### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UBE3B) # 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}}" "UBE3B" "ubiquitin protein ligase E3B" "12" "q24.12" "unknown" "NC_000012.11" "UD_136019981579" "" "https://www.LOVD.nl/UBE3B" "" "1" "13478" "89910" "608047" "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/UBE3B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-10-10 19:22:56" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00022269" "UBE3B" "transcript variant 3" "002" "NM_183415.2" "" "NP_904324.1" "" "" "" "-269" "5130" "3207" "109915428" "109974510" "" "0000-00-00 00:00:00" "" "" "00025858" "UBE3B" "transcript variant 1" "006" "NM_130466.3" "" "NP_569733.2" "" "" "" "-614" "5130" "3207" "109915428" "109974510" "00006" "2023-10-10 19:24:08" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05057" "KOS" "Kaufman oculocerebrofacial syndrome (KOS)" "AR" "244450" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "UBE3B" "00139" "UBE3B" "05057" ## 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}}" "00375520" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00387851" "" "" "" "4" "" "00006" "{PMID:Hu 2019:29302074}" "family, 4 affected individuals, third cousin parents" "" "yes" "" "" "0" "" "" "Arab" "M8900198" "00436806" "" "" "" "1" "" "04579" "" "" "" "" "" "" "" "" "" "" "" "00440440" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3257.1" "00448181" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat24" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00375520" "00198" "00387851" "00139" "00436806" "05057" "00440440" "00198" "00448181" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05057 ## Count = 5 "{{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}}" "0000270737" "00198" "00375520" "01807" "Unknown" "" "Renal cyst (HP:0000107); Microcephaly (HP:0000252); Hearing impairment (HP:0000365); Ptosis (HP:0000508); Failure to thrive (HP:0001508); Scoliosis (HP:0002650); Multiple joint contractures (HP:0002828); Myopathy (HP:0003198); Psychomotor retardation (HP:0025356)" "" "" "" "" "" "" "" "" "" "" "" "0000281419" "00139" "00387851" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000326909" "05057" "00436806" "04579" "Familial, autosomal recessive" "" "Micrognathia（HP:0000347），\r\nAbnormal pinna morphology（HP:0000377），\r\nVentriculomegaly（HP:0002119）" "" "" "" "" "" "" "" "" "" "25 weeks and 5 days" "" "0000330350" "00198" "00440440" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Kaufman oculocerebrofacial syndrome (MIM #244450)" "" "" "0000337391" "00198" "00448181" "00006" "Familial, autosomal recessive" "17y" "intellectual disability; microcephaly; microphthalmia; short stature; dysmorphic facial features; sibling with similar phenotype, deceased at 1 week of age" "" "" "" "" "" "" "" "" "" "rare disorder" "" ## 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}}" "0000376717" "00375520" "1" "01807" "01807" "2021-06-08 15:13:26" "00001" "2021-06-08 15:14:42" "SEQ" "DNA" "" "" "0000389082" "00387851" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438285" "00436806" "1" "04579" "04579" "2023-10-08 08:05:14" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000441925" "00440440" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449756" "00448181" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000389082" "UBE3B" ## 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 = 40 "{{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}}" "0000312929" "0" "10" "12" "109924385" "109924385" "subst" "0" "02325" "UBE3B_000002" "g.109924385C>A" "" "" "" "UBE3B(NM_130466.4):c.447+5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109486580C>A" "" "benign" "" "0000319233" "0" "30" "12" "109937514" "109937514" "subst" "0.000183217" "01943" "UBE3B_000007" "g.109937514C>G" "" "" "" "UBE3B(NM_130466.3):c.1017C>G (p.T339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109499709C>G" "" "likely benign" "" "0000323068" "0" "50" "12" "109924385" "109924392" "del" "0" "01804" "UBE3B_000001" "g.109924385_109924392del" "" "" "" "UBE3B(NM_001270449.1):c.447+3_447+10del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109486580_109486587del" "" "VUS" "" "0000323069" "0" "50" "12" "109924395" "109924408" "dup" "0" "01804" "UBE3B_000003" "g.109924395_109924408dup" "" "" "" "UBE3B(NM_001270449.1):c.447+5_447+6insAAAAAAAAAAAAAA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109486590_109486603dup" "" "VUS" "" "0000323070" "0" "30" "12" "109924399" "109924408" "dup" "0" "01804" "UBE3B_000004" "g.109924399_109924408dup" "" "" "" "UBE3B(NM_001270449.1):c.447+5_447+6insAAAAAAAAAA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109486594_109486603dup" "" "likely benign" "" "0000323072" "0" "50" "12" "109935639" "109935639" "subst" "1.62516E-5" "01804" "UBE3B_000006" "g.109935639C>T" "" "" "" "UBE3B(NM_130466.3):c.730C>T (p.Q244*, p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109497834C>T" "" "VUS" "" "0000323073" "0" "50" "12" "109939213" "109939213" "subst" "1.21837E-5" "01804" "UBE3B_000008" "g.109939213C>G" "" "" "" "UBE3B(NM_130466.3):c.1156C>G (p.(Gln386Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109501408C>G" "" "VUS" "" "0000323077" "0" "30" "12" "109967792" "109967792" "subst" "1.21817E-5" "01804" "UBE3B_000031" "g.109967792C>T" "" "" "" "UBE3B(NM_130466.3):c.2725C>T (p.(Pro909Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109529987C>T" "" "likely benign" "" "0000323080" "0" "50" "12" "109972445" "109972445" "subst" "1.64232E-5" "01804" "UBE3B_000014" "g.109972445G>A" "" "" "" "UBE3B(NM_130466.3):c.3065G>A (p.(Arg1022His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109534640G>A" "" "VUS" "" "0000336975" "0" "10" "12" "109915929" "109915929" "subst" "0" "02327" "UBE3B_000015" "g.109915929C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109478124C>G" "" "benign" "" "0000342693" "0" "10" "12" "109937534" "109937534" "subst" "0.50058" "02327" "UBE3B_000016" "g.109937534G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109499729G>A" "" "benign" "" "0000546371" "0" "30" "12" "109924401" "109924408" "del" "0" "01943" "UBE3B_000019" "g.109924401_109924408del" "" "" "" "UBE3B(NM_130466.3):c.447+21_447+28delAAAAAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109486596_109486603del" "" "likely benign" "" "0000546376" "0" "70" "12" "109935639" "109935639" "subst" "1.62516E-5" "02327" "UBE3B_000006" "g.109935639C>T" "" "" "" "UBE3B(NM_130466.3):c.730C>T (p.Q244*, p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109497834C>T" "" "likely pathogenic" "" "0000546379" "0" "50" "12" "109945527" "109945527" "subst" "5.71956E-5" "01943" "UBE3B_000026" "g.109945527C>T" "" "" "" "UBE3B(NM_130466.3):c.1609C>T (p.R537W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109507722C>T" "" "VUS" "" "0000546381" "0" "30" "12" "109958961" "109958961" "subst" "0.000491706" "01943" "UBE3B_000028" "g.109958961C>T" "" "" "" "UBE3B(NM_130466.3):c.2085C>T (p.Y695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109521156C>T" "" "likely benign" "" "0000546383" "0" "30" "12" "109961846" "109961846" "subst" "0" "01804" "UBE3B_000030" "g.109961846A>G" "" "" "" "UBE3B(NM_130466.3):c.2428A>G (p.(Ser810Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109524041A>G" "" "likely benign" "" "0000622772" "0" "30" "12" "109940955" "109940955" "subst" "0.000113716" "01943" "UBE3B_000032" "g.109940955G>A" "" "" "" "UBE3B(NM_130466.3):c.1410G>A (p.S470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109503150G>A" "" "likely benign" "" "0000656973" "0" "50" "12" "109935639" "109935639" "subst" "1.62516E-5" "01943" "UBE3B_000006" "g.109935639C>T" "" "" "" "UBE3B(NM_130466.3):c.730C>T (p.Q244*, p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109497834C>T" "" "VUS" "" "0000679387" "0" "70" "12" "109959099" "109959100" "del" "0" "01943" "UBE3B_000033" "g.109959099_109959100del" "" "" "" "UBE3B(NM_130466.3):c.2223_2224delAG (p.R741Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723802" "0" "50" "12" "109949025" "109949025" "subst" "2.84299E-5" "01943" "UBE3B_000034" "g.109949025G>A" "" "" "" "UBE3B(NM_130466.3):c.1873G>A (p.V625M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723803" "0" "50" "12" "109961792" "109961792" "subst" "0" "01943" "UBE3B_000035" "g.109961792G>A" "" "" "" "UBE3B(NM_130466.3):c.2374G>A (p.V792M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000788694" "0" "90" "12" "109939228" "109939228" "del" "0" "01807" "UBE3B_000036" "g.109939228del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.109501423del" "" "pathogenic" "" "0000788697" "0" "90" "12" "109972503" "109972511" "dup" "0" "01807" "UBE3B_000037" "g.109972503_109972511dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.109534698_109534706dup" "" "pathogenic" "" "0000805509" "0" "30" "12" "109939173" "109939173" "subst" "4.0627E-5" "02325" "UBE3B_000038" "g.109939173T>C" "" "" "" "UBE3B(NM_130466.4):c.1119-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805510" "0" "70" "12" "109949046" "109949047" "del" "1.21827E-5" "01943" "UBE3B_000039" "g.109949046_109949047del" "" "" "" "UBE3B(NM_130466.3):c.1894_1895delAG (p.R632Gfs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805511" "0" "30" "12" "109961848" "109961848" "subst" "0.005011" "01943" "UBE3B_000040" "g.109961848C>T" "" "" "" "UBE3B(NM_130466.3):c.2430C>T (p.S810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817875" "3" "50" "12" "109935697" "109935697" "subst" "4.06217E-6" "00006" "UBE3B_000041" "g.109935697T>C" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.109497892T>C" "" "VUS" "ACMG" "0000862787" "0" "50" "12" "109940978" "109940978" "subst" "0" "01943" "UBE3B_000042" "g.109940978G>A" "" "" "" "UBE3B(NM_130466.3):c.1433G>A (p.R478Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862788" "0" "30" "12" "109967764" "109967764" "subst" "0" "01943" "UBE3B_000043" "g.109967764C>A" "" "" "" "UBE3B(NM_130466.3):c.2697C>A (p.L899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862789" "0" "50" "12" "109968439" "109968439" "subst" "2.03044E-5" "01943" "UBE3B_000044" "g.109968439G>A" "" "" "" "UBE3B(NM_130466.3):c.2898G>A (p.P966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933899" "11" "70" "12" "109940822" "109940822" "subst" "0" "04579" "UBE3B_000045" "g.109940822T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.109503017T>G" "" "VUS" "ACMG" "0000933900" "21" "70" "12" "109928868" "109928872" "del" "0" "04579" "USP30_000002" "g.109928868_109928872del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.109491063_109491067del" "" "likely pathogenic" "ACMG" "0000939867" "3" "70" "12" "109967748" "109967748" "dup" "0" "00006" "UBE3B_000046" "g.109967748dup" "" "{PMID:Nambot 2018:29095811}" "" "2681dupA" "" "Germline" "" "" "0" "" "" "g.109529943dup" "" "likely pathogenic (recessive)" "" "0000960239" "3" "90" "12" "109921417" "109921417" "subst" "4.49409E-5" "00006" "UBE3B_000047" "g.109921417G>T" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.109483612G>T" "225041" "pathogenic (recessive)" "" "0000966674" "0" "10" "12" "109924408" "109924408" "dup" "0" "02329" "UBE3B_000048" "g.109924408dup" "" "" "" "UBE3B(NM_130466.4):c.447+28dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000999592" "0" "50" "12" "109971274" "109971274" "subst" "0" "01804" "UBE3B_000049" "g.109971274G>T" "" "" "" "UBE3B(NM_130466.3):c.2926G>T (p.(Val976Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999593" "0" "50" "12" "109972535" "109972535" "subst" "1.29924E-5" "01804" "UBE3B_000050" "g.109972535G>A" "" "" "" "UBE3B(NM_130466.3):c.3155G>A (p.(Arg1052His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014899" "0" "50" "12" "109924382" "109924382" "subst" "0" "02326" "UBE3B_000051" "g.109924382T>G" "" "" "" "UBE3B(NM_130466.4):c.447+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038918" "0" "50" "12" "109926450" "109926450" "subst" "4.06283E-6" "01804" "UBE3B_000052" "g.109926450C>T" "" "" "" "UBE3B(NM_130466.4):c.521C>T (p.(Thr174Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038919" "0" "50" "12" "109972547" "109972547" "subst" "9.01795E-6" "01804" "UBE3B_000053" "g.109972547G>A" "" "" "" "UBE3B(NM_130466.4):c.3167G>A (p.(Arg1056His))" "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 UBE3B ## Count = 73 "{{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}}" "0000312929" "00025858" "10" "447" "5" "447" "5" "c.447+5C>A" "r.spl?" "p.?" "" "0000312929" "00022269" "10" "447" "5" "447" "5" "c.447+5C>A" "r.spl?" "p.?" "" "0000319233" "00025858" "30" "1017" "0" "1017" "0" "c.1017C>G" "r.(?)" "p.(Thr339=)" "" "0000319233" "00022269" "30" "1017" "0" "1017" "0" "c.1017C>G" "r.(?)" "p.(Thr339=)" "" "0000323068" "00025858" "50" "447" "5" "447" "12" "c.447+5_447+12del" "r.spl?" "p.?" "" "0000323068" "00022269" "50" "447" "5" "447" "12" "c.447+5_447+12del" "r.spl?" "p.?" "" "0000323069" "00025858" "50" "447" "15" "447" "28" "c.447+15_447+28dup" "r.(=)" "p.(=)" "" "0000323069" "00022269" "50" "447" "15" "447" "28" "c.447+15_447+28dup" "r.(=)" "p.(=)" "" "0000323070" "00025858" "30" "447" "19" "447" "28" "c.447+19_447+28dup" "r.(=)" "p.(=)" "" "0000323070" "00022269" "30" "447" "19" "447" "28" "c.447+19_447+28dup" "r.(=)" "p.(=)" "" "0000323072" "00025858" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Gln244Ter)" "" "0000323072" "00022269" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Gln244Ter)" "" "0000323073" "00025858" "50" "1156" "0" "1156" "0" "c.1156C>G" "r.(?)" "p.(Gln386Glu)" "" "0000323073" "00022269" "50" "1156" "0" "1156" "0" "c.1156C>G" "r.(?)" "p.(Gln386Glu)" "" "0000323077" "00025858" "30" "2725" "0" "2725" "0" "c.2725C>T" "r.(?)" "p.(Pro909Ser)" "" "0000323077" "00022269" "30" "2725" "0" "2725" "0" "c.2725C>T" "r.(?)" "p.(Pro909Ser)" "" "0000323080" "00025858" "50" "3065" "0" "3065" "0" "c.3065G>A" "r.(?)" "p.(Arg1022His)" "" "0000323080" "00022269" "50" "3065" "0" "3065" "0" "c.3065G>A" "r.(?)" "p.(Arg1022His)" "" "0000336975" "00025858" "10" "-128" "15" "-128" "15" "c.-128+15C>G" "r.(=)" "p.(=)" "" "0000336975" "00022269" "10" "-128" "360" "-128" "360" "c.-128+360C>G" "r.(=)" "p.(=)" "" "0000342693" "00025858" "10" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Arg346Gln)" "" "0000342693" "00022269" "10" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Arg346Gln)" "" "0000546371" "00025858" "30" "447" "21" "447" "28" "c.447+21_447+28del" "r.(=)" "p.(=)" "" "0000546371" "00022269" "30" "447" "21" "447" "28" "c.447+21_447+28del" "r.(=)" "p.(=)" "" "0000546376" "00025858" "70" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Gln244Ter)" "" "0000546376" "00022269" "70" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Gln244Ter)" "" "0000546379" "00025858" "50" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Trp)" "" "0000546379" "00022269" "50" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Trp)" "" "0000546381" "00025858" "30" "2085" "0" "2085" "0" "c.2085C>T" "r.(?)" "p.(Tyr695=)" "" "0000546381" "00022269" "30" "2085" "0" "2085" "0" "c.2085C>T" "r.(?)" "p.(Tyr695=)" "" "0000546383" "00025858" "30" "2428" "0" "2428" "0" "c.2428A>G" "r.(?)" "p.(Ser810Gly)" "" "0000546383" "00022269" "30" "2428" "0" "2428" "0" "c.2428A>G" "r.(?)" "p.(Ser810Gly)" "" "0000622772" "00025858" "30" "1410" "0" "1410" "0" "c.1410G>A" "r.(?)" "p.(Ser470=)" "" "0000622772" "00022269" "30" "1410" "0" "1410" "0" "c.1410G>A" "r.(?)" "p.(Ser470=)" "" "0000656973" "00025858" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Gln244Ter)" "" "0000656973" "00022269" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Gln244Ter)" "" "0000679387" "00025858" "70" "2223" "0" "2224" "0" "c.2223_2224del" "r.(?)" "p.(Arg741SerfsTer3)" "" "0000679387" "00022269" "70" "2223" "0" "2224" "0" "c.2223_2224del" "r.(?)" "p.(Arg741SerfsTer3)" "" "0000723802" "00025858" "50" "1873" "0" "1873" "0" "c.1873G>A" "r.(?)" "p.(Val625Met)" "" "0000723802" "00022269" "50" "1873" "0" "1873" "0" "c.1873G>A" "r.(?)" "p.(Val625Met)" "" "0000723803" "00025858" "50" "2374" "0" "2374" "0" "c.2374G>A" "r.(?)" "p.(Val792Met)" "" "0000723803" "00022269" "50" "2374" "0" "2374" "0" "c.2374G>A" "r.(?)" "p.(Val792Met)" "" "0000788694" "00022269" "90" "1171" "0" "1171" "0" "c.1171del" "r.(?)" "p.(Val391CysfsTer3)" "" "0000788697" "00022269" "90" "3123" "0" "3131" "0" "c.3123_3131dup" "r.(?)" "p.(Lys1041_Pro1043dup)" "" "0000805509" "00025858" "30" "1119" "-3" "1119" "-3" "c.1119-3T>C" "r.spl?" "p.?" "" "0000805509" "00022269" "30" "1119" "-3" "1119" "-3" "c.1119-3T>C" "r.spl?" "p.?" "" "0000805510" "00025858" "70" "1894" "0" "1895" "0" "c.1894_1895del" "r.(?)" "p.(Arg632Glyfs*67)" "" "0000805510" "00022269" "70" "1894" "0" "1895" "0" "c.1894_1895del" "r.(?)" "p.(Arg632Glyfs*67)" "" "0000805511" "00025858" "30" "2430" "0" "2430" "0" "c.2430C>T" "r.(?)" "p.(Ser810=)" "" "0000805511" "00022269" "30" "2430" "0" "2430" "0" "c.2430C>T" "r.(?)" "p.(Ser810=)" "" "0000817875" "00022269" "50" "788" "0" "788" "0" "c.788T>C" "r.(?)" "p.(Leu263Pro)" "" "0000862787" "00025858" "50" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478Gln)" "" "0000862787" "00022269" "50" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478Gln)" "" "0000862788" "00025858" "30" "2697" "0" "2697" "0" "c.2697C>A" "r.(?)" "p.(Leu899=)" "" "0000862788" "00022269" "30" "2697" "0" "2697" "0" "c.2697C>A" "r.(?)" "p.(Leu899=)" "" "0000862789" "00025858" "50" "2898" "0" "2898" "0" "c.2898G>A" "r.(?)" "p.(Pro966=)" "" "0000862789" "00022269" "50" "2898" "0" "2898" "0" "c.2898G>A" "r.(?)" "p.(Pro966=)" "" "0000933899" "00022269" "70" "1283" "-6" "1283" "-6" "c.1283-6T>G" "r.spl?" "p.?" "" "0000933900" "00025858" "70" "645" "0" "649" "0" "c.645_649del" "r.(?)" "p.(Leu217Lysfs*55)" "" "0000939867" "00025858" "70" "2681" "0" "2681" "0" "c.2681dup" "r.(?)" "p.(Asn894LysfsTer8)" "25" "0000960239" "00025858" "90" "61" "0" "61" "0" "c.61G>T" "r.(?)" "p.(Glu21Ter)" "" "0000966674" "00025858" "10" "447" "28" "447" "28" "c.447+28dup" "r.(=)" "p.(=)" "" "0000966674" "00022269" "10" "447" "28" "447" "28" "c.447+28dup" "r.(=)" "p.(=)" "" "0000999592" "00025858" "50" "2926" "0" "2926" "0" "c.2926G>T" "r.(?)" "p.(Val976Leu)" "" "0000999592" "00022269" "50" "2926" "0" "2926" "0" "c.2926G>T" "r.(?)" "p.(Val976Leu)" "" "0000999593" "00025858" "50" "3155" "0" "3155" "0" "c.3155G>A" "r.(?)" "p.(Arg1052His)" "" "0000999593" "00022269" "50" "3155" "0" "3155" "0" "c.3155G>A" "r.(?)" "p.(Arg1052His)" "" "0001014899" "00025858" "50" "447" "2" "447" "2" "c.447+2T>G" "r.spl?" "p.?" "" "0001014899" "00022269" "50" "447" "2" "447" "2" "c.447+2T>G" "r.spl?" "p.?" "" "0001038918" "00025858" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Thr174Met)" "" "0001038918" "00022269" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Thr174Met)" "" "0001038919" "00025858" "50" "3167" "0" "3167" "0" "c.3167G>A" "r.(?)" "p.(Arg1056His)" "" "0001038919" "00022269" "50" "3167" "0" "3167" "0" "c.3167G>A" "r.(?)" "p.(Arg1056His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000376717" "0000788694" "0000376717" "0000788697" "0000389082" "0000817875" "0000438285" "0000933899" "0000438285" "0000933900" "0000441925" "0000939867" "0000449756" "0000960239"