### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UNC13D) # 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}}" "UNC13D" "unc-13 homolog D (C. elegans)" "17" "q25.3" "unknown" "NG_007266.1" "UD_129009058539" "" "https://www.LOVD.nl/UNC13D" "" "1" "23147" "201294" "608897" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/UNC13D_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-02-25 07:33:23" "00000" "2025-11-01 13:22:20" ## 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}}" "00022387" "UNC13D" "unc-13 homolog D (C. elegans)" "001" "NM_199242.2" "" "NP_954712.1" "" "" "" "-380" "4013" "3273" "73840798" "73823306" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "02801" "FHL3" "lymphohistiocytosis, hemophagocytic, familial, type 3 (FHL-3)" "AR" "608898" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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 = 1 "{{geneid}}" "{{diseaseid}}" "UNC13D" "02801" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00291848" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291849" "" "" "" "74" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291850" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291851" "" "" "" "102" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303520" "" "" "" "1" "" "00006" "{PMID:Gernez 2019:31271789}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat3" "00304601" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334301" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334310" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334326" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334348" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334405" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334498" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334851" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334874" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334903" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334942" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334944" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335013" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335019" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335020" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00436783" "" "" "" "1" "" "04568" "" "1-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "Asia-E" "" "00460982" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00291848" "00198" "00291849" "00198" "00291850" "00198" "00291851" "00198" "00303520" "00198" "00304601" "00198" "00334301" "05793" "00334310" "05793" "00334326" "05793" "00334348" "05793" "00334405" "05793" "00334498" "05793" "00334851" "05793" "00334874" "05793" "00334903" "05793" "00334942" "05793" "00334944" "05793" "00335013" "05793" "00335019" "05793" "00335020" "05793" "00436783" "02801" "00460982" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02801, 05793 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000230597" "00198" "00303520" "00006" "Isolated (sporadic)" "6y" "see paper; ..., no developmental delay; no structural brain anomalies; growth retardation; no facial dysmorphism; no sensorineural deafness; no camptodactily; no hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; inflammation; Cytopenias, skin rash, HLH, brain hemorrhage, hepatosplenomegaly, recurrent fever" "" "" "" "" "" "" "" "" "" "" "" "0000253111" "05793" "00334301" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253120" "05793" "00334310" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253136" "05793" "00334326" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253143" "05793" "00334348" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253188" "05793" "00334405" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253211" "05793" "00334498" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253248" "05793" "00334851" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253268" "05793" "00334874" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253272" "05793" "00334903" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253285" "05793" "00334942" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253286" "05793" "00334944" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253295" "05793" "00335013" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253301" "05793" "00335019" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253302" "05793" "00335020" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000326908" "02801" "00436783" "04568" "Isolated (sporadic)" "00y00m19d00h" "premature birth reduced hemoglobin, thrombocytopenia purpura ascites, splenomegaly" "00y00m19d00h" "00y02m09d00h" "" "" "" "" "" "" "FHL3" "hemophagocytic syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293016" "00291848" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293017" "00291849" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293018" "00291850" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293019" "00291851" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304648" "00303520" "1" "00006" "00006" "2020-06-15 17:08:24" "" "" "SEQ" "DNA" "" "" "0000305730" "00304601" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335528" "00334301" "1" "04011" "04011" "2021-02-27 06:23:18" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335538" "00334310" "1" "04011" "04011" "2021-02-27 07:17:45" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335554" "00334326" "1" "04011" "04011" "2021-02-27 14:56:08" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335576" "00334348" "1" "04011" "04011" "2021-02-28 03:24:44" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335634" "00334405" "1" "04011" "04011" "2021-02-28 14:06:29" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335727" "00334498" "1" "04011" "04011" "2021-03-01 06:59:25" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336080" "00334851" "1" "04011" "04011" "2021-03-02 03:39:59" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336103" "00334874" "1" "04011" "04011" "2021-03-02 09:41:12" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336132" "00334903" "1" "04011" "04011" "2021-03-02 12:26:37" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336172" "00334942" "1" "04011" "04011" "2021-03-02 14:16:16" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336173" "00334944" "1" "04011" "04011" "2021-03-02 14:20:54" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336242" "00335013" "1" "04011" "04011" "2021-03-03 02:01:27" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336248" "00335019" "1" "04011" "04011" "2021-03-03 03:07:46" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336249" "00335020" "1" "04011" "04011" "2021-03-03 03:13:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000438261" "00436783" "1" "04568" "04568" "2023-10-07 04:10:10" "" "" "SEQ" "DNA" "Peripheral Blood" "" "0000462614" "00460982" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000304648" "CDC42" "0000438261" "UNC13D" "0000462614" "UNC13D" ## 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 = 159 "{{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}}" "0000251612" "0" "10" "17" "73830990" "73830990" "subst" "0.00301423" "02326" "UNC13D_000016" "g.73830990A>G" "" "" "" "UNC13D(NM_199242.2):c.1992+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75834909A>G" "" "benign" "" "0000251613" "0" "10" "17" "73832375" "73832375" "subst" "0.0226679" "02326" "UNC13D_000020" "g.73832375A>G" "" "" "" "UNC13D(NM_199242.2):c.1390-38T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75836294A>G" "" "benign" "" "0000251614" "0" "10" "17" "73836086" "73836086" "subst" "0.0185616" "02326" "UNC13D_000024" "g.73836086A>C" "" "" "" "UNC13D(NM_199242.2):c.951+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75840005A>C" "" "benign" "" "0000252302" "0" "30" "17" "73830094" "73830094" "subst" "0" "02326" "UNC13D_000012" "g.73830094A>G" "" "" "" "UNC13D(NM_199242.2):c.2367+62T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75834013A>G" "" "likely benign" "" "0000253922" "0" "10" "17" "73839355" "73839355" "subst" "0.00269939" "01943" "UNC13D_000036" "g.73839355A>T" "" "" "" "UNC13D(NM_199242.2):c.154-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75843274A>T" "" "benign" "" "0000255124" "0" "30" "17" "73836897" "73836897" "subst" "0.000385834" "01943" "UNC13D_000030" "g.73836897A>C" "" "" "" "UNC13D(NM_199242.2):c.629T>G (p.V210G), UNC13D(NM_199242.3):c.629T>G (p.V210G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75840816A>C" "" "likely benign" "" "0000312942" "0" "10" "17" "73839366" "73839366" "subst" "0.243608" "02325" "UNC13D_000037" "g.73839366C>T" "" "" "" "UNC13D(NM_199242.2):c.154-19G>A, UNC13D(NM_199242.3):c.154-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75843285C>T" "" "benign" "" "0000312943" "0" "10" "17" "73827440" "73827440" "dup" "0" "02325" "UNC13D_000010" "g.73827440dup" "" "" "" "UNC13D(NM_199242.2):c.2448-8dupC, UNC13D(NM_199242.3):c.2448-8dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75831359dup" "" "benign" "" "0000312944" "0" "10" "17" "73827205" "73827205" "subst" "0.351264" "02325" "UNC13D_000009" "g.73827205T>C" "" "" "" "UNC13D(NM_199242.2):c.2599A>G (p.K867E), UNC13D(NM_199242.3):c.2599A>G (p.K867E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75831124T>C" "" "benign" "" "0000312945" "0" "10" "17" "73824121" "73824121" "subst" "0.383012" "02325" "UNC13D_000001" "g.73824121T>C" "" "" "" "UNC13D(NM_199242.2):c.3198A>G (p.E1066=), UNC13D(NM_199242.3):c.3198A>G (p.E1066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75828040T>C" "" "benign" "" "0000312946" "0" "10" "17" "73836162" "73836162" "subst" "0.352405" "02325" "UNC13D_000027" "g.73836162C>G" "" "" "" "UNC13D(NM_199242.2):c.888G>C (p.P296=), UNC13D(NM_199242.3):c.888G>C (p.P296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75840081C>G" "" "benign" "" "0000315197" "0" "50" "17" "73835919" "73835919" "subst" "8.13776E-6" "02326" "UNC13D_000022" "g.73835919C>T" "" "" "" "UNC13D(NM_199242.2):c.1055+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75839838C>T" "" "VUS" "" "0000315198" "0" "10" "17" "73840243" "73840243" "subst" "0" "02326" "UNC13D_000039" "g.73840243G>A" "" "" "" "UNC13D(NM_199242.2):c.117+59C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75844162G>A" "" "benign" "" "0000315199" "0" "90" "17" "73839908" "73839908" "subst" "0" "02326" "UNC13D_000038" "g.73839908G>A" "" "" "" "UNC13D(NM_199242.2):c.118-308C>T, UNC13D(NM_199242.3):c.118-308C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75843827G>A" "" "pathogenic" "" "0000315200" "0" "50" "17" "73832710" "73832710" "subst" "1.22034E-5" "02326" "UNC13D_000021" "g.73832710C>A" "" "" "" "UNC13D(NM_199242.2):c.1241G>T (p.R414L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75836629C>A" "" "VUS" "" "0000315201" "0" "10" "17" "73839366" "73839366" "subst" "0.243608" "02326" "UNC13D_000037" "g.73839366C>T" "" "" "" "UNC13D(NM_199242.2):c.154-19G>A, UNC13D(NM_199242.3):c.154-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75843285C>T" "" "benign" "" "0000315202" "0" "30" "17" "73831953" "73831953" "subst" "0.003838" "02326" "UNC13D_000019" "g.73831953G>A" "" "" "" "UNC13D(NM_199242.2):c.1579C>T (p.R527W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75835872G>A" "" "likely benign" "" "0000315203" "0" "10" "17" "73839326" "73839326" "subst" "0.0157721" "02326" "UNC13D_000035" "g.73839326C>T" "" "" "" "UNC13D(NM_199242.2):c.175G>A (p.A59T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75843245C>T" "" "benign" "" "0000315204" "0" "10" "17" "73830996" "73830996" "subst" "0.189523" "02326" "UNC13D_000017" "g.73830996C>T" "" "" "" "UNC13D(NM_199242.2):c.1992+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75834915C>T" "" "benign" "" "0000315205" "0" "50" "17" "73830485" "73830485" "subst" "0.000115465" "02326" "UNC13D_000041" "g.73830485G>A" "" "" "" "UNC13D(NM_199242.2):c.2219C>T (p.T740M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75834404G>A" "" "VUS" "" "0000315206" "0" "10" "17" "73830391" "73830391" "subst" "0.00741767" "02326" "UNC13D_000014" "g.73830391G>A" "" "" "" "UNC13D(NM_199242.2):c.2298+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75834310G>A" "" "benign" "" "0000315207" "0" "30" "17" "73830182" "73830182" "subst" "0.00149619" "02326" "UNC13D_000013" "g.73830182C>T" "" "" "" "UNC13D(NM_199242.2):c.2341G>A (p.V781I), UNC13D(NM_199242.3):c.2341G>A (p.V781I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75834101C>T" "" "likely benign" "" "0000315208" "0" "10" "17" "73827440" "73827440" "dup" "0" "02326" "UNC13D_000010" "g.73827440dup" "" "" "" "UNC13D(NM_199242.2):c.2448-8dupC, UNC13D(NM_199242.3):c.2448-8dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75831359dup" "" "benign" "" "0000315209" "0" "10" "17" "73827205" "73827205" "subst" "0.351264" "02326" "UNC13D_000009" "g.73827205T>C" "" "" "" "UNC13D(NM_199242.2):c.2599A>G (p.K867E), UNC13D(NM_199242.3):c.2599A>G (p.K867E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75831124T>C" "" "benign" "" "0000315210" "0" "50" "17" "73839155" "73839155" "subst" "0" "02326" "UNC13D_000034" "g.73839155C>T" "" "" "" "UNC13D(NM_199242.2):c.262-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75843074C>T" "" "VUS" "" "0000315211" "0" "90" "17" "73826673" "73826673" "subst" "1.85814E-5" "02326" "UNC13D_000007" "g.73826673G>A" "" "" "" "UNC13D(NM_199242.2):c.2695C>T (p.R899*), UNC13D(NM_199242.3):c.2695C>T (p.R899*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75830592G>A" "" "pathogenic" "" "0000315212" "0" "30" "17" "73839145" "73839145" "subst" "2.07262E-5" "02326" "UNC13D_000033" "g.73839145C>T" "" "" "" "UNC13D(NM_199242.2):c.271G>A (p.V91M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75843064C>T" "" "likely benign" "" "0000315213" "0" "30" "17" "73826491" "73826491" "subst" "0.0191705" "02326" "UNC13D_000006" "g.73826491G>A" "" "" "" "UNC13D(NM_199242.2):c.2782C>T (p.(Arg928Cys), p.R928C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75830410G>A" "" "likely benign" "" "0000315214" "0" "10" "17" "73826167" "73826167" "subst" "0.00439585" "02326" "UNC13D_000005" "g.73826167G>A" "" "" "" "UNC13D(NM_199242.2):c.2896C>T (p.R966W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75830086G>A" "" "benign" "" "0000315215" "0" "10" "17" "73826120" "73826120" "subst" "0.0516524" "02326" "UNC13D_000004" "g.73826120C>T" "" "" "" "UNC13D(NM_199242.2):c.2943G>A (p.E981=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75830039C>T" "" "benign" "" "0000315216" "0" "70" "17" "73824966" "73824966" "subst" "0" "02326" "UNC13D_000002" "g.73824966G>T" "" "" "" "UNC13D(NM_199242.2):c.3053C>A (p.A1018D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75828885G>T" "" "likely pathogenic" "" "0000315217" "0" "10" "17" "73824121" "73824121" "subst" "0.383012" "02326" "UNC13D_000001" "g.73824121T>C" "" "" "" "UNC13D(NM_199242.2):c.3198A>G (p.E1066=), UNC13D(NM_199242.3):c.3198A>G (p.E1066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75828040T>C" "" "benign" "" "0000315218" "0" "50" "17" "73838662" "73838662" "subst" "0" "02326" "UNC13D_000032" "g.73838662C>A" "" "" "" "UNC13D(NM_199242.2):c.421G>T (p.E141*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75842581C>A" "" "VUS" "" "0000315219" "0" "50" "17" "73838532" "73838532" "subst" "4.08393E-6" "02326" "UNC13D_000031" "g.73838532C>T" "" "" "" "UNC13D(NM_199242.2):c.551G>A (p.W184*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75842451C>T" "" "VUS" "" "0000315220" "0" "70" "17" "73836886" "73836886" "subst" "4.06151E-6" "02326" "UNC13D_000029" "g.73836886G>A" "" "" "" "UNC13D(NM_199242.2):c.640C>T (p.R214*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75840805G>A" "" "likely pathogenic" "" "0000315221" "0" "50" "17" "73840352" "73840352" "subst" "1.22637E-5" "02326" "UNC13D_000042" "g.73840352G>A" "" "" "" "UNC13D(NM_199242.2):c.67C>T (p.R23C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75844271G>A" "" "VUS" "" "0000315222" "0" "10" "17" "73836162" "73836162" "subst" "0.352405" "02326" "UNC13D_000027" "g.73836162C>G" "" "" "" "UNC13D(NM_199242.2):c.888G>C (p.P296=), UNC13D(NM_199242.3):c.888G>C (p.P296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75840081C>G" "" "benign" "" "0000315223" "0" "10" "17" "73836146" "73836146" "subst" "0.00263801" "02326" "UNC13D_000026" "g.73836146G>A" "" "" "" "UNC13D(NM_199242.2):c.904C>T (p.L302F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75840065G>A" "" "benign" "" "0000315224" "0" "50" "17" "73836121" "73836121" "subst" "4.08E-6" "02326" "UNC13D_000025" "g.73836121G>A" "" "" "" "UNC13D(NM_199242.2):c.929C>T (p.S310F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75840040G>A" "" "VUS" "" "0000315225" "0" "50" "17" "73836024" "73836024" "subst" "4.07242E-6" "02326" "UNC13D_000023" "g.73836024C>T" "" "" "" "UNC13D(NM_199242.2):c.952-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75839943C>T" "" "VUS" "" "0000319295" "0" "10" "17" "73839366" "73839366" "subst" "0.243608" "01943" "UNC13D_000037" "g.73839366C>T" "" "" "" "UNC13D(NM_199242.2):c.154-19G>A, UNC13D(NM_199242.3):c.154-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75843285C>T" "" "benign" "" "0000319296" "0" "50" "17" "73831566" "73831566" "subst" "0.000674781" "01943" "UNC13D_000018" "g.73831566G>A" "" "" "" "UNC13D(NM_199242.2):c.1772C>T (p.P591L), UNC13D(NM_199242.3):c.1772C>T (p.P591L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75835485G>A" "" "VUS" "" "0000319297" "0" "30" "17" "73830738" "73830738" "subst" "0.00204424" "01943" "UNC13D_000015" "g.73830738G>C" "" "" "" "UNC13D(NM_199242.2):c.2052C>G (p.L684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75834657G>C" "" "likely benign" "" "0000319298" "0" "30" "17" "73829114" "73829114" "subst" "0" "01943" "UNC13D_000011" "g.73829114G>A" "" "" "" "UNC13D(NM_199242.2):c.2380C>T (p.L794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75833033G>A" "" "likely benign" "" "0000319299" "0" "10" "17" "73827205" "73827205" "subst" "0.351264" "01943" "UNC13D_000009" "g.73827205T>C" "" "" "" "UNC13D(NM_199242.2):c.2599A>G (p.K867E), UNC13D(NM_199242.3):c.2599A>G (p.K867E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75831124T>C" "" "benign" "" "0000319300" "0" "90" "17" "73826673" "73826673" "subst" "1.85814E-5" "01943" "UNC13D_000007" "g.73826673G>A" "" "" "" "UNC13D(NM_199242.2):c.2695C>T (p.R899*), UNC13D(NM_199242.3):c.2695C>T (p.R899*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75830592G>A" "" "pathogenic" "" "0000319301" "0" "30" "17" "73824986" "73824986" "subst" "0.000523085" "01943" "UNC13D_000003" "g.73824986G>A" "" "" "" "UNC13D(NM_199242.2):c.3033C>T (p.A1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75828905G>A" "" "likely benign" "" "0000319302" "0" "10" "17" "73824121" "73824121" "subst" "0.383012" "01943" "UNC13D_000001" "g.73824121T>C" "" "" "" "UNC13D(NM_199242.2):c.3198A>G (p.E1066=), UNC13D(NM_199242.3):c.3198A>G (p.E1066=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75828040T>C" "" "benign" "" "0000319303" "0" "10" "17" "73836162" "73836162" "subst" "0.352405" "01943" "UNC13D_000027" "g.73836162C>G" "" "" "" "UNC13D(NM_199242.2):c.888G>C (p.P296=), UNC13D(NM_199242.3):c.888G>C (p.P296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75840081C>G" "" "benign" "" "0000325623" "0" "30" "17" "73826491" "73826491" "subst" "0.0191705" "01804" "UNC13D_000006" "g.73826491G>A" "" "" "" "UNC13D(NM_199242.2):c.2782C>T (p.(Arg928Cys), p.R928C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75830410G>A" "" "likely benign" "" "0000563087" "0" "50" "17" "73824159" "73824159" "subst" "0.000512653" "02325" "UNC13D_000045" "g.73824159T>C" "" "" "" "UNC13D(NM_199242.2):c.3160A>G (p.I1054V), UNC13D(NM_199242.3):c.3160A>G (p.I1054V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75828078T>C" "" "VUS" "" "0000563088" "0" "30" "17" "73824885" "73824885" "subst" "8.62904E-5" "01804" "UNC13D_000046" "g.73824885G>A" "" "" "" "UNC13D(NM_199242.2):c.3134C>T (p.(Thr1045Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75828804G>A" "" "likely benign" "" "0000563089" "0" "30" "17" "73825036" "73825036" "subst" "0.00098397" "01943" "UNC13D_000047" "g.73825036C>G" "" "" "" "UNC13D(NM_199242.2):c.2983G>C (p.A995P), UNC13D(NM_199242.3):c.2983G>C (p.A995P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75828955C>G" "" "likely benign" "" "0000563091" "0" "30" "17" "73826170" "73826170" "subst" "0.000475355" "02326" "UNC13D_000048" "g.73826170C>T" "" "" "" "UNC13D(NM_199242.2):c.2893G>A (p.A965T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75830089C>T" "" "likely benign" "" "0000563092" "0" "30" "17" "73826252" "73826252" "subst" "0.000421234" "02326" "UNC13D_000049" "g.73826252T>A" "" "" "" "UNC13D(NM_199242.2):c.2831-20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75830171T>A" "" "likely benign" "" "0000563093" "0" "30" "17" "73826436" "73826436" "subst" "0.000285326" "01943" "UNC13D_000050" "g.73826436C>T" "" "" "" "UNC13D(NM_199242.2):c.2830+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75830355C>T" "" "likely benign" "" "0000563094" "0" "50" "17" "73826445" "73826445" "subst" "0.000549398" "01943" "UNC13D_000051" "g.73826445T>C" "" "" "" "UNC13D(NM_199242.2):c.2828A>G (p.N943S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75830364T>C" "" "VUS" "" "0000563095" "0" "30" "17" "73826490" "73826490" "subst" "0.000168771" "01943" "UNC13D_000052" "g.73826490C>T" "" "" "" "UNC13D(NM_199242.2):c.2783G>A (p.R928H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75830409C>T" "" "likely benign" "" "0000563096" "0" "50" "17" "73826505" "73826505" "subst" "6.04388E-5" "01943" "UNC13D_000053" "g.73826505G>C" "" "" "" "UNC13D(NM_199242.2):c.2768C>G (p.S923C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75830424G>C" "" "VUS" "" "0000563097" "0" "90" "17" "73826673" "73826673" "subst" "1.85814E-5" "02327" "UNC13D_000007" "g.73826673G>A" "" "" "" "UNC13D(NM_199242.2):c.2695C>T (p.R899*), UNC13D(NM_199242.3):c.2695C>T (p.R899*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75830592G>A" "" "pathogenic" "" "0000563098" "0" "30" "17" "73827266" "73827266" "subst" "0.000691681" "02326" "UNC13D_000054" "g.73827266G>A" "" "" "" "UNC13D(NM_199242.2):c.2554-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75831185G>A" "" "likely benign" "" "0000563099" "0" "30" "17" "73827312" "73827312" "subst" "0.00031337" "02326" "UNC13D_000055" "g.73827312C>T" "" "" "" "UNC13D(NM_199242.2):c.2553+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75831231C>T" "" "likely benign" "" "0000563100" "0" "30" "17" "73827319" "73827319" "subst" "0.000895401" "01804" "UNC13D_000056" "g.73827319G>C" "" "" "" "UNC13D(NM_199242.2):c.2553+5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75831238G>C" "" "likely benign" "" "0000563101" "0" "30" "17" "73827319" "73827319" "subst" "0.000895401" "02326" "UNC13D_000056" "g.73827319G>C" "" "" "" "UNC13D(NM_199242.2):c.2553+5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75831238G>C" "" "likely benign" "" "0000563102" "0" "30" "17" "73827335" "73827335" "subst" "0.00097692" "01943" "UNC13D_000057" "g.73827335T>G" "" "" "" "UNC13D(NM_199242.2):c.2542A>C (p.I848L), UNC13D(NM_199242.3):c.2542A>C (p.I848L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75831254T>G" "" "likely benign" "" "0000563103" "0" "90" "17" "73827400" "73827403" "del" "0" "01943" "UNC13D_000058" "g.73827400_73827403del" "" "" "" "UNC13D(NM_199242.2):c.2477_2480delTCAC (p.L826Qfs*20), UNC13D(NM_199242.3):c.2477_2480delTCAC (p.L826Qfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75831319_75831322del" "" "pathogenic" "" "0000563104" "0" "90" "17" "73827400" "73827403" "del" "0" "02325" "UNC13D_000058" "g.73827400_73827403del" "" "" "" "UNC13D(NM_199242.2):c.2477_2480delTCAC (p.L826Qfs*20), UNC13D(NM_199242.3):c.2477_2480delTCAC (p.L826Qfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75831319_75831322del" "" "pathogenic" "" "0000563105" "0" "10" "17" "73827441" "73827442" "ins" "0" "02326" "UNC13D_000059" "g.73827441_73827442insG" "" "" "" "UNC13D(NM_199242.2):c.2448-13_2448-12insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75831360_75831361insG" "" "benign" "" "0000563106" "0" "30" "17" "73830182" "73830182" "subst" "0.00149619" "02325" "UNC13D_000013" "g.73830182C>T" "" "" "" "UNC13D(NM_199242.2):c.2341G>A (p.V781I), UNC13D(NM_199242.3):c.2341G>A (p.V781I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75834101C>T" "" "likely benign" "" "0000563107" "0" "30" "17" "73830188" "73830188" "subst" "0.00295562" "01943" "UNC13D_000060" "g.73830188C>T" "" "" "" "UNC13D(NM_199242.2):c.2335G>A (p.V779M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75834107C>T" "" "likely benign" "" "0000563108" "0" "30" "17" "73830188" "73830188" "subst" "0.00295562" "02326" "UNC13D_000060" "g.73830188C>T" "" "" "" "UNC13D(NM_199242.2):c.2335G>A (p.V779M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75834107C>T" "" "likely benign" "" "0000563109" "0" "30" "17" "73830544" "73830544" "subst" "0" "01943" "UNC13D_000061" "g.73830544T>C" "" "" "" "UNC13D(NM_199242.2):c.2160A>G (p.A720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75834463T>C" "" "likely benign" "" "0000563110" "0" "30" "17" "73830744" "73830744" "subst" "4.07422E-6" "01943" "UNC13D_000062" "g.73830744G>T" "" "" "" "UNC13D(NM_199242.2):c.2046C>A (p.R682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75834663G>T" "" "likely benign" "" "0000563111" "0" "50" "17" "73831510" "73831510" "subst" "2.05866E-5" "01943" "UNC13D_000063" "g.73831510G>A" "" "" "" "UNC13D(NM_199242.2):c.1828C>T (p.R610C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75835429G>A" "" "VUS" "" "0000563112" "0" "30" "17" "73832747" "73832747" "subst" "0.000463746" "01943" "UNC13D_000064" "g.73832747G>A" "" "" "" "UNC13D(NM_199242.2):c.1204C>T (p.L402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75836666G>A" "" "likely benign" "" "0000563113" "0" "30" "17" "73836153" "73836153" "subst" "4.08951E-5" "01943" "UNC13D_000065" "g.73836153G>T" "" "" "" "UNC13D(NM_199242.2):c.897C>A (p.T299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75840072G>T" "" "likely benign" "" "0000563114" "0" "50" "17" "73836412" "73836412" "subst" "0" "02326" "UNC13D_000066" "g.73836412T>C" "" "" "" "UNC13D(NM_199242.2):c.754-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75840331T>C" "" "VUS" "" "0000563115" "0" "90" "17" "73836587" "73836587" "subst" "4.46726E-5" "01943" "UNC13D_000067" "g.73836587C>A" "" "" "" "UNC13D(NM_199242.2):c.753+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75840506C>A" "" "pathogenic" "" "0000563116" "0" "50" "17" "73838523" "73838523" "subst" "0" "01943" "UNC13D_000068" "g.73838523G>T" "" "" "" "UNC13D(NM_199242.2):c.560C>A (p.T187N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75842442G>T" "" "VUS" "" "0000563117" "0" "50" "17" "73838676" "73838676" "subst" "4.11357E-6" "01943" "UNC13D_000069" "g.73838676C>A" "" "" "" "UNC13D(NM_199242.2):c.407G>T (p.C136F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75842595C>A" "" "VUS" "" "0000563118" "0" "10" "17" "73839137" "73839137" "subst" "0.0483748" "02325" "UNC13D_000070" "g.73839137G>A" "" "" "" "UNC13D(NM_199242.2):c.279C>T (p.P93=), UNC13D(NM_199242.3):c.279C>T (p.P93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75843056G>A" "" "benign" "" "0000563119" "0" "10" "17" "73839137" "73839137" "subst" "0.0483748" "02326" "UNC13D_000070" "g.73839137G>A" "" "" "" "UNC13D(NM_199242.2):c.279C>T (p.P93=), UNC13D(NM_199242.3):c.279C>T (p.P93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75843056G>A" "" "benign" "" "0000563120" "0" "30" "17" "73840320" "73840320" "subst" "0.00157866" "01943" "UNC13D_000071" "g.73840320C>T" "" "" "" "UNC13D(NM_199242.2):c.99G>A (p.P33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75844239C>T" "" "likely benign" "" "0000563121" "0" "30" "17" "73840395" "73840395" "subst" "0.00158452" "01943" "UNC13D_000072" "g.73840395C>T" "" "" "" "UNC13D(NM_199242.2):c.24G>A (p.P8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75844314C>T" "" "likely benign" "" "0000563122" "0" "50" "17" "73843958" "73843958" "subst" "3.22314E-5" "01943" "UNC13D_000073" "g.73843958C>T" "" "" "" "WBP2(NM_012478.4):c.451G>A (p.G151R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75847877C>T" "" "VUS" "" "0000616820" "0" "50" "17" "73824159" "73824159" "subst" "0.000512653" "01943" "UNC13D_000045" "g.73824159T>C" "" "" "" "UNC13D(NM_199242.2):c.3160A>G (p.I1054V), UNC13D(NM_199242.3):c.3160A>G (p.I1054V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75828078T>C" "" "VUS" "" "0000616821" "0" "30" "17" "73824877" "73824877" "subst" "0" "01943" "UNC13D_000074" "g.73824877C>T" "" "" "" "UNC13D(NM_199242.2):c.3142G>A (p.A1048T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75828796C>T" "" "likely benign" "" "0000616822" "0" "50" "17" "73831579" "73831579" "subst" "0.000175196" "02325" "UNC13D_000075" "g.73831579G>A" "" "" "" "UNC13D(NM_199242.3):c.1759C>T (p.R587C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75835498G>A" "" "VUS" "" "0000616823" "0" "30" "17" "73837042" "73837042" "subst" "0.000653759" "01943" "UNC13D_000043" "g.73837042T>C" "" "" "" "UNC13D(NM_199242.2):c.610A>G (p.M204V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75840961T>C" "" "likely benign" "" "0000623766" "0" "30" "17" "73825036" "73825036" "subst" "0.00098397" "02326" "UNC13D_000047" "g.73825036C>G" "" "" "" "UNC13D(NM_199242.2):c.2983G>C (p.A995P), UNC13D(NM_199242.3):c.2983G>C (p.A995P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75828955C>G" "" "likely benign" "" "0000623767" "0" "30" "17" "73827335" "73827335" "subst" "0.00097692" "02326" "UNC13D_000057" "g.73827335T>G" "" "" "" "UNC13D(NM_199242.2):c.2542A>C (p.I848L), UNC13D(NM_199242.3):c.2542A>C (p.I848L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75831254T>G" "" "likely benign" "" "0000649705" "1" "30" "17" "73826445" "73826445" "subst" "0.000549398" "03575" "UNC13D_000051" "g.73826445T>C" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs147748627}" "Germline" "" "rs147748627" "0" "" "" "g.75830364T>C" "" "likely benign" "" "0000649706" "1" "30" "17" "73826491" "73826491" "subst" "0.0191705" "03575" "UNC13D_000006" "g.73826491G>A" "74/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "74 heterozygous, no homozygous; {DB:CLININrs35037984}" "Germline" "" "rs35037984" "0" "" "" "g.75830410G>A" "" "likely benign" "" "0000649707" "1" "50" "17" "73827216" "73827216" "subst" "0.000292933" "03575" "UNC13D_000076" "g.73827216C>T" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs140184929}" "Germline" "" "rs140184929" "0" "" "" "g.75831135C>T" "" "VUS" "" "0000649708" "1" "50" "17" "73836086" "73836086" "subst" "0.0185616" "03575" "UNC13D_000024" "g.73836086A>C" "102/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 102 heterozygous; {DB:CLININrs140758914}" "Germline" "" "rs140758914" "0" "" "" "g.75840005A>C" "" "VUS" "" "0000658248" "0" "30" "17" "73826436" "73826436" "subst" "0.000285326" "02326" "UNC13D_000050" "g.73826436C>T" "" "" "" "UNC13D(NM_199242.2):c.2830+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75830355C>T" "" "likely benign" "" "0000658249" "0" "50" "17" "73830509" "73830509" "subst" "0" "02325" "UNC13D_000077" "g.73830509A>G" "" "" "" "UNC13D(NM_199242.3):c.2195T>C (p.L732P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75834428A>G" "" "VUS" "" "0000658250" "0" "50" "17" "73839134" "73839136" "dup" "0" "02325" "UNC13D_000078" "g.73839134_73839136dup" "" "" "" "UNC13D(NM_199242.3):c.283_285dupGAG (p.E95dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75843053_75843055dup" "" "VUS" "" "0000668144" "21" "70" "17" "73826509" "73826509" "subst" "8.65387E-5" "00006" "UNC13D_000079" "g.73826509C>T" "" "{PMID:Gernez 2019:31271789}" "" "" "" "Germline" "" "" "0" "" "" "g.75830428C>T" "" "likely pathogenic (recessive)" "" "0000669418" "3" "50" "17" "73836086" "73836086" "subst" "0.0185616" "03575" "UNC13D_000024" "g.73836086A>C" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 homozygous; {DB:CLININrs140758914}" "Germline" "" "rs140758914" "0" "" "" "g.75840005A>C" "" "VUS" "" "0000681024" "0" "30" "17" "73836181" "73836181" "subst" "6.59952E-5" "02326" "UNC13D_000080" "g.73836181G>A" "" "" "" "UNC13D(NM_199242.2):c.869C>T (p.S290L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692469" "0" "30" "17" "73825036" "73825036" "subst" "0.00098397" "02325" "UNC13D_000047" "g.73825036C>G" "" "" "" "UNC13D(NM_199242.2):c.2983G>C (p.A995P), UNC13D(NM_199242.3):c.2983G>C (p.A995P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692470" "0" "30" "17" "73827335" "73827335" "subst" "0.00097692" "02325" "UNC13D_000057" "g.73827335T>G" "" "" "" "UNC13D(NM_199242.2):c.2542A>C (p.I848L), UNC13D(NM_199242.3):c.2542A>C (p.I848L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692471" "0" "30" "17" "73832921" "73832921" "subst" "2.43831E-5" "01943" "UNC13D_000081" "g.73832921G>A" "" "" "" "UNC13D(NM_199242.2):c.1134C>T (p.I378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692472" "0" "30" "17" "73835961" "73835961" "subst" "3.65958E-5" "01943" "UNC13D_000082" "g.73835961G>A" "" "" "" "UNC13D(NM_199242.2):c.1014C>T (p.H338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726678" "0" "50" "17" "73824081" "73824081" "subst" "6.52888E-5" "01943" "UNC13D_000083" "g.73824081G>A" "" "" "" "UNC13D(NM_199242.2):c.3238C>T (p.Q1080*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726679" "0" "90" "17" "73831531" "73831531" "subst" "2.05469E-5" "01943" "UNC13D_000084" "g.73831531C>A" "" "" "" "UNC13D(NM_199242.2):c.1807G>T (p.E603*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726680" "0" "70" "17" "73839254" "73839254" "subst" "4.0838E-6" "02326" "UNC13D_000085" "g.73839254G>A" "" "" "" "UNC13D(NM_199242.2):c.247C>T (p.R83*), UNC13D(NM_199242.3):c.247C>T (p.R83*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000733986" "0" "70" "17" "73827216" "73827216" "subst" "0.000292933" "04011" "UNC13D_000076" "g.73827216C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734023" "0" "70" "17" "73832719" "73832719" "subst" "0.000557201" "04011" "UNC13D_000087" "g.73832719C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734081" "0" "70" "17" "73836101" "73836101" "subst" "4.08313E-6" "04011" "UNC13D_000088" "g.73836101C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734142" "0" "70" "17" "73832719" "73832719" "subst" "0.000557201" "04011" "UNC13D_000087" "g.73832719C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734323" "0" "70" "17" "73824885" "73824885" "subst" "8.62904E-5" "04011" "UNC13D_000046" "g.73824885G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734504" "0" "70" "17" "73827216" "73827216" "subst" "0.000292933" "04011" "UNC13D_000076" "g.73827216C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735037" "0" "70" "17" "73831848" "73831848" "subst" "1.21894E-5" "04011" "UNC13D_000090" "g.73831848C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735132" "0" "70" "17" "73827216" "73827216" "subst" "0.000292933" "04011" "UNC13D_000076" "g.73827216C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735203" "0" "70" "17" "73827216" "73827216" "subst" "0.000292933" "04011" "UNC13D_000076" "g.73827216C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735300" "0" "70" "17" "73827216" "73827216" "subst" "0.000292933" "04011" "UNC13D_000076" "g.73827216C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735305" "0" "70" "17" "73830462" "73830462" "subst" "0" "04011" "UNC13D_000089" "g.73830462C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735418" "0" "70" "17" "73832191" "73832191" "subst" "0" "04011" "UNC13D_000091" "g.73832191C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735419" "0" "70" "17" "73831848" "73831848" "subst" "1.21894E-5" "04011" "UNC13D_000090" "g.73831848C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735447" "0" "70" "17" "73840388" "73840388" "subst" "4.1113E-6" "04011" "UNC13D_000093" "g.73840388G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735450" "0" "70" "17" "73837050" "73837050" "subst" "5.68491E-5" "04011" "UNC13D_000092" "g.73837050T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000808258" "0" "30" "17" "73824159" "73824159" "subst" "0.000512653" "02326" "UNC13D_000045" "g.73824159T>C" "" "" "" "UNC13D(NM_199242.2):c.3160A>G (p.I1054V), UNC13D(NM_199242.3):c.3160A>G (p.I1054V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808259" "0" "50" "17" "73831566" "73831566" "subst" "0.000674781" "02325" "UNC13D_000018" "g.73831566G>A" "" "" "" "UNC13D(NM_199242.2):c.1772C>T (p.P591L), UNC13D(NM_199242.3):c.1772C>T (p.P591L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808260" "0" "70" "17" "73839155" "73839155" "subst" "0" "01943" "UNC13D_000034" "g.73839155C>T" "" "" "" "UNC13D(NM_199242.2):c.262-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855105" "0" "50" "17" "73830524" "73830524" "subst" "0.000456849" "01943" "UNC13D_000094" "g.73830524C>T" "" "" "" "UNC13D(NM_199242.2):c.2180G>A (p.R727Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855106" "0" "30" "17" "73832207" "73832207" "subst" "0.000738068" "02326" "UNC13D_000095" "g.73832207G>A" "" "" "" "UNC13D(NM_199242.2):c.1447-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865499" "0" "50" "17" "73826696" "73826696" "subst" "0" "01943" "UNC13D_000008" "g.73826696A>G" "" "" "" "UNC13D(NM_199242.2):c.2672T>C (p.L891P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894279" "0" "90" "17" "73827400" "73827403" "del" "0" "02326" "UNC13D_000058" "g.73827400_73827403del" "" "" "" "UNC13D(NM_199242.2):c.2477_2480delTCAC (p.L826Qfs*20), UNC13D(NM_199242.3):c.2477_2480delTCAC (p.L826Qfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894280" "0" "30" "17" "73831566" "73831566" "subst" "0.000674781" "02326" "UNC13D_000018" "g.73831566G>A" "" "" "" "UNC13D(NM_199242.2):c.1772C>T (p.P591L), UNC13D(NM_199242.3):c.1772C>T (p.P591L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894281" "0" "30" "17" "73831626" "73831626" "subst" "0" "02326" "UNC13D_000096" "g.73831626G>C" "" "" "" "UNC13D(NM_199242.2):c.1728-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894282" "0" "30" "17" "73832000" "73832000" "subst" "0" "02326" "UNC13D_000097" "g.73832000C>T" "" "" "" "UNC13D(NM_199242.2):c.1545-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894283" "0" "30" "17" "73836294" "73836294" "subst" "0.000664135" "02326" "UNC13D_000098" "g.73836294T>G" "" "" "" "UNC13D(NM_199242.2):c.858+12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894284" "0" "30" "17" "73836317" "73836317" "subst" "0.00187202" "02326" "UNC13D_000099" "g.73836317T>C" "" "" "" "UNC13D(NM_199242.2):c.847A>G (p.I283V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894285" "0" "30" "17" "73836897" "73836897" "subst" "0.000385834" "02325" "UNC13D_000030" "g.73836897A>C" "" "" "" "UNC13D(NM_199242.2):c.629T>G (p.V210G), UNC13D(NM_199242.3):c.629T>G (p.V210G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894286" "0" "90" "17" "73839155" "73839155" "subst" "0" "02327" "UNC13D_000034" "g.73839155C>T" "" "" "" "UNC13D(NM_199242.2):c.262-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914970" "0" "30" "17" "73829144" "73829144" "subst" "0" "02326" "UNC13D_000100" "g.73829144G>A" "" "" "" "UNC13D(NM_199242.2):c.2368-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914971" "0" "90" "17" "73832419" "73832419" "subst" "6.11471E-5" "02326" "UNC13D_000101" "g.73832419C>T" "" "" "" "UNC13D(NM_199242.2):c.1389+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914972" "0" "30" "17" "73836419" "73836419" "subst" "2.45489E-5" "02326" "UNC13D_000102" "g.73836419C>T" "" "" "" "UNC13D(NM_199242.2):c.754-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914973" "0" "30" "17" "73837042" "73837042" "subst" "0.000653759" "02326" "UNC13D_000043" "g.73837042T>C" "" "" "" "UNC13D(NM_199242.2):c.610A>G (p.M204V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914974" "0" "30" "17" "73838536" "73838536" "subst" "0.0013797" "02326" "UNC13D_000103" "g.73838536C>T" "" "" "" "UNC13D(NM_199242.2):c.547G>A (p.V183I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926637" "0" "10" "17" "73824067" "73824067" "subst" "0.00276288" "02326" "UNC13D_000104" "g.73824067A>G" "" "" "" "UNC13D(NM_199242.2):c.3252T>C (p.H1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926638" "0" "30" "17" "73825078" "73825078" "subst" "0.00060253" "02326" "UNC13D_000105" "g.73825078C>G" "" "" "" "UNC13D(NM_199242.2):c.2955-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926639" "0" "30" "17" "73830524" "73830524" "subst" "0.000456849" "02326" "UNC13D_000094" "g.73830524C>T" "" "" "" "UNC13D(NM_199242.2):c.2180G>A (p.R727Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926640" "0" "30" "17" "73833012" "73833012" "subst" "0.00485719" "02326" "UNC13D_000106" "g.73833012G>A" "" "" "" "UNC13D(NM_199242.2):c.1056-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930884" "0" "30" "17" "73832407" "73832407" "subst" "2.04103E-5" "02326" "UNC13D_000107" "g.73832407G>A" "" "" "" "UNC13D(NM_199242.2):c.1389+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930885" "0" "30" "17" "73836585" "73836585" "subst" "0.00242446" "02326" "UNC13D_000108" "g.73836585C>T" "" "" "" "UNC13D(NM_199242.2):c.753+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930886" "0" "90" "17" "73839908" "73839908" "subst" "0" "02325" "UNC13D_000038" "g.73839908G>A" "" "" "" "UNC13D(NM_199242.2):c.118-308C>T, UNC13D(NM_199242.3):c.118-308C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000933897" "11" "70" "17" "73826500" "73826500" "subst" "0" "04568" "UNC13D_000109" "g.73826500G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75830419G>A" "" "pathogenic" "" "0000933898" "21" "90" "17" "73827245" "73827245" "dup" "0" "04568" "UNC13D_000110" "g.73827245dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.75831164dup" "" "pathogenic" "ACMG" "0000951035" "0" "30" "17" "73829131" "73829131" "subst" "0.000196103" "02326" "UNC13D_000111" "g.73829131G>A" "" "" "" "UNC13D(NM_199242.2):c.2368-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951036" "0" "30" "17" "73839172" "73839172" "subst" "2.93518E-5" "02326" "UNC13D_000112" "g.73839172G>A" "" "" "" "UNC13D(NM_199242.2):c.262-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982805" "0" "90" "17" "73826673" "73826673" "subst" "1.85814E-5" "02329" "UNC13D_000007" "g.73826673G>A" "" "" "" "UNC13D(NM_199242.2):c.2695C>T (p.R899*), UNC13D(NM_199242.3):c.2695C>T (p.R899*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001022141" "0" "90" "17" "73839155" "73839155" "subst" "0" "04796" "UNC13D_000034" "g.73839155C>T" "" "" "" "" "multiple effects on RNA" "In vitro (cloned)" "" "" "0" "" "" "g.75843074C>T" "" "pathogenic" "" "0001042181" "0" "30" "17" "73836585" "73836585" "subst" "0.00242446" "02327" "UNC13D_000108" "g.73836585C>T" "" "" "" "UNC13D(NM_199242.2):c.753+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042182" "0" "90" "17" "73839254" "73839254" "subst" "4.0838E-6" "02325" "UNC13D_000085" "g.73839254G>A" "" "" "" "UNC13D(NM_199242.2):c.247C>T (p.R83*), UNC13D(NM_199242.3):c.247C>T (p.R83*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042183" "0" "70" "17" "73839322" "73839322" "subst" "0" "02325" "UNC13D_000113" "g.73839322A>G" "" "" "" "UNC13D(NM_199242.3):c.179T>C (p.L60P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001056190" "0" "50" "17" "73836308" "73836308" "subst" "6.10625E-5" "01804" "UNC13D_000114" "g.73836308G>A" "" "" "" "UNC13D(NM_199242.3):c.856C>T (p.(Arg286Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes UNC13D ## Count = 159 "{{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}}" "0000251612" "00022387" "10" "1992" "11" "1992" "11" "c.1992+11T>C" "r.(=)" "p.(=)" "" "0000251613" "00022387" "10" "1390" "-38" "1390" "-38" "c.1390-38T>C" "r.(=)" "p.(=)" "" "0000251614" "00022387" "10" "951" "13" "951" "13" "c.951+13T>G" "r.(=)" "p.(=)" "" "0000252302" "00022387" "30" "2367" "62" "2367" "62" "c.2367+62T>C" "r.(=)" "p.(=)" "" "0000253922" "00022387" "10" "154" "-8" "154" "-8" "c.154-8T>A" "r.(=)" "p.(=)" "" "0000255124" "00022387" "30" "629" "0" "629" "0" "c.629T>G" "r.(?)" "p.(Val210Gly)" "" "0000312942" "00022387" "10" "154" "-19" "154" "-19" "c.154-19G>A" "r.(=)" "p.(=)" "" "0000312943" "00022387" "10" "2448" "-8" "2448" "-8" "c.2448-8dup" "r.(=)" "p.(=)" "" "0000312944" "00022387" "10" "2599" "0" "2599" "0" "c.2599A>G" "r.(?)" "p.(Lys867Glu)" "" "0000312945" "00022387" "10" "3198" "0" "3198" "0" "c.3198A>G" "r.(?)" "p.(Glu1066=)" "" "0000312946" "00022387" "10" "888" "0" "888" "0" "c.888G>C" "r.(?)" "p.(Pro296=)" "" "0000315197" "00022387" "50" "1055" "1" "1055" "1" "c.1055+1G>A" "r.spl?" "p.?" "" "0000315198" "00022387" "10" "117" "59" "117" "59" "c.117+59C>T" "r.(=)" "p.(=)" "" "0000315199" "00022387" "90" "118" "-308" "118" "-308" "c.118-308C>T" "r.(=)" "p.(=)" "" "0000315200" "00022387" "50" "1241" "0" "1241" "0" "c.1241G>T" "r.(?)" "p.(Arg414Leu)" "" "0000315201" "00022387" "10" "154" "-19" "154" "-19" "c.154-19G>A" "r.(=)" "p.(=)" "" "0000315202" "00022387" "30" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Trp)" "" "0000315203" "00022387" "10" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Ala59Thr)" "" "0000315204" "00022387" "10" "1992" "5" "1992" "5" "c.1992+5G>A" "r.spl?" "p.?" "" "0000315205" "00022387" "50" "2219" "0" "2219" "0" "c.2219C>T" "r.(?)" "p.(Thr740Met)" "" "0000315206" "00022387" "10" "2298" "15" "2298" "15" "c.2298+15C>T" "r.(=)" "p.(=)" "" "0000315207" "00022387" "30" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Val781Ile)" "" "0000315208" "00022387" "10" "2448" "-8" "2448" "-8" "c.2448-8dup" "r.(=)" "p.(=)" "" "0000315209" "00022387" "10" "2599" "0" "2599" "0" "c.2599A>G" "r.(?)" "p.(Lys867Glu)" "" "0000315210" "00022387" "50" "262" "-1" "262" "-1" "c.262-1G>A" "r.spl?" "p.?" "" "0000315211" "00022387" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000315212" "00022387" "30" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Val91Met)" "" "0000315213" "00022387" "30" "2782" "0" "2782" "0" "c.2782C>T" "r.(?)" "p.(Arg928Cys)" "" "0000315214" "00022387" "10" "2896" "0" "2896" "0" "c.2896C>T" "r.(?)" "p.(Arg966Trp)" "" "0000315215" "00022387" "10" "2943" "0" "2943" "0" "c.2943G>A" "r.(?)" "p.(Glu981=)" "" "0000315216" "00022387" "70" "3053" "0" "3053" "0" "c.3053C>A" "r.(?)" "p.(Ala1018Asp)" "" "0000315217" "00022387" "10" "3198" "0" "3198" "0" "c.3198A>G" "r.(?)" "p.(Glu1066=)" "" "0000315218" "00022387" "50" "421" "0" "421" "0" "c.421G>T" "r.(?)" "p.(Glu141Ter)" "" "0000315219" "00022387" "50" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Trp184Ter)" "" "0000315220" "00022387" "70" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Ter)" "" "0000315221" "00022387" "50" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Cys)" "" "0000315222" "00022387" "10" "888" "0" "888" "0" "c.888G>C" "r.(?)" "p.(Pro296=)" "" "0000315223" "00022387" "10" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Leu302Phe)" "" "0000315224" "00022387" "50" "929" "0" "929" "0" "c.929C>T" "r.(?)" "p.(Ser310Phe)" "" "0000315225" "00022387" "50" "952" "-1" "952" "-1" "c.952-1G>A" "r.spl?" "p.?" "" "0000319295" "00022387" "10" "154" "-19" "154" "-19" "c.154-19G>A" "r.(=)" "p.(=)" "" "0000319296" "00022387" "50" "1772" "0" "1772" "0" "c.1772C>T" "r.(?)" "p.(Pro591Leu)" "" "0000319297" "00022387" "30" "2052" "0" "2052" "0" "c.2052C>G" "r.(?)" "p.(Leu684=)" "" "0000319298" "00022387" "30" "2380" "0" "2380" "0" "c.2380C>T" "r.(?)" "p.(Leu794=)" "" "0000319299" "00022387" "10" "2599" "0" "2599" "0" "c.2599A>G" "r.(?)" "p.(Lys867Glu)" "" "0000319300" "00022387" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000319301" "00022387" "30" "3033" "0" "3033" "0" "c.3033C>T" "r.(?)" "p.(Ala1011=)" "" "0000319302" "00022387" "10" "3198" "0" "3198" "0" "c.3198A>G" "r.(?)" "p.(Glu1066=)" "" "0000319303" "00022387" "10" "888" "0" "888" "0" "c.888G>C" "r.(?)" "p.(Pro296=)" "" "0000325623" "00022387" "30" "2782" "0" "2782" "0" "c.2782C>T" "r.(?)" "p.(Arg928Cys)" "" "0000563087" "00022387" "50" "3160" "0" "3160" "0" "c.3160A>G" "r.(?)" "p.(Ile1054Val)" "" "0000563088" "00022387" "30" "3134" "0" "3134" "0" "c.3134C>T" "r.(?)" "p.(Thr1045Met)" "" "0000563089" "00022387" "30" "2983" "0" "2983" "0" "c.2983G>C" "r.(?)" "p.(Ala995Pro)" "" "0000563091" "00022387" "30" "2893" "0" "2893" "0" "c.2893G>A" "r.(?)" "p.(Ala965Thr)" "" "0000563092" "00022387" "30" "2831" "-20" "2831" "-20" "c.2831-20A>T" "r.(=)" "p.(=)" "" "0000563093" "00022387" "30" "2830" "7" "2830" "7" "c.2830+7G>A" "r.(=)" "p.(=)" "" "0000563094" "00022387" "50" "2828" "0" "2828" "0" "c.2828A>G" "r.(?)" "p.(Asn943Ser)" "" "0000563095" "00022387" "30" "2783" "0" "2783" "0" "c.2783G>A" "r.(?)" "p.(Arg928His)" "" "0000563096" "00022387" "50" "2768" "0" "2768" "0" "c.2768C>G" "r.(?)" "p.(Ser923Cys)" "" "0000563097" "00022387" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000563098" "00022387" "30" "2554" "-16" "2554" "-16" "c.2554-16C>T" "r.(=)" "p.(=)" "" "0000563099" "00022387" "30" "2553" "12" "2553" "12" "c.2553+12G>A" "r.(=)" "p.(=)" "" "0000563100" "00022387" "30" "2553" "5" "2553" "5" "c.2553+5C>G" "r.spl?" "p.?" "" "0000563101" "00022387" "30" "2553" "5" "2553" "5" "c.2553+5C>G" "r.spl?" "p.?" "" "0000563102" "00022387" "30" "2542" "0" "2542" "0" "c.2542A>C" "r.(?)" "p.(Ile848Leu)" "" "0000563103" "00022387" "90" "2477" "0" "2480" "0" "c.2477_2480del" "r.(?)" "p.(Leu826GlnfsTer20)" "" "0000563104" "00022387" "90" "2477" "0" "2480" "0" "c.2477_2480del" "r.(?)" "p.(Leu826GlnfsTer20)" "" "0000563105" "00022387" "10" "2448" "-13" "2448" "-12" "c.2448-13_2448-12insC" "r.(=)" "p.(=)" "" "0000563106" "00022387" "30" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Val781Ile)" "" "0000563107" "00022387" "30" "2335" "0" "2335" "0" "c.2335G>A" "r.(?)" "p.(Val779Met)" "" "0000563108" "00022387" "30" "2335" "0" "2335" "0" "c.2335G>A" "r.(?)" "p.(Val779Met)" "" "0000563109" "00022387" "30" "2160" "0" "2160" "0" "c.2160A>G" "r.(?)" "p.(Ala720=)" "" "0000563110" "00022387" "30" "2046" "0" "2046" "0" "c.2046C>A" "r.(?)" "p.(Arg682=)" "" "0000563111" "00022387" "50" "1828" "0" "1828" "0" "c.1828C>T" "r.(?)" "p.(Arg610Cys)" "" "0000563112" "00022387" "30" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Leu402=)" "" "0000563113" "00022387" "30" "897" "0" "897" "0" "c.897C>A" "r.(?)" "p.(Thr299=)" "" "0000563114" "00022387" "50" "754" "-2" "754" "-2" "c.754-2A>G" "r.spl?" "p.?" "" "0000563115" "00022387" "90" "753" "1" "753" "1" "c.753+1G>T" "r.spl?" "p.?" "" "0000563116" "00022387" "50" "560" "0" "560" "0" "c.560C>A" "r.(?)" "p.(Thr187Asn)" "" "0000563117" "00022387" "50" "407" "0" "407" "0" "c.407G>T" "r.(?)" "p.(Cys136Phe)" "" "0000563118" "00022387" "10" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Pro93=)" "" "0000563119" "00022387" "10" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Pro93=)" "" "0000563120" "00022387" "30" "99" "0" "99" "0" "c.99G>A" "r.(?)" "p.(Pro33=)" "" "0000563121" "00022387" "30" "24" "0" "24" "0" "c.24G>A" "r.(?)" "p.(Pro8=)" "" "0000563122" "00022387" "50" "-3540" "0" "-3540" "0" "c.-3540G>A" "r.(?)" "p.(=)" "" "0000616820" "00022387" "50" "3160" "0" "3160" "0" "c.3160A>G" "r.(?)" "p.(Ile1054Val)" "" "0000616821" "00022387" "30" "3142" "0" "3142" "0" "c.3142G>A" "r.(?)" "p.(Ala1048Thr)" "" "0000616822" "00022387" "50" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Arg587Cys)" "" "0000616823" "00022387" "30" "610" "0" "610" "0" "c.610A>G" "r.(?)" "p.(Met204Val)" "" "0000623766" "00022387" "30" "2983" "0" "2983" "0" "c.2983G>C" "r.(?)" "p.(Ala995Pro)" "" "0000623767" "00022387" "30" "2542" "0" "2542" "0" "c.2542A>C" "r.(?)" "p.(Ile848Leu)" "" "0000649705" "00022387" "30" "2828" "0" "2828" "0" "c.2828A>G" "r.(?)" "p.(Asn943Ser)" "" "0000649706" "00022387" "30" "2782" "0" "2782" "0" "c.2782C>T" "r.(?)" "p.(Arg928Cys)" "" "0000649707" "00022387" "50" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Asp)" "" "0000649708" "00022387" "50" "951" "13" "951" "13" "c.951+13T>G" "r.(=)" "p.(=)" "" "0000658248" "00022387" "30" "2830" "7" "2830" "7" "c.2830+7G>A" "r.(=)" "p.(=)" "" "0000658249" "00022387" "50" "2195" "0" "2195" "0" "c.2195T>C" "r.(?)" "p.(Leu732Pro)" "" "0000658250" "00022387" "50" "283" "0" "285" "0" "c.283_285dup" "r.(?)" "p.(Glu95dup)" "" "0000668144" "00022387" "70" "2764" "0" "2764" "0" "c.2764G>A" "r.(?)" "p.(Ala922Thr)" "" "0000669418" "00022387" "50" "951" "13" "951" "13" "c.951+13T>G" "r.(=)" "p.(=)" "" "0000681024" "00022387" "30" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Ser290Leu)" "" "0000692469" "00022387" "30" "2983" "0" "2983" "0" "c.2983G>C" "r.(?)" "p.(Ala995Pro)" "" "0000692470" "00022387" "30" "2542" "0" "2542" "0" "c.2542A>C" "r.(?)" "p.(Ile848Leu)" "" "0000692471" "00022387" "30" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Ile378=)" "" "0000692472" "00022387" "30" "1014" "0" "1014" "0" "c.1014C>T" "r.(?)" "p.(His338=)" "" "0000726678" "00022387" "50" "3238" "0" "3238" "0" "c.3238C>T" "r.(?)" "p.(Gln1080*)" "" "0000726679" "00022387" "90" "1807" "0" "1807" "0" "c.1807G>T" "r.(?)" "p.(Glu603*)" "" "0000726680" "00022387" "70" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83*)" "" "0000733986" "00022387" "50" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Asp)" "" "0000734023" "00022387" "50" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Arg411Gln)" "" "0000734081" "00022387" "50" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Glu317Lys)" "" "0000734142" "00022387" "50" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Arg411Gln)" "" "0000734323" "00022387" "50" "3134" "0" "3134" "0" "c.3134C>T" "r.(?)" "p.(Thr1045Met)" "" "0000734504" "00022387" "50" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Asp)" "" "0000735037" "00022387" "50" "1607" "0" "1607" "0" "c.1607G>T" "r.(?)" "p.(Arg536Leu)" "" "0000735132" "00022387" "50" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Asp)" "" "0000735203" "00022387" "50" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Asp)" "" "0000735300" "00022387" "50" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Asp)" "" "0000735305" "00022387" "50" "2242" "0" "2242" "0" "c.2242G>T" "r.(?)" "p.(Ala748Ser)" "" "0000735418" "00022387" "50" "1447" "-1" "1447" "-1" "c.1447-1G>A" "r.spl?" "p.?" "" "0000735419" "00022387" "50" "1607" "0" "1607" "0" "c.1607G>T" "r.(?)" "p.(Arg536Leu)" "" "0000735447" "00022387" "50" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Cys)" "" "0000735450" "00022387" "50" "602" "0" "602" "0" "c.602A>G" "r.(?)" "p.(His201Arg)" "" "0000808258" "00022387" "30" "3160" "0" "3160" "0" "c.3160A>G" "r.(?)" "p.(Ile1054Val)" "" "0000808259" "00022387" "50" "1772" "0" "1772" "0" "c.1772C>T" "r.(?)" "p.(Pro591Leu)" "" "0000808260" "00022387" "70" "262" "-1" "262" "-1" "c.262-1G>A" "r.spl?" "p.?" "" "0000855105" "00022387" "50" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Arg727Gln)" "" "0000855106" "00022387" "30" "1447" "-17" "1447" "-17" "c.1447-17C>T" "r.(=)" "p.(=)" "" "0000865499" "00022387" "50" "2672" "0" "2672" "0" "c.2672T>C" "r.(?)" "p.(Leu891Pro)" "" "0000894279" "00022387" "90" "2477" "0" "2480" "0" "c.2477_2480del" "r.(?)" "p.(Leu826GlnfsTer20)" "" "0000894280" "00022387" "30" "1772" "0" "1772" "0" "c.1772C>T" "r.(?)" "p.(Pro591Leu)" "" "0000894281" "00022387" "30" "1728" "-16" "1728" "-16" "c.1728-16C>G" "r.(=)" "p.(=)" "" "0000894282" "00022387" "30" "1545" "-13" "1545" "-13" "c.1545-13G>A" "r.(=)" "p.(=)" "" "0000894283" "00022387" "30" "858" "12" "858" "12" "c.858+12A>C" "r.(=)" "p.(=)" "" "0000894284" "00022387" "30" "847" "0" "847" "0" "c.847A>G" "r.(?)" "p.(Ile283Val)" "" "0000894285" "00022387" "30" "629" "0" "629" "0" "c.629T>G" "r.(?)" "p.(Val210Gly)" "" "0000894286" "00022387" "90" "262" "-1" "262" "-1" "c.262-1G>A" "r.spl?" "p.?" "" "0000914970" "00022387" "30" "2368" "-18" "2368" "-18" "c.2368-18C>T" "r.(=)" "p.(=)" "" "0000914971" "00022387" "90" "1389" "1" "1389" "1" "c.1389+1G>A" "r.spl?" "p.?" "" "0000914972" "00022387" "30" "754" "-9" "754" "-9" "c.754-9G>A" "r.(=)" "p.(=)" "" "0000914973" "00022387" "30" "610" "0" "610" "0" "c.610A>G" "r.(?)" "p.(Met204Val)" "" "0000914974" "00022387" "30" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Val183Ile)" "" "0000926637" "00022387" "10" "3252" "0" "3252" "0" "c.3252T>C" "r.(?)" "p.(His1084=)" "" "0000926638" "00022387" "30" "2955" "-14" "2955" "-14" "c.2955-14G>C" "r.(=)" "p.(=)" "" "0000926639" "00022387" "30" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Arg727Gln)" "" "0000926640" "00022387" "30" "1056" "-13" "1056" "-13" "c.1056-13C>T" "r.(=)" "p.(=)" "" "0000930884" "00022387" "30" "1389" "13" "1389" "13" "c.1389+13C>T" "r.(=)" "p.(=)" "" "0000930885" "00022387" "30" "753" "3" "753" "3" "c.753+3G>A" "r.spl?" "p.?" "" "0000930886" "00022387" "90" "118" "-308" "118" "-308" "c.118-308C>T" "r.(=)" "p.(=)" "" "0000933897" "00022387" "70" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Gln925*)" "" "0000933898" "00022387" "90" "2560" "0" "2560" "0" "c.2560dup" "r.(?)" "p.(Glu854Glyfs*7)" "" "0000951035" "00022387" "30" "2368" "-5" "2368" "-5" "c.2368-5C>T" "r.spl?" "p.?" "" "0000951036" "00022387" "30" "262" "-18" "262" "-18" "c.262-18C>T" "r.(=)" "p.(=)" "" "0000982805" "00022387" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0001022141" "00022387" "90" "262" "-1" "262" "-1" "c.262-1G>A" "r.[261_262ins261+1_262-1,262del,262_321del]" "p.[Ala88GlyfsTer47,Ala88ProfsTer26,Ala88_Glu107del]" "3i" "0001042181" "00022387" "30" "753" "3" "753" "3" "c.753+3G>A" "r.spl?" "p.?" "" "0001042182" "00022387" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83*)" "" "0001042183" "00022387" "70" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Leu60Pro)" "" "0001056190" "00022387" "50" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000293016" "0000649705" "0000293017" "0000649706" "0000293018" "0000649707" "0000293019" "0000649708" "0000304648" "0000668144" "0000305730" "0000669418" "0000335528" "0000733986" "0000335538" "0000734023" "0000335554" "0000734081" "0000335576" "0000734142" "0000335634" "0000734323" "0000335727" "0000734504" "0000336080" "0000735037" "0000336103" "0000735132" "0000336132" "0000735203" "0000336172" "0000735300" "0000336173" "0000735305" "0000336242" "0000735418" "0000336242" "0000735419" "0000336248" "0000735447" "0000336249" "0000735450" "0000438261" "0000933897" "0000438261" "0000933898" "0000462614" "0001022141"