" "" "0000260035" "0" "90" "20" "49510417" "49510417" "del" "0" "02329" "ADNP_000059" "g.49510417del" "" "" "" "ADNP(NM_001282531.3):c.834delG (p.K279Rfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50893880del" "" "pathogenic" "" "0000262043" "0" "90" "20" "49509063" "49509063" "subst" "0" "01943" "ADNP_000014" "g.49509063G>A" "" "" "" "ADNP(NM_001282531.2):c.2188C>T (p.R730*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50892526G>A" "" "pathogenic" "" "0000262044" "0" "30" "20" "49508914" "49508914" "subst" "2.84493E-5" "01943" "ADNP_000055" "g.49508914G>A" "" "" "" "ADNP(NM_001282531.2):c.2337C>T (p.P779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50892377G>A" "" "likely benign" "" "0000262045" "0" "30" "20" "49510342" "49510342" "subst" "0.000394078" "01943" "ADNP_000058" "g.49510342C>T" "" "" "" "ADNP(NM_001282531.2):c.909G>A (p.M303I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50893805C>T" "" "likely benign" "" "0000275497" "0" "10" "20" "49551780" "49551780" "subst" "0" "01943" "DPM1_000003" "g.49551780T>A" "" "" "" "DPM1(NM_003859.1):c.679-7A>T (p.(=)), DPM1(NM_003859.2):c.679-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50935243T>A" "" "benign" "" "0000328485" "0" "50" "20" "49508379" "49508379" "subst" "8.12367E-6" "01804" "ADNP_000053" "g.49508379C>T" "" "" "" "ADNP(NM_015339.2):c.2872G>A (p.(Asp958Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50891842C>T" "" "VUS" "" "0000328486" "0" "50" "20" "49509038" "49509038" "subst" "0" "01804" "ADNP_000056" "g.49509038G>C" "" "" "" "ADNP(NM_015339.2):c.2213C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50892501G>C" "" "VUS" "" "0000339128" "0" "90" "20" "49508824" "49508824" "dup" "0" "02327" "ADNP_000064" "g.49508824dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50892287dup" "" "pathogenic" "" "0000342462" "0" "90" "20" "49510461" "49510461" "subst" "0" "02327" "ADNP_000065" "g.49510461G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50893924G>A" "" "pathogenic" "" "0000343314" "0" "90" "20" "49509063" "49509063" "subst" "0" "02327" "ADNP_000014" "g.49509063G>A" "" "" "" "ADNP(NM_001282531.2):c.2188C>T (p.R730*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50892526G>A" "" "pathogenic" "" "0000343601" "0" "90" "20" "49510808" "49510809" "del" "0" "02327" "ADNP_000066" "g.49510808_49510809del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50894271_50894272del" "" "pathogenic" "" "0000347359" "0" "50" "20" "49508203" "49508204" "ins" "0" "02327" "ADNP_000063" "g.49508203_49508204insA" "" "" "" "ADNP(NM_001282531.1):c.3047_3048insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50891666_50891667insA" "" "VUS" "" "0000347705" "0" "90" "20" "49520533" "49520533" "subst" "0" "02327" "ADNP_000033" "g.49520533T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50903996T>C" "" "pathogenic" "" "0000348990" "0" "90" "20" "49510040" "49510040" "subst" "0" "02327" "ADNP_000002" "g.49510040G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50893503G>T" "" "pathogenic" "" "0000350066" "0" "70" "20" "49510117" "49510117" "subst" "0" "02327" "ADNP_000034" "g.49510117A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50893580A>C" "" "likely pathogenic" "" "0000350182" "0" "90" "20" "49509094" "49509094" "subst" "0" "02327" "ADNP_000005" "g.49509094G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50892557G>C" "" "pathogenic" "" "0000356922" "0" "70" "20" "49508305" "49508305" "dup" "0" "01807" "ADNP_000068" "g.49508305dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50891768dup" "" "likely pathogenic" "" "0000379126" "0" "90" "20" "49520532" "49520532" "subst" "0" "02537" "ADNP_000069" "g.49520532A>G" "" "{PMID:Du 2018:30555518}" "" "Met1Thr" "" "De novo" "" "" "0" "" "" "g.50903995A>G" "" "pathogenic" "" "0000404701" "0" "90" "20" "49509063" "49509063" "subst" "0" "00006" "ADNP_000014" "g.49509063G>A" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "De novo" "" "" "0" "" "" "g.50892526G>A" "" "pathogenic" "ACMG" "0000569934" "0" "30" "20" "49508479" "49508479" "subst" "0.000312922" "01804" "ADNP_000073" "g.49508479C>G" "" "" "" "ADNP(NM_001282532.1):c.2772G>C (p.(Glu924Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50891942C>G" "" "likely benign" "" "0000569935" "0" "30" "20" "49508508" "49508508" "subst" "0.00215805" "01804" "ADNP_000074" "g.49508508C>T" "" "" "" "ADNP(NM_001282531.2):c.2743G>A (p.V915I), ADNP(NM_015339.2):c.2743G>A (p.(Val915Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50891971C>T" "" "likely benign" "" "0000569937" "0" "90" "20" "49508870" "49508870" "del" "0" "02329" "ADNP_000076" "g.49508870del" "" "" "" "ADNP(NM_001282531.3):c.2382delG (p.W794Cfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50892333del" "" "pathogenic" "" "0000569938" "0" "90" "20" "49509038" "49509038" "subst" "0" "02327" "ADNP_000056" "g.49509038G>C" "" "" "" "ADNP(NM_015339.2):c.2213C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50892501G>C" "" "pathogenic" "" "0000569939" "0" "90" "20" "49509069" "49509069" "dup" "0" "01943" "ADNP_000077" "g.49509069dup" "" "" "" "ADNP(NM_001282531.2):c.2187dupA (p.R730Tfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50892532dup" "" "pathogenic" "" "0000569940" "0" "90" "20" "49509095" "49509095" "dup" "0" "02329" "ADNP_000009" "g.49509095dup" "" "" "" "ADNP(NM_001282531.2):c.2156dupA (p.Y719*), ADNP(NM_001282531.3):c.2156dup (p.(Tyr719Ter)), ADNP(NM_001282531.3):c.2156dupA (p.Y719*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50892558dup" "" "pathogenic" "" "0000569941" "0" "50" "20" "49509326" "49509326" "subst" "0" "02327" "ADNP_000078" "g.49509326T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50892789T>C" "" "VUS" "" "0000569942" "0" "50" "20" "49509372" "49509372" "subst" "0" "01804" "ADNP_000079" "g.49509372A>C" "" "" "" "ADNP(NM_001282531.1):c.1879T>G (p.(Cys627Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50892835A>C" "" "VUS" "" "0000569944" "0" "30" "20" "49510014" "49510014" "subst" "0" "01804" "ADNP_000081" "g.49510014A>G" "" "" "" "ADNP(NM_015339.2):c.1237T>C (p.(Ser413Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50893477A>G" "" "likely benign" "" "0000569945" "0" "70" "20" "49510144" "49510144" "del" "0" "02327" "ADNP_000082" "g.49510144del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50893607del" "" "likely pathogenic" "" "0000569946" "0" "50" "20" "49510365" "49510365" "subst" "8.12618E-6" "02327" "ADNP_000083" "g.49510365G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50893828G>A" "" "VUS" "" "0000569947" "0" "90" "20" "49510421" "49510425" "del" "0" "01943" "ADNP_000084" "g.49510421_49510425del" "" "" "" "ADNP(NM_001282531.2):c.831_835delCAAGA (p.D277Efs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50893884_50893888del" "" "pathogenic" "" "0000569948" "0" "50" "20" "49510613" "49510613" "subst" "0" "02327" "ADNP_000085" "g.49510613G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50894076G>A" "" "VUS" "" "0000569949" "0" "90" "20" "49510646" "49510646" "dup" "0" "02329" "ADNP_000061" "g.49510646dup" "" "" "" "ADNP(NM_001282531.3):c.609dupA (p.S204Ifs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50894109dup" "" "pathogenic" "" "0000569951" "0" "50" "20" "49510782" "49510782" "subst" "0" "01804" "ADNP_000086" "g.49510782C>A" "" "" "" "ADNP(NM_015339.2):c.469G>T (p.(Ala157Ser)), ADNP(NM_015339.5):c.469G>T (p.A157S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50894245C>A" "" "VUS" "" "0000569953" "0" "70" "20" "49511043" "49511043" "subst" "0" "02329" "ADNP_000088" "g.49511043G>A" "" "" "" "ADNP(NM_001282531.3):c.208C>T (p.R70W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50894506G>A" "" "likely pathogenic" "" "0000569954" "0" "50" "20" "49518564" "49518564" "subst" "4.87726E-5" "01943" "ADNP_000089" "g.49518564G>A" "" "" "" "ADNP(NM_001282531.2):c.191C>T (p.T64M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50902027G>A" "" "VUS" "" "0000569956" "0" "10" "20" "49551779" "49551780" "ins" "0" "01943" "DPM1_000006" "g.49551779_49551780insA" "" "" "" "DPM1(NM_003859.1):c.679-7_679-6insT (p.(=)), DPM1(NM_003859.2):c.679-7_679-6insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50935242_50935243insA" "" "benign" "" "0000569957" "0" "30" "20" "49551780" "49551780" "subst" "0" "01804" "DPM1_000003" "g.49551780T>A" "" "" "" "DPM1(NM_003859.1):c.679-7A>T (p.(=)), DPM1(NM_003859.2):c.679-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50935243T>A" "" "likely benign" "" "0000569958" "0" "30" "20" "49551791" "49551792" "dup" "0" "01804" "DPM1_000007" "g.49551791_49551792dup" "" "" "" "DPM1(NM_003859.3):c.679-9_679-8dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50935254_50935255dup" "" "likely benign" "" "0000569959" "0" "30" "20" "49551792" "49551792" "dup" "0" "01804" "DPM1_000008" "g.49551792dup" "" "" "" "DPM1(NM_001317034.1):c.784-8dupT, DPM1(NM_003859.1):c.679-8dup (p.(=)), DPM1(NM_003859.2):c.679-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50935255dup" "" "likely benign" "" "0000618204" "0" "90" "20" "49510767" "49510767" "subst" "0" "01943" "ADNP_000032" "g.49510767G>A" "" "" "" "ADNP(NM_001282531.2):c.484C>T (p.Q162*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50894230G>A" "" "pathogenic" "" "0000618205" "0" "30" "20" "49510829" "49510831" "dup" "0" "02325" "ADNP_000092" "g.49510829_49510831dup" "" "" "" "ADNP(NM_001282531.3):c.422_424dup (p.(Ser141dup)), ADNP(NM_001282531.3):c.422_424dupGCA (p.S141dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50894292_50894294dup" "" "likely benign" "" "0000618206" "0" "30" "20" "49551779" "49551780" "ins" "0" "01804" "DPM1_000006" "g.49551779_49551780insA" "" "" "" "DPM1(NM_003859.1):c.679-7_679-6insT (p.(=)), DPM1(NM_003859.2):c.679-7_679-6insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50935242_50935243insA" "" "likely benign" "" "0000618207" "0" "50" "20" "49552688" "49552688" "subst" "0" "01943" "DPM1_000014" "g.49552688G>A" "" "" "" "DPM1(NM_001317034.1):c.780C>T (p.G260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50936151G>A" "" "VUS" "" "0000618208" "0" "30" "20" "49552733" "49552733" "subst" "0" "01804" "DPM1_000015" "g.49552733C>A" "" "" "" "DPM1(NM_003859.1):c.630G>T (p.(Gln210His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50936196C>A" "" "likely benign" "" "0000624169" "0" "30" "20" "49508508" "49508508" "subst" "0.00215805" "01943" "ADNP_000074" "g.49508508C>T" "" "" "" "ADNP(NM_001282531.2):c.2743G>A (p.V915I), ADNP(NM_015339.2):c.2743G>A (p.(Val915Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50891971C>T" "" "likely benign" "" "0000624170" "0" "90" "20" "49508797" "49508797" "subst" "0" "02325" "ADNP_000090" "g.49508797G>C" "" "" "" "ADNP(NM_001282531.3):c.2454C>G (p.Y818*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50892260G>C" "" "pathogenic" "" "0000624171" "0" "50" "20" "49509486" "49509486" "subst" "0" "01943" "ADNP_000091" "g.49509486C>G" "" "" "" "ADNP(NM_001282531.2):c.1765G>C (p.V589L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50892949C>G" "" "VUS" "" "0000665820" "0" "90" "20" "49509585" "49509585" "subst" "0" "01807" "ADNP_000093" "g.49509585G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50893048G>A" "" "pathogenic" "" "0000681637" "0" "90" "20" "49509095" "49509095" "dup" "0" "01943" "ADNP_000009" "g.49509095dup" "" "" "" "ADNP(NM_001282531.2):c.2156dupA (p.Y719*), ADNP(NM_001282531.3):c.2156dup (p.(Tyr719Ter)), ADNP(NM_001282531.3):c.2156dupA (p.Y719*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681638" "0" "70" "20" "49509196" "49509197" "del" "0" "01804" "ADNP_000094" "g.49509196_49509197del" "" "" "" "ADNP(NM_001282531.1):c.2054_2055delTT (p.(Val685Alafs*14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681639" "0" "30" "20" "49510194" "49510194" "subst" "0" "02327" "ADNP_000095" "g.49510194C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681640" "0" "50" "20" "49510233" "49510233" "subst" "2.43936E-5" "01943" "ADNP_000096" "g.49510233C>T" "" "" "" "ADNP(NM_001282531.2):c.1018G>A (p.G340S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681641" "0" "10" "20" "49551792" "49551792" "dup" "0" "01943" "DPM1_000008" "g.49551792dup" "" "" "" "DPM1(NM_001317034.1):c.784-8dupT, DPM1(NM_003859.1):c.679-8dup (p.(=)), DPM1(NM_003859.2):c.679-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692995" "0" "70" "20" "49508169" "49508170" "del" "0" "02325" "ADNP_000097" "g.49508169_49508170del" "" "" "" "ADNP(NM_015339.5):c.3081_3082delAT (p.W1028Efs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000704429" "0" "70" "20" "49510029" "49510030" "del" "0" "01164" "ADNP_000003" "g.49510029_49510030del" "" "PMID: 25169753; 24531329; 25418537; 30106381; 32661233" "" "" "ACMG: PVS1, PS2, PS4_moderat, PM2" "Germline/De novo (untested)" "?" "" "0" "" "" "g.50893492_50893493del" "" "pathogenic (dominant)" "ACMG" "0000727722" "0" "30" "20" "49508308" "49508308" "subst" "0.0010239" "01943" "ADNP_000098" "g.49508308C>A" "" "" "" "ADNP(NM_001282531.2):c.2943G>T (p.V981=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727723" "0" "70" "20" "49508621" "49508624" "del" "0" "02329" "ADNP_000054" "g.49508621_49508624del" "" "" "" "ADNP(NM_001282531.3):c.2630_2633delACAG (p.D877Vfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727724" "0" "90" "20" "49509097" "49509097" "del" "0" "02325" "ADNP_000099" "g.49509097del" "" "" "" "ADNP(NM_015339.5):c.2155delT (p.Y719Tfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727725" "0" "50" "20" "49509761" "49509761" "subst" "0" "02329" "ADNP_000080" "g.49509761T>C" "" "" "" "ADNP(NM_001282531.2):c.1490A>G (p.Y497C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727726" "0" "90" "20" "49509844" "49509848" "del" "0" "01943" "ADNP_000100" "g.49509844_49509848del" "" "" "" "ADNP(NM_001282531.2):c.1405_1409delCATAA (p.H469Sfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727727" "0" "90" "20" "49510712" "49510715" "del" "0" "02329" "ADNP_000018" "g.49510712_49510715del" "" "" "" "ADNP(NM_001282531.3):c.539_542delTTAG (p.V180Gfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727728" "0" "90" "20" "49520479" "49520480" "del" "0" "02329" "ADNP_000062" "g.49520479_49520480del" "" "" "" "ADNP(NM_001282531.3):c.56_57delTG (p.V19Efs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727729" "0" "50" "20" "49520488" "49520488" "subst" "0" "02329" "ADNP_000101" "g.49520488G>C" "" "" "" "ADNP(NM_015339.5):c.46C>G (p.R16G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000836781" "0" "70" "20" "49509063" "49509063" "subst" "0" "02494" "ADNP_000014" "g.49509063G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000837050" "0" "70" "20" "49509094" "49509094" "subst" "0" "02494" "ADNP_000039" "g.49509094G>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000855865" "0" "90" "20" "49509063" "49509067" "del" "0" "02327" "ADNP_000103" "g.49509063_49509067del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855866" "0" "90" "20" "49509585" "49509585" "subst" "0" "01943" "ADNP_000093" "g.49509585G>A" "" "" "" "ADNP(NM_001282531.2):c.1666C>T (p.Q556*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855867" "0" "10" "20" "49551792" "49551792" "dup" "0" "02326" "DPM1_000008" "g.49551792dup" "" "" "" "DPM1(NM_001317034.1):c.784-8dupT, DPM1(NM_003859.1):c.679-8dup (p.(=)), DPM1(NM_003859.2):c.679-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866528" "0" "50" "20" "49510837" "49510839" "del" "0" "01943" "ADNP_000104" "g.49510837_49510839del" "" "" "" "ADNP(NM_001282531.2):c.415_417delAGC (p.S139del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000877216" "0" "90" "20" "49508756" "49508759" "del" "0" "00006" "ADNP_000004" "g.49508756_49508759del" "" "{PMID:Monroe 2016:26845106}" "" "2496_2499delTAAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50892219_50892222del" "" "pathogenic (dominant)" "" "0000881243" "0" "90" "20" "49510599" "49510600" "del" "0" "02300" "ADNP_000105" "g.49510599_49510600del" "" "{PMID:Marinakis 2021:34008892}" "" "NM_181442.4:c.655_656delAG (Ser219Ter)" "ACMG PVS1, PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.50894062_50894063del" "" "pathogenic (dominant)" "ACMG" "0000895359" "0" "50" "20" "49508825" "49508827" "del" "0" "02325" "ADNP_000106" "g.49508825_49508827del" "" "" "" "ADNP(NM_015339.5):c.2428_2430delAAG (p.K810del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895360" "0" "30" "20" "49509486" "49509486" "subst" "0" "01804" "ADNP_000107" "g.49509486C>A" "" "" "" "ADNP(NM_015339.2):c.1765G>T (p.(Val589Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915400" "0" "30" "20" "49508234" "49508234" "subst" "8.13094E-6" "02325" "ADNP_000108" "g.49508234G>C" "" "" "" "ADNP(NM_015339.5):c.3017C>G (p.A1006G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927020" "0" "50" "20" "49509052" "49509054" "del" "0" "02325" "ADNP_000109" "g.49509052_49509054del" "" "" "" "ADNP(NM_015339.5):c.2203_2205delGAT (p.D735del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927021" "0" "50" "20" "49510782" "49510782" "subst" "0" "02325" "ADNP_000086" "g.49510782C>A" "" "" "" "ADNP(NM_015339.2):c.469G>T (p.(Ala157Ser)), ADNP(NM_015339.5):c.469G>T (p.A157S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931182" "0" "90" "20" "49508977" "49508977" "del" "0" "02329" "ADNP_000110" "g.49508977del" "" "" "" "ADNP(NM_001282531.3):c.2274delT (p.H759Mfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000936023" "0" "70" "20" "49507970" "49507970" "subst" "0" "00006" "ADNP_000111" "g.49507970C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PM5" "Germline/De novo (untested)" "" "" "0" "" "" "g.50891433C>T" "" "likely pathogenic (dominant)" "ACMG" "0000939801" "0" "90" "20" "49509095" "49509095" "dup" "0" "00006" "ADNP_000009" "g.49509095dup" "" "{PMID:Nambot 2018:29095811}" "" "2156_2157insA" "" "De novo" "" "" "0" "" "" "g.50892558dup" "" "pathogenic (dominant)" "" "0000983837" "0" "30" "20" "49510106" "49510106" "subst" "4.06577E-6" "01804" "ADNP_000112" "g.49510106G>A" "" "" "" "ADNP(NM_001282531.3):c.1145C>T (p.(Ser382Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987868" "0" "70" "20" "49508211" "49508211" "dup" "0" "01164" "ADNP_000023" "g.49508211dup" "" "" "" "" "PVS1_STR, PS4_MOD, PM2_SUP, inherited from mother which is reported to be healthy, truncated the C-terminal, several path variants in the C-terminal region are known to be inherited from mildly affected or not affected parents; PMID: 30564305, 29724491, 33004838" "Germline" "?" "" "0" "" "" "g.50891674dup" "" "likely pathogenic (dominant)" "ACMG" "0001005451" "0" "50" "20" "49507982" "49507982" "subst" "4.09712E-6" "01804" "ADNP_000113" "g.49507982C>G" "" "" "" "ADNP(NM_001282531.1):c.3269G>C (p.(Gly1090Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005452" "0" "30" "20" "49508560" "49508560" "subst" "8.13015E-6" "01804" "ADNP_000114" "g.49508560A>T" "" "" "" "ADNP(NM_001282532.1):c.2691T>A (p.(Phe897Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005453" "0" "70" "20" "49509023" "49509023" "del" "0" "01804" "ADNP_000115" "g.49509023del" "" "" "" "ADNP(NM_001282531.1):c.2229delA (p.(Glu744fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005454" "0" "50" "20" "49509327" "49509327" "subst" "0" "02325" "ADNP_000116" "g.49509327G>A" "" "" "" "ADNP(NM_015339.5):c.1924C>T (p.H642Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005455" "0" "30" "20" "49509443" "49509443" "subst" "1.2188E-5" "01804" "ADNP_000117" "g.49509443A>G" "" "" "" "ADNP(NM_001282532.1):c.1808T>C (p.(Ile603Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005456" "0" "50" "20" "49510052" "49510052" "subst" "4.06752E-6" "01804" "ADNP_000118" "g.49510052G>T" "" "" "" "ADNP(NM_001282532.1):c.1199C>A (p.(Ser400Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005457" "0" "30" "20" "49510288" "49510288" "subst" "8.12777E-6" "01804" "ADNP_000119" "g.49510288C>G" "" "" "" "ADNP(NM_001282531.1):c.963G>C (p.(Met321Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005458" "0" "30" "20" "49510406" "49510406" "subst" "2.03171E-5" "02325" "ADNP_000120" "g.49510406C>G" "" "" "" "ADNP(NM_015339.5):c.845G>C (p.G282A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005459" "0" "50" "20" "49510659" "49510659" "subst" "0" "01804" "ADNP_000121" "g.49510659C>T" "" "" "" "ADNP(NM_001282532.1):c.592G>A (p.(Ala198Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005460" "0" "30" "20" "49510845" "49510845" "subst" "0" "01804" "ADNP_000122" "g.49510845G>A" "" "" "" "ADNP(NM_001282532.1):c.406C>T (p.(Pro136Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011131" "0" "30" "20" "49508921" "49508921" "subst" "3.25108E-5" "00006" "ADNP_000123" "g.49508921T>C" "1/192 cases ASD" "{PMID:Kimura 2016:27595554}" "" "" "" "Germline" "" "" "0" "" "" "g.50892384T>C" "" "likely benign" "" "0001015869" "0" "50" "20" "49508539" "49508539" "dup" "0" "02329" "ADNP_000075" "g.49508539dup" "" "" "" "ADNP(NM_001282531.3):c.2712dupT (p.N905*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043401" "0" "30" "20" "49508015" "49508015" "subst" "0.0002287" "01804" "ADNP_000125" "g.49508015T>C" "" "" "" "ADNP(NM_001282531.3):c.3236A>G (p.(Asn1079Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043402" "0" "30" "20" "49508046" "49508046" "subst" "0" "01804" "ADNP_000126" "g.49508046T>C" "" "" "" "ADNP(NM_001282531.3):c.3205A>G (p.(Ile1069Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043403" "0" "30" "20" "49508683" "49508683" "subst" "0.0363755" "01804" "ADNP_000127" "g.49508683G>A" "" "" "" "ADNP(NM_001282531.3):c.2568C>T (p.(Val856=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043404" "0" "30" "20" "49508776" "49508776" "subst" "0.00535616" "01804" "ADNP_000128" "g.49508776C>A" "" "" "" "ADNP(NM_001282531.3):c.2475G>T (p.(Gly825=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043405" "0" "90" "20" "49509095" "49509095" "dup" "0" "01804" "ADNP_000009" "g.49509095dup" "" "" "" "ADNP(NM_001282531.2):c.2156dupA (p.Y719*), ADNP(NM_001282531.3):c.2156dup (p.(Tyr719Ter)), ADNP(NM_001282531.3):c.2156dupA (p.Y719*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043406" "0" "30" "20" "49509175" "49509175" "subst" "0.0205739" "01804" "ADNP_000129" "g.49509175C>T" "" "" "" "ADNP(NM_001282531.3):c.2076G>A (p.(Lys692=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043407" "0" "50" "20" "49509204" "49509204" "subst" "0" "01804" "ADNP_000130" "g.49509204G>A" "" "" "" "ADNP(NM_001282531.3):c.2047C>T (p.(His683Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043408" "0" "30" "20" "49509536" "49509536" "subst" "4.06279E-6" "01804" "ADNP_000131" "g.49509536C>T" "" "" "" "ADNP(NM_001282531.3):c.1715G>A (p.(Arg572Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043409" "0" "70" "20" "49509567" "49509570" "dup" "0" "01804" "ADNP_000132" "g.49509567_49509570dup" "" "" "" "ADNP(NM_001282531.3):c.1681_1684dup (p.(Ile562Lysfs*17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043410" "0" "30" "20" "49510427" "49510427" "subst" "0" "01804" "ADNP_000133" "g.49510427G>A" "" "" "" "ADNP(NM_001282531.3):c.824C>T (p.(Pro275Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043411" "0" "30" "20" "49510829" "49510831" "dup" "0" "01804" "ADNP_000092" "g.49510829_49510831dup" "" "" "" "ADNP(NM_001282531.3):c.422_424dup (p.(Ser141dup)), ADNP(NM_001282531.3):c.422_424dupGCA (p.S141dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046783" "0" "90" "20" "49510434" "49510434" "dup" "0" "02325" "ADNP_000134" "g.49510434dup" "" "" "" "ADNP(NM_015339.5):c.819dupC (p.K274Qfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 ADNP ## Count = 171 "{{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}}" "0000055961" "00024223" "00" "2496" "0" "2499" "0" "c.2496_2499del" "r.(?)" "p.(Asn832Lysfs*81)" "5" "0000055962" "00024223" "00" "1211" "0" "1211" "0" "c.1211C>A" "r.(?)" "p.(Ser404*)" "5" "0000055963" "00024223" "00" "1222" "0" "1223" "0" "c.1222_1223del" "r.(?)" "p.(Lys408Valfs*31)" "5" "0000055964" "00024223" "00" "2153" "0" "2165" "0" "c.2153_2165del" "r.(?)" "p.(Thr718Argfs*6)" "5" "0000055965" "00024223" "00" "2157" "0" "2157" "0" "c.2157C>G" "r.(?)" "p.(Tyr719*)" "5" "0000055966" "00024223" "00" "2491" "0" "2494" "0" "c.2491_2494del" "r.(?)" "p.(Leu831Ilefs*82)" "5" "0000055967" "00024223" "00" "2808" "0" "2808" "0" "c.2808del" "r.(?)" "p.(Tyr936*)" "5" "0000055968" "00024223" "00" "2491" "0" "2494" "0" "c.2491_2494del" "r.(?)" "p.(Leu831Ilefs*82)" "5" "0000055969" "00024223" "00" "1930" "0" "1930" "0" "c.1930C>T" "r.(?)" "p.(Arg644*)" "5" "0000055970" "00024223" "00" "2156" "0" "2156" "0" "c.2156dup" "r.(?)" "p.(Tyr719*)" "5" "0000055980" "00024223" "00" "2157" "0" "2157" "0" "c.2157C>G" "r.(?)" "p.(Tyr719*)" "5" "0000055981" "00024223" "00" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Gln40*)" "4" "0000055982" "00024223" "00" "1046" "0" "1047" "0" "c.1046_1047del" "r.(?)" "p.(Leu349Argfs*49)" "5" "0000055983" "00024223" "00" "2496" "0" "2499" "0" "c.2496_2499del" "r.(?)" "p.(Asn832Lysfs*81)" "5" "0000055984" "00024223" "00" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173*)" "5" "0000055985" "00024223" "00" "2496" "0" "2499" "0" "c.2496_2499del" "r.(?)" "p.(Asn832Lysfs*81)" "5" "0000055986" "00024223" "00" "339" "0" "339" "0" "c.339del" "r.(?)" "p.(Phe114Serfs*47)" "5" "0000055987" "00024223" "00" "2496" "0" "2499" "0" "c.2496_2499del" "r.(?)" "p.(Asn832Lysfs*81)" "5" "0000055988" "00024223" "00" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Arg730*)" "5" "0000055991" "00024223" "00" "1026" "0" "1026" "0" "c.1026dup" "r.(?)" "p.(Val343Cysfs*56)" "5" "0000055992" "00024223" "00" "3170" "0" "3170" "0" "c.3170T>A" "r.(?)" "p.(Leu1057*)" "5" "0000055993" "00024223" "00" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Arg730*)" "5" "0000056283" "00024223" "00" "2157" "0" "2157" "0" "c.2157C>G" "r.(?)" "p.(Tyr719*)" "5" "0000058546" "00024223" "00" "2491" "0" "2494" "0" "c.2491_2494del" "r.(?)" "p.(Leu831Ilefs*82)" "5" "0000061123" "00024223" "00" "2157" "0" "2157" "0" "c.2157C>G" "r.(?)" "p.(Tyr719*)" "5" "0000061124" "00024223" "99" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216*)" "5" "0000061764" "00024223" "00" "539" "0" "542" "0" "c.539_542del" "r.(?)" "p.(Val180Glyfs*17)" "5" "0000064826" "00024223" "00" "2129" "0" "2129" "0" "c.2129dup" "r.(?)" "p.(Ser711Lysfs*24)" "5" "0000066462" "00024223" "00" "2496" "0" "2499" "0" "c.2496_2499del" "r.(?)" "p.(Asn832Lysfs*81)" "5" "0000066671" "00024223" "00" "2312" "0" "2312" "0" "c.2312del" "r.(?)" "p.(Leu771Glnfs*19)" "5" "0000066983" "00024223" "00" "2496" "0" "2499" "0" "c.2496_2499del" "r.(?)" "p.(Asn832Lysfs*81)" "5" "0000066984" "00024223" "00" "3047" "0" "3047" "0" "c.3047dup" "r.(?)" "p.(Ala1017Glyfs*6)" "5" "0000071789" "00024223" "00" "2157" "0" "2157" "0" "c.2157C>G" "r.(?)" "p.(Tyr719*)" "5" "0000071790" "00024223" "00" "2157" "0" "2157" "0" "c.2157C>G" "r.(?)" "p.(Tyr719*)" "5" "0000079329" "00024223" "00" "1220" "0" "1222" "0" "c.1220_1222del" "r.(?)" "p.(Leu407*)" "5" "0000079344" "00024223" "00" "2154" "0" "2155" "0" "c.2154_2155delinsA" "r.(?)" "p.(Tyr719Thrfs*9)" "5" "0000079573" "00024223" "00" "2492" "0" "2496" "0" "c.2492_2496del" "r.(?)" "p.(Leu831*)" "5" "0000079613" "00024223" "00" "2492" "0" "2496" "0" "c.2492_2496del" "r.(?)" "p.(Leu831*)" "5" "0000097054" "00024223" "00" "2496" "0" "2499" "0" "c.2496_2499del" "r.(?)" "p.(Asn832Lysfs*81)" "5" "0000127893" "00024223" "00" "2089" "0" "2089" "0" "c.2089C>T" "r.(?)" "p.(Gln697*)" "5" "0000127894" "00024223" "00" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225*)" "5" "0000127895" "00024223" "00" "2129" "0" "2129" "0" "c.2129del" "r.(?)" "p.(Pro710Glnfs*6)" "5" "0000127896" "00024223" "00" "3069" "0" "3072" "0" "c.3069_3072del" "r.(?)" "p.(Arg1023Serfs*3)" "5" "0000127897" "00024223" "00" "2287" "0" "2287" "0" "c.2287del" "r.(?)" "p.(Ser763Profs*9)" "5" "0000127898" "00024223" "00" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Gln162*)" "5" "0000127899" "00024223" "00" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "3" "0000127907" "00024223" "00" "1134" "0" "1134" "0" "c.1134T>G" "r.(?)" "p.(Tyr378*)" "5" "0000127908" "00024223" "00" "2206" "0" "2206" "0" "c.2206dup" "r.(?)" "p.(Ser736Lysfs*2)" "5" "0000127909" "00024223" "00" "1235" "0" "1235" "0" "c.1235del" "r.(?)" "p.(Leu412Profs*10)" "5" "0000127910" "00024223" "00" "2268" "0" "2269" "0" "c.2268_2269insT" "r.(?)" "p.(Lys757*)" "5" "0000127911" "00024223" "00" "372" "0" "373" "0" "c.372_373del" "r.(?)" "p.(Ile125*)" "5" "0000127930" "00024223" "00" "2157" "0" "2157" "0" "c.2157C>A" "r.(?)" "p.(Tyr719*)" "5" "0000127931" "00024223" "00" "1216" "0" "1216" "0" "c.1216del" "r.(?)" "p.(Gln406Serfs*2)" "5" "0000127932" "00024223" "00" "1184" "0" "1190" "0" "c.1184_1190del" "r.(?)" "p.(Gln395Leufs*11)" "5" "0000127933" "00024223" "00" "2495" "0" "2499" "0" "c.2495_2499del" "r.(?)" "p.(Asn832Serfs*4)" "5" "0000127934" "00024223" "00" "819" "0" "819" "0" "c.819del" "r.(?)" "p.(Lys274Asnfs*31)" "5" "0000127935" "00024223" "00" "190" "0" "190" "0" "c.190dup" "r.(?)" "p.(Thr64Asnfs*35)" "4" "0000127936" "00024223" "00" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Gln345*)" "5" "0000127937" "00024223" "00" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225*)" "5" "0000127938" "00024223" "00" "651" "0" "655" "0" "c.651_655del" "r.(?)" "p.(Glu218*)" "5" "0000130154" "00024223" "00" "2157" "0" "2157" "0" "c.2157del" "r.(?)" "p.(Tyr719*)" "5" "0000223228" "00024223" "90" "2187" "0" "2187" "0" "c.2187del" "r.(?)" "p.(Lys729Asnfs*4)" "" "0000223762" "00024223" "90" "2327" "0" "2327" "0" "c.2327dup" "r.(?)" "p.(Asn776Lysfs*12)" "" "0000225071" "00024223" "90" "-1" "0" "2575" "0" "c.(?_-1)_(2575_*50086)del" "r.0" "p.0" "_1_5" "0000236486" "00024223" "90" "1652" "0" "1653" "0" "c.1652_1653del" "r.(?)" "p.(Asp551Valfs*7)" "" "0000260035" "00024223" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Lys279ArgfsTer26)" "" "0000262043" "00024223" "90" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Arg730Ter)" "" "0000262044" "00024223" "30" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Pro779=)" "" "0000262045" "00024223" "30" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(Met303Ile)" "" "0000275497" "00024223" "10" "-4598" "0" "-4598" "0" "c.-4598A>T" "r.(?)" "p.(=)" "" "0000328485" "00024223" "50" "2872" "0" "2872" "0" "c.2872G>A" "r.(?)" "p.(Asp958Asn)" "" "0000328486" "00024223" "50" "2213" "0" "2213" "0" "c.2213C>G" "r.(?)" "p.(Ser738Ter)" "" "0000339128" "00024223" "90" "2427" "0" "2427" "0" "c.2427dup" "r.(?)" "p.(Lys810GlufsTer5)" "" "0000342462" "00024223" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Ter)" "" "0000343314" "00024223" "90" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Arg730Ter)" "" "0000343601" "00024223" "90" "445" "0" "446" "0" "c.445_446del" "r.(?)" "p.(Asn149Ter)" "" "0000347359" "00024223" "50" "3047" "0" "3048" "0" "c.3047_3048insT" "r.(?)" "p.(Lys1016AsnfsTer7)" "" "0000347705" "00024223" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000348990" "00024223" "90" "1211" "0" "1211" "0" "c.1211C>A" "r.(?)" "p.(Ser404Ter)" "" "0000350066" "00024223" "70" "1134" "0" "1134" "0" "c.1134T>G" "r.(?)" "p.(Tyr378Ter)" "" "0000350182" "00024223" "90" "2157" "0" "2157" "0" "c.2157C>G" "r.(?)" "p.(Tyr719Ter)" "" "0000356922" "00024223" "70" "2946" "0" "2946" "0" "c.2946dup" "r.(?)" "p.(Asp983Argfs*3)" "" "0000379126" "00024223" "90" "2" "0" "2" "0" "c.2T>C" "r.(2u>c)" "p.0?" "" "0000404701" "00024223" "90" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Arg730*)" "5" "0000569934" "00024223" "30" "2772" "0" "2772" "0" "c.2772G>C" "r.(?)" "p.(Glu924Asp)" "" "0000569935" "00024223" "30" "2743" "0" "2743" "0" "c.2743G>A" "r.(?)" "p.(Val915Ile)" "" "0000569937" "00024223" "90" "2382" "0" "2382" "0" "c.2382del" "r.(?)" "p.(Trp794CysfsTer35)" "" "0000569938" "00024223" "90" "2213" "0" "2213" "0" "c.2213C>G" "r.(?)" "p.(Ser738Ter)" "" "0000569939" "00024223" "90" "2187" "0" "2187" "0" "c.2187dup" "r.(?)" "p.(Arg730ThrfsTer5)" "" "0000569940" "00024223" "90" "2156" "0" "2156" "0" "c.2156dup" "r.(?)" "p.(Tyr719Ter)" "" "0000569941" "00024223" "50" "1925" "0" "1925" "0" "c.1925A>G" "r.(?)" "p.(His642Arg)" "" "0000569942" "00024223" "50" "1879" "0" "1879" "0" "c.1879T>G" "r.(?)" "p.(Cys627Gly)" "" "0000569944" "00024223" "30" "1237" "0" "1237" "0" "c.1237T>C" "r.(?)" "p.(Ser413Pro)" "" "0000569945" "00024223" "70" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Leu369PhefsTer39)" "" "0000569946" "00024223" "50" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Arg296Trp)" "" "0000569947" "00024223" "90" "831" "0" "835" "0" "c.831_835del" "r.(?)" "p.(Asp277GlufsTer35)" "" "0000569948" "00024223" "50" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Ser213Leu)" "" "0000569949" "00024223" "90" "609" "0" "609" "0" "c.609dup" "r.(?)" "p.(Ser204IlefsTer17)" "" "0000569951" "00024223" "50" "469" "0" "469" "0" "c.469G>T" "r.(?)" "p.(Ala157Ser)" "" "0000569953" "00024223" "70" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70Trp)" "" "0000569954" "00024223" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Thr64Met)" "" "0000569956" "00024223" "10" "-4598" "0" "-4597" "0" "c.-4598_-4597insT" "r.(?)" "p.(=)" "" "0000569957" "00024223" "30" "-4598" "0" "-4598" "0" "c.-4598A>T" "r.(?)" "p.(=)" "" "0000569958" "00024223" "30" "-4600" "0" "-4599" "0" "c.-4600_-4599dup" "r.(?)" "p.(=)" "" "0000569959" "00024223" "30" "-4599" "0" "-4599" "0" "c.-4599dup" "r.(?)" "p.(=)" "" "0000618204" "00024223" "90" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Gln162Ter)" "" "0000618205" "00024223" "30" "422" "0" "424" "0" "c.422_424dup" "r.(?)" "p.(Ser141dup)" "" "0000618206" "00024223" "30" "-4598" "0" "-4597" "0" "c.-4598_-4597insT" "r.(?)" "p.(=)" "" "0000618207" "00024223" "50" "-5506" "0" "-5506" "0" "c.-5506C>T" "r.(?)" "p.(=)" "" "0000618208" "00024223" "30" "-5551" "0" "-5551" "0" "c.-5551G>T" "r.(?)" "p.(=)" "" "0000624169" "00024223" "30" "2743" "0" "2743" "0" "c.2743G>A" "r.(?)" "p.(Val915Ile)" "" "0000624170" "00024223" "90" "2454" "0" "2454" "0" "c.2454C>G" "r.(?)" "p.(Tyr818Ter)" "" "0000624171" "00024223" "50" "1765" "0" "1765" "0" "c.1765G>C" "r.(?)" "p.(Val589Leu)" "" "0000665820" "00024223" "90" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Gln556*)" "" "0000681637" "00024223" "90" "2156" "0" "2156" "0" "c.2156dup" "r.(?)" "p.(Tyr719Ter)" "" "0000681638" "00024223" "70" "2054" "0" "2055" "0" "c.2054_2055del" "r.(?)" "p.(Val685AlafsTer14)" "" "0000681639" "00024223" "30" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Gly353Ser)" "" "0000681640" "00024223" "50" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Gly340Ser)" "" "0000681641" "00024223" "10" "-4599" "0" "-4599" "0" "c.-4599dup" "r.(?)" "p.(=)" "" "0000692995" "00024223" "70" "3081" "0" "3082" "0" "c.3081_3082del" "r.(?)" "p.(Trp1028GlufsTer3)" "" "0000704429" "00024223" "70" "1222" "0" "1223" "0" "c.1222_1223del" "r.(?)" "p.(Lys408Valfs*31)" "6" "0000727722" "00024223" "30" "2943" "0" "2943" "0" "c.2943G>T" "r.(?)" "p.(Val981=)" "" "0000727723" "00024223" "70" "2630" "0" "2633" "0" "c.2630_2633del" "r.(?)" "p.(Asp877ValfsTer36)" "" "0000727724" "00024223" "90" "2155" "0" "2155" "0" "c.2155del" "r.(?)" "p.(Tyr719Thrfs*9)" "" "0000727725" "00024223" "50" "1490" "0" "1490" "0" "c.1490A>G" "r.(?)" "p.(Tyr497Cys)" "" "0000727726" "00024223" "90" "1405" "0" "1409" "0" "c.1405_1409del" "r.(?)" "p.(His469Serfs*2)" "" "0000727727" "00024223" "90" "539" "0" "542" "0" "c.539_542del" "r.(?)" "p.(Val180GlyfsTer17)" "" "0000727728" "00024223" "90" "56" "0" "57" "0" "c.56_57del" "r.(?)" "p.(Val19GlufsTer5)" "" "0000727729" "00024223" "50" "46" "0" "46" "0" "c.46C>G" "r.(?)" "p.(Arg16Gly)" "" "0000836781" "00024223" "70" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Arg730*)" "" "0000837050" "00024223" "70" "2157" "0" "2157" "0" "c.2157C>A" "r.(?)" "p.(Tyr719*)" "" "0000855865" "00024223" "90" "2184" "0" "2188" "0" "c.2184_2188del" "r.(?)" "p.(Arg730Valfs*3)" "" "0000855866" "00024223" "90" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Gln556*)" "" "0000855867" "00024223" "10" "-4599" "0" "-4599" "0" "c.-4599dup" "r.(?)" "p.(=)" "" "0000866528" "00024223" "50" "415" "0" "417" "0" "c.415_417del" "r.(?)" "p.(Ser139del)" "" "0000877216" "00024223" "90" "2496" "0" "2499" "0" "c.2496_2499del" "r.(?)" "p.(Asn832Lysfs*81)" "" "0000881243" "00024223" "90" "651" "0" "652" "0" "c.651_652del" "r.(?)" "p.(Ser219*)" "" "0000895359" "00024223" "50" "2428" "0" "2430" "0" "c.2428_2430del" "r.(?)" "p.(Lys810del)" "" "0000895360" "00024223" "30" "1765" "0" "1765" "0" "c.1765G>T" "r.(?)" "p.(Val589Phe)" "" "0000915400" "00024223" "30" "3017" "0" "3017" "0" "c.3017C>G" "r.(?)" "p.(Ala1006Gly)" "" "0000927020" "00024223" "50" "2203" "0" "2205" "0" "c.2203_2205del" "r.(?)" "p.(Asp735del)" "" "0000927021" "00024223" "50" "469" "0" "469" "0" "c.469G>T" "r.(?)" "p.(Ala157Ser)" "" "0000931182" "00024223" "90" "2274" "0" "2274" "0" "c.2274del" "r.(?)" "p.(His759Metfs*13)" "" "0000936023" "00024223" "70" "3281" "0" "3281" "0" "c.3281G>A" "r.(?)" "p.(Gly1094Glu)" "" "0000939801" "00024223" "90" "2156" "0" "2156" "0" "c.2156dup" "r.(?)" "p.(Tyr719Ter)" "4" "0000983837" "00024223" "30" "1145" "0" "1145" "0" "c.1145C>T" "r.(?)" "p.(Ser382Leu)" "" "0000987868" "00024223" "70" "3047" "0" "3047" "0" "c.3047dup" "r.(?)" "p.(Ala1017Glyfs*6)" "" "0001005451" "00024223" "50" "3269" "0" "3269" "0" "c.3269G>C" "r.(?)" "p.(Gly1090Ala)" "" "0001005452" "00024223" "30" "2691" "0" "2691" "0" "c.2691T>A" "r.(?)" "p.(Phe897Leu)" "" "0001005453" "00024223" "70" "2229" "0" "2229" "0" "c.2229del" "r.(?)" "p.(Glu744Argfs*9)" "" "0001005454" "00024223" "50" "1924" "0" "1924" "0" "c.1924C>T" "r.(?)" "p.(His642Tyr)" "" "0001005455" "00024223" "30" "1808" "0" "1808" "0" "c.1808T>C" "r.(?)" "p.(Ile603Thr)" "" "0001005456" "00024223" "50" "1199" "0" "1199" "0" "c.1199C>A" "r.(?)" "p.(Ser400Tyr)" "" "0001005457" "00024223" "30" "963" "0" "963" "0" "c.963G>C" "r.(?)" "p.(Met321Ile)" "" "0001005458" "00024223" "30" "845" "0" "845" "0" "c.845G>C" "r.(?)" "p.(Gly282Ala)" "" "0001005459" "00024223" "50" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Ala198Thr)" "" "0001005460" "00024223" "30" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Pro136Ser)" "" "0001011131" "00024223" "50" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.(Lys777Arg)" "" "0001015869" "00024223" "50" "2712" "0" "2712" "0" "c.2712dup" "r.(?)" "p.(Asn905Ter)" "" "0001043401" "00024223" "30" "3236" "0" "3236" "0" "c.3236A>G" "r.(?)" "p.(Asn1079Ser)" "" "0001043402" "00024223" "30" "3205" "0" "3205" "0" "c.3205A>G" "r.(?)" "p.(Ile1069Val)" "" "0001043403" "00024223" "30" "2568" "0" "2568" "0" "c.2568C>T" "r.(?)" "p.(=)" "" "0001043404" "00024223" "30" "2475" "0" "2475" "0" "c.2475G>T" "r.(?)" "p.(=)" "" "0001043405" "00024223" "90" "2156" "0" "2156" "0" "c.2156dup" "r.(?)" "p.(Tyr719Ter)" "" "0001043406" "00024223" "30" "2076" "0" "2076" "0" "c.2076G>A" "r.(?)" "p.(=)" "" "0001043407" "00024223" "50" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(His683Tyr)" "" "0001043408" "00024223" "30" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Lys)" "" "0001043409" "00024223" "70" "1681" "0" "1684" "0" "c.1681_1684dup" "r.(?)" "p.(Ile562Lysfs*17)" "" "0001043410" "00024223" "30" "824" "0" "824" "0" "c.824C>T" "r.(?)" "p.(Pro275Leu)" "" "0001043411" "00024223" "30" "422" "0" "424" "0" "c.422_424dup" "r.(?)" "p.(Ser141dup)" "" "0001046783" "00024223" "90" "819" "0" "819" "0" "c.819dup" "r.(?)" "p.(Lys274Glnfs*40)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 78 "{{screeningid}}" "{{variantid}}" "0000029871" "0000055961" "0000029873" "0000055962" "0000029875" "0000055963" "0000029877" "0000055964" "0000029879" "0000055965" "0000029880" "0000055966" "0000029881" "0000055966" "0000029883" "0000055967" "0000029885" "0000055968" "0000029887" "0000055969" "0000029889" "0000055970" "0000029896" "0000055980" "0000029898" "0000055981" "0000029900" "0000055982" "0000029902" "0000055983" "0000029905" "0000055984" "0000029907" "0000055985" "0000029909" "0000055986" "0000029911" "0000055987" "0000029913" "0000055988" "0000029917" "0000055991" "0000029919" "0000055992" "0000029921" "0000055993" "0000030205" "0000056283" "0000032419" "0000058546" "0000034114" "0000061123" "0000034116" "0000061124" "0000034646" "0000061764" "0000037676" "0000064826" "0000038782" "0000066462" "0000038875" "0000066671" "0000038998" "0000066983" "0000039000" "0000066984" "0000044002" "0000071789" "0000044004" "0000071790" "0000050349" "0000079329" "0000050364" "0000079344" "0000050593" "0000079573" "0000050633" "0000079613" "0000079262" "0000127893" "0000079263" "0000127894" "0000079264" "0000127895" "0000079265" "0000127896" "0000079266" "0000127897" "0000079267" "0000127898" "0000079268" "0000127899" "0000079269" "0000127907" "0000079270" "0000127908" "0000079271" "0000127909" "0000079272" "0000127910" "0000079273" "0000127911" "0000079274" "0000127930" "0000079293" "0000127931" "0000079294" "0000127932" "0000079295" "0000127933" "0000079296" "0000127934" "0000079297" "0000127935" "0000079298" "0000127936" "0000079299" "0000127937" "0000079300" "0000127938" "0000081068" "0000130154" "0000133800" "0000223228" "0000134084" "0000223762" "0000134877" "0000225071" "0000145373" "0000236486" "0000155837" "0000356922" "0000168988" "0000379126" "0000181065" "0000404701" "0000302530" "0000665820" "0000321537" "0000704429" "0000392995" "0000836781" "0000402813" "0000837050" "0000417521" "0000877216" "0000420884" "0000881243" "0000439894" "0000936023" "0000441859" "0000939801" "0000453289" "0000987868" "0000456769" "0001011131"