### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SNAPC4) # 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}}" "SNAPC4" "small nuclear RNA activating complex, polypeptide 4, 190kDa" "9" "q34.3" "unknown" "NC_000009.11" "UD_132610940902" "" "https://www.LOVD.nl/SNAPC4" "" "1" "11137" "6621" "602777" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SNAPC4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-04-03 19:32:14" "00006" "2026-05-06 09:38:19" ## 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}}" "00019502" "SNAPC4" "small nuclear RNA activating complex, polypeptide 4, 190kDa" "001" "NM_003086.2" "" "NP_003077.2" "" "" "" "-9" "4641" "4410" "139292889" "139270029" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07164" "NEDRSO" "neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction" "AR" "620515" "" "" "" "00006" "2025-04-21 09:18:56" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SNAPC4" "05611" "SNAPC4" "07164" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00465221" "" "" "" "1" "" "01709" "" "" "F" "no" "Brazil" "" "0" "" "" "" "" "00465229" "" "" "" "1" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 1 affected, unaffed heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "Europe" "Fam1PatII2" "00465230" "" "" "" "1" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 1 affected, unaffed heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam2PatII1" "00465231" "" "" "" "2" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 2 affected brothers, unaffed heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam3PatII1" "00465232" "" "" "00465231" "1" "" "00006" "{PMID:Frost 2023:36965478}" "brother" "M" "" "" "" "0" "" "" "" "Fam3PatII2" "00465233" "" "" "" "1" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 1 affected, unaffed heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam4PatII1" "00465234" "" "" "" "1" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 1 affected, unaffed heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam5PatII1" "00465235" "" "" "" "2" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 2 affected sisters, unaffed heterozygous carrier parents" "F" "yes" "Morocco" "" "0" "" "" "" "Fam6PatII1" "00465236" "" "" "00465235" "1" "" "00006" "{PMID:Frost 2023:36965478}" "sister" "F" "yes" "Morocco" "" "0" "" "" "" "Fam6PatII2" "00465237" "" "" "" "1" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 1 affected, unaffed heterozygous carrier parents" "M" "yes" "Morocco" "" "0" "" "" "" "Fam7PatII1" "00465238" "" "" "" "1" "" "00006" "{PMID:Frost 2023:36965478}" "2-generation family, 1 affected, unaffed heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam8PatII1" "00478341" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00478342" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00478343" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00478344" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00478345" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00478346" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00478347" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00478348" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00478349" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00478350" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00478351" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" "00478352" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00465221" "00325" "00465229" "05611" "00465230" "05611" "00465231" "05611" "00465232" "05611" "00465233" "05611" "00465234" "05611" "00465235" "05611" "00465236" "05611" "00465237" "05611" "00465238" "05611" "00478341" "00198" "00478342" "00198" "00478343" "00198" "00478344" "00198" "00478345" "00198" "00478346" "00198" "00478347" "00198" "00478348" "00198" "00478349" "00198" "00478350" "00198" "00478351" "00198" "00478352" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00325, 05611, 07164 ## Count = 22 "{{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}}" "0000350764" "05611" "00465229" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 2,490 g (4th centile), length 45.7 cm (3rd centile); abnormal body weight (95th centile); short stature (12th centile); 9m-microcephaly (OFC -2.17 SD, 1st centile); developmental/motor regression (onset 15m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain mild cerebral atrophy" "" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "" "0000350765" "05611" "00465230" "00006" "Familial, autosomal recessive" "" "birth emergency Caesarean section, weight 3,345 g (60th centile), length 49.5 cm (58th centile); abnormal body weight (<1st centile); short stature (<1st centile); no microcephaly; developmental/motor regression (onset 15m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; drooling, non-verbal; non-ambulatory; increased deep tendon reflexes; MRI brain severe atrophy of cerebellum, striatum" "" "" "" "" "" "" "" "" "NEDRSO" "Leigh’s disease" "" "0000350766" "05611" "00465231" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 3,288 g (45th centile); normal weight; short stature (2nd centile); 13y-microcephaly (OFC -2.12 SD, 2nd centile); developmental/motor regression (onset 30m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes" "" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "" "0000350767" "05611" "00465232" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 3,773 g (80th centile), length 53.3 cm (96th centile); normal weight; short stature (<1st centile); 3y-microcephaly (OFC -2.36 SD, 1st centile); developmental/motor regression (onset 36m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain normal" "" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "" "0000350768" "05611" "00465233" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 2,138 g (1st centile), length 45.5 cm (1st centile); abnormal body weight (<1st centile); short stature (<1st centile); 8.7y-microcephaly (OFC -3.4 SD, <1st centile); spasticity; no spastic quadriparesis; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain normal" "" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "" "0000350769" "05611" "00465234" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 3,190 g (46th centile), length 51 cm (84th centile); abnormal body weight (1st centile); short stature (<1st centile); 7y-microcephaly (OFC -4.12 SD, <1st centile); developmental/motor regression (onset 6m); spasticity; no spastic quadriparesis; dystonia; drooling, dysarthria; non-ambulatory; increased deep tendon reflexes; MRI brain severe atrophy of cerebellum, striatum, cerebrum" "" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "" "0000350770" "05611" "00465235" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 2,980 g (11th centile), length 48 cm (10th centile); abnormal body weight (<1st centile); short stature (<1st centile); 12.5y-microcephaly (OFC -5 SD, <1st centile); developmental/motor regression (onset 16m); spasticity; spastic quadriparesis; no dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain severe cerebellar atrophy, mild cerebral atrophy" "" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "" "0000350771" "05611" "00465236" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 2,790 g (7th centile), length 48 cm (16th centile); abnormal body weight (<1st centile); short stature (<1st centile); 11y-microcephaly (OFC -7 SD, <1st centile); developmental/motor regression (onset 18m); spasticity; spastic quadriparesis; no dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain severe cerebellar atrophy" "" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "" "0000350772" "05611" "00465237" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 2,640 g (1st centile), length 47 cm (2nd centile); normal weight; short stature (<1st centile); 6.5y-microcephaly (OFC -5.5 SD, <1st centile); spasticity; no spastic quadriparesis; no dystonia; no oromotor dysfunction; gait abnormalities; increased deep tendon reflexes; MRI brain severe cerebellar atrophy" "" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "" "0000350773" "05611" "00465238" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth spontaneous vaginal delivery, weight 3,400 g (54th centile); abnormal body weight (75th-90th centile); short stature (10th centile); -; developmental/motor regression (onset 24-36m); spasticity; no spastic quadriparesis; dysarthria; gait abnormalities; normal deep tendon reflexes" "" "" "" "" "" "" "" "" "NEDRSO" "neurodevelopmental disorder" "" "0000362858" "00198" "00478341" "03565" "Familial, autosomal recessive" "" "Spastic paraparesis; distal muscle atrophy" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "" "" "0000362859" "00198" "00478342" "03565" "Familial, autosomal recessive" "" "Severe DD/ID" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "" "" "0000362860" "00198" "00478343" "03565" "Familial, autosomal recessive" "" "Motor and speech delay" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "" "" "0000362861" "00198" "00478344" "03565" "Familial, autosomal recessive" "" "Severe DD/ID" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "" "" "0000362862" "00198" "00478345" "03565" "Familial, autosomal recessive" "" "Developmental delay, seizures" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "" "" "0000362863" "00198" "00478346" "03565" "Familial, autosomal recessive" "" "Developmental delay" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "" "" "0000362864" "00198" "00478347" "03565" "Familial, autosomal recessive" "" "Motor and speech delay" "" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "" "0000362865" "00198" "00478348" "03565" "Familial, autosomal recessive" "" "DD, spastic paraparesis" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "" "" "0000362866" "00198" "00478349" "03565" "Familial, autosomal recessive" "" "Motor and speech delay" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "" "" "0000362867" "00198" "00478350" "03565" "Familial, autosomal recessive" "" "Severe DD/ID" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "" "" "0000362868" "00198" "00478351" "03565" "Familial, autosomal recessive" "" "Developmental delay" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "" "" "0000362869" "00198" "00478352" "03565" "Familial, autosomal recessive" "" "Developmental delay" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000466871" "00465221" "1" "01709" "01709" "2025-04-15 15:46:28" "" "" "SEQ-NG" "DNA" "blood" "" "0000466879" "00465229" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000466880" "00465230" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000466881" "00465231" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "SEQ-NG" "DNA" "" "" "0000466882" "00465232" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "SEQ-NG" "DNA" "" "" "0000466883" "00465233" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000466884" "00465234" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000466885" "00465235" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000466886" "00465236" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "SEQ-NG" "DNA" "" "" "0000466887" "00465237" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "SEQ-NG" "DNA" "" "" "0000466888" "00465238" "1" "00006" "00006" "2025-04-24 13:56:53" "" "" "SEQ-NG" "DNA" "" "" "0000479988" "00478341" "1" "03565" "03565" "2026-05-04 20:40:59" "" "" "SEQ-NG" "DNA" "" "" "0000479989" "00478342" "1" "03565" "03565" "2026-05-04 20:48:51" "" "" "SEQ-NG" "DNA" "" "" "0000479990" "00478343" "1" "03565" "03565" "2026-05-04 20:50:47" "" "" "SEQ-NG" "DNA" "" "" "0000479991" "00478344" "1" "03565" "03565" "2026-05-04 20:56:13" "" "" "SEQ-NG" "DNA" "" "" "0000479992" "00478345" "1" "03565" "03565" "2026-05-04 20:57:53" "" "" "SEQ-NG" "DNA" "" "" "0000479993" "00478346" "1" "03565" "03565" "2026-05-04 21:00:15" "" "" "SEQ-NG" "DNA" "" "" "0000479994" "00478347" "1" "03565" "03565" "2026-05-04 21:02:00" "" "" "SEQ-NG" "DNA" "" "" "0000479995" "00478348" "1" "03565" "03565" "2026-05-04 21:03:45" "" "" "SEQ-NG" "DNA" "" "" "0000479996" "00478349" "1" "03565" "03565" "2026-05-04 21:05:18" "" "" "SEQ-NG" "DNA" "" "" "0000479997" "00478350" "1" "03565" "03565" "2026-05-04 21:06:50" "" "" "SEQ-NG" "DNA" "" "" "0000479998" "00478351" "1" "03565" "03565" "2026-05-04 21:08:26" "" "" "SEQ-NG" "DNA" "" "" "0000479999" "00478352" "1" "03565" "03565" "2026-05-04 21:16:44" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 89 "{{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}}" "0000266482" "0" "50" "9" "139265024" "139265026" "del" "0" "02325" "CARD9_000005" "g.139265024_139265026del" "" "" "" "CARD9(NM_052813.5):c.757_759delGAG (p.E253del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136370572_136370574del" "" "VUS" "" "0000269747" "0" "10" "9" "139266405" "139266405" "subst" "0.407381" "02326" "CARD9_000013" "g.139266405G>A" "" "" "" "CARD9(NM_052813.4):c.126C>T (p.P42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136371953G>A" "" "benign" "" "0000269748" "0" "30" "9" "139266396" "139266396" "subst" "0" "02326" "CARD9_000012" "g.139266396C>T" "" "" "" "CARD9(NM_052813.4):c.135G>A (p.E45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136371944C>T" "" "likely benign" "" "0000269749" "0" "10" "9" "139265870" "139265870" "subst" "0.0395356" "02326" "CARD9_000011" "g.139265870G>A" "" "" "" "CARD9(NM_052813.4):c.228C>T (p.Y76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136371418G>A" "" "benign" "" "0000269750" "0" "30" "9" "139265801" "139265801" "subst" "0.0327094" "02326" "CARD9_000010" "g.139265801C>T" "" "" "" "CARD9(NM_052813.4):c.297G>A (p.P99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136371349C>T" "" "likely benign" "" "0000269751" "0" "10" "9" "139266496" "139266496" "subst" "0.406628" "02326" "CARD9_000014" "g.139266496C>T" "" "" "" "CARD9(NM_052814.4):c.35G>A (p.S12N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136372044C>T" "" "benign" "" "0000269752" "0" "10" "9" "139265088" "139265088" "subst" "0.0383431" "02326" "CARD9_000006" "g.139265088C>T" "" "" "" "CARD9(NM_052813.4):c.693G>A (p.T231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136370636C>T" "" "benign" "" "0000272618" "0" "30" "9" "139266519" "139266519" "subst" "0.000539992" "01943" "CARD9_000015" "g.139266519G>A" "" "" "" "CARD9(NM_052813.4):c.12C>T (p.Y4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136372067G>A" "" "likely benign" "" "0000272620" "0" "50" "9" "139265430" "139265430" "subst" "0" "01943" "CARD9_000009" "g.139265430G>A" "" "" "" "CARD9(NM_052813.4):c.490C>T (p.L164F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136370978G>A" "" "VUS" "" "0000272621" "0" "50" "9" "139265407" "139265407" "subst" "0.000497196" "01943" "CARD9_000008" "g.139265407G>A" "" "" "" "CARD9(NM_052813.4):c.513C>T (p.G171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136370955G>A" "" "VUS" "" "0000272622" "0" "50" "9" "139265144" "139265144" "subst" "8.19028E-6" "01943" "CARD9_000007" "g.139265144G>A" "" "" "" "CARD9(NM_052813.4):c.637C>T (p.L213F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136370692G>A" "" "VUS" "" "0000272625" "0" "30" "9" "139266522" "139266522" "subst" "0" "01943" "CARD9_000016" "g.139266522G>T" "" "" "" "CARD9(NM_052813.4):c.9C>A (p.D3E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136372070G>T" "" "likely benign" "" "0000537157" "0" "50" "9" "139265334" "139265334" "subst" "4.15977E-5" "01943" "CARD9_000022" "g.139265334T>C" "" "" "" "CARD9(NM_052813.4):c.586A>G (p.K196E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136370882T>C" "" "VUS" "" "0000537158" "0" "30" "9" "139265810" "139265810" "subst" "0.00112198" "02326" "CARD9_000023" "g.139265810G>T" "" "" "" "CARD9(NM_052813.4):c.288C>A (p.G96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136371358G>T" "" "likely benign" "" "0000537159" "0" "30" "9" "139266519" "139266519" "subst" "0.000539992" "02326" "CARD9_000015" "g.139266519G>A" "" "" "" "CARD9(NM_052813.4):c.12C>T (p.Y4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136372067G>A" "" "likely benign" "" "0000537160" "0" "30" "9" "139272339" "139272339" "subst" "0.000632444" "01943" "CARD9_000024" "g.139272339G>A" "" "" "" "SNAPC4(NM_003086.3):c.3940C>T (p.L1314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136377887G>A" "" "likely benign" "" "0000537161" "0" "50" "9" "139273572" "139273572" "subst" "6.01815E-6" "01943" "SNAPC4_000001" "g.139273572G>A" "" "" "" "SNAPC4(NM_003086.3):c.2707C>T (p.Q903*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136379120G>A" "" "VUS" "" "0000537162" "0" "30" "9" "139276718" "139276718" "subst" "3.26637E-5" "01943" "SNAPC4_000002" "g.139276718C>T" "" "" "" "SNAPC4(NM_003086.3):c.2054G>A (p.R685Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136382266C>T" "" "likely benign" "" "0000537163" "0" "30" "9" "139277881" "139277881" "subst" "0.000421872" "01943" "SNAPC4_000003" "g.139277881G>A" "" "" "" "SNAPC4(NM_003086.3):c.1740C>T (p.S580=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136383429G>A" "" "likely benign" "" "0000537164" "0" "30" "9" "139298645" "139298645" "subst" "1.66864E-5" "01943" "SDCCAG3_000003" "g.139298645G>A" "" "" "" "ENTR1(NM_001039707.2):c.1070C>T (p.A357V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136404193G>A" "" "likely benign" "" "0000611989" "0" "50" "9" "139265098" "139265098" "subst" "2.45032E-5" "01943" "CARD9_000026" "g.139265098C>T" "" "" "" "CARD9(NM_052813.4):c.683G>A (p.R228H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136370646C>T" "" "VUS" "" "0000656288" "0" "30" "9" "139265514" "139265514" "subst" "0.000430067" "02326" "CARD9_000028" "g.139265514G>A" "" "" "" "CARD9(NM_052813.4):c.406C>T (p.L136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136371062G>A" "" "likely benign" "" "0000678590" "0" "30" "9" "139265810" "139265810" "subst" "0.00112198" "01943" "CARD9_000023" "g.139265810G>T" "" "" "" "CARD9(NM_052813.4):c.288C>A (p.G96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690461" "0" "30" "9" "139265370" "139265370" "subst" "9.48501E-5" "01943" "CARD9_000029" "g.139265370C>T" "" "" "" "CARD9(NM_052813.4):c.550G>A (p.D184N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722385" "0" "10" "9" "139265407" "139265407" "subst" "0.000497196" "02326" "CARD9_000008" "g.139265407G>A" "" "" "" "CARD9(NM_052813.4):c.513C>T (p.G171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803979" "0" "50" "9" "139265142" "139265142" "subst" "0" "01943" "CARD9_000031" "g.139265142G>C" "" "" "" "CARD9(NM_052813.4):c.639C>G (p.L213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803980" "0" "50" "9" "139265143" "139265143" "subst" "0" "01943" "CARD9_000032" "g.139265143A>C" "" "" "" "CARD9(NM_052813.4):c.638T>G (p.L213R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861563" "0" "30" "9" "139265405" "139265405" "subst" "0.000237637" "01943" "CARD9_000036" "g.139265405C>T" "" "" "" "CARD9(NM_052813.4):c.515G>A (p.S172N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861564" "0" "30" "9" "139265830" "139265830" "subst" "0" "01943" "CARD9_000037" "g.139265830G>A" "" "" "" "CARD9(NM_052813.4):c.268C>T (p.L90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861565" "0" "30" "9" "139266507" "139266507" "subst" "0.000350995" "02326" "CARD9_000038" "g.139266507G>A" "" "" "" "CARD9(NM_052813.4):c.24C>T (p.D8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888728" "0" "30" "9" "139265590" "139265590" "subst" "1.64125E-5" "02326" "CARD9_000040" "g.139265590G>A" "" "" "" "CARD9(NM_052813.4):c.330C>T (p.S110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913122" "0" "30" "9" "139265409" "139265409" "subst" "0.000217611" "02326" "CARD9_000042" "g.139265409C>T" "" "" "" "CARD9(NM_052813.4):c.511G>A (p.G171S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929568" "0" "50" "9" "139265027" "139265027" "subst" "0" "02326" "CARD9_000046" "g.139265027G>A" "" "" "" "CARD9(NM_052813.4):c.754C>T (p.Q252*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965291" "0" "30" "9" "139278016" "139278021" "dup" "0" "02329" "SNAPC4_000004" "g.139278016_139278021dup" "" "" "" "SNAPC4(NM_003086.4):c.1621_1626dupAGCAGC (p.S541_S542dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978538" "0" "70" "9" "139275263" "139275263" "subst" "8.16353E-6" "02329" "SNAPC4_000023" "g.139275263G>A" "" "" "" "SNAPC4(NM_003086.4):c.2428C>T (p.R810*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978539" "0" "30" "9" "139286965" "139286966" "del" "2.43784E-5" "01804" "SNAPC4_000005" "g.139286965_139286966del" "" "" "" "SNAPC4(NM_003086.3):c.810+8_810+9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978540" "0" "70" "9" "139287120" "139287120" "subst" "0" "02329" "SNAPC4_000015" "g.139287120C>A" "" "" "" "SNAPC4(NM_003086.4):c.737+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997654" "0" "30" "9" "139272495" "139272495" "subst" "8.64388E-5" "01804" "CARD9_000047" "g.139272495G>C" "" "" "" "SNAPC4(NM_003086.2):c.3784C>G (p.(Pro1262Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997655" "0" "50" "9" "139299638" "139299638" "subst" "0.000146213" "01804" "SDCCAG3_000005" "g.139299638G>A" "" "" "" "SDCCAG3(NM_001039707.1):c.910C>T (p.(Arg304Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025638" "0" "50" "9" "139265794" "139265794" "subst" "0" "02325" "CARD9_000048" "g.139265794C>T" "" "" "" "CARD9(NM_052813.5):c.304G>A (p.V102I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030857" "0" "70" "9" "139282213" "139282213" "subst" "0" "01709" "SNAPC4_000007" "g.139282213C>T" "" "" "" "" "" "Germline/De novo (untested)" "yes" "rs1439264804" "0" "" "" "g.136387761C>T" "" "likely pathogenic (recessive)" "ACMG" "0001030858" "0" "50" "9" "139282018" "139282018" "subst" "0" "01709" "SNAPC4_000006" "g.139282018G>A" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.136387566G>A" "" "VUS" "ACMG" "0001030894" "11" "90" "9" "139278469" "139278469" "subst" "8.14365E-6" "00006" "SNAPC4_000026" "g.139278469A>G" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136384017A>G" "" "pathogenic (recessive)" "" "0001030895" "11" "90" "9" "139288738" "139288738" "subst" "0" "00006" "SNAPC4_000014" "g.139288738C>T" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136394286C>T" "" "pathogenic (recessive)" "" "0001030896" "21" "90" "9" "139281941" "139281941" "subst" "0" "00006" "SNAPC4_000028" "g.139281941C>T" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136387489C>T" "" "pathogenic (recessive)" "" "0001030897" "21" "90" "9" "139281941" "139281941" "subst" "0" "00006" "SNAPC4_000028" "g.139281941C>T" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136387489C>T" "" "pathogenic (recessive)" "" "0001030898" "11" "90" "9" "139288780" "139288780" "subst" "0" "00006" "SNAPC4_000014" "g.139288780T>C" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136394328T>C" "" "pathogenic (recessive)" "" "0001030899" "11" "90" "9" "139275263" "139275263" "subst" "8.16353E-6" "00006" "SNAPC4_000023" "g.139275263G>A" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136380811G>A" "" "pathogenic (recessive)" "" "0001030900" "3" "90" "9" "139274288" "139274288" "subst" "4.09115E-6" "00006" "SNAPC4_000022" "g.139274288C>T" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136379836C>T" "" "pathogenic (recessive)" "" "0001030901" "3" "90" "9" "139274288" "139274288" "subst" "4.09115E-6" "00006" "SNAPC4_000022" "g.139274288C>T" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136379836C>T" "" "pathogenic (recessive)" "" "0001030902" "3" "90" "9" "139274288" "139274288" "subst" "4.09115E-6" "00006" "SNAPC4_000022" "g.139274288C>T" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136379836C>T" "" "pathogenic (recessive)" "" "0001030903" "11" "90" "9" "139277726" "139277736" "del" "0" "00006" "SNAPC4_000025" "g.139277726_139277736del" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136383274_136383284del" "" "pathogenic (recessive)" "" "0001030904" "21" "90" "9" "139289331" "139289332" "del" "8.15036E-5" "00006" "SNAPC4_000013" "g.139289331_139289332del" "" "{PMID:Frost 2023:36965478}" "" "472-1_472-2del" "" "Germline" "" "" "0" "" "" "g.136394879_136394880del" "" "pathogenic (recessive)" "" "0001030905" "21" "90" "9" "139281936" "139281936" "subst" "0" "00006" "SNAPC4_000027" "g.139281936C>A" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136387484C>A" "" "pathogenic (recessive)" "" "0001030906" "11" "90" "9" "139282267" "139282267" "subst" "1.21852E-5" "00006" "SNAPC4_000029" "g.139282267T>C" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136387815T>C" "" "pathogenic (recessive)" "" "0001030907" "11" "90" "9" "139282267" "139282267" "subst" "1.21852E-5" "00006" "SNAPC4_000029" "g.139282267T>C" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136387815T>C" "" "pathogenic (recessive)" "" "0001030908" "21" "90" "9" "139276275" "139276275" "subst" "0" "00006" "SNAPC4_000024" "g.139276275C>A" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136381823C>A" "" "pathogenic (recessive)" "" "0001030909" "21" "90" "9" "139287120" "139287120" "subst" "0" "00006" "SNAPC4_000015" "g.139287120C>A" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136392668C>A" "" "pathogenic (recessive)" "" "0001030910" "21" "90" "9" "139273379" "139273379" "subst" "0" "00006" "SNAPC4_000021" "g.139273379C>A" "" "{PMID:Frost 2023:36965478}" "" "" "" "Germline" "" "" "0" "" "" "g.136378927C>A" "" "pathogenic (recessive)" "" "0001037308" "0" "50" "9" "139273668" "139273668" "subst" "0.000409162" "01804" "SNAPC4_000008" "g.139273668C>G" "" "" "" "SNAPC4(NM_003086.3):c.2611G>C (p.(Val871Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037309" "0" "50" "9" "139278013" "139278021" "del" "0" "01804" "SNAPC4_000009" "g.139278013_139278021del" "" "" "" "SNAPC4(NM_003086.3):c.1618_1626del (p.(Ser540_Ser542del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037310" "0" "30" "9" "139286443" "139286443" "subst" "0.00196953" "01804" "SNAPC4_000010" "g.139286443G>A" "" "" "" "SNAPC4(NM_003086.3):c.926C>T (p.(Ala309Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037311" "0" "30" "9" "139286965" "139286965" "subst" "0.000731303" "01804" "SNAPC4_000011" "g.139286965C>T" "" "" "" "SNAPC4(NM_003086.3):c.810+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037312" "0" "30" "9" "139287053" "139287053" "subst" "0.000597134" "01804" "SNAPC4_000012" "g.139287053G>A" "" "" "" "SNAPC4(NM_003086.3):c.738-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037313" "0" "50" "9" "139292802" "139292802" "subst" "4.06081E-6" "01804" "SNAPC4_000016" "g.139292802C>T" "" "" "" "SNAPC4(NM_003086.3):c.79G>A (p.(Gly27Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001053424" "0" "50" "9" "139281967" "139281967" "subst" "0" "01804" "SNAPC4_000030" "g.139281967G>A" "" "" "" "SNAPC4(NM_003086.3):c.1295C>T (p.(Pro432Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053425" "0" "50" "9" "139287056" "139287056" "subst" "4.06223E-6" "01804" "SNAPC4_000031" "g.139287056G>A" "" "" "" "SNAPC4(NM_003086.3):c.738-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065171" "0" "50" "9" "139272464" "139272469" "dup" "0" "01804" "CARD9_000050" "g.139272464_139272469dup" "" "" "" "SNAPC4(NM_003086.3):c.3814_3819dup (p.(Gly1272_Leu1273dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065172" "0" "50" "9" "139282902" "139282902" "subst" "7.35787E-5" "01804" "SNAPC4_000032" "g.139282902G>A" "" "" "" "SNAPC4(NM_003086.3):c.1117C>T (p.(Arg373Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001075984" "0" "70" "9" "139277726" "139277736" "del" "0" "03565" "SNAPC4_000025" "g.139277726_139277736del" "" "" "" "chr9-136383270-CCTGGCAGGGA-" "" "Germline" "" "" "0" "" "" "g.136383274_136383284del" "" "likely pathogenic" "" "0001075985" "0" "70" "9" "139278469" "139278469" "subst" "8.14365E-6" "03565" "SNAPC4_000026" "g.139278469A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136384017A>G" "" "VUS" "" "0001075986" "0" "70" "9" "139289770" "139289770" "subst" "0" "03565" "SNAPC4_000033" "g.139289770T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136395318T>A" "" "likely pathogenic" "" "0001075987" "0" "70" "9" "139274288" "139274288" "subst" "4.09115E-6" "03565" "SNAPC4_000022" "g.139274288C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136379836C>T" "" "likely pathogenic" "" "0001075988" "0" "70" "9" "139272907" "139272914" "del" "0" "03565" "SNAPC4_000034" "g.139272907_139272914del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136378455_136378462del" "" "likely pathogenic" "" "0001075989" "0" "70" "9" "139272907" "139272914" "del" "0" "03565" "SNAPC4_000034" "g.139272907_139272914del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136378455_136378462del" "" "likely pathogenic" "" "0001075990" "0" "70" "9" "139289312" "139289312" "subst" "4.07057E-6" "03565" "SNAPC4_000035" "g.139289312C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136394860C>G" "" "VUS" "" "0001075991" "0" "70" "9" "139272496" "139272526" "del" "0" "03565" "SNAPC4_000037" "g.139272496_139272526del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136378044_136378074del" "" "likely pathogenic" "" "0001075992" "0" "70" "9" "139271997" "139271997" "subst" "0" "03565" "SNAPC4_000036" "g.139271997G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136377545G>C" "" "VUS" "" "0001075993" "0" "70" "9" "139275281" "139275281" "subst" "3.26744E-5" "03565" "SNAPC4_000039" "g.139275281C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136380829C>T" "" "VUS" "" "0001075994" "0" "70" "9" "139273508" "139273508" "subst" "0.000114307" "03565" "SNAPC4_000038" "g.139273508G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136379056G>A" "" "VUS" "" "0001075995" "0" "70" "9" "139282213" "139282213" "subst" "0" "03565" "SNAPC4_000007" "g.139282213C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136387761C>T" "" "likely pathogenic" "" "0001075996" "0" "70" "9" "139282018" "139282018" "subst" "0" "03565" "SNAPC4_000006" "g.139282018G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136387566G>A" "" "VUS" "" "0001075997" "0" "70" "9" "139282946" "139282946" "subst" "8.14021E-6" "03565" "SNAPC4_000041" "g.139282946G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136388494G>A" "" "VUS" "" "0001075998" "0" "70" "9" "139270857" "139270857" "subst" "2.03169E-5" "03565" "SNAPC4_000040" "g.139270857A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136376405A>T" "" "VUS" "" "0001075999" "0" "70" "9" "139281956" "139281956" "subst" "4.06157E-6" "03565" "SNAPC4_000043" "g.139281956C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136387504C>T" "" "VUS" "" "0001076000" "0" "70" "9" "139272155" "139272155" "subst" "4.13268E-6" "03565" "SNAPC4_000042" "g.139272155G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136377703G>A" "" "VUS" "" "0001076001" "0" "70" "9" "139286455" "139286455" "subst" "0" "03565" "SNAPC4_000045" "g.139286455A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136392003A>T" "" "VUS" "" "0001076002" "0" "70" "9" "139275191" "139278485" "del" "0" "03565" "SNAPC4_000044" "g.(139274317_139275191)_(139278485_139279171)del" "" "" "" "del ex14-19" "" "Germline" "" "" "0" "" "" "g.(136379865_136380739)_(136384033_136384719)del" "" "likely pathogenic" "" "0001076003" "0" "70" "9" "139276704" "139276704" "subst" "0" "03565" "SNAPC4_000046" "g.139276704C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136382252C>A" "" "likely pathogenic" "" ## 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 SNAPC4 ## Count = 89 "{{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}}" "0000266482" "00019502" "50" "9646" "0" "9648" "0" "c.*5236_*5238del" "r.(=)" "p.(=)" "" "0000269747" "00019502" "10" "8265" "0" "8265" "0" "c.*3855C>T" "r.(=)" "p.(=)" "" "0000269748" "00019502" "30" "8274" "0" "8274" "0" "c.*3864G>A" "r.(=)" "p.(=)" "" "0000269749" "00019502" "10" "8800" "0" "8800" "0" "c.*4390C>T" "r.(=)" "p.(=)" "" "0000269750" "00019502" "30" "8869" "0" "8869" "0" "c.*4459G>A" "r.(=)" "p.(=)" "" "0000269751" "00019502" "10" "8174" "0" "8174" "0" "c.*3764G>A" "r.(=)" "p.(=)" "" "0000269752" "00019502" "10" "9582" "0" "9582" "0" "c.*5172G>A" "r.(=)" "p.(=)" "" "0000272618" "00019502" "30" "8151" "0" "8151" "0" "c.*3741C>T" "r.(=)" "p.(=)" "" "0000272620" "00019502" "50" "9240" "0" "9240" "0" "c.*4830C>T" "r.(=)" "p.(=)" "" "0000272621" "00019502" "50" "9263" "0" "9263" "0" "c.*4853C>T" "r.(=)" "p.(=)" "" "0000272622" "00019502" "50" "9526" "0" "9526" "0" "c.*5116C>T" "r.(=)" "p.(=)" "" "0000272625" "00019502" "30" "8148" "0" "8148" "0" "c.*3738C>A" "r.(=)" "p.(=)" "" "0000537157" "00019502" "50" "9336" "0" "9336" "0" "c.*4926A>G" "r.(=)" "p.(=)" "" "0000537158" "00019502" "30" "8860" "0" "8860" "0" "c.*4450C>A" "r.(=)" "p.(=)" "" "0000537159" "00019502" "30" "8151" "0" "8151" "0" "c.*3741C>T" "r.(=)" "p.(=)" "" "0000537160" "00019502" "30" "3940" "0" "3940" "0" "c.3940C>T" "r.(?)" "p.(Leu1314=)" "" "0000537161" "00019502" "50" "2707" "0" "2707" "0" "c.2707C>T" "r.(?)" "p.(Gln903Ter)" "" "0000537162" "00019502" "30" "2054" "0" "2054" "0" "c.2054G>A" "r.(?)" "p.(Arg685Gln)" "" "0000537163" "00019502" "30" "1740" "0" "1740" "0" "c.1740C>T" "r.(?)" "p.(Ser580=)" "" "0000537164" "00019502" "30" "-5765" "0" "-5765" "0" "c.-5765C>T" "r.(?)" "p.(=)" "" "0000611989" "00019502" "50" "9572" "0" "9572" "0" "c.*5162G>A" "r.(=)" "p.(=)" "" "0000656288" "00019502" "30" "9156" "0" "9156" "0" "c.*4746C>T" "r.(=)" "p.(=)" "" "0000678590" "00019502" "30" "8860" "0" "8860" "0" "c.*4450C>A" "r.(=)" "p.(=)" "" "0000690461" "00019502" "30" "9300" "0" "9300" "0" "c.*4890G>A" "r.(=)" "p.(=)" "" "0000722385" "00019502" "10" "9263" "0" "9263" "0" "c.*4853C>T" "r.(=)" "p.(=)" "" "0000803979" "00019502" "50" "9528" "0" "9528" "0" "c.*5118C>G" "r.(=)" "p.(=)" "" "0000803980" "00019502" "50" "9527" "0" "9527" "0" "c.*5117T>G" "r.(=)" "p.(=)" "" "0000861563" "00019502" "30" "9265" "0" "9265" "0" "c.*4855G>A" "r.(=)" "p.(=)" "" "0000861564" "00019502" "30" "8840" "0" "8840" "0" "c.*4430C>T" "r.(=)" "p.(=)" "" "0000861565" "00019502" "30" "8163" "0" "8163" "0" "c.*3753C>T" "r.(=)" "p.(=)" "" "0000888728" "00019502" "30" "9080" "0" "9080" "0" "c.*4670C>T" "r.(=)" "p.(=)" "" "0000913122" "00019502" "30" "9261" "0" "9261" "0" "c.*4851G>A" "r.(=)" "p.(=)" "" "0000929568" "00019502" "50" "9643" "0" "9643" "0" "c.*5233C>T" "r.(=)" "p.(=)" "" "0000965291" "00019502" "30" "1621" "0" "1626" "0" "c.1621_1626dup" "r.(?)" "p.(Ser541_Ser542dup)" "" "0000978538" "00019502" "70" "2428" "0" "2428" "0" "c.2428C>T" "r.(?)" "p.(Arg810*)" "" "0000978539" "00019502" "30" "810" "8" "810" "9" "c.810+8_810+9del" "r.(=)" "p.(=)" "" "0000978540" "00019502" "70" "737" "5" "737" "5" "c.737+5G>T" "r.spl?" "p.?" "" "0000997654" "00019502" "30" "3784" "0" "3784" "0" "c.3784C>G" "r.(?)" "p.(Pro1262Ala)" "" "0000997655" "00019502" "50" "-6758" "0" "-6758" "0" "c.-6758C>T" "r.(?)" "p.(=)" "" "0001025638" "00019502" "50" "8876" "0" "8876" "0" "c.*4466G>A" "r.(=)" "p.(=)" "" "0001030857" "00019502" "70" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Trp404*)" "12" "0001030858" "00019502" "50" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.(Ala415Val)" "12" "0001030894" "00019502" "90" "1436" "0" "1436" "0" "c.1436T>C" "r.(?)" "p.(Ile479Thr)" "" "0001030895" "00019502" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Asp199Asn)" "" "0001030896" "00019502" "90" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Asp441Asn)" "" "0001030897" "00019502" "90" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Asp441Asn)" "" "0001030898" "00019502" "90" "553" "0" "553" "0" "c.553A>G" "r.(?)" "p.(Lys185Glu)" "" "0001030899" "00019502" "90" "2428" "0" "2428" "0" "c.2428C>T" "r.(?)" "p.(Arg810Ter)" "" "0001030900" "00019502" "90" "2527" "1" "2527" "1" "c.2527+1G>A" "r.2500_2527del" "p.Ser835ThrfsTer85" "" "0001030901" "00019502" "90" "2527" "1" "2527" "1" "c.2527+1G>A" "r.(2500_2527del)" "p.(Ser835ThrfsTer85)" "" "0001030902" "00019502" "90" "2527" "1" "2527" "1" "c.2527+1G>A" "r.(2500_2527del)" "p.(Ser835ThrfsTer85)" "" "0001030903" "00019502" "90" "1889" "0" "1899" "0" "c.1889_1899del" "r.(?)" "p.(Val630GlyfsTer76" "" "0001030904" "00019502" "90" "472" "-2" "472" "-1" "c.472-2_472-1del" "r.471_472ins[c.471+1_472-3]" "p.Gly158ValfsTer65" "" "0001030905" "00019502" "90" "1325" "1" "1325" "1" "c.1325+1G>T" "r.1298_1325del" "p.Arg434GlyfsTer10" "" "0001030906" "00019502" "90" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Gln386Arg)" "" "0001030907" "00019502" "90" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Gln386Arg)" "" "0001030908" "00019502" "90" "2317" "1" "2317" "1" "c.2317+1G>T" "r.2254_2317del" "p.Val752ArgfsTer155" "" "0001030909" "00019502" "90" "737" "5" "737" "5" "c.737+5G>T" "r.737_738ins[GTGAT;737+6_738-1]" "p.Asn245LysfsTer2" "" "0001030910" "00019502" "90" "2900" "0" "2900" "0" "c.2900G>T" "r.(?)" "p.(Gly967Val)" "" "0001037308" "00019502" "50" "2611" "0" "2611" "0" "c.2611G>C" "r.(?)" "p.(Val871Leu)" "" "0001037309" "00019502" "50" "1618" "0" "1626" "0" "c.1618_1626del" "r.(?)" "p.(Ser540_Ser542del)" "" "0001037310" "00019502" "30" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0001037311" "00019502" "30" "810" "9" "810" "9" "c.810+9G>A" "r.(=)" "p.(=)" "" "0001037312" "00019502" "30" "738" "-7" "738" "-7" "c.738-7C>T" "r.(=)" "p.(=)" "" "0001037313" "00019502" "50" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Gly27Ser)" "" "0001053424" "00019502" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Pro432Leu)" "" "0001053425" "00019502" "50" "738" "-10" "738" "-10" "c.738-10C>T" "r.(=)" "p.(=)" "" "0001065171" "00019502" "50" "3814" "0" "3819" "0" "c.3814_3819dup" "r.(?)" "p.(Gly1272_Leu1273dup)" "" "0001065172" "00019502" "50" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0001075984" "00019502" "70" "1889" "0" "1899" "0" "c.1889_1899del" "r.(?)" "p.(Val630Glyfs*76)" "" "0001075985" "00019502" "70" "1436" "0" "1436" "0" "c.1436T>C" "r.(?)" "p.(Ile479Thr)" "" "0001075986" "00019502" "70" "451" "0" "451" "0" "c.451A>T" "r.(?)" "p.(Lys151*)" "" "0001075987" "00019502" "70" "2527" "1" "2527" "1" "c.2527+1G>A" "r.spl" "p.(Ser835Thrfs*86)" "" "0001075988" "00019502" "70" "3378" "0" "3385" "0" "c.3378_3385del" "r.(?)" "p.(Arg1126Serfs*58)" "" "0001075989" "00019502" "70" "3378" "0" "3385" "0" "c.3378_3385del" "r.(?)" "p.(Arg1126Serfs*58)" "" "0001075990" "00019502" "70" "490" "0" "490" "0" "c.490G>C" "r.(?)" "p.(Asp164His)" "" "0001075991" "00019502" "70" "3758" "0" "3788" "0" "c.3758_3788del" "r.(?)" "p.(Asp1253Glyfs*144)" "" "0001075992" "00019502" "70" "4282" "0" "4282" "0" "c.4282C>G" "r.(?)" "p.(Gln1428Glu)" "" "0001075993" "00019502" "70" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Gly804Ser)" "" "0001075994" "00019502" "70" "2771" "0" "2771" "0" "c.2771C>T" "r.(?)" "p.(Ser924Phe)" "" "0001075995" "00019502" "70" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Trp404*)" "" "0001075996" "00019502" "70" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.(Ala415Val)" "" "0001075997" "00019502" "70" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Thr358Met)" "" "0001075998" "00019502" "70" "4361" "0" "4361" "0" "c.4361T>A" "r.(?)" "p.(Leu1454His)" "" "0001075999" "00019502" "70" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Asp436Asn)" "" "0001076000" "00019502" "70" "4124" "0" "4124" "0" "c.4124C>T" "r.(?)" "p.(Pro1375Leu)" "" "0001076001" "00019502" "70" "914" "0" "914" "0" "c.914T>A" "r.(?)" "p.(Leu305Gln)" "" "0001076002" "00019502" "70" "1421" "-1" "2499" "1" "c.(1420+1_1421-1)_(2499+1_2500-1)del" "r.?" "p.?" "13i_19i" "0001076003" "00019502" "70" "2067" "1" "2067" "1" "c.2067+1G>T" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 39 "{{screeningid}}" "{{variantid}}" "0000466871" "0001030857" "0000466871" "0001030858" "0000466879" "0001030894" "0000466879" "0001030904" "0000466880" "0001030895" "0000466880" "0001030905" "0000466881" "0001030896" "0000466881" "0001030906" "0000466882" "0001030897" "0000466882" "0001030907" "0000466883" "0001030898" "0000466883" "0001030908" "0000466884" "0001030899" "0000466884" "0001030909" "0000466885" "0001030900" "0000466886" "0001030901" "0000466887" "0001030902" "0000466888" "0001030903" "0000466888" "0001030910" "0000479988" "0001075984" "0000479988" "0001075985" "0000479989" "0001075986" "0000479990" "0001075987" "0000479991" "0001075988" "0000479992" "0001075989" "0000479992" "0001075990" "0000479993" "0001075991" "0000479993" "0001075992" "0000479994" "0001075993" "0000479994" "0001075994" "0000479995" "0001075995" "0000479995" "0001075996" "0000479996" "0001075997" "0000479996" "0001075998" "0000479997" "0001075999" "0000479997" "0001076000" "0000479998" "0001076001" "0000479998" "0001076002" "0000479999" "0001076003"