### 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/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"