### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPINK5) # 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}}" "SPINK5" "serine peptidase inhibitor, Kazal type 5" "5" "q31-q32" "unknown" "NC_000005.9" "UD_132084497398" "" "https://www.LOVD.nl/SPINK5" "" "1" "15464" "11005" "605010" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-07-22 09:36:01" "00006" "2026-07-22 09:35:31" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00020189" "SPINK5" "transcript variant 1" "001" "NM_001127698.1" "" "NP_001121170.1" "" "" "" "-73" "3656" "3285" "147443535" "147516925" "" "0000-00-00 00:00:00" "" "" "00026097" "SPINK5" "transcript variant 2" "002" "NM_006846.3" "" "NP_006837.2" "" "" "RefSeq select" "-73" "3566" "3195" "147443535" "147516925" "00006" "2026-07-22 09:35:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01397" "IGER" "IgEresponsiveness, atopic (IGER)" "AD" "147050" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01967" "NETH" "Netherton syndrome (NETH)" "AR" "256500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SPINK5" "01397" "SPINK5" "01967" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00104033" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-743A" "00293775" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293776" "" "" "" "44" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306186" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "84" "00334287" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334297" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334311" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334316" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335034" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335037" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00408083" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "6" "00469417" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00474587" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "patient" "" "" "Lebanon" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00104033" "03381" "00293775" "00198" "00293776" "00198" "00306186" "01967" "00334287" "05793" "00334297" "05793" "00334311" "05793" "00334316" "05793" "00335034" "05793" "00335037" "05793" "00408083" "04214" "00469417" "00198" "00474587" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01397, 01967, 03381, 04214, 05793 ## Count = 11 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081967" "03381" "00104033" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000232033" "01967" "00306186" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "0000253097" "05793" "00334287" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253107" "05793" "00334297" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253121" "05793" "00334311" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253126" "05793" "00334316" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253316" "05793" "00335034" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253319" "05793" "00335037" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000300211" "04214" "00408083" "00000" "Familial, autosomal recessive" "12y" "12 years old boy who had ichthyosis since birth (erythematous, dry, and scaly skin). He also had sparseness of scalp hair, eyebrow, and eyelashes; dry and thickened palms and soles; weight and height below 5th percentiles; and normal development. His parents were cousins and he had two affected siblings and three unaffected siblings." "" "" "" "" "" "" "" "Netherton syndrome" "" "" "0000354570" "00198" "00469417" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "abnormality of the integument" "" "0000359379" "00198" "00474587" "00006" "Unknown" "" "Congenital ichthyosis (Dermatological)" "" "" "" "" "" "" "" "Netherton syndrome" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104504" "00104033" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000294943" "00293775" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294944" "00293776" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307320" "00306186" "1" "03695" "03695" "2020-07-11 03:10:24" "" "" "SEQ-NG" "DNA" "" "" "0000335513" "00334287" "1" "04011" "04011" "2021-02-27 03:17:46" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335524" "00334297" "1" "04011" "04011" "2021-02-27 05:38:13" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335539" "00334311" "1" "04011" "04011" "2021-02-27 07:22:13" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335544" "00334316" "1" "04011" "04011" "2021-02-27 08:23:43" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336263" "00335034" "1" "04011" "04011" "2021-03-03 05:19:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336266" "00335037" "1" "04011" "04011" "2021-03-03 06:11:42" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000409338" "00408083" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" "0000471085" "00469417" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476269" "00474587" "1" "00006" "00006" "2026-03-19 11:30:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000307320" "SPINK5" "0000409338" "SPINK5" ## 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 = 183 "{{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}}" "0000169415" "0" "70" "5" "147466079" "147466080" "del" "0" "00587" "SPINK5_000001" "g.147466079_147466080del" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001127698.1(SPINK5):c.394_395del p.(Leu132Valfs*3)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.148086516_148086517del" "" "likely pathogenic" "" "0000248085" "0" "30" "5" "147498551" "147498551" "subst" "0.00293137" "02325" "SPINK5_000037" "g.147498551A>G" "" "" "" "SPINK5(NM_001127698.1):c.2243A>G (p.E748G, p.(Glu748Gly)), SPINK5(NM_001127698.2):c.2243A>G (p.E748G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148118988A>G" "" "likely benign" "" "0000248549" "0" "10" "5" "147481430" "147481430" "subst" "0.520898" "02325" "SPINK5_000023" "g.147481430A>G" "" "" "" "SPINK5(NM_001127698.2):c.1389A>G (p.G463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148101867A>G" "" "benign" "" "0000248815" "0" "10" "5" "147480955" "147480955" "subst" "0.520854" "02325" "SPINK5_000020" "g.147480955A>G" "" "" "" "SPINK5(NM_001127698.2):c.1258A>G (p.K420E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148101392A>G" "" "benign" "" "0000248818" "0" "10" "5" "147506583" "147506583" "subst" "0.00252303" "02325" "SPINK5_000050" "g.147506583A>G" "" "" "" "SPINK5(NM_001127698.1):c.2995A>G (p.K999E, p.(Lys999Glu)), SPINK5(NM_001127698.2):c.2995A>G (p.K999E), SPINK5(NM_006846.3):c.2905A>G (p.K969E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148127020A>G" "" "benign" "" "0000248879" "0" "10" "5" "147475386" "147475386" "subst" "0.531982" "02325" "SPINK5_000011" "g.147475386A>G" "" "" "" "SPINK5(NM_001127698.2):c.800A>G (p.Q267R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148095823A>G" "" "benign" "" "0000249061" "0" "10" "5" "147468614" "147468614" "subst" "0" "02325" "SPINK5_000006" "g.147468614A>G" "" "" "" "SPINK5(NM_001127698.2):c.475-443A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148089051A>G" "" "benign" "" "0000249062" "0" "10" "5" "147475488" "147475488" "subst" "0.521631" "02325" "SPINK5_000013" "g.147475488A>G" "" "" "" "SPINK5(NM_001127698.2):c.882+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148095925A>G" "" "benign" "" "0000249063" "0" "10" "5" "147504315" "147504316" "ins" "0" "02325" "SPINK5_000048" "g.147504315_147504316insT" "" "" "" "SPINK5(NM_001127698.2):c.2667-12delAinsTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148124752_148124753insT" "" "benign" "" "0000249064" "0" "10" "5" "147504315" "147504315" "delins" "0" "02325" "SPINK5_000047" "g.147504315delinsTT" "" "" "" "SPINK5(NM_001127698.2):c.2667-13delAinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148124752delinsTT" "" "benign" "" "0000249536" "0" "30" "5" "147494065" "147494065" "subst" "2.03173E-5" "02325" "SPINK5_000032" "g.147494065A>G" "" "" "" "SPINK5(NM_001127698.2):c.2015+13A>G, SPINK5(NM_006846.3):c.2015+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148114502A>G" "" "likely benign" "" "0000250776" "0" "30" "5" "147498551" "147498551" "subst" "0.00293137" "02326" "SPINK5_000037" "g.147498551A>G" "" "" "" "SPINK5(NM_001127698.1):c.2243A>G (p.E748G, p.(Glu748Gly)), SPINK5(NM_001127698.2):c.2243A>G (p.E748G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148118988A>G" "" "likely benign" "" "0000251078" "0" "10" "5" "147506593" "147506593" "subst" "0.0241985" "02326" "SPINK5_000045" "g.147506593A>G" "" "" "" "SPINK5(NM_001127698.1):c.3005A>G (p.(His1002Arg)), SPINK5(NM_001127698.2):c.3005A>G (p.H1002R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148127030A>G" "" "benign" "" "0000251834" "0" "30" "5" "147499947" "147499947" "subst" "0" "02326" "SPINK5_000041" "g.147499947A>G" "" "" "" "SPINK5(NM_001127698.2):c.2531A>G (p.D844G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148120384A>G" "" "likely benign" "" "0000252094" "0" "30" "5" "147504316" "147504316" "del" "0.00107304" "02326" "SPINK5_000043" "g.147504316del" "" "" "" "SPINK5(NM_001127698.2):c.2667-12delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148124753del" "" "likely benign" "" "0000253995" "0" "30" "5" "147498551" "147498551" "subst" "0.00293137" "01943" "SPINK5_000037" "g.147498551A>G" "" "" "" "SPINK5(NM_001127698.1):c.2243A>G (p.E748G, p.(Glu748Gly)), SPINK5(NM_001127698.2):c.2243A>G (p.E748G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148118988A>G" "" "likely benign" "" "0000254611" "0" "30" "5" "147480056" "147480056" "subst" "0.000898856" "01943" "SPINK5_000017" "g.147480056A>C" "" "" "" "SPINK5(NM_001127698.1):c.1132A>C (p.K378Q, p.(Lys378Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148100493A>C" "" "likely benign" "" "0000311504" "0" "30" "5" "147443589" "147443589" "subst" "0.00830666" "02325" "SPINK5_000002" "g.147443589G>A" "" "" "" "SPINK5(NM_001127698.2):c.-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148064026G>A" "" "likely benign" "" "0000311505" "0" "10" "5" "147477551" "147477551" "subst" "0.520052" "02325" "SPINK5_000014" "g.147477551C>T" "" "" "" "SPINK5(NM_001127698.2):c.1004C>T (p.A335V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148097988C>T" "" "benign" "" "0000311506" "0" "10" "5" "147478785" "147478785" "subst" "0.519242" "02325" "SPINK5_000015" "g.147478785C>T" "" "" "" "SPINK5(NM_001127698.2):c.1011-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148099222C>T" "" "benign" "" "0000311507" "0" "10" "5" "147480027" "147480027" "subst" "0.519941" "02325" "SPINK5_000016" "g.147480027G>A" "" "" "" "SPINK5(NM_001127698.2):c.1103G>A (p.S368N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148100464G>A" "" "benign" "" "0000311508" "0" "10" "5" "147480112" "147480112" "subst" "0.520639" "02325" "SPINK5_000019" "g.147480112T>C" "" "" "" "SPINK5(NM_001127698.2):c.1188T>C (p.H396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148100549T>C" "" "benign" "" "0000311509" "0" "10" "5" "147481018" "147481018" "subst" "0.519766" "02325" "SPINK5_000021" "g.147481018G>A" "" "" "" "SPINK5(NM_001127698.2):c.1302+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148101455G>A" "" "benign" "" "0000311510" "0" "30" "5" "147481363" "147481363" "subst" "0.0018159" "02325" "SPINK5_000022" "g.147481363G>A" "" "" "" "SPINK5(NM_001127698.1):c.1322G>A (p.(Arg441His)), SPINK5(NM_001127698.2):c.1322G>A (p.R441H), SPINK5(NM_006846.3):c.1322G>A (p.R441H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148101800G>A" "" "likely benign" "" "0000311511" "0" "10" "5" "147486677" "147486677" "subst" "0.519741" "02325" "SPINK5_000027" "g.147486677C>A" "" "" "" "SPINK5(NM_001127698.2):c.1557C>A (p.G519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148107114C>A" "" "benign" "" "0000311512" "0" "10" "5" "147488367" "147488367" "subst" "0.558653" "02325" "SPINK5_000028" "g.147488367C>T" "" "" "" "SPINK5(NM_001127698.2):c.1659C>T (p.V553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148108804C>T" "" "benign" "" "0000311513" "0" "30" "5" "147491324" "147491324" "subst" "0" "02325" "SPINK5_000029" "g.147491324T>C" "" "" "" "SPINK5(NM_001127698.2):c.1693-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148111761T>C" "" "likely benign" "" "0000311514" "0" "30" "5" "147496011" "147496013" "del" "0" "02325" "SPINK5_000033" "g.147496011_147496013del" "" "" "" "SPINK5(NM_001127698.1):c.2087_2089del (p.(Gly701del)), SPINK5(NM_001127698.2):c.2094_2096delTGG (p.G701del), SPINK5(NM_006846.3):c.2094_2096delTGG ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148116448_148116450del" "" "likely benign" "" "0000311515" "0" "10" "5" "147498019" "147498019" "subst" "0.593858" "02325" "SPINK5_000035" "g.147498019G>A" "" "" "" "SPINK5(NM_001127698.2):c.2132G>A (p.R711Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148118456G>A" "" "benign" "" "0000311516" "0" "10" "5" "147499616" "147499616" "subst" "0.593537" "02325" "SPINK5_000038" "g.147499616C>T" "" "" "" "SPINK5(NM_001127698.2):c.2358C>T (p.L786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148120053C>T" "" "benign" "" "0000311517" "0" "10" "5" "147499670" "147499670" "subst" "0.593615" "02325" "SPINK5_000039" "g.147499670C>T" "" "" "" "SPINK5(NM_001127698.2):c.2412C>T (p.G804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148120107C>T" "" "benign" "" "0000311518" "0" "10" "5" "147504314" "147504314" "dup" "0" "02325" "SPINK5_000042" "g.147504314dup" "" "" "" "SPINK5(NM_001127698.2):c.2667-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148124751dup" "" "benign" "" "0000311519" "0" "10" "5" "147505116" "147505116" "subst" "0.585486" "02325" "SPINK5_000049" "g.147505116G>A" "" "" "" "SPINK5(NM_001127698.2):c.2769G>A (p.A923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148125553G>A" "" "benign" "" "0000311520" "0" "30" "5" "147506573" "147506573" "subst" "0.00171915" "02325" "SPINK5_000044" "g.147506573G>A" "" "" "" "SPINK5(NM_001127698.2):c.2985G>A (p.K995=), SPINK5(NM_006846.3):c.2895G>A (p.K965=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148127010G>A" "" "likely benign" "" "0000311521" "0" "10" "5" "147510866" "147510866" "subst" "0.598694" "02325" "SPINK5_000051" "g.147510866T>C" "" "" "" "SPINK5(NM_001127698.2):c.3099T>C (p.G1033=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148131303T>C" "" "benign" "" "0000311522" "0" "50" "5" "147473971" "147473971" "subst" "4.0657E-6" "02325" "SPINK5_000008" "g.147473971C>T" "" "" "" "SPINK5(NM_001127698.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148094408C>T" "" "VUS" "" "0000311523" "0" "10" "5" "147473988" "147473988" "subst" "0.000821132" "02325" "SPINK5_000009" "g.147473988C>T" "" "" "" "SPINK5(NM_001127698.2):c.738C>T (p.V246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148094425C>T" "" "benign" "" "0000311524" "0" "30" "5" "147475388" "147475388" "subst" "0.00665723" "02325" "SPINK5_000012" "g.147475388C>T" "" "" "" "SPINK5(NM_001127698.1):c.802C>T (p.R268C, p.(Arg268Cys)), SPINK5(NM_001127698.2):c.802C>T (p.R268C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148095825C>T" "" "likely benign" "" "0000313874" "0" "70" "5" "147484503" "147484503" "subst" "3.35461E-5" "02326" "SPINK5_000025" "g.147484503G>A" "" "" "" "SPINK5(NM_001127698.2):c.1431-12G>A, SPINK5(NM_006846.3):c.1431-12G>A, SPINK5(NM_006846.4):c.1431-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148104940G>A" "" "likely pathogenic" "" "0000313875" "0" "30" "5" "147484535" "147484535" "subst" "0.00125514" "02326" "SPINK5_000026" "g.147484535G>A" "" "" "" "SPINK5(NM_001127698.1):c.1451G>A (p.(Arg484Lys)), SPINK5(NM_001127698.2):c.1451G>A (p.R484K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148104972G>A" "" "likely benign" "" "0000313876" "0" "10" "5" "147491402" "147491402" "subst" "0.00224654" "02326" "SPINK5_000030" "g.147491402T>G" "" "" "" "SPINK5(NM_001127698.1):c.1764T>G (p.(Ile588Met)), SPINK5(NM_001127698.2):c.1764T>G (p.I588M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148111839T>G" "" "benign" "" "0000313877" "0" "10" "5" "147498543" "147498543" "subst" "0.00829877" "02326" "SPINK5_000036" "g.147498543C>T" "" "" "" "SPINK5(NM_001127698.1):c.2241-6C>T (p.(=)), SPINK5(NM_001127698.2):c.2241-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148118980C>T" "" "benign" "" "0000313878" "0" "50" "5" "147499677" "147499677" "subst" "0.000125925" "02326" "SPINK5_000040" "g.147499677T>G" "" "" "" "SPINK5(NM_001127698.1):c.2419T>G (p.C807G, p.(Cys807Gly)), SPINK5(NM_001127698.2):c.2419T>G (p.C807G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148120114T>G" "" "VUS" "" "0000313879" "0" "10" "5" "147466001" "147466001" "subst" "0.0454716" "02326" "SPINK5_000003" "g.147466001G>A" "" "" "" "SPINK5(NM_001127698.2):c.316G>A (p.D106N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148086438G>A" "" "benign" "" "0000313880" "0" "30" "5" "147468112" "147468112" "subst" "6.9273E-5" "02326" "SPINK5_000004" "g.147468112G>A" "" "" "" "SPINK5(NM_001127698.2):c.418G>A (p.G140R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148088549G>A" "" "likely benign" "" "0000313881" "0" "90" "5" "147470774" "147470774" "subst" "2.45791E-5" "02326" "SPINK5_000007" "g.147470774C>T" "" "" "" "SPINK5(NM_001127698.2):c.649C>T (p.R217*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148091211C>T" "" "pathogenic" "" "0000313882" "0" "90" "5" "147474050" "147474050" "subst" "0" "02326" "SPINK5_000010" "g.147474050T>C" "" "" "" "SPINK5(NM_001127698.2):c.794+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148094487T>C" "" "pathogenic" "" "0000313883" "0" "10" "5" "147475388" "147475388" "subst" "0.00665723" "02326" "SPINK5_000012" "g.147475388C>T" "" "" "" "SPINK5(NM_001127698.1):c.802C>T (p.R268C, p.(Arg268Cys)), SPINK5(NM_001127698.2):c.802C>T (p.R268C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148095825C>T" "" "benign" "" "0000315601" "0" "10" "5" "147480080" "147480080" "subst" "0.203937" "01943" "SPINK5_000018" "g.147480080G>A" "" "" "" "SPINK5(NM_001127698.1):c.1156G>A (p.D386N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148100517G>A" "" "benign" "" "0000315602" "0" "50" "5" "147481442" "147481442" "subst" "8.13517E-5" "01943" "SPINK5_000024" "g.147481442C>T" "" "" "" "SPINK5(NM_001127698.1):c.1401C>T (p.G467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148101879C>T" "" "VUS" "" "0000315603" "0" "50" "5" "147494001" "147494001" "subst" "0.00267023" "01943" "SPINK5_000031" "g.147494001G>A" "" "" "" "SPINK5(NM_001127698.1):c.1964G>A (p.G655D, p.(Gly655Asp)), SPINK5(NM_006846.4):c.1964G>A (p.G655D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148114438G>A" "" "VUS" "" "0000315604" "0" "30" "5" "147498014" "147498014" "subst" "2.03059E-5" "01943" "SPINK5_000034" "g.147498014G>A" "" "" "" "SPINK5(NM_001127698.1):c.2127G>A (p.E709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148118451G>A" "" "likely benign" "" "0000315606" "0" "50" "5" "147468146" "147468146" "subst" "8.14903E-6" "01943" "SPINK5_000005" "g.147468146G>A" "" "" "" "SPINK5(NM_001127698.1):c.452G>A (p.C151Y, p.(Cys151Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148088583G>A" "" "VUS" "" "0000315607" "0" "30" "5" "147475388" "147475388" "subst" "0.00665723" "01943" "SPINK5_000012" "g.147475388C>T" "" "" "" "SPINK5(NM_001127698.1):c.802C>T (p.R268C, p.(Arg268Cys)), SPINK5(NM_001127698.2):c.802C>T (p.R268C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148095825C>T" "" "likely benign" "" "0000524706" "0" "30" "5" "147443624" "147443624" "subst" "0" "01943" "SPINK5_000052" "g.147443624T>C" "" "" "" "SPINK5(NM_001127698.1):c.17T>C (p.V6A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148064061T>C" "" "likely benign" "" "0000524708" "0" "90" "5" "147473974" "147473974" "subst" "0" "02326" "SPINK5_000053" "g.147473974G>T" "" "" "" "SPINK5(NM_001127698.2):c.724G>T (p.E242*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148094411G>T" "" "pathogenic" "" "0000524709" "0" "30" "5" "147475385" "147475385" "subst" "0.000292983" "01943" "SPINK5_000054" "g.147475385C>A" "" "" "" "SPINK5(NM_001127698.1):c.799C>A (p.Q267K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148095822C>A" "" "likely benign" "" "0000524710" "0" "30" "5" "147475388" "147475388" "subst" "0.00665723" "01804" "SPINK5_000012" "g.147475388C>T" "" "" "" "SPINK5(NM_001127698.1):c.802C>T (p.R268C, p.(Arg268Cys)), SPINK5(NM_001127698.2):c.802C>T (p.R268C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148095825C>T" "" "likely benign" "" "0000524711" "0" "10" "5" "147480007" "147480007" "subst" "0.519762" "02325" "SPINK5_000055" "g.147480007A>G" "" "" "" "SPINK5(NM_001127698.2):c.1093-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148100444A>G" "" "benign" "" "0000524712" "0" "30" "5" "147480011" "147480011" "subst" "1.62796E-5" "01943" "SPINK5_000056" "g.147480011C>T" "" "" "" "SPINK5(NM_001127698.1):c.1093-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148100448C>T" "" "likely benign" "" "0000524713" "0" "30" "5" "147481363" "147481363" "subst" "0.0018159" "01804" "SPINK5_000022" "g.147481363G>A" "" "" "" "SPINK5(NM_001127698.1):c.1322G>A (p.(Arg441His)), SPINK5(NM_001127698.2):c.1322G>A (p.R441H), SPINK5(NM_006846.3):c.1322G>A (p.R441H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148101800G>A" "" "likely benign" "" "0000524715" "0" "50" "5" "147481420" "147481420" "subst" "0.000260383" "01943" "SPINK5_000058" "g.147481420G>T" "" "" "" "SPINK5(NM_001127698.1):c.1379G>T (p.G460V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148101857G>T" "" "VUS" "" "0000524716" "0" "30" "5" "147484503" "147484503" "subst" "8.38652E-6" "02325" "SPINK5_000059" "g.147484503G>T" "" "" "" "SPINK5(NM_001127698.2):c.1431-12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148104940G>T" "" "likely benign" "" "0000524717" "0" "90" "5" "147484516" "147484516" "subst" "4.09702E-6" "02326" "SPINK5_000060" "g.147484516C>T" "" "" "" "SPINK5(NM_001127698.2):c.1432C>T (p.Q478*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148104953C>T" "" "pathogenic" "" "0000524718" "0" "30" "5" "147486597" "147486597" "subst" "0.000113792" "01804" "SPINK5_000061" "g.147486597C>T" "" "" "" "SPINK5(NM_001127698.1):c.1480-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148107034C>T" "" "likely benign" "" "0000524719" "0" "30" "5" "147486725" "147486725" "subst" "0.000719074" "01943" "SPINK5_000062" "g.147486725G>T" "" "" "" "SPINK5(NM_001127698.1):c.1605G>T (p.V535=, p.(=)), SPINK5(NM_006846.3):c.1605G>T (p.V535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148107162G>T" "" "likely benign" "" "0000524720" "0" "30" "5" "147491311" "147491311" "subst" "0.00018289" "02326" "SPINK5_000063" "g.147491311G>A" "" "" "" "SPINK5(NM_001127698.2):c.1693-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148111748G>A" "" "likely benign" "" "0000524721" "0" "30" "5" "147491312" "147491312" "subst" "0.000182888" "02326" "SPINK5_000064" "g.147491312C>T" "" "" "" "SPINK5(NM_001127698.2):c.1693-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148111749C>T" "" "likely benign" "" "0000524723" "0" "30" "5" "147493952" "147493952" "subst" "0" "01943" "SPINK5_000066" "g.147493952T>C" "" "" "" "SPINK5(NM_001127698.1):c.1915T>C (p.L639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148114389T>C" "" "likely benign" "" "0000524724" "0" "30" "5" "147494001" "147494001" "subst" "0.00267023" "01804" "SPINK5_000031" "g.147494001G>A" "" "" "" "SPINK5(NM_001127698.1):c.1964G>A (p.G655D, p.(Gly655Asp)), SPINK5(NM_006846.4):c.1964G>A (p.G655D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148114438G>A" "" "likely benign" "" "0000524725" "0" "30" "5" "147496011" "147496013" "del" "0" "01804" "SPINK5_000033" "g.147496011_147496013del" "" "" "" "SPINK5(NM_001127698.1):c.2087_2089del (p.(Gly701del)), SPINK5(NM_001127698.2):c.2094_2096delTGG (p.G701del), SPINK5(NM_006846.3):c.2094_2096delTGG ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148116448_148116450del" "" "likely benign" "" "0000524726" "0" "30" "5" "147498002" "147498002" "subst" "3.65518E-5" "01943" "SPINK5_000067" "g.147498002C>T" "" "" "" "SPINK5(NM_001127698.1):c.2115C>T (p.D705=, p.(Asp705=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148118439C>T" "" "likely benign" "" "0000524727" "0" "30" "5" "147498011" "147498011" "subst" "0.000479223" "02326" "SPINK5_000068" "g.147498011T>C" "" "" "" "SPINK5(NM_001127698.2):c.2124T>C (p.A708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148118448T>C" "" "likely benign" "" "0000524728" "0" "30" "5" "147498055" "147498055" "subst" "5.27962E-5" "01804" "SPINK5_000069" "g.147498055G>A" "" "" "" "SPINK5(NM_001127698.1):c.2168G>A (p.(Arg723Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148118492G>A" "" "likely benign" "" "0000524729" "0" "10" "5" "147498543" "147498543" "subst" "0.00829877" "01804" "SPINK5_000036" "g.147498543C>T" "" "" "" "SPINK5(NM_001127698.1):c.2241-6C>T (p.(=)), SPINK5(NM_001127698.2):c.2241-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148118980C>T" "" "benign" "" "0000524730" "0" "30" "5" "147498551" "147498551" "subst" "0.00293137" "01804" "SPINK5_000037" "g.147498551A>G" "" "" "" "SPINK5(NM_001127698.1):c.2243A>G (p.E748G, p.(Glu748Gly)), SPINK5(NM_001127698.2):c.2243A>G (p.E748G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148118988A>G" "" "likely benign" "" "0000524731" "0" "50" "5" "147499884" "147499884" "del" "0" "01943" "SPINK5_000070" "g.147499884del" "" "" "" "SPINK5(NM_001127698.1):c.2468delA (p.K823Rfs*119)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148120321del" "" "VUS" "" "0000524732" "0" "90" "5" "147499903" "147499906" "dup" "0" "01943" "SPINK5_000071" "g.147499903_147499906dup" "" "" "" "SPINK5(NM_001127698.1):c.2487_2490dupGAGC (p.N831Efs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148120340_148120343dup" "" "pathogenic" "" "0000524733" "0" "30" "5" "147504322" "147504322" "subst" "0" "01804" "SPINK5_000072" "g.147504322C>T" "" "" "" "SPINK5(NM_001127698.1):c.2667-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148124759C>T" "" "likely benign" "" "0000524734" "0" "30" "5" "147504324" "147504324" "subst" "0.00585554" "01943" "SPINK5_000073" "g.147504324G>A" "" "" "" "SPINK5(NM_001127698.1):c.2667-4G>A (p.?), SPINK5(NM_001127698.2):c.2667-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148124761G>A" "" "likely benign" "" "0000524735" "0" "30" "5" "147504324" "147504324" "subst" "0.00585554" "02325" "SPINK5_000073" "g.147504324G>A" "" "" "" "SPINK5(NM_001127698.1):c.2667-4G>A (p.?), SPINK5(NM_001127698.2):c.2667-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148124761G>A" "" "likely benign" "" "0000524736" "0" "30" "5" "147505145" "147505145" "subst" "2.03166E-5" "01804" "SPINK5_000074" "g.147505145G>A" "" "" "" "SPINK5(NM_001127698.1):c.2798G>A (p.(Arg933His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148125582G>A" "" "likely benign" "" "0000524737" "0" "30" "5" "147505410" "147505410" "subst" "0.00257474" "01804" "SPINK5_000075" "g.147505410T>C" "" "" "" "SPINK5(NM_001127698.1):c.2954T>C (p.(Val985Ala)), SPINK5(NM_006846.3):c.2864T>C (p.V955A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148125847T>C" "" "likely benign" "" "0000524738" "0" "10" "5" "147506583" "147506583" "subst" "0.00252303" "01943" "SPINK5_000050" "g.147506583A>G" "" "" "" "SPINK5(NM_001127698.1):c.2995A>G (p.K999E, p.(Lys999Glu)), SPINK5(NM_001127698.2):c.2995A>G (p.K999E), SPINK5(NM_006846.3):c.2905A>G (p.K969E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148127020A>G" "" "benign" "" "0000524739" "0" "30" "5" "147506583" "147506583" "subst" "0.00252303" "01804" "SPINK5_000050" "g.147506583A>G" "" "" "" "SPINK5(NM_001127698.1):c.2995A>G (p.K999E, p.(Lys999Glu)), SPINK5(NM_001127698.2):c.2995A>G (p.K999E), SPINK5(NM_006846.3):c.2905A>G (p.K969E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148127020A>G" "" "likely benign" "" "0000524740" "0" "30" "5" "147506593" "147506593" "subst" "0.0241985" "01804" "SPINK5_000045" "g.147506593A>G" "" "" "" "SPINK5(NM_001127698.1):c.3005A>G (p.(His1002Arg)), SPINK5(NM_001127698.2):c.3005A>G (p.H1002R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148127030A>G" "" "likely benign" "" "0000609560" "0" "30" "5" "147470747" "147470747" "subst" "0" "01943" "SPINK5_000076" "g.147470747G>A" "" "" "" "SPINK5(NM_001127698.1):c.622G>A (p.A208T), SPINK5(NM_006846.3):c.622G>A (p.A208T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148091184G>A" "" "likely benign" "" "0000621500" "0" "50" "5" "147474003" "147474003" "subst" "6.50465E-5" "01943" "SPINK5_000077" "g.147474003C>T" "" "" "" "SPINK5(NM_001127698.1):c.753C>T (p.G251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148094440C>T" "" "VUS" "" "0000621501" "0" "50" "5" "147493997" "147493997" "subst" "0.000227635" "01943" "SPINK5_000078" "g.147493997C>T" "" "" "" "SPINK5(NM_001127698.1):c.1960C>T (p.R654C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148114434C>T" "" "VUS" "" "0000651632" "1" "30" "5" "147503518" "147503518" "subst" "0.0103754" "03575" "SPINK5_000079" "g.147503518C>G" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs28408445}" "Germline" "" "rs28408445" "0" "" "" "g.148123955C>G" "" "likely benign" "" "0000651633" "1" "30" "5" "147506593" "147506593" "subst" "0.0241985" "03575" "SPINK5_000045" "g.147506593A>G" "44/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "44 heterozygous, no homozygous; {DB:CLININrs17705005}" "Germline" "" "rs17705005" "0" "" "" "g.148127030A>G" "" "likely benign" "" "0000655320" "0" "90" "5" "147477438" "147477438" "subst" "2.44343E-5" "02325" "SPINK5_000080" "g.147477438C>T" "" "" "" "SPINK5(NM_001127698.2):c.891C>T (p.C297=), SPINK5(NM_001127699.2):c.891C>T (p.C297=), SPINK5(NM_006846.4):c.891C>T (p.(Cys297=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148097875C>T" "" "pathogenic" "" "0000673937" "2" "90" "5" "147466062" "147466063" "del" "0" "03695" "SPINK5_000081" "g.147466062_147466063del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000673938" "2" "90" "5" "147499884" "147499884" "dup" "0" "03695" "SPINK5_000082" "g.147499884dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000677428" "0" "50" "5" "147499677" "147499677" "subst" "0.000125925" "01804" "SPINK5_000040" "g.147499677T>G" "" "" "" "SPINK5(NM_001127698.1):c.2419T>G (p.C807G, p.(Cys807Gly)), SPINK5(NM_001127698.2):c.2419T>G (p.C807G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677429" "0" "50" "5" "147510934" "147510934" "subst" "0" "02325" "SPINK5_000083" "g.147510934T>C" "" "" "" "SPINK5(NM_001127698.2):c.3167T>C (p.M1056T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720248" "0" "50" "5" "147478792" "147478792" "subst" "0" "02325" "SPINK5_000084" "g.147478792T>G" "" "" "" "SPINK5(NM_006846.4):c.1011-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720249" "0" "30" "5" "147484535" "147484535" "subst" "0.00125514" "01804" "SPINK5_000026" "g.147484535G>A" "" "" "" "SPINK5(NM_001127698.1):c.1451G>A (p.(Arg484Lys)), SPINK5(NM_001127698.2):c.1451G>A (p.R484K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720250" "0" "30" "5" "147491402" "147491402" "subst" "0.00224654" "01804" "SPINK5_000030" "g.147491402T>G" "" "" "" "SPINK5(NM_001127698.1):c.1764T>G (p.(Ile588Met)), SPINK5(NM_001127698.2):c.1764T>G (p.I588M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720251" "0" "70" "5" "147492455" "147492458" "del" "0" "02329" "SPINK5_000065" "g.147492455_147492458del" "" "" "" "SPINK5(NM_001127698.2):c.1845_1848delAAGA (p.R616Lfs*98)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720252" "0" "30" "5" "147494001" "147494001" "subst" "0.00267023" "02325" "SPINK5_000031" "g.147494001G>A" "" "" "" "SPINK5(NM_001127698.1):c.1964G>A (p.G655D, p.(Gly655Asp)), SPINK5(NM_006846.4):c.1964G>A (p.G655D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720253" "0" "50" "5" "147504364" "147504364" "subst" "0" "01943" "SPINK5_000085" "g.147504364A>T" "" "" "" "SPINK5(NM_001127698.1):c.2703A>T (p.E901D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720254" "0" "30" "5" "147510853" "147510853" "subst" "8.12301E-6" "01804" "SPINK5_000086" "g.147510853T>G" "" "" "" "SPINK5(NM_001127698.1):c.3086T>G (p.(Leu1029Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720255" "0" "50" "5" "147513385" "147513385" "subst" "2.84315E-5" "01804" "SPINK5_000087" "g.147513385C>T" "" "" "" "SPINK5(NM_001127698.1):c.3211C>T (p.(Arg1071Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000733933" "0" "70" "5" "147443620" "147443620" "subst" "3.24923E-5" "04011" "SPINK5_000088" "g.147443620A>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000733934" "0" "70" "5" "147443620" "147443620" "subst" "3.24923E-5" "04011" "SPINK5_000088" "g.147443620A>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000733974" "0" "70" "5" "147486673" "147486673" "subst" "4.87452E-5" "04011" "SPINK5_000090" "g.147486673G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734026" "0" "70" "5" "147481380" "147481380" "subst" "0.000166901" "04011" "SPINK5_000089" "g.147481380G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734041" "0" "70" "5" "147510821" "147510821" "subst" "2.43724E-5" "04011" "SPINK5_000091" "g.147510821G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735503" "0" "70" "5" "147481380" "147481380" "subst" "0.000166901" "04011" "SPINK5_000089" "g.147481380G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735514" "0" "70" "5" "147499911" "147499911" "subst" "0" "04011" "SPINK5_000092" "g.147499911C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000801953" "0" "30" "5" "147498002" "147498002" "subst" "3.65518E-5" "01804" "SPINK5_000067" "g.147498002C>T" "" "" "" "SPINK5(NM_001127698.1):c.2115C>T (p.D705=, p.(Asp705=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801954" "0" "50" "5" "147503524" "147503524" "subst" "0" "01943" "SPINK5_000094" "g.147503524G>A" "" "" "" "SPINK5(NM_001127698.1):c.2666+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801955" "0" "30" "5" "147503528" "147503528" "subst" "0.000228337" "02325" "SPINK5_000095" "g.147503528G>A" "" "" "" "SPINK5(NM_006846.4):c.2666+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000846492" "3" "70" "5" "147475470" "147475470" "subst" "0" "00000" "SPINK5_000096" "g.147475470T>C" "" "{PMID:Alabdullatif 2017:27717089}" "" "SPINK5 c.882+2T>C," "homozygous" "Germline" "yes" "" "0" "" "" "g.148095907T>C" "" "likely pathogenic" "" "0000850822" "0" "50" "5" "147477443" "147477443" "subst" "4.07123E-6" "01943" "SPINK5_000098" "g.147477443A>G" "" "" "" "SPINK5(NM_001127698.1):c.896A>G (p.Q299R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850824" "0" "30" "5" "147493933" "147493933" "subst" "6.9185E-5" "01943" "SPINK5_000100" "g.147493933C>T" "" "" "" "SPINK5(NM_001127698.1):c.1896C>T (p.C632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850825" "0" "50" "5" "147499677" "147499677" "subst" "0.000125925" "01943" "SPINK5_000040" "g.147499677T>G" "" "" "" "SPINK5(NM_001127698.1):c.2419T>G (p.C807G, p.(Cys807Gly)), SPINK5(NM_001127698.2):c.2419T>G (p.C807G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859802" "0" "30" "5" "147449923" "147449923" "subst" "0.00273969" "02326" "SPINK5_000097" "g.147449923G>C" "" "" "" "SPINK5(NM_006846.3):c.119G>C (p.G40A), SPINK5(NM_006846.4):c.119G>C (p.(Gly40Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859803" "0" "50" "5" "147468146" "147468146" "subst" "8.14903E-6" "01804" "SPINK5_000005" "g.147468146G>A" "" "" "" "SPINK5(NM_001127698.1):c.452G>A (p.C151Y, p.(Cys151Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859804" "0" "70" "5" "147492500" "147492500" "subst" "0" "01804" "SPINK5_000099" "g.147492500A>T" "" "" "" "SPINK5(NM_001127698.1):c.1887+3A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859805" "0" "30" "5" "147497982" "147497982" "subst" "0.00341589" "02326" "SPINK5_000101" "g.147497982G>A" "" "" "" "SPINK5(NM_006846.3):c.2113-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859806" "0" "30" "5" "147499928" "147499945" "del" "0" "01804" "SPINK5_000102" "g.147499928_147499945del" "" "" "" "SPINK5(NM_001127698.1):c.2512_2529del (p.(Thr838_Asn843del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859807" "0" "30" "5" "147503518" "147503518" "subst" "0.0103754" "01804" "SPINK5_000079" "g.147503518C>G" "" "" "" "SPINK5(NM_001127698.1):c.2661C>G (p.(Ser887Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859808" "0" "30" "5" "147505308" "147505308" "subst" "0.00325366" "02326" "SPINK5_000103" "g.147505308A>G" "" "" "" "SPINK5(NM_006846.3):c.2762A>G (p.N921S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859809" "0" "30" "5" "147505333" "147505333" "subst" "4.06213E-6" "01943" "SPINK5_000104" "g.147505333C>T" "" "" "" "SPINK5(NM_001127698.1):c.2877C>T (p.I959=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859810" "0" "30" "5" "147506583" "147506583" "subst" "0.00252303" "02326" "SPINK5_000050" "g.147506583A>G" "" "" "" "SPINK5(NM_001127698.1):c.2995A>G (p.K999E, p.(Lys999Glu)), SPINK5(NM_001127698.2):c.2995A>G (p.K999E), SPINK5(NM_006846.3):c.2905A>G (p.K969E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886662" "0" "50" "5" "147451712" "147451712" "subst" "8.1485E-6" "02325" "SPINK5_000105" "g.147451712G>A" "" "" "" "SPINK5(NM_006846.4):c.211G>A (p.E71K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886663" "0" "30" "5" "147480056" "147480056" "subst" "0.000898856" "01804" "SPINK5_000017" "g.147480056A>C" "" "" "" "SPINK5(NM_001127698.1):c.1132A>C (p.K378Q, p.(Lys378Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886664" "0" "30" "5" "147486590" "147486590" "subst" "0.00015851" "02326" "SPINK5_000106" "g.147486590C>A" "" "" "" "SPINK5(NM_006846.3):c.1480-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886665" "0" "30" "5" "147505300" "147505300" "subst" "0.00266891" "02326" "SPINK5_000107" "g.147505300A>G" "" "" "" "SPINK5(NM_006846.3):c.2754A>G (p.E918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886666" "0" "30" "5" "147505410" "147505410" "subst" "0.00257474" "02326" "SPINK5_000075" "g.147505410T>C" "" "" "" "SPINK5(NM_001127698.1):c.2954T>C (p.(Val985Ala)), SPINK5(NM_006846.3):c.2864T>C (p.V955A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912255" "0" "90" "5" "147491370" "147491370" "subst" "4.46918E-5" "02325" "SPINK5_000108" "g.147491370C>T" "" "" "" "SPINK5(NM_006846.4):c.1732C>T (p.R578*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912256" "0" "50" "5" "147506548" "147506548" "del" "2.05807E-5" "01804" "SPINK5_000109" "g.147506548del" "" "" "" "SPINK5(NM_001127698.1):c.2960del (p.(Leu987Glnfs*46))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912257" "0" "90" "5" "147506563" "147506564" "ins" "0" "02325" "SPINK5_000110" "g.147506563_147506564insT" "" "" "" "SPINK5(NM_006846.4):c.2885_2886insT (p.E962Dfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912258" "0" "10" "5" "147513458" "147513458" "subst" "0.0023541" "02326" "SPINK5_000111" "g.147513458C>T" "" "" "" "SPINK5(NM_006846.3):c.3186+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924271" "0" "30" "5" "147473927" "147473927" "subst" "2.84923E-5" "01804" "SPINK5_000112" "g.147473927A>G" "" "" "" "SPINK5(NM_001127698.1):c.677A>G (p.(Lys226Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924272" "0" "10" "5" "147481363" "147481363" "subst" "0.0018159" "02326" "SPINK5_000022" "g.147481363G>A" "" "" "" "SPINK5(NM_001127698.1):c.1322G>A (p.(Arg441His)), SPINK5(NM_001127698.2):c.1322G>A (p.R441H), SPINK5(NM_006846.3):c.1322G>A (p.R441H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924273" "0" "30" "5" "147494065" "147494065" "subst" "2.03173E-5" "02326" "SPINK5_000032" "g.147494065A>G" "" "" "" "SPINK5(NM_001127698.2):c.2015+13A>G, SPINK5(NM_006846.3):c.2015+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924274" "0" "10" "5" "147496011" "147496013" "del" "0" "02326" "SPINK5_000033" "g.147496011_147496013del" "" "" "" "SPINK5(NM_001127698.1):c.2087_2089del (p.(Gly701del)), SPINK5(NM_001127698.2):c.2094_2096delTGG (p.G701del), SPINK5(NM_006846.3):c.2094_2096delTGG ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924275" "0" "30" "5" "147498531" "147498531" "subst" "4.8794E-5" "02326" "SPINK5_000113" "g.147498531C>T" "" "" "" "SPINK5(NM_006846.3):c.2241-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924276" "0" "30" "5" "147504324" "147504324" "subst" "0.00585554" "01804" "SPINK5_000073" "g.147504324G>A" "" "" "" "SPINK5(NM_001127698.1):c.2667-4G>A (p.?), SPINK5(NM_001127698.2):c.2667-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924277" "0" "10" "5" "147506573" "147506573" "subst" "0.00171915" "02326" "SPINK5_000044" "g.147506573G>A" "" "" "" "SPINK5(NM_001127698.2):c.2985G>A (p.K995=), SPINK5(NM_006846.3):c.2895G>A (p.K965=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929035" "0" "30" "5" "147470747" "147470747" "subst" "0" "02326" "SPINK5_000076" "g.147470747G>A" "" "" "" "SPINK5(NM_001127698.1):c.622G>A (p.A208T), SPINK5(NM_006846.3):c.622G>A (p.A208T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929036" "0" "30" "5" "147474000" "147474000" "subst" "0.000573236" "02326" "SPINK5_000114" "g.147474000C>T" "" "" "" "SPINK5(NM_006846.3):c.750C>T (p.D250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929037" "0" "70" "5" "147510875" "147510875" "subst" "4.06151E-6" "02326" "SPINK5_000115" "g.147510875T>A" "" "" "" "SPINK5(NM_006846.3):c.3018T>A (p.C1006*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948503" "0" "50" "5" "147480934" "147480934" "subst" "0" "01804" "SPINK5_000116" "g.147480934G>A" "" "" "" "SPINK5(NM_001127698.1):c.1237G>A (p.(Glu413Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963504" "0" "50" "5" "147444907" "147444907" "subst" "4.07359E-6" "01804" "SPINK5_000117" "g.147444907C>A" "" "" "" "SPINK5(NM_001127698.1):c.56-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963505" "0" "70" "5" "147466079" "147466080" "del" "0" "02326" "SPINK5_000001" "g.147466079_147466080del" "" "" "" "SPINK5(NM_006846.3):c.394_395delCT (p.L132Vfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000963506" "0" "70" "5" "147468814" "147468814" "subst" "0" "02327" "SPINK5_000118" "g.147468814T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000963507" "0" "70" "5" "147474045" "147474045" "del" "0" "02327" "SPINK5_000119" "g.147474045del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000963508" "0" "90" "5" "147477438" "147477438" "subst" "2.44343E-5" "02327" "SPINK5_000080" "g.147477438C>T" "" "" "" "SPINK5(NM_001127698.2):c.891C>T (p.C297=), SPINK5(NM_001127699.2):c.891C>T (p.C297=), SPINK5(NM_006846.4):c.891C>T (p.(Cys297=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963509" "0" "50" "5" "147477438" "147477438" "subst" "2.44343E-5" "02326" "SPINK5_000080" "g.147477438C>T" "" "" "" "SPINK5(NM_001127698.2):c.891C>T (p.C297=), SPINK5(NM_001127699.2):c.891C>T (p.C297=), SPINK5(NM_006846.4):c.891C>T (p.(Cys297=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963510" "0" "50" "5" "147478883" "147478883" "subst" "0" "02327" "SPINK5_000120" "g.147478883G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963511" "0" "90" "5" "147481003" "147481003" "subst" "2.44451E-5" "02327" "SPINK5_000121" "g.147481003A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963512" "0" "30" "5" "147486725" "147486725" "subst" "0.000719074" "01804" "SPINK5_000062" "g.147486725G>T" "" "" "" "SPINK5(NM_001127698.1):c.1605G>T (p.V535=, p.(=)), SPINK5(NM_006846.3):c.1605G>T (p.V535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963513" "0" "30" "5" "147486725" "147486725" "subst" "0.000719074" "02326" "SPINK5_000062" "g.147486725G>T" "" "" "" "SPINK5(NM_001127698.1):c.1605G>T (p.V535=, p.(=)), SPINK5(NM_006846.3):c.1605G>T (p.V535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963514" "0" "50" "5" "147488366" "147488366" "subst" "4.11194E-6" "01804" "SPINK5_000122" "g.147488366T>C" "" "" "" "SPINK5(NM_001127698.1):c.1658T>C (p.(Val553Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963515" "0" "90" "5" "147491370" "147491370" "subst" "4.46918E-5" "02327" "SPINK5_000108" "g.147491370C>T" "" "" "" "SPINK5(NM_006846.4):c.1732C>T (p.R578*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963516" "0" "90" "5" "147491511" "147491511" "subst" "0" "02327" "SPINK5_000123" "g.147491511G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963517" "0" "90" "5" "147493922" "147493922" "subst" "8.14651E-6" "02327" "SPINK5_000124" "g.147493922T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963518" "0" "90" "5" "147498128" "147498128" "subst" "1.62546E-5" "02327" "SPINK5_000125" "g.147498128G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963519" "0" "90" "5" "147499903" "147499906" "dup" "0" "02327" "SPINK5_000071" "g.147499903_147499906dup" "" "" "" "SPINK5(NM_001127698.1):c.2487_2490dupGAGC (p.N831Efs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000994767" "0" "30" "5" "147486672" "147486672" "subst" "0.0023966" "01804" "SPINK5_000126" "g.147486672C>T" "" "" "" "SPINK5(NM_006846.3):c.1552C>T (p.(Arg518Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014093" "0" "90" "5" "147470774" "147470774" "subst" "2.45791E-5" "02327" "SPINK5_000007" "g.147470774C>T" "" "" "" "SPINK5(NM_001127698.2):c.649C>T (p.R217*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025053" "0" "90" "5" "147496015" "147496015" "subst" "1.62463E-5" "02327" "SPINK5_000127" "g.147496015G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025054" "0" "90" "5" "147503468" "147503468" "subst" "4.06603E-6" "02327" "SPINK5_000128" "g.147503468C>T" "" "" "" "SPINK5(NM_006846.4):c.2611C>T (p.(Arg871*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034986" "0" "10" "5" "147449923" "147449923" "subst" "0.00273969" "01804" "SPINK5_000097" "g.147449923G>C" "" "" "" "SPINK5(NM_006846.3):c.119G>C (p.G40A), SPINK5(NM_006846.4):c.119G>C (p.(Gly40Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034987" "0" "50" "5" "147470791" "147470791" "subst" "8.20648E-6" "01804" "SPINK5_000129" "g.147470791G>T" "" "" "" "SPINK5(NM_006846.4):c.666G>T (p.(Lys222Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034988" "0" "50" "5" "147477438" "147477438" "subst" "2.44343E-5" "01804" "SPINK5_000080" "g.147477438C>T" "" "" "" "SPINK5(NM_001127698.2):c.891C>T (p.C297=), SPINK5(NM_001127699.2):c.891C>T (p.C297=), SPINK5(NM_006846.4):c.891C>T (p.(Cys297=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034989" "0" "70" "5" "147477504" "147477507" "dup" "0" "01804" "SPINK5_000130" "g.147477504_147477507dup" "" "" "" "SPINK5(NM_006846.4):c.957_960dup (p.(Pro321Trpfs*23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034990" "0" "90" "5" "147484503" "147484503" "subst" "3.35461E-5" "02325" "SPINK5_000025" "g.147484503G>A" "" "" "" "SPINK5(NM_001127698.2):c.1431-12G>A, SPINK5(NM_006846.3):c.1431-12G>A, SPINK5(NM_006846.4):c.1431-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034991" "0" "30" "5" "147484505" "147484505" "subst" "7.88055E-5" "01804" "SPINK5_000131" "g.147484505T>G" "" "" "" "SPINK5(NM_006846.4):c.1431-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034992" "0" "50" "5" "147491412" "147491412" "subst" "2.03135E-5" "01804" "SPINK5_000132" "g.147491412G>C" "" "" "" "SPINK5(NM_006846.4):c.1774G>C (p.(Asp592His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046017" "0" "50" "5" "147503508" "147503508" "subst" "3.6605E-5" "02325" "SPINK5_000133" "g.147503508T>C" "" "" "" "SPINK5(NM_006846.4):c.2651T>C (p.M884T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052146" "0" "50" "5" "147498098" "147498100" "del" "0" "01804" "SPINK5_000134" "g.147498098_147498100del" "" "" "" "SPINK5(NM_006846.4):c.2211_2213del (p.(Asn738del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052147" "0" "90" "5" "147499884" "147499884" "dup" "0" "01804" "SPINK5_000082" "g.147499884dup" "" "" "" "SPINK5(NM_006846.4):c.2468dup (p.(Lys824GlufsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001052148" "0" "90" "5" "147503468" "147503468" "subst" "4.06603E-6" "01804" "SPINK5_000128" "g.147503468C>T" "" "" "" "SPINK5(NM_006846.4):c.2611C>T (p.(Arg871*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001052149" "0" "30" "5" "147504410" "147504410" "del" "0" "01804" "SPINK5_000135" "g.147504410del" "" "" "" "SPINK5(NM_001127699.2):c.2749del (p.(Ter917LysextTer?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001059207" "0" "90" "5" "147466074" "147466077" "dup" "0" "00006" "SPINK5_000136" "g.147466074_147466077dup" "" "{PMID:Retterer 2016:26633542}" "" "389_392dupGTGC" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.148086511_148086514dup" "" "pathogenic" "" "0001064433" "0" "90" "5" "147449957" "147449957" "del" "0" "02325" "SPINK5_000137" "g.147449957del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001064434" "0" "50" "5" "147481362" "147481362" "subst" "2.85012E-5" "02325" "SPINK5_000138" "g.147481362C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001071044" "0" "50" "5" "147499681" "147499681" "subst" "1.21866E-5" "00006" "SPINK5_000093" "g.147499681C>T" "" "{PMID:Nair 2018:30293248}" "" "" "possible combination of variants not reported" "Germline/De novo (untested)" "" "rs1212676320" "0" "" "" "g.148120118C>T" "" "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 SPINK5 ## Count = 187 "{{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}}" "0000169415" "00020189" "00" "394" "0" "395" "0" "c.394_395del" "r.(?)" "p.(Leu132Valfs*3)" "" "0000169415" "00026097" "70" "394" "0" "395" "0" "c.394_395del" "r.(?)" "p.(Leu132Valfs*3)" "" "0000248085" "00020189" "30" "2243" "0" "2243" "0" "c.2243A>G" "r.(?)" "p.(Glu748Gly)" "" "0000248549" "00020189" "10" "1389" "0" "1389" "0" "c.1389A>G" "r.(?)" "p.(Gly463=)" "" "0000248815" "00020189" "10" "1258" "0" "1258" "0" "c.1258A>G" "r.(?)" "p.(Lys420Glu)" "" "0000248818" "00020189" "10" "2995" "0" "2995" "0" "c.2995A>G" "r.(?)" "p.(Lys999Glu)" "" "0000248879" "00020189" "10" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Gln267Arg)" "" "0000249061" "00020189" "10" "475" "-443" "475" "-443" "c.475-443A>G" "r.(=)" "p.(=)" "" "0000249062" "00020189" "10" "882" "20" "882" "20" "c.882+20A>G" "r.(=)" "p.(=)" "" "0000249063" "00020189" "10" "2667" "-13" "2667" "-12" "c.2667-13_2667-12insT" "r.(=)" "p.(=)" "" "0000249064" "00020189" "10" "2667" "-13" "2667" "-13" "c.2667-13delinsTT" "r.(=)" "p.(=)" "" "0000249536" "00020189" "30" "2015" "13" "2015" "13" "c.2015+13A>G" "r.(=)" "p.(=)" "" "0000250776" "00020189" "30" "2243" "0" "2243" "0" "c.2243A>G" "r.(?)" "p.(Glu748Gly)" "" "0000251078" "00020189" "10" "3005" "0" "3005" "0" "c.3005A>G" "r.(?)" "p.(His1002Arg)" "" "0000251834" "00020189" "30" "2531" "0" "2531" "0" "c.2531A>G" "r.(?)" "p.(Asp844Gly)" "" "0000252094" "00020189" "30" "2667" "-12" "2667" "-12" "c.2667-12del" "r.(=)" "p.(=)" "" "0000253995" "00020189" "30" "2243" "0" "2243" "0" "c.2243A>G" "r.(?)" "p.(Glu748Gly)" "" "0000254611" "00020189" "30" "1132" "0" "1132" "0" "c.1132A>C" "r.(?)" "p.(Lys378Gln)" "" "0000311504" "00020189" "30" "-19" "0" "-19" "0" "c.-19G>A" "r.(?)" "p.(=)" "" "0000311505" "00020189" "10" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" "0000311506" "00020189" "10" "1011" "-12" "1011" "-12" "c.1011-12C>T" "r.(=)" "p.(=)" "" "0000311507" "00020189" "10" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Ser368Asn)" "" "0000311508" "00020189" "10" "1188" "0" "1188" "0" "c.1188T>C" "r.(?)" "p.(His396=)" "" "0000311509" "00020189" "10" "1302" "19" "1302" "19" "c.1302+19G>A" "r.(=)" "p.(=)" "" "0000311510" "00020189" "30" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441His)" "" "0000311511" "00020189" "10" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Gly519=)" "" "0000311512" "00020189" "10" "1659" "0" "1659" "0" "c.1659C>T" "r.(?)" "p.(Val553=)" "" "0000311513" "00020189" "30" "1693" "-7" "1693" "-7" "c.1693-7T>C" "r.(=)" "p.(=)" "" "0000311514" "00020189" "30" "2094" "0" "2096" "0" "c.2094_2096del" "r.(?)" "p.(Gly701del)" "" "0000311515" "00020189" "10" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Arg711Gln)" "" "0000311516" "00020189" "10" "2358" "0" "2358" "0" "c.2358C>T" "r.(?)" "p.(Leu786=)" "" "0000311517" "00020189" "10" "2412" "0" "2412" "0" "c.2412C>T" "r.(?)" "p.(Gly804=)" "" "0000311518" "00020189" "10" "2667" "-14" "2667" "-14" "c.2667-14dup" "r.(=)" "p.(=)" "" "0000311519" "00020189" "10" "2769" "0" "2769" "0" "c.2769G>A" "r.(?)" "p.(Ala923=)" "" "0000311520" "00020189" "30" "2985" "0" "2985" "0" "c.2985G>A" "r.(?)" "p.(Lys995=)" "" "0000311521" "00020189" "10" "3099" "0" "3099" "0" "c.3099T>C" "r.(?)" "p.(Gly1033=)" "" "0000311522" "00020189" "50" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Trp)" "" "0000311523" "00020189" "10" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(Val246=)" "" "0000311524" "00020189" "30" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "" "0000313874" "00020189" "70" "1431" "-12" "1431" "-12" "c.1431-12G>A" "r.(=)" "p.(=)" "" "0000313875" "00020189" "30" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Lys)" "" "0000313876" "00020189" "10" "1764" "0" "1764" "0" "c.1764T>G" "r.(?)" "p.(Ile588Met)" "" "0000313877" "00020189" "10" "2241" "-6" "2241" "-6" "c.2241-6C>T" "r.(=)" "p.(=)" "" "0000313878" "00020189" "50" "2419" "0" "2419" "0" "c.2419T>G" "r.(?)" "p.(Cys807Gly)" "" "0000313879" "00020189" "10" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Asp106Asn)" "" "0000313880" "00020189" "30" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Arg)" "" "0000313881" "00020189" "90" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Ter)" "" "0000313882" "00020189" "90" "794" "6" "794" "6" "c.794+6T>C" "r.(=)" "p.(=)" "" "0000313883" "00020189" "10" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "" "0000315601" "00020189" "10" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Asp386Asn)" "" "0000315602" "00020189" "50" "1401" "0" "1401" "0" "c.1401C>T" "r.(?)" "p.(Gly467=)" "" "0000315603" "00020189" "50" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Gly655Asp)" "" "0000315604" "00020189" "30" "2127" "0" "2127" "0" "c.2127G>A" "r.(?)" "p.(Glu709=)" "" "0000315606" "00020189" "50" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Cys151Tyr)" "" "0000315607" "00020189" "30" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "" "0000524706" "00020189" "30" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Val6Ala)" "" "0000524708" "00020189" "90" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Glu242Ter)" "" "0000524709" "00020189" "30" "799" "0" "799" "0" "c.799C>A" "r.(?)" "p.(Gln267Lys)" "" "0000524710" "00020189" "30" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "" "0000524711" "00020189" "10" "1093" "-10" "1093" "-10" "c.1093-10A>G" "r.(=)" "p.(=)" "" "0000524712" "00020189" "30" "1093" "-6" "1093" "-6" "c.1093-6C>T" "r.(=)" "p.(=)" "" "0000524713" "00020189" "30" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441His)" "" "0000524715" "00020189" "50" "1379" "0" "1379" "0" "c.1379G>T" "r.(?)" "p.(Gly460Val)" "" "0000524716" "00020189" "30" "1431" "-12" "1431" "-12" "c.1431-12G>T" "r.(=)" "p.(=)" "" "0000524717" "00020189" "90" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Gln478Ter)" "" "0000524718" "00020189" "30" "1480" "-3" "1480" "-3" "c.1480-3C>T" "r.spl?" "p.?" "" "0000524719" "00020189" "30" "1605" "0" "1605" "0" "c.1605G>T" "r.(?)" "p.(Val535=)" "" "0000524720" "00020189" "30" "1693" "-20" "1693" "-20" "c.1693-20G>A" "r.(=)" "p.(=)" "" "0000524721" "00020189" "30" "1693" "-19" "1693" "-19" "c.1693-19C>T" "r.(=)" "p.(=)" "" "0000524723" "00020189" "30" "1915" "0" "1915" "0" "c.1915T>C" "r.(?)" "p.(Leu639=)" "" "0000524724" "00020189" "30" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Gly655Asp)" "" "0000524725" "00020189" "30" "2094" "0" "2096" "0" "c.2094_2096del" "r.(?)" "p.(Gly701del)" "" "0000524726" "00020189" "30" "2115" "0" "2115" "0" "c.2115C>T" "r.(?)" "p.(Asp705=)" "" "0000524727" "00020189" "30" "2124" "0" "2124" "0" "c.2124T>C" "r.(?)" "p.(Ala708=)" "" "0000524728" "00020189" "30" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Gln)" "" "0000524729" "00020189" "10" "2241" "-6" "2241" "-6" "c.2241-6C>T" "r.(=)" "p.(=)" "" "0000524730" "00020189" "30" "2243" "0" "2243" "0" "c.2243A>G" "r.(?)" "p.(Glu748Gly)" "" "0000524731" "00020189" "50" "2468" "0" "2468" "0" "c.2468del" "r.(?)" "p.(Lys823ArgfsTer119)" "" "0000524732" "00020189" "90" "2487" "0" "2490" "0" "c.2487_2490dup" "r.(?)" "p.(Asn831GlufsTer15)" "" "0000524733" "00020189" "30" "2667" "-6" "2667" "-6" "c.2667-6C>T" "r.(=)" "p.(=)" "" "0000524734" "00020189" "30" "2667" "-4" "2667" "-4" "c.2667-4G>A" "r.spl?" "p.?" "" "0000524735" "00020189" "30" "2667" "-4" "2667" "-4" "c.2667-4G>A" "r.spl?" "p.?" "" "0000524736" "00020189" "30" "2798" "0" "2798" "0" "c.2798G>A" "r.(?)" "p.(Arg933His)" "" "0000524737" "00020189" "30" "2954" "0" "2954" "0" "c.2954T>C" "r.(?)" "p.(Val985Ala)" "" "0000524738" "00020189" "10" "2995" "0" "2995" "0" "c.2995A>G" "r.(?)" "p.(Lys999Glu)" "" "0000524739" "00020189" "30" "2995" "0" "2995" "0" "c.2995A>G" "r.(?)" "p.(Lys999Glu)" "" "0000524740" "00020189" "30" "3005" "0" "3005" "0" "c.3005A>G" "r.(?)" "p.(His1002Arg)" "" "0000609560" "00020189" "30" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0000621500" "00020189" "50" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(Gly251=)" "" "0000621501" "00020189" "50" "1960" "0" "1960" "0" "c.1960C>T" "r.(?)" "p.(Arg654Cys)" "" "0000651632" "00020189" "30" "2661" "0" "2661" "0" "c.2661C>G" "r.(?)" "p.(Ser887Arg)" "" "0000651632" "00026097" "30" "2661" "0" "2661" "0" "c.2661C>G" "r.(?)" "p.(Ser887Arg)" "" "0000651633" "00020189" "30" "3005" "0" "3005" "0" "c.3005A>G" "r.(?)" "p.(His1002Arg)" "" "0000651633" "00026097" "30" "2915" "0" "2915" "0" "c.2915A>G" "r.(?)" "p.(His972Arg)" "" "0000655320" "00020189" "90" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Cys297=)" "" "0000673937" "00020189" "90" "377" "0" "378" "0" "c.377_378del" "r.(?)" "p.(Tyr126*)" "" "0000673938" "00020189" "90" "2468" "0" "2468" "0" "c.2468dup" "r.(?)" "p.(Lys824Glufs*4)" "" "0000677428" "00020189" "50" "2419" "0" "2419" "0" "c.2419T>G" "r.(?)" "p.(Cys807Gly)" "" "0000677429" "00020189" "50" "3167" "0" "3167" "0" "c.3167T>C" "r.(?)" "p.(Met1056Thr)" "" "0000720248" "00020189" "50" "1011" "-5" "1011" "-5" "c.1011-5T>G" "r.spl?" "p.?" "" "0000720249" "00020189" "30" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Lys)" "" "0000720250" "00020189" "30" "1764" "0" "1764" "0" "c.1764T>G" "r.(?)" "p.(Ile588Met)" "" "0000720251" "00020189" "70" "1845" "0" "1848" "0" "c.1845_1848del" "r.(?)" "p.(Arg616LeufsTer98)" "" "0000720252" "00020189" "30" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Gly655Asp)" "" "0000720253" "00020189" "50" "2703" "0" "2703" "0" "c.2703A>T" "r.(?)" "p.(Glu901Asp)" "" "0000720254" "00020189" "30" "3086" "0" "3086" "0" "c.3086T>G" "r.(?)" "p.(Leu1029Trp)" "" "0000720255" "00020189" "50" "3211" "0" "3211" "0" "c.3211C>T" "r.(?)" "p.(Arg1071Cys)" "" "0000733933" "00020189" "50" "13" "0" "13" "0" "c.13A>C" "r.(?)" "p.(Thr5Pro)" "" "0000733934" "00020189" "50" "13" "0" "13" "0" "c.13A>C" "r.(?)" "p.(Thr5Pro)" "" "0000733974" "00020189" "50" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518His)" "" "0000734026" "00020189" "50" "1339" "0" "1339" "0" "c.1339G>A" "r.(?)" "p.(Gly447Arg)" "" "0000734041" "00020189" "50" "3055" "-1" "3055" "-1" "c.3055-1G>A" "r.spl?" "p.?" "" "0000735503" "00020189" "50" "1339" "0" "1339" "0" "c.1339G>A" "r.(?)" "p.(Gly447Arg)" "" "0000735514" "00020189" "50" "2495" "0" "2495" "0" "c.2495C>A" "r.(?)" "p.(Thr832Lys)" "" "0000801953" "00020189" "30" "2115" "0" "2115" "0" "c.2115C>T" "r.(?)" "p.(Asp705=)" "" "0000801954" "00020189" "50" "2666" "1" "2666" "1" "c.2666+1G>A" "r.spl?" "p.?" "" "0000801955" "00020189" "30" "2666" "5" "2666" "5" "c.2666+5G>A" "r.spl?" "p.?" "" "0000846492" "00020189" "70" "882" "2" "882" "2" "c.882+2T>C" "r.(?)" "p.(?)" "" "0000846492" "00026097" "70" "882" "2" "882" "2" "c.882+2T>C" "r.spl?" "p.?" "" "0000850822" "00020189" "50" "896" "0" "896" "0" "c.896A>G" "r.(?)" "p.(Gln299Arg)" "" "0000850824" "00020189" "30" "1896" "0" "1896" "0" "c.1896C>T" "r.(?)" "p.(Cys632=)" "" "0000850825" "00020189" "50" "2419" "0" "2419" "0" "c.2419T>G" "r.(?)" "p.(Cys807Gly)" "" "0000859802" "00020189" "30" "119" "0" "119" "0" "c.119G>C" "r.(?)" "p.(Gly40Ala)" "" "0000859803" "00020189" "50" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Cys151Tyr)" "" "0000859804" "00020189" "70" "1887" "3" "1887" "3" "c.1887+3A>T" "r.spl?" "p.?" "" "0000859805" "00020189" "30" "2113" "-18" "2113" "-18" "c.2113-18G>A" "r.(=)" "p.(=)" "" "0000859806" "00020189" "30" "2512" "0" "2529" "0" "c.2512_2529del" "r.(?)" "p.(Thr838_Asn843del)" "" "0000859807" "00020189" "30" "2661" "0" "2661" "0" "c.2661C>G" "r.(?)" "p.(Ser887Arg)" "" "0000859808" "00020189" "30" "2852" "0" "2852" "0" "c.2852A>G" "r.(?)" "p.(Asn951Ser)" "" "0000859809" "00020189" "30" "2877" "0" "2877" "0" "c.2877C>T" "r.(?)" "p.(Ile959=)" "" "0000859810" "00020189" "30" "2995" "0" "2995" "0" "c.2995A>G" "r.(?)" "p.(Lys999Glu)" "" "0000886662" "00020189" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Glu71Lys)" "" "0000886663" "00020189" "30" "1132" "0" "1132" "0" "c.1132A>C" "r.(?)" "p.(Lys378Gln)" "" "0000886664" "00020189" "30" "1480" "-10" "1480" "-10" "c.1480-10C>A" "r.(=)" "p.(=)" "" "0000886665" "00020189" "30" "2844" "0" "2844" "0" "c.2844A>G" "r.(?)" "p.(Glu948=)" "" "0000886666" "00020189" "30" "2954" "0" "2954" "0" "c.2954T>C" "r.(?)" "p.(Val985Ala)" "" "0000912255" "00020189" "90" "1732" "0" "1732" "0" "c.1732C>T" "r.(?)" "p.(Arg578*)" "" "0000912256" "00020189" "50" "2960" "0" "2960" "0" "c.2960del" "r.(?)" "p.(Leu987Glnfs*46)" "" "0000912257" "00020189" "90" "2975" "0" "2976" "0" "c.2975_2976insT" "r.(?)" "p.(Glu992Aspfs*13)" "" "0000912258" "00020189" "10" "3276" "8" "3276" "8" "c.3276+8C>T" "r.(=)" "p.(=)" "" "0000924271" "00020189" "30" "677" "0" "677" "0" "c.677A>G" "r.(?)" "p.(Lys226Arg)" "" "0000924272" "00020189" "10" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441His)" "" "0000924273" "00020189" "30" "2015" "13" "2015" "13" "c.2015+13A>G" "r.(=)" "p.(=)" "" "0000924274" "00020189" "10" "2094" "0" "2096" "0" "c.2094_2096del" "r.(?)" "p.(Gly701del)" "" "0000924275" "00020189" "30" "2241" "-18" "2241" "-18" "c.2241-18C>T" "r.(=)" "p.(=)" "" "0000924276" "00020189" "30" "2667" "-4" "2667" "-4" "c.2667-4G>A" "r.spl?" "p.?" "" "0000924277" "00020189" "10" "2985" "0" "2985" "0" "c.2985G>A" "r.(?)" "p.(Lys995=)" "" "0000929035" "00020189" "30" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0000929036" "00020189" "30" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(=)" "" "0000929037" "00020189" "70" "3108" "0" "3108" "0" "c.3108T>A" "r.(?)" "p.(Cys1036*)" "" "0000948503" "00020189" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Glu413Lys)" "" "0000963504" "00020189" "50" "56" "-3" "56" "-3" "c.56-3C>A" "r.spl?" "p.?" "" "0000963505" "00020189" "70" "394" "0" "395" "0" "c.394_395del" "r.(?)" "p.(Leu132Valfs*3)" "" "0000963506" "00020189" "70" "475" "-243" "475" "-243" "c.475-243T>G" "r.(=)" "p.(=)" "" "0000963507" "00020189" "70" "794" "1" "794" "1" "c.794+1del" "r.spl?" "p.?" "" "0000963508" "00020189" "90" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Cys297=)" "" "0000963509" "00020189" "50" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Cys297=)" "" "0000963510" "00020189" "50" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.?" "" "0000963511" "00020189" "90" "1302" "4" "1302" "4" "c.1302+4A>T" "r.spl?" "p.?" "" "0000963512" "00020189" "30" "1605" "0" "1605" "0" "c.1605G>T" "r.(?)" "p.(Val535=)" "" "0000963513" "00020189" "30" "1605" "0" "1605" "0" "c.1605G>T" "r.(?)" "p.(Val535=)" "" "0000963514" "00020189" "50" "1658" "0" "1658" "0" "c.1658T>C" "r.(?)" "p.(Val553Ala)" "" "0000963515" "00020189" "90" "1732" "0" "1732" "0" "c.1732C>T" "r.(?)" "p.(Arg578*)" "" "0000963516" "00020189" "90" "1820" "53" "1820" "53" "c.1820+53G>A" "r.(=)" "p.(=)" "" "0000963517" "00020189" "90" "1888" "-3" "1888" "-3" "c.1888-3T>C" "r.spl?" "p.?" "" "0000963518" "00020189" "90" "2240" "1" "2240" "1" "c.2240+1G>A" "r.spl?" "p.?" "" "0000963519" "00020189" "90" "2487" "0" "2490" "0" "c.2487_2490dup" "r.(?)" "p.(Asn831GlufsTer15)" "" "0000994767" "00020189" "30" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Cys)" "" "0001014093" "00020189" "90" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Ter)" "" "0001025053" "00020189" "90" "2098" "0" "2098" "0" "c.2098G>T" "r.(?)" "p.(Gly700*)" "" "0001025054" "00020189" "90" "2611" "0" "2611" "0" "c.2611C>T" "r.(?)" "p.(Arg871*)" "" "0001034986" "00020189" "10" "119" "0" "119" "0" "c.119G>C" "r.(?)" "p.(Gly40Ala)" "" "0001034987" "00020189" "50" "666" "0" "666" "0" "c.666G>T" "r.(?)" "p.(Lys222Asn)" "" "0001034988" "00020189" "50" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Cys297=)" "" "0001034989" "00020189" "70" "957" "0" "960" "0" "c.957_960dup" "r.(?)" "p.(Pro321Trpfs*23)" "" "0001034990" "00020189" "90" "1431" "-12" "1431" "-12" "c.1431-12G>A" "r.(=)" "p.(=)" "" "0001034991" "00020189" "30" "1431" "-10" "1431" "-10" "c.1431-10T>G" "r.(=)" "p.(=)" "" "0001034992" "00020189" "50" "1774" "0" "1774" "0" "c.1774G>C" "r.(?)" "p.(Asp592His)" "" "0001046017" "00020189" "50" "2651" "0" "2651" "0" "c.2651T>C" "r.(?)" "p.(Met884Thr)" "" "0001052146" "00020189" "50" "2211" "0" "2213" "0" "c.2211_2213del" "r.(?)" "p.(Asn738del)" "" "0001052147" "00020189" "90" "2468" "0" "2468" "0" "c.2468dup" "r.(?)" "p.(Lys824Glufs*4)" "" "0001052148" "00020189" "90" "2611" "0" "2611" "0" "c.2611C>T" "r.(?)" "p.(Arg871*)" "" "0001052149" "00020189" "30" "2739" "10" "2739" "10" "c.2739+10del" "r.(=)" "p.(=)" "" "0001059207" "00020189" "90" "389" "0" "392" "0" "c.389_392dup" "r.(?)" "p.(Leu132CysfsTer5)" "" "0001064433" "00020189" "90" "153" "0" "153" "0" "c.153del" "r.(?)" "p.(Gln52Lysfs*6)" "" "0001064434" "00020189" "50" "1321" "0" "1321" "0" "c.1321C>T" "r.(?)" "p.(Arg441Cys)" "" "0001071044" "00020189" "50" "2423" "0" "2423" "0" "c.2423C>T" "r.(?)" "p.(Thr808Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000104504" "0000169415" "0000294943" "0000651632" "0000294944" "0000651633" "0000307320" "0000673937" "0000307320" "0000673938" "0000335513" "0000733933" "0000335513" "0000733934" "0000335524" "0000733974" "0000335539" "0000734026" "0000335544" "0000734041" "0000336263" "0000735503" "0000336266" "0000735514" "0000409338" "0000846492" "0000471085" "0001059207" "0000476269" "0001071044"