### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SYNJ1) # 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}}" "SYNJ1" "synaptojanin 1" "21" "q22.2" "unknown" "NG_030017.1" "UD_132377431402" "" "https://www.LOVD.nl/SYNJ1" "" "1" "11503" "8867" "604297" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SYNJ1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-03-15 16:34:31" "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}}" "00025699" "SYNJ1" "transcript variant 2" "003" "NM_203446.2" "" "NP_982271.2" "" "" "" "1" "7099" "4053" "34100351" "34001069" "00006" "2022-03-15 16:31:43" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00414" "PD" "Parkinson disease, susceptibility to" "AD;AR;Mu" "168600" "" "" "" "00006" "2014-06-15 21:26:13" "00006" "2023-10-27 16:16:06" "03991" "PARK20" "Parkinson disease, type 20, early-onset (PARK-20)" "AR" "615530" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06522" "EIEE53" "Epileptic encephalopathy, early infantile, 53" "AR" "617389" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SYNJ1" "03991" "SYNJ1" "06522" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00001237" "" "" "" "2" "" "00087" "{PMID:Quadri 2013:23804577}" "4-generation family, affected brother/sister" "-" "yes" "Italy" "" "0" "" "" "Sicily" "" "00054710" "" "" "" "2" "" "01459" "" "5-generation family, affected brother/sister, unaffected heterozygous carrier parents" "" "yes" "India" "" "0" "" "" "north india" "" "00292980" "" "" "" "107" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324887" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam21" "00405036" "" "" "" "1" "" "01164" "" "" "M" "yes" "Turkey" "" "0" "" "" "" "107758" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00001237" "00414" "00054710" "00414" "00292980" "00198" "00324887" "05611" "00405036" "06522" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00414, 03991, 05611, 06522 ## Count = 4 "{{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}}" "0000017498" "00414" "00001237" "00006" "Familial, autosomal recessive" "" "early-onset atypical Parkinsonism, no history of neurological diseases in pre-vious generations" "" "" "" "" "" "" "" "" "" "" "" "0000041389" "03991" "00054710" "01459" "Familial, autosomal recessive" "32y" "rest tremor, bradykinesia, rigidity, postural instability, drooling of saliva, intense dyskinesia and dystonia" "12y" "" "" "" "" "" "" "" "" "" "" "0000243383" "05611" "00324887" "00006" "Isolated (sporadic)" "09y" "see paper; ..., birth 40w, weight +0/13SD, OFC -1.3SD; weight -1.7SD, length -2.6SD, OFC -2.07SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; 35m-walk; speech delay; no speech; autistic behaviour; stereotypies; hyperactivity; feeding difficulties; sleeping disturbance; almond eyes; thin upper lip; epicanthus" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000297594" "06522" "00405036" "01164" "Familial, autosomal recessive" "06y" "Global developmental delay, Seizure, Generalized-onset seizure, Gait disturbance, Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure precipitated by febrile infection, EEG abnormality, Abnormal cerebral white matter morphology, Abnormal cerebral morphology, Abnormality of visual evoked potentials, Abnormal timing of flash visual evoked potentials, Abnormality of metabolism/homeostasis, Hypotonia, Infantile axial hypotonia, Recurrent fever, Fever, Oral motor hypotonia, Restlessness, Short attention span" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001004" "00001237" "1" "00087" "00087" "2013-06-09 13:37:12" "" "" "SEQ" "DNA" "" "" "0000054659" "00054710" "1" "01459" "01459" "2015-11-09 03:09:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000294148" "00292980" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000326094" "00324887" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000406274" "00405036" "1" "01164" "01164" "2022-03-14 11:42:08" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000001004" "SYNJ1" "0000054659" "SYNJ1" "0000326094" "EIF2C1" "0000406274" "SYNJ1" ## 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 = 107 "{{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}}" "0000018076" "0" "55" "21" "34099201" "34099201" "subst" "0.0051226" "00087" "SYNJ1_000001" "g.34099201C>T" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs61750221" "0" "" "" "g.32726890C>T" "" "VUS" "" "0000018077" "0" "55" "21" "34059352" "34059352" "subst" "0.277046" "00087" "SYNJ1_000003" "g.34059352T>C" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs2254562" "0" "" "" "g.32687042T>C" "" "VUS" "" "0000018078" "0" "55" "21" "34017978" "34017978" "subst" "0.00155907" "00087" "SYNJ1_000004" "g.34017978T>C" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "" "0" "" "" "g.32645668T>C" "" "VUS" "" "0000018079" "0" "55" "21" "34012040" "34012040" "subst" "0.000146227" "00087" "SYNJ1_000005" "g.34012040C>T" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "" "0" "" "" "g.32639730C>T" "" "VUS" "" "0000018080" "0" "55" "21" "34011412" "34011412" "subst" "0.0723326" "00087" "SYNJ1_000006" "g.34011412G>A" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "" "0" "" "" "g.32639102G>A" "" "VUS" "" "0000018081" "0" "55" "21" "34003929" "34003930" "ins" "0" "00087" "SYNJ1_000007" "g.34003929_34003930insGTATTA" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs71640263" "0" "" "" "g.32631619_32631620insGTATTA" "" "VUS" "" "0000018082" "0" "55" "21" "34003858" "34003858" "subst" "1.21999E-5" "00087" "SYNJ1_000009" "g.34003858C>T" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs112469776" "0" "" "" "g.32631548C>T" "" "VUS" "" "0000018083" "0" "55" "21" "34003880" "34003880" "subst" "2.03361E-5" "00087" "SYNJ1_000008" "g.34003880T>G" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "" "0" "" "" "g.32631570T>G" "" "VUS" "" "0000018084" "0" "55" "21" "34003786" "34003786" "subst" "0.0127769" "00087" "SYNJ1_000010" "g.34003786C>T" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs61750217" "0" "" "" "g.32631476C>T" "" "VUS" "" "0000018085" "0" "55" "21" "34003563" "34003563" "subst" "0.000584781" "00087" "SYNJ1_000011" "g.34003563C>T" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs146425050" "0" "" "" "g.32631253C>T" "" "VUS" "" "0000018086" "3" "90" "21" "34067416" "34067416" "subst" "1.21832E-5" "00087" "SYNJ1_000002" "g.34067416C>T" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32695106C>T" "" "pathogenic" "" "0000018087" "0" "55" "21" "34074505" "34074505" "subst" "0" "00087" "SYNJ1_000020" "g.34074505T>G" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs74625247" "0" "" "" "g.32702195T>G" "" "VUS" "" "0000018088" "0" "55" "21" "34074137" "34074137" "subst" "0" "00087" "SYNJ1_000019" "g.34074137T>C" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs184110321" "0" "" "" "g.32701827T>C" "" "VUS" "" "0000018089" "0" "55" "21" "34072139" "34072139" "subst" "0.0376435" "00087" "SYNJ1_000018" "g.34072139T>C" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs76502784" "0" "" "" "g.32699829T>C" "" "VUS" "" "0000018090" "0" "55" "21" "34060573" "34060573" "subst" "0.016035" "00087" "SYNJ1_000017" "g.34060573T>C" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs73194279" "0" "" "" "g.32688263T>C" "" "VUS" "" "0000018091" "0" "55" "21" "34059207" "34059207" "subst" "0" "00087" "SYNJ1_000016" "g.34059207C>T" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs844975" "0" "" "" "g.32686897C>T" "" "VUS" "" "0000018092" "0" "55" "21" "34058265" "34058265" "subst" "0.00445994" "00087" "SYNJ1_000015" "g.34058265T>G" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs143229035" "0" "" "" "g.32685955T>G" "" "VUS" "" "0000018093" "0" "55" "21" "34056293" "34056293" "subst" "0" "00087" "SYNJ1_000046" "g.34056293A>G" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs75924460" "0" "" "" "g.32683983A>G" "" "VUS" "" "0000018094" "0" "55" "21" "34056279" "34056279" "subst" "0" "00087" "SYNJ1_000014" "g.34056279A>G" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs111884129" "0" "" "" "g.32683969A>G" "" "VUS" "" "0000018095" "0" "55" "21" "34056075" "34056075" "subst" "0" "00087" "SYNJ1_000013" "g.34056075T>C" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs73194278" "0" "" "" "g.32683765T>C" "" "VUS" "" "0000018096" "0" "55" "21" "34053961" "34053961" "subst" "0.0734631" "00087" "SYNJ1_000012" "g.34053961T>A" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs844988" "0" "" "" "g.32681651T>A" "" "VUS" "" "0000018097" "0" "55" "21" "34053779" "34053779" "subst" "0.0107607" "00087" "SYNJ1_000034" "g.34053779G>A" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs80299581" "0" "" "" "g.32681469G>A" "" "VUS" "" "0000018098" "0" "55" "21" "34048724" "34048724" "subst" "0" "00087" "SYNJ1_000033" "g.34048724A>T" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs116389986" "0" "" "" "g.32676414A>T" "" "VUS" "" "0000018099" "0" "55" "21" "34042547" "34042547" "subst" "0" "00087" "SYNJ1_000032" "g.34042547T>C" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs114386610" "0" "" "" "g.32670237T>C" "" "VUS" "" "0000018100" "0" "55" "21" "34038983" "34038983" "subst" "0" "00087" "SYNJ1_000031" "g.34038983A>G" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs844998" "0" "" "" "g.32666673A>G" "" "VUS" "" "0000018101" "0" "55" "21" "34030292" "34030292" "subst" "0" "00087" "SYNJ1_000030" "g.34030292A>T" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "" "0" "" "" "g.32657982A>T" "" "VUS" "" "0000018102" "0" "55" "21" "34017857" "34017857" "subst" "0" "00087" "SYNJ1_000029" "g.34017857T>A" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs2406" "0" "" "" "g.32645547T>A" "" "VUS" "" "0000018103" "0" "55" "21" "34017445" "34017445" "subst" "0" "00087" "SYNJ1_000027" "g.34017445C>A" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs189532601" "0" "" "" "g.32645135C>A" "" "VUS" "" "0000018104" "0" "55" "21" "34017412" "34017412" "subst" "0" "00087" "SYNJ1_000026" "g.34017412A>T" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs34001349" "0" "" "" "g.32645102A>T" "" "VUS" "" "0000018105" "0" "55" "21" "34017518" "34017521" "del" "0" "00087" "SYNJ1_000028" "g.34017518_34017521del" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs142688189" "0" "" "" "g.32645208_32645211del" "" "VUS" "" "0000018106" "0" "55" "21" "34014472" "34014472" "subst" "0.0118456" "00087" "SYNJ1_000025" "g.34014472A>C" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "" "0" "" "" "g.32642162A>C" "" "VUS" "" "0000018107" "0" "55" "21" "34014283" "34014283" "subst" "0.289387" "00087" "SYNJ1_000024" "g.34014283C>A" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs2833929" "0" "" "" "g.32641973C>A" "" "VUS" "" "0000018108" "0" "55" "21" "34014192" "34014192" "subst" "0.213909" "00087" "SYNJ1_000023" "g.34014192G>A" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs11702774" "0" "" "" "g.32641882G>A" "" "VUS" "" "0000018109" "0" "55" "21" "34014078" "34014078" "subst" "0" "00087" "SYNJ1_000022" "g.34014078C>T" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs56238975" "0" "" "" "g.32641768C>T" "" "VUS" "" "0000018110" "0" "55" "21" "34011686" "34011686" "subst" "0" "00087" "SYNJ1_000021" "g.34011686C>G" "" "{PMID:Quadri 2013:23804577}" "" "" "" "Germline" "" "rs147026277" "0" "" "" "g.32639376C>G" "" "VUS" "" "0000084630" "3" "70" "21" "34053900" "34053900" "subst" "0" "01459" "SYNJ1_000035" "g.34053900C>G" "" "" "" "1376missenseG" "variant heterozygous in both parents, not present in 570 control chromosomes tested" "Germline" "yes" "" "0" "" "" "g.32681590C>G" "" "likely pathogenic" "" "0000250243" "0" "10" "21" "34050940" "34050940" "del" "0.135597" "02329" "SYNJ1_000042" "g.34050940del" "" "" "" "SYNJ1(NM_203446.3):c.1510+15delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32678630del" "" "benign" "" "0000250244" "0" "10" "21" "34050944" "34050944" "del" "0" "02329" "SYNJ1_000044" "g.34050944del" "" "" "" "SYNJ1(NM_003895.3):c.1627+13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32678634del" "" "benign" "" "0000250347" "0" "30" "21" "34003837" "34003837" "subst" "2.84682E-5" "02329" "SYNJ1_000036" "g.34003837A>C" "" "" "" "SYNJ1(NM_003895.3):c.4307T>G (p.I1436S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32631527A>C" "" "likely benign" "" "0000254636" "0" "30" "21" "34022534" "34022534" "subst" "6.60458E-5" "01943" "SYNJ1_000038" "g.34022534A>G" "" "" "" "SYNJ1(NM_203446.2):c.3114T>C (p.L1038=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32650224A>G" "" "likely benign" "" "0000313215" "0" "10" "21" "34059352" "34059352" "subst" "0.277046" "02329" "SYNJ1_000003" "g.34059352T>C" "" "" "" "SYNJ1(NM_003895.3):c.1001A>G (p.K334R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32687042T>C" "" "benign" "" "0000313216" "0" "10" "21" "34053961" "34053961" "subst" "0.0734631" "02329" "SYNJ1_000012" "g.34053961T>A" "" "" "" "SYNJ1(NM_003895.3):c.1318-3A>T, SYNJ1(NM_203446.3):c.1201-3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32681651T>A" "" "benign" "" "0000313217" "0" "10" "21" "34014192" "34014192" "subst" "0.213909" "02329" "SYNJ1_000023" "g.34014192G>A" "" "" "" "SYNJ1(NM_003895.3):c.3705+14C>T, SYNJ1(NM_203446.3):c.3588+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32641882G>A" "" "benign" "" "0000313218" "0" "10" "21" "34011412" "34011412" "subst" "0.0723326" "02329" "SYNJ1_000006" "g.34011412G>A" "" "" "" "SYNJ1(NM_003895.3):c.3838C>T (p.L1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32639102G>A" "" "benign" "" "0000313220" "0" "30" "21" "34003786" "34003786" "subst" "0.0127769" "02329" "SYNJ1_000010" "g.34003786C>T" "" "" "" "SYNJ1(NM_003895.3):c.4358G>A (p.G1453E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32631476C>T" "" "likely benign" "" "0000313221" "0" "30" "21" "34072139" "34072139" "subst" "0.0376435" "02329" "SYNJ1_000018" "g.34072139T>C" "" "" "" "SYNJ1(NM_003895.3):c.596+9A>G, SYNJ1(NM_203446.3):c.479+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32699829T>C" "" "likely benign" "" "0000313222" "0" "30" "21" "34067499" "34067499" "subst" "0.0048854" "02329" "SYNJ1_000045" "g.34067499T>C" "" "" "" "SYNJ1(NM_203446.3):c.573A>G (p.T191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32695189T>C" "" "likely benign" "" "0000316150" "0" "10" "21" "34059352" "34059352" "subst" "0.277046" "01943" "SYNJ1_000003" "g.34059352T>C" "" "" "" "SYNJ1(NM_003895.3):c.1001A>G (p.K334R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32687042T>C" "" "benign" "" "0000316151" "0" "10" "21" "34053961" "34053961" "subst" "0.0734631" "01943" "SYNJ1_000012" "g.34053961T>A" "" "" "" "SYNJ1(NM_003895.3):c.1318-3A>T, SYNJ1(NM_203446.3):c.1201-3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32681651T>A" "" "benign" "" "0000316152" "0" "30" "21" "34050940" "34050942" "delins" "0" "01943" "SYNJ1_000043" "g.34050940_34050942delinsT" "" "" "" "SYNJ1(NM_003895.3):c.1627+13_1627+15delTATinsA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32678630_32678632delinsT" "" "likely benign" "" "0000316153" "0" "30" "21" "34045830" "34045830" "subst" "0.000624958" "01943" "SYNJ1_000041" "g.34045830C>T" "" "" "" "SYNJ1(NM_203446.2):c.1663G>A (p.V555I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32673520C>T" "" "likely benign" "" "0000316154" "0" "50" "21" "34037273" "34037273" "subst" "0.000117849" "01943" "SYNJ1_000040" "g.34037273C>A" "" "" "" "SYNJ1(NM_003895.3):c.2371G>T (p.D791Y), SYNJ1(NM_203446.2):c.2371G>T (p.D791Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32664963C>A" "" "VUS" "" "0000316155" "0" "30" "21" "34030141" "34030141" "subst" "0.000796767" "01943" "SYNJ1_000039" "g.34030141C>T" "" "" "" "SYNJ1(NM_203446.2):c.2463G>A (p.P821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32657831C>T" "" "likely benign" "" "0000316156" "0" "30" "21" "34017978" "34017978" "subst" "0.00155907" "01943" "SYNJ1_000004" "g.34017978T>C" "" "" "" "SYNJ1(NM_203446.2):c.3486A>G (p.P1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32645668T>C" "" "likely benign" "" "0000316157" "0" "10" "21" "34014192" "34014192" "subst" "0.213909" "01943" "SYNJ1_000023" "g.34014192G>A" "" "" "" "SYNJ1(NM_003895.3):c.3705+14C>T, SYNJ1(NM_203446.3):c.3588+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32641882G>A" "" "benign" "" "0000316158" "0" "30" "21" "34012088" "34012088" "subst" "0.00147859" "01943" "SYNJ1_000037" "g.34012088G>A" "" "" "" "SYNJ1(NM_003895.3):c.3707C>T (p.T1236M), SYNJ1(NM_203446.2):c.3707C>T (p.T1236M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32639778G>A" "" "likely benign" "" "0000316159" "0" "10" "21" "34011412" "34011412" "subst" "0.0723326" "01943" "SYNJ1_000006" "g.34011412G>A" "" "" "" "SYNJ1(NM_003895.3):c.3838C>T (p.L1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32639102G>A" "" "benign" "" "0000316160" "0" "30" "21" "34011371" "34011371" "subst" "8.12203E-5" "01943" "SYNJ1_000048" "g.34011371G>A" "" "" "" "SYNJ1(NM_003895.3):c.3879C>T (p.P1293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32639061G>A" "" "likely benign" "" "0000316162" "0" "30" "21" "34003563" "34003563" "subst" "0.000584781" "01943" "SYNJ1_000011" "g.34003563C>T" "" "" "" "SYNJ1(NM_003895.3):c.4581G>A (p.E1527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32631253C>T" "" "likely benign" "" "0000570509" "0" "50" "21" "34003837" "34003837" "subst" "2.84682E-5" "01943" "SYNJ1_000036" "g.34003837A>C" "" "" "" "SYNJ1(NM_003895.3):c.4307T>G (p.I1436S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32631527A>C" "" "VUS" "" "0000570510" "0" "10" "21" "34003929" "34003930" "ins" "0" "01943" "SYNJ1_000007" "g.34003929_34003930insGTATTA" "" "" "" "SYNJ1(NM_003895.3):c.4215_4216insAATACT (p.V1405_L1406insNT)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32631619_32631620insGTATTA" "" "benign" "" "0000570511" "0" "10" "21" "34003929" "34003930" "ins" "0" "02329" "SYNJ1_000007" "g.34003929_34003930insGTATTA" "" "" "" "SYNJ1(NM_003895.3):c.4215_4216insAATACT (p.V1405_L1406insNT)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32631619_32631620insGTATTA" "" "benign" "" "0000570512" "0" "30" "21" "34004111" "34004111" "subst" "0.000601497" "01943" "SYNJ1_000049" "g.34004111C>T" "" "" "" "SYNJ1(NM_003895.3):c.4033G>A (p.V1345I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32631801C>T" "" "likely benign" "" "0000570513" "0" "30" "21" "34011368" "34011368" "subst" "3.65556E-5" "01943" "SYNJ1_000050" "g.34011368C>T" "" "" "" "SYNJ1(NM_203446.2):c.3882G>A (p.P1294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32639058C>T" "" "likely benign" "" "0000570514" "0" "30" "21" "34012088" "34012088" "subst" "0.00147859" "02326" "SYNJ1_000037" "g.34012088G>A" "" "" "" "SYNJ1(NM_003895.3):c.3707C>T (p.T1236M), SYNJ1(NM_203446.2):c.3707C>T (p.T1236M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32639778G>A" "" "likely benign" "" "0000570515" "0" "30" "21" "34014214" "34014214" "subst" "5.34293E-5" "01943" "SYNJ1_000051" "g.34014214C>G" "" "" "" "SYNJ1(NM_203446.2):c.3697G>C (p.A1233P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32641904C>G" "" "likely benign" "" "0000570516" "0" "10" "21" "34014283" "34014283" "subst" "0.289387" "01943" "SYNJ1_000024" "g.34014283C>A" "" "" "" "SYNJ1(NM_003895.3):c.3635-7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32641973C>A" "" "benign" "" "0000570517" "0" "10" "21" "34014283" "34014283" "subst" "0.289387" "02329" "SYNJ1_000024" "g.34014283C>A" "" "" "" "SYNJ1(NM_003895.3):c.3635-7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32641973C>A" "" "benign" "" "0000570518" "0" "30" "21" "34037301" "34037301" "subst" "0.000418495" "01943" "SYNJ1_000052" "g.34037301A>T" "" "" "" "SYNJ1(NM_203446.2):c.2343T>A (p.V781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32664991A>T" "" "likely benign" "" "0000570519" "0" "50" "21" "34037326" "34037326" "subst" "8.12777E-6" "01943" "SYNJ1_000053" "g.34037326C>T" "" "" "" "SYNJ1(NM_203446.2):c.2318G>A (p.R773Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32665016C>T" "" "VUS" "" "0000570520" "0" "30" "21" "34037355" "34037355" "subst" "5.34557E-5" "01943" "SYNJ1_000054" "g.34037355A>G" "" "" "" "SYNJ1(NM_203446.2):c.2289T>C (p.Y763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32665045A>G" "" "likely benign" "" "0000570521" "0" "30" "21" "34038781" "34038781" "subst" "0.000845123" "01943" "SYNJ1_000055" "g.34038781C>T" "" "" "" "SYNJ1(NM_203446.2):c.2031G>A (p.L677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32666471C>T" "" "likely benign" "" "0000570522" "0" "30" "21" "34038789" "34038789" "subst" "0.000816642" "01943" "SYNJ1_000056" "g.34038789C>T" "" "" "" "SYNJ1(NM_203446.2):c.2023G>A (p.V675I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32666479C>T" "" "likely benign" "" "0000570523" "0" "30" "21" "34058049" "34058049" "subst" "9.21353E-6" "01943" "SYNJ1_000057" "g.34058049C>T" "" "" "" "SYNJ1(NM_203446.2):c.1235+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32685739C>T" "" "likely benign" "" "0000570524" "0" "30" "21" "34067360" "34067360" "subst" "0.00281804" "02326" "SYNJ1_000058" "g.34067360T>C" "" "" "" "SYNJ1(NM_203446.2):c.822+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32695050T>C" "" "likely benign" "" "0000618323" "0" "30" "21" "34003563" "34003563" "subst" "0.000584781" "02326" "SYNJ1_000011" "g.34003563C>T" "" "" "" "SYNJ1(NM_003895.3):c.4581G>A (p.E1527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32631253C>T" "" "likely benign" "" "0000618324" "0" "50" "21" "34029189" "34029189" "subst" "8.12704E-6" "02325" "SYNJ1_000059" "g.34029189A>G" "" "" "" "SYNJ1(NM_203446.3):c.2603T>C (p.I868T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32656879A>G" "" "VUS" "" "0000618325" "0" "30" "21" "34030141" "34030141" "subst" "0.000796767" "02326" "SYNJ1_000039" "g.34030141C>T" "" "" "" "SYNJ1(NM_203446.2):c.2463G>A (p.P821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32657831C>T" "" "likely benign" "" "0000618326" "0" "90" "21" "34099164" "34099164" "dup" "0" "02327" "SYNJ1_000062" "g.34099164dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32726853dup" "" "pathogenic" "" "0000624202" "0" "30" "21" "34029303" "34029303" "subst" "4.09715E-6" "01943" "SYNJ1_000060" "g.34029303C>T" "" "" "" "SYNJ1(NM_203446.2):c.2696+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32656993C>T" "" "likely benign" "" "0000624203" "0" "50" "21" "34074317" "34074317" "subst" "2.47602E-5" "01943" "SYNJ1_000061" "g.34074317T>C" "" "" "" "SYNJ1(NM_203446.2):c.282A>G (p.K94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32702007T>C" "" "VUS" "" "0000650837" "1" "10" "21" "34003786" "34003786" "subst" "0.0127769" "03575" "SYNJ1_000010" "g.34003786C>T" "107/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "107 heterozygous, no homozygous; {DB:CLININrs61750217}" "Germline" "" "rs61750217" "0" "" "" "g.32631476C>T" "" "benign" "" "0000658818" "0" "30" "21" "34003715" "34003715" "subst" "0" "01943" "SYNJ1_000063" "g.34003715T>C" "" "" "" "SYNJ1(NM_003895.3):c.4429A>G (p.I1477V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32631405T>C" "" "likely benign" "" "0000658819" "0" "30" "21" "34022588" "34022588" "subst" "0.000597775" "02326" "SYNJ1_000064" "g.34022588C>A" "" "" "" "SYNJ1(NM_203446.2):c.3060G>T (p.M1020I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32650278C>A" "" "likely benign" "" "0000658820" "0" "10" "21" "34066636" "34066636" "dup" "0" "02330" "SYNJ1_000065" "g.34066636dup" "" "" "" "SYNJ1(NM_203446.2):c.823-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32694326dup" "" "benign" "" "0000681706" "0" "30" "21" "34017978" "34017978" "subst" "0.00155907" "02326" "SYNJ1_000004" "g.34017978T>C" "" "" "" "SYNJ1(NM_203446.2):c.3486A>G (p.P1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681707" "0" "50" "21" "34018828" "34018828" "subst" "4.06062E-6" "01943" "SYNJ1_000066" "g.34018828G>C" "" "" "" "SYNJ1(NM_203446.2):c.3239C>G (p.S1080C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681708" "0" "30" "21" "34059353" "34059353" "subst" "0.000378955" "01943" "SYNJ1_000067" "g.34059353T>G" "" "" "" "SYNJ1(NM_203446.2):c.1000A>C (p.K334Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693029" "0" "30" "21" "34003387" "34003387" "subst" "0.000816555" "01943" "SYNJ1_000068" "g.34003387G>A" "" "" "" "SYNJ1(NM_003895.3):c.4757C>T (p.P1586L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693030" "0" "30" "21" "34022635" "34022635" "subst" "0" "01943" "SYNJ1_000069" "g.34022635T>C" "" "" "" "SYNJ1(NM_203446.2):c.3013A>G (p.I1005V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693031" "0" "30" "21" "34058146" "34058146" "subst" "0.000590405" "01943" "SYNJ1_000070" "g.34058146C>T" "" "" "" "SYNJ1(NM_203446.2):c.1147G>A (p.A383T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727876" "0" "50" "21" "34037273" "34037273" "subst" "0.000117849" "02325" "SYNJ1_000040" "g.34037273C>A" "" "" "" "SYNJ1(NM_003895.3):c.2371G>T (p.D791Y), SYNJ1(NM_203446.2):c.2371G>T (p.D791Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727877" "0" "30" "21" "34038427" "34038427" "subst" "0.000375795" "02326" "SYNJ1_000071" "g.34038427A>G" "" "" "" "SYNJ1(NM_203446.2):c.2088T>C (p.T696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809360" "0" "30" "21" "34022524" "34022524" "subst" "0" "01943" "SYNJ1_000072" "g.34022524C>T" "" "" "" "SYNJ1(NM_203446.2):c.3124G>A (p.A1042T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809361" "0" "30" "21" "34022576" "34022576" "subst" "6.90928E-5" "02326" "SYNJ1_000073" "g.34022576T>C" "" "" "" "SYNJ1(NM_203446.2):c.3072A>G (p.K1024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809362" "0" "50" "21" "34053864" "34053864" "subst" "0" "01943" "SYNJ1_000074" "g.34053864T>G" "" "" "" "SYNJ1(NM_203446.2):c.1412A>C (p.N471T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000842556" "3" "50" "21" "34018063" "34018063" "subst" "0" "01164" "SYNJ1_000075" "g.34018063G>A" "" "" "" "" "ACMG: PM3_SUP, PM2_SUP" "Germline" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000855949" "0" "50" "21" "34012083" "34012083" "subst" "5.69712E-5" "01943" "SYNJ1_000076" "g.34012083G>A" "" "" "" "SYNJ1(NM_203446.2):c.3712C>T (p.P1238S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866613" "0" "90" "21" "34100338" "34100338" "subst" "0" "01943" "PAXBP1_000003" "g.34100338C>T" "" "" "" "SYNJ1(NM_203446.2):c.14G>A (p.W5*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000880114" "21" "70" "21" "34018701" "34018701" "subst" "0" "00006" "SYNJ1_000077" "g.34018701A>C" "" "{PMID:Schalk 2022:34930816}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000970277" "0" "50" "21" "34018741" "34018741" "subst" "1.21823E-5" "02325" "SYNJ1_000078" "g.34018741C>T" "" "" "" "SYNJ1(NM_003895.3):c.3326G>A (p.R1109Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970279" "0" "10" "21" "34066636" "34066636" "dup" "0" "02329" "SYNJ1_000065" "g.34066636dup" "" "" "" "SYNJ1(NM_203446.3):c.706-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970280" "0" "30" "21" "34099201" "34099201" "subst" "0.0051226" "01943" "SYNJ1_000001" "g.34099201C>T" "" "" "" "SYNJ1(NM_003895.3):c.123G>A (p.A41=), SYNJ1(NM_203446.2):c.123G>A (p.A41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983960" "0" "50" "21" "34100261" "34100261" "subst" "0" "01804" "PAXBP1_000004" "g.34100261T>A" "" "" "" "SYNJ1(NM_003895.3):c.91A>T (p.(Lys31*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005665" "0" "30" "21" "34003942" "34003942" "subst" "8.13001E-6" "01804" "SYNJ1_000079" "g.34003942G>A" "" "" "" "SYNJ1(NM_203446.2):c.*173C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043559" "0" "30" "21" "34072138" "34072138" "subst" "0" "01804" "SYNJ1_000080" "g.34072138A>G" "" "" "" "SYNJ1(NM_203446.3):c.479+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056991" "0" "50" "21" "34060664" "34060664" "subst" "8.15222E-6" "01804" "SYNJ1_000081" "g.34060664C>T" "" "" "" "SYNJ1(NM_203446.3):c.803G>A (p.(Arg268His))" "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 SYNJ1 ## Count = 107 "{{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}}" "0000018076" "00025699" "55" "123" "0" "123" "0" "c.123G>A" "r.(=)" "p.(=)" "" "0000018077" "00025699" "55" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Lys334Arg)" "" "0000018078" "00025699" "55" "3486" "0" "3486" "0" "c.3486A>G" "r.(=)" "p.(=)" "" "0000018079" "00025699" "55" "3755" "0" "3755" "0" "c.3755G>A" "r.(?)" "p.(Arg1252Gln)" "" "0000018080" "00025699" "55" "3838" "0" "3838" "0" "c.3838C>T" "r.(=)" "p.(=)" "" "0000018081" "00025699" "55" "4238" "0" "4239" "0" "c.*185_*186insTAATAC" "r.(=)" "p.(=)" "" "0000018082" "00025699" "55" "4310" "0" "4310" "0" "c.*257G>A" "r.(=)" "p.(=)" "" "0000018083" "00025699" "55" "4288" "0" "4288" "0" "c.*235A>C" "r.(=)" "p.(=)" "" "0000018084" "00025699" "55" "4382" "0" "4382" "0" "c.*329G>A" "r.(=)" "p.(=)" "" "0000018085" "00025699" "55" "4605" "0" "4605" "0" "c.*552G>A" "r.(=)" "p.(=)" "" "0000018086" "00025699" "90" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Arg258Gln)" "" "0000018087" "00025699" "55" "242" "-148" "242" "-148" "c.242-148A>C" "r.(=)" "p.(=)" "" "0000018088" "00025699" "55" "328" "134" "328" "134" "c.328+134A>G" "r.(=)" "p.(=)" "" "0000018089" "00025699" "55" "596" "9" "596" "9" "c.596+9A>G" "r.(=)" "p.(=)" "" "0000018090" "00025699" "55" "968" "43" "968" "43" "c.968+43A>G" "r.(=)" "p.(=)" "" "0000018091" "00025699" "55" "1065" "81" "1065" "81" "c.1065+81G>A" "r.(=)" "p.(=)" "" "0000018092" "00025699" "55" "1066" "-38" "1066" "-38" "c.1066-38A>C" "r.(=)" "p.(=)" "" "0000018093" "00025699" "55" "1317" "55" "1317" "55" "c.1317+55T>C" "r.(=)" "p.(=)" "" "0000018094" "00025699" "55" "1317" "69" "1317" "69" "c.1317+69T>C" "r.(=)" "p.(=)" "" "0000018095" "00025699" "55" "1317" "273" "1317" "273" "c.1317+273A>G" "r.(=)" "p.(=)" "" "0000018096" "00025699" "55" "1318" "-3" "1318" "-3" "c.1318-3A>T" "r.spl?" "p.?" "" "0000018097" "00025699" "55" "1470" "27" "1470" "27" "c.1470+27C>T" "r.(=)" "p.(=)" "" "0000018098" "00025699" "55" "1628" "-59" "1628" "-59" "c.1628-59T>A" "r.(=)" "p.(=)" "" "0000018099" "00025699" "55" "1928" "51" "1928" "51" "c.1928+51A>G" "r.(=)" "p.(=)" "" "0000018100" "00025699" "55" "1929" "-100" "1929" "-100" "c.1929-100T>C" "r.(=)" "p.(=)" "" "0000018101" "00025699" "55" "2422" "-110" "2422" "-110" "c.2422-110T>A" "r.(=)" "p.(=)" "" "0000018102" "00025699" "55" "3508" "99" "3508" "99" "c.3508+99A>T" "r.(=)" "p.(=)" "" "0000018103" "00025699" "55" "3509" "-129" "3509" "-129" "c.3509-129G>T" "r.(=)" "p.(=)" "" "0000018104" "00025699" "55" "3509" "-96" "3509" "-96" "c.3509-96T>A" "r.(=)" "p.(=)" "" "0000018105" "00025699" "55" "3509" "-205" "3509" "-202" "c.3509-205_3509-202del" "r.(=)" "p.(=)" "" "0000018106" "00025699" "55" "3596" "-29" "3596" "-29" "c.3596-29T>G" "r.(=)" "p.(=)" "" "0000018107" "00025699" "55" "3635" "-7" "3635" "-7" "c.3635-7G>T" "r.(=)" "p.(=)" "" "0000018108" "00025699" "55" "3705" "14" "3705" "14" "c.3705+14C>T" "r.(=)" "p.(=)" "" "0000018109" "00025699" "55" "3705" "128" "3705" "128" "c.3705+128G>A" "r.(=)" "p.(=)" "" "0000018110" "00025699" "55" "3815" "-251" "3815" "-251" "c.3815-251G>C" "r.(=)" "p.(=)" "" "0000084630" "00025699" "70" "1376" "0" "1376" "0" "c.1376G>C" "r.(?)" "p.(Arg459Pro)" "" "0000250243" "00025699" "10" "1627" "15" "1627" "15" "c.1627+15del" "r.(=)" "p.(=)" "" "0000250244" "00025699" "10" "1627" "13" "1627" "13" "c.1627+13del" "r.(=)" "p.(=)" "" "0000250347" "00025699" "30" "4331" "0" "4331" "0" "c.*278T>G" "r.(=)" "p.(=)" "" "0000254636" "00025699" "30" "3114" "0" "3114" "0" "c.3114T>C" "r.(?)" "p.(Leu1038=)" "" "0000313215" "00025699" "10" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Lys334Arg)" "" "0000313216" "00025699" "10" "1318" "-3" "1318" "-3" "c.1318-3A>T" "r.spl?" "p.?" "" "0000313217" "00025699" "10" "3705" "14" "3705" "14" "c.3705+14C>T" "r.(=)" "p.(=)" "" "0000313218" "00025699" "10" "3838" "0" "3838" "0" "c.3838C>T" "r.(?)" "p.(Leu1280=)" "" "0000313220" "00025699" "30" "4382" "0" "4382" "0" "c.*329G>A" "r.(=)" "p.(=)" "" "0000313221" "00025699" "30" "596" "9" "596" "9" "c.596+9A>G" "r.(=)" "p.(=)" "" "0000313222" "00025699" "30" "690" "0" "690" "0" "c.690A>G" "r.(?)" "p.(Thr230=)" "" "0000316150" "00025699" "10" "1001" "0" "1001" "0" "c.1001A>G" "r.(?)" "p.(Lys334Arg)" "" "0000316151" "00025699" "10" "1318" "-3" "1318" "-3" "c.1318-3A>T" "r.spl?" "p.?" "" "0000316152" "00025699" "30" "1627" "13" "1627" "15" "c.1627+13_1627+15delinsA" "r.(=)" "p.(=)" "" "0000316153" "00025699" "30" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Val555Ile)" "" "0000316154" "00025699" "50" "2371" "0" "2371" "0" "c.2371G>T" "r.(?)" "p.(Asp791Tyr)" "" "0000316155" "00025699" "30" "2463" "0" "2463" "0" "c.2463G>A" "r.(?)" "p.(Pro821=)" "" "0000316156" "00025699" "30" "3486" "0" "3486" "0" "c.3486A>G" "r.(?)" "p.(Pro1162=)" "" "0000316157" "00025699" "10" "3705" "14" "3705" "14" "c.3705+14C>T" "r.(=)" "p.(=)" "" "0000316158" "00025699" "30" "3707" "0" "3707" "0" "c.3707C>T" "r.(?)" "p.(Thr1236Met)" "" "0000316159" "00025699" "10" "3838" "0" "3838" "0" "c.3838C>T" "r.(?)" "p.(Leu1280=)" "" "0000316160" "00025699" "30" "3879" "0" "3879" "0" "c.3879C>T" "r.(?)" "p.(Pro1293=)" "" "0000316162" "00025699" "30" "4605" "0" "4605" "0" "c.*552G>A" "r.(=)" "p.(=)" "" "0000570509" "00025699" "50" "4331" "0" "4331" "0" "c.*278T>G" "r.(=)" "p.(=)" "" "0000570510" "00025699" "10" "4239" "0" "4240" "0" "c.*186_*187insAATACT" "r.(=)" "p.(=)" "" "0000570511" "00025699" "10" "4239" "0" "4240" "0" "c.*186_*187insAATACT" "r.(=)" "p.(=)" "" "0000570512" "00025699" "30" "4057" "0" "4057" "0" "c.*4G>A" "r.(=)" "p.(=)" "" "0000570513" "00025699" "30" "3882" "0" "3882" "0" "c.3882G>A" "r.(?)" "p.(Pro1294=)" "" "0000570514" "00025699" "30" "3707" "0" "3707" "0" "c.3707C>T" "r.(?)" "p.(Thr1236Met)" "" "0000570515" "00025699" "30" "3697" "0" "3697" "0" "c.3697G>C" "r.(?)" "p.(Ala1233Pro)" "" "0000570516" "00025699" "10" "3635" "-7" "3635" "-7" "c.3635-7G>T" "r.(=)" "p.(=)" "" "0000570517" "00025699" "10" "3635" "-7" "3635" "-7" "c.3635-7G>T" "r.(=)" "p.(=)" "" "0000570518" "00025699" "30" "2343" "0" "2343" "0" "c.2343T>A" "r.(?)" "p.(Val781=)" "" "0000570519" "00025699" "50" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773Gln)" "" "0000570520" "00025699" "30" "2289" "0" "2289" "0" "c.2289T>C" "r.(?)" "p.(Tyr763=)" "" "0000570521" "00025699" "30" "2031" "0" "2031" "0" "c.2031G>A" "r.(?)" "p.(Leu677=)" "" "0000570522" "00025699" "30" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "" "0000570523" "00025699" "30" "1235" "9" "1235" "9" "c.1235+9G>A" "r.(=)" "p.(=)" "" "0000570524" "00025699" "30" "822" "7" "822" "7" "c.822+7A>G" "r.(=)" "p.(=)" "" "0000618323" "00025699" "30" "4605" "0" "4605" "0" "c.*552G>A" "r.(=)" "p.(=)" "" "0000618324" "00025699" "50" "2720" "0" "2720" "0" "c.2720T>C" "r.(?)" "p.(Ile907Thr)" "" "0000618325" "00025699" "30" "2463" "0" "2463" "0" "c.2463G>A" "r.(?)" "p.(Pro821=)" "" "0000618326" "00025699" "90" "164" "0" "164" "0" "c.164dup" "r.(?)" "p.(Pro56ThrfsTer9)" "" "0000624202" "00025699" "30" "2696" "10" "2696" "10" "c.2696+10G>A" "r.(=)" "p.(=)" "" "0000624203" "00025699" "50" "282" "0" "282" "0" "c.282A>G" "r.(?)" "p.(Lys94=)" "" "0000650837" "00025699" "10" "4382" "0" "4382" "0" "c.*329G>A" "r.(=)" "p.(=)" "" "0000658818" "00025699" "30" "4453" "0" "4453" "0" "c.*400A>G" "r.(=)" "p.(=)" "" "0000658819" "00025699" "30" "3060" "0" "3060" "0" "c.3060G>T" "r.(?)" "p.(Met1020Ile)" "" "0000658820" "00025699" "10" "823" "-7" "823" "-7" "c.823-7dup" "r.(=)" "p.(=)" "" "0000681706" "00025699" "30" "3486" "0" "3486" "0" "c.3486A>G" "r.(?)" "p.(Pro1162=)" "" "0000681707" "00025699" "50" "3239" "0" "3239" "0" "c.3239C>G" "r.(?)" "p.(Ser1080Cys)" "" "0000681708" "00025699" "30" "1000" "0" "1000" "0" "c.1000A>C" "r.(?)" "p.(Lys334Gln)" "" "0000693029" "00025699" "30" "4781" "0" "4781" "0" "c.*728C>T" "r.(=)" "p.(=)" "" "0000693030" "00025699" "30" "3013" "0" "3013" "0" "c.3013A>G" "r.(?)" "p.(Ile1005Val)" "" "0000693031" "00025699" "30" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Ala383Thr)" "" "0000727876" "00025699" "50" "2371" "0" "2371" "0" "c.2371G>T" "r.(?)" "p.(Asp791Tyr)" "" "0000727877" "00025699" "30" "2088" "0" "2088" "0" "c.2088T>C" "r.(?)" "p.(Thr696=)" "" "0000809360" "00025699" "30" "3124" "0" "3124" "0" "c.3124G>A" "r.(?)" "p.(Ala1042Thr)" "" "0000809361" "00025699" "30" "3072" "0" "3072" "0" "c.3072A>G" "r.(?)" "p.(Lys1024=)" "" "0000809362" "00025699" "50" "1412" "0" "1412" "0" "c.1412A>C" "r.(?)" "p.(Asn471Thr)" "" "0000842556" "00025699" "50" "3401" "0" "3401" "0" "c.3401C>T" "r.(?)" "p.(Pro1134Leu)" "" "0000855949" "00025699" "50" "3712" "0" "3712" "0" "c.3712C>T" "r.(?)" "p.(Pro1238Ser)" "" "0000866613" "00025699" "90" "14" "0" "14" "0" "c.14G>A" "r.(?)" "p.(Trp5*)" "" "0000880114" "00025699" "70" "3364" "2" "3364" "2" "c.3364+2T>G" "r.spl" "p.?" "" "0000970277" "00025699" "50" "3326" "0" "3326" "0" "c.3326G>A" "r.(?)" "p.(Arg1109Gln)" "" "0000970279" "00025699" "10" "823" "-7" "823" "-7" "c.823-7dup" "r.(=)" "p.(=)" "" "0000970280" "00025699" "30" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(=)" "" "0000983960" "00025699" "50" "91" "0" "91" "0" "c.91A>T" "r.(?)" "p.(Lys31*)" "" "0001005665" "00025699" "30" "4226" "0" "4226" "0" "c.*173C>T" "r.(=)" "p.(=)" "" "0001043559" "00025699" "30" "596" "10" "596" "10" "c.596+10T>C" "r.(=)" "p.(=)" "" "0001056991" "00025699" "50" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 39 "{{screeningid}}" "{{variantid}}" "0000001004" "0000018076" "0000001004" "0000018077" "0000001004" "0000018078" "0000001004" "0000018079" "0000001004" "0000018080" "0000001004" "0000018081" "0000001004" "0000018082" "0000001004" "0000018083" "0000001004" "0000018084" "0000001004" "0000018085" "0000001004" "0000018086" "0000001004" "0000018087" "0000001004" "0000018088" "0000001004" "0000018089" "0000001004" "0000018090" "0000001004" "0000018091" "0000001004" "0000018092" "0000001004" "0000018093" "0000001004" "0000018094" "0000001004" "0000018095" "0000001004" "0000018096" "0000001004" "0000018097" "0000001004" "0000018098" "0000001004" "0000018099" "0000001004" "0000018100" "0000001004" "0000018101" "0000001004" "0000018102" "0000001004" "0000018103" "0000001004" "0000018104" "0000001004" "0000018105" "0000001004" "0000018106" "0000001004" "0000018107" "0000001004" "0000018108" "0000001004" "0000018109" "0000001004" "0000018110" "0000054659" "0000084630" "0000294148" "0000650837" "0000326094" "0000880114" "0000406274" "0000842556"