### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMARCC1) # 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}}" "SMARCC1" "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1" "3" "p21.31" "unknown" "NC_000003.11" "UD_132586324463" "" "https://www.LOVD.nl/SMARCC1" "" "1" "11104" "6599" "601732" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-04-07 10:57:39" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00019424" "SMARCC1" "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1" "001" "NM_003074.3" "" "NP_003065.3" "" "" "" "-118" "5639" "3318" "47823405" "47627378" "" "0000-00-00 00:00:00" "" "" "00025829" "SMARCC1" "mRNA" "000" "NM_003074.4" "" "NP_003065.3" "" "" "" "-96" "6258" "3318" "47823383" "47626759" "00006" "2023-04-07 10:58:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00860" "NTD" "neural tube defects, susceptibility to (NTD)" "AD" "182940" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07008" "HYC5" "hydrocephalus, congenital, type 5, susceptibility" "AD" "620241" "" "" "" "00006" "2023-04-07 10:56:32" "" "" "07009" "HYC" "hydrocephalus" "" "" "" "" "" "00006" "2023-04-07 10:57:22" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SMARCC1" "07008" "SMARCC1" "07009" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00374121" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "F" "" "France" "" "0" "" "" "" "" "00434657" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "F" "" "United States" "" "0" "" "" "African-American" "PatN6" "00434658" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "F" "" "United States" "" "0" "" "" "" "PatN7" "00434788" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "PatN8" "00434789" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "PatN9" "00434790" "" "" "" "2" "" "00006" "{PMID:Mutairi 2018:29360170}" "family, monozygotic twin pair" "F" "" "Saudi Arabia" "" "0" "" "" "" "twins" "00434791" "" "" "" "1" "" "00006" "{PMID:Furey 2018:29983323}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Hydro105-1" "00434792" "" "" "" "1" "" "00006" "{PMID:Furey 2018:29983323}" "3-generation family, 1 affected/2 fetuses died in utero, unaffected carrier father" "F" "" "" "" "0" "" "" "" "Hydro106-4" "00434793" "" "" "" "1" "" "00006" "{PMID:Furey 2018:29983323}" "2-generation family, 1 affected, unaffected carrier father" "F" "" "" "" "0" "" "" "" "Hydro108-1" "00434794" "" "" "" "1" "" "00006" "{PMID:Furey 2018:29983323}" "3-generation family, 1 affected, unaffected carrier mother (from unaffected carrier grandfather)" "M" "" "" "" "0" "" "" "" "Hydro107-1" "00434795" "" "" "" "1" "" "00006" "{PMID:Furey 2018:29983323}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "" "" "0" "" "" "" "Hydro109-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00374121" "00198" "00434657" "05611" "00434658" "05611" "00434788" "05611" "00434789" "05611" "00434790" "00860" "00434791" "07009" "00434792" "07009" "00434793" "07009" "00434794" "07009" "00434795" "07009" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00860, 05611, 07008, 07009 ## Count = 9 "{{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}}" "0000269332" "00198" "00374121" "00006" "Isolated (sporadic)" "<0d" "24w-fetus, ultrasound Hydrocephaly; autopsy Hydrocephaly, Sylvius aqueduct stenosis, camptodactyly, unilateral simian crease" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000324906" "05611" "00434657" "00006" "Isolated (sporadic)" "09y08m" "see paper; ..., 6m-developmental delay; 3y-walk, uses ankle foot orthotics; intellectual disability, no speech; intellectual disability; developmental delay; no learning disability; no attention deficit hyperactivity disorder; no seizures; no spasticity; no hypertonia; no hypotonia; dystonia; no open mouth; no drooling; no meningomyelocele; no polymicrogyria ; no pachygyria; no enlarged cisterna magna; facial asymmetry; epicanthal fold ; dysmorphic ears; asthma; no joint hypermobility; no scoliosis; no vertebral segmentation defect; no narrow chest; no talipes equinovarus; no clinodactyly; no umbilical hernia; no imperforated anus ; no rectovaginal fistula; no single kidney; MRI brain polymicrogyria and pachygyria" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000324907" "05611" "00434658" "00006" "Isolated (sporadic)" "11y07m" "see paper; ..., motor delay, mild truncal hypotonia, mild hemihypertrophy left side ace, bilateral clinodactyly, hyperextensibility; attention deficit hyperactivity disorder, significant difficulties in school; MRI brain retrocerebellar fluid collection consistent with enlarged magna cisterna; no seizures; no intellectual disability; developmental delay, motor delay; learning disability; attention deficit hyperactivity disorder; no seizures; no spasticity; no hypertonia; hypotonia; difficulty moving arms and legs simultaneously; no open mouth; no drooling; no meningomyelocele; no polymicrogyria ; no pachygyria; enlarged cisterna magna; facial asymmetry, left face mild hemihypertrophy; no epicanthal fold ; no dysmorphic ears; no asthma; joint hypermobility; no scoliosis; no vertebral segmentation defect; no narrow chest; no talipes equinovarus; clinodactyly; no umbilical hernia; no imperforated anus ; no rectovaginal fistula; no single kidney; MRI brain retrocerebellar fluid collection consistent with an enlarged cisterna magna" "" "" "" "" "" "" "" "" "" "" "" "0000325034" "00860" "00434790" "00006" "Isolated (sporadic)" "00y10m" "see paper; ..., mild developmental delay; meningomyelocele; scoliosis; vertebral segmentation defect; narrow chest; talipes equinovarus; umbilical hernia; imperforated anus ; rectovaginal fistula; single kidney" "" "" "" "" "" "" "" "" "" "neural tube defect" "" "0000325035" "07009" "00434791" "00006" "Isolated (sporadic)" "" "congenital hydrocephalus with aqueductal stenosis" "" "" "" "" "" "" "" "" "" "hydrocephalus" "" "0000325036" "07009" "00434792" "00006" "Unknown" "" "congenital hydrocephalus with aqueductal stenosis; 2 fetuses died in utero from obstructive hydrocephalus" "" "" "" "" "" "" "" "" "" "hydrocephalus" "" "0000325037" "07009" "00434793" "00006" "Unknown" "" "congenital hydrocephalus with aqueductal stenosis" "" "" "" "" "" "" "" "" "" "hydrocephalus" "" "0000325038" "07009" "00434794" "00006" "Unknown" "" "congenital hydrocephalus with aqueductal stenosis" "" "" "" "" "" "" "" "" "" "hydrocephalus" "" "0000325039" "07009" "00434795" "00006" "Unknown" "" "congenital hydrocephalus with aqueductal stenosis" "" "" "" "" "" "" "" "" "" "hydrocephalus" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000375314" "00374121" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000436129" "00434657" "1" "00006" "00006" "2023-04-07 11:01:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES clinical" "0000436130" "00434658" "1" "00006" "00006" "2023-04-07 11:11:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000436260" "00434788" "1" "00006" "00006" "2023-04-07 13:04:39" "00006" "2023-04-07 13:36:38" "arrayCGH" "DNA" "" "WES" "0000436261" "00434789" "1" "00006" "00006" "2023-04-07 13:08:51" "00006" "2023-04-07 13:37:00" "arrayCGH" "DNA" "" "WES" "0000436262" "00434790" "1" "00006" "00006" "2023-04-07 13:32:05" "00006" "2023-04-07 13:35:32" "RT-PCR;SEQ-NG" "DNA;RNA" "" "WES" "0000436263" "00434791" "1" "00006" "00006" "2023-04-07 13:45:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436264" "00434792" "1" "00006" "00006" "2023-04-07 13:45:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436265" "00434793" "1" "00006" "00006" "2023-04-07 13:45:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436266" "00434794" "1" "00006" "00006" "2023-04-07 13:45:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436267" "00434795" "1" "00006" "00006" "2023-04-07 13:45:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000375314" "SMARCC1" ## 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 = 18 "{{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}}" "0000254339" "0" "30" "3" "47734774" "47734774" "subst" "0" "01943" "SMARCC1_000001" "g.47734774A>G" "" "" "" "SMARCC1(NM_003074.4):c.1182T>C (p.D394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47693284A>G" "" "likely benign" "" "0000719466" "0" "50" "3" "47719794" "47719794" "subst" "0" "01943" "SMARCC1_000003" "g.47719794C>A" "" "" "" "SMARCC1(NM_003074.4):c.1465G>T (p.A489S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786655" "0" "70" "3" "47651818" "47651818" "subst" "0" "00006" "SMARCC1_000004" "g.47651818C>A" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47610328C>A" "" "likely pathogenic" "" "0000877445" "0" "70" "3" "47823144" "47823144" "dup" "0" "03779" "SMARCC1_000005" "g.47823144dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000922486" "0" "90" "3" "47651586" "47651586" "subst" "0" "00006" "SMARCC1_000006" "g.47651586G>A" "" "{PMID:Chen 2022:34906496}" "" "" "father not available; variant mRNA level reduced" "Germline/De novo (untested)" "" "" "0" "" "" "g.47610096G>A" "" "likely pathogenic (dominant)" "" "0000922488" "0" "90" "3" "47677540" "47677540" "del" "0" "00006" "SMARCC1_000007" "g.47677540del" "" "{PMID:Chen 2022:34906496}" "" "" "father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.47636050del" "" "likely pathogenic (dominant)" "" "0000922620" "0" "90" "3" "47770487" "47779878" "del" "0" "00006" "SMARCC1_000008" "g.(47762512_47770487)_(47779878_47787230)del" "" "{PMID:Chen 2022:34906496}" "" "del ex4-6" "candidate disease gene" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (!)" "" "0000922621" "0" "90" "3" "47779508" "47779878" "del" "0" "00006" "SMARCC1_000009" "g.(47777707_47779508)_(47779878_47787230)del" "" "{PMID:Chen 2022:34906496}" "" "" "candidate disease gene" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (!)" "" "0000922622" "0" "90" "3" "47752255" "47752255" "subst" "0" "00006" "SMARCC1_000010" "g.47752255C>T" "" "{PMID:Mutairi 2018:29360170}" "" "" "candidate disease gene; nonsense-mediated decay varaint transcript" "De novo" "" "" "0" "" "" "g.47710765C>T" "" "likely pathogenic (!)" "" "0000922623" "0" "70" "3" "47718267" "47718267" "subst" "0" "00006" "SMARCC1_000011" "g.47718267T>G" "" "{PMID:Furey 2018:29983323}" "" "" "candidate disease gene" "De novo" "" "" "0" "" "" "g.47676777T>G" "" "likely pathogenic (!)" "" "0000922624" "11" "70" "3" "47663808" "47663808" "del" "0" "00006" "SMARCC1_000012" "g.47663808del" "" "{PMID:Furey 2018:29983323}" "" "" "candidate disease gene; incomplete penetrance" "Germline" "" "" "0" "" "" "g.47622318del" "" "likely pathogenic (!)" "" "0000922625" "11" "70" "3" "47777565" "47777565" "subst" "0" "00006" "SMARCC1_000013" "g.47777565T>A" "" "{PMID:Furey 2018:29983323}" "" "" "candidate disease gene; incomplete penetrance" "Germline" "" "" "0" "" "" "g.47736075T>A" "" "likely pathogenic (!)" "" "0000922626" "21" "70" "3" "47718243" "47718253" "dup" "0" "00006" "SMARCC1_000014" "g.47718243_47718253dup" "" "{PMID:Furey 2018:29983323}" "" "" "candidate disease gene; incomplete penetrance" "Germline" "" "" "0" "" "" "g.47676753_47676763dup" "" "likely pathogenic (!)" "" "0000922627" "0" "70" "3" "47730897" "47730898" "dup" "0" "00006" "SMARCC1_000015" "g.47730897_47730898dup" "" "{PMID:Furey 2018:29983323}" "" "" "candidate disease gene" "Germline/De novo (untested)" "" "" "0" "" "" "g.47689408_47689409dup" "" "likely pathogenic (!)" "" "0000923962" "0" "50" "3" "47702889" "47702889" "subst" "0" "02325" "SMARCC1_000016" "g.47702889T>C" "" "" "" "SMARCC1(NM_003074.4):c.2215A>G (p.K739E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034001" "0" "30" "3" "47678100" "47678100" "subst" "0" "01804" "SMARCC1_000017" "g.47678100G>A" "" "" "" "SMARCC1(NM_003074.4):c.2377-474C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034003" "0" "30" "3" "47817046" "47817046" "subst" "0" "01804" "SMARCC1_000018" "g.47817046G>A" "" "" "" "SMARCC1(NM_003074.4):c.196-2620C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051303" "0" "30" "3" "47777588" "47777588" "subst" "1.68832E-5" "01804" "SMARCC1_000019" "g.47777588T>C" "" "" "" "SMARCC1(NM_003074.4):c.512A>G (p.(Tyr171Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SMARCC1 ## Count = 32 "{{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}}" "0000254339" "00019424" "30" "1182" "0" "1182" "0" "c.1182T>C" "r.(?)" "p.(Asp394=)" "" "0000719466" "00019424" "50" "1465" "0" "1465" "0" "c.1465G>T" "r.(?)" "p.(Ala489Ser)" "" "0000786655" "00019424" "70" "2782" "-1" "2782" "-1" "c.2782-1G>T" "r.spl" "p.?" "" "0000877445" "00019424" "70" "145" "0" "145" "0" "c.145dup" "r.(?)" "p.(Val49GlyfsTer27)" "" "0000922486" "00019424" "90" "3013" "0" "3013" "0" "c.3013C>T" "r.3013c>u|<1" "p.Gln1005*" "" "0000922486" "00025829" "90" "3013" "0" "3013" "0" "c.3013C>T" "r.(?)" "p.(Gln1005*)" "" "0000922488" "00019424" "90" "2463" "0" "2463" "0" "c.2463del" "r.(?)" "p.(Asp821Glufs*4)" "" "0000922488" "00025829" "90" "2463" "0" "2463" "0" "c.2463del" "r.(?)" "p.(Asp821Glufs*4)" "" "0000922620" "00019424" "90" "402" "-278" "646" "28" "c.(401+168_402-278)_(646+28_647-287)del" "r.?" "p.?" "3i_6i" "0000922620" "00025829" "90" "402" "-278" "646" "28" "c.(401+168_402-278)_(646+28_647-287)del" "r.?" "p.?" "3i_6i" "0000922621" "00019424" "90" "402" "-278" "483" "11" "c.(401+168_402-278)_(483+11_484-91)del" "r.?" "p.?" "3i_4i" "0000922621" "00025829" "90" "402" "-278" "483" "11" "c.(401+168_402-278)_(483+11_484-91)del" "r.?" "p.?" "3i_4i" "0000922622" "00019424" "90" "836" "0" "836" "0" "c.836G>A" "r.0" "p.0" "" "0000922622" "00025829" "90" "836" "0" "836" "0" "c.836G>A" "r.0" "p.0" "" "0000922623" "00019424" "70" "1577" "0" "1577" "0" "c.1577A>C" "r.(?)" "p.(His526Pro)" "" "0000922623" "00025829" "70" "1577" "0" "1577" "0" "c.1577A>C" "r.(?)" "p.(His526Pro)" "" "0000922624" "00019424" "70" "2672" "0" "2672" "0" "c.2672del" "r.(?)" "p.(Lys891Argfs*6)" "" "0000922624" "00025829" "70" "2672" "0" "2672" "0" "c.2672del" "r.(?)" "p.(Lys891Argfs*6)" "" "0000922625" "00019424" "70" "535" "0" "535" "0" "c.535A>T" "r.(?)" "p.(Lys179*)" "" "0000922625" "00025829" "70" "535" "0" "535" "0" "c.535A>T" "r.(?)" "p.(Lys179*)" "" "0000922626" "00019424" "70" "1592" "0" "1602" "0" "c.1592_1602dup" "r.(?)" "p.(Val535Serfs*29)" "" "0000922626" "00025829" "70" "1592" "0" "1602" "0" "c.1592_1602dup" "r.(?)" "p.(Val535Serfs*29)" "" "0000922627" "00019424" "70" "1242" "0" "1243" "0" "c.1242_1243dup" "r.(?)" "p.(Thr415Lysfs*29)" "" "0000922627" "00025829" "70" "1242" "0" "1243" "0" "c.1242_1243dup" "r.(?)" "p.(Thr415Lysfs*29)" "" "0000923962" "00019424" "50" "2215" "0" "2215" "0" "c.2215A>G" "r.(?)" "p.(Lys739Glu)" "" "0000923962" "00025829" "50" "2215" "0" "2215" "0" "c.2215A>G" "r.(?)" "p.(Lys739Glu)" "" "0001034001" "00019424" "30" "2377" "-474" "2377" "-474" "c.2377-474C>T" "r.(=)" "p.(=)" "" "0001034001" "00025829" "30" "2377" "-474" "2377" "-474" "c.2377-474C>T" "r.(=)" "p.(=)" "" "0001034003" "00019424" "30" "196" "-2620" "196" "-2620" "c.196-2620C>T" "r.(=)" "p.(=)" "" "0001034003" "00025829" "30" "196" "-2620" "196" "-2620" "c.196-2620C>T" "r.(=)" "p.(=)" "" "0001051303" "00019424" "30" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Tyr171Cys)" "" "0001051303" "00025829" "30" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Tyr171Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000375314" "0000786655" "0000436129" "0000922486" "0000436130" "0000922488" "0000436260" "0000922620" "0000436261" "0000922621" "0000436262" "0000922622" "0000436263" "0000922623" "0000436264" "0000922624" "0000436265" "0000922625" "0000436266" "0000922626" "0000436267" "0000922627"