### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PUF60) # 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}}" "PUF60" "poly-U binding splicing factor 60KDa" "8" "q24.3" "unknown" "NC_000008.10" "UD_136090410166" "" "http://www.LOVD.nl/PUF60" "" "1" "17042" "22827" "604819" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PUF60_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-23 08:43:14" "00006" "2025-08-26 16:13:53" ## 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}}" "00024149" "PUF60" "transcript variant 1" "006" "NM_078480.2" "" "NP_510965.1" "" "" "" "-83" "1856" "1680" "144911556" "144898514" "00006" "2016-06-23 08:41:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04016" "VRJS" "Verheij syndrome (chromosome deletion syndrome 8q24.3)" "AD" "615583" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-02-23 15:08:27" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PUF60" "04016" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00073735" "" "" "" "1" "" "01676" "" "" "F" "no" "France" "" "0" "3y" "" "" "" "00073736" "" "" "" "1" "" "01676" "" "" "M" "no" "" "" "0" "14y" "" "" "" "00073737" "" "" "" "1" "" "01676" "" "" "M" "no" "" "" "0" "7y" "" "" "" "00073738" "" "" "" "1" "" "01676" "" "" "M" "no" "Czech Republic" "" "0" "17y" "" "" "" "00073739" "" "" "" "1" "" "01676" "" "" "F" "no" "Belgium" "" "0" "" "" "" "" "00078890" "" "" "" "1" "" "01676" "" "" "F" "" "" "" "0" "" "" "" "" "00266261" "" "" "" "1" "" "00006" "{PMID:Charzewska 2018:30006928}" "3-generation family, 1 affected (M), unaffected heterozygous carrier mother" "M" "no" "" "" "0" "" "" "" "Fam6" "00296381" "" "" "" "1" "" "01164" "" "" "?" "" "" "" "0" "" "" "" "" "00320170" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00326212" "" "" "" "1" "" "01164" "" "prenatal sample - ultrasound abnormalities" "M" "?" "Germany" "" "0" "" "" "" "173715" "00387675" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "74" "00398755" "" "" "" "1" "" "04116" "" "" "M" "" "" "" "" "" "" "" "" "00401513" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "127P" "00440406" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3677.1" "00440410" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED1525.1" "00446741" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "281422" "00448199" "" "" "" "1" "" "00006" "{PMID:Grimes 2023:37303278}, {PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat30" "00458171" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00460998" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00073735" "04016" "00073736" "04016" "00073737" "04016" "00073738" "04016" "00073739" "04016" "00078890" "04016" "00266261" "00139" "00296381" "00198" "00320170" "00198" "00326212" "04016" "00387675" "04214" "00398755" "04016" "00401513" "00139" "00401513" "04016" "00440406" "00198" "00440410" "00198" "00446741" "04016" "00448199" "00198" "00458171" "00198" "00460998" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04016, 04214 ## Count = 17 "{{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}}" "0000053559" "04016" "00073735" "01676" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053560" "04016" "00073736" "01676" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053561" "04016" "00073737" "01676" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053562" "04016" "00073739" "01676" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053563" "04016" "00073738" "01676" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058648" "04016" "00078890" "01676" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000204036" "00139" "00266261" "00006" "Unknown" "" "intellectual disability, developmental delay, poor/absent speech, speech dealy/speech disturbances, hyper nasal speech, short stature, hypotonia, seizures and EEG abnormalities, corpus callosum agenesis, macrocephaly, brachycephaly, long narrow face, coarse face, prominent forehead, anteverted nares, bulbous nasal tip, small ears, open mouth, dental abnormalities, prognathism, hypertelorism, ptosis, epicentral folds, downslanted palberal fissures, sparse eyebrows, hearing loss, camptodactyly, single palmar crease, cardiac anomaly, Hirschsprung disease, constipation, anal anomaly, cryptorchidism, genital hypoplasia, hyperactive/friendly/affable" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000223795" "00198" "00296381" "01164" "Unknown" "" "Craniosynostosis (HP:0001363); Abnormality of prenatal development or birth (HP:0001197); Intrauterine growth retardation (HP:0001511); Tetralogy of Fallot (HP:0001636); Agenesis of corpus callosum (HP:0001274)" "" "" "" "" "" "" "" "" "" "" "" "0000242216" "00198" "00320170" "01807" "Unknown" "" "Thin upper lip vermilion (HP:0000219); Long philtrum (HP:0000343); Hyperopic astigmatism (HP:0000484); Delayed speech and language development (HP:0000750); Pallor (HP:0000980); Failure to thrive (HP:0001508); Short stature (HP:0004322); Abnormal fucosylation of protein N-linked glycosylation (HP:0012352); Abnormal fucosylation of O-linked protein glycosylation (HP:0012359)" "" "" "" "" "" "" "" "" "" "" "" "0000244673" "04016" "00326212" "01164" "Unknown" "00y" "(+) Abnormality of prenatal development or birth,(+) Increased nuchal translucency,(+) Fetal ultrasound soft marker,(+) Abnormal heart morphology" "" "" "" "" "" "" "" "" "" "" "" "0000281238" "04214" "00387675" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Microphthalmia anophthalmia coloboma spectrum" "Microphthalmia anophthalmia coloboma spectrum" "" "0000291839" "04016" "00398755" "04116" "Isolated (sporadic)" "" "Verheij Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000330316" "00198" "00440406" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Verheij syndrome (MIM #615583)" "" "" "0000330320" "00198" "00440410" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Verheij syndrome (MIM #615583)" "" "" "0000335945" "04016" "00446741" "01164" "Isolated (sporadic)" "06y" "Neurodevelopmental delay, Delayed speech and language development, Poor fine motor coordination, Seizure, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Renal duplication, Abnormal finger phalanx morphology" "" "" "" "" "" "" "" "" "" "" "" "0000337409" "00198" "00448199" "00006" "Isolated (sporadic)" "2y" "developmental delay; short stature; iris coloboma; chorioretinal coloboma; minor limb anomalies; pineoblastoma; dysmorphic facial features" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000346607" "00198" "00458171" "03544" "Isolated (sporadic)" "" "HP:0000104, HP:0000365, HP:0000589, HP:0000612, HP:0000750, HP:0001263, HP:0001679, HP:0002650, HP:0002721, HP:0006712, HP:0012303" "" "" "" "" "" "" "" "" "VRJS" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000073896" "00073735" "1" "01676" "01676" "2016-06-21 11:13:51" "01676" "2016-06-21 11:33:50" "SEQ-NG-I" "DNA" "Blood" "" "0000073897" "00073736" "1" "01676" "01676" "2016-06-21 12:12:51" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000073898" "00073737" "1" "01676" "01676" "2016-06-21 14:25:40" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000073899" "00073738" "1" "01676" "01676" "2016-06-21 15:04:50" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000073900" "00073739" "1" "01676" "01676" "2016-06-21 15:07:13" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000079078" "00078890" "1" "01676" "01676" "2016-07-27 17:04:45" "" "" "SEQ-NG" "DNA" "Blood" "" "0000267383" "00266261" "1" "00006" "00006" "2019-10-19 04:00:29" "00006" "2019-10-19 04:03:42" "SEQ" "DNA" "" "" "0000297492" "00296381" "1" "01164" "01164" "2020-04-06 09:47:41" "" "" "SEQ-NG-S" "DNA" "" "" "0000321355" "00320170" "1" "01807" "01807" "2020-11-23 17:43:01" "" "" "SEQ" "DNA" "" "" "0000327426" "00326212" "1" "01164" "01164" "2021-01-11 11:36:53" "" "" "SEQ-NG-H" "DNA" "" "" "0000388901" "00387675" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000399996" "00398755" "1" "04116" "04116" "2022-01-12 00:32:50" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000402757" "00401513" "1" "02494" "02494" "2022-01-31 13:25:29" "" "" "SEQ-NG" "DNA" "" "WES" "0000441891" "00440406" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441895" "00440410" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448316" "00446741" "1" "01164" "01164" "2024-01-23 15:08:57" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000449774" "00448199" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459792" "00458171" "1" "03544" "03544" "2024-12-06 10:53:07" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000462630" "00460998" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000267383" "MED12" "0000267383" "PUF60" "0000327426" "PUF60" "0000388901" "PUF60" "0000448316" "PUF60" "0000462630" "PUF60" ## 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 = 73 "{{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}}" "0000117678" "0" "70" "8" "144911449" "144911449" "subst" "0" "01676" "PUF60_000001" "g.144911449C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143829279C>G" "" "likely pathogenic" "" "0000117679" "0" "70" "8" "144899118" "144899118" "subst" "0" "01676" "PUF60_000002" "g.144899118G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143816948G>A" "" "likely pathogenic" "" "0000117680" "0" "50" "8" "144898922" "144898922" "subst" "0" "01676" "PUF60_000003" "g.144898922A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143816752A>G" "" "VUS" "" "0000117681" "0" "70" "8" "144900647" "144900650" "del" "0" "01676" "PUF60_000005" "g.144900647_144900650del" "" "" "" "407_410delTCTA" "" "De novo" "" "" "0" "" "" "g.143818477_143818480del" "" "likely pathogenic" "" "0000117682" "0" "70" "8" "144899869" "144899869" "subst" "0" "01676" "PUF60_000004" "g.144899869T>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143817699T>A" "" "likely pathogenic" "" "0000126810" "0" "90" "8" "144900548" "144900548" "subst" "0" "01676" "PUF60_000006" "g.144900548G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143818378G>A" "" "pathogenic" "" "0000337226" "0" "70" "8" "144900361" "144900361" "subst" "0" "02327" "PUF60_000010" "g.144900361A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143818191A>G" "" "likely pathogenic" "" "0000342915" "0" "70" "8" "144899118" "144899118" "subst" "0" "02327" "PUF60_000002" "g.144899118G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143816948G>A" "" "likely pathogenic" "" "0000344741" "0" "90" "8" "144899887" "144899887" "subst" "0" "02327" "PUF60_000009" "g.144899887G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143817717G>A" "" "pathogenic" "" "0000345013" "0" "70" "8" "144903784" "144903784" "subst" "0" "02327" "PUF60_000013" "g.144903784G>A" "" "" "" "PUF60(NM_078480.3):c.280C>T (p.(Gln94*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143821614G>A" "" "likely pathogenic" "" "0000345454" "0" "50" "8" "144898916" "144898918" "del" "0" "02327" "PUF60_000008" "g.144898916_144898918del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143816746_143816748del" "" "VUS" "" "0000346748" "0" "70" "8" "144898881" "144898883" "del" "0" "02327" "PUF60_000007" "g.144898881_144898883del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143816711_143816713del" "" "likely pathogenic" "" "0000350279" "0" "70" "8" "144900656" "144900656" "subst" "0" "02327" "PUF60_000012" "g.144900656C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143818486C>A" "" "likely pathogenic" "" "0000533933" "0" "90" "8" "144898977" "144898986" "del" "0" "02329" "PUF60_000014" "g.144898977_144898986del" "" "" "" "PUF60(NM_001136033.3):c.1255_1264delACAGTGATGG (p.T419Ffs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143816807_143816816del" "" "pathogenic" "" "0000533934" "0" "30" "8" "144899529" "144899529" "subst" "0" "01804" "PUF60_000015" "g.144899529C>T" "" "" "" "PUF60(NM_001136033.1):c.987G>A (p.(Met329Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143817359C>T" "" "likely benign" "" "0000533935" "0" "90" "8" "144899624" "144899624" "subst" "0" "02327" "PUF60_000016" "g.144899624C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143817454C>A" "" "pathogenic" "" "0000533936" "0" "90" "8" "144900218" "144900236" "del" "0" "02325" "PUF60_000017" "g.144900218_144900236del" "" "" "" "PUF60(NM_001136033.3):c.490_508delAACATAGGGCAGGCCCAGC (p.N164Pfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143818048_143818066del" "" "pathogenic" "" "0000533937" "0" "30" "8" "144902833" "144902833" "subst" "0.000109734" "01943" "PUF60_000018" "g.144902833G>A" "" "" "" "PUF60(NM_001136033.2):c.219+3C>T, PUF60(NM_078480.3):c.348+3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143820663G>A" "" "likely benign" "" "0000533938" "0" "30" "8" "144904087" "144904087" "subst" "0" "01804" "PUF60_000019" "g.144904087G>A" "" "" "" "PUF60(NM_001136033.1):c.-18-4C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143821917G>A" "" "likely benign" "" "0000598440" "0" "70" "8" "144900686" "144900686" "subst" "0" "00006" "PUF60_000020" "g.144900686G>A" "" "{PMID:Charzewska 2018:30006928}" "" "" "" "De novo" "" "" "0" "" "" "g.143818516G>A" "" "VUS" "" "0000611493" "0" "30" "8" "144899297" "144899299" "del" "0" "02325" "PUF60_000022" "g.144899297_144899299del" "" "" "" "PUF60(NM_001362896.2):c.1276_1278delCCT (p.P426del), PUF60(NM_078480.3):c.1165_1167del (p.(Pro389del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143817127_143817129del" "" "likely benign" "" "0000611494" "0" "90" "8" "144900542" "144900542" "subst" "0" "02325" "PUF60_000023" "g.144900542C>A" "" "" "" "PUF60(NM_001362896.2):c.621+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143818372C>A" "" "pathogenic" "" "0000622009" "0" "30" "8" "144895507" "144895507" "subst" "8.12929E-6" "01943" "PUF60_000021" "g.144895507G>A" "" "" "" "SCRIB(NM_182706.4):c.541C>T (p.L181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143813337G>A" "" "likely benign" "" "0000660094" "0" "70" "8" "144899948" "144899948" "subst" "0" "01164" "PUF60_000024" "g.144899948G>C" "" "" "" "" "ACMG grading: PVS1,PM2; prenatal sample" "Germline" "" "" "0" "" "" "g.143817778G>C" "" "likely pathogenic" "ACMG" "0000704184" "0" "70" "8" "144899287" "144899288" "ins" "0" "01807" "PUF60_000025" "g.144899287_144899288insTAT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000711132" "0" "70" "8" "144898899" "144898899" "subst" "0" "01164" "PUF60_000026" "g.144898899C>T" "" "PMID: 28327570" "" "" "ACMG: PS2_mod, PM2, PP2, PP3 class 4" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000721817" "0" "90" "8" "144899818" "144899822" "dup" "0" "02327" "PUF60_000027" "g.144899818_144899822dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721818" "0" "50" "8" "144900182" "144900182" "subst" "0" "02325" "PUF60_000028" "g.144900182G>A" "" "" "" "PUF60(NM_078480.3):c.667C>T (p.R223W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803482" "0" "30" "8" "144906543" "144906543" "subst" "0" "02325" "PUF60_000029" "g.144906543C>A" "" "" "" "PUF60(NM_078480.3):c.51G>T (p.G17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817699" "0" "70" "8" "144899920" "144899920" "dup" "0" "00000" "PUF60_000030" "g.144899920dup" "" "{PMID:Zanolli 2020:32141364}" "" "PUF60 c.850dup" "no protein change given, heterozygous" "Unknown" "?" "" "0" "" "" "g.143817750dup" "" "likely pathogenic" "" "0000832702" "0" "70" "8" "144900670" "144900671" "del" "0" "04116" "PUF60_000031" "g.144900670_144900671del" "" "" "" "382_383delAT" "" "De novo" "-" "" "0" "" "" "g.143818500_143818501del" "" "pathogenic" "ACMG" "0000836991" "0" "70" "8" "144900602" "144900610" "del" "0" "02494" "PUF60_000011" "g.144900602_144900610del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.143818432_143818440del" "" "likely pathogenic (dominant)" "" "0000851815" "0" "70" "8" "144911449" "144911449" "subst" "0" "01943" "PUF60_000001" "g.144911449C>G" "" "" "" "PUF60(NM_078480.2):c.24+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861079" "0" "30" "8" "144909660" "144909660" "subst" "0" "01943" "PUF60_000032" "g.144909660G>T" "" "" "" "PUF60(NM_001362896.1):c.30C>A (p.G10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888193" "0" "90" "8" "144900115" "144900116" "del" "0" "02329" "PUF60_000033" "g.144900115_144900116del" "" "" "" "PUF60(NM_001362896.2):c.846_847delGT (p.F283*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888194" "0" "90" "8" "144900161" "144900161" "del" "0" "02329" "PUF60_000034" "g.144900161del" "" "" "" "PUF60(NM_001362896.2):c.799delG (p.V267Wfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888195" "0" "70" "8" "144900541" "144900541" "subst" "0" "02329" "PUF60_000035" "g.144900541A>C" "" "" "" "PUF60(NM_001362896.2):c.621+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888196" "0" "30" "8" "144904041" "144904041" "subst" "0.00090021" "01804" "PUF60_000036" "g.144904041C>T" "" "" "" "PUF60(NM_001136033.1):c.25G>A (p.(Ala9Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888197" "0" "50" "8" "144911463" "144911463" "subst" "0.000684556" "02325" "NRBP2_000001" "g.144911463G>C" "" "" "" "PUF60(NM_078480.3):c.11C>G (p.A4G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912891" "0" "70" "8" "144899317" "144899317" "subst" "0" "02327" "PUF60_000037" "g.144899317T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924830" "0" "50" "8" "144894465" "144894466" "del" "0" "02327" "PUF60_000038" "g.144894465_144894466del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924831" "0" "70" "8" "144899254" "144899258" "del" "0" "02325" "PUF60_000039" "g.144899254_144899258del" "" "" "" "PUF60(NM_078480.3):c.1203_1207delCCCCA (p.I403Gfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000939833" "0" "70" "8" "144898991" "144898991" "subst" "0" "00006" "PUF60_000040" "g.144898991T>C" "" "{PMID:Nambot 2018:29095811}" "" "NM_001136033.2:c.1252-2A>G" "" "De novo" "" "" "0" "" "" "g.143816821T>C" "" "likely pathogenic (dominant)" "" "0000939837" "0" "50" "8" "144911449" "144911449" "subst" "0" "00006" "PUF60_000001" "g.144911449C>G" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.143829279C>G" "" "VUS" "" "0000957722" "0" "50" "8" "144898742" "144898747" "del" "0" "01164" "PUF60_000041" "g.144898742_144898747del" "" "" "" "" "ACMG: PM4, PS2_SUP, PM2_SUP" "De novo" "-" "" "0" "" "" "g.143816572_143816577del" "" "VUS" "ACMG" "0000960257" "0" "70" "8" "144898745" "144898745" "subst" "0" "00006" "PUF60_000042" "g.144898745A>T" "" "{PMID:Grimes 2023:37303278}, {PMID:Poli 2024:38177409}" "" "NM_014281:c.1574T>A" "" "De novo" "" "" "0" "" "" "g.143816575A>T" "" "likely pathogenic (dominant)" "" "0000964852" "0" "50" "8" "144906547" "144906547" "subst" "8.3042E-6" "02325" "PUF60_000043" "g.144906547C>A" "" "" "" "PUF60(NM_078480.3):c.47G>T (p.G16V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978069" "0" "30" "8" "144895550" "144895550" "subst" "1.22024E-5" "01804" "PUF60_000044" "g.144895550G>A" "" "" "" "SCRIB(NM_182706.5):c.504-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978070" "0" "70" "8" "144898700" "144898701" "del" "0" "02329" "PUF60_000045" "g.144898700_144898701del" "" "" "" "PUF60(NM_078480.3):c.1673_1674delCT (p.S558Cfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978071" "0" "50" "8" "144899297" "144899297" "subst" "4.29232E-6" "01804" "PUF60_000046" "g.144899297G>C" "" "" "" "PUF60(NM_078480.3):c.1163C>G (p.(Pro388Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978072" "0" "30" "8" "144899297" "144899299" "del" "0" "01804" "PUF60_000022" "g.144899297_144899299del" "" "" "" "PUF60(NM_001362896.2):c.1276_1278delCCT (p.P426del), PUF60(NM_078480.3):c.1165_1167del (p.(Pro389del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978073" "0" "90" "8" "144900200" "144900200" "subst" "0" "02327" "PUF60_000047" "g.144900200G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978074" "0" "30" "8" "144906533" "144906535" "dup" "0" "02325" "PUF60_000048" "g.144906533_144906535dup" "" "" "" "PUF60(NM_078480.3):c.72_74dupGGC (p.A25dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996987" "0" "50" "8" "144895116" "144895116" "subst" "2.87919E-5" "01804" "PUF60_000049" "g.144895116G>A" "" "" "" "SCRIB(NM_182706.4):c.658C>T (p.(Arg220Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996988" "0" "50" "8" "144895814" "144895814" "subst" "0" "01804" "PUF60_000050" "g.144895814C>T" "" "" "" "SCRIB(NM_182706.4):c.439G>A (p.(Val147Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996989" "0" "30" "8" "144895820" "144895820" "subst" "0.000711967" "01804" "PUF60_000051" "g.144895820C>T" "" "" "" "SCRIB(NM_182706.4):c.433G>A (p.(Gly145Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996990" "0" "30" "8" "144895850" "144895850" "subst" "0" "01804" "PUF60_000052" "g.144895850G>C" "" "" "" "SCRIB(NM_182706.4):c.403C>G (p.(Leu135Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996991" "0" "50" "8" "144897527" "144897527" "subst" "0" "01804" "PUF60_000053" "g.144897527G>C" "" "" "" "SCRIB(NM_182706.4):c.16C>G (p.(Pro6Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996992" "0" "10" "8" "144899300" "144899300" "subst" "0" "01804" "PUF60_000054" "g.144899300C>T" "" "" "" "PUF60(NM_078480.2):c.1160G>A (p.(Arg387His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996993" "0" "90" "8" "144900433" "144900433" "dup" "0" "02325" "PUF60_000055" "g.144900433dup" "" "" "" "PUF60(NM_078480.3):c.533dupA (p.V179Gfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996994" "0" "50" "8" "144906571" "144906571" "subst" "2.07994E-5" "01804" "PUF60_000056" "g.144906571T>C" "" "" "" "PUF60(NM_078480.2):c.25-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017939" "0" "70" "8" "144903987" "144903987" "subst" "0" "03544" "PUF60_000057" "g.144903987C>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.143821817C>G" "{CV:3544371}" "likely pathogenic" "ACMG" "0001022157" "0" "90" "8" "144911449" "144911449" "subst" "0" "04796" "PUF60_000001" "g.144911449C>G" "" "" "" "" "effect on RNA inclusion of intron sequences" "In vitro (cloned)" "" "" "0" "" "" "g.143829279C>G" "" "pathogenic" "" "0001036776" "0" "50" "8" "144896066" "144896066" "subst" "0.000617513" "01804" "PUF60_000058" "g.144896066T>G" "" "" "" "SCRIB(NM_182706.5):c.278A>C (p.(Asp93Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036777" "0" "30" "8" "144898992" "144898992" "subst" "6.56222E-5" "01804" "PUF60_000059" "g.144898992G>A" "" "" "" "PUF60(NM_078480.3):c.1381-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036778" "0" "50" "8" "144898993" "144898994" "del" "0" "01804" "PUF60_000060" "g.144898993_144898994del" "" "" "" "PUF60(NM_078480.3):c.1381-3_1381-2del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036779" "0" "30" "8" "144899897" "144899897" "subst" "0" "01804" "PUF60_000061" "g.144899897G>A" "" "" "" "PUF60(NM_078480.3):c.873C>T (p.(Asp291=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036780" "0" "30" "8" "144902609" "144902609" "subst" "0" "01804" "PUF60_000062" "g.144902609T>G" "" "" "" "PUF60(NM_078480.3):c.348+227A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036781" "0" "30" "8" "144902833" "144902833" "subst" "0.000109734" "01804" "PUF60_000018" "g.144902833G>A" "" "" "" "PUF60(NM_001136033.2):c.219+3C>T, PUF60(NM_078480.3):c.348+3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036782" "0" "70" "8" "144903784" "144903784" "subst" "0" "01804" "PUF60_000013" "g.144903784G>A" "" "" "" "PUF60(NM_078480.3):c.280C>T (p.(Gln94*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036783" "0" "30" "8" "144906530" "144906535" "dup" "0" "01804" "PUF60_000063" "g.144906530_144906535dup" "" "" "" "PUF60(NM_078480.3):c.69_74dup (p.(Ala24_Ala25dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036784" "0" "50" "8" "144911440" "144911440" "subst" "0" "01804" "NRBP2_000002" "g.144911440G>A" "" "" "" "PUF60(NM_078480.3):c.24+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036785" "0" "30" "8" "144914473" "144914473" "subst" "0" "01804" "NRBP2_000003" "g.144914473G>A" "" "" "" "PUF60(NM_078480.3):c.-3000C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 PUF60 ## Count = 73 "{{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}}" "0000117678" "00024149" "70" "24" "1" "24" "1" "c.24+1G>C" "r.spl" "p.?" "1i" "0000117679" "00024149" "70" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448*)" "11" "0000117680" "00024149" "50" "1448" "0" "1448" "0" "c.1448T>C" "r.(?)" "p.(Val483Ala)" "12" "0000117681" "00024149" "70" "407" "0" "410" "0" "c.407_410del" "r.(?)" "p.(Ile136Thrfs*31)" "6" "0000117682" "00024149" "70" "901" "0" "901" "0" "c.901A>T" "r.(?)" "p.(Lys301*)" "9" "0000126810" "00024149" "90" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(His169Tyr)" "6" "0000337226" "00024149" "70" "603" "2" "603" "2" "c.603+2T>C" "r.spl?" "p.?" "" "0000342915" "00024149" "70" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Ter)" "" "0000344741" "00024149" "90" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Gln295Ter)" "" "0000345013" "00024149" "70" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Gln94Ter)" "" "0000345454" "00024149" "50" "1452" "0" "1454" "0" "c.1452_1454del" "r.(?)" "p.(Glu486del)" "" "0000346748" "00024149" "70" "1492" "0" "1494" "0" "c.1492_1494del" "r.(?)" "p.(Ile498del)" "" "0000350279" "00024149" "70" "397" "0" "397" "0" "c.397G>T" "r.(?)" "p.(Val133Leu)" "" "0000533933" "00024149" "90" "1384" "0" "1393" "0" "c.1384_1393del" "r.(?)" "p.(Thr462PhefsTer19)" "" "0000533934" "00024149" "30" "1116" "0" "1116" "0" "c.1116G>A" "r.(?)" "p.(Met372Ile)" "" "0000533935" "00024149" "90" "1021" "0" "1021" "0" "c.1021G>T" "r.(?)" "p.(Gly341Ter)" "" "0000533936" "00024149" "90" "619" "0" "637" "0" "c.619_637del" "r.(?)" "p.(Asn207ProfsTer3)" "" "0000533937" "00024149" "30" "348" "3" "348" "3" "c.348+3C>T" "r.spl?" "p.?" "" "0000533938" "00024149" "30" "112" "-4" "112" "-4" "c.112-4C>T" "r.spl?" "p.?" "" "0000598440" "00024149" "70" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "" "0000611493" "00024149" "30" "1165" "0" "1167" "0" "c.1165_1167del" "r.(?)" "p.(Pro389del)" "" "0000611494" "00024149" "90" "510" "1" "510" "1" "c.510+1G>T" "r.spl?" "p.?" "" "0000622009" "00024149" "30" "4863" "0" "4863" "0" "c.*3183C>T" "r.(=)" "p.(=)" "" "0000660094" "00024149" "70" "822" "0" "822" "0" "c.822C>G" "r.(?)" "p.(Tyr274*)" "" "0000704184" "00024149" "70" "1172" "0" "1173" "0" "c.1172_1173insATA" "r.(?)" "p.(Pro391_Val392insTer)" "" "0000711132" "00024149" "70" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "" "0000721817" "00024149" "90" "948" "0" "952" "0" "c.948_952dup" "r.(?)" "p.(Leu318Glnfs*43)" "" "0000721818" "00024149" "50" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" "0000803482" "00024149" "30" "51" "0" "51" "0" "c.51G>T" "r.(?)" "p.(Gly17=)" "" "0000817699" "00024149" "70" "850" "0" "850" "0" "c.850dup" "r.(?)" "p.(Val284GlyfsTer8)" "" "0000832702" "00024149" "70" "382" "0" "383" "0" "c.382_383del" "r.(?)" "p.(Met128Valfs*11)" "6" "0000836991" "00024149" "70" "449" "0" "457" "0" "c.449_457del" "r.(?)" "p.(Ala150_Phe152del)" "" "0000851815" "00024149" "70" "24" "1" "24" "1" "c.24+1G>C" "r.spl?" "p.?" "" "0000861079" "00024149" "30" "24" "1790" "24" "1790" "c.24+1790C>A" "r.(=)" "p.(=)" "" "0000888193" "00024149" "90" "735" "0" "736" "0" "c.735_736del" "r.(?)" "p.(Phe246*)" "" "0000888194" "00024149" "90" "688" "0" "688" "0" "c.688del" "r.(?)" "p.(Val230Trpfs*58)" "" "0000888195" "00024149" "70" "510" "2" "510" "2" "c.510+2T>G" "r.spl?" "p.?" "" "0000888196" "00024149" "30" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Ala52Thr)" "" "0000888197" "00024149" "50" "11" "0" "11" "0" "c.11C>G" "r.(?)" "p.(Ala4Gly)" "" "0000912891" "00024149" "70" "1145" "-2" "1145" "-2" "c.1145-2A>G" "r.spl?" "p.?" "" "0000924830" "00024149" "50" "5904" "0" "5905" "0" "c.*4224_*4225del" "r.(=)" "p.(=)" "" "0000924831" "00024149" "70" "1203" "0" "1207" "0" "c.1203_1207del" "r.(?)" "p.(Ile403Glyfs*42)" "" "0000939833" "00024149" "70" "1381" "-2" "1381" "-2" "c.1381-2A>G" "r.spl?" "p.?" "" "0000939837" "00024149" "50" "24" "1" "24" "1" "c.24+1G>C" "r.spl" "p.?" "" "0000957722" "00024149" "50" "1625" "0" "1630" "0" "c.1625_1630del" "r.(?)" "p.(Val542_Val543del)" "" "0000960257" "00024149" "70" "1625" "0" "1625" "0" "c.1625T>A" "r.(?)" "p.(Val542Glu)" "" "0000964852" "00024149" "50" "47" "0" "47" "0" "c.47G>T" "r.(?)" "p.(Gly16Val)" "" "0000978069" "00024149" "30" "4820" "0" "4820" "0" "c.*3140C>T" "r.(=)" "p.(=)" "" "0000978070" "00024149" "70" "1673" "0" "1674" "0" "c.1673_1674del" "r.(?)" "p.(Ser558Cysfs*21)" "" "0000978071" "00024149" "50" "1163" "0" "1163" "0" "c.1163C>G" "r.(?)" "p.(Pro388Arg)" "" "0000978072" "00024149" "30" "1165" "0" "1167" "0" "c.1165_1167del" "r.(?)" "p.(Pro389del)" "" "0000978073" "00024149" "90" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Gln217*)" "" "0000978074" "00024149" "30" "72" "0" "74" "0" "c.72_74dup" "r.(?)" "p.(Ala25dup)" "" "0000996987" "00024149" "50" "5254" "0" "5254" "0" "c.*3574C>T" "r.(=)" "p.(=)" "" "0000996988" "00024149" "50" "4556" "0" "4556" "0" "c.*2876G>A" "r.(=)" "p.(=)" "" "0000996989" "00024149" "30" "4550" "0" "4550" "0" "c.*2870G>A" "r.(=)" "p.(=)" "" "0000996990" "00024149" "30" "4520" "0" "4520" "0" "c.*2840C>G" "r.(=)" "p.(=)" "" "0000996991" "00024149" "50" "2843" "0" "2843" "0" "c.*1163C>G" "r.(=)" "p.(=)" "" "0000996992" "00024149" "10" "1160" "0" "1160" "0" "c.1160G>A" "r.(?)" "p.(Arg387His)" "" "0000996993" "00024149" "90" "533" "0" "533" "0" "c.533dup" "r.(?)" "p.(Val179Glyfs*42)" "" "0000996994" "00024149" "50" "25" "-2" "25" "-2" "c.25-2A>G" "r.spl?" "p.?" "" "0001017939" "00024149" "70" "207" "1" "207" "1" "c.207+1G>C" "r.spl" "p.?" "" "0001022157" "00024149" "90" "24" "1" "24" "1" "c.24+1G>C" "r.[24_25insCTAA,=]" "p.[Gln9LeufsTer132,=]" "1i" "0001036776" "00024149" "50" "4304" "0" "4304" "0" "c.*2624A>C" "r.(=)" "p.(=)" "" "0001036777" "00024149" "30" "1381" "-3" "1381" "-3" "c.1381-3C>T" "r.spl?" "p.?" "" "0001036778" "00024149" "50" "1381" "-3" "1381" "-2" "c.1381-3_1381-2del" "r.spl?" "p.?" "" "0001036779" "00024149" "30" "873" "0" "873" "0" "c.873C>T" "r.(?)" "p.(=)" "" "0001036780" "00024149" "30" "348" "227" "348" "227" "c.348+227A>C" "r.(=)" "p.(=)" "" "0001036781" "00024149" "30" "348" "3" "348" "3" "c.348+3C>T" "r.spl?" "p.?" "" "0001036782" "00024149" "70" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Gln94Ter)" "" "0001036783" "00024149" "30" "69" "0" "74" "0" "c.69_74dup" "r.(?)" "p.(Ala24_Ala25dup)" "" "0001036784" "00024149" "50" "24" "10" "24" "10" "c.24+10C>T" "r.(=)" "p.(=)" "" "0001036785" "00024149" "30" "-3000" "0" "-3000" "0" "c.-3000C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000073896" "0000117678" "0000073897" "0000117679" "0000073898" "0000117680" "0000073899" "0000117681" "0000073900" "0000117682" "0000079078" "0000126810" "0000267383" "0000598440" "0000297492" "0000660094" "0000321355" "0000704184" "0000327426" "0000711132" "0000388901" "0000817699" "0000399996" "0000832702" "0000402757" "0000836991" "0000441891" "0000939833" "0000441895" "0000939837" "0000448316" "0000957722" "0000449774" "0000960257" "0000459792" "0001017939" "0000462630" "0001022157"