### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDR47) # 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}}" "WDR47" "WD repeat domain 47" "1" "p13.3" "unknown" "NC_000001.10" "UD_133485064530" "" "https://www.LOVD.nl/WDR47" "" "1" "29141" "22911" "615734" "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/WDR47_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-12-19 14:13:38" "00006" "2024-12-27 15:51:50" ## 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}}" "00025892" "WDR47" "transcript variant 3" "002" "NM_001142551.1" "" "NP_001136023.1" "" "" "" "-376" "3976" "2760" "109584850" "109512836" "00006" "2023-12-19 14:12:38" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00443775" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}, {PMID:Happ 2023:36307226}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Netherlands" "00y11m" "0" "" "" "" "Pat532;Pat15" "00444098" "" "" "" "1" "" "04613" "2-generation family, affected fetus/boy, unaffected heterozygous carrier parents" "{PMID:Bayam 2024:39609633}" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Fam3PatII2" "00444146" "" "" "" "1" "" "02396" "" "" "M" "no" "Japan" "" "0" "" "" "" "" "00459416" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "3-generation family, 3 affected, unaffected heterozygous carrier parents, older sister (PatII1) 7d-deceased" "M" "yes" "Sudan" "1d" "0" "" "" "" "Fam1PatII3" "00459417" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "brother" "M" "yes" "Sudan" "2d" "0" "" "" "" "Fam1PatII4" "00459418" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Fam2PatII3" "00459419" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Italy" "" "0" "" "" "Cilento" "Fam4PatII1" "00459420" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "sister" "F" "yes" "Italy" "" "0" "" "" "Cilento" "Fam4PatII3" "00459421" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Brazil" "" "0" "" "" "Minas Gerais" "Fam5PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00443775" "00198" "00444098" "00198" "00444146" "05611" "00459416" "05611" "00459417" "05611" "00459418" "05611" "00459419" "05611" "00459420" "05611" "00459421" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611 ## Count = 9 "{{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}}" "0000333049" "00198" "00443775" "00006" "Isolated (sporadic)" "00y11m" "see paper; ..., 11m-deceased; developmental and epileptic encephalopathy, early infantile developmental and epileptic encephalopathy; 3m:-tonic-clonic seizure; epileptic spasm, myoclonic seizure; 1d-hypotonia, global developmental delay, 4m-regression; profound developmental delay; MRI brain 9d-normal, 3-delayed myelination, mild cerebral atrophy" "" "" "" "" "" "" "" "" "DEE112" "hyperekplexia, dysmorphic features" "" "0000333400" "05611" "00444146" "02396" "Isolated (sporadic)" "" "HP:0002079, HP:0000252, HP:0000271, HP:0001249, HP:0001250" "" "" "" "" "" "" "" "" "" "" "" "0000337675" "00198" "00444098" "04613" "Familial, autosomal recessive" "03y03m" "see paper; ..., pregnancy unremarkable; birth term, C-section, weight 3.09kg, length 52cm, OFC 34cm (-0.9 SD); weight 10.5kg (-2.98 SD), length 92cm (-1.32 SD), OFC 44cm (-3.7 SD); global developmental delay; not walking; no clear words; MRI brain 1y-widening bilateral ventricles, basal cisterns and cereberal cortical sulci suggestive of global brain volume loss, periventricular abnormal high signal intensity FLAIR, T1 and T2-weighted images suggestive of periventricular leukomalacia, bbrain appears small in size (microcephaly), corpus callosum very thin; EEG slow background activity, generalized and predominantly anterior spikes of epileptic discharge; no coordination; initial infantile hypotonia progressed to hypertonia/spasticity; hyperreflexia; not able to stand or walk; normal sensory; profound intellectual disability; myoclonic seizures then mixed seizures; persistent head lag, abnormality of ocular smooth pursuit; hypertelorism, medial flaring eye browes, thick upper and lower lips, elevated ear lobules, low auricle; flexion deformity at both ankles/wrists; no anomalies digestive organs; no hert defects; mild hydronephrotic changes in infantile period with normal renal biochemical function; older sibling 6y-deceased, severe neurodevelopmental disease, seizures" "" "" "" "" "" "" "" "" "microcephaly" "lissencephaly" "" "0000347492" "05611" "00459416" "00006" "Familial, autosomal recessive" "1d" "see paper; ..., 1d-deceased; birth 37w, elective C-section, weight 2.5kg, OFC 32cm (-1 SD); MRI brain agenesis corpus callosum, microcephaly, pontocerebellar hypoplasia, dilated ventricular system, simplified gyral pattern; hyperreflexia; seizures 20-gw intrauterine, 1d myoclonic convulsions immediately after birth; no obvious facial dysmorphism" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000347493" "05611" "00459417" "00006" "Familial, autosomal recessive" "2d" "see paper; ..., 2d-deceased; birth 36w, elective C-section, weight 2.3kg, OFC 32cm (-1 SD); MRI brain agenesis corpus callosum, microcephaly, pontocerebellar hypoplasia, dilated ventricular system, simplified gyral pattern; hyperreflexia; seizures 20-gw intrauterine, 1d myoclonic convulsions immediately after birth; no obvious facial dysmorphism" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000347494" "05611" "00459418" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., fetal movements weakened 1w before delivery, normal delivery; birth 38w6d, no asphyxia, apgar 8. Unable to breastfeed until 2w, infused with milk, weight 2.77kg, length 49cm, OFC 31.5cm (-1.1 SD); weight 11.8kg (-3.1 SD), length 123cm (-3.4 SD), OFC 45cm (-5.9 SD); profound global developmental delay; bedridden; speech no meaningful words; growth failure, recurrent vomiting neonatal period; CT scan 8d-transient epidural hematoma,12y-abnormality; MRI brain 9y9m-bilateral periventricular nodular heterotopia, microcephaly, enlargement lateral ventricles, corpus callosum hypoplasia; EEG 14y-sporadic focal waves focal at F4; bradykinesia; hypotonia; no hyperreflexia; ataxia slightly recognized in sitting position; profound intellectual disability; 11y-status epilepticus seizures due to acute encephalopathy; poor eye contact, hypersensitivity on face/limbs; ocular pursuit (+), normal tendon reflex, no abnormal reflex; widely spaced eyes, epicanthus, tented upper lip, short philtrum; pes varus, mild ankle joint contracture; small appetite, frequent vomiting due to gastroesophageal reflux; no hert defects; right testis elevated, remained in abdominal cavity" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000347495" "05611" "00459419" "00006" "Familial, autosomal recessive" "1y5m" "see paperp; C-section due to failure dilatation uterine cervix; birth 40w, elective C-section, weight 3.52kg, length 52cm, OFC 35cm; weight 8,6kg (-1 SD), length 78cm (+1.5 SD), OFC 42.9cm (-2.69 SD); profound global development delay; bedridden; speech global hyporeactivity; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000347496" "05611" "00459420" "00006" "Familial, autosomal recessive" "6m" "see paper; ..., pregnancy unremarkable; birth 40w, elective C-section, weight 3.35kg, length 51cm, OFC 35cm; weight 5kg (-1 SD), length 70cm (+1 SD), OFC 40cm (-1.93 SD); profound global development dela; bedridden; speech no meaningful words; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000347497" "05611" "00459421" "00006" "Familial, autosomal recessive" "2y5m" "see paper; ..., gestational diabetes 3rd trimester (dietary treatment), normal fetal movements, 4m-gestational ultrassound ventriculomegaly; birth 39w, C-section, weight 3.02kg, length 50.8cm, OFC 33cm; weight 14.2kg (+0.54 SD), length 94cm (+0.85 SD), OFC 46.5cm (-1.73 SD); global developmental delay, only sustains neck; no sit, no walk; no speech, only sounds; prenatal ventriculomegaly; MRI brain head circumference, reduced white matter, hypoplastic corpus callosum and reduced brainstem volume, ventriculomegaly without hydrocephalus, Inspecific hypersignal areas white matter; EEG hypsarrhythmia, disorganized baseline activity, frequent multifocal epileptiform paroxysms with variable morphology; coordination poor; axial hypotonia, apendicular hypertonia; no hyperreflexia; no ataxia; global developmental delay; epileptic crisis initially diagnosed at 3/4m of age, refractory seizures; suspicion of dystonia; significant feeding difficulty first few months of life, 5m-fundoplication surgery and gastrostomy with adequate weight gain since; normal cardiologic evaluation; significant strabismus, normal gastrourogenital tract, normal ocular fundoscopy, normal hearing screening tests" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000445271" "00443775" "1" "00006" "00006" "2023-12-01 17:14:11" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445596" "00444098" "1" "04613" "04613" "2023-12-17 17:21:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000445644" "00444146" "1" "02396" "02396" "2023-12-19 01:55:04" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000461039" "00459416" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461040" "00459417" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461041" "00459418" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461042" "00459419" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461043" "00459420" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461044" "00459421" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000445644" "WDR47" ## 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 = 13 "{{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}}" "0000716660" "0" "50" "1" "109566131" "109566163" "dup" "0" "02329" "WDR47_000001" "g.109566131_109566163dup" "" "" "" "WDR47(NM_001142550.1):c.4_5ins33 (p.T2delinsIFLFHI*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109023509_109023541dup" "" "VUS" "" "0000952177" "0" "70" "1" "109524385" "109524385" "subst" "0" "00006" "WDR47_000002" "g.109524385G>C" "" "{PMID:Imafidon 2021:34136434}" "" "2392C>G (Arg798Gly)" "" "De novo" "" "" "0" "" "" "g.108981742G>C" "" "VUS" "" "0000953686" "3" "90" "1" "109526050" "109526050" "subst" "4.24683E-6" "04613" "WDR47_000003" "g.109526050G>A" "" "{PMID:Bayam 2024:39609633}" "" "" "" "Germline" "yes" "rs764063998" "0" "" "" "g.108983428G>A" "" "pathogenic (recessive)" "ACMG" "0000953780" "21" "70" "1" "109529295" "109529295" "subst" "0.000160278" "02396" "WDR47_000004" "g.109529295T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.108986673T>C" "" "VUS" "ACMG" "0000953781" "11" "70" "1" "109544883" "109544883" "subst" "0" "02396" "WDR47_000005" "g.109544883C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.109002261C>G" "" "VUS" "ACMG" "0000990087" "0" "30" "1" "109538397" "109538397" "subst" "0" "01804" "WDR47_000006" "g.109538397G>A" "" "" "" "WDR47(NM_001142551.1):c.1496C>T (p.(Ser499Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001020096" "3" "70" "1" "109554090" "109554090" "subst" "4.06078E-6" "00006" "WDR47_000008" "g.109554090C>T" "" "{PMID:Bayam 2024:39609633}" "" "" "" "Germline" "" "" "0" "" "" "g.109011468C>T" "" "likely pathogenic (recessive)" "" "0001020097" "3" "70" "1" "109554090" "109554090" "subst" "4.06078E-6" "00006" "WDR47_000008" "g.109554090C>T" "" "{PMID:Bayam 2024:39609633}" "" "" "" "Germline" "" "" "0" "" "" "g.109011468C>T" "" "likely pathogenic (recessive)" "" "0001020098" "11" "70" "1" "109544883" "109544883" "subst" "0" "00006" "WDR47_000005" "g.109544883C>G" "" "{PMID:Bayam 2024:39609633}" "" "" "" "Germline" "" "" "0" "" "" "g.109002261C>G" "" "likely pathogenic (recessive)" "" "0001020099" "3" "70" "1" "109526050" "109526050" "subst" "4.24683E-6" "00006" "WDR47_000003" "g.109526050G>A" "" "{PMID:Bayam 2024:39609633}" "" "" "" "Germline" "" "" "0" "" "" "g.108983428G>A" "" "likely pathogenic (recessive)" "" "0001020100" "3" "70" "1" "109526050" "109526050" "subst" "4.24683E-6" "00006" "WDR47_000003" "g.109526050G>A" "" "{PMID:Bayam 2024:39609633}" "" "" "" "Germline" "" "" "0" "" "" "g.108983428G>A" "" "likely pathogenic (recessive)" "" "0001020101" "3" "70" "1" "109526023" "109526023" "subst" "0" "00006" "WDR47_000007" "g.109526023T>G" "" "{PMID:Bayam 2024:39609633}" "" "" "" "Germline" "" "" "0" "" "" "g.108983401T>G" "" "likely pathogenic (recessive)" "" "0001020102" "21" "90" "1" "109529295" "109529295" "subst" "0.000160278" "00006" "WDR47_000004" "g.109529295T>C" "" "{PMID:Bayam 2024:39609633}" "" "" "" "Germline" "" "" "0" "" "" "g.108986673T>C" "" "pathogenic (recessive)" "" ## 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 WDR47 ## Count = 13 "{{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}}" "0000716660" "00025892" "50" "-9" "-20" "4" "0" "c.-9-20_4dup" "r.spl?" "p.?" "" "0000952177" "00025892" "70" "2368" "0" "2368" "0" "c.2368C>G" "r.(?)" "p.(Arg790Gly)" "" "0000953686" "00025892" "90" "1949" "0" "1949" "0" "c.1949C>T" "r.(?)" "p.(Pro650Leu)" "11" "0000953780" "00025892" "70" "1775" "0" "1775" "0" "c.1775A>G" "r.(?)" "p.(Lys592Arg)" "" "0000953781" "00025892" "70" "1396" "0" "1396" "0" "c.1396G>C" "r.(?)" "p.(Asp466His)" "" "0000990087" "00025892" "30" "1496" "0" "1496" "0" "c.1496C>T" "r.(?)" "p.(Ala499Val)" "" "0001020096" "00025892" "70" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193His)" "5" "0001020097" "00025892" "70" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193His)" "5" "0001020098" "00025892" "70" "1396" "0" "1396" "0" "c.1396G>C" "r.(?)" "p.(Asp466His)" "7" "0001020099" "00025892" "70" "1949" "0" "1949" "0" "c.1949C>T" "r.(?)" "p.(Pro650Leu)" "11" "0001020100" "00025892" "70" "1949" "0" "1949" "0" "c.1949C>T" "r.(?)" "p.(Pro650Leu)" "11" "0001020101" "00025892" "70" "1976" "0" "1976" "0" "c.1976A>C" "r.(?)" "p.(His659Pro)" "11" "0001020102" "00025892" "90" "1775" "0" "1775" "0" "c.1775A>G" "r.(?)" "p.(Lys592Arg)" "10" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000445271" "0000952177" "0000445596" "0000953686" "0000445644" "0000953780" "0000445644" "0000953781" "0000461039" "0001020096" "0000461040" "0001020097" "0000461041" "0001020098" "0000461041" "0001020102" "0000461042" "0001020099" "0000461043" "0001020100" "0000461044" "0001020101"