### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WDR83OS) # 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}}" "WDR83OS" "WD repeat domain 83 opposite strand" "19" "p13.2" "unknown" "NC_000019.9" "UD_136017589449" "" "https://www.LOVD.nl/WDR83OS" "" "1" "30203" "51398" "618474" "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/WDR83OS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-11-02 19:05:55" "00006" "2025-08-29 19:47:46" ## 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}}" "00022797" "WDR83OS" "WD repeat domain 83 opposite strand" "001" "NM_016145.3" "" "NP_057229.1" "" "" "" "-248" "613" "321" "12780465" "12778881" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00408490" "" "" "" "1" "" "00006" "{PMID:Rahimi 2022:35358416}, {PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "Morocco" "Pat8;Fam3PatII2" "00457253" "" "" "" "1" "" "00006" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "United States" "" "0" "" "" "Turkey" "BAB11420" "00457254" "" "" "" "3" "" "00006" "{PMID:Maddirevula 2019:30250217}, {PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam7PatIV1;Fam2PatII1" "00457255" "" "" "00457254" "1" "" "00006" "{PMID:Maddirevula 2019:30250217}, {PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam7PatIV2;Fam2PatII2" "00457256" "" "" "00457254" "1" "" "00006" "{PMID:Maddirevula 2019:30250217}, {PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam7PatIV6;Fam2PatII6" "00457258" "" "" "" "1" "" "00006" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "Ethiopia" "" "0" "" "" "" "Fam4PatII1" "00457259" "" "" "" "1" "" "00006" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "Eritrea" "" "0" "" "" "" "Fam5PatII2" "00457260" "" "" "" "1" "" "00006" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam6PatII2" "00457261" "" "" "" "1" "" "00006" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam7PatII2" "00457262" "" "" "" "3" "" "00006" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "2-generation family, 3 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam8PatII1" "00457263" "" "" "00457262" "1" "" "00006" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam8PatII2" "00457264" "" "" "00457262" "1" "" "00006" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam8PatII3" "00457265" "" "" "" "2" "" "00006" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "2-generation family, 2 affected(sister/brother), unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam9PatII1" "00457266" "" "" "00457265" "1" "" "00006" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam9PatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00408490" "05611" "00457253" "05611" "00457254" "05611" "00457255" "05611" "00457256" "05611" "00457258" "05611" "00457259" "05611" "00457260" "05611" "00457261" "05611" "00457262" "05611" "00457263" "05611" "00457264" "05611" "00457265" "05611" "00457266" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 14 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000300607" "05611" "00408490" "00006" "Isolated (sporadic)" "03y" "see paper; ..., no prenatal issues, birth 39w, SVD, weight 3100 g (18%), height 47 cm (6%), OFC 33 cm (5%); 12m-sit; >26m-walk; 26m-single words; global developmental delay; no hypotelorism, no hypertelorism; no strabismus; no ptosis; no prominent philtrum; no thin upper lip; no tented mouth; everted lower lip; no micro-/retro-/pro-gnathia; no open mouth; 1st fingers shortening, hypertrichosis, premature thelarche, low hairline, bilateral epicanthus, long eyelashes, bulbous nose, hat-shaped mouth, ogival palate, short neck, low implanted thumbs, deep palmar crease, clinodactyly of 5th fingers, overlapping of the toes, hirsutism on the back, limbs, and toes; intellectual disability; hypotonia; hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; MRI brain normal; ultrasound liver dysmorphic hepatomegaly with increased elasticity measurements (mean velocity 1.3m/s), hepatic hilar lymph nodes swelling, with slight effusion recto-uterine pouch" "" "" "" "" "" "" "MRD66" "neurodevelopmental delay" "0000345746" "05611" "00457253" "00006" "Familial, autosomal recessive" "3y6m" "see paper; ..., no prenatal issues, birth 38w, C-section, weight 2750 g (10%), height 48cm (21%), OFC 34cm (20%); 2y-sit; 4y-walk; 5y-single words; global developmental delay; normal eyebrows; hypotelorism; normal palpebral fissures; strabismus; ptosis; prominent philtrum; thin upper lip; no tented mouth; micrognathia; Synophrys; intellectual disability; hypotonia; weak motor strength; normal reflexes; seizures; hepatomegaly; liver dysfunction; intractable itching (pruritus); mild recurrent pancreatitis; feeding difficulty; gastresophageal reflux; steatorrhea; chronic diarrhea; gallstones; no gastrostomy tube; no undescended testicles; mild pelviectasis; recurrent respiratory infections; no recurrent skin infections; MRI brain normal" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000345747" "05611" "00457254" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., birth 42w, C-section, weight 1640 g (-3.4 SD), height 43 cm (-2.9 SD), OFC 31 cm (2.6 SD); no neonatal jaundice; global developmental delay; normal eyebrows; hypotelorism; normal palpebral fissures; no strabismus; no ptosis; prominent philtrum; thin upper lip; no tented mouth; everted lower lip; prognathia; open mouth; post axial polydactyly, periauricular skin tag, gum/alveolar hypertrophy, high arched palate, single palm crease; intellectual disability; hypotonia; mild hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; no gallstones;" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000345748" "05611" "00457255" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., birth 42w, SVD, weight 2720 g (9%), height 48 cm (21%), OFC 35.5 cm (43%); no neonatal jaundice; 4y-walk; global developmental delay; normal eyebrows; hypotelorism; downslanting palpebral fissures; ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; prognathia; open mouth; gum/alveolar hypertophy, high arched palate, single palm crease; intellectual disability; mild hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; gallstones; undescended testicles; MRI brain normal" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000345749" "05611" "00457256" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., birth 40w, SVD, weight 2725 g (9%), height 49 cm (42%), OFC 31 cm (-3 SD); no neonatal jaundice; 3y-walk; 2y-single words; global developmental delay; arched eyebrows; hypotelorism; prominent philtrum; no thin upper lip; everted lower lip; prognathia; open mouth; frontal bossing, long eyelashes, large mouth, sagged cheeks; intellectual disability; mild hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; no gallstones;" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000345751" "05611" "00457258" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., gestational maternal diabetes, birth 41w, C-section, weight 3315 g (25%), height 52 cm (62%); no neonatal jaundice; 2y-sit; 32m-walk; 2y-two words; global developmental delay; thick eyebrows; no hypotelorism, no hypertelorism; upslanting palpebral fissures; no strabismus; no ptosis; no thin upper lip; tented mouth; everted lower lip; micrognathia; open mouth; Bilateral epicanthal folds, long lashes, depressed nasal bridge, bifid, short and wide columella, prominent fetal pads, 5th finger, bilateral clinodactyly, prominent heels; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; hand twisting; no seizures; no hepatomegaly; no liver dysfunction; intractable itching (pruritus); no recurrent pancreatitis; feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no undescended testicles; no recurrent respiratory infections; no recurrent skin infections;" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000345752" "05611" "00457259" "00006" "Familial, autosomal recessive" "2y6m" "see paper; ..., no prenatal issues, birth 41w+5, labor induction, vaginal delivery, weight 4675 g (+2.3 SD), height 55 cm (96%), 38 cm (94%); no neonatal jaundice; 2y-sit; not yet walking; no speech; global developmental delay; no hypotelorism, no hypertelorism; normal palpebral fissures; no strabismus; ptosis; prominent philtrum; no thin upper lip; tented mouth; no everted lower lip; no micro-/retro-/pro-gnathia; Broad forehead, broad nasal bridge/tip, hypermobility; intellectual disability; hypotonia; weak motor strength; normal reflexes; no movement abnormalities; weak social interaction, autistic features; no seizures; increased echo on liver ultrasound; no liver dysfunction; intractable itching (pruritus); no recurrent pancreatitis; feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea, chronic obstipation; gallstones; no gastrostomy tube; MRI brain ventricular system mildly marked, otherwise nothing pathological; beta-thalassemia minor, F-Calpotectin 121" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000345753" "05611" "00457260" "00006" "Familial, autosomal recessive" "2y2m" "see paper; ..., no prenatal issues, birth 40w, SVD, weight 3200 g (20%), height 52 cm (67.31%), OFC 36 cm (75%); neonatal jaundice; 18m-sit; not yet walking; no speech; moderate global developmental delay; arched eyebrows; hypotelorism; abnormal palpebral fissures; strabismus; no ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; micrognathia; open mouth; Bilateral epicanthus, high arch palate, tongue tie, metopic craniosynostosis, small teeth, contracture of fingers; intellectual disability; mild hypotonia; mild motor strength; no movement abnormalities; mild autistic behaviors; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; undescended testicles; no recurrent respiratory infections; no recurrent skin infections; MRI brain mild right ventriculomegaly prominent sylvian fissure;" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000345754" "05611" "00457261" "00006" "Familial, autosomal recessive" "1y5m" "see paper; ..., no prenatal issues, birth 40w, SVD, weight 3550 g (75%), height 50 cm (28.85%), OFC 35 cm (44.44%); neonatal jaundice improved without phototherapy; never sat; never walked; no speech; poor eye contact and communication, non-verbal; arched eyebrows, thick eyebrows; hypertelorism; abnormal palpebral fissures; strabismus; ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; retrognathia; open mouth; Synophrys, single palmar crease; intellectual disability; hypotonia; weak motor strength; autistic behavior, self injurious behavior, bruxism; myoclonic seizures; no hepatomegaly; no liver dysfunction; intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no undescended testicles; no recurrent respiratory infections; no recurrent skin infections; MRI brain delayed myelination, mild wide extra axial spacer;" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000345755" "05611" "00457262" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., no neonatal issues, birth 40w, SVD, weight 2500 g (-2 SD); no neonatal jaundice; 18m-sit; 2y-walk; 3y-single words; normal eyebrows; hypertelorism; deep set eyes; no strabismus; no ptosis; no prominent philtrum; no thin upper lip; no tented mouth; no everted lower lip; pointed chin; no open mouth; Triangular face, hypopigmented paches on external genitalia, lumbosacral dimple, butterfly vertebra at T11; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; some repetative movements, ADHD; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; MRI brain normal; normal echo" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000345756" "05611" "00457263" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., 1d-skeletal deformity, birth 40w, SVD, weight 1600 g (-3.7 SD); no neonatal jaundice; >10y-sit; not yet walking; 5y-single words; marked global developmental delay; eyebrows with synophrys; hypertelorism; deep set eyes; no strabismus; no ptosis; long philtrum; no thin upper lip; no tented mouth; no everted lower lip; pointed chin; no open mouth; Triangular face, absent radii with hand deformity, hemivertebrae, camptodactyly of both hands, dorsiflexed big toes bilateraly and single kidney; intellectual disability; central hypotonia, appendicular hypertonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; ADHD; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no undescended testicles; single kidney, grade 2 vesicoureteral reflux; no recurrent respiratory infections; no recurrent skin infections; MRI brain normal; ultrasound liver normal;" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000345757" "05611" "00457264" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., no prenatal issues, birth 37w, SVD, weight 2880 g (10%); no neonatal jaundice; 3y-sit; not yet walking; 3y-single words; normal eyebrows; no hypotelorism, no hypertelorism; normal palpebral fissures; no strabismus; no ptosis; no prominent philtrum; no thin upper lip; no tented mouth; no everted lower lip; no micro-/retro-/pro-gnathia; no open mouth; subtle dysmorphic features; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no recurrent respiratory infections; no recurrent skin infections;" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000345758" "05611" "00457265" "00006" "Familial, autosomal recessive" "1y9m" "see paper; ..., diabetic mother, no postnatal complication of diabetes , birth 38w, C-section, weight 3000 g (14%), height 34 cm (18%), OFC 55 cm (96%); no neonatal jaundice; never sat; never walked; 21m-two words; global developmental delay; arched eyebrows; hypertelorism; normal palpebral fissures; no strabismus; no ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; no micro-/retro-/pro-gnathia; open mouth; frontal bossing, high arched palate; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal reflexes; dystonia, back arching; no seizures; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; feeding difficulty; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no recurrent respiratory infections; no recurrent skin infections; MRI brain persistent benign enlargement of subarachnoid spaces in infancy, paucity of occipital white matter and squaring of occipital horns of lateral ventricles (sequelae of PVL);" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000345759" "05611" "00457266" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., global developmental delay; arched eyebrows, thick eyebrows; no hypotelorism, no hypertelorism; normal palpebral fissures; no strabismus; no ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; no micro-/retro-/pro-gnathia; open mouth; socliosis, everted feet, frontal bossing, high arched palate; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; hyperreflexia with clonus; no movement abnormalities; self injurious behaviour, nervousness; no seizures; no hepatomegaly; liver dysfunction, elevated liver enzymes; intractable itching (pruritus); no recurrent pancreatitis; feeding difficulty; gastresophageal reflux; no steatorrhea; chronic diarrhea; gallstones; no gastrostomy tube; no undescended testicles; no recurrent respiratory infections; no recurrent skin infections; MRI brain normal; ultrasound liver normal;" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000409749" "00408490" "1" "00006" "00006" "2022-04-21 21:44:36" "" "" "SEQ-NG" "DNA" "" "" "0000458872" "00457253" "1" "00006" "00006" "2024-11-04 09:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000458873" "00457254" "1" "00006" "00006" "2024-11-04 09:10:12" "00006" "2024-11-04 09:21:44" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000458874" "00457255" "1" "00006" "00006" "2024-11-04 09:10:12" "00006" "2024-11-04 09:20:59" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000458875" "00457256" "1" "00006" "00006" "2024-11-04 09:10:12" "00006" "2024-11-04 09:19:33" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000458877" "00457258" "1" "00006" "00006" "2024-11-04 09:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000458878" "00457259" "1" "00006" "00006" "2024-11-04 09:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000458879" "00457260" "1" "00006" "00006" "2024-11-04 09:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000458880" "00457261" "1" "00006" "00006" "2024-11-04 09:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000458881" "00457262" "1" "00006" "00006" "2024-11-04 09:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000458882" "00457263" "1" "00006" "00006" "2024-11-04 09:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000458883" "00457264" "1" "00006" "00006" "2024-11-04 09:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000458884" "00457265" "1" "00006" "00006" "2024-11-04 09:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000458885" "00457266" "1" "00006" "00006" "2024-11-04 09:10:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 53 "{{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}}" "0000252456" "0" "70" "19" "12776515" "12776515" "subst" "0" "02326" "MAN2B1_000047" "g.12776515A>C" "" "" "" "MAN2B1(NM_000528.4):c.262+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12665701A>C" "" "likely pathogenic" "" "0000279564" "0" "90" "19" "12776548" "12776548" "subst" "0" "02330" "MAN2B1_000048" "g.12776548C>T" "" "" "" "MAN2B1(NM_000528.4):c.231G>A (p.W77*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12665734C>T" "" "pathogenic" "" "0000279569" "0" "10" "19" "12775617" "12775617" "subst" "0" "02330" "MAN2B1_000045" "g.12775617G>A" "" "" "" "MAN2B1(NM_000528.4):c.619C>T (p.L207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12664803G>A" "" "benign" "" "0000279570" "0" "10" "19" "12774532" "12774532" "subst" "0.00122562" "02330" "MAN2B1_000044" "g.12774532C>A" "" "" "" "MAN2B1(NM_000528.4):c.748G>T (p.A250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663718C>A" "" "benign" "" "0000279571" "0" "10" "19" "12774208" "12774208" "subst" "0.250847" "02330" "MAN2B1_000073" "g.12774208G>C" "" "" "" "MAN2B1(NM_000528.4):c.832C>G (p.L278V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663394G>C" "" "benign" "" "0000282368" "0" "10" "19" "12774208" "12774208" "subst" "0.250847" "02325" "MAN2B1_000073" "g.12774208G>C" "" "" "" "MAN2B1(NM_000528.4):c.832C>G (p.L278V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663394G>C" "" "benign" "" "0000291424" "0" "50" "19" "12776226" "12776226" "subst" "1.63179E-5" "01943" "MAN2B1_000046" "g.12776226G>A" "" "" "" "MAN2B1(NM_000528.3):c.376C>T (p.R126C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12665412G>A" "" "VUS" "" "0000291425" "0" "30" "19" "12774196" "12774196" "subst" "0.00258264" "01943" "MAN2B1_000072" "g.12774196G>A" "" "" "" "MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663382G>A" "" "likely benign" "" "0000326219" "0" "30" "19" "12774196" "12774196" "subst" "0.00258264" "01804" "MAN2B1_000072" "g.12774196G>A" "" "" "" "MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663382G>A" "" "likely benign" "" "0000566117" "0" "10" "19" "12774533" "12774533" "subst" "0.0128581" "02330" "DHPS_000005" "g.12774533G>A" "" "" "" "MAN2B1(NM_000528.4):c.747C>T (p.T249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12663719G>A" "" "benign" "" "0000566118" "0" "30" "19" "12774537" "12774537" "subst" "0.00230696" "01943" "DHPS_000006" "g.12774537G>A" "" "" "" "MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12663723G>A" "" "likely benign" "" "0000566119" "0" "30" "19" "12775684" "12775684" "subst" "1.22195E-5" "01943" "DHPS_000007" "g.12775684G>T" "" "" "" "MAN2B1(NM_000528.3):c.552C>A (p.G184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12664870G>T" "" "likely benign" "" "0000658489" "0" "30" "19" "12790506" "12790506" "subst" "0.00926648" "01804" "DHPS_000009" "g.12790506C>G" "" "" "" "DHPS(NM_001206974.1):c.396G>C (p.(Glu132Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12679692C>G" "" "likely benign" "" "0000692689" "0" "50" "19" "12786964" "12786982" "del" "0" "01943" "DHPS_000011" "g.12786964_12786982del" "" "" "" "DHPS(NM_001930.4):c.889-21_889-3delCGTGCCCCCGCCTCCCCAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727128" "0" "90" "19" "12777451" "12777451" "subst" "1.36282E-5" "01943" "DHPS_000012" "g.12777451C>T" "" "" "" "MAN2B1(NM_000528.3):c.65G>A (p.W22*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727129" "0" "30" "19" "12777497" "12777497" "subst" "0.000132772" "01943" "DHPS_000013" "g.12777497C>G" "" "" "" "MAN2B1(NM_000528.3):c.19G>C (p.A7P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727130" "0" "50" "19" "12791136" "12791136" "subst" "0.000195098" "02325" "DHPS_000014" "g.12791136C>T" "" "" "" "DHPS(NM_001930.4):c.211G>A (p.E71K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808675" "0" "50" "19" "12774217" "12774217" "subst" "2.84255E-5" "02325" "DHPS_000015" "g.12774217C>T" "" "" "" "MAN2B1(NM_000528.4):c.823G>A (p.D275N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808676" "0" "30" "19" "12776626" "12776626" "subst" "4.07375E-6" "01943" "DHPS_000016" "g.12776626A>G" "" "" "" "MAN2B1(NM_000528.3):c.160-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808677" "0" "30" "19" "12777468" "12777468" "subst" "2.06942E-5" "01943" "DHPS_000017" "g.12777468C>T" "" "" "" "MAN2B1(NM_000528.3):c.48G>A (p.L16=), MAN2B1(NM_000528.4):c.48G>A (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808678" "0" "30" "19" "12786921" "12786921" "subst" "9.80881E-5" "01943" "DHPS_000018" "g.12786921T>C" "" "" "" "DHPS(NM_001930.4):c.924A>G (p.T308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865868" "0" "30" "19" "12774251" "12774251" "subst" "9.34526E-5" "01943" "DHPS_000019" "g.12774251C>T" "" "" "" "MAN2B1(NM_000528.3):c.789G>A (p.P263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865869" "0" "30" "19" "12774537" "12774537" "subst" "0.00230696" "01804" "DHPS_000006" "g.12774537G>A" "" "" "" "MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865870" "0" "50" "19" "12775781" "12775781" "subst" "0.000187237" "01804" "DHPS_000020" "g.12775781T>C" "" "" "" "MAN2B1(NM_000528.3):c.455A>G (p.(Asn152Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915128" "0" "30" "19" "12774536" "12774536" "subst" "8.26016E-5" "02326" "DHPS_000021" "g.12774536C>T" "" "" "" "MAN2B1(NM_000528.4):c.744G>A (p.P248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926810" "0" "30" "19" "12774196" "12774196" "subst" "0.00258264" "02326" "MAN2B1_000072" "g.12774196G>A" "" "" "" "MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926811" "0" "30" "19" "12774261" "12774261" "subst" "1.21921E-5" "02326" "DHPS_000022" "g.12774261C>A" "" "" "" "MAN2B1(NM_000528.4):c.779G>T (p.G260V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926812" "0" "30" "19" "12777468" "12777468" "subst" "2.06942E-5" "02326" "DHPS_000017" "g.12777468C>T" "" "" "" "MAN2B1(NM_000528.3):c.48G>A (p.L16=), MAN2B1(NM_000528.4):c.48G>A (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926813" "0" "30" "19" "12780204" "12780204" "subst" "0.0159673" "01804" "DHPS_000023" "g.12780204T>C" "" "" "" "WDR83OS(NM_016145.3):c.14A>G (p.(Asn5Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926814" "0" "50" "19" "12791136" "12791136" "subst" "0.000195098" "02327" "DHPS_000014" "g.12791136C>T" "" "" "" "DHPS(NM_001930.4):c.211G>A (p.E71K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930999" "0" "70" "19" "12776514" "12776514" "subst" "0" "02326" "DHPS_000024" "g.12776514C>G" "" "" "" "MAN2B1(NM_000528.4):c.262+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000969557" "0" "30" "19" "12774537" "12774537" "subst" "0.00230696" "02326" "DHPS_000006" "g.12774537G>A" "" "" "" "MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983203" "0" "30" "19" "12790971" "12790971" "subst" "0.000109761" "01804" "DHPS_000025" "g.12790971C>T" "" "" "" "DHPS(NM_001930.4):c.372+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004357" "0" "50" "19" "12774531" "12774531" "subst" "4.15856E-5" "01804" "DHPS_000027" "g.12774531G>A" "" "" "" "MAN2B1(NM_000528.3):c.749C>T (p.(Ala250Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016441" "3" "90" "19" "12779353" "12779353" "subst" "0" "00006" "WDR83OS_000006" "g.12779353G>A" "" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12668539G>A" "" "pathogenic (recessive)" "" "0001016442" "3" "90" "19" "12779941" "12779941" "subst" "0" "00006" "WDR83OS_000001" "g.12779941C>A" "" "{PMID:Maddirevula 2019:30250217}, {PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12669127C>A" "" "pathogenic (recessive)" "" "0001016443" "3" "90" "19" "12779941" "12779941" "subst" "0" "00006" "WDR83OS_000001" "g.12779941C>A" "" "{PMID:Maddirevula 2019:30250217}, {PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12669127C>A" "" "pathogenic (recessive)" "" "0001016444" "3" "90" "19" "12779941" "12779941" "subst" "0" "00006" "WDR83OS_000001" "g.12779941C>A" "" "{PMID:Maddirevula 2019:30250217}, {PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12669127C>A" "" "pathogenic (recessive)" "" "0001016445" "3" "90" "19" "12779239" "12779248" "del" "0" "00006" "WDR83OS_000002" "g.12779239_12779248del" "" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "255-4_260delTCAGGCTGTC" "" "Germline" "" "" "0" "" "" "g.12668425_12668434del" "" "pathogenic (recessive)" "" "0001016446" "3" "90" "19" "12779941" "12779941" "subst" "0" "00006" "WDR83OS_000001" "g.12779941C>A" "" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12669127C>A" "" "pathogenic (recessive)" "" "0001016447" "3" "90" "19" "12779941" "12779941" "subst" "0" "00006" "WDR83OS_000001" "g.12779941C>A" "" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12669127C>A" "" "pathogenic (recessive)" "" "0001016448" "3" "90" "19" "12779940" "12779940" "subst" "0" "00006" "WDR83OS_000003" "g.12779940A>T" "" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12669126A>T" "" "pathogenic (recessive)" "" "0001016449" "3" "90" "19" "12780167" "12780167" "subst" "0" "00006" "WDR83OS_000004" "g.12780167C>A" "" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12669353C>A" "" "pathogenic (recessive)" "" "0001016450" "3" "90" "19" "12779941" "12779941" "subst" "0" "00006" "WDR83OS_000001" "g.12779941C>A" "" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12669127C>A" "" "pathogenic (recessive)" "" "0001016451" "3" "90" "19" "12779941" "12779941" "subst" "0" "00006" "WDR83OS_000001" "g.12779941C>A" "" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12669127C>A" "" "pathogenic (recessive)" "" "0001016452" "3" "90" "19" "12779941" "12779941" "subst" "0" "00006" "WDR83OS_000001" "g.12779941C>A" "" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12669127C>A" "" "pathogenic (recessive)" "" "0001016453" "3" "90" "19" "12780028" "12780028" "subst" "0" "00006" "WDR83OS_000005" "g.12780028C>A" "" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12669214C>A" "" "pathogenic (recessive)" "" "0001016454" "3" "90" "19" "12780028" "12780028" "subst" "0" "00006" "WDR83OS_000005" "g.12780028C>A" "" "{PMID:Barish 2024:39471804}, {DOI:Barish 2024:10.1016/j.ajhg.2024.10.002}" "" "" "" "Germline" "" "" "0" "" "" "g.12669214C>A" "" "pathogenic (recessive)" "" "0001042614" "0" "10" "19" "12774561" "12774561" "subst" "0.000707651" "01804" "DHPS_000028" "g.12774561C>T" "" "" "" "MAN2B1(NM_000528.4):c.719G>A (p.(Arg240Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042615" "0" "50" "19" "12776600" "12776600" "subst" "2.03176E-5" "01804" "DHPS_000029" "g.12776600G>A" "" "" "" "MAN2B1(NM_000528.4):c.179C>T (p.(Pro60Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042616" "0" "50" "19" "12786623" "12786623" "subst" "2.78888E-5" "01804" "DHPS_000030" "g.12786623G>A" "" "" "" "DHPS(NM_001369691.1):c.1075C>T (p.(Pro359Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042617" "0" "30" "19" "12786879" "12786879" "subst" "8.13094E-6" "01804" "DHPS_000031" "g.12786879G>A" "" "" "" "DHPS(NM_001369691.1):c.902C>T (p.(Thr301Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042618" "0" "50" "19" "12791030" "12791030" "subst" "8.12117E-6" "01804" "DHPS_000032" "g.12791030T>C" "" "" "" "DHPS(NM_001930.4):c.317A>G (p.(Asn106Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes WDR83OS ## Count = 53 "{{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}}" "0000252456" "00022797" "70" "2979" "0" "2979" "0" "c.*2658T>G" "r.(=)" "p.(=)" "" "0000279564" "00022797" "90" "2946" "0" "2946" "0" "c.*2625G>A" "r.(=)" "p.(=)" "" "0000279569" "00022797" "10" "3877" "0" "3877" "0" "c.*3556C>T" "r.(=)" "p.(=)" "" "0000279570" "00022797" "10" "4962" "0" "4962" "0" "c.*4641G>T" "r.(=)" "p.(=)" "" "0000279571" "00022797" "10" "5286" "0" "5286" "0" "c.*4965C>G" "r.(=)" "p.(=)" "" "0000282368" "00022797" "10" "5286" "0" "5286" "0" "c.*4965C>G" "r.(=)" "p.(=)" "" "0000291424" "00022797" "50" "3268" "0" "3268" "0" "c.*2947C>T" "r.(=)" "p.(=)" "" "0000291425" "00022797" "30" "5298" "0" "5298" "0" "c.*4977C>T" "r.(=)" "p.(=)" "" "0000326219" "00022797" "30" "5298" "0" "5298" "0" "c.*4977C>T" "r.(=)" "p.(=)" "" "0000566117" "00022797" "10" "4961" "0" "4961" "0" "c.*4640C>T" "r.(=)" "p.(=)" "" "0000566118" "00022797" "30" "4957" "0" "4957" "0" "c.*4636C>T" "r.(=)" "p.(=)" "" "0000566119" "00022797" "30" "3810" "0" "3810" "0" "c.*3489C>A" "r.(=)" "p.(=)" "" "0000658489" "00022797" "30" "-10289" "0" "-10289" "0" "c.-10289G>C" "r.(?)" "p.(=)" "" "0000692689" "00022797" "50" "-6760" "0" "-6742" "0" "c.-6760_-6742del" "r.(?)" "p.(=)" "" "0000727128" "00022797" "90" "2043" "0" "2043" "0" "c.*1722G>A" "r.(=)" "p.(=)" "" "0000727129" "00022797" "30" "1997" "0" "1997" "0" "c.*1676G>C" "r.(=)" "p.(=)" "" "0000727130" "00022797" "50" "-10919" "0" "-10919" "0" "c.-10919G>A" "r.(?)" "p.(=)" "" "0000808675" "00022797" "50" "5277" "0" "5277" "0" "c.*4956G>A" "r.(=)" "p.(=)" "" "0000808676" "00022797" "30" "2868" "0" "2868" "0" "c.*2547T>C" "r.(=)" "p.(=)" "" "0000808677" "00022797" "30" "2026" "0" "2026" "0" "c.*1705G>A" "r.(=)" "p.(=)" "" "0000808678" "00022797" "30" "-6704" "0" "-6704" "0" "c.-6704A>G" "r.(?)" "p.(=)" "" "0000865868" "00022797" "30" "5243" "0" "5243" "0" "c.*4922G>A" "r.(=)" "p.(=)" "" "0000865869" "00022797" "30" "4957" "0" "4957" "0" "c.*4636C>T" "r.(=)" "p.(=)" "" "0000865870" "00022797" "50" "3713" "0" "3713" "0" "c.*3392A>G" "r.(=)" "p.(=)" "" "0000915128" "00022797" "30" "4958" "0" "4958" "0" "c.*4637G>A" "r.(=)" "p.(=)" "" "0000926810" "00022797" "30" "5298" "0" "5298" "0" "c.*4977C>T" "r.(=)" "p.(=)" "" "0000926811" "00022797" "30" "5233" "0" "5233" "0" "c.*4912G>T" "r.(=)" "p.(=)" "" "0000926812" "00022797" "30" "2026" "0" "2026" "0" "c.*1705G>A" "r.(=)" "p.(=)" "" "0000926813" "00022797" "30" "14" "0" "14" "0" "c.14A>G" "r.(?)" "p.(Asn5Ser)" "" "0000926814" "00022797" "50" "-10919" "0" "-10919" "0" "c.-10919G>A" "r.(?)" "p.(=)" "" "0000930999" "00022797" "70" "2980" "0" "2980" "0" "c.*2659G>C" "r.(=)" "p.(=)" "" "0000969557" "00022797" "30" "4957" "0" "4957" "0" "c.*4636C>T" "r.(=)" "p.(=)" "" "0000983203" "00022797" "30" "-10754" "0" "-10754" "0" "c.-10754G>A" "r.(?)" "p.(=)" "" "0001004357" "00022797" "50" "4963" "0" "4963" "0" "c.*4642C>T" "r.(=)" "p.(=)" "" "0001016441" "00022797" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Gln79Ter)" "" "0001016442" "00022797" "90" "156" "1" "156" "1" "c.156+1G>T" "r.51_156del" "p.Arg17SerfsTer2" "" "0001016443" "00022797" "90" "156" "1" "156" "1" "c.156+1G>T" "r.51_156del" "p.Arg17SerfsTer2" "" "0001016444" "00022797" "90" "156" "1" "156" "1" "c.156+1G>T" "r.51_156del" "p.Arg17SerfsTer2" "" "0001016445" "00022797" "90" "255" "-9" "255" "0" "c.255-9_255del" "r.spl" "p.?" "" "0001016446" "00022797" "90" "156" "1" "156" "1" "c.156+1G>T" "r.spl" "p.?" "" "0001016447" "00022797" "90" "156" "1" "156" "1" "c.156+1G>T" "r.spl" "p.?" "" "0001016448" "00022797" "90" "156" "2" "156" "2" "c.156+2T>A" "r.spl" "p.?" "" "0001016449" "00022797" "90" "50" "1" "50" "1" "c.50+1G>T" "r.spl" "p.?" "" "0001016450" "00022797" "90" "156" "1" "156" "1" "c.156+1G>T" "r.spl" "p.?" "" "0001016451" "00022797" "90" "156" "1" "156" "1" "c.156+1G>T" "r.spl" "p.?" "" "0001016452" "00022797" "90" "156" "1" "156" "1" "c.156+1G>T" "r.spl" "p.?" "" "0001016453" "00022797" "90" "70" "0" "70" "0" "c.70G>T" "r.(?)" "p.(Glu24Ter)" "" "0001016454" "00022797" "90" "70" "0" "70" "0" "c.70G>T" "r.(?)" "p.(Glu24Ter)" "" "0001042614" "00022797" "10" "4933" "0" "4933" "0" "c.*4612G>A" "r.(=)" "p.(=)" "" "0001042615" "00022797" "50" "2894" "0" "2894" "0" "c.*2573C>T" "r.(=)" "p.(=)" "" "0001042616" "00022797" "50" "-6406" "0" "-6406" "0" "c.-6406C>T" "r.(?)" "p.(=)" "" "0001042617" "00022797" "30" "-6662" "0" "-6662" "0" "c.-6662C>T" "r.(?)" "p.(=)" "" "0001042618" "00022797" "50" "-10813" "0" "-10813" "0" "c.-10813A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000409749" "0001016445" "0000458872" "0001016441" "0000458873" "0001016442" "0000458874" "0001016443" "0000458875" "0001016444" "0000458877" "0001016446" "0000458878" "0001016447" "0000458879" "0001016448" "0000458880" "0001016449" "0000458881" "0001016450" "0000458882" "0001016451" "0000458883" "0001016452" "0000458884" "0001016453" "0000458885" "0001016454"