### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CAMSAP1) # 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}}" "CAMSAP1" "calmodulin regulated spectrin-associated protein 1" "9" "q34.3" "unknown" "NC_000009.11" "UD_136021540321" "" "https://www.LOVD.nl/CAMSAP1" "" "1" "19946" "157922" "613774" "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/CAMSAP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-11-27 11:33:36" "00000" "2025-11-01 13:22:20" ## 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}}" "00004318" "CAMSAP1" "calmodulin regulated spectrin-associated protein 1" "001" "NM_015447.3" "" "NP_056262.3" "" "" "" "1" "7631" "4809" "138799005" "138700333" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "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 = 1 "{{geneid}}" "{{diseaseid}}" "CAMSAP1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00426065" "" "" "" "3" "" "00006" "{PMID:Khalaf-Nazzal 2022:36283405}" "5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Palestine" "" "0" "" "" "" "Fam1PatV1" "00426066" "" "" "00426065" "1" "" "00006" "{PMID:Khalaf-Nazzal 2022:36283405}" "" "F" "yes" "Palestine" "" "0" "" "" "" "Fam1PatIV10" "00426067" "" "" "00426065" "1" "" "00006" "{PMID:Khalaf-Nazzal 2022:36283405}" "" "M" "yes" "Palestine" "" "0" "" "" "" "Fam1PatIV11" "00426068" "" "" "" "1" "" "00006" "{PMID:Khalaf-Nazzal 2022:36283405}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "United States" "" "0" "" "" "" "Fam2PatII1" "00426069" "" "" "" "1" "" "00006" "{PMID:Khalaf-Nazzal 2022:36283405}" "2-generation family, 1 affected, unaffected parents" "M" "no" "United States" "" "0" "" "" "" "Fam3PatII1" "00426070" "" "" "" "1" "" "00006" "{PMID:Khalaf-Nazzal 2022:36283405}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "Fam4PatII1" "00426071" "" "" "" "1" "" "00006" "{PMID:Khalaf-Nazzal 2022:36283405}" "2-generation family, 1 affected, unaffected parents" "F" "" "United States" "5y6m" "0" "" "" "" "Fam5PatII1" "00426173" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "yes" "Oman" "" "0" "" "" "" "12DK11500" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00426065" "05611" "00426066" "05611" "00426067" "05611" "00426068" "05611" "00426069" "05611" "00426070" "05611" "00426071" "05611" "00426173" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05611 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000317229" "05611" "00426065" "00006" "Familial, autosomal recessive" "3y" "birth microcephaly; profound global developmental delay; decreased central tone; increased peripheral tone; increased deep tendon reflexes; increased plantar reflexes; 1m-seizures; cortical visual impairment; feeding difficulties; prominent metopic suture; wide nasal bridge; pronounced cupids bow; large prominent ears; high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; no enlarged posterior fossa; mild cerebellar hypoplasia; hyperopia with astigmatism, clinodactyly" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000317230" "05611" "00426066" "00006" "Familial, autosomal recessive" "3y10m" "1m-microcephaly; profound global developmental delay; decreased central tone; increased peripheral tone; increased deep tendon reflexes; increased plantar reflexes; no seizures; cortical visual impairment; feeding difficulties; prominent metopic suture; wide nasal bridge; pronounced cupids bow; large prominent ears; high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; no enlarged posterior fossa; mild cerebellar hypoplasia; clinodactyly" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000317231" "05611" "00426067" "00006" "Familial, autosomal recessive" "4m" "birth microcephaly; profound global developmental delay; decreased central tone; 2m-seizures; feeding difficulties; prominent metopic suture; wide nasal bridge; pronounced cupids bow; large prominent ears; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; no enlarged posterior fossa; cerebellar hypoplasia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000317232" "05611" "00426068" "00006" "Familial, autosomal recessive" "5y" "birth microcephaly; severe global developmental delay; decreased central tone; increased peripheral tone; increased deep tendon reflexes, brisk; 4m-5m seizures; EEG modified hypsarrhythmia; cortical visual impairment; feeding difficulties; prominent metopic suture; wide nasal bridge; pronounced cupids bow; large prominent ears; no high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; enlarged posterior fossa; cerebellar hypoplasia; cryptorchidism, scoliosis" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000317233" "05611" "00426069" "00006" "Familial, autosomal recessive" "1y8m" "4m-microcephaly; severe global developmental delay; decreased central tone; decreased peripheral tone; increased deep tendon reflexes; absent plantar reflexes; 4m-seizures; EEG hypsarrhythmia; cortical visual impairment; gastrostomy; prominent metopic suture; wide nasal bridge; pronounced cupids bow; large prominent ears; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; no enlarged posterior fossa; cerebellar hypoplasia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000317234" "05611" "00426070" "00006" "Familial, autosomal recessive" "5y6m" "birht OFC32 (-2.5); severe global developmental delay; severely decreased central tone; increased peripheral tone; increased deep tendon reflexes; 5m-seizures; EEG burst suppression; cortical visual impairment; feeding difficulties; no prominent metopic suture; wide nasal bridge; no pronounced cupids bow; large prominent ears; high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; enlarged posterior fossa; cerebellar hypoplasia; cryptorchidism, femoral hernia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000317235" "05611" "00426071" "00006" "Familial, autosomal recessive" "4y10m" "birth OFC 31.8 (-2.2); 5y6m-deceased; severe global developmental delay; decreased central tone; increased peripheral tone; increased deep tendon reflexes; 2m-seizures; EEG multifocal epileptiform discharges; cortical visual impairment; gastrostomy; no prominent metopic suture; wide nasal bridge; pronounced cupids bow; no large prominent ears; high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; no enlarged posterior fossa; mild cerebellar hypoplasia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000317323" "00139" "00426173" "00006" "Familial, autosomal recessive" "11y" "Facial dysmorphic features, severe neurodevelopmental delay, cortical visual impairment and seizures" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000427385" "00426065" "1" "00006" "00006" "2022-11-27 14:10:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427386" "00426066" "1" "00006" "00006" "2022-11-27 14:10:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427387" "00426067" "1" "00006" "00006" "2022-11-27 14:10:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427388" "00426068" "1" "00006" "00006" "2022-11-27 14:10:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427389" "00426069" "1" "00006" "00006" "2022-11-27 14:10:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427390" "00426070" "1" "00006" "00006" "2022-11-27 14:10:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427391" "00426071" "1" "00006" "00006" "2022-11-27 14:10:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427493" "00426173" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "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 = 24 "{{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}}" "0000272583" "0" "30" "9" "138714274" "138714274" "subst" "7.71699E-5" "01943" "CAMSAP1_000003" "g.138714274T>C" "" "" "" "CAMSAP1(NM_015447.4):c.2233A>G (p.I745V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135822428T>C" "" "likely benign" "" "0000272584" "0" "30" "9" "138714222" "138714222" "subst" "4.06402E-5" "01943" "CAMSAP1_000002" "g.138714222C>T" "" "" "" "CAMSAP1(NM_015447.4):c.2285G>A (p.S762N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135822376C>T" "" "likely benign" "" "0000537140" "0" "30" "9" "138714284" "138714284" "subst" "0" "01804" "CAMSAP1_000004" "g.138714284A>T" "" "" "" "CAMSAP1(NM_015447.3):c.2223T>A (p.(Asp741Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135822438A>T" "" "likely benign" "" "0000722381" "0" "30" "9" "138713193" "138713193" "subst" "2.853E-5" "01943" "CAMSAP1_000005" "g.138713193G>A" "" "" "" "CAMSAP1(NM_015447.4):c.3314C>T (p.A1105V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904743" "3" "90" "9" "138713779" "138713800" "del" "0" "00006" "CAMSAP1_000008" "g.138713779_138713800del" "" "{PMID:Khalaf-Nazzal 2022:36283405}" "" "" "" "Germline" "yes" "" "0" "" "" "g.135821933_135821954del" "" "pathogenic (recessive)" "" "0000904744" "3" "90" "9" "138713779" "138713800" "del" "0" "00006" "CAMSAP1_000008" "g.138713779_138713800del" "" "{PMID:Khalaf-Nazzal 2022:36283405}" "" "" "" "Germline" "yes" "" "0" "" "" "g.135821933_135821954del" "" "pathogenic (recessive)" "" "0000904745" "3" "90" "9" "138713779" "138713800" "del" "0" "00006" "CAMSAP1_000008" "g.138713779_138713800del" "" "{PMID:Khalaf-Nazzal 2022:36283405}" "" "" "" "Germline" "yes" "" "0" "" "" "g.135821933_135821954del" "" "pathogenic (recessive)" "" "0000904746" "11" "90" "9" "138714801" "138714801" "dup" "0" "00006" "CAMSAP1_000011" "g.138714801dup" "" "{PMID:Khalaf-Nazzal 2022:36283405}" "" "1707dupT" "" "Germline" "" "" "0" "" "" "g.135822955dup" "" "pathogenic (recessive)" "" "0000904747" "1" "90" "9" "138713779" "138713800" "del" "0" "00006" "CAMSAP1_000008" "g.138713779_138713800del" "" "{PMID:Khalaf-Nazzal 2022:36283405}" "" "" "" "Germline" "" "" "0" "" "" "g.135821933_135821954del" "" "pathogenic (recessive)" "" "0000904748" "3" "90" "9" "138714676" "138714676" "subst" "0" "00006" "CAMSAP1_000010" "g.138714676T>A" "" "{PMID:Khalaf-Nazzal 2022:36283405}" "" "" "" "Germline" "" "" "0" "" "" "g.135822830T>A" "" "pathogenic (recessive)" "" "0000904749" "3" "90" "9" "138709901" "138709901" "subst" "0" "00006" "CAMSAP1_000006" "g.138709901G>C" "" "{PMID:Khalaf-Nazzal 2022:36283405}" "" "" "" "Germline" "" "" "0" "" "" "g.135818055G>C" "" "pathogenic (recessive)" "" "0000904750" "21" "90" "9" "138713377" "138713377" "subst" "0" "00006" "CAMSAP1_000007" "g.138713377G>A" "" "{PMID:Khalaf-Nazzal 2022:36283405}" "" "" "" "Germline" "" "" "0" "" "" "g.135821531G>A" "" "pathogenic (recessive)" "" "0000904751" "2" "90" "9" "138713869" "138713869" "subst" "0" "00006" "CAMSAP1_000009" "g.138713869G>A" "" "{PMID:Khalaf-Nazzal 2022:36283405}" "" "" "" "Germline" "" "" "0" "" "" "g.135822023G>A" "" "pathogenic (recessive)" "" "0000904853" "3" "70" "9" "138773543" "138773543" "subst" "6.58657E-6" "00006" "CAMSAP1_000012" "g.138773543G>A" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "reported as candidate disease gene" "Germline" "" "rs1187560194" "0" "" "" "g.135881697G>A" "" "VUS" "" "0000978534" "0" "50" "9" "138706941" "138706941" "subst" "5.31702E-5" "01804" "CAMSAP1_000013" "g.138706941G>A" "" "" "" "CAMSAP1(NM_015447.4):c.4506+2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978535" "0" "30" "9" "138710849" "138710849" "subst" "0.000196989" "01804" "CAMSAP1_000014" "g.138710849C>T" "" "" "" "CAMSAP1(NM_015447.4):c.3959+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978536" "0" "30" "9" "138716726" "138716726" "subst" "0.000543077" "01804" "CAMSAP1_000015" "g.138716726G>A" "" "" "" "CAMSAP1(NM_015447.4):c.1224C>T (p.(Leu408=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037299" "0" "30" "9" "138709932" "138709932" "subst" "0" "01804" "CAMSAP1_000016" "g.138709932G>A" "" "" "" "CAMSAP1(NM_015447.4):c.4169-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037300" "0" "50" "9" "138713316" "138713316" "subst" "4.06072E-6" "01804" "CAMSAP1_000017" "g.138713316G>A" "" "" "" "CAMSAP1(NM_015447.4):c.3191C>T (p.(Ser1064Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037301" "0" "50" "9" "138714948" "138714948" "subst" "2.8431E-5" "01804" "CAMSAP1_000018" "g.138714948G>A" "" "" "" "CAMSAP1(NM_015447.4):c.1559C>T (p.(Thr520Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037302" "0" "30" "9" "138715791" "138715791" "subst" "0.00078232" "01804" "CAMSAP1_000019" "g.138715791C>T" "" "" "" "CAMSAP1(NM_015447.4):c.1400+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037303" "0" "30" "9" "138758297" "138758297" "subst" "0.00419401" "01804" "CAMSAP1_000020" "g.138758297T>G" "" "" "" "CAMSAP1(NM_015447.4):c.666+5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053417" "0" "30" "9" "138710348" "138710348" "subst" "0.00466713" "01804" "CAMSAP1_000021" "g.138710348G>A" "" "" "" "CAMSAP1(NM_015447.4):c.4074C>T (p.(Leu1358=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053418" "0" "50" "9" "138713799" "138713799" "subst" "4.08871E-6" "01804" "CAMSAP1_000022" "g.138713799G>A" "" "" "" "CAMSAP1(NM_015447.4):c.2708C>T (p.(Ser903Leu))" "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 CAMSAP1 ## Count = 24 "{{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}}" "0000272583" "00004318" "30" "2233" "0" "2233" "0" "c.2233A>G" "r.(?)" "p.(Ile745Val)" "" "0000272584" "00004318" "30" "2285" "0" "2285" "0" "c.2285G>A" "r.(?)" "p.(Ser762Asn)" "" "0000537140" "00004318" "30" "2223" "0" "2223" "0" "c.2223T>A" "r.(?)" "p.(Asp741Glu)" "" "0000722381" "00004318" "30" "3314" "0" "3314" "0" "c.3314C>T" "r.(?)" "p.(Ala1105Val)" "" "0000904743" "00004318" "90" "2717" "0" "2738" "0" "c.2717_2738del" "r.(?)" "p.(Gln906LeufsTer7)" "" "0000904744" "00004318" "90" "2717" "0" "2738" "0" "c.2717_2738del" "r.(?)" "p.(Gln906LeufsTer7)" "" "0000904745" "00004318" "90" "2717" "0" "2738" "0" "c.2717_2738del" "r.(?)" "p.(Gln906LeufsTer7)" "" "0000904746" "00004318" "90" "1707" "0" "1707" "0" "c.1707dupT" "r.(?)" "p.(Thr570TyrfsTer17)" "" "0000904747" "00004318" "90" "2717" "0" "2738" "0" "c.2717_2738del" "r.(?)" "p.(Gln906LeufsTer7)" "" "0000904748" "00004318" "90" "1831" "0" "1831" "0" "c.1831A>T" "r.(?)" "p.(Lys611Ter)" "" "0000904749" "00004318" "90" "4193" "0" "4193" "0" "c.4193C>G" "r.(?)" "p.(Ser1398Ter)" "" "0000904750" "00004318" "90" "3130" "0" "3130" "0" "c.3130C>T" "r.(?)" "p.(Gln1044Ter)" "" "0000904751" "00004318" "90" "2638" "0" "2638" "0" "c.2638C>T" "r.(?)" "p.(Gln880Ter)" "" "0000904853" "00004318" "70" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Thr174Met)" "" "0000978534" "00004318" "50" "4506" "2" "4506" "2" "c.4506+2C>T" "r.spl?" "p.?" "" "0000978535" "00004318" "30" "3959" "7" "3959" "7" "c.3959+7G>A" "r.(=)" "p.(=)" "" "0000978536" "00004318" "30" "1224" "0" "1224" "0" "c.1224C>T" "r.(?)" "p.(=)" "" "0001037299" "00004318" "30" "4169" "-7" "4169" "-7" "c.4169-7C>T" "r.(=)" "p.(=)" "" "0001037300" "00004318" "50" "3191" "0" "3191" "0" "c.3191C>T" "r.(?)" "p.(Ser1064Leu)" "" "0001037301" "00004318" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Thr520Met)" "" "0001037302" "00004318" "30" "1400" "5" "1400" "5" "c.1400+5G>A" "r.spl?" "p.?" "" "0001037303" "00004318" "30" "666" "5" "666" "5" "c.666+5A>C" "r.spl?" "p.?" "" "0001053417" "00004318" "30" "4074" "0" "4074" "0" "c.4074C>T" "r.(?)" "p.(=)" "" "0001053418" "00004318" "50" "2708" "0" "2708" "0" "c.2708C>T" "r.(?)" "p.(Ser903Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000427385" "0000904743" "0000427386" "0000904744" "0000427387" "0000904745" "0000427388" "0000904746" "0000427388" "0000904750" "0000427389" "0000904747" "0000427389" "0000904751" "0000427390" "0000904748" "0000427391" "0000904749" "0000427493" "0000904853"