### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPFIBP1) # 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}}" "PPFIBP1" "PTPRF interacting protein, binding protein 1 (liprin beta 1)" "12" "p12.1" "unknown" "NC_000012.11" "UD_132319599590" "" "https://www.LOVD.nl/PPFIBP1" "" "1" "9249" "8496" "603141" "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/PPFIBP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-08-05 22:22:46" "00000" "2025-11-01 13:22:20" ## 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}}" "00001271" "PPFIBP1" "transcript variant 1" "002" "NM_003622.3" "" "NP_003613.3" "" "" "" "-377" "5700" "3018" "27677045" "27848497" "00000" "2012-09-13 13:22:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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 = 1 "{{geneid}}" "{{diseaseid}}" "PPFIBP1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00271474" "" "" "" "1" "" "02061" "" "" "" "" "Saudi Arabia" "" "0" "" "" "Arab" "" "00415060" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Pat1" "00415061" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (4th degree consanguineous)" "F" "yes" "Syria" "6y" "0" "" "" "" "Pat2" "00415062" "" "" "" "3" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Pat3-1" "00415063" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "brother" "M" "yes" "" "" "0" "" "" "" "Pat3-2" "00415064" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "brother" "M" "yes" "" "" "0" "" "" "" "Pat3-3" "00415065" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Pat4" "00415066" "" "" "" "2" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "5-generation family, 2 affected sisters, unaffected heterozygous carrier parents (2nd degree consanguineous)" "F" "yes" "Egypt" "8y" "0" "" "" "" "Pat5-1" "00415067" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "sister" "F" "yes" "Egypt" "4y" "0" "" "" "" "Pat5-2" "00415068" "" "" "" "2" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "Pat6-1" "00415069" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "brother" "M" "yes" "Egypt" "" "0" "" "" "" "Pat6-2" "00415070" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Sweden" "" "0" "" "" "" "Pat7" "00415071" "" "" "" "2" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "3-generation family, affected female and aunt (2F), unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Pat8" "00415072" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "3y9m" "0" "" "" "" "Pat9" "00415073" "" "" "" "2" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "3-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "Pat10" "00415074" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Egypt" "" "0" "" "" "" "Pat11" "00415075" "" "" "" "2" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "5-generation family, affected female and aunt (2F), unaffected heterozygous carrier parents" "F" "yes" "Syria" "" "0" "" "" "" "Pat12" "00415076" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "fetus" "" "yes" "" "" "0" "" "" "" "Fam13" "00415077" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "M" "" "" "" "0" "" "" "" "Pat14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00271474" "00291" "00415060" "05611" "00415061" "05611" "00415062" "05611" "00415063" "05611" "00415064" "05611" "00415065" "05611" "00415066" "05611" "00415067" "05611" "00415068" "05611" "00415069" "05611" "00415070" "05611" "00415071" "05611" "00415072" "05611" "00415073" "05611" "00415074" "05611" "00415075" "05611" "00415076" "05611" "00415077" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00291, 01157, 05611 ## Count = 20 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000306861" "05611" "00415060" "00006" "Familial, autosomal dominant" "19y" "see paper; ..., moderate intellectual disability, delayed speech, normal motor development; 4y-focal impaired awareness seizures; 18y-MRI normal; microcephaly; small for gestational age; no congenital heart defect; no ophthalmologic features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306862" "05611" "00415061" "00006" "Familial, autosomal dominant" "06y" "see paper; ..., 3y-died, profound developmental delay, no speech, unable to sit; 2y-focal, generalized tonic clonic seizures; 5y-MRI paucity of the white matter, ventriculomegaly, hypoplastic corpus callosum, Blakes\'s pouch cyst; intracranial calcifications; spastic tetraplegia, nystagmus; microcephaly; short stature, low weight; no congenital heart defect; bilateral papillary pallor, no eye contact" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306863" "05611" "00415062" "00006" "Familial, autosomal dominant" "11y" "see paper; ..., profound developmental delay, no speech, unable to sit; 7m-epileptic spasms, focal, tonic clonic, tonic seizures; MRI periventricular leukomalacia, metopic synostosis; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; poor fixation" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306864" "05611" "00415063" "00006" "Familial, autosomal dominant" "07y" "see paper; ..., profound developmental delay, no speech, unable to sit; 2m-epileptic spasms, Lennox-Gastaut syndrome; 2y-MRI moderate hyperintensity of periventricular white matter, mild ventriculomegaly; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; no ophthalmologic features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306865" "05611" "00415064" "00006" "Familial, autosomal dominant" "06y" "see paper; ..., profound developmental delay, no speech, unable to sit; 1d-epileptic spasms, focal, multifocal seizures; 3d-MRI ventriculomegaly, abnormal signal intensity of the white matter, bilateral temporal and left occipital pachygyria; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; no ophthalmologic features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306866" "05611" "00415065" "00006" "Familial, autosomal dominant" "00y11m" "see paper; ..., profound developmental delay, no speech, unable to sit; 5m-epileptic spasms, focal, generalized tonic, status epilepticus seizures; MRI-5m ventriculomegaly, paucity of the white matter, bilateral parietal and occipital pachygyria; intracranial calcifications; spastic diplegia, hyperreflexia; microcephaly; small for gestational age, short stature; congenital heart defect; haemorrhagic retinitis, chronic retinal detachment, right eye exotropia w/ slow pupillary reaction" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306867" "05611" "00415066" "00006" "Familial, autosomal dominant" "08y" "see paper; ..., 8y-died, profound developmental delay, no speech, unable to sit; 2m-focal, myoclonic seizures; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, short stature, low weight; no congenital heart defect" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306868" "05611" "00415067" "00006" "Familial, autosomal dominant" "02y" "see paper; ..., 4y-died, profound developmental delay, no speech, unable to sit; 1m-focal, myoclonic, tonic seizures; CT ventriculomegaly; intracranial calcifications; hypertonia of the limbs, dystonia; microcephaly; short stature; no congenital heart defect; no ophthalmologic features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306869" "05611" "00415068" "00006" "Familial, autosomal dominant" "06y" "see paper; ..., profound developmental delay, no speech, 6y-sat independently; 4m-generalized tonic clonic, myoclonic seizures; MRI ventriculomegaly, cortical atrophy, demyelination of periventricular white matter, thin corpus callosum, cerebellar vermian hypoplasia; hypertonia of the limbs; microcephaly; short stature, low weight; no congenital heart defect; optic atrophy, followed light" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306870" "05611" "00415069" "00006" "Familial, autosomal dominant" "02y" "see paper; ..., profound developmental delay, no speech, no head support; 2m-generalized tonic clonic, myoclonic seizures, excessive smacking movements; MRI asymmetrical ventriculomegaly, cortical atrophy, demyelination of periventricular white matter, thin corpus callosum, cerebellar vermian hypoplasia; intracranial calcifications; spasticity, rigidity, dystonic movement; microcephaly; short stature, low weight; congenital heart defect; optic atrophy, couldn\'t follow light" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306871" "05611" "00415070" "00006" "Familial, autosomal dominant" "04y" "see paper; ..., severe developmental delay, no speech, motor delay but can stand and walk; 4m-epileptic spasms, focal with apnoea, myoclonic seizures; 4m-MRI normal; 1y6m-MRI thin corpus callosum, periventricular dysmyelination, possibly reduction of the white matter; hypotonia; microcephaly; normal growth; no congenital heart defect; no ophthalmologic features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306872" "05611" "00415071" "00006" "Familial, autosomal dominant" "" "see paper; ..., profound developmental delay, no speech, unable to sit; 6m-generalized tonic clonic seizures; MRI bilateral parietal pachygyria, periventricular heterotopia, ventriculomegaly, hyperintensity and paucity of the white matter; hypotonia, nystagmus; no microcephaly but low OFC; small for gestational age; congenital heart defect; no ophthalmologic features but poor fixation" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306873" "05611" "00415072" "00006" "Familial, autosomal dominant" "02y06m" "see paper; ..., 3y9m-died, severe developmental delay, no speech, can sit but not walk; 2m-epileptic spasms and gaze; MI abnormal; spastic tetraplegia, no sphincter control; microcephaly; small for gestational age; no congenital heart defect; blindness" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306874" "05611" "00415073" "00006" "Familial, autosomal dominant" "01y02m" "see paper; ..., severe developmental delay, no speech yet, motor delay; 7d-focal myoclonic seizures, epileptic spasms; MRI abnormal myelination of the periventricular white matter and at corona radiata and centrum semiovale, hypoplastic corpus callosum, mild ventriculomegaly; hypotonia, nystagmus; microcephaly; no congenital heart defect; right ptosis, left iris coloboma, diffuse chorioretinal degeneration" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306875" "05611" "00415074" "00006" "Familial, autosomal dominant" "00y05m" "see paper; ..., severe developmental delay, no speech yet, no head support; 14d-focal, myoclonic seizures; MRI cortical atrophy, deep Sylvian fissures, mild ventriculomegaly, prominent basal ganglia, hypoplastic corpus callosum, retrocerebellar and bitemporal arachnoid cysts; intracranial calcifications; hypotonia, dystonia, brisk reflexes, nystagmus; microcephaly; small for gestational age; congenital heart defect; optic atrophy" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306876" "05611" "00415075" "00006" "Familial, autosomal dominant" "05y11m" "see paper; ..., profound developmental delay, no speech, unable to sit; 6m-focal, generalized seizures; 5y-MRI ventriculomegaly, leukoencephalopathy, paucity of the white matter, suspected periventricular microcalcifications, frontal polymicrogyria, temporoparietal thickening of the cortex; hypotonia, dyskinesia, stereotypic movements; microcephaly; short stature, low weight; abnormalities of VEPs" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306877" "05611" "00415076" "00006" "Familial, autosomal dominant" "<00y00m00d" "see paper; ..., age 25GW, developmental age estimated around 22GW; X-ray intracranial calcifications babygram; microcephaly; intra-uterine growth retardation" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000306878" "05611" "00415077" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000272628" "00271474" "1" "02061" "02061" "2019-12-19 17:31:04" "" "" "SEQ-NG-IT" "DNA" "" "WES" "0000416341" "00415060" "1" "00006" "00006" "2022-08-06 22:07:04" "00006" "2022-08-08 11:07:44" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES trio" "0000416342" "00415061" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000416343" "00415062" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416344" "00415063" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416345" "00415064" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416346" "00415065" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416347" "00415066" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416348" "00415067" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416349" "00415068" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416350" "00415069" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416351" "00415070" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS trio" "0000416352" "00415071" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416353" "00415072" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416354" "00415073" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416355" "00415074" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416356" "00415075" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416357" "00415076" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000416358" "00415077" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000416341" "PPFIBP1" ## 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 = 46 "{{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}}" "0000005118" "0" "50" "12" "27761702" "27761702" "subst" "0" "00037" "PPFIBP1_000002" "g.27761702C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.27608769C>T" "" "VUS" "" "0000005119" "0" "50" "12" "27761889" "27761889" "subst" "0" "00037" "PPFIBP1_000003" "g.27761889A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.27608956A>T" "" "VUS" "" "0000010569" "3" "50" "12" "27760872" "27760872" "del" "0" "00037" "PPFIBP1_000004" "g.27760872del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.27607939del" "" "VUS" "" "0000247148" "0" "10" "12" "27800794" "27800794" "subst" "0.000325574" "02330" "PPFIBP1_000009" "g.27800794A>T" "" "" "" "PPFIBP1(NM_177444.3):c.471+19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27647861A>T" "" "benign" "" "0000247149" "0" "10" "12" "27802932" "27802932" "subst" "0.063219" "02330" "PPFIBP1_000010" "g.27802932A>C" "" "" "" "PPFIBP1(NM_177444.3):c.472-11A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27649999A>C" "" "benign" "" "0000294263" "0" "10" "12" "27826780" "27826780" "subst" "0" "02330" "PPFIBP1_000011" "g.27826780T>G" "" "" "" "PPFIBP1(NM_177444.3):c.1431+20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27673847T>G" "" "benign" "" "0000294264" "0" "10" "12" "27832582" "27832582" "subst" "0.00532141" "02330" "PPFIBP1_000012" "g.27832582G>A" "" "" "" "PPFIBP1(NM_003622.4):c.1766+10G>A, PPFIBP1(NM_177444.3):c.1784+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27679649G>A" "" "benign" "" "0000294265" "0" "10" "12" "27788021" "27788021" "subst" "0.326101" "02330" "PPFIBP1_000005" "g.27788021G>A" "" "" "" "PPFIBP1(NM_177444.3):c.243G>A (p.T81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27635088G>A" "" "benign" "" "0000294266" "0" "10" "12" "27800746" "27800746" "subst" "0.997144" "02330" "PPFIBP1_000006" "g.27800746G>T" "" "" "" "PPFIBP1(NM_177444.3):c.442G>T (p.V148L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27647813G>T" "" "benign" "" "0000294267" "0" "10" "12" "27800787" "27800787" "subst" "0" "02330" "PPFIBP1_000007" "g.27800787G>C" "" "" "" "PPFIBP1(NM_177444.3):c.471+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27647854G>C" "" "benign" "" "0000294268" "0" "10" "12" "27800792" "27800792" "subst" "0.000325315" "02330" "PPFIBP1_000008" "g.27800792G>T" "" "" "" "PPFIBP1(NM_177444.3):c.471+17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27647859G>T" "" "benign" "" "0000343065" "0" "70" "12" "27830005" "27830005" "subst" "3.25113E-5" "02327" "PPFIBP1_000014" "g.27830005C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27677072C>T" "" "likely pathogenic" "" "0000344766" "0" "90" "12" "27817346" "27817346" "subst" "0" "02327" "PPFIBP1_000013" "g.27817346C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27664413C>T" "" "pathogenic" "" "0000547722" "0" "10" "12" "27799008" "27799008" "subst" "0.0204764" "02330" "PPFIBP1_000015" "g.27799008T>G" "" "" "" "PPFIBP1(NM_177444.3):c.284T>G (p.L95R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27646075T>G" "" "benign" "" "0000547723" "0" "50" "12" "27835347" "27835347" "subst" "1.62632E-5" "02327" "PPFIBP1_000016" "g.27835347C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27682414C>T" "" "VUS" "" "0000626565" "11" "50" "12" "27829537" "27829537" "subst" "4.76186E-6" "02061" "PPFIBP1_000017" "g.27829537G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27676604G>A" "" "VUS" "" "0000874386" "3" "90" "12" "27820254" "27820254" "subst" "0" "00006" "PPFIBP1_000021" "g.27820254G>A" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "g.27667321G>A" "" "pathogenic (recessive)" "" "0000874387" "3" "90" "12" "27842105" "27842105" "del" "0" "00006" "PPFIBP1_000028" "g.27842105del" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "g.27689172del" "" "pathogenic (recessive)" "" "0000874388" "3" "90" "12" "27826748" "27826749" "del" "0" "00006" "PPFIBP1_000022" "g.27826748_27826749del" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27673815_27673816del" "" "pathogenic (recessive)" "" "0000874389" "3" "90" "12" "27826748" "27826749" "del" "0" "00006" "PPFIBP1_000022" "g.27826748_27826749del" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27673815_27673816del" "" "pathogenic (recessive)" "" "0000874390" "3" "90" "12" "27826748" "27826749" "del" "0" "00006" "PPFIBP1_000022" "g.27826748_27826749del" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27673815_27673816del" "" "pathogenic (recessive)" "" "0000874391" "3" "90" "12" "27826748" "27826749" "del" "0" "00006" "PPFIBP1_000022" "g.27826748_27826749del" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "g.27673815_27673816del" "" "pathogenic (recessive)" "" "0000874392" "3" "90" "12" "27841273" "27841273" "subst" "2.03148E-5" "00006" "PPFIBP1_000026" "g.27841273C>T" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27688340C>T" "" "pathogenic (recessive)" "" "0000874393" "3" "90" "12" "27841273" "27841273" "subst" "2.03148E-5" "00006" "PPFIBP1_000026" "g.27841273C>T" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27688340C>T" "" "pathogenic (recessive)" "" "0000874394" "3" "90" "12" "27829418" "27829418" "subst" "0" "00006" "PPFIBP1_000024" "g.27829418C>T" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27676485C>T" "" "pathogenic (recessive)" "" "0000874395" "3" "90" "12" "27829418" "27829418" "subst" "0" "00006" "PPFIBP1_000024" "g.27829418C>T" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.27676485C>T" "" "pathogenic (recessive)" "" "0000874396" "3" "90" "12" "27800707" "27800707" "subst" "2.88667E-5" "00006" "PPFIBP1_000020" "g.27800707C>T" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "g.27647774C>T" "" "pathogenic (recessive)" "" "0000874397" "3" "90" "12" "27829367" "27829377" "del" "0" "00006" "PPFIBP1_000023" "g.27829367_27829377del" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "g.27676434_27676444del" "" "pathogenic (recessive)" "" "0000874398" "3" "90" "12" "27825397" "27825397" "subst" "0" "00006" "PPFIBP1_000018" "g.27825397C>T" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "g.27672464C>T" "" "pathogenic (recessive)" "" "0000874399" "3" "90" "12" "27842080" "27842080" "subst" "0" "00006" "PPFIBP1_000027" "g.27842080C>T" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "g.27689147C>T" "" "pathogenic (recessive)" "" "0000874400" "3" "90" "12" "27829418" "27829418" "subst" "0" "00006" "PPFIBP1_000024" "g.27829418C>T" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "g.27676485C>T" "" "pathogenic (recessive)" "" "0000874401" "3" "90" "12" "27842105" "27842105" "del" "0" "00006" "PPFIBP1_000028" "g.27842105del" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "g.27689172del" "" "pathogenic (recessive)" "" "0000874402" "3" "70" "12" "27835566" "27835566" "subst" "0" "00006" "PPFIBP1_000019" "g.27835566G>T" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "g.27682633G>T" "" "likely pathogenic (recessive)" "" "0000874403" "3" "90" "12" "27835433" "27835433" "subst" "0" "00006" "PPFIBP1_000025" "g.27835433T>C" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "g.27682500T>C" "" "pathogenic (recessive)" "" "0000930067" "0" "50" "12" "27802975" "27802975" "subst" "0.000284815" "02325" "PPFIBP1_000029" "g.27802975G>C" "" "" "" "PPFIBP1(NM_001198915.2):c.45G>C (p.Q15H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930068" "0" "90" "12" "27807653" "27807654" "del" "0" "02325" "PPFIBP1_000030" "g.27807653_27807654del" "" "" "" "PPFIBP1(NM_001198915.2):c.145-2_145-1delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930069" "0" "50" "12" "27835402" "27835402" "subst" "1.21936E-5" "02325" "PPFIBP1_000031" "g.27835402A>T" "" "" "" "PPFIBP1(NM_001198915.2):c.1688A>T (p.H563L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930070" "0" "50" "12" "27840412" "27840412" "subst" "0" "02325" "PPFIBP1_000032" "g.27840412A>G" "" "" "" "PPFIBP1(NM_001198915.2):c.1901A>G (p.N634S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980209" "0" "50" "12" "27834595" "27834595" "subst" "0.000337338" "01804" "PPFIBP1_000033" "g.27834595C>T" "" "" "" "PPFIBP1(NM_003622.4):c.2012C>T (p.(Thr671Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039171" "0" "30" "12" "27786291" "27786291" "dup" "0" "01804" "PPFIBP1_000034" "g.27786291dup" "" "" "" "PPFIBP1(NM_003622.4):c.-35-4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039172" "0" "50" "12" "27799028" "27799028" "subst" "3.25478E-5" "01804" "PPFIBP1_000035" "g.27799028T>C" "" "" "" "PPFIBP1(NM_003622.4):c.304T>C (p.(Tyr102His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039173" "0" "30" "12" "27832582" "27832582" "subst" "0.00532141" "01804" "PPFIBP1_000012" "g.27832582G>A" "" "" "" "PPFIBP1(NM_003622.4):c.1766+10G>A, PPFIBP1(NM_177444.3):c.1784+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039174" "0" "30" "12" "27835312" "27835312" "subst" "0.00144637" "01804" "PPFIBP1_000036" "g.27835312T>C" "" "" "" "PPFIBP1(NM_003622.4):c.2047-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039176" "0" "30" "12" "27840420" "27840420" "subst" "0.00124374" "01804" "PPFIBP1_000037" "g.27840420C>T" "" "" "" "PPFIBP1(NM_001198915.2):c.1909C>T (p.R637W), PPFIBP1(NM_003622.4):c.2350C>T (p.(Arg784Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039177" "0" "30" "12" "27840420" "27840420" "subst" "0.00124374" "02326" "PPFIBP1_000037" "g.27840420C>T" "" "" "" "PPFIBP1(NM_001198915.2):c.1909C>T (p.R637W), PPFIBP1(NM_003622.4):c.2350C>T (p.(Arg784Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054267" "0" "50" "12" "27802945" "27802945" "subst" "1.23678E-5" "01804" "PPFIBP1_000038" "g.27802945G>C" "" "" "" "PPFIBP1(NM_003622.4):c.474G>C (p.(Glu158Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PPFIBP1 ## Count = 46 "{{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}}" "0000005118" "00001271" "50" "-35" "-24593" "-35" "-24593" "c.-35-24593C>T" "r.(=)" "p.(=)" "" "0000005119" "00001271" "50" "-35" "-24406" "-35" "-24406" "c.-35-24406A>T" "r.(=)" "p.(=)" "" "0000010569" "00001271" "50" "-35" "-25423" "-35" "-25423" "c.-35-25423del" "r.(=)" "p.(=)" "" "0000247148" "00001271" "10" "471" "19" "471" "19" "c.471+19A>T" "r.(=)" "p.(=)" "" "0000247149" "00001271" "10" "472" "-11" "472" "-11" "c.472-11A>C" "r.(=)" "p.(=)" "" "0000294263" "00001271" "10" "1380" "20" "1380" "20" "c.1380+20T>G" "r.(=)" "p.(=)" "" "0000294264" "00001271" "10" "1766" "10" "1766" "10" "c.1766+10G>A" "r.(=)" "p.(=)" "" "0000294265" "00001271" "10" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Thr81=)" "" "0000294266" "00001271" "10" "442" "0" "442" "0" "c.442=" "r.(=)" "p.(Leu148=)" "" "0000294267" "00001271" "10" "471" "12" "471" "12" "c.471+12G>C" "r.(=)" "p.(=)" "" "0000294268" "00001271" "10" "471" "17" "471" "17" "c.471+17G>T" "r.(=)" "p.(=)" "" "0000343065" "00001271" "70" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Ter)" "" "0000344766" "00001271" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Gln320Ter)" "" "0000547722" "00001271" "10" "284" "0" "284" "0" "c.284T>G" "r.(?)" "p.(Leu95Arg)" "" "0000547723" "00001271" "50" "2074" "0" "2074" "0" "c.2074C>T" "r.(?)" "p.(Arg692Ter)" "" "0000626565" "00001271" "50" "1582" "5" "1582" "5" "c.1582+5G>A" "r.spl?" "p.?" "" "0000874386" "00001271" "90" "1146" "1" "1146" "1" "c.1146+1G>A" "r.0?" "p.0?" "" "0000874387" "00001271" "90" "2654" "0" "2654" "0" "c.2654del" "r.(?)" "p.(Tyr885Leufs*4)" "" "0000874388" "00001271" "90" "1368" "0" "1369" "0" "c.1368_1369del" "r.(?)" "p.(Glu456Aspfs*3)" "" "0000874389" "00001271" "90" "1368" "0" "1369" "0" "c.1368_1369del" "r.(?)" "p.(Glu456Aspfs*3)" "" "0000874390" "00001271" "90" "1368" "0" "1369" "0" "c.1368_1369del" "r.(?)" "p.(Glu456Aspfs*3)" "" "0000874391" "00001271" "90" "1368" "0" "1369" "0" "c.1368_1369del" "r.(?)" "p.(Glu456Aspfs*3)" "" "0000874392" "00001271" "90" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Arg805*)" "" "0000874393" "00001271" "90" "2413" "0" "2413" "0" "c.2413C>T" "r.(?)" "p.(Arg805*)" "" "0000874394" "00001271" "90" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Gln490*)" "" "0000874395" "00001271" "90" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Gln490*)" "" "0000874396" "00001271" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135*)" "" "0000874397" "00001271" "90" "1417" "0" "1427" "0" "c.1417_1427del" "r.(?)" "p.(Ala473Lysfs*20)" "" "0000874398" "00001271" "90" "1300" "0" "1300" "0" "c.1300C>T" "r.spl?" "p.(Gln434*)" "" "0000874399" "00001271" "90" "2629" "0" "2629" "0" "c.2629C>T" "r.(?)" "p.(Arg877*)" "" "0000874400" "00001271" "90" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Gln490*)" "" "0000874401" "00001271" "90" "2654" "0" "2654" "0" "c.2654del" "r.(?)" "p.(Tyr885Leufs*4)" "" "0000874402" "00001271" "70" "2177" "0" "2177" "0" "c.2177G>T" "r.(?)" "p.(Gly726Val)" "" "0000874403" "00001271" "90" "2158" "2" "2158" "2" "c.2158+2T>C" "r.spl" "p.?" "" "0000930067" "00001271" "50" "504" "0" "504" "0" "c.504G>C" "r.(?)" "p.(Gln168His)" "" "0000930068" "00001271" "90" "604" "-2" "604" "-1" "c.604-2_604-1del" "r.spl?" "p.?" "" "0000930069" "00001271" "50" "2129" "0" "2129" "0" "c.2129A>T" "r.(?)" "p.(His710Leu)" "" "0000930070" "00001271" "50" "2342" "0" "2342" "0" "c.2342A>G" "r.(?)" "p.(Asn781Ser)" "" "0000980209" "00001271" "50" "2012" "0" "2012" "0" "c.2012C>T" "r.(?)" "p.(Thr671Met)" "" "0001039171" "00001271" "30" "-35" "-4" "-35" "-4" "c.-35-4dup" "r.spl?" "p.?" "" "0001039172" "00001271" "50" "304" "0" "304" "0" "c.304T>C" "r.(?)" "p.(Tyr102His)" "" "0001039173" "00001271" "30" "1766" "10" "1766" "10" "c.1766+10G>A" "r.(=)" "p.(=)" "" "0001039174" "00001271" "30" "2047" "-8" "2047" "-8" "c.2047-8T>C" "r.(=)" "p.(=)" "" "0001039176" "00001271" "30" "2350" "0" "2350" "0" "c.2350C>T" "r.(?)" "p.(Arg784Trp)" "" "0001039177" "00001271" "30" "2350" "0" "2350" "0" "c.2350C>T" "r.(?)" "p.(Arg784Trp)" "" "0001054267" "00001271" "50" "474" "0" "474" "0" "c.474G>C" "r.(?)" "p.(Glu158Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005118" "0000000209" "0000005119" "0000000210" "0000010569" "0000272628" "0000626565" "0000416341" "0000874386" "0000416342" "0000874387" "0000416343" "0000874388" "0000416344" "0000874389" "0000416345" "0000874390" "0000416346" "0000874391" "0000416347" "0000874392" "0000416348" "0000874393" "0000416349" "0000874394" "0000416350" "0000874395" "0000416351" "0000874396" "0000416352" "0000874397" "0000416353" "0000874398" "0000416354" "0000874399" "0000416355" "0000874400" "0000416356" "0000874401" "0000416357" "0000874402" "0000416358" "0000874403"