### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDC42BPB) # 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}}" "CDC42BPB" "CDC42 binding protein kinase beta (DMPK-like)" "14" "q32.32" "unknown" "NC_000014.8" "UD_132319838692" "" "https://www.LOVD.nl/CDC42BPB" "" "1" "1738" "9578" "614062" "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/CDC42BPB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-02-12 19:44:28" "00006" "2026-02-18 11:25:58" ## 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}}" "00004789" "CDC42BPB" "CDC42 binding protein kinase beta (DMPK-like)" "001" "NM_006035.3" "" "NP_006026.3" "" "" "" "-232" "6469" "5136" "103523742" "103398716" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07229" "CHOCNS" "Chilton-Okur-Chung neurodevelopmental syndrome" "AD" "619841" "" "developmental delay (12/13), intellectual disability (7/13), hypotonia (8/11), autism spectrum disorder (8/12)" "" "00006" "2026-02-12 19:45:38" "00006" "2026-02-18 10:56:41" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CDC42BPB" "07229" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00334663" "" "" "" "5" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334664" "" "" "" "5" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00426191" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "yes" "Oman" "" "0" "" "" "" "10SS5400" "00448212" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat100" "00472431" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00472478" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat1" "00472479" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00472480" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat3" "00472481" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, affected fetus (terminated 27wg), unaffected non-carrier parents" "M" "" "" "<0d" "0" "" "" "" "Pat4" "00472482" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat5" "00472483" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat6" "00472484" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00472485" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00472486" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00472487" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat10" "00472488" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "" "" "0" "" "" "" "Pat11" "00472489" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat12" "00472490" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat13" "00472491" "" "" "" "1" "" "00006" "{PMID:Chilton 2020:32031333}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat14" "00472492" "" "" "" "3" "" "00006" "{PMID:Luo 2020:32043305}" "3-generation family, 3 affectd sistrs, unaffected heterozugous carrier parents" "F" "" "China" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00334663" "04214" "00334664" "04214" "00426191" "00139" "00448212" "00198" "00472431" "05533" "00472478" "05611" "00472479" "05611" "00472480" "05611" "00472481" "05611" "00472482" "05611" "00472483" "05611" "00472484" "05611" "00472485" "05611" "00472486" "05611" "00472487" "05611" "00472488" "05611" "00472489" "05611" "00472490" "05611" "00472491" "05611" "00472492" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04214, 05533, 05611, 07229 ## Count = 18 "{{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}}" "0000317341" "00139" "00426191" "00006" "Familial, autosomal recessive" "4y" "Hypotonia, global developmental delay, and seizures. Parents are healthy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000337422" "00198" "00448212" "00006" "Isolated (sporadic)" "16y" "intellectual disability-moderate; seizure; autism spectrum disorder; aggressive behavior; short stature" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000357241" "05533" "00472431" "01164" "Unknown" "02y" "Neurodevelopmental delay, Autistic behavior, Hypotonia" "" "" "" "" "" "" "" "" "CHOCNS" "" "" "0000357288" "05611" "00472478" "00006" "Isolated (sporadic)" "11y" "see paper; ..., no prenatal anomalies; no neonatal aproblems; normal growth; developmental delay; intellectual disability (IQ=25); autism; aggressive, attention deficit hyperactivity disorder/attention deficit disorder; 36m-walk; 10y-speech, short sentences; hypotonia; no seizures, EEG abnormal; MRI brain microcephaly, cerebellar vermis hypoplasia; ptosis, hypermetropia, alternating esotropia; no gastrointestinal anomalies; unilateral cryptorchidism; patent foramen ovale; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; limb hypertonia, upper limb tremor, scoliosis, joint hypermobility, cleft fifth lumbar arch; long face, arched sparse eyebrows, long eyelashes, bilateral ptosis, upslanted palpebral fissure, strabismus, high nasal root, broad nasal tip, short philtrum, widely spaced teeth Extremities: pes valgus Chest: asymmetry of the thorax, pectoral hypoplasia/aplasia, short clavicles" "" "" "" "" "" "" "" "" "CHOCNS" "neurodevelopmental delau" "" "0000357289" "05611" "00472479" "00006" "Isolated (sporadic)" "14y" "see paper; ..., no prenatal anomalies; no neonatal aproblems; normal growth; fine motor developmental delay; no intellectual disability; autism (Asperger); no behavioral problems; 18m-walk; normal speech; no hypotonia; no seizures; MRI brain intraparenchymal hemorrhage secondary to arteriovenous malformation; no visual anomalies; no gastrointestinal anomalies; no genitourinary anomalies; no cardiovascular anomalies; no history of easy bruising, coagulation and blood count tests were normal; asthma in infancy, recurrent laryngitis; no dysmorphic features" "" "" "" "" "" "" "" "" "CHOCNS" "congenital lactic acidosis" "" "0000357290" "05611" "00472480" "00006" "Isolated (sporadic)" "29y" "see paper; ..., no prenatal anomalies; no neonatal aproblems; normal growth; developmental delay; intellectual disability (IQ=56); anxiety, aggression; delayed sit; delayed walk; delayed speech; MRI brain normal; no history of easy bruising and/or bleeding, enlarged platelets not measured; synophris, sparse scalp hair, widely spaced teeth" "" "" "" "" "" "" "" "" "CHOCNS" "congenital lactic acidosis" "" "0000357291" "05611" "00472481" "00006" "Isolated (sporadic)" "<0d" "see paper; ..., prenatal cystic hygroma, progressive ventriculomegaly; normal growth;;" "" "" "" "" "" "" "" "" "CHOCNS" "" "" "0000357292" "05611" "00472482" "00006" "Isolated (sporadic)" "8y4m" "see paper; ..., prenatal dilated cerebral ventricles, dilated renal pelvices; neonatal magnesium toxicity; normal growth; developmental delay; no intellectual disability; autism; aggressive; 9m-sit; 19m-walk; 12m-speech, full sentences; hypotonia; seizures, partial complex; MRI brain thinning corpus callosum, supratentorial white matter volume loss, communicating hydrocephalus with prominent disproportionate dilation of the lateral and third ventricles with moderate prominence cerebral sulci; no visual anomalies; constipation; micropenis, cryptorchidism, chordee; no cardiovascular anomalies; bilateral high frequency sensorineural hearing loss; left parietal cephalohematoma; macrocephalic, plagiocephaly, broad forehead, mild prognathism, hooded lids, downslanting palpebral fissures, downslanting eyebrows, sparse right lateral eyebrow, slightly low columella, narrow and smooth philtrum, thin upper vermillion Extremities: tapered thumbs and fingers, short nail beds" "" "" "" "" "" "" "" "" "CHOCNS" "congenital lactic acidosis" "" "0000357293" "05611" "00472483" "00006" "Isolated (sporadic)" "4y" "see paper; ..., no prenatal anomalies; neonatal nesaturations, hypoglycemia, jaundice; normal growth; developmental delay; intellectual disability; autism; repetitive/stereotypical behavior; 6m-sit; 14m-walk; 15m-speech, babbling, speech regression; axial hypotonia; seizures; MRI brain mild brainstem/cerebellar vermis hypoplasia, decreased white matter occipital horns, fatty filum terminale with large extradural sacral arachnoid cyst; no visual anomalies; no gastrointestinal anomalies; no genitourinary anomalies; PDA; recurrent otitis media; no dysmorphic features" "" "" "" "" "" "" "" "" "CHOCNS" "congenital lactic acidosis" "" "0000357294" "05611" "00472484" "00006" "Isolated (sporadic)" "12y" "see paper; ..., no prenatal anomalies; neonatal naundice, feeding difficulties; short stature; developmental delay; intellectual disability; no autism; no behavioral problems; 22m-sit; walk not acquired; 4y-speech, single words; hypotonia; seizures, generalized convulsions; MRI brain cerebellar vermis hypoplasia, agenesis of the corpus callosum, pituitary hypoplasia; unilateral strabismus; no gastrointestinal anomalies; micropenis, cryptorchidism; ectopic and fused kidneys, partial gh deficiency; occipital plagiocephaly, frontal bossing, small low-set ears, large mouth, no incisor" "" "" "" "" "" "" "" "" "CHOCNS" "congenital lactic acidosis" "" "0000357295" "05611" "00472485" "00006" "Isolated (sporadic)" "2y6m" "see paper; ..., no prenatal anomalies; no neonatal aproblems; underweight; no developmental delay; no intellectual disability; no autism; no behavioral problems; 6m-sit; 12m-walk; 12m-speech; no hypotonia; no seizures; MRI brain normal; no visual anomalies; gastrointestinal malrotation; no genitourinary anomalies; no cardiovascular anomalies; right-sided congenital diaphragmatic hernia, frequent vomiting, g-tube fed; no dysmorphic features" "" "" "" "" "" "" "" "" "CHOCNS" "congenital lactic acidosis" "" "0000357296" "05611" "00472486" "00006" "Isolated (sporadic)" "6y" "see paper; ..., no prenatal anomalies; no neonatal aproblems; normal growth; speech delay; no intellectual disability; autism; repetitive/stereotypical behavior, anxiety; normal age sit; normal age walk; 12m-speech, regression; hypotonia; no seizures; MRI brain normal; constipation; epistaxis, recurrent otitis media; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; frequent upper respiratory infection; no dysmorphic features" "" "" "" "" "" "" "" "" "CHOCNS" "congenital lactic acidosis" "" "0000357297" "05611" "00472487" "00006" "Isolated (sporadic)" "29y" "see paper; ..., reduced fetal movement; neonatal jaundice; overweight; developmental delay; intellectual disability (IQ=80); no autism; overeating, sneaking food; 24m-walk; delayed speech; hypotonia; no seizures; MRI brain normal; amblyopia; no gastrointestinal anomalies; no genitourinary anomalies; no cardiovascular anomalies; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; no dysmorphic features" "" "" "" "" "" "" "" "" "CHOCNS" "congenital lactic acidosis" "" "0000357298" "05611" "00472488" "00006" "Unknown" "10y" "see paper; ..., prenatal polyhydramnios; no neonatal aproblems; normal growth; developmental delay; intellectual disability; autism; no behavioral problems; 5y-speech; no hypotonia; no seizures; MRI brain septo-optic dysplasia; septo-optic dysplasia, optic atrophy; constipation; no genitourinary anomalies; no cardiovascular anomalies; recurrent otitis media; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; obstructive sleep apnea; high forehead, broad nasal tip, sparse hair and eyebrows, full cheeks Extremities: Long, thin fingers with ulnar deviation of left middle finger, hyperextension of distal fifth fingers, short fourth and fifth metatarsals, cone-shaped epiphyses chest pectus excavatum" "" "" "" "" "" "" "" "" "CHOCNS" "congenital lactic acidosis" "" "0000357299" "05611" "00472489" "00006" "Unknown" "12y3m" "see paper; ..., no prenatal anomalies; no neonatal aproblems; tall and thin body habitus; proportionate; global developmental delay; intellectual disability(FSIQ=83); autism; aggressive/violent behavior, self-injurious, attention deficit hyperactivity disorder, anxiety, impulsivity; delayed speech; generalized hypotonia; no seizures; MRI brain normal; congenital ptosis; no gastrointestinal anomalies; no genitourinary anomalies; no cardiovascular anomalies; chronic nasal congestion, adenotonsillar hypertrophy; obstructive sleep apnea, sleep disturbance, poor balance, poor coordination, joint hypermobility; dolichocephaly, low anterior hairline, downslanted palpebral fissures, ptosis, hypertelorism, telecanthus, thick arched eyebrows, thick helical cartilage, uplifted left earlobe, high nasal bridge, anteverted nares, micrognathia, thin vermilion, large maxillary central incisors Extremities: pes planus, tapered fingers, single palmar creases chest pectus excavatum" "" "" "" "" "" "" "" "" "CHOCNS" "congenital lactic acidosis" "" "0000357300" "05611" "00472490" "00006" "Unknown" "2y" "see paper; ..., prenatal polyhydramnios; neonatal left pyelectasis with Grade 2 reflux; overweight; speech delay; no intellectual disability; no autism; overeating; 6m-sit; 13m-walk; delayed speech, 5 words; hypotonia, 10m-positive slip through; no seizures; MRI brain benign enlargement of sub-arachnoid spaces; no visual anomalies; silent aspiration; hypospadias; no cardiovascular anomalies; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; left pelviectasis with grade 2 reflux; macrocephalic, hypertelorism (intercanthal distance >2.3 SD), small palpebral fissures, flat nasal bridge, anteverted nares, tongue tie" "" "" "" "" "" "" "" "" "CHOCNS" "congenital lactic acidosis" "" "0000357301" "05611" "00472491" "00006" "Isolated (sporadic)" "14y" "see paper; ..., intra-uterine growth restriction, oligohydramnios; short stature; developmental delay; autism; attention deficit hyperactivity disorder/attention deficit disorder, mood and behavior problems; 9m-sit; 15m-walk; 4y-speech, sentences; no seizures; wears glasses; cryptorchidism; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; Extremities: wide feet, short and broad fingers epicanthus inversus; wide umbilicus" "" "" "" "" "" "" "" "" "CHOCNS" "congenital lactic acidosis" "" "0000357302" "00198" "00472492" "00006" "Unknown" "" "see paper; ..., septate uterus" "" "" "" "" "" "" "" "" "" "Mullerian duct anomaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000335892" "00334663" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000335893" "00334664" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000427511" "00426191" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449787" "00448212" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474100" "00472431" "1" "01164" "01164" "2026-02-12 17:27:31" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000474146" "00472478" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474147" "00472479" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474148" "00472480" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474149" "00472481" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474150" "00472482" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474151" "00472483" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474152" "00472484" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474153" "00472485" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474154" "00472486" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474155" "00472487" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474156" "00472488" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474157" "00472489" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474158" "00472490" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474159" "00472491" "1" "00006" "00006" "2026-02-18 11:04:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474160" "00472492" "1" "00006" "00006" "2026-02-18 11:24:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000474100" "CDC42BPB" ## 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 = 107 "{{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}}" "0000272891" "0" "30" "14" "103440419" "103440419" "subst" "0.00182464" "01943" "CDC42BPB_000003" "g.103440419C>T" "" "" "" "CDC42BPB(NM_006035.4):c.1575G>A (p.T525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102974082C>T" "" "likely benign" "" "0000272892" "0" "50" "14" "103438431" "103438431" "subst" "0.000357381" "01943" "CDC42BPB_000002" "g.103438431C>T" "" "" "" "CDC42BPB(NM_006035.4):c.1709G>A (p.R570Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102972094C>T" "" "VUS" "" "0000272893" "0" "30" "14" "103420978" "103420978" "subst" "0.000178866" "01943" "CDC42BPB_000001" "g.103420978C>T" "" "" "" "CDC42BPB(NM_006035.4):c.2949G>A (p.A983=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102954641C>T" "" "likely benign" "" "0000323862" "0" "50" "14" "103396737" "103396737" "subst" "0.00217376" "01804" "AMN_000021" "g.103396737C>T" "" "" "" "AMN(NM_030943.3):c.1170-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102930400C>T" "" "VUS" "" "0000340798" "0" "50" "14" "103395096" "103395096" "subst" "1.68806E-5" "02327" "AMN_000024" "g.103395096C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102928759C>A" "" "VUS" "" "0000551288" "0" "30" "14" "103395155" "103395155" "subst" "8.33354E-6" "01804" "AMN_000026" "g.103395155G>T" "" "" "" "AMN(NM_030943.3):c.356G>T (p.(Arg119Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102928818G>T" "" "likely benign" "" "0000551289" "0" "30" "14" "103396618" "103396618" "subst" "0" "01804" "AMN_000027" "g.103396618G>A" "" "" "" "AMN(NM_030943.3):c.1123G>A (p.(Val375Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102930281G>A" "" "likely benign" "" "0000679878" "0" "30" "14" "103396662" "103396662" "subst" "0" "01943" "AMN_000028" "g.103396662C>A" "" "" "" "AMN(NM_030943.3):c.1167C>A (p.L389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691576" "0" "30" "14" "103394753" "103394753" "subst" "0.000776958" "02326" "AMN_000029" "g.103394753T>C" "" "" "" "AMN(NM_030943.3):c.208-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691577" "0" "50" "14" "103396592" "103396592" "subst" "0" "01943" "AMN_000030" "g.103396592C>A" "" "" "" "AMN(NM_030943.3):c.1097C>A (p.A366E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724626" "0" "30" "14" "103396737" "103396737" "subst" "0.00217376" "02326" "AMN_000021" "g.103396737C>T" "" "" "" "AMN(NM_030943.3):c.1170-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724627" "0" "50" "14" "103396965" "103396965" "subst" "0" "01943" "AMN_000031" "g.103396965G>A" "" "" "" "AMN(NM_030943.3):c.1310G>A (p.S437N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734804" "0" "30" "14" "103399238" "103399238" "subst" "0" "00000" "CDC42BPB_000008" "g.103399238C>G" "5/25 families" "{PMID:Maranhao 2015:26352687}" "" "AMN:c.*512+d1709C>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000734805" "0" "30" "14" "103399238" "103399238" "subst" "0" "00000" "CDC42BPB_000008" "g.103399238C>G" "5/25 families" "{PMID:Maranhao 2015:26352687}" "" "CDC42BPB:c.*811G>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000806254" "0" "30" "14" "103395144" "103395144" "subst" "4.99771E-5" "01943" "AMN_000033" "g.103395144G>A" "" "" "" "AMN(NM_030943.3):c.345G>A (p.P115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806255" "0" "30" "14" "103396086" "103396086" "subst" "0.00254205" "02326" "AMN_000034" "g.103396086G>A" "" "" "" "AMN(NM_030943.3):c.843+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806256" "0" "50" "14" "103406051" "103406051" "subst" "0.00112479" "02325" "CDC42BPB_000009" "g.103406051C>G" "" "" "" "CDC42BPB(NM_006035.4):c.4723G>C (p.D1575H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806257" "0" "50" "14" "103470294" "103470294" "subst" "0" "02325" "CDC42BPB_000010" "g.103470294G>A" "" "" "" "CDC42BPB(NM_006035.4):c.418C>T (p.H140Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853712" "0" "30" "14" "103394747" "103394747" "subst" "0.00205437" "02326" "AMN_000035" "g.103394747C>T" "" "" "" "AMN(NM_030943.3):c.208-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853713" "0" "50" "14" "103404473" "103404473" "subst" "2.43758E-5" "02325" "CDC42BPB_000011" "g.103404473T>A" "" "" "" "CDC42BPB(NM_006035.4):c.4972A>T (p.M1658L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853714" "0" "50" "14" "103410242" "103410242" "subst" "0" "02325" "CDC42BPB_000012" "g.103410242G>A" "" "" "" "CDC42BPB(NM_006035.4):c.4394C>T (p.A1465V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853715" "0" "50" "14" "103430929" "103430929" "subst" "0" "02325" "CDC42BPB_000013" "g.103430929A>G" "" "" "" "CDC42BPB(NM_006035.4):c.2636T>C (p.L879P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863431" "0" "90" "14" "103396588" "103396595" "dup" "0" "01943" "AMN_000036" "g.103396588_103396595dup" "" "" "" "AMN(NM_030943.3):c.1093_1100dupGTGGCGGC (p.A368Wfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000891640" "0" "30" "14" "103395123" "103395123" "subst" "0.00123531" "02326" "AMN_000038" "g.103395123C>T" "" "" "" "AMN(NM_030943.3):c.324C>T (p.D108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891641" "0" "10" "14" "103395424" "103395424" "subst" "0.00149952" "02326" "AMN_000039" "g.103395424G>C" "" "" "" "AMN(NM_030943.3):c.514-34G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891642" "0" "30" "14" "103396936" "103396936" "subst" "1.0469E-5" "02326" "AMN_000040" "g.103396936G>C" "" "" "" "AMN(NM_030943.3):c.1281G>C (p.L427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891643" "0" "30" "14" "103406666" "103406666" "subst" "2.43386E-5" "02325" "CDC42BPB_000014" "g.103406666C>T" "" "" "" "CDC42BPB(NM_006035.4):c.4409-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891644" "0" "50" "14" "103421006" "103421006" "subst" "0" "02325" "CDC42BPB_000015" "g.103421006T>G" "" "" "" "CDC42BPB(NM_006035.4):c.2921A>C (p.(Gln974Pro), p.Q974P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891645" "0" "70" "14" "103434808" "103434808" "subst" "0" "02327" "CDC42BPB_000016" "g.103434808C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000891646" "0" "50" "14" "103438476" "103438476" "subst" "0.00123179" "02325" "CDC42BPB_000017" "g.103438476C>T" "" "" "" "CDC42BPB(NM_006035.4):c.1664G>A (p.R555Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000904888" "3" "70" "14" "103410695" "103410695" "del" "0" "00006" "CDC42BPB_000018" "g.103410695del" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "reported as candidate disease gene" "Germline" "" "" "0" "" "" "g.102944358del" "" "VUS" "" "0000914136" "0" "30" "14" "103395086" "103395086" "subst" "0.00241224" "02326" "AMN_000041" "g.103395086C>T" "" "" "" "AMN(NM_030943.3):c.296-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914137" "0" "30" "14" "103395499" "103395499" "subst" "0" "02326" "AMN_000042" "g.103395499C>T" "" "" "" "AMN(NM_030943.3):c.555C>T (p.S185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925831" "0" "30" "14" "103396085" "103396085" "subst" "0.0022601" "02326" "AMN_000043" "g.103396085C>T" "" "" "" "AMN(NM_030943.3):c.843+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925832" "0" "50" "14" "103430912" "103430912" "subst" "0" "02325" "CDC42BPB_000019" "g.103430912C>T" "" "" "" "CDC42BPB(NM_006035.4):c.2653G>A (p.A885T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925833" "0" "50" "14" "103434586" "103434586" "subst" "0" "02329" "CDC42BPB_000020" "g.103434586T>C" "" "" "" "CDC42BPB(NM_006035.4):c.2346+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930262" "0" "30" "14" "103414083" "103414083" "subst" "2.44302E-5" "02325" "CDC42BPB_000021" "g.103414083C>T" "" "" "" "CDC42BPB(NM_006035.3):c.3506G>A (p.(Arg1169His)), CDC42BPB(NM_006035.4):c.3506G>A (p.R1169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930263" "0" "30" "14" "103420596" "103420596" "subst" "3.85327E-5" "02325" "CDC42BPB_000022" "g.103420596G>A" "" "" "" "CDC42BPB(NM_006035.4):c.3005C>T (p.P1002L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930264" "0" "50" "14" "103474837" "103474837" "subst" "0" "02325" "CDC42BPB_000023" "g.103474837T>C" "" "" "" "CDC42BPB(NM_006035.4):c.323A>G (p.N108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950199" "0" "50" "14" "103412999" "103412999" "subst" "0" "02325" "CDC42BPB_000024" "g.103412999G>A" "" "" "" "CDC42BPB(NM_006035.4):c.3554C>T (p.A1185V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960270" "0" "70" "14" "103430838" "103430838" "subst" "0" "00006" "CDC42BPB_000025" "g.103430838C>T" "" "{PMID:Poli 2024:38177409}" "" "" "" "De novo" "" "" "0" "" "" "g.102964501C>T" "" "likely pathogenic (dominant)" "" "0000967388" "0" "70" "14" "103396910" "103396926" "del" "0" "02326" "AMN_000044" "g.103396910_103396926del" "" "" "" "AMN(NM_030943.3):c.1258-5_1269delCGCAGCCCCTGCCGCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980751" "0" "30" "14" "103412797" "103412797" "subst" "0.000281313" "01804" "CDC42BPB_000026" "g.103412797G>C" "" "" "" "CDC42BPB(NM_006035.4):c.3748+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980752" "0" "50" "14" "103438459" "103438459" "subst" "4.0625E-6" "01804" "CDC42BPB_000027" "g.103438459T>C" "" "" "" "CDC42BPB(NM_006035.4):c.1681A>G (p.(Lys561Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980753" "0" "30" "14" "103454158" "103454161" "dup" "0" "01804" "CDC42BPB_000028" "g.103454158_103454161dup" "" "" "" "CDC42BPB(NM_006035.4):c.597-1212_597-1209dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000686" "0" "30" "14" "103396004" "103396004" "subst" "0.00433538" "01804" "AMN_000045" "g.103396004T>C" "" "" "" "AMN(NM_030943.3):c.773T>C (p.(Leu258Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000687" "0" "30" "14" "103400102" "103400102" "subst" "3.91586E-5" "01804" "AMN_000046" "g.103400102G>T" "" "" "" "CDC42BPB(NM_006035.3):c.5083C>A (p.(His1695Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000688" "0" "30" "14" "103404751" "103404751" "subst" "0" "01804" "CDC42BPB_000029" "g.103404751G>A" "" "" "" "CDC42BPB(NM_006035.3):c.4828-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000689" "0" "30" "14" "103405967" "103405967" "subst" "0" "01804" "CDC42BPB_000030" "g.103405967C>A" "" "" "" "CDC42BPB(NM_006035.3):c.4807G>T (p.(Val1603Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000690" "0" "30" "14" "103406427" "103406427" "subst" "3.25066E-5" "01804" "CDC42BPB_000031" "g.103406427T>C" "" "" "" "CDC42BPB(NM_006035.3):c.4547A>G (p.(Asn1516Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000691" "0" "30" "14" "103406566" "103406566" "subst" "0" "01804" "CDC42BPB_000032" "g.103406566T>C" "" "" "" "CDC42BPB(NM_006035.3):c.4504A>G (p.(Arg1502Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000692" "0" "30" "14" "103410464" "103410464" "subst" "2.03538E-5" "01804" "CDC42BPB_000033" "g.103410464G>A" "" "" "" "CDC42BPB(NM_006035.3):c.4172C>T (p.(Pro1391Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000693" "0" "30" "14" "103410626" "103410626" "subst" "8.14107E-6" "01804" "CDC42BPB_000034" "g.103410626T>C" "" "" "" "CDC42BPB(NM_006035.3):c.4010A>G (p.(Lys1337Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000694" "0" "50" "14" "103412811" "103412811" "subst" "0" "01804" "CDC42BPB_000035" "g.103412811T>C" "" "" "" "CDC42BPB(NM_006035.3):c.3742A>G (p.(Ile1248Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000695" "0" "50" "14" "103414083" "103414083" "subst" "2.44302E-5" "01804" "CDC42BPB_000021" "g.103414083C>T" "" "" "" "CDC42BPB(NM_006035.3):c.3506G>A (p.(Arg1169His)), CDC42BPB(NM_006035.4):c.3506G>A (p.R1169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000696" "0" "50" "14" "103416241" "103416241" "subst" "0" "01804" "CDC42BPB_000036" "g.103416241C>T" "" "" "" "CDC42BPB(NM_006035.3):c.3310G>A (p.(Val1104Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000697" "0" "30" "14" "103416883" "103416883" "subst" "0.000632194" "01804" "CDC42BPB_000037" "g.103416883T>C" "" "" "" "CDC42BPB(NM_006035.3):c.3229A>G (p.(Ile1077Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000698" "0" "30" "14" "103420998" "103420998" "subst" "0" "01804" "CDC42BPB_000038" "g.103420998G>T" "" "" "" "CDC42BPB(NM_006035.3):c.2929C>A (p.(Gln977Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000699" "0" "30" "14" "103421021" "103421021" "subst" "0" "01804" "CDC42BPB_000039" "g.103421021C>G" "" "" "" "CDC42BPB(NM_006035.3):c.2906G>C (p.(Ser969Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000700" "0" "70" "14" "103438374" "103438374" "del" "0" "01804" "CDC42BPB_000040" "g.103438374del" "" "" "" "CDC42BPB(NM_006035.3):c.1768delC (p.(Gln590fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000701" "0" "50" "14" "103440358" "103440358" "subst" "2.48429E-5" "02325" "CDC42BPB_000041" "g.103440358G>A" "" "" "" "CDC42BPB(NM_006035.4):c.1636C>T (p.H546Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000702" "0" "30" "14" "103440415" "103440415" "subst" "1.62632E-5" "01804" "CDC42BPB_000042" "g.103440415G>A" "" "" "" "CDC42BPB(NM_006035.3):c.1579C>T (p.(Arg527Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000703" "0" "50" "14" "103447198" "103447198" "subst" "8.12123E-6" "01804" "CDC42BPB_000043" "g.103447198C>T" "" "" "" "CDC42BPB(NM_006035.3):c.1052G>A (p.(Arg351Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000704" "0" "50" "14" "103452886" "103452886" "subst" "0" "01804" "CDC42BPB_000044" "g.103452886C>T" "" "" "" "CDC42BPB(NM_006035.3):c.628G>A (p.(Val210Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000705" "0" "50" "14" "103470357" "103470357" "subst" "0" "01804" "CDC42BPB_000045" "g.103470357C>T" "" "" "" "CDC42BPB(NM_006035.3):c.355G>A (p.(Ala119Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000706" "0" "50" "14" "103478474" "103478475" "del" "0" "01804" "CDC42BPB_000046" "g.103478474_103478475del" "" "" "" "CDC42BPB(NM_006035.3):c.227_228delTT (p.(Phe76fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000707" "0" "50" "14" "103523506" "103523506" "subst" "0" "02325" "CDC42BPB_000047" "g.103523506G>A" "" "" "" "CDC42BPB(NM_006035.4):c.5C>T (p.S2L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017849" "0" "70" "14" "103442072" "103442075" "del" "0" "03779" "CDC42BPB_000048" "g.103442072_103442075del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001026351" "0" "50" "14" "103410234" "103410234" "subst" "9.58198E-5" "02325" "CDC42BPB_000049" "g.103410234C>T" "" "" "" "CDC42BPB(NM_006035.4):c.4402G>A (p.A1468T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026352" "0" "50" "14" "103416850" "103416850" "subst" "2.44916E-5" "02325" "CDC42BPB_000050" "g.103416850C>T" "" "" "" "CDC42BPB(NM_006035.4):c.3262G>A (p.V1088M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039782" "0" "30" "14" "103415912" "103415912" "subst" "0" "01804" "CDC42BPB_000051" "g.103415912T>C" "" "" "" "CDC42BPB(NM_006035.4):c.3449+190A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039783" "0" "30" "14" "103421006" "103421006" "subst" "0" "01804" "CDC42BPB_000015" "g.103421006T>G" "" "" "" "CDC42BPB(NM_006035.4):c.2921A>C (p.(Gln974Pro), p.Q974P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039784" "0" "30" "14" "103433374" "103433374" "subst" "3.25365E-5" "01804" "CDC42BPB_000052" "g.103433374C>T" "" "" "" "CDC42BPB(NM_006035.4):c.2471+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039785" "0" "30" "14" "103438340" "103438340" "subst" "1.21839E-5" "01804" "CDC42BPB_000053" "g.103438340G>T" "" "" "" "CDC42BPB(NM_006035.4):c.1800C>A (p.(Asp600Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039786" "0" "50" "14" "103452885" "103452885" "subst" "0" "01804" "CDC42BPB_000054" "g.103452885A>T" "" "" "" "CDC42BPB(NM_006035.4):c.629T>A (p.(Val210Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039787" "0" "30" "14" "103470696" "103470696" "subst" "0" "01804" "CDC42BPB_000055" "g.103470696C>T" "" "" "" "CDC42BPB(NM_006035.4):c.352-336G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039788" "0" "30" "14" "103487564" "103487564" "subst" "0" "01804" "CDC42BPB_000056" "g.103487564G>A" "" "" "" "CDC42BPB(NM_006035.4):c.176-9039C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039789" "0" "30" "14" "103497159" "103497159" "subst" "0" "01804" "CDC42BPB_000057" "g.103497159A>G" "" "" "" "CDC42BPB(NM_006035.4):c.176-18634T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054980" "0" "50" "14" "103396656" "103396656" "subst" "0" "01804" "AMN_000047" "g.103396656G>T" "" "" "" "AMN(NM_030943.4):c.1161G>T (p.(Gly387=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054981" "0" "50" "14" "103404645" "103404645" "subst" "0" "01804" "CDC42BPB_000058" "g.103404645G>A" "" "" "" "CDC42BPB(NM_006035.4):c.4931C>T (p.(Ser1644Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054982" "0" "30" "14" "103410339" "103410339" "subst" "4.06709E-6" "01804" "CDC42BPB_000059" "g.103410339C>T" "" "" "" "CDC42BPB(NM_006035.4):c.4297G>A (p.(Glu1433Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054983" "0" "50" "14" "103412041" "103412041" "subst" "0" "01804" "CDC42BPB_000060" "g.103412041C>T" "" "" "" "CDC42BPB(NM_006035.4):c.3769G>A (p.(Gly1257Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054984" "0" "30" "14" "103420529" "103420529" "subst" "0" "01804" "CDC42BPB_000061" "g.103420529C>A" "" "" "" "CDC42BPB(NM_006035.4):c.3066+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054985" "0" "30" "14" "103434266" "103434266" "subst" "0" "01804" "CDC42BPB_000062" "g.103434266A>T" "" "" "" "CDC42BPB(NM_006035.4):c.2346+324T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054986" "0" "90" "14" "103442072" "103442075" "del" "0" "01804" "CDC42BPB_000048" "g.103442072_103442075del" "" "" "" "CDC42BPB(NM_006035.4):c.1456_1459del (p.(Glu486Serfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001066141" "0" "50" "14" "103421004" "103421004" "subst" "0" "02325" "CDC42BPB_000063" "g.103421004C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066142" "0" "50" "14" "103434698" "103434698" "subst" "0" "02325" "CDC42BPB_000064" "g.103434698G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066143" "0" "50" "14" "103436565" "103436565" "subst" "0" "02325" "CDC42BPB_000065" "g.103436565C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066144" "0" "50" "14" "103444530" "103444530" "subst" "0" "02325" "CDC42BPB_000066" "g.103444530G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066145" "0" "30" "14" "103470298" "103470298" "subst" "0" "02325" "CDC42BPB_000067" "g.103470298C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066146" "0" "50" "14" "103474832" "103474832" "subst" "0" "02325" "CDC42BPB_000068" "g.103474832A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001068254" "0" "50" "14" "103449928" "103449928" "subst" "0" "01164" "CDC42BPB_000069" "g.103449928G>A" "" "" "" "" "ACMG/AMP: PM2-supporting,PP2-supporting" "Germline" "?" "" "" "" "" "g.102983591G>A" "" "VUS" "ACMG" "0001068375" "0" "90" "14" "103470288" "103470288" "subst" "0" "00006" "CDC42BPB_000080" "g.103470288C>T" "" "{PMID:Chilton 2020:32031333}" "" "" "" "De novo" "" "" "0" "" "" "g.103003951C>T" "" "pathogenic (dominant)" "" "0001068376" "0" "90" "14" "103465975" "103465975" "subst" "0" "00006" "CDC42BPB_000079" "g.103465975C>A" "" "{PMID:Chilton 2020:32031333}" "" "" "" "De novo" "" "" "0" "" "" "g.102999638C>A" "" "pathogenic (dominant)" "" "0001068377" "0" "90" "14" "103449905" "103449905" "subst" "0" "00006" "CDC42BPB_000078" "g.103449905G>C" "" "{PMID:Chilton 2020:32031333}" "" "" "" "De novo" "" "" "0" "" "" "g.102983568G>C" "" "pathogenic (dominant)" "" "0001068378" "0" "90" "14" "103430966" "103430966" "subst" "0" "00006" "CDC42BPB_000076" "g.103430966G>A" "" "{PMID:Chilton 2020:32031333}" "" "" "" "De novo" "" "" "0" "" "" "g.102964629G>A" "" "pathogenic (dominant)" "" "0001068379" "0" "90" "14" "103430966" "103430966" "subst" "0" "00006" "CDC42BPB_000076" "g.103430966G>A" "" "{PMID:Chilton 2020:32031333}" "" "" "" "De novo" "" "" "0" "" "" "g.102964629G>A" "" "pathogenic (dominant)" "" "0001068380" "0" "90" "14" "103430953" "103430953" "subst" "0" "00006" "CDC42BPB_000075" "g.103430953A>G" "" "{PMID:Chilton 2020:32031333}" "" "" "" "De novo" "" "" "0" "" "" "g.102964616A>G" "" "pathogenic (dominant)" "" "0001068381" "0" "90" "14" "103430938" "103430938" "subst" "0" "00006" "CDC42BPB_000073" "g.103430938C>G" "" "{PMID:Chilton 2020:32031333}" "" "" "" "De novo" "" "" "0" "" "" "g.102964601C>G" "" "pathogenic (dominant)" "" "0001068382" "0" "90" "14" "103430939" "103430939" "subst" "0" "00006" "CDC42BPB_000074" "g.103430939G>A" "" "{PMID:Chilton 2020:32031333}" "" "" "" "De novo" "" "" "0" "" "" "g.102964602G>A" "" "pathogenic (dominant)" "" "0001068383" "0" "90" "14" "103430939" "103430939" "subst" "0" "00006" "CDC42BPB_000074" "g.103430939G>A" "" "{PMID:Chilton 2020:32031333}" "" "" "" "De novo" "" "" "0" "" "" "g.102964602G>A" "" "pathogenic (dominant)" "" "0001068384" "0" "90" "14" "103410740" "103410740" "subst" "0" "00006" "CDC42BPB_000072" "g.103410740C>T" "" "{PMID:Chilton 2020:32031333}" "" "" "" "De novo" "" "" "0" "" "" "g.102944403C>T" "" "pathogenic (dominant)" "" "0001068385" "0" "90" "14" "103410587" "103410587" "subst" "0" "00006" "CDC42BPB_000071" "g.103410587C>T" "" "{PMID:Chilton 2020:32031333}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102944250C>T" "" "pathogenic (dominant)" "" "0001068386" "0" "90" "14" "103523462" "103523475" "del" "0" "00006" "CDC42BPB_000081" "g.103523462_103523475del" "" "{PMID:Chilton 2020:32031333}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.103057125_103057138del" "" "pathogenic (dominant)" "" "0001068387" "0" "90" "14" "1034403645" "1034403645" "dup" "0" "00006" "CDC42BPB_000082" "g.1034403645dup" "" "{PMID:Chilton 2020:32031333}" "" "1630dupG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102974028dup" "" "pathogenic (dominant)" "" "0001068388" "0" "90" "14" "103434646" "103434646" "subst" "0" "00006" "CDC42BPB_000077" "g.103434646G>A" "" "{PMID:Chilton 2020:32031333}" "" "" "" "De novo" "" "" "0" "" "" "g.102968309G>A" "" "pathogenic (dominant)" "" "0001068392" "3" "70" "14" "103435037" "103435037" "subst" "0.000654344" "00006" "CDC42BPB_000070" "g.103435037C>T" "" "{PMID:Luo 2020:32043305}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102968700C>T" "" "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 CDC42BPB ## Count = 107 "{{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}}" "0000272891" "00004789" "30" "1575" "0" "1575" "0" "c.1575G>A" "r.(?)" "p.(Thr525=)" "" "0000272892" "00004789" "50" "1709" "0" "1709" "0" "c.1709G>A" "r.(?)" "p.(Arg570Gln)" "" "0000272893" "00004789" "30" "2949" "0" "2949" "0" "c.2949G>A" "r.(?)" "p.(Ala983=)" "" "0000323862" "00004789" "50" "8448" "0" "8448" "0" "c.*3312G>A" "r.(=)" "p.(=)" "" "0000340798" "00004789" "50" "10089" "0" "10089" "0" "c.*4953G>T" "r.(=)" "p.(=)" "" "0000551288" "00004789" "30" "10030" "0" "10030" "0" "c.*4894C>A" "r.(=)" "p.(=)" "" "0000551289" "00004789" "30" "8567" "0" "8567" "0" "c.*3431C>T" "r.(=)" "p.(=)" "" "0000679878" "00004789" "30" "8523" "0" "8523" "0" "c.*3387G>T" "r.(=)" "p.(=)" "" "0000691576" "00004789" "30" "10432" "0" "10432" "0" "c.*5296A>G" "r.(=)" "p.(=)" "" "0000691577" "00004789" "50" "8593" "0" "8593" "0" "c.*3457G>T" "r.(=)" "p.(=)" "" "0000724626" "00004789" "30" "8448" "0" "8448" "0" "c.*3312G>A" "r.(=)" "p.(=)" "" "0000724627" "00004789" "50" "8220" "0" "8220" "0" "c.*3084C>T" "r.(=)" "p.(=)" "" "0000734804" "00004789" "30" "5947" "0" "5947" "0" "c.*811G>C" "r.(=)" "p.(=)" "" "0000734805" "00004789" "30" "5947" "0" "5947" "0" "c.*811G>C" "r.(=)" "p.(=)" "" "0000806254" "00004789" "30" "10041" "0" "10041" "0" "c.*4905C>T" "r.(=)" "p.(=)" "" "0000806255" "00004789" "30" "9099" "0" "9099" "0" "c.*3963C>T" "r.(=)" "p.(=)" "" "0000806256" "00004789" "50" "4723" "0" "4723" "0" "c.4723G>C" "r.(?)" "p.(Asp1575His)" "" "0000806257" "00004789" "50" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(His140Tyr)" "" "0000853712" "00004789" "30" "10438" "0" "10438" "0" "c.*5302G>A" "r.(=)" "p.(=)" "" "0000853713" "00004789" "50" "4972" "0" "4972" "0" "c.4972A>T" "r.(?)" "p.(Met1658Leu)" "" "0000853714" "00004789" "50" "4394" "0" "4394" "0" "c.4394C>T" "r.(?)" "p.(Ala1465Val)" "" "0000853715" "00004789" "50" "2636" "0" "2636" "0" "c.2636T>C" "r.(?)" "p.(Leu879Pro)" "" "0000863431" "00004789" "90" "8596" "0" "8603" "0" "c.*3460_*3467dup" "r.(=)" "p.(=)" "" "0000891640" "00004789" "30" "10062" "0" "10062" "0" "c.*4926G>A" "r.(=)" "p.(=)" "" "0000891641" "00004789" "10" "9761" "0" "9761" "0" "c.*4625C>G" "r.(=)" "p.(=)" "" "0000891642" "00004789" "30" "8249" "0" "8249" "0" "c.*3113C>G" "r.(=)" "p.(=)" "" "0000891643" "00004789" "30" "4409" "-5" "4409" "-5" "c.4409-5G>A" "r.spl?" "p.?" "" "0000891644" "00004789" "50" "2921" "0" "2921" "0" "c.2921A>C" "r.(?)" "p.(Gln974Pro)" "" "0000891645" "00004789" "70" "2240" "1" "2240" "1" "c.2240+1G>A" "r.spl?" "p.?" "" "0000891646" "00004789" "50" "1664" "0" "1664" "0" "c.1664G>A" "r.(?)" "p.(Arg555Gln)" "" "0000904888" "00004789" "70" "3941" "0" "3941" "0" "c.3941del" "r.(?)" "p.(Ala1314GlyfsTer35)" "" "0000914136" "00004789" "30" "10099" "0" "10099" "0" "c.*4963G>A" "r.(=)" "p.(=)" "" "0000914137" "00004789" "30" "9686" "0" "9686" "0" "c.*4550G>A" "r.(=)" "p.(=)" "" "0000925831" "00004789" "30" "9100" "0" "9100" "0" "c.*3964G>A" "r.(=)" "p.(=)" "" "0000925832" "00004789" "50" "2653" "0" "2653" "0" "c.2653G>A" "r.(?)" "p.(Ala885Thr)" "" "0000925833" "00004789" "50" "2346" "4" "2346" "4" "c.2346+4A>G" "r.spl?" "p.?" "" "0000930262" "00004789" "30" "3506" "0" "3506" "0" "c.3506G>A" "r.(?)" "p.(Arg1169His)" "" "0000930263" "00004789" "30" "3005" "0" "3005" "0" "c.3005C>T" "r.(?)" "p.(Pro1002Leu)" "" "0000930264" "00004789" "50" "323" "0" "323" "0" "c.323A>G" "r.(?)" "p.(Asn108Ser)" "" "0000950199" "00004789" "50" "3554" "0" "3554" "0" "c.3554C>T" "r.(?)" "p.(Ala1185Val)" "" "0000960270" "00004789" "70" "2726" "1" "2726" "1" "c.2726+1G>A" "r.spl" "p.?" "" "0000967388" "00004789" "70" "8261" "0" "8277" "0" "c.*3125_*3141del" "r.(=)" "p.(=)" "" "0000980751" "00004789" "30" "3748" "8" "3748" "8" "c.3748+8C>G" "r.(=)" "p.(=)" "" "0000980752" "00004789" "50" "1681" "0" "1681" "0" "c.1681A>G" "r.(?)" "p.(Lys561Glu)" "" "0000980753" "00004789" "30" "597" "-1212" "597" "-1209" "c.597-1212_597-1209dup" "r.(=)" "p.(=)" "" "0001000686" "00004789" "30" "9181" "0" "9181" "0" "c.*4045A>G" "r.(=)" "p.(=)" "" "0001000687" "00004789" "30" "5083" "0" "5083" "0" "c.5083C>A" "r.(?)" "p.(His1695Asn)" "" "0001000688" "00004789" "30" "4828" "-3" "4828" "-3" "c.4828-3C>T" "r.spl?" "p.?" "" "0001000689" "00004789" "30" "4807" "0" "4807" "0" "c.4807G>T" "r.(?)" "p.(Val1603Leu)" "" "0001000690" "00004789" "30" "4547" "0" "4547" "0" "c.4547A>G" "r.(?)" "p.(Asn1516Ser)" "" "0001000691" "00004789" "30" "4504" "0" "4504" "0" "c.4504A>G" "r.(?)" "p.(Arg1502Gly)" "" "0001000692" "00004789" "30" "4172" "0" "4172" "0" "c.4172C>T" "r.(?)" "p.(Pro1391Leu)" "" "0001000693" "00004789" "30" "4010" "0" "4010" "0" "c.4010A>G" "r.(?)" "p.(Lys1337Arg)" "" "0001000694" "00004789" "50" "3742" "0" "3742" "0" "c.3742A>G" "r.(?)" "p.(Ile1248Val)" "" "0001000695" "00004789" "50" "3506" "0" "3506" "0" "c.3506G>A" "r.(?)" "p.(Arg1169His)" "" "0001000696" "00004789" "50" "3310" "0" "3310" "0" "c.3310G>A" "r.(?)" "p.(Val1104Ile)" "" "0001000697" "00004789" "30" "3229" "0" "3229" "0" "c.3229A>G" "r.(?)" "p.(Ile1077Val)" "" "0001000698" "00004789" "30" "2929" "0" "2929" "0" "c.2929C>A" "r.(?)" "p.(Gln977Lys)" "" "0001000699" "00004789" "30" "2906" "0" "2906" "0" "c.2906G>C" "r.(?)" "p.(Ser969Thr)" "" "0001000700" "00004789" "70" "1768" "0" "1768" "0" "c.1768del" "r.(?)" "p.(Gln590Argfs*77)" "" "0001000701" "00004789" "50" "1636" "0" "1636" "0" "c.1636C>T" "r.(?)" "p.(His546Tyr)" "" "0001000702" "00004789" "30" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Trp)" "" "0001000703" "00004789" "50" "1052" "0" "1052" "0" "c.1052G>A" "r.(?)" "p.(Arg351Gln)" "" "0001000704" "00004789" "50" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Val210Met)" "" "0001000705" "00004789" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Ala119Thr)" "" "0001000706" "00004789" "50" "227" "0" "228" "0" "c.227_228del" "r.(?)" "p.(Phe76*)" "" "0001000707" "00004789" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ser2Leu)" "" "0001017849" "00004789" "70" "1456" "0" "1459" "0" "c.1456_1459del" "r.(?)" "p.(Glu486SerfsTer4)" "" "0001026351" "00004789" "50" "4402" "0" "4402" "0" "c.4402G>A" "r.(?)" "p.(Ala1468Thr)" "" "0001026352" "00004789" "50" "3262" "0" "3262" "0" "c.3262G>A" "r.(?)" "p.(Val1088Met)" "" "0001039782" "00004789" "30" "3449" "190" "3449" "190" "c.3449+190A>G" "r.(=)" "p.(=)" "" "0001039783" "00004789" "30" "2921" "0" "2921" "0" "c.2921A>C" "r.(?)" "p.(Gln974Pro)" "" "0001039784" "00004789" "30" "2471" "9" "2471" "9" "c.2471+9G>A" "r.(=)" "p.(=)" "" "0001039785" "00004789" "30" "1800" "0" "1800" "0" "c.1800C>A" "r.(?)" "p.(Asp600Glu)" "" "0001039786" "00004789" "50" "629" "0" "629" "0" "c.629T>A" "r.(?)" "p.(Val210Glu)" "" "0001039787" "00004789" "30" "352" "-336" "352" "-336" "c.352-336G>A" "r.(=)" "p.(=)" "" "0001039788" "00004789" "30" "176" "-9039" "176" "-9039" "c.176-9039C>T" "r.(=)" "p.(=)" "" "0001039789" "00004789" "30" "176" "-18634" "176" "-18634" "c.176-18634T>C" "r.(=)" "p.(=)" "" "0001054980" "00004789" "50" "8529" "0" "8529" "0" "c.*3393C>A" "r.(=)" "p.(=)" "" "0001054981" "00004789" "50" "4931" "0" "4931" "0" "c.4931C>T" "r.(?)" "p.(Ser1644Leu)" "" "0001054982" "00004789" "30" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Glu1433Lys)" "" "0001054983" "00004789" "50" "3769" "0" "3769" "0" "c.3769G>A" "r.(?)" "p.(Gly1257Ser)" "" "0001054984" "00004789" "30" "3066" "6" "3066" "6" "c.3066+6G>T" "r.(=)" "p.(=)" "" "0001054985" "00004789" "30" "2346" "324" "2346" "324" "c.2346+324T>A" "r.(=)" "p.(=)" "" "0001054986" "00004789" "90" "1456" "0" "1459" "0" "c.1456_1459del" "r.(?)" "p.(Glu486Serfs*4)" "" "0001066141" "00004789" "50" "2923" "0" "2923" "0" "c.2923G>C" "r.(?)" "p.(Glu975Gln)" "" "0001066142" "00004789" "50" "2241" "-3" "2241" "-3" "c.2241-3C>A" "r.spl?" "p.?" "" "0001066143" "00004789" "50" "1918" "0" "1918" "0" "c.1918G>A" "r.(?)" "p.(Ala640Thr)" "" "0001066144" "00004789" "50" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Pro385Ser)" "" "0001066145" "00004789" "30" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(=)" "" "0001066146" "00004789" "50" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Trp110Arg)" "" "0001068254" "00004789" "50" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Leu286Phe)" "7" "0001068375" "00004789" "90" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Ala142Thr)" "" "0001068376" "00004789" "90" "523" "0" "523" "0" "c.523G>T" "r.(?)" "p.(Asp175Tyr)" "" "0001068377" "00004789" "90" "879" "0" "879" "0" "c.879C>G" "r.(?)" "p.(Ile293Met)" "" "0001068378" "00004789" "90" "2599" "0" "2599" "0" "c.2599C>T" "r.(?)" "p.(Arg867Cys)" "" "0001068379" "00004789" "90" "2599" "0" "2599" "0" "c.2599C>T" "r.(?)" "p.(Arg867Cys)" "" "0001068380" "00004789" "90" "2612" "0" "2612" "0" "c.2612T>C" "r.(?)" "p.(Leu871Pro)" "" "0001068381" "00004789" "90" "2627" "0" "2627" "0" "c.2627G>C" "r.(?)" "p.(Arg876Pro)" "" "0001068382" "00004789" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Arg876Trp)" "" "0001068383" "00004789" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Arg876Trp)" "" "0001068384" "00004789" "90" "3896" "0" "3896" "0" "c.3896G>A" "r.(?)" "p.(Arg1299Gln)" "" "0001068385" "00004789" "90" "4049" "0" "4049" "0" "c.4049G>A" "r.(?)" "p.(Arg1350Gln)" "" "0001068386" "00004789" "90" "37" "0" "50" "0" "c.37_50del" "r.(?)" "p.(Leu13AlafsTer43)" "" "0001068387" "00004789" "90" "1630" "0" "1630" "0" "c.1630dupG" "r.(?)" "p.(Glu544GlyfsTer8)" "" "0001068388" "00004789" "90" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Arg764Ter)" "" "0001068392" "00004789" "70" "2012" "0" "2012" "0" "c.2012G>A" "r.(?)" "p.(Arg671Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000335892" "0000734804" "0000335893" "0000734805" "0000427511" "0000904888" "0000449787" "0000960270" "0000474100" "0001068254" "0000474146" "0001068375" "0000474147" "0001068376" "0000474148" "0001068377" "0000474149" "0001068378" "0000474150" "0001068379" "0000474151" "0001068380" "0000474152" "0001068381" "0000474153" "0001068382" "0000474154" "0001068383" "0000474155" "0001068384" "0000474156" "0001068385" "0000474157" "0001068386" "0000474158" "0001068387" "0000474159" "0001068388" "0000474160" "0001068392"