### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRA2B) # 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}}" "TRA2B" "transformer 2 beta homolog (Drosophila)" "3" "q26.2-q27" "unknown" "NC_000003.11" "UD_132085329848" "" "https://www.LOVD.nl/TRA2B" "" "1" "10781" "6434" "602719" "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/TRA2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-09-10 10:54:25" "00006" "2026-09-10 15:14:17" ## 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}}" "00021729" "TRA2B" "transformer 2 beta homolog (Drosophila)" "001" "NM_004593.2" "" "NP_004584.1" "" "" "" "-276" "4014" "867" "185655924" "185632356" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07282" "RAMELN" "Ramond-Elliott neurodevelopmental syndrome" "AD" "621421" "" "" "" "00006" "2026-09-10 10:55:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TRA2B" "05611" "TRA2B" "07282" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00484598" "" "" "" "1" "" "00006" "{PMID:Shatokhina 2023:37958557}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Russia" "" "0" "" "" "" "FamPatII1" "00484608" "" "" "" "1" "" "00006" "{PMID:Ramond 2023:36549593}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat1" "00484609" "" "" "" "1" "" "00006" "{PMID:Ramond 2023:36549593}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Denmark" "" "0" "" "" "" "Pat2" "00484610" "" "" "" "1" "" "00006" "{PMID:Ramond 2023:36549593}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Israel" "" "0" "" "" "" "Pat3" "00484611" "" "" "" "1" "" "00006" "{PMID:Ramond 2023:36549593}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "" "Pat4" "00484612" "" "" "" "1" "" "00006" "{PMID:Ramond 2023:36549593}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat5" "00484613" "" "" "" "1" "" "00006" "{PMID:Ramond 2023:36549593}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Germany" "" "0" "" "" "" "Pat6" "00484614" "" "" "" "1" "" "00006" "{PMID:Ramond 2023:36549593}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat7" "00484615" "" "" "" "2" "" "00006" "{PMID:Ramond 2023:36549593}" "2-generation family, affected son/father, unaffected non-carrier parents" "M" "" "Chile" "" "0" "" "" "" "FamPat8" "00484616" "" "" "00484615" "1" "" "00006" "{PMID:Ramond 2023:36549593}" "father" "M" "" "Chile" "" "0" "" "" "" "FamPat9" "00484617" "" "" "" "1" "" "00006" "{PMID:Ramond 2023:36549593}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Italy" "" "0" "" "" "" "Pat10" "00484618" "" "" "" "1" "" "00006" "{PMID:Ramond 2023:36549593}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Saudi Arabia" "" "0" "" "" "" "Pat11" "00484619" "" "" "" "1" "" "00006" "{PMID:Ramond 2023:36549593}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Germany" "" "0" "" "" "" "Pat12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00484598" "05611" "00484608" "05611" "00484609" "05611" "00484610" "05611" "00484611" "05611" "00484612" "05611" "00484613" "05611" "00484614" "05611" "00484615" "05611" "00484616" "05611" "00484617" "05611" "00484618" "05611" "00484619" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611, 07282 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000367385" "05611" "00484598" "00006" "Isolated (sporadic)" "01y02m" "see paper; ..., seizures, neurodevelopmental delay." "" "" "" "" "" "RAMELN" "seizures" "0000367392" "05611" "00484608" "00006" "Isolated (sporadic)" "7y" "see paper; ..., developmental delay/intellectual disability; delayed walk (unspecified); delayed speech (unspecified); no behavioural anomalies; 5m-infantile spasms; MRI brain anomalies; no cardiac anomalies; intermittent extropia, myopia, astigmatism; 5th finger clinodactyly; pes planus in both feet; normal spine; constipation; night awakening" "" "" "" "" "" "RAMELN" "neurodevelopmental disorder" "0000367393" "05611" "00484609" "00006" "Isolated (sporadic)" "13y" "see paper; ..., profound developmental delay/intellectual disability; axial hypotonia; nonambulant, walked assisted; no speech, only sounds; self-injuries, stereotypies; 3m-infantile spasms; EEG reduced background activity and multifocal interictal epileptic discharges; MRI brain anomalies; no cardiac anomalies; cortical visual impairment, hypermetropy; brachydactyly and 2-3, 3-4 and 4-5 syndactyly; brachydactyly and 2-3 (y- shaped), 3-4 and 4-5 syndactyly; lumbar scoliosis; reflux, chronic constipation; high demand for sleep; nephrocalcinosis" "" "" "" "" "" "RAMELN" "neurodevelopmental disorder" "0000367394" "05611" "00484610" "00006" "Isolated (sporadic)" "7y" "see paper; ..., severe developmental delay/intellectual disability; global hypotonia; 4y-walk (assisted only); no speech; repetitive head movement; 4m-epileptic encephalopthy; EEG hypsarrythmia; MRI brain anomalies; no cardiac anomalies; mild cortical visual impairment; normal hands; normal feet; mild acquired scoliosis; feeding difficulties (resolved); no sleeping disorder; mild rhizomelia (both arms)" "" "" "" "" "" "RAMELN" "neurodevelopmental disorder" "0000367395" "05611" "00484611" "00006" "Isolated (sporadic)" "5y" "see paper; ..., severe developmental delay/intellectual disability; neonatal axia hypotonia; nonambulant, can stand; no speech; autism spectrum disorder; no seizures; MRI brain anomalies; small patent ductus arteriosus, benign patent foramen ovale; astigmatism; normal hands; normal feet; normal spine; feeding difficulties, constipation; no sleeping disorder; cold hands/feets" "" "" "" "" "" "RAMELN" "neurodevelopmental disorder" "0000367396" "05611" "00484612" "00006" "Isolated (sporadic)" "8y" "see paper; ..., severe developmental delay/intellectual disability; hypotonia (resolved); 3y-walk; no speech; autism spectrum disorder, self-injuries; infantile spasms; EEG hypsarrythmia as infant now normal; MRI brain anomalies; no cardiac anomalies; intermittent exotropia; normal hands; normal feet; normal spine; feeding difficulties, constipations; periods of disrupted sleep; very sensitive to food texures" "" "" "" "" "" "RAMELN" "neurodevelopmental disorder" "0000367397" "05611" "00484613" "00006" "Isolated (sporadic)" "7y" "see paper; ..., mild-moderate developmental delay/intellectual disability; hypotonia; 2y6m-walk; speech very short sentences; sometimes aggressive; no seizures; EEG subtle changes; MRI brain anomalies; no cardiac anomalies; no visual anomalies; tapering fingers; normal feet; normal spine; digestive problems, not severe; no sleeping disorder" "" "" "" "" "" "RAMELN" "neurodevelopmental disorder" "0000367398" "05611" "00484614" "00006" "Isolated (sporadic)" "13y" "see paper; ..., severe-profound developmental delay/intellectual disability; hypotonia; 6y-walk; no speech; demanding; 9m-infantile spasms; EEG initially chaotic pattern, not typical of hypsarryhthmia.; MRI brain normal; benign patent foramen ovale, mild pulmonic valve stenosis; mild- moderate cerebral visual impairment; thin fingers; mild cutaneous syndactyly 2/3 and 3/4; normal feet; normal spine; fed with soft diet for practicality; night awakening (partially resolved); daytime spasms responding to carbamazepine; high pain threshold; delayed puberty" "" "" "" "" "" "RAMELN" "neurodevelopmental disorder" "0000367399" "05611" "00484615" "00006" "Familial, autosomal dominant" "4y" "see paper; ..., moderate-severe developmental delay/intellectual disability; severe hypotonia; 2y5m-walk; 1y8m-first words; autism spectrum disorder, self-injuries; no seizures; 1y/4y-EEG normal; MRI brain anomalies; no cardiac anomalies; no visual anomalies; brachydactyly (all fingers); normal feet; normal spine; no digestive problems; no sleeping disorder; growth hormone deficiency" "" "" "" "" "" "RAMELN" "neurodevelopmental disorder" "0000367400" "05611" "00484616" "00006" "Unknown" "31y" "see paper; ..., mild-moderate developmental delay/intellectual disability; hypotonia (when child); 1y8m-walk; 1y2m-first words; no behavioural anomalies; no seizures; no cardiac anomalies; brachydactyly (all fingers), clinodactyly; brachydactyly (all toes); thoracic kyphosis; no digestive problems; no sleeping disorder; obesity" "" "" "" "" "" "RAMELN" "neurodevelopmental disorder" "0000367401" "05611" "00484617" "00006" "Isolated (sporadic)" "14y" "see paper; ..., moderate-severe developmental delay/intellectual disability; no hypotonia; 2y7m-walk; no speech; frustration intolerance, self-injuries; 6m-infantile spasms; EEG rare epileptiform abnormalities during sleep in the right posterior region; MRI brain anomalies; no cardiac anomalies; thin fingers; clinodactyly fifth finger bilaterally; dorsal scoliosis; dysphagia, chronic constipation; night awakening; ataxic gait" "" "" "" "" "" "RAMELN" "neurodevelopmental disorder" "0000367402" "05611" "00484618" "00006" "Isolated (sporadic)" "3y" "see paper; ..., severe developmental delay/intellectual disability; axial hypotonia; nonambulant, cannot stand; no speech; no behavioural anomalies; infantile spasms, then lennox-gastaut; EEG hypsarrhythmia; MRI brain anomalies; no cardiac anomalies; no visual anomalies; normal hands; normal feet; normal spine; poor feeding; no sleeping disorder" "" "" "" "" "" "RAMELN" "neurodevelopmental disorder" "0000367403" "05611" "00484619" "00006" "Isolated (sporadic)" "2y" "see paper; ..., mild-moderate developmental delay/intellectual disability; axial hypotonia; nonambulant; 1y7m-first words; no behavioural anomalies; no seizures; EEG normal; MRI brain anomalies; no cardiac anomalies; no visual anomalies; normal hands; normal feet; normal spine; percutaneous gastrostomy; no sleeping disorder" "" "" "" "" "" "RAMELN" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000486254" "00484598" "1" "00006" "00006" "2026-09-10 11:00:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000486264" "00484608" "1" "00006" "00006" "2026-09-10 15:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486265" "00484609" "1" "00006" "00006" "2026-09-10 15:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486266" "00484610" "1" "00006" "00006" "2026-09-10 15:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486267" "00484611" "1" "00006" "00006" "2026-09-10 15:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486268" "00484612" "1" "00006" "00006" "2026-09-10 15:14:15" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000486269" "00484613" "1" "00006" "00006" "2026-09-10 15:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486270" "00484614" "1" "00006" "00006" "2026-09-10 15:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486271" "00484615" "1" "00006" "00006" "2026-09-10 15:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486272" "00484616" "1" "00006" "00006" "2026-09-10 15:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486273" "00484617" "1" "00006" "00006" "2026-09-10 15:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486274" "00484618" "1" "00006" "00006" "2026-09-10 15:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486275" "00484619" "1" "00006" "00006" "2026-09-10 15:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 16 "{{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}}" "0001024754" "0" "50" "3" "185635511" "185635511" "subst" "0" "02325" "TRA2B_000001" "g.185635511G>A" "" "" "" "TRA2B(NM_004593.3):c.859C>T (p.R287C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051602" "0" "30" "3" "185641787" "185641788" "del" "0" "01804" "TRA2B_000002" "g.185641787_185641788del" "" "" "" "TRA2B(NM_004593.3):c.334-8_334-7del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064132" "0" "50" "3" "185639898" "185639898" "subst" "4.07395E-6" "02325" "TRA2B_000003" "g.185639898T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001089152" "0" "90" "3" "185644388" "185644388" "subst" "0" "00006" "TRA2B_000004" "g.185644388C>T" "" "{PMID:Shatokhina 2023:37958557}" "" "" "ACMG PVS1, PS2, PM2" "De novo" "" "" "0" "" "" "g.185926600C>T" "" "pathogenic (dominant)" "ACMG" "0001089183" "0" "70" "3" "185655630" "185655630" "subst" "0" "00006" "chr3_007592" "g.185655630G>A" "" "{PMID:Ramond 2023:36549593}" "" "" "" "De novo" "" "" "0" "" "" "g.185937842G>A" "" "likely pathogenic (dominant)" "" "0001089184" "0" "70" "3" "185644389" "185644389" "del" "0" "00006" "chr3_007593" "g.185644389del" "" "{PMID:Ramond 2023:36549593}" "" "" "" "De novo" "" "" "0" "" "" "g.185926601del" "" "likely pathogenic (dominant)" "" "0001089185" "0" "70" "3" "185644387" "185644387" "subst" "0" "00006" "chr3_007594" "g.185644387A>G" "" "{PMID:Ramond 2023:36549593}" "" "" "" "De novo" "" "" "0" "" "" "g.185926599A>G" "" "likely pathogenic (dominant)" "" "0001089186" "0" "70" "3" "185655647" "185655647" "subst" "0" "00006" "chr3_007595" "g.185655647A>C" "" "{PMID:Ramond 2023:36549593}" "" "" "" "De novo" "" "" "0" "" "" "g.185937859A>C" "" "likely pathogenic (dominant)" "" "0001089187" "0" "70" "3" "185655646" "185655648" "del" "0" "00006" "chr3_007596" "g.185655646_185655648del" "" "{PMID:Ramond 2023:36549593}" "" "" "" "De novo" "" "" "0" "" "" "g.185937858_185937860del" "" "likely pathogenic (dominant)" "" "0001089188" "0" "70" "3" "185655633" "185655633" "subst" "0" "00006" "chr3_007597" "g.185655633C>A" "" "{PMID:Ramond 2023:36549593}" "" "" "" "De novo" "" "" "0" "" "" "g.185937845C>A" "" "likely pathogenic (dominant)" "" "0001089189" "0" "70" "3" "185655648" "185655648" "subst" "0" "00006" "chr3_007598" "g.185655648T>C" "" "{PMID:Ramond 2023:36549593}" "" "" "" "De novo" "" "" "0" "" "" "g.185937860T>C" "" "likely pathogenic (dominant)" "" "0001089190" "11" "70" "3" "185643416" "185643416" "subst" "0" "00006" "chr3_007599" "g.185643416T>C" "" "{PMID:Ramond 2023:36549593}" "" "" "" "Germline" "" "" "0" "" "" "g.185925628T>C" "" "likely pathogenic (dominant)" "" "0001089191" "0" "70" "3" "185643416" "185643416" "subst" "0" "00006" "chr3_007599" "g.185643416T>C" "" "{PMID:Ramond 2023:36549593}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.185925628T>C" "" "likely pathogenic (dominant)" "" "0001089192" "0" "70" "3" "185655647" "185655647" "subst" "0" "00006" "chr3_007600" "g.185655647A>G" "" "{PMID:Ramond 2023:36549593}" "" "" "" "De novo" "" "" "0" "" "" "g.185937859A>G" "" "likely pathogenic (dominant)" "" "0001089193" "0" "70" "3" "185655648" "185655648" "subst" "0" "00006" "chr3_007601" "g.185655648T>A" "" "{PMID:Ramond 2023:36549593}" "" "" "" "De novo" "" "" "0" "" "" "g.185937860T>A" "" "likely pathogenic (dominant)" "" "0001089194" "0" "70" "3" "185655645" "185655667" "del" "0" "00006" "chr3_007602" "g.185655645_185655667del" "" "{PMID:Ramond 2023:36549593}" "" "" "" "De novo" "" "" "0" "" "" "g.185937857_185937879del" "" "likely pathogenic (dominant)" "" ## 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 TRA2B ## Count = 16 "{{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}}" "0001024754" "00021729" "50" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Cys)" "" "0001051602" "00021729" "30" "334" "-8" "334" "-7" "c.334-8_334-7del" "r.(=)" "p.(=)" "" "0001064132" "00021729" "50" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Asn180Ser)" "" "0001089152" "00021729" "90" "170" "1" "170" "1" "c.170+1G>A" "r.37_170del" "p.Glu13ValfsTer2" "2i" "0001089183" "00021729" "70" "19" "0" "19" "0" "c.19C>T" "r(?)" "p.(Gln7Ter)" "" "0001089184" "00021729" "70" "170" "1" "170" "1" "c.170+1del" "r.spl" "p.0" "" "0001089185" "00021729" "70" "170" "2" "170" "2" "c.170+2T>C" "r.spl" "p.0?" "" "0001089186" "00021729" "70" "2" "0" "2" "0" "c.2T>G" "r(?)" "p.0" "" "0001089187" "00021729" "70" "2" "0" "4" "0" "c.2_4del" "r.2_4del" "p.0" "" "0001089188" "00021729" "70" "16" "0" "16" "0" "c.16G>T" "r(?)" "p.(Glu6Ter)" "" "0001089189" "00021729" "70" "1" "0" "1" "0" "c.1A>G" "r(?)" "p.0?" "" "0001089190" "00021729" "70" "171" "-2" "171" "-2" "c.171-2A>G" "r.spl" "p.0?" "" "0001089191" "00021729" "70" "171" "-2" "171" "-2" "c.171-2A>G" "r.spl" "p.0?" "" "0001089192" "00021729" "70" "2" "0" "2" "0" "c.2T>C" "r(?)" "p.0?" "" "0001089193" "00021729" "70" "1" "0" "1" "0" "c.1A>T" "r(?)" "p.0?" "" "0001089194" "00021729" "70" "-11" "0" "12" "0" "c.-11_12del" "r(?)" "p.0?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000486254" "0001089152" "0000486264" "0001089183" "0000486265" "0001089184" "0000486266" "0001089185" "0000486267" "0001089186" "0000486268" "0001089187" "0000486269" "0001089188" "0000486270" "0001089189" "0000486271" "0001089190" "0000486272" "0001089191" "0000486273" "0001089192" "0000486274" "0001089193" "0000486275" "0001089194"