### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STK36) # 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}}" "STK36" "serine/threonine kinase 36" "2" "q35" "unknown" "NG_029739.1" "UD_134712286670" "" "https://www.LOVD.nl/STK36" "" "1" "17209" "27148" "607652" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/STK36_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-05-05 14:03:29" "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}}" "00024252" "STK36" "transcript variant 1" "001" "NM_015690.4" "" "NP_056505.2" "" "" "" "-279" "4656" "3948" "219536749" "219567440" "00006" "2017-05-05 14:02:27" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00103983" "" "" "" "1" "" "01964" "" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00103983" "00332" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00332 ## Count = 1 "{{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}}" "0000081919" "00332" "00103983" "01964" "Unknown" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104453" "00103983" "1" "01964" "01964" "2017-05-04 17:26:42" "" "" "SEQ-NG" "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 = 45 "{{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}}" "0000169196" "0" "90" "2" "219553438" "219553438" "del" "0" "01964" "STK36_000001" "g.219553438del" "" "" "" "NM_001243313.1:c.1399delG" "" "Germline" "-" "" "0" "" "" "g.218688715del" "" "pathogenic" "" "0000249678" "0" "90" "2" "219525942" "219525942" "subst" "0.000499468" "02325" "BCS1L_000003" "g.219525942A>G" "" "" "" "BCS1L(NM_004328.5):c.232A>G (p.S78G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218661219A>G" "" "pathogenic" "" "0000259715" "0" "50" "2" "219526620" "219526620" "subst" "0" "02325" "BCS1L_000012" "g.219526620G>A" "" "" "" "BCS1L(NM_004328.5):c.599G>A (p.R200Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218661897G>A" "" "VUS" "" "0000260374" "0" "70" "2" "219525915" "219525915" "subst" "6.90322E-5" "02329" "BCS1L_000008" "g.219525915C>T" "" "" "" "BCS1L(NM_004328.4):c.205C>T (p.R69C), BCS1L(NM_004328.5):c.205C>T (p.R69C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218661192C>T" "" "likely pathogenic" "" "0000260375" "0" "90" "2" "219526499" "219526499" "subst" "4.07302E-6" "02329" "BCS1L_000010" "g.219526499C>T" "" "" "" "BCS1L(NM_004328.5):c.478C>T (p.Q160*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218661776C>T" "" "pathogenic" "" "0000315857" "0" "30" "2" "219545347" "219545347" "subst" "0.00334455" "01943" "STK36_000003" "g.219545347T>C" "" "" "" "STK36(NM_015690.4):c.1158T>C (p.D386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218680624T>C" "" "likely benign" "" "0000315858" "0" "50" "2" "219553528" "219553528" "subst" "0.000598003" "01943" "STK36_000004" "g.219553528C>G" "" "" "" "STK36(NM_015690.4):c.1489C>G (p.R497G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218688805C>G" "" "VUS" "" "0000315859" "0" "50" "2" "219566715" "219566715" "subst" "0" "01943" "STK36_000005" "g.219566715C>G" "" "" "" "STK36(NM_015690.4):c.3931C>G (p.P1311A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218701992C>G" "" "VUS" "" "0000315860" "0" "30" "2" "219544654" "219544654" "subst" "3.65946E-5" "01943" "STK36_000002" "g.219544654C>T" "" "" "" "STK36(NM_015690.4):c.987C>T (p.D329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218679931C>T" "" "likely benign" "" "0000328090" "0" "50" "2" "219527309" "219527309" "subst" "2.84407E-5" "01804" "BCS1L_000013" "g.219527309C>T" "" "" "" "BCS1L(NM_001079866.1):c.796C>T (p.(Leu266Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218662586C>T" "" "VUS" "" "0000514585" "0" "90" "2" "219526207" "219526207" "del" "0" "01943" "BCS1L_000015" "g.219526207del" "" "" "" "BCS1L(NM_004328.4):c.399delA (p.E133Dfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218661484del" "" "pathogenic" "" "0000514586" "0" "10" "2" "219526634" "219526634" "subst" "0.00758831" "01943" "BCS1L_000016" "g.219526634G>A" "" "" "" "BCS1L(NM_004328.4):c.613G>A (p.V205I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218661911G>A" "" "benign" "" "0000514588" "0" "30" "2" "219527326" "219527326" "subst" "6.50063E-5" "01943" "BCS1L_000018" "g.219527326C>T" "" "" "" "BCS1L(NM_004328.4):c.813C>T (p.S271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218662603C>T" "" "likely benign" "" "0000514589" "0" "70" "2" "219527657" "219527657" "del" "0" "01943" "BCS1L_000019" "g.219527657del" "" "" "" "BCS1L(NM_004328.4):c.941delA (p.N314Mfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218662934del" "" "likely pathogenic" "" "0000514590" "0" "90" "2" "219527906" "219527906" "subst" "1.62443E-5" "02329" "BCS1L_000020" "g.219527906G>A" "" "" "" "BCS1L(NM_004328.5):c.1057G>A (p.V353M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218663183G>A" "" "pathogenic" "" "0000514591" "0" "50" "2" "219529903" "219529905" "del" "0" "01804" "BCS1L_000021" "g.219529903_219529905del" "" "" "" "RNF25(NM_022453.2):c.642_644del (p.(Ala215del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218665180_218665182del" "" "VUS" "" "0000514592" "0" "30" "2" "219529924" "219529924" "subst" "0.00342747" "01804" "BCS1L_000022" "g.219529924T>G" "" "" "" "RNF25(NM_022453.2):c.620A>C (p.(Tyr207Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218665201T>G" "" "likely benign" "" "0000607486" "0" "50" "2" "219525808" "219525808" "subst" "2.43673E-5" "02327" "BCS1L_000023" "g.219525808G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218661085G>A" "" "VUS" "" "0000607487" "0" "90" "2" "219526484" "219526484" "subst" "1.22494E-5" "02327" "BCS1L_000024" "g.219526484C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218661761C>T" "" "pathogenic" "" "0000607488" "0" "30" "2" "219527893" "219527893" "subst" "0.000170601" "01943" "BCS1L_000025" "g.219527893C>T" "" "" "" "BCS1L(NM_004328.4):c.1044C>T (p.D348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218663170C>T" "" "likely benign" "" "0000607489" "0" "30" "2" "219527934" "219527934" "subst" "4.06065E-6" "01943" "BCS1L_000026" "g.219527934C>G" "" "" "" "BCS1L(NM_004328.4):c.1085C>G (p.T362S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218663211C>G" "" "likely benign" "" "0000676506" "0" "30" "2" "219525911" "219525911" "subst" "0.000129958" "01943" "BCS1L_000029" "g.219525911C>T" "" "" "" "BCS1L(NM_004328.4):c.201C>T (p.L67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676507" "0" "70" "2" "219526238" "219526238" "subst" "0" "01943" "BCS1L_000030" "g.219526238C>T" "" "" "" "BCS1L(NM_004328.4):c.430C>T (p.R144*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000676508" "0" "30" "2" "219526966" "219526966" "subst" "0.000105603" "01943" "BCS1L_000031" "g.219526966C>T" "" "" "" "BCS1L(NM_004328.4):c.702C>T (p.C234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688641" "0" "50" "2" "219527728" "219527728" "subst" "6.4973E-5" "01943" "BCS1L_000032" "g.219527728G>A" "" "" "" "BCS1L(NM_004328.4):c.1007+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718479" "0" "70" "2" "219525978" "219525978" "subst" "1.21819E-5" "02329" "BCS1L_000009" "g.219525978C>T" "" "" "" "BCS1L(NM_004328.5):c.268C>T (p.R90C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718480" "0" "70" "2" "219526193" "219526193" "subst" "0" "01943" "BCS1L_000033" "g.219526193G>A" "" "" "" "BCS1L(NM_004328.4):c.385G>A (p.G129R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718481" "0" "90" "2" "219526577" "219526577" "subst" "1.2187E-5" "02329" "BCS1L_000011" "g.219526577C>T" "" "" "" "BCS1L(NM_004328.5):c.556C>T (p.R186*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800378" "0" "30" "2" "219527715" "219527715" "subst" "2.03039E-5" "01943" "BCS1L_000034" "g.219527715C>T" "" "" "" "BCS1L(NM_004328.4):c.999C>T (p.H333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800379" "0" "30" "2" "219553458" "219553458" "subst" "0.000207633" "01943" "RNF25_000003" "g.219553458G>A" "" "" "" "STK36(NM_015690.4):c.1419G>A (p.L473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800380" "0" "50" "2" "219563671" "219563671" "subst" "4.48632E-5" "01943" "RNF25_000004" "g.219563671A>C" "" "" "" "STK36(NM_015690.4):c.3404A>C (p.H1135P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849714" "0" "50" "2" "219525927" "219525927" "subst" "0.000146182" "01943" "BCS1L_000035" "g.219525927C>T" "" "" "" "BCS1L(NM_004328.4):c.217C>T (p.R73C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849715" "0" "50" "2" "219527288" "219527288" "subst" "0.000312834" "01943" "BCS1L_000037" "g.219527288T>A" "" "" "" "BCS1L(NM_004328.4):c.775T>A (p.S259T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849716" "0" "50" "2" "219554661" "219554661" "subst" "0" "01943" "RNF25_000005" "g.219554661G>A" "" "" "" "STK36(NM_015690.4):c.1640G>A (p.R547K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849717" "0" "30" "2" "219557313" "219557313" "subst" "5.32538E-5" "01943" "RNF25_000006" "g.219557313G>T" "" "" "" "STK36(NM_015690.4):c.1923G>T (p.P641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858319" "0" "50" "2" "219526148" "219526148" "subst" "8.12117E-5" "01943" "BCS1L_000036" "g.219526148C>T" "" "" "" "BCS1L(NM_004328.4):c.340C>T (p.R114W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884874" "0" "30" "2" "219527893" "219527893" "subst" "0.000170601" "02326" "BCS1L_000025" "g.219527893C>T" "" "" "" "BCS1L(NM_004328.4):c.1044C>T (p.D348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911576" "0" "50" "2" "219526232" "219526232" "subst" "0" "02327" "BCS1L_000038" "g.219526232A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911577" "0" "10" "2" "219527712" "219527712" "subst" "0.0428903" "02325" "BCS1L_000039" "g.219527712C>T" "" "" "" "BCS1L(NM_004328.5):c.996C>T (p.N332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911578" "0" "10" "2" "219527739" "219527739" "subst" "0.00320823" "02326" "BCS1L_000040" "g.219527739G>A" "" "" "" "BCS1L(NM_004328.4):c.1007+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911579" "0" "10" "2" "219527866" "219527866" "subst" "0.0703526" "02325" "BCS1L_000041" "g.219527866T>C" "" "" "" "BCS1L(NM_004328.5):c.1017T>C (p.P339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923612" "0" "90" "2" "219525915" "219525915" "subst" "6.90322E-5" "02326" "BCS1L_000008" "g.219525915C>T" "" "" "" "BCS1L(NM_004328.4):c.205C>T (p.R69C), BCS1L(NM_004328.5):c.205C>T (p.R69C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974967" "0" "70" "2" "219526568" "219526568" "subst" "1.21867E-5" "02327" "BCS1L_000042" "g.219526568C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000974968" "0" "50" "2" "219557017" "219557017" "subst" "0.00012621" "01804" "RNF25_000007" "g.219557017G>A" "" "" "" "STK36(NM_015690.5):c.1915+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032979" "0" "50" "2" "219525839" "219525839" "subst" "4.06101E-6" "01804" "BCS1L_000043" "g.219525839C>A" "" "" "" "BCS1L(NM_001079866.2):c.129C>A (p.(Phe43Leu))" "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 STK36 ## Count = 45 "{{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}}" "0000169196" "00024252" "00" "1399" "0" "1399" "0" "c.1399del" "r.1399del" "p.(Glu467Argfs*13)" "12" "0000249678" "00024252" "90" "-11086" "0" "-11086" "0" "c.-11086A>G" "r.(?)" "p.(=)" "" "0000259715" "00024252" "50" "-10408" "0" "-10408" "0" "c.-10408G>A" "r.(?)" "p.(=)" "" "0000260374" "00024252" "70" "-11113" "0" "-11113" "0" "c.-11113C>T" "r.(?)" "p.(=)" "" "0000260375" "00024252" "90" "-10529" "0" "-10529" "0" "c.-10529C>T" "r.(?)" "p.(=)" "" "0000315857" "00024252" "30" "1158" "0" "1158" "0" "c.1158T>C" "r.(?)" "p.(Asp386=)" "" "0000315858" "00024252" "50" "1489" "0" "1489" "0" "c.1489C>G" "r.(?)" "p.(Arg497Gly)" "" "0000315859" "00024252" "50" "3931" "0" "3931" "0" "c.3931C>G" "r.(?)" "p.(Pro1311Ala)" "" "0000315860" "00024252" "30" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Asp329=)" "" "0000328090" "00024252" "50" "-9719" "0" "-9719" "0" "c.-9719C>T" "r.(?)" "p.(=)" "" "0000514585" "00024252" "90" "-10821" "0" "-10821" "0" "c.-10821del" "r.(?)" "p.(=)" "" "0000514586" "00024252" "10" "-10394" "0" "-10394" "0" "c.-10394G>A" "r.(?)" "p.(=)" "" "0000514588" "00024252" "30" "-9702" "0" "-9702" "0" "c.-9702C>T" "r.(?)" "p.(=)" "" "0000514589" "00024252" "70" "-9371" "0" "-9371" "0" "c.-9371del" "r.(?)" "p.(=)" "" "0000514590" "00024252" "90" "-9122" "0" "-9122" "0" "c.-9122G>A" "r.(?)" "p.(=)" "" "0000514591" "00024252" "50" "-7125" "0" "-7123" "0" "c.-7125_-7123del" "r.(?)" "p.(=)" "" "0000514592" "00024252" "30" "-7104" "0" "-7104" "0" "c.-7104T>G" "r.(?)" "p.(=)" "" "0000607486" "00024252" "50" "-11220" "0" "-11220" "0" "c.-11220G>A" "r.(?)" "p.(=)" "" "0000607487" "00024252" "90" "-10544" "0" "-10544" "0" "c.-10544C>T" "r.(?)" "p.(=)" "" "0000607488" "00024252" "30" "-9135" "0" "-9135" "0" "c.-9135C>T" "r.(?)" "p.(=)" "" "0000607489" "00024252" "30" "-9094" "0" "-9094" "0" "c.-9094C>G" "r.(?)" "p.(=)" "" "0000676506" "00024252" "30" "-11117" "0" "-11117" "0" "c.-11117C>T" "r.(?)" "p.(=)" "" "0000676507" "00024252" "70" "-10790" "0" "-10790" "0" "c.-10790C>T" "r.(?)" "p.(=)" "" "0000676508" "00024252" "30" "-10062" "0" "-10062" "0" "c.-10062C>T" "r.(?)" "p.(=)" "" "0000688641" "00024252" "50" "-9300" "0" "-9300" "0" "c.-9300G>A" "r.(?)" "p.(=)" "" "0000718479" "00024252" "70" "-11050" "0" "-11050" "0" "c.-11050C>T" "r.(?)" "p.(=)" "" "0000718480" "00024252" "70" "-10835" "0" "-10835" "0" "c.-10835G>A" "r.(?)" "p.(=)" "" "0000718481" "00024252" "90" "-10451" "0" "-10451" "0" "c.-10451C>T" "r.(?)" "p.(=)" "" "0000800378" "00024252" "30" "-9313" "0" "-9313" "0" "c.-9313C>T" "r.(?)" "p.(=)" "" "0000800379" "00024252" "30" "1419" "0" "1419" "0" "c.1419G>A" "r.(?)" "p.(Leu473=)" "" "0000800380" "00024252" "50" "3404" "0" "3404" "0" "c.3404A>C" "r.(?)" "p.(His1135Pro)" "" "0000849714" "00024252" "50" "-11101" "0" "-11101" "0" "c.-11101C>T" "r.(?)" "p.(=)" "" "0000849715" "00024252" "50" "-9740" "0" "-9740" "0" "c.-9740T>A" "r.(?)" "p.(=)" "" "0000849716" "00024252" "50" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Arg547Lys)" "" "0000849717" "00024252" "30" "1923" "0" "1923" "0" "c.1923G>T" "r.(?)" "p.(Pro641=)" "" "0000858319" "00024252" "50" "-10880" "0" "-10880" "0" "c.-10880C>T" "r.(?)" "p.(=)" "" "0000884874" "00024252" "30" "-9135" "0" "-9135" "0" "c.-9135C>T" "r.(?)" "p.(=)" "" "0000911576" "00024252" "50" "-10796" "0" "-10796" "0" "c.-10796A>G" "r.(?)" "p.(=)" "" "0000911577" "00024252" "10" "-9316" "0" "-9316" "0" "c.-9316C>T" "r.(?)" "p.(=)" "" "0000911578" "00024252" "10" "-9289" "0" "-9289" "0" "c.-9289G>A" "r.(?)" "p.(=)" "" "0000911579" "00024252" "10" "-9162" "0" "-9162" "0" "c.-9162T>C" "r.(?)" "p.(=)" "" "0000923612" "00024252" "90" "-11113" "0" "-11113" "0" "c.-11113C>T" "r.(?)" "p.(=)" "" "0000974967" "00024252" "70" "-10460" "0" "-10460" "0" "c.-10460C>T" "r.(?)" "p.(=)" "" "0000974968" "00024252" "50" "1915" "1" "1915" "1" "c.1915+1G>A" "r.spl?" "p.?" "" "0001032979" "00024252" "50" "-11189" "0" "-11189" "0" "c.-11189C>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000104453" "0000169196"