### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADAMTS3) # 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}}" "ADAMTS3" "ADAM metallopeptidase with thrombospondin type 1 motif, 3" "4" "q21" "unknown" "NG_046955.1" "UD_132463841064" "" "https://www.LOVD.nl/ADAMTS3" "" "1" "219" "9508" "605011" "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/ADAMTS3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-05-09 16:32:36" "00006" "2025-09-05 10:32:58" ## 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}}" "00002091" "ADAMTS3" "ADAM metallopeptidase with thrombospondin type 1 motif, 3" "001" "NM_014243.2" "" "NP_055058.2" "" "" "" "-37" "5785" "3618" "73434516" "73146686" "" "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}}" "06638" "HKLLS3" "Hennekam lymphangiectasia-lymphedema syndrome, type 3" "AR" "618154" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2024-12-10 16:06:07" "07140" "HKLLS" "Hennekam lymphangiectasia-lymphedema syndrome" "" "" "" "" "" "00006" "2024-12-10 16:09:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ADAMTS3" "06638" ## 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}}" "00458247" "" "" "" "2" "" "03670" "{DOI:Igarashi 2025:10.1136/bmjccgg-2024-000006}" "2-generation family, 2 affected sisters" "F" "no" "Japan" ">20y" "0" "" "" "" "FamPatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00458247" "07140" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 06638, 07140 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000346683" "06638" "00458247" "03670" "Familial, autosomal recessive" "" "see paper; ..., lymphedema" "" "" "" "" "" "" "HKLLS3" "lymphedema" ## 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}}" "0000459869" "00458247" "1" "03670" "03670" "2024-12-10 03:48:30" "00006" "2024-12-10 16:01:14" "SEQ-NG-I" "DNA" "blood" "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 = 44 "{{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}}" "0000178786" "10" "99" "4" "73179445" "73179445" "subst" "0.00214674" "01829" "ADAMTS3_000003" "g.73179445C>T" "" "{PMID:Jha et al., 2017:28687807}" "" "R565Q" "" "Germline" "yes" "rs141374503" "0" "" "" "g.72313728C>T" "" "pathogenic" "" "0000523089" "0" "30" "4" "73205360" "73205360" "subst" "4.07203E-6" "01943" "ADAMTS3_000004" "g.73205360G>C" "" "" "" "ADAMTS3(NM_014243.2):c.712C>G (p.H238D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72339643G>C" "" "likely benign" "" "0000609286" "0" "30" "4" "73149182" "73149182" "subst" "0.000675445" "01943" "ADAMTS3_000005" "g.73149182G>A" "" "" "" "ADAMTS3(NM_014243.2):c.3289C>T (p.P1097S, p.(Pro1097Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72283465G>A" "" "likely benign" "" "0000609287" "0" "50" "4" "73179445" "73179445" "subst" "0.00214674" "01943" "ADAMTS3_000003" "g.73179445C>T" "" "" "" "ADAMTS3(NM_014243.2):c.1694G>A (p.R565Q, p.(Arg565Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72313728C>T" "" "VUS" "" "0000609288" "0" "50" "4" "73414482" "73414482" "subst" "0.000101735" "01943" "ADAMTS3_000006" "g.73414482C>T" "" "" "" "ADAMTS3(NM_014243.2):c.217G>A (p.V73M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72548765C>T" "" "VUS" "" "0000655176" "0" "30" "4" "73148867" "73148867" "subst" "0" "01943" "ADAMTS3_000007" "g.73148867T>C" "" "" "" "ADAMTS3(NM_014243.2):c.3604A>G (p.T1202A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72283150T>C" "" "likely benign" "" "0000655177" "0" "10" "4" "73149251" "73149251" "subst" "0.00544791" "02330" "ADAMTS3_000008" "g.73149251A>G" "" "" "" "ADAMTS3(NM_014243.3):c.3220T>C (p.S1074P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72283534A>G" "" "benign" "" "0000655178" "0" "10" "4" "73156678" "73156678" "subst" "0.0024374" "02330" "ADAMTS3_000009" "g.73156678T>C" "" "" "" "ADAMTS3(NM_014243.2):c.2825A>G (p.N942S, p.(Asn942Ser)), ADAMTS3(NM_014243.3):c.2825A>G (p.N942S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72290961T>C" "" "benign" "" "0000655179" "0" "30" "4" "73175202" "73175202" "subst" "4.07123E-5" "02330" "ADAMTS3_000010" "g.73175202C>T" "" "" "" "ADAMTS3(NM_014243.3):c.2091G>A (p.K697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72309485C>T" "" "likely benign" "" "0000655180" "0" "10" "4" "73178175" "73178175" "subst" "0.0103418" "02330" "ADAMTS3_000011" "g.73178175T>C" "" "" "" "ADAMTS3(NM_014243.2):c.1754A>G (p.(Asn585Ser)), ADAMTS3(NM_014243.3):c.1754A>G (p.N585S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72312458T>C" "" "benign" "" "0000655181" "0" "10" "4" "73178202" "73178202" "subst" "0.0403325" "02330" "ADAMTS3_000012" "g.73178202T>G" "" "" "" "ADAMTS3(NM_014243.3):c.1746-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72312485T>G" "" "benign" "" "0000655182" "0" "10" "4" "73181564" "73181564" "subst" "0.0203499" "02330" "ADAMTS3_000013" "g.73181564G>T" "" "" "" "ADAMTS3(NM_014243.3):c.1599+11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72315847G>T" "" "benign" "" "0000655183" "0" "10" "4" "73181637" "73181637" "subst" "0.0161135" "02330" "ADAMTS3_000014" "g.73181637G>T" "" "" "" "ADAMTS3(NM_014243.3):c.1537C>A (p.P513T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72315920G>T" "" "benign" "" "0000655184" "0" "50" "4" "73184290" "73184290" "subst" "2.85556E-5" "01943" "ADAMTS3_000015" "g.73184290G>A" "" "" "" "ADAMTS3(NM_014243.2):c.1484C>T (p.A495V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72318573G>A" "" "VUS" "" "0000655185" "0" "10" "4" "73185119" "73185119" "subst" "0.00783322" "02330" "ADAMTS3_000016" "g.73185119A>G" "" "" "" "ADAMTS3(NM_014243.3):c.1282T>C (p.L428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72319402A>G" "" "benign" "" "0000655186" "0" "10" "4" "73185147" "73185147" "subst" "0.00691437" "02330" "ADAMTS3_000017" "g.73185147C>T" "" "" "" "ADAMTS3(NM_014243.3):c.1254G>A (p.E418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72319430C>T" "" "benign" "" "0000655187" "0" "10" "4" "73205253" "73205253" "subst" "0.0109735" "02330" "ADAMTS3_000018" "g.73205253G>T" "" "" "" "ADAMTS3(NM_014243.3):c.819C>A (p.G273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72339536G>T" "" "benign" "" "0000655188" "0" "10" "4" "73414286" "73414286" "subst" "0.59447" "02330" "ADAMTS3_000019" "g.73414286C>T" "" "" "" "ADAMTS3(NM_014243.3):c.413G>A (p.R138K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72548569C>T" "" "benign" "" "0000655189" "0" "10" "4" "73433125" "73433125" "del" "0" "02330" "ADAMTS3_000020" "g.73433125del" "" "" "" "ADAMTS3(NM_014243.3):c.70-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72567408del" "" "benign" "" "0000689338" "0" "30" "4" "73156678" "73156678" "subst" "0.0024374" "01943" "ADAMTS3_000009" "g.73156678T>C" "" "" "" "ADAMTS3(NM_014243.2):c.2825A>G (p.N942S, p.(Asn942Ser)), ADAMTS3(NM_014243.3):c.2825A>G (p.N942S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689339" "0" "30" "4" "73169666" "73169666" "subst" "2.03452E-5" "01804" "ADAMTS3_000021" "g.73169666C>T" "" "" "" "ADAMTS3(NM_014243.2):c.2392G>A (p.D798N, p.(Asp798Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689340" "0" "30" "4" "73185054" "73185054" "subst" "0.00200153" "01943" "ADAMTS3_000022" "g.73185054A>G" "" "" "" "ADAMTS3(NM_014243.2):c.1347T>C (p.Y449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689341" "0" "50" "4" "73414418" "73414418" "subst" "8.53506E-5" "01804" "ADAMTS3_000023" "g.73414418C>T" "" "" "" "ADAMTS3(NM_014243.2):c.281G>A (p.(Arg94Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719982" "0" "50" "4" "73156685" "73156685" "subst" "1.62748E-5" "01943" "ADAMTS3_000024" "g.73156685C>A" "" "" "" "ADAMTS3(NM_014243.2):c.2818G>T (p.G940C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719983" "0" "30" "4" "73178175" "73178175" "subst" "0.0103418" "01804" "ADAMTS3_000011" "g.73178175T>C" "" "" "" "ADAMTS3(NM_014243.2):c.1754A>G (p.(Asn585Ser)), ADAMTS3(NM_014243.3):c.1754A>G (p.N585S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719984" "0" "30" "4" "73178188" "73178188" "subst" "0.00104264" "01943" "ADAMTS3_000025" "g.73178188A>C" "" "" "" "ADAMTS3(NM_014243.2):c.1746-5T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719985" "0" "30" "4" "73434423" "73434423" "subst" "0.000134089" "01943" "ADAMTS3_000026" "g.73434423T>C" "" "" "" "ADAMTS3(NM_014243.2):c.57A>G (p.S19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801700" "0" "50" "4" "73185672" "73185672" "subst" "2.4424E-5" "01804" "ADAMTS3_000027" "g.73185672G>A" "" "" "" "ADAMTS3(NM_014243.2):c.1111C>T (p.(Pro371Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801701" "0" "10" "4" "73188818" "73188818" "subst" "0.00186221" "02330" "ADAMTS3_000028" "g.73188818G>A" "" "" "" "ADAMTS3(NM_014243.3):c.862-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801702" "0" "10" "4" "73188819" "73188819" "subst" "0.00186346" "02330" "ADAMTS3_000029" "g.73188819C>A" "" "" "" "ADAMTS3(NM_014243.3):c.862-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859568" "0" "50" "4" "73169666" "73169666" "subst" "2.03452E-5" "01943" "ADAMTS3_000021" "g.73169666C>T" "" "" "" "ADAMTS3(NM_014243.2):c.2392G>A (p.D798N, p.(Asp798Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859569" "0" "30" "4" "73179445" "73179445" "subst" "0.00214674" "01804" "ADAMTS3_000003" "g.73179445C>T" "" "" "" "ADAMTS3(NM_014243.2):c.1694G>A (p.R565Q, p.(Arg565Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886366" "0" "30" "4" "73149182" "73149182" "subst" "0.000675445" "01804" "ADAMTS3_000005" "g.73149182G>A" "" "" "" "ADAMTS3(NM_014243.2):c.3289C>T (p.P1097S, p.(Pro1097Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886367" "0" "30" "4" "73156678" "73156678" "subst" "0.0024374" "01804" "ADAMTS3_000009" "g.73156678T>C" "" "" "" "ADAMTS3(NM_014243.2):c.2825A>G (p.N942S, p.(Asn942Ser)), ADAMTS3(NM_014243.3):c.2825A>G (p.N942S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886368" "0" "30" "4" "73161428" "73161428" "subst" "3.25494E-5" "01804" "ADAMTS3_000030" "g.73161428T>C" "" "" "" "ADAMTS3(NM_014243.2):c.2666A>G (p.(Asn889Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886369" "0" "30" "4" "73179433" "73179433" "subst" "2.85249E-5" "01804" "ADAMTS3_000031" "g.73179433G>A" "" "" "" "ADAMTS3(NM_014243.2):c.1706C>T (p.(Thr569Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924154" "0" "30" "4" "73178188" "73178188" "subst" "0.00104264" "01804" "ADAMTS3_000025" "g.73178188A>C" "" "" "" "ADAMTS3(NM_014243.2):c.1746-5T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928935" "0" "30" "4" "73149167" "73149167" "subst" "0" "01804" "ADAMTS3_000032" "g.73149167A>T" "" "" "" "ADAMTS3(NM_014243.2):c.3304T>A (p.(Ser1102Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963231" "0" "30" "4" "73149028" "73149028" "subst" "0.00212222" "01804" "ADAMTS3_000033" "g.73149028G>A" "" "" "" "ADAMTS3(NM_014243.2):c.3443C>T (p.(Pro1148Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976352" "0" "50" "4" "73414406" "73414406" "subst" "0.00016661" "01804" "ADAMTS3_000034" "g.73414406T>C" "" "" "" "ADAMTS3(NM_014243.3):c.293A>G (p.(Asn98Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001018807" "10" "90" "4" "73185044" "73185044" "subst" "0" "03670" "ADAMTS3_000035" "g.73185044C>A" "" "{DOI:Igarashi 2025:10.1136/bmjccgg-2024-000006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.72319327C>A" "" "pathogenic (recessive)" "ACMG" "0001018808" "21" "90" "4" "73379216" "73686736" "del" "0" "03670" "ADAMTS3_000036" "g.73379216_73686736del" "" "{DOI:Igarashi 2025:10.1136/bmjccgg-2024-000006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.72513499_72821019del" "" "pathogenic" "ACMG" "0001034659" "0" "30" "4" "73188822" "73188822" "subst" "0" "01804" "ADAMTS3_000037" "g.73188822C>T" "" "" "" "ADAMTS3(NM_014243.3):c.862-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046949" "0" "50" "4" "73156565" "73156565" "subst" "7.76379E-5" "03779" "ADAMTS3_000038" "g.73156565C>T" "" "" "" "" "" "Unknown" "" "rs761319867" "0" "" "" "" "" "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 ADAMTS3 ## Count = 44 "{{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}}" "0000178786" "00002091" "99" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Arg565Gln)" "12" "0000523089" "00002091" "30" "712" "0" "712" "0" "c.712C>G" "r.(?)" "p.(His238Asp)" "" "0000609286" "00002091" "30" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Pro1097Ser)" "" "0000609287" "00002091" "50" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Arg565Gln)" "" "0000609288" "00002091" "50" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Val73Met)" "" "0000655176" "00002091" "30" "3604" "0" "3604" "0" "c.3604A>G" "r.(?)" "p.(Thr1202Ala)" "" "0000655177" "00002091" "10" "3220" "0" "3220" "0" "c.3220T>C" "r.(?)" "p.(Ser1074Pro)" "" "0000655178" "00002091" "10" "2825" "0" "2825" "0" "c.2825A>G" "r.(?)" "p.(Asn942Ser)" "" "0000655179" "00002091" "30" "2091" "0" "2091" "0" "c.2091G>A" "r.(?)" "p.(Lys697=)" "" "0000655180" "00002091" "10" "1754" "0" "1754" "0" "c.1754A>G" "r.(?)" "p.(Asn585Ser)" "" "0000655181" "00002091" "10" "1746" "-19" "1746" "-19" "c.1746-19A>C" "r.(=)" "p.(=)" "" "0000655182" "00002091" "10" "1599" "11" "1599" "11" "c.1599+11C>A" "r.(=)" "p.(=)" "" "0000655183" "00002091" "10" "1537" "0" "1537" "0" "c.1537C>A" "r.(?)" "p.(Pro513Thr)" "" "0000655184" "00002091" "50" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "" "0000655185" "00002091" "10" "1282" "0" "1282" "0" "c.1282T>C" "r.(?)" "p.(Leu428=)" "" "0000655186" "00002091" "10" "1254" "0" "1254" "0" "c.1254G>A" "r.(?)" "p.(Glu418=)" "" "0000655187" "00002091" "10" "819" "0" "819" "0" "c.819C>A" "r.(?)" "p.(Gly273=)" "" "0000655188" "00002091" "10" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Lys)" "" "0000655189" "00002091" "10" "70" "-5" "70" "-5" "c.70-5del" "r.spl?" "p.?" "" "0000689338" "00002091" "30" "2825" "0" "2825" "0" "c.2825A>G" "r.(?)" "p.(Asn942Ser)" "" "0000689339" "00002091" "30" "2392" "0" "2392" "0" "c.2392G>A" "r.(?)" "p.(Asp798Asn)" "" "0000689340" "00002091" "30" "1347" "0" "1347" "0" "c.1347T>C" "r.(?)" "p.(Tyr449=)" "" "0000689341" "00002091" "50" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94Gln)" "" "0000719982" "00002091" "50" "2818" "0" "2818" "0" "c.2818G>T" "r.(?)" "p.(Gly940Cys)" "" "0000719983" "00002091" "30" "1754" "0" "1754" "0" "c.1754A>G" "r.(?)" "p.(Asn585Ser)" "" "0000719984" "00002091" "30" "1746" "-5" "1746" "-5" "c.1746-5T>G" "r.spl?" "p.?" "" "0000719985" "00002091" "30" "57" "0" "57" "0" "c.57A>G" "r.(?)" "p.(Ser19=)" "" "0000801700" "00002091" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Pro371Ser)" "" "0000801701" "00002091" "10" "862" "-4" "862" "-4" "c.862-4C>T" "r.spl?" "p.?" "" "0000801702" "00002091" "10" "862" "-5" "862" "-5" "c.862-5G>T" "r.spl?" "p.?" "" "0000859568" "00002091" "50" "2392" "0" "2392" "0" "c.2392G>A" "r.(?)" "p.(Asp798Asn)" "" "0000859569" "00002091" "30" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Arg565Gln)" "" "0000886366" "00002091" "30" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Pro1097Ser)" "" "0000886367" "00002091" "30" "2825" "0" "2825" "0" "c.2825A>G" "r.(?)" "p.(Asn942Ser)" "" "0000886368" "00002091" "30" "2666" "0" "2666" "0" "c.2666A>G" "r.(?)" "p.(Asn889Ser)" "" "0000886369" "00002091" "30" "1706" "0" "1706" "0" "c.1706C>T" "r.(?)" "p.(Thr569Ile)" "" "0000924154" "00002091" "30" "1746" "-5" "1746" "-5" "c.1746-5T>G" "r.spl?" "p.?" "" "0000928935" "00002091" "30" "3304" "0" "3304" "0" "c.3304T>A" "r.(?)" "p.(Ser1102Thr)" "" "0000963231" "00002091" "30" "3443" "0" "3443" "0" "c.3443C>T" "r.(?)" "p.(Pro1148Leu)" "" "0000976352" "00002091" "50" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" "" "0001018807" "00002091" "90" "1352" "5" "1352" "5" "c.1352+5G>T" "r.1242_1352del" "p.Arg414_His451delinsSer" "" "0001018808" "00002091" "90" "-252257" "0" "504" "34979" "c.-252257_504+34979del" "r.0?" "p.0?" "_1_3i" "0001034659" "00002091" "30" "862" "-8" "862" "-8" "c.862-8G>A" "r.(=)" "p.(=)" "" "0001046949" "00002091" "50" "2931" "7" "2931" "7" "c.2931+7G>A" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000459869" "0001018807" "0000459869" "0001018808"