### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MUC12) # 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}}" "MUC12" "mucin 12, cell surface associated" "7" "q22" "unknown" "NC_000007.13" "UD_136016928611" "" "http://www.LOVD.nl/MUC12" "" "1" "7510" "10071" "604609" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/MUC12_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-02-13 12:34:26" "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}}" "00014076" "MUC12" "mucin 12, cell surface associated" "001" "NM_001164462.1" "" "NP_001157934.1" "" "" "" "1" "16321" "16008" "100612904" "100662230" "" "0000-00-00 00:00:00" "" "" ## 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}}" "04063" "POF8" "ovarian failure, premature, type 8 (POF-8)" "AR" "615723" "" "" "" "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 = 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}}" "00029856" "" "" "" "5" "" "00006" "{PMID:Caburet 2014:24597867}, {DOI:Caburet 2014:10.1056/NEJMoa1309635}, {PMID:Caburet 2012:22428046}" "5-generation family, 5 affecteds (5F), unaffected heterozygous carriers" "" "yes" "Israel" "" "0" "" "" "Palestinian" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00029856" "04063" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04063 ## 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}}" "0000025784" "04063" "00029856" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "" ## 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}}" "0000029922" "00029856" "1" "00006" "00006" "2015-02-13 12:02:16" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000029922" "STAG3" ## 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 = 42 "{{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}}" "0000055996" "3" "50" "7" "100637008" "100637008" "subst" "0" "00006" "MUC12_000001" "g.100637008C>T" "" "{PMID:Caburet 2014:24597867}, {DOI:Caburet 2014:10.1056/NEJMoa1309635}" "" "" "not associated with phenotype" "Germline" "no" "" "0" "" "" "g.100993727C>T" "" "VUS" "" "0000055997" "3" "50" "7" "100637035" "100637035" "subst" "0.261244" "00006" "MUC12_000002" "g.100637035A>C" "" "{PMID:Caburet 2014:24597867}, {DOI:Caburet 2014:10.1056/NEJMoa1309635}" "" "" "not associated with phenotype" "Germline" "no" "" "0" "" "" "g.100993754A>C" "" "VUS" "" "0000055998" "3" "50" "7" "100637041" "100637041" "subst" "0.259229" "00006" "MUC12_000003" "g.100637041C>A" "" "{PMID:Caburet 2014:24597867}, {DOI:Caburet 2014:10.1056/NEJMoa1309635}" "" "" "not associated with phenotype" "Germline" "no" "" "0" "" "" "g.100993760C>A" "" "VUS" "" "0000292146" "0" "10" "7" "100635015" "100635015" "subst" "0.000528683" "01943" "MUC12_000004" "g.100635015G>A" "" "" "" "MUC12(NM_001164462.1):c.1171G>A (p.G391S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100991734G>A" "" "benign" "" "0000292147" "0" "30" "7" "100646226" "100646226" "subst" "0.000328895" "01943" "MUC12_000009" "g.100646226C>T" "" "" "" "MUC12(NM_001164462.1):c.12382C>T (p.R4128C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101002945C>T" "" "likely benign" "" "0000292148" "0" "30" "7" "100646464" "100646464" "subst" "0" "01943" "MUC12_000010" "g.100646464C>A" "" "" "" "MUC12(NM_001164462.1):c.12620C>A (p.T4207K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101003183C>A" "" "likely benign" "" "0000292149" "0" "50" "7" "100646590" "100646590" "subst" "0.000249861" "01943" "MUC12_000006" "g.100646590G>A" "" "" "" "MUC12(NM_001164462.1):c.12746G>A (p.S4249N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101003309G>A" "" "VUS" "" "0000292150" "0" "30" "7" "100635120" "100635120" "subst" "2.81658E-5" "01943" "MUC12_000008" "g.100635120G>A" "" "" "" "MUC12(NM_001164462.1):c.1276G>A (p.D426N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100991839G>A" "" "likely benign" "" "0000292151" "0" "50" "7" "100646626" "100646626" "subst" "0.000241008" "01943" "MUC12_000011" "g.100646626G>A" "" "" "" "MUC12(NM_001164462.1):c.12782G>A (p.G4261D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101003345G>A" "" "VUS" "" "0000292152" "0" "30" "7" "100646739" "100646739" "subst" "3.89681E-5" "01943" "MUC12_000007" "g.100646739G>A" "" "" "" "MUC12(NM_001164462.1):c.12895G>A (p.A4299T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101003458G>A" "" "likely benign" "" "0000292153" "0" "10" "7" "100636408" "100636408" "subst" "0.780105" "01943" "MUC12_000005" "g.100636408G>A" "" "" "" "MUC12(NM_001164462.1):c.2564G>A (p.R855H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100993127G>A" "" "benign" "" "0000530084" "0" "30" "7" "100637012" "100637012" "subst" "4.33633E-5" "01943" "MUC12_000014" "g.100637012T>A" "" "" "" "MUC12(NM_001164462.1):c.3168T>A (p.S1056R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100993731T>A" "" "likely benign" "" "0000530085" "0" "30" "7" "100637092" "100637092" "subst" "0" "01943" "MUC12_000015" "g.100637092C>G" "" "" "" "MUC12(NM_001164462.1):c.3248C>G (p.T1083S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100993811C>G" "" "likely benign" "" "0000530086" "0" "10" "7" "100638158" "100638158" "subst" "0" "01943" "MUC12_000016" "g.100638158C>T" "" "" "" "MUC12(NM_001164462.1):c.4314C>T (p.T1438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100994877C>T" "" "benign" "" "0000530087" "0" "30" "7" "100639156" "100639156" "subst" "6.35001E-5" "01943" "MUC12_000017" "g.100639156C>T" "" "" "" "MUC12(NM_001164462.1):c.5312C>T (p.A1771V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100995875C>T" "" "likely benign" "" "0000530090" "0" "30" "7" "100640213" "100640213" "subst" "0" "01943" "MUC12_000020" "g.100640213G>A" "" "" "" "MUC12(NM_001164462.1):c.6369G>A (p.S2123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100996932G>A" "" "likely benign" "" "0000530091" "0" "10" "7" "100641145" "100641145" "subst" "0" "01943" "MUC12_000021" "g.100641145G>A" "" "" "" "MUC12(NM_001164462.1):c.7301G>A (p.R2434Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100997864G>A" "" "benign" "" "0000530093" "0" "10" "7" "100641376" "100641376" "subst" "0" "01943" "MUC12_000023" "g.100641376C>T" "" "" "" "MUC12(NM_001164462.1):c.7532C>T (p.T2511I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100998095C>T" "" "benign" "" "0000530101" "0" "30" "7" "100644775" "100644775" "subst" "0" "01804" "MUC12_000031" "g.100644775C>T" "" "" "" "MUC12(NM_001164462.1):c.10931C>T (p.(Thr3644Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101001494C>T" "" "likely benign" "" "0000530102" "0" "30" "7" "100645201" "100645201" "subst" "0" "01943" "MUC12_000032" "g.100645201C>T" "" "" "" "MUC12(NM_001164462.1):c.11357C>T (p.A3786V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101001920C>T" "" "likely benign" "" "0000530103" "0" "10" "7" "100646309" "100646309" "subst" "0.00751529" "01943" "MUC12_000033" "g.100646309T>A" "" "" "" "MUC12(NM_001164462.1):c.12465T>A (p.V4155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101003028T>A" "" "benign" "" "0000530104" "0" "50" "7" "100647300" "100647300" "subst" "0" "01943" "MUC12_000034" "g.100647300C>T" "" "" "" "MUC12(NM_001164462.1):c.13456C>T (p.R4486C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101004019C>T" "" "VUS" "" "0000530105" "0" "30" "7" "100647655" "100647655" "subst" "6.09032E-5" "01943" "MUC12_000035" "g.100647655C>T" "" "" "" "MUC12(NM_001164462.1):c.13811C>T (p.A4604V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101004374C>T" "" "likely benign" "" "0000610572" "0" "30" "7" "100644127" "100644127" "subst" "0" "01804" "MUC12_000038" "g.100644127C>T" "" "" "" "MUC12(NM_001164462.1):c.10283C>T (p.(Thr3428Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101000846C>T" "" "likely benign" "" "0000610573" "0" "30" "7" "100644377" "100644377" "subst" "0" "01943" "MUC12_000039" "g.100644377C>A" "" "" "" "MUC12(NM_001164462.1):c.10533C>A (p.T3511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101001096C>A" "" "likely benign" "" "0000610574" "0" "30" "7" "100644387" "100644387" "subst" "1.03719E-5" "01943" "MUC12_000040" "g.100644387C>A" "" "" "" "MUC12(NM_001164462.1):c.10543C>A (p.L3515I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101001106C>A" "" "likely benign" "" "0000621789" "0" "30" "7" "100663452" "100663452" "subst" "9.0967E-5" "01943" "MUC12_000042" "g.100663452G>C" "" "" "" "MUC17(NM_001040105.1):c.36G>C (p.L12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101020171G>C" "" "likely benign" "" "0000677912" "0" "30" "7" "100638631" "100638631" "subst" "0.000469557" "01943" "MUC12_000043" "g.100638631C>T" "" "" "" "MUC12(NM_001164462.1):c.4787C>T (p.T1596I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689832" "0" "30" "7" "100636842" "100636842" "subst" "1.08441E-5" "01943" "MUC12_000044" "g.100636842T>C" "" "" "" "MUC12(NM_001164462.1):c.2998T>C (p.S1000P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689833" "0" "30" "7" "100636846" "100636846" "subst" "0.000113523" "01943" "MUC12_000045" "g.100636846C>A" "" "" "" "MUC12(NM_001164462.1):c.3002C>A (p.T1001N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689834" "0" "50" "7" "100645245" "100645245" "subst" "0" "01943" "MUC12_000046" "g.100645245T>C" "" "" "" "MUC12(NM_001164462.1):c.11401T>C (p.Y3801H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860554" "0" "30" "7" "100636836" "100636836" "subst" "9.94886E-6" "01943" "MUC12_000047" "g.100636836C>T" "" "" "" "MUC12(NM_001164462.1):c.2992C>T (p.P998S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860555" "0" "50" "7" "100637269" "100637269" "subst" "0" "01943" "MUC12_000048" "g.100637269C>A" "" "" "" "MUC12(NM_001164462.1):c.3425C>A (p.T1142K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860556" "0" "50" "7" "100637280" "100637280" "subst" "0" "01943" "MUC12_000049" "g.100637280G>A" "" "" "" "MUC12(NM_001164462.1):c.3436G>A (p.A1146T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860557" "0" "50" "7" "100637332" "100637332" "subst" "4.9617E-5" "01943" "MUC12_000050" "g.100637332G>A" "" "" "" "MUC12(NM_001164462.1):c.3488G>A (p.S1163N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860558" "0" "30" "7" "100637417" "100637417" "subst" "0" "01943" "MUC12_000051" "g.100637417C>A" "" "" "" "MUC12(NM_001164462.1):c.3573C>A (p.S1191R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860559" "0" "50" "7" "100641337" "100641337" "subst" "0" "01943" "MUC12_000052" "g.100641337G>A" "" "" "" "MUC12(NM_001164462.1):c.7493G>A (p.S2498N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996041" "0" "30" "7" "100634781" "100634781" "subst" "0.000944114" "01804" "MUC12_000063" "g.100634781C>G" "" "" "" "MUC12(NM_001164462.1):c.937C>G (p.(Pro313Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996042" "0" "50" "7" "100638708" "100638708" "subst" "0.000437223" "01804" "MUC12_000064" "g.100638708A>G" "" "" "" "MUC12(NM_001164462.1):c.4864A>G (p.(Ser1622Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996043" "0" "50" "7" "100639007" "100639007" "subst" "1.42161E-5" "01804" "MUC12_000065" "g.100639007C>G" "" "" "" "MUC12(NM_001164462.1):c.5163C>G (p.(Ser1721Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996044" "0" "50" "7" "100648294" "100648294" "subst" "2.12242E-5" "01804" "MUC12_000066" "g.100648294C>G" "" "" "" "MUC12(NM_001164462.1):c.14450C>G (p.(Ser4817Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035997" "0" "30" "7" "100643490" "100643490" "subst" "0.0133452" "01804" "MUC12_000067" "g.100643490G>T" "" "" "" "MUC12(NM_001164462.1):c.9646G>T (p.(Ala3216Ser))" "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 MUC12 ## Count = 42 "{{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}}" "0000055996" "00014076" "50" "3164" "0" "3164" "0" "c.3164C>T" "r.(?)" "p.(Ala1055Val)" "2" "0000055997" "00014076" "50" "3191" "0" "3191" "0" "c.3191A>C" "r.(?)" "p.(His1064Pro)" "2" "0000055998" "00014076" "50" "3197" "0" "3197" "0" "c.3197C>A" "r.(?)" "p.(Thr1066Lys)" "2" "0000292146" "00014076" "10" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Ser)" "" "0000292147" "00014076" "30" "12382" "0" "12382" "0" "c.12382C>T" "r.(?)" "p.(Arg4128Cys)" "" "0000292148" "00014076" "30" "12620" "0" "12620" "0" "c.12620C>A" "r.(?)" "p.(Thr4207Lys)" "" "0000292149" "00014076" "50" "12746" "0" "12746" "0" "c.12746G>A" "r.(?)" "p.(Ser4249Asn)" "" "0000292150" "00014076" "30" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Asp426Asn)" "" "0000292151" "00014076" "50" "12782" "0" "12782" "0" "c.12782G>A" "r.(?)" "p.(Gly4261Asp)" "" "0000292152" "00014076" "30" "12895" "0" "12895" "0" "c.12895G>A" "r.(?)" "p.(Ala4299Thr)" "" "0000292153" "00014076" "10" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Arg855His)" "" "0000530084" "00014076" "30" "3168" "0" "3168" "0" "c.3168T>A" "r.(?)" "p.(Ser1056Arg)" "" "0000530085" "00014076" "30" "3248" "0" "3248" "0" "c.3248C>G" "r.(?)" "p.(Thr1083Ser)" "" "0000530086" "00014076" "10" "4314" "0" "4314" "0" "c.4314C>T" "r.(?)" "p.(Thr1438=)" "" "0000530087" "00014076" "30" "5312" "0" "5312" "0" "c.5312C>T" "r.(?)" "p.(Ala1771Val)" "" "0000530090" "00014076" "30" "6369" "0" "6369" "0" "c.6369G>A" "r.(?)" "p.(Ser2123=)" "" "0000530091" "00014076" "10" "7301" "0" "7301" "0" "c.7301G>A" "r.(?)" "p.(Arg2434Gln)" "" "0000530093" "00014076" "10" "7532" "0" "7532" "0" "c.7532C>T" "r.(?)" "p.(Thr2511Ile)" "" "0000530101" "00014076" "30" "10931" "0" "10931" "0" "c.10931C>T" "r.(?)" "p.(Thr3644Met)" "" "0000530102" "00014076" "30" "11357" "0" "11357" "0" "c.11357C>T" "r.(?)" "p.(Ala3786Val)" "" "0000530103" "00014076" "10" "12465" "0" "12465" "0" "c.12465T>A" "r.(?)" "p.(Val4155=)" "" "0000530104" "00014076" "50" "13456" "0" "13456" "0" "c.13456C>T" "r.(?)" "p.(Arg4486Cys)" "" "0000530105" "00014076" "30" "13811" "0" "13811" "0" "c.13811C>T" "r.(?)" "p.(Ala4604Val)" "" "0000610572" "00014076" "30" "10283" "0" "10283" "0" "c.10283C>T" "r.(?)" "p.(Thr3428Ile)" "" "0000610573" "00014076" "30" "10533" "0" "10533" "0" "c.10533C>A" "r.(?)" "p.(Thr3511=)" "" "0000610574" "00014076" "30" "10543" "0" "10543" "0" "c.10543C>A" "r.(?)" "p.(Leu3515Ile)" "" "0000621789" "00014076" "30" "17543" "0" "17543" "0" "c.*1535G>C" "r.(=)" "p.(=)" "" "0000677912" "00014076" "30" "4787" "0" "4787" "0" "c.4787C>T" "r.(?)" "p.(Thr1596Ile)" "" "0000689832" "00014076" "30" "2998" "0" "2998" "0" "c.2998T>C" "r.(?)" "p.(Ser1000Pro)" "" "0000689833" "00014076" "30" "3002" "0" "3002" "0" "c.3002C>A" "r.(?)" "p.(Thr1001Asn)" "" "0000689834" "00014076" "50" "11401" "0" "11401" "0" "c.11401T>C" "r.(?)" "p.(Tyr3801His)" "" "0000860554" "00014076" "30" "2992" "0" "2992" "0" "c.2992C>T" "r.(?)" "p.(Pro998Ser)" "" "0000860555" "00014076" "50" "3425" "0" "3425" "0" "c.3425C>A" "r.(?)" "p.(Thr1142Lys)" "" "0000860556" "00014076" "50" "3436" "0" "3436" "0" "c.3436G>A" "r.(?)" "p.(Ala1146Thr)" "" "0000860557" "00014076" "50" "3488" "0" "3488" "0" "c.3488G>A" "r.(?)" "p.(Ser1163Asn)" "" "0000860558" "00014076" "30" "3573" "0" "3573" "0" "c.3573C>A" "r.(?)" "p.(Ser1191Arg)" "" "0000860559" "00014076" "50" "7493" "0" "7493" "0" "c.7493G>A" "r.(?)" "p.(Ser2498Asn)" "" "0000996041" "00014076" "30" "937" "0" "937" "0" "c.937C>G" "r.(?)" "p.(Pro313Ala)" "" "0000996042" "00014076" "50" "4864" "0" "4864" "0" "c.4864A>G" "r.(?)" "p.(Ser1622Gly)" "" "0000996043" "00014076" "50" "5163" "0" "5163" "0" "c.5163C>G" "r.(?)" "p.(Ser1721Arg)" "" "0000996044" "00014076" "50" "14450" "0" "14450" "0" "c.14450C>G" "r.(?)" "p.(Ser4817Cys)" "" "0001035997" "00014076" "30" "9646" "0" "9646" "0" "c.9646G>T" "r.(?)" "p.(Ala3216Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000029922" "0000055996" "0000029922" "0000055997" "0000029922" "0000055998"