### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCDC23) # 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}}" "CCDC23" "coiled-coil domain containing 23" "1" "p34.2" "unknown" "NC_000001.10" "UD_134712828814" "" "https://www.LOVD.nl/SVBP" "" "1" "29204" "374969" "0" "1" "1" "1" "1" "NOTE: gene name changed from CCDC23 to SVBP\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CCDC23_codingDNA.html" "1" "" "NOTE: gene name changed from CCDC23 to SVBP" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-12 17:35:50" "00000" "2022-05-09 15:51:19" ## 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}}" "00004464" "CCDC23" "coiled-coil domain containing 23" "001" "NM_199342.3" "" "NP_955374.1" "" "" "" "-235" "563" "201" "43283059" "43272723" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05771" "NEDAHM" "neurodevelopmental disorder with ataxia, hypotonia, and microcephaly (NEDAHM)" "AR" "618569" "" "" "" "00006" "2020-06-12 17:38:55" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CCDC23" "05771" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00303456" "" "" "" "2" "" "00006" "{PMID:Iqbal 2019:30607023}" "5-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Syria" "" "0" "" "" "" "Fam1" "00303457" "" "" "" "2" "" "00006" "{PMID:Iqbal 2019:30607023}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Pakistan" "" "0" "" "" "" "Fam2" "00303458" "" "" "" "3" "" "00006" "Verdura ESHG2020 C15.11" "3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Spain" "" "0" "" "" "Basque" "FamA" "00303459" "" "" "" "3" "" "00006" "Verdura ESHG2020 C15.11" "2-generation family, 3 affected (3F), unaffected heterozygous carrier parents" "F" "" "Spain" "" "0" "" "" "Basque" "FamB" "00303460" "" "" "" "4" "" "00006" "{PMID:Pagnamenta 2019:31363758}" "4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam1PatV-6" "00303461" "" "" "00303460" "1" "" "00006" "{PMID:Pagnamenta 2019:31363758}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam1PatV-7" "00303462" "" "" "00303460" "1" "" "00006" "{PMID:Pagnamenta 2019:31363758}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam1PatIV-3" "00303463" "" "" "00303460" "1" "" "00006" "{PMID:Pagnamenta 2019:31363758}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam1PatIV-4" "00303464" "" "" "" "2" "" "00006" "{PMID:Pagnamenta 2019:31363758}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Kuwait" "" "0" "" "" "" "Fam2PatII-2" "00303465" "" "" "00303464" "1" "" "00006" "{PMID:Pagnamenta 2019:31363758}" "" "F" "yes" "Kuwait" "" "0" "" "" "" "Fam2PatII-3" "00303466" "" "" "" "2" "" "00006" "{PMID:Pagnamenta 2019:31363758}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam3PatII-1" "00303467" "" "" "00303466" "1" "" "00006" "{PMID:Pagnamenta 2019:31363758}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam3PatII-2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00303456" "05611" "00303457" "05611" "00303458" "00198" "00303459" "00198" "00303460" "05611" "00303461" "05611" "00303462" "05611" "00303463" "05611" "00303464" "05611" "00303465" "05611" "00303466" "05611" "00303467" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611, 05771 ## Count = 12 "{{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}}" "0000230536" "05611" "00303456" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "NEDAHM" "neurodevelopmental delay" "" "0000230537" "05611" "00303457" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "NEDAHM" "neurodevelopmental delay" "" "0000230538" "00198" "00303458" "00006" "Familial, autosomal recessive" "" "see paper; ..., spastic paraplegia, peripheral neuropathy, verbal apraxia, intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000230539" "00198" "00303459" "00006" "Familial, autosomal recessive" "" "see paper; ..., spastic paraplegia, peripheral neuropathy, verbal apraxia, intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000230540" "05611" "00303460" "00006" "Familial, autosomal recessive" "" "moderate/severe intellectual disability; speech little expressive language, better receptive language (few single words); quiet behaviour; height 4y4m-106.9 cm(50th), 7y7m-122.1 cm (25th); OFC 5y4m 48.5 cm (0.4th); lower limb spasticity with brisk tendon reflexes; delayed gross motor development, walk-24m; MRI showed irregular ventricular margins and a thin corpus callosum; coarse facial features, prominent forehead, epicanthic folds, broad nasal bridge; tapering fingers, short 5th metacarpals; very short 3rd and 4th toes; mirror movements fingers; thick dry curly hair, low anterior hairline, iron deficiency anaemia, muscular ventricular septal defect, mongolian blue spot, long sighted" "" "" "" "" "" "" "" "" "NEDAHM" "neurodevelopmental delay" "" "0000230541" "05611" "00303461" "00006" "Familial, autosomal recessive" "" "severe intellectual disability; speech little expressive language (few single words); behaviour loses temper, bangs head, cries, screams; height 3y4m 90.7 cm (2nd-9th), 9y10m 131.2 cm (9th-25th); OFC 3y11m 45.2 cm (<0.4th); increased tone in the lower limbs, with pathologically brisk reflexes and extensor plantar responses; delayed gross motor development, walk-24m; MRI showed dysgenic corpus callosum with dysmorphic ventricles; slight prominence of CSF spaces; normal cisterna magna, white matter, deep grey structures and calcification (data not shown); 2y-single episode of status epilepticus, ongoing seizure disorder controlled by AEDs (resolved as teenager); coarse facial features, low anterior hairline; mirror movements fingers; thick dry curly hair, squint, iron deficiency, anaemia" "" "" "" "" "" "" "" "" "NEDAHM" "neurodevelopmental delay" "" "0000230542" "05611" "00303462" "00006" "Familial, autosomal recessive" "" "moderate/severe intellectual disability; speech few words; normal behaviour; height 141.3 cm aged 45 years (<0.4th); OFC 45y 56.0 cm (50th-75th) ; no spasticity, walks only with the use of a walking frame, but lower limb tone and reflexes are normal; delayed gross motor development, walk-7y; 13y-14y seizures; coarse facial features; short 3rd, 4th and 5th metacarpals, wasting of the intrinsic muscles of hands with clawing of the fingers; bicuspid aortic valve" "" "" "" "" "" "" "" "" "NEDAHM" "neurodevelopmental delay" "" "0000230543" "05611" "00303463" "00006" "Familial, autosomal recessive" "" "moderate/severe intellectual disability; speech little expressive language (few words - 3 word sentences); normal behaviour; height 39y 158.4 cm (0.4th); OFC 39y 55.5 cm (9th-25th); spastic paraparesis with brisk lower limb reflexes and extensor plantar responses; several operations to release contractures at his hips and ankles; delayed gross motor development, walk-5y; seizures as an infant. seizures when young, resolved as teenager; coarse facial features; short thumbs, marked muscle wasting of the small muscles of hands with clawing of his fingers; mirror movements; hypothyroidism" "" "" "" "" "" "" "" "" "NEDAHM" "neurodevelopmental delay" "" "0000230544" "05611" "00303464" "00006" "Familial, autosomal recessive" "" "intellectual disability; speech few words; normal behaviour; OFC 7y10m 49.7 cm (0.4th); generalized hypertonia predominantly in both lower limbs, easily elicited reflexes, unsteady spastic gait; no gross motor development; MRI brain normal; no facial dysmorphism; mirror movements hand" "" "" "" "" "" "" "" "" "NEDAHM" "neurodevelopmental delay" "" "0000230545" "05611" "00303465" "00006" "Familial, autosomal recessive" "" "intellectual disability; 6y-speech only few word; normal behaviour; height 2y 79 cm (2nd); OFC 2y 44.5 cm (<0.4th); 6y6m 47.5 cm (<0.4th); Yes (generalized hypertonia predominantly in both lower limbs, ankle clonus, easily elicited reflexes, unsteady spastic gait and toe walking); no gross motor development; MRI showed a thin corpus callosum, dilated ventricles with poor volume of white matter (Fig. 1d); no seizures; no facial dysmorphism, just a right preauricular skin tag" "" "" "" "" "" "" "" "" "NEDAHM" "neurodevelopmental delay" "" "0000230546" "05611" "00303466" "00006" "Familial, autosomal recessive" "" "intellectual disability; 21y-speech only 10 words; normal behaviour; unable to stand-flexion deformity at hips and knees; OFC 3y 46 cm (<0.4th); spastic diplegia and non-ambulant; delayed gross motor development, walk on knees; MRI brain normal; coarse facial features; 2-4 toe cutaneous syndactyly" "" "" "" "" "" "" "" "" "NEDAHM" "neurodevelopmental delay" "" "0000230547" "05611" "00303467" "00006" "Familial, autosomal recessive" "" "severe intellectual disability; delayed speech and language development; autistic behaviour; Height 3y6m 96 cm (25th centile); OFC 45 cm (<0.4th); progressive spasticity with delayed gross and fine motor development; delayed gross motor development, walk-14m, needs splints; MRI detected a thin corpus callosum and reduced periventricular white matter bulk with mildly enlarged ventricles (Fig. 1e); hyperpigmentation skin, small café au lait macules" "" "" "" "" "" "" "" "" "NEDAHM" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304585" "00303456" "1" "00006" "00006" "2020-06-12 17:41:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304586" "00303457" "1" "00006" "00006" "2020-06-12 17:45:27" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000304587" "00303458" "1" "00006" "00006" "2020-06-12 17:51:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304588" "00303459" "1" "00006" "00006" "2020-06-12 18:16:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000304589" "00303460" "1" "00006" "00006" "2020-06-12 19:05:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000304590" "00303461" "1" "00006" "00006" "2020-06-12 19:05:40" "" "" "SEQ" "DNA" "" "" "0000304591" "00303462" "1" "00006" "00006" "2020-06-12 19:05:40" "" "" "SEQ" "DNA" "" "" "0000304592" "00303463" "1" "00006" "00006" "2020-06-12 19:05:40" "" "" "SEQ" "DNA" "" "" "0000304593" "00303464" "1" "00006" "00006" "2020-06-12 19:05:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304594" "00303465" "1" "00006" "00006" "2020-06-12 19:05:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304595" "00303466" "1" "00006" "00006" "2020-06-12 19:05:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000304596" "00303467" "1" "00006" "00006" "2020-06-12 19:05:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000304585" "CCDC23" "0000304586" "CCDC23" "0000304587" "CCDC23" "0000304588" "CCDC23" "0000304589" "CCDC23" "0000304590" "CCDC23" "0000304591" "CCDC23" "0000304592" "CCDC23" "0000304593" "CCDC23" "0000304594" "CCDC23" "0000304595" "CCDC23" "0000304596" "CCDC23" ## 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 = 14 "{{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}}" "0000267893" "0" "10" "1" "43296118" "43296118" "subst" "0.233317" "02325" "ERMAP_000001" "g.43296118G>A" "" "" "" "ERMAP(NM_001017922.2):c.-2G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42830447G>A" "" "benign" "" "0000668060" "3" "90" "1" "43282134" "43282134" "subst" "0" "00006" "CCDC23_000003" "g.43282134G>A" "" "{PMID:Iqbal 2019:30607023}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42816463G>A" "" "pathogenic (recessive)" "" "0000668061" "3" "90" "1" "43282134" "43282134" "subst" "0" "00006" "CCDC23_000003" "g.43282134G>A" "" "{PMID:Iqbal 2019:30607023}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42816463G>A" "" "pathogenic (recessive)" "" "0000668062" "3" "90" "1" "43273140" "43273140" "subst" "8.12539E-6" "00006" "CCDC23_000004" "g.43273140A>G" "" "Verdura ESHG2020 C15.11" "" "" "" "Germline" "yes" "" "0" "" "" "g.42807469A>G" "" "pathogenic (recessive)" "" "0000668063" "3" "90" "1" "43273140" "43273140" "subst" "8.12539E-6" "00006" "CCDC23_000004" "g.43273140A>G" "" "Verdura ESHG2020 C15.11" "" "" "" "Germline" "yes" "" "0" "" "" "g.42807469A>G" "" "pathogenic (recessive)" "" "0000668064" "3" "90" "1" "43282134" "43282134" "subst" "0" "00006" "CCDC23_000003" "g.43282134G>A" "" "{PMID:Pagnamenta 2019:31363758}" "" "" "" "Germline" "" "" "0" "" "" "g.42816463G>A" "" "pathogenic (recessive)" "" "0000668065" "3" "90" "1" "43282134" "43282134" "subst" "0" "00006" "CCDC23_000003" "g.43282134G>A" "" "{PMID:Pagnamenta 2019:31363758}" "" "" "" "Germline" "" "" "0" "" "" "g.42816463G>A" "" "pathogenic (recessive)" "" "0000668066" "3" "90" "1" "43282134" "43282134" "subst" "0" "00006" "CCDC23_000003" "g.43282134G>A" "" "{PMID:Pagnamenta 2019:31363758}" "" "" "" "Germline" "" "" "0" "" "" "g.42816463G>A" "" "pathogenic (recessive)" "" "0000668067" "3" "90" "1" "43282134" "43282134" "subst" "0" "00006" "CCDC23_000003" "g.43282134G>A" "" "{PMID:Pagnamenta 2019:31363758}" "" "" "" "Germline" "" "" "0" "" "" "g.42816463G>A" "" "pathogenic (recessive)" "" "0000668068" "3" "90" "1" "43282174" "43282177" "del" "0" "00006" "CCDC23_000005" "g.43282174_43282177del" "" "{PMID:Pagnamenta 2019:31363758}" "" "" "" "Germline" "" "" "0" "" "" "g.42816503_42816506del" "" "pathogenic (recessive)" "" "0000668069" "3" "90" "1" "43282174" "43282177" "del" "0" "00006" "CCDC23_000005" "g.43282174_43282177del" "" "{PMID:Pagnamenta 2019:31363758}" "" "" "" "Germline" "" "" "0" "" "" "g.42816503_42816506del" "" "pathogenic (recessive)" "" "0000668070" "3" "90" "1" "43282134" "43282134" "subst" "0" "00006" "CCDC23_000003" "g.43282134G>A" "" "{PMID:Pagnamenta 2019:31363758}" "" "" "" "Germline" "" "" "0" "" "" "g.42816463G>A" "" "pathogenic (recessive)" "" "0000668071" "3" "90" "1" "43282134" "43282134" "subst" "0" "00006" "CCDC23_000003" "g.43282134G>A" "" "{PMID:Pagnamenta 2019:31363758}" "" "" "" "Germline" "" "" "0" "" "" "g.42816463G>A" "" "pathogenic (recessive)" "" "0000857499" "0" "70" "1" "43296657" "43296657" "subst" "0" "01943" "CCDC23_000006" "g.43296657A>T" "" "" "" "ERMAP(NM_001017922.1):c.304A>T (p.R102*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 CCDC23 ## Count = 14 "{{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}}" "0000267893" "00004464" "10" "-13294" "0" "-13294" "0" "c.-13294C>T" "r.(?)" "p.(=)" "" "0000668060" "00004464" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28*)" "" "0000668061" "00004464" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28*)" "" "0000668062" "00004464" "90" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.(Leu49Pro)" "" "0000668063" "00004464" "90" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.(Leu49Pro)" "" "0000668064" "00004464" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28*)" "" "0000668065" "00004464" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28*)" "" "0000668066" "00004464" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28*)" "" "0000668067" "00004464" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28*)" "" "0000668068" "00004464" "90" "39" "0" "42" "0" "c.39_42del" "r.(?)" "p.(Lys13Asnfs*18)" "" "0000668069" "00004464" "90" "39" "0" "42" "0" "c.39_42del" "r.(?)" "p.(Lys13Asnfs*18)" "" "0000668070" "00004464" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28*)" "" "0000668071" "00004464" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28*)" "" "0000857499" "00004464" "70" "-13833" "0" "-13833" "0" "c.-13833T>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000304585" "0000668060" "0000304586" "0000668061" "0000304587" "0000668062" "0000304588" "0000668063" "0000304589" "0000668064" "0000304590" "0000668065" "0000304591" "0000668066" "0000304592" "0000668067" "0000304593" "0000668068" "0000304594" "0000668069" "0000304595" "0000668070" "0000304596" "0000668071"