### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EXOSC9) # 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}}" "EXOSC9" "exosome component 9" "4" "q27" "unknown" "NG_029848.1" "UD_132118269774" "" "https://www.LOVD.nl/EXOSC9" "" "1" "9137" "5393" "606180" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/EXOSC9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-05-08 23:05:25" "00000" "2025-05-05 21:14:00" ## 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}}" "00025271" "EXOSC9" "transcript variant 1" "002" "NM_001034194.1" "" "NP_001029366.1" "" "" "" "-108" "1536" "1371" "122722472" "122738176" "00006" "2018-05-08 23:08:40" "" "" ## 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}}" "05428" "atrophy, cerebellar" "atrophy, cerebellar" "" "" "" "" "" "00006" "2018-05-11 14:19:31" "" "" "06636" "PCH1D" "hypoplasia, pontocerebellar, type 1D" "AR" "618065" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2022-10-17 11:07:50" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EXOSC9" "06636" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00164232" "" "" "" "1" "" "00006" "{PMID:Burns 2018:29727687}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "El Salvador" "" "0" "" "" "" "29727687-Pat1" "00164233" "" "" "" "1" "" "00006" "{PMID:Burns 2018:29727687}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Canada;Jamaica" "01y03m" "0" "" "" "African-Canadian;Jamaican" "29727687-Pat2" "00164234" "" "" "" "1" "" "00006" "{PMID:Burns 2018:29727687}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "29727687-Pat3" "00164235" "" "" "" "1" "" "00006" "{PMID:Burns 2018:29727687}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "African-European-Fillipino" "29727687-Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00164232" "05428" "00164233" "05428" "00164234" "05428" "00164235" "05428" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05428, 06636 ## Count = 4 "{{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}}" "0000129342" "05428" "00164232" "00006" "Familial, autosomal recessive" "02y04m" "see paper; ..., cerebellar atrophy, spinal motor neuronopathy" "00y08m" "" "" "" "" "" "" "" "" "0000129343" "05428" "00164233" "00006" "Familial, autosomal recessive" "" "see paper; ..., cerebellar atrophy, spinal motor neuronopathy" "" "" "1d" "" "" "" "" "" "" "0000129344" "05428" "00164234" "00006" "Familial, autosomal recessive" "04y06m" "see paper; ..., cerebellar atrophy, spinal motor neuronopathy" "00y00m01d" "" "" "" "" "" "" "" "" "0000129345" "05428" "00164235" "00006" "Familial, autosomal recessive" "01y07m" "see paper; ..., cerebellar atrophy, spinal motor neuronopathy" "00y00m14d" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165099" "00164232" "1" "00006" "00006" "2018-05-11 14:23:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165100" "00164233" "1" "00006" "00006" "2018-05-11 14:27:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165101" "00164234" "1" "00006" "00006" "2018-05-11 14:31:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165102" "00164235" "1" "00006" "00006" "2018-05-11 14:34:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000165099" "EXOSC9" "0000165100" "EXOSC9" "0000165101" "EXOSC9" "0000165102" "EXOSC9" ## 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 = 32 "{{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}}" "0000246242" "0" "10" "4" "122747117" "122747117" "subst" "8.1644E-6" "02330" "BBS7_000028" "g.122747117A>G" "" "" "" "BBS7(NM_176824.3):c.2046T>C (p.F682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121825962A>G" "" "benign" "" "0000259236" "0" "10" "4" "122749541" "122749541" "subst" "0.3496" "02325" "BBS7_000008" "g.122749541C>T" "" "" "" "BBS7(NM_176824.2):c.1890+16G>A, BBS7(NM_176824.3):c.1890+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828386C>T" "" "benign" "" "0000259237" "0" "10" "4" "122749436" "122749436" "subst" "0.76938" "02325" "BBS7_000007" "g.122749436G>T" "" "" "" "BBS7(NM_176824.2):c.1891-12C>A, BBS7(NM_176824.3):c.1891-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828281G>T" "" "benign" "" "0000263597" "0" "90" "4" "122749661" "122749661" "subst" "4.06504E-6" "01943" "BBS7_000009" "g.122749661C>T" "" "" "" "BBS7(NM_176824.2):c.1787-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828506C>T" "" "pathogenic" "" "0000263599" "0" "10" "4" "122749541" "122749541" "subst" "0.3496" "01943" "BBS7_000008" "g.122749541C>T" "" "" "" "BBS7(NM_176824.2):c.1890+16G>A, BBS7(NM_176824.3):c.1890+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828386C>T" "" "benign" "" "0000263600" "0" "10" "4" "122749436" "122749436" "subst" "0.76938" "01943" "BBS7_000007" "g.122749436G>T" "" "" "" "BBS7(NM_176824.2):c.1891-12C>A, BBS7(NM_176824.3):c.1891-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828281G>T" "" "benign" "" "0000263601" "0" "50" "4" "122747146" "122747146" "subst" "4.09964E-6" "01943" "BBS7_000029" "g.122747146T>A" "" "" "" "BBS7(NM_176824.2):c.2017A>T (p.M673L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121825991T>A" "" "VUS" "" "0000266557" "0" "10" "4" "122742217" "122742217" "subst" "0.962451" "02325" "CCNA2_000003" "g.122742217T>C" "" "" "" "CCNA2(NM_001237.5):c.487A>G (p.I163V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121821062T>C" "" "benign" "" "0000272854" "0" "30" "4" "122739985" "122739985" "subst" "0.000292452" "01943" "CCNA2_000001" "g.122739985T>C" "" "" "" "CCNA2(NM_001237.4):c.1086A>G (p.L362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121818830T>C" "" "likely benign" "" "0000272855" "0" "50" "4" "122740711" "122740711" "subst" "0" "01943" "CCNA2_000002" "g.122740711G>A" "" "" "" "CCNA2(NM_001237.4):c.818C>T (p.P273L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121819556G>A" "" "VUS" "" "0000330085" "0" "50" "4" "122744765" "122744765" "subst" "0" "01804" "CCNA2_000004" "g.122744765G>A" "" "" "" "CCNA2(NM_001237.3):c.19C>T (p.(Pro7Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121823610G>A" "" "VUS" "" "0000337066" "0" "10" "4" "122749436" "122749436" "subst" "0.76938" "02327" "BBS7_000007" "g.122749436G>T" "" "" "" "BBS7(NM_176824.2):c.1891-12C>A, BBS7(NM_176824.3):c.1891-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121828281G>T" "" "benign" "" "0000368715" "3" "90" "4" "122722620" "122722620" "subst" "5.27983E-5" "00006" "EXOSC9_000001" "g.122722620T>C" "" "{PMID:Burns 2018:29727687}" "" "" "" "Germline" "" "" "0" "" "" "g.121801465T>C" "" "pathogenic" "" "0000368716" "11" "90" "4" "122722620" "122722620" "subst" "5.27983E-5" "00006" "EXOSC9_000001" "g.122722620T>C" "" "{PMID:Burns 2018:29727687}" "" "" "" "Germline" "" "" "0" "" "" "g.121801465T>C" "" "pathogenic" "" "0000368717" "21" "90" "4" "122725873" "122725873" "subst" "2.03376E-5" "00006" "EXOSC9_000002" "g.122725873C>T" "" "{PMID:Burns 2018:29727687}" "" "" "" "Germline" "" "" "0" "" "" "g.121804718C>T" "" "pathogenic" "" "0000368718" "3" "90" "4" "122722620" "122722620" "subst" "5.27983E-5" "00006" "EXOSC9_000001" "g.122722620T>C" "" "{PMID:Burns 2018:29727687}" "" "" "" "Germline" "" "" "0" "" "" "g.121801465T>C" "" "pathogenic" "" "0000368719" "3" "90" "4" "122722620" "122722620" "subst" "5.27983E-5" "00006" "EXOSC9_000001" "g.122722620T>C" "" "{PMID:Burns 2018:29727687}" "" "" "" "Germline" "" "" "0" "" "" "g.121801465T>C" "" "pathogenic" "" "0000521429" "0" "30" "4" "122749547" "122749548" "del" "9.34488E-5" "02330" "CCNA2_000005" "g.122749547_122749548del" "" "" "" "BBS7(NM_176824.3):c.1890+9_1890+10delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121828392_121828393del" "" "likely benign" "" "0000521430" "0" "10" "4" "122750143" "122750143" "dup" "0" "02326" "CCNA2_000006" "g.122750143dup" "" "" "" "BBS7(NM_176824.3):c.1677-258dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121828988dup" "" "benign" "" "0000609052" "0" "50" "4" "122749670" "122749670" "subst" "0" "01943" "CCNA2_000008" "g.122749670G>C" "" "" "" "BBS7(NM_176824.2):c.1787-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121828515G>C" "" "VUS" "" "0000621345" "0" "50" "4" "122737991" "122737995" "del" "0" "02325" "CCNA2_000007" "g.122737991_122737995del" "" "" "" "EXOSC9(NM_001034194.2):c.1351_1355delAAGAA (p.K451Efs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121816836_121816840del" "" "VUS" "" "0000677175" "0" "50" "4" "122723888" "122723888" "subst" "0" "01943" "CCNA2_000009" "g.122723888G>T" "" "" "" "EXOSC9(NM_001034194.1):c.221G>T (p.G74V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677176" "0" "30" "4" "122725850" "122725850" "subst" "3.25394E-5" "01943" "CCNA2_000010" "g.122725850C>G" "" "" "" "EXOSC9(NM_001034194.1):c.458C>G (p.A153G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689220" "0" "50" "4" "122749303" "122749303" "subst" "1.21915E-5" "01943" "CCNA2_000011" "g.122749303T>C" "" "" "" "BBS7(NM_176824.2):c.2012A>G (p.Y671C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850516" "0" "50" "4" "122749376" "122749376" "subst" "0" "01943" "CCNA2_000012" "g.122749376G>T" "" "" "" "BBS7(NM_176824.2):c.1939C>A (p.H647N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976093" "0" "30" "4" "122734380" "122734380" "dup" "0" "01804" "CCNA2_000014" "g.122734380dup" "" "" "" "EXOSC9(NM_005033.3):c.828-9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976094" "0" "50" "4" "122734442" "122734442" "subst" "7.71787E-5" "01804" "CCNA2_000015" "g.122734442C>T" "" "" "" "EXOSC9(NM_005033.3):c.881C>T (p.(Thr294Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976095" "0" "50" "4" "122737559" "122737561" "del" "0" "01804" "CCNA2_000016" "g.122737559_122737561del" "" "" "" "EXOSC9(NM_005033.3):c.1192_1194del (p.(Glu398del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994070" "0" "30" "4" "122735034" "122735034" "subst" "4.06587E-6" "01804" "CCNA2_000017" "g.122735034G>A" "" "" "" "EXOSC9(NM_005033.2):c.988G>A (p.(Val330Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034300" "0" "30" "4" "122728786" "122728786" "subst" "5.69027E-5" "01804" "CCNA2_000018" "g.122728786C>T" "" "" "" "EXOSC9(NM_005033.3):c.605+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034301" "0" "50" "4" "122739218" "122739222" "del" "0" "01804" "CCNA2_000019" "g.122739218_122739222del" "" "" "" "CCNA2(NM_001237.5):c.1229_1233del (p.(Arg410Lysfs*46))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034302" "0" "30" "4" "122749668" "122749668" "subst" "0" "01804" "CCNA2_000020" "g.122749668G>A" "" "" "" "BBS7(NM_176824.3):c.1787-8C>T" "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 EXOSC9 ## 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}}" "0000246242" "00025271" "10" "10477" "0" "10477" "0" "c.*9106A>G" "r.(=)" "p.(=)" "" "0000259236" "00025271" "10" "12901" "0" "12901" "0" "c.*11530C>T" "r.(=)" "p.(=)" "" "0000259237" "00025271" "10" "12796" "0" "12796" "0" "c.*11425G>T" "r.(=)" "p.(=)" "" "0000263597" "00025271" "90" "13021" "0" "13021" "0" "c.*11650C>T" "r.(=)" "p.(=)" "" "0000263599" "00025271" "10" "12901" "0" "12901" "0" "c.*11530C>T" "r.(=)" "p.(=)" "" "0000263600" "00025271" "10" "12796" "0" "12796" "0" "c.*11425G>T" "r.(=)" "p.(=)" "" "0000263601" "00025271" "50" "10506" "0" "10506" "0" "c.*9135T>A" "r.(=)" "p.(=)" "" "0000266557" "00025271" "10" "5577" "0" "5577" "0" "c.*4206T>C" "r.(=)" "p.(=)" "" "0000272854" "00025271" "30" "3345" "0" "3345" "0" "c.*1974T>C" "r.(=)" "p.(=)" "" "0000272855" "00025271" "50" "4071" "0" "4071" "0" "c.*2700G>A" "r.(=)" "p.(=)" "" "0000330085" "00025271" "50" "8125" "0" "8125" "0" "c.*6754G>A" "r.(=)" "p.(=)" "" "0000337066" "00025271" "10" "12796" "0" "12796" "0" "c.*11425G>T" "r.(=)" "p.(=)" "" "0000368715" "00025271" "90" "41" "0" "41" "0" "c.41T>C" "r.(?)" "p.(Leu14Pro)" "1" "0000368716" "00025271" "90" "41" "0" "41" "0" "c.41T>C" "r.(?)" "p.(Leu14Pro)" "1" "0000368717" "00025271" "90" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161*)" "5" "0000368718" "00025271" "90" "41" "0" "41" "0" "c.41T>C" "r.(?)" "p.(Leu14Pro)" "1" "0000368719" "00025271" "90" "41" "0" "41" "0" "c.41T>C" "r.(?)" "p.(Leu14Pro)" "1" "0000521429" "00025271" "30" "12907" "0" "12908" "0" "c.*11536_*11537del" "r.(=)" "p.(=)" "" "0000521430" "00025271" "10" "13503" "0" "13503" "0" "c.*12132dup" "r.(?)" "p.(=)" "" "0000609052" "00025271" "50" "13030" "0" "13030" "0" "c.*11659G>C" "r.(=)" "p.(=)" "" "0000621345" "00025271" "50" "1351" "0" "1355" "0" "c.1351_1355del" "r.(?)" "p.(Lys451GlufsTer15)" "" "0000677175" "00025271" "50" "221" "0" "221" "0" "c.221G>T" "r.(?)" "p.(Gly74Val)" "" "0000677176" "00025271" "30" "458" "0" "458" "0" "c.458C>G" "r.(?)" "p.(Ala153Gly)" "" "0000689220" "00025271" "50" "12663" "0" "12663" "0" "c.*11292T>C" "r.(=)" "p.(=)" "" "0000850516" "00025271" "50" "12736" "0" "12736" "0" "c.*11365G>T" "r.(=)" "p.(=)" "" "0000976093" "00025271" "30" "828" "-9" "828" "-9" "c.828-9dup" "r.(=)" "p.(=)" "" "0000976094" "00025271" "50" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Thr294Ile)" "" "0000976095" "00025271" "50" "1243" "0" "1245" "0" "c.1243_1245del" "r.(?)" "p.(Glu415del)" "" "0000994070" "00025271" "30" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Val330Met)" "" "0001034300" "00025271" "30" "605" "9" "605" "9" "c.605+9C>T" "r.(=)" "p.(=)" "" "0001034301" "00025271" "50" "2578" "0" "2582" "0" "c.*1207_*1211del" "r.(=)" "p.(=)" "" "0001034302" "00025271" "30" "13028" "0" "13028" "0" "c.*11657G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000165099" "0000368715" "0000165100" "0000368716" "0000165100" "0000368717" "0000165101" "0000368718" "0000165102" "0000368719"