### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CTSC) # 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}}" "CTSC" "cathepsin C" "11" "q14.2" "unknown" "LRG_50" "UD_132084717486" "" "http://www.LOVD.nl/CTSC" "" "1" "2528" "1075" "602365" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/CTSC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-05-03 11:59:52" "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}}" "00005866" "CTSC" "transcript variant 1" "001" "NM_001814.4" "" "NP_001805.3" "" "" "" "-101" "1806" "1392" "88070941" "88026760" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01501" "-" "periodontitis 1, juvenile" "AR" "170650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01879" "PALS" "Papillon-Lefevre syndrome (PALS)" "AR" "245000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01880" "HMS" "Haim-Munk syndrome (HMS)" "AR" "245010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CTSC" "01501" "CTSC" "01879" "CTSC" "01880" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00037750" "" "" "" "1" "" "00760" "{PMID:Erzurumluoglu 2015:25799584}, {DOI:Erzurumluoglu 2015:10.1038/jhg.2014}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arabic" "" "00376338" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00037750" "01879" "00376338" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01501, 01879, 01880 ## Count = 2 "{{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}}" "0000028301" "01879" "00037750" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000271546" "00198" "00376338" "02551" "Unknown" "" "Periodontitis (HP:0000704)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037983" "00037750" "1" "00760" "00760" "2015-05-02 16:56:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000377534" "00376338" "1" "02551" "02551" "2021-06-21 13:41:01" "00001" "2021-06-21 13:42:14" "SEQ" "DNA" "" "" ## 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 = 36 "{{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}}" "0000065293" "3" "90" "11" "88027667" "88027667" "subst" "0" "00760" "CTSC_000001" "g.88027667C>T" "" "{PMID:Erzurumluoglu 2015:25799584}, {DOI:Erzurumluoglu 2015:10.1038/jhg.2014}" "" "" "not in 512 control chromosomes" "Germline" "yes" "" "0" "" "" "g.88294499C>T" "" "pathogenic" "" "0000248259" "0" "10" "11" "88045583" "88045583" "subst" "0.883838" "02325" "CTSC_000005" "g.88045583A>G" "" "" "" "CTSC(NM_001814.4):c.458T>C (p.I153T), CTSC(NM_001814.6):c.458T>C (p.I153T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88312415A>G" "" "benign" "" "0000251705" "0" "30" "11" "88045583" "88045583" "subst" "0.883838" "02326" "CTSC_000005" "g.88045583A>G" "" "" "" "CTSC(NM_001814.4):c.458T>C (p.I153T), CTSC(NM_001814.6):c.458T>C (p.I153T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88312415A>G" "" "likely benign" "" "0000256216" "0" "50" "11" "88070803" "88070803" "subst" "0" "01943" "CTSC_000009" "g.88070803A>G" "" "" "" "CTSC(NM_148170.4):c.38T>C (p.L13P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88337635A>G" "" "VUS" "" "0000270642" "0" "30" "11" "88068256" "88068256" "subst" "0" "02326" "CTSC_000007" "g.88068256G>T" "" "" "" "CTSC(NM_001814.4):c.173-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88335088G>T" "" "likely benign" "" "0000270643" "0" "30" "11" "88045715" "88045715" "subst" "0" "02326" "CTSC_000006" "g.88045715T>C" "" "" "" "CTSC(NM_001814.4):c.326A>G (p.E109G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88312547T>C" "" "likely benign" "" "0000270644" "0" "30" "11" "88042479" "88042479" "subst" "0" "02326" "CTSC_000003" "g.88042479T>A" "" "" "" "CTSC(NM_001814.4):c.493A>T (p.N165Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88309311T>A" "" "likely benign" "" "0000270645" "0" "30" "11" "88042318" "88042318" "subst" "0" "02326" "CTSC_000002" "g.88042318T>C" "" "" "" "CTSC(NM_001814.4):c.641+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88309150T>C" "" "likely benign" "" "0000274594" "0" "10" "11" "88068256" "88068256" "subst" "0" "01943" "CTSC_000008" "g.88068256G>A" "" "" "" "CTSC(NM_148170.4):c.173-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88335088G>A" "" "benign" "" "0000274595" "0" "30" "11" "88070819" "88070819" "subst" "0" "01943" "CTSC_000010" "g.88070819G>A" "" "" "" "CTSC(NM_148170.4):c.22C>T (p.L8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88337651G>A" "" "likely benign" "" "0000274596" "0" "30" "11" "88045582" "88045582" "subst" "0" "01943" "CTSC_000004" "g.88045582T>C" "" "" "" "CTSC(NM_001814.4):c.459A>G (p.T153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88312414T>C" "" "likely benign" "" "0000546019" "0" "50" "11" "88027248" "88027248" "subst" "2.03467E-5" "01943" "CTSC_000011" "g.88027248G>A" "" "" "" "CTSC(NM_001814.4):c.1318C>T (p.R440W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88294080G>A" "" "VUS" "" "0000546021" "0" "50" "11" "88045668" "88045668" "subst" "0" "01943" "CTSC_000012" "g.88045668A>G" "" "" "" "CTSC(NM_001814.4):c.373T>C (p.W125R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88312500A>G" "" "VUS" "" "0000613776" "0" "30" "11" "88027633" "88027633" "subst" "0" "01943" "CTSC_000014" "g.88027633G>C" "" "" "" "CTSC(NM_001814.4):c.933C>G (p.A311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88294465G>C" "" "likely benign" "" "0000613777" "0" "30" "11" "88042407" "88042407" "subst" "0.000333171" "01943" "CTSC_000015" "g.88042407T>C" "" "" "" "CTSC(NM_001814.4):c.565A>G (p.T189A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88309239T>C" "" "likely benign" "" "0000622745" "0" "50" "11" "88027365" "88027365" "subst" "0.000154614" "02325" "CTSC_000013" "g.88027365C>T" "" "" "" "CTSC(NM_001814.4):c.1201G>A (p.E401K, p.(Glu401Lys)), CTSC(NM_001814.6):c.1201G>A (p.E401K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88294197C>T" "" "VUS" "" "0000622747" "0" "10" "11" "88068269" "88068269" "dup" "0" "02330" "CTSC_000016" "g.88068269dup" "" "" "" "CTSC(NM_001814.4):c.173-7dupT, CTSC(NM_148170.4):c.173-7dupT, CTSC(NM_148170.5):c.173-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88335101dup" "" "benign" "" "0000656949" "0" "30" "11" "88027420" "88027420" "subst" "0.00241156" "02326" "CTSC_000017" "g.88027420G>A" "" "" "" "CTSC(NM_001814.4):c.1146C>T (p.H382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88294252G>A" "" "likely benign" "" "0000656950" "0" "10" "11" "88068269" "88068269" "dup" "0" "01943" "CTSC_000016" "g.88068269dup" "" "" "" "CTSC(NM_001814.4):c.173-7dupT, CTSC(NM_148170.4):c.173-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88335101dup" "" "benign" "" "0000656951" "0" "30" "11" "88068269" "88068269" "dup" "0" "02326" "CTSC_000016" "g.88068269dup" "" "" "" "CTSC(NM_001814.4):c.173-7dupT, CTSC(NM_148170.4):c.173-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88335101dup" "" "likely benign" "" "0000679363" "0" "90" "11" "88045639" "88045639" "subst" "0" "02325" "CTSC_000018" "g.88045639C>T" "" "" "" "CTSC(NM_001814.6):c.402G>A (p.W134*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691211" "0" "50" "11" "88068164" "88068164" "subst" "0.000154326" "01943" "CTSC_000019" "g.88068164T>C" "" "" "" "CTSC(NM_148170.4):c.259A>G (p.I87V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723755" "0" "50" "11" "88027365" "88027365" "subst" "0.000154614" "01943" "CTSC_000013" "g.88027365C>T" "" "" "" "CTSC(NM_001814.4):c.1201G>A (p.E401K, p.(Glu401Lys)), CTSC(NM_001814.6):c.1201G>A (p.E401K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723756" "0" "30" "11" "88061372" "88061372" "subst" "9.37597E-5" "01943" "CTSC_000020" "g.88061372G>A" "" "" "" "CTSC(NM_148170.4):c.319-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000789907" "0" "50" "11" "88045626" "88045626" "subst" "2.03112E-5" "02551" "CTSC_000021" "g.88045626C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000789908" "0" "70" "11" "88029375" "88029375" "subst" "4.06204E-6" "02551" "CTSC_000022" "g.88029375C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000805459" "0" "30" "11" "88070751" "88070751" "subst" "9.26713E-5" "02326" "CTSC_000023" "g.88070751G>A" "" "" "" "CTSC(NM_001814.4):c.90C>T (p.C30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853213" "0" "50" "11" "88027247" "88027247" "subst" "4.88361E-5" "01943" "CTSC_000024" "g.88027247C>T" "" "" "" "CTSC(NM_001814.4):c.1319G>A (p.R440Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913718" "0" "30" "11" "88027365" "88027365" "subst" "0.000154614" "02326" "CTSC_000013" "g.88027365C>T" "" "" "" "CTSC(NM_001814.4):c.1201G>A (p.E401K, p.(Glu401Lys)), CTSC(NM_001814.6):c.1201G>A (p.E401K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929988" "0" "30" "11" "88027252" "88027252" "subst" "0.000537516" "02326" "CTSC_000025" "g.88027252G>A" "" "" "" "CTSC(NM_001814.4):c.1314C>T (p.Y438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966626" "0" "10" "11" "88068269" "88068269" "dup" "0" "02329" "CTSC_000016" "g.88068269dup" "" "" "" "CTSC(NM_001814.4):c.173-7dupT, CTSC(NM_148170.4):c.173-7dupT, CTSC(NM_148170.5):c.173-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000999535" "0" "50" "11" "88027365" "88027365" "subst" "0.000154614" "01804" "CTSC_000013" "g.88027365C>T" "" "" "" "CTSC(NM_001814.4):c.1201G>A (p.E401K, p.(Glu401Lys)), CTSC(NM_001814.6):c.1201G>A (p.E401K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999536" "0" "50" "11" "88070904" "88070904" "dup" "0" "01804" "CTSC_000026" "g.88070904dup" "" "" "" "CTSC(NM_001814.4):c.-64dupA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038832" "0" "90" "11" "88027665" "88027665" "subst" "3.25378E-5" "01804" "CTSC_000027" "g.88027665C>T" "" "" "" "CTSC(NM_001814.6):c.901G>A (p.(Gly301Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038833" "0" "90" "11" "88029366" "88029366" "del" "0" "02325" "CTSC_000028" "g.88029366del" "" "" "" "CTSC(NM_001814.6):c.825delC (p.N276Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038834" "0" "30" "11" "88061374" "88061374" "subst" "1.22408E-5" "01804" "CTSC_000029" "g.88061374G>A" "" "" "" "CTSC(NM_001114173.3):c.319-10C>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 CTSC ## Count = 36 "{{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}}" "0000065293" "00005866" "90" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Gly300Asp)" "7" "0000248259" "00005866" "10" "458" "0" "458" "0" "c.458=" "r.(=)" "p.(Thr153=)" "" "0000251705" "00005866" "30" "458" "0" "458" "0" "c.458=" "r.(=)" "p.(Thr153=)" "" "0000256216" "00005866" "50" "38" "0" "38" "0" "c.38T>C" "r.(?)" "p.(Leu13Pro)" "" "0000270642" "00005866" "30" "173" "-6" "173" "-6" "c.173-6C>A" "r.(=)" "p.(=)" "" "0000270643" "00005866" "30" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Glu109Gly)" "" "0000270644" "00005866" "30" "493" "0" "493" "0" "c.493A>T" "r.(?)" "p.(Asn165Tyr)" "" "0000270645" "00005866" "30" "641" "13" "641" "13" "c.641+13A>G" "r.(=)" "p.(=)" "" "0000274594" "00005866" "10" "173" "-6" "173" "-6" "c.173-6C>T" "r.(=)" "p.(=)" "" "0000274595" "00005866" "30" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Leu8=)" "" "0000274596" "00005866" "30" "459" "0" "459" "0" "c.459A>G" "r.(?)" "p.(Thr153=)" "" "0000546019" "00005866" "50" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440Trp)" "" "0000546021" "00005866" "50" "373" "0" "373" "0" "c.373T>C" "r.(?)" "p.(Trp125Arg)" "" "0000613776" "00005866" "30" "933" "0" "933" "0" "c.933C>G" "r.(?)" "p.(Ala311=)" "" "0000613777" "00005866" "30" "565" "0" "565" "0" "c.565A>G" "r.(?)" "p.(Thr189Ala)" "" "0000622745" "00005866" "50" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Glu401Lys)" "" "0000622747" "00005866" "10" "173" "-7" "173" "-7" "c.173-7dup" "r.(=)" "p.(=)" "" "0000656949" "00005866" "30" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "p.(His382=)" "" "0000656950" "00005866" "10" "173" "-7" "173" "-7" "c.173-7dup" "r.(=)" "p.(=)" "" "0000656951" "00005866" "30" "173" "-7" "173" "-7" "c.173-7dup" "r.(=)" "p.(=)" "" "0000679363" "00005866" "90" "402" "0" "402" "0" "c.402G>A" "r.(?)" "p.(Trp134Ter)" "" "0000691211" "00005866" "50" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Ile87Val)" "" "0000723755" "00005866" "50" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Glu401Lys)" "" "0000723756" "00005866" "30" "318" "6733" "318" "6733" "c.318+6733C>T" "r.(=)" "p.(=)" "" "0000789907" "00005866" "50" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Gly139Arg)" "" "0000789908" "00005866" "70" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272His)" "" "0000805459" "00005866" "30" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(Cys30=)" "" "0000853213" "00005866" "50" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "" "0000913718" "00005866" "30" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Glu401Lys)" "" "0000929988" "00005866" "30" "1314" "0" "1314" "0" "c.1314C>T" "r.(?)" "p.(=)" "" "0000966626" "00005866" "10" "173" "-7" "173" "-7" "c.173-7dup" "r.(=)" "p.(=)" "" "0000999535" "00005866" "50" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Glu401Lys)" "" "0000999536" "00005866" "50" "-64" "0" "-64" "0" "c.-64dup" "r.(?)" "p.(=)" "" "0001038832" "00005866" "90" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Ser)" "" "0001038833" "00005866" "90" "825" "0" "825" "0" "c.825del" "r.(?)" "p.(Asn276Thrfs*8)" "" "0001038834" "00005866" "30" "318" "6731" "318" "6731" "c.318+6731C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000037983" "0000065293" "0000377534" "0000789907" "0000377534" "0000789908"