### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DRAM2) # 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}}" "DRAM2" "DNA-damage regulated autophagy modulator 2" "1" "p13.3" "unknown" "NC_000001.10" "UD_132456033600" "" "https://www.LOVD.nl/DRAM22" "" "1" "28769" "128338" "613360" "1" "1" "1" "1" "MANE select NM_001349884.2.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-17 15:42:40" "00006" "2024-05-30 14:19:34" ## 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}}" "00006689" "DRAM2" "DNA-damage regulated autophagy modulator 2" "001" "NM_178454.4" "" "NP_848549.3" "" "" "" "-257" "1629" "801" "111682838" "111659954" "" "0000-00-00 00:00:00" "" "" "00025769" "DRAM2" "transcript variant 4" "000" "NM_001349884.2" "" "NP_001336813.1" "" "" "" "-300" "1798" "801" "111682715" "111659785" "00006" "2022-12-17 15:41:50" "" "" ## 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}}" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "04452" "CORD21" "dystrophy, cone-rod, type 21 (CORD-21)" "AR" "616502" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DRAM2" "00058" "DRAM2" "04452" ## Individuals ## Do not remove or alter this header ## ## Count = 34 "{{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}}" "00289477" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331977" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat119" "00386259" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-235, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-605" "00391159" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "121" "00391160" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "122" "00395836" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F187" "00415609" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245}" "" "F" "" "" "" "0" "" "" "Eurpean" "Case 1325" "00415610" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245}" "" "F" "" "" "" "0" "" "" "Indian" "Family BL1" "00415611" "" "" "" "1" "" "00000" "{PMID:Sergouniotis_2015:26720460}" "" "F" "yes" "" "" "0" "" "" "" "PCI1" "00415612" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245}" "" "F" "" "" "" "0" "" "" "" "Family GC17004" "00415613" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245}" "" "M" "" "" "" "0" "" "" "" "Family GC4728" "00415614" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "IV:10 (ES1)" "00415615" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "IV:7 (ES1)" "00415616" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "IV:9 (ES1)" "00415617" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "IV:8 (ES1)" "00415618" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "IV:11 (ES1)" "00415619" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "IV:6 (ES1)" "00415620" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "III:4 (ES1)" "00415621" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "III:13 (ES1)" "00415622" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "III:5 (ES1)" "00415623" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "III:6 (ES1)" "00415624" "" "" "" "1" "" "00000" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "III:1 (ES1)" "00415625" "" "" "" "1" "" "00000" "{PMID:Abad-Morales_2019:31394102}" "" "" "yes" "" "" "0" "" "" "" "I-(Fi19/01)" "00415626" "" "" "" "1" "" "00000" "{PMID:Abad-Morales_2019:31394102}" "" "" "?" "" "" "0" "" "" "" "II-(Fi19/02)" "00415627" "" "" "" "1" "" "00000" "{PMID:Abad-Morales_2019:31394102}" "" "" "yes" "" "" "0" "" "" "" "III-(Fi19/03)" "00415628" "" "" "" "1" "" "00000" "{PMID:Kuniyoshi 2020:32079136}" "" "F" "yes" "" "" "0" "" "" "Japanese" "1" "00415629" "" "" "" "1" "" "00000" "{PMID:Kuniyoshi 2020:32079136}" "" "M" "" "" "" "0" "" "" "Japanese" "2" "00415630" "" "" "" "1" "" "00000" "{PMID:Kuniyoshi 2020:32079136}" "" "F" "yes" "" "" "0" "" "" "Japanese" "3" "00420503" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F187" "00447605" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1129" "00447615" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1239" "00450835" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "066780" "00450836" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072746" "00450837" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "079506" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 34 "{{individualid}}" "{{diseaseid}}" "00289477" "00198" "00331977" "04214" "00386259" "04214" "00391159" "04214" "00391160" "04214" "00395836" "04214" "00415609" "04214" "00415610" "04214" "00415611" "04214" "00415612" "04214" "00415613" "04214" "00415614" "04214" "00415615" "04214" "00415616" "04214" "00415617" "04214" "00415618" "04214" "00415619" "04214" "00415620" "04214" "00415621" "04214" "00415622" "04214" "00415623" "04214" "00415624" "04214" "00415625" "04214" "00415626" "04214" "00415627" "04214" "00415628" "04214" "00415629" "04214" "00415630" "04214" "00420503" "04214" "00447605" "00198" "00447615" "00198" "00450835" "04249" "00450836" "04249" "00450837" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00058, 00198, 04214, 04249, 04452 ## Count = 33 "{{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}}" "0000250168" "04214" "00331977" "00000" "Familial, autosomal dominant" "53y" "night vision problems; scotopic ERG normalreduced; photopic ERG borderline" "27y" "" "night vision problems" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000280062" "04214" "00386259" "00000" "Familial, autosomal recessive" "31y" "" "" "6y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000284601" "04214" "00391159" "00000" "Unknown" "42y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284602" "04214" "00391160" "00000" "Unknown" "53y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000288998" "04214" "00395836" "00000" "Unknown" "33y4m" "" "33y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000307389" "04214" "00415609" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307390" "04214" "00415610" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307391" "04214" "00415611" "00000" "Familial, autosomal dominant" "" "VA(R/L): 0.6/0.4; photophobia" "35y" "" "Central visual loss" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307392" "04214" "00415612" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307393" "04214" "00415613" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307394" "04214" "00415614" "00000" "Familial, autosomal dominant" "" "VA(R/L): 0.0/0.0" "19y" "" "Asymptomatic" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307395" "04214" "00415615" "00000" "Familial, autosomal dominant" "" "VA(R/L): 0.2/0.2" "22y" "" "Central visual loss" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307396" "04214" "00415616" "00000" "Familial, autosomal dominant" "" "VA(R/L): 1.0/1.0; photophobia" "22y" "" "Central visual loss" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307397" "04214" "00415617" "00000" "Familial, autosomal dominant" "" "VA(R/L): 0.8/0.8" "21y" "" "Central visual loss" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307398" "04214" "00415618" "00000" "Familial, autosomal dominant" "" "VA(R/L): 1.0/1.0" "27y" "" "Central visual loss" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307399" "04214" "00415619" "00000" "Familial, autosomal dominant" "" "VA(R/L): 0.8/0.8; photophobia" "26y" "" "Central visual loss" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307400" "04214" "00415620" "00000" "Familial, autosomal dominant" "" "VA(R/L): 2.0/2.0; photophobia" "23y" "" "Central visual loss" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307401" "04214" "00415621" "00000" "Familial, autosomal dominant" "" "VA(R/L): 2.0/2.0; photophobia; night vision problems" "25y" "" "Central visual loss" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307402" "04214" "00415622" "00000" "Familial, autosomal dominant" "" "VA(R/L): 1.0/2.0" "28y" "" "Central visual loss" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307403" "04214" "00415623" "00000" "Familial, autosomal dominant" "" "VA(R/L): 1.3/1.3" "25y" "" "Central visual loss" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307404" "04214" "00415624" "00000" "Familial, autosomal dominant" "" "VA(R/L): 2.3/2.3" "16y" "" "Central visual loss" "" "" "" "" "" "" "Retinal dystrophy with early macular involvement" "" "0000307405" "04214" "00415625" "00000" "Familial, autosomal recessive" "52y" "BCVA: 20/400-(OU)" "45y" "" "" "" "" "" "" "" "" "Cone-rod dystrophies (CRD)" "" "0000307406" "04214" "00415626" "00000" "Familial, autosomal recessive" "37y" "BCVA: 20/200-(OU)" "27y" "" "" "" "" "" "" "" "" "Cone-rod dystrophies (CRD)" "" "0000307407" "04214" "00415627" "00000" "Familial, autosomal recessive" "57y" "BCVA: 20/400-(OD),20/200-(OS)" "29y" "" "" "" "" "" "" "" "" "Cone-rod dystrophies (CRD)" "" "0000307408" "04214" "00415628" "00000" "Familial, autosomal recessive" "43y" "VA: 0.2(R)/0.3(L); Phakia; refractive error: S-1.0D/S-0.75D" "" "" "" "" "" "" "" "" "" "inherited retinal dystrophy" "" "0000307409" "04214" "00415629" "00000" "Familial, autosomal recessive" "71y" "VA: hand motions; refractive error:S-4.0D=C-1.25; IOL implantation at age 55 in both eyes" "" "" "" "" "" "" "" "" "" "inherited retinal dystrophy" "" "0000307410" "04214" "00415630" "00000" "Familial, autosomal recessive" "71y" "VA: hand motions; refractive error: S+0.5D=C-0.25D/S+0.25D; Nuclear cataract in both eyes" "" "" "" "" "" "" "" "" "" "inherited retinal dystrophy" "" "0000311751" "04214" "00420503" "00000" "Familial, autosomal recessive" "33y4m" "" "33y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000336804" "00198" "00447605" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336814" "00198" "00447615" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000339890" "04249" "00450835" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339891" "04249" "00450836" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339892" "04249" "00450837" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (AR)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000290645" "00289477" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000333196" "00331977" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000387488" "00386259" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000392401" "00391159" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392402" "00391160" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000397075" "00395836" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000421812" "00420503" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000429325" "00415609" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429326" "00415610" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429327" "00415611" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "exome sequencing" "0000429328" "00415612" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429329" "00415613" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429330" "00415614" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429331" "00415615" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429332" "00415616" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429333" "00415617" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429334" "00415618" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429335" "00415619" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429336" "00415620" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429337" "00415621" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429338" "00415622" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429339" "00415623" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429340" "00415624" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429341" "00415625" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000429342" "00415626" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000429343" "00415627" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000429344" "00415628" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429345" "00415629" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000429346" "00415630" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000449182" "00447605" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449192" "00447615" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452433" "00450835" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452434" "00450836" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452435" "00450837" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000333196" "DRAM2" "0000387488" "RPE65" "0000392401" "DRAM2" "0000392402" "DRAM2" "0000397075" "DRAM2" "0000421812" "DRAM2" "0000429325" "DRAM2" "0000429326" "DRAM2" "0000429327" "DRAM2" "0000429328" "DRAM2" "0000429329" "DRAM2" "0000429330" "DRAM2" "0000429331" "DRAM2" "0000429332" "DRAM2" "0000429333" "DRAM2" "0000429334" "DRAM2" "0000429335" "DRAM2" "0000429336" "DRAM2" "0000429337" "DRAM2" "0000429338" "DRAM2" "0000429339" "DRAM2" "0000429340" "DRAM2" "0000429341" "DRAM2" "0000429342" "DRAM2" "0000429343" "DRAM2" "0000429344" "DRAM2" "0000429345" "DRAM2" "0000429346" "DRAM2" ## 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 = 50 "{{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}}" "0000245490" "0" "10" "1" "111661412" "111661412" "subst" "0.000444322" "02330" "DRAM2_000002" "g.111661412A>G" "" "" "" "DRAM2(NM_178454.6):c.693+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111118790A>G" "" "benign" "" "0000245593" "0" "50" "1" "111660846" "111660846" "subst" "0.000341972" "02330" "DRAM2_000001" "g.111660846A>G" "" "" "" "DRAM2(NM_178454.6):c.737T>C (p.L246P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111118224A>G" "" "VUS" "" "0000345780" "0" "50" "1" "111663156" "111663156" "subst" "4.15014E-6" "02327" "DRAM2_000004" "g.111663156C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111120534C>T" "" "VUS" "" "0000347024" "0" "50" "1" "111660846" "111660846" "subst" "0.000341972" "02327" "DRAM2_000001" "g.111660846A>G" "" "" "" "DRAM2(NM_178454.6):c.737T>C (p.L246P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111118224A>G" "" "VUS" "" "0000350342" "0" "50" "1" "111674130" "111674130" "subst" "4.06151E-6" "02327" "DRAM2_000005" "g.111674130A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111131508A>G" "" "VUS" "" "0000502446" "0" "10" "1" "111661413" "111661413" "subst" "0.404621" "02327" "CEPT1_000001" "g.111661413T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111118791T>C" "" "benign" "" "0000502447" "0" "50" "1" "111663218" "111663218" "subst" "0" "01943" "CEPT1_000002" "g.111663218A>C" "" "" "" "DRAM2(NM_178454.5):c.437T>G (p.M146R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111120596A>C" "" "VUS" "" "0000647334" "1" "90" "1" "111668909" "111668909" "del" "0" "03575" "DRAM2_000006" "g.111668909del" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs746559651}" "Germline" "" "rs746559651" "0" "" "" "g.111126287del" "" "pathogenic" "" "0000730620" "1" "90" "1" "111131508" "111131508" "subst" "0" "00000" "DRAM2_000005" "g.111131508A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000730843" "2" "90" "1" "111667419" "111667419" "subst" "2.84699E-5" "00006" "DRAM2_000007" "g.111667419C>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000798660" "0" "50" "1" "111667381" "111667381" "subst" "5.69268E-5" "01943" "CEPT1_000003" "g.111667381T>C" "" "" "" "DRAM2(NM_001349881.1):c.322A>G (p.I108V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000815519" "0" "50" "1" "111663308" "111663308" "subst" "0" "00000" "DRAM2_000008" "g.111663308G>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "DRAM2:NM_178454 c.C347A, p.T116N" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.111120686G>T" "" "VUS" "ACMG" "0000822692" "3" "70" "1" "111668879" "111668879" "subst" "0" "00000" "DRAM2_000009" "g.111668879C>G" "" "{PMID:Gliem 2020:32646556}" "" "DRAM2 c.169G>C, p.Gly57Arg" "homozygous" "Unknown" "?" "" "0" "" "" "g.111126257C>G" "" "likely pathogenic" "" "0000822693" "0" "70" "1" "111674130" "111674130" "subst" "4.06151E-6" "00000" "DRAM2_000005" "g.111674130A>G" "" "{PMID:Gliem 2020:32646556}" "" "DRAM2 c.47T>C c.284G>T, p.Val16Ala p.Gly95Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.111131508A>G" "" "likely pathogenic" "" "0000822750" "0" "70" "1" "111667419" "111667419" "subst" "2.84699E-5" "00000" "DRAM2_000007" "g.111667419C>A" "" "{PMID:Gliem 2020:32646556}" "" "DRAM2 c.47T>C c.284G>T, p.Val16Ala p.Gly95Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.111124797C>A" "" "likely pathogenic" "" "0000828821" "0" "50" "1" "111661437" "111661437" "subst" "1.25156E-5" "00000" "DRAM2_000011" "g.111661437C>T" "" "{PMID:Chen 2021:43360855}" "" "DRAM2 c.683G>A(;)744del, V1: c.683G>A, (p.Arg228His)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.111118815C>T" "" "VUS" "ACMG" "0000829026" "0" "70" "1" "111660839" "111660839" "del" "0" "00000" "DRAM2_000010" "g.111660839del" "" "{PMID:Chen 2021:43360855}" "" "DRAM2 c.683G>A(;)744del, V2: c.744delC, (p.Asp248GlufsTer47)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.111118217del" "" "likely pathogenic" "ACMG" "0000848228" "0" "30" "1" "111674153" "111674153" "subst" "0" "02330" "CEPT1_000004" "g.111674153G>A" "" "" "" "DRAM2(NM_001349881.2):c.24C>T (p.L8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896616" "0" "50" "1" "111661437" "111661437" "subst" "1.25156E-5" "00000" "DRAM2_000011" "g.111661437C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000112; GnomAD_All: 0.0000123" "{PMID:Chen 2021:33608557}" "" "DRAM2 c.683G>A(;)744del; p.(Arg228His)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.111118815C>T" "" "VUS" "" "0000896617" "0" "70" "1" "111660839" "111660839" "del" "0" "00000" "DRAM2_000010" "g.111660839del" "Taiwan Biobank: 0.000659; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "DRAM2 c.683G>A(;)744del; p.(Asp248GlufsTer47)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.111118217del" "" "likely pathogenic" "" "0000908782" "1" "90" "1" "111674046" "111674046" "subst" "0" "00000" "DRAM2_000020" "g.111674046C>T" "" "{PMID:El-Asrag_2015:25983245}" "" "c.131G>A" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000908783" "2" "90" "1" "111663161" "111663161" "subst" "3.29965E-5" "00000" "DRAM2_000016" "g.111663161C>T" "" "{PMID:El-Asrag_2015:25983245}" "" "c.494G>A" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000908784" "3" "90" "1" "111674111" "111674113" "del" "0" "00000" "DRAM2_000022" "g.111674111_111674113del" "" "{PMID:El-Asrag_2015:25983245}" "" "c.64_66delGCT" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908785" "3" "90" "1" "111668879" "111668879" "subst" "0" "00000" "DRAM2_000009" "g.111668879C>G" "" "{PMID:Sergouniotis_2015:26720460}" "" "c.169G>C, p.(Gly57Arg)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908786" "11" "90" "1" "111674098" "111674098" "subst" "0" "00000" "DRAM2_000021" "g.111674098A>G" "" "{PMID:El-Asrag_2015:25983245}" "" "c.79T>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908787" "21" "90" "1" "111667478" "111667486" "del" "0" "00000" "DRAM2_000018" "g.111667478_111667486del" "" "{PMID:El-Asrag_2015:25983245}" "" "c.217_225delGTTCGTTAT" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908788" "3" "90" "1" "111663293" "111663293" "subst" "0" "00000" "DRAM2_000017" "g.111663293T>A" "" "{PMID:El-Asrag_2015:25983245}" "" "c.362A>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908789" "3" "90" "1" "111668908" "111668908" "del" "1.2214E-5" "00000" "DRAM2_000006" "g.111668908del" "" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "p.[(Gly47Valfs*3)];[(Gly47Valfs*3)]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908790" "3" "90" "1" "111668908" "111668908" "del" "1.2214E-5" "00000" "DRAM2_000006" "g.111668908del" "" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "p.[(Gly47Valfs*3)];[(Gly47Valfs*3)]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908791" "3" "90" "1" "111668908" "111668908" "del" "1.2214E-5" "00000" "DRAM2_000006" "g.111668908del" "" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "p.[(Gly47Valfs*3)];[(Gly47Valfs*3)]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908792" "3" "90" "1" "111668908" "111668908" "del" "1.2214E-5" "00000" "DRAM2_000006" "g.111668908del" "" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "p.[(Gly47Valfs*3)];[(Gly47Valfs*3)]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908793" "3" "90" "1" "111668908" "111668908" "del" "1.2214E-5" "00000" "DRAM2_000006" "g.111668908del" "" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "p.[(Gly47Valfs*3)];[(Gly47Valfs*3)]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908794" "3" "90" "1" "111668908" "111668908" "del" "1.2214E-5" "00000" "DRAM2_000006" "g.111668908del" "" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "p.[(Gly47Valfs*3)];[(Gly47Valfs*3)]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908795" "3" "90" "1" "111668908" "111668908" "del" "1.2214E-5" "00000" "DRAM2_000006" "g.111668908del" "" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "p.[(Gly47Valfs*3)];[(Gly47Valfs*3)]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908796" "3" "90" "1" "111668908" "111668908" "del" "1.2214E-5" "00000" "DRAM2_000006" "g.111668908del" "" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "p.[(Gly47Valfs*3)];[(Gly47Valfs*3)]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908797" "3" "90" "1" "111668908" "111668908" "del" "1.2214E-5" "00000" "DRAM2_000006" "g.111668908del" "" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "p.[(Gly47Valfs*3)];[(Gly47Valfs*3)]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908798" "3" "90" "1" "111668908" "111668908" "del" "1.2214E-5" "00000" "DRAM2_000006" "g.111668908del" "" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "p.[(Gly47Valfs*3)];[(Gly47Valfs*3)]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908799" "3" "90" "1" "111668908" "111668908" "del" "1.2214E-5" "00000" "DRAM2_000006" "g.111668908del" "" "{PMID:El-Asrag_2015:25983245};{PMID:Sergouniotis_2015:26720460}" "" "p.[(Gly47Valfs*3)];[(Gly47Valfs*3)]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908800" "3" "90" "1" "111661491" "111661492" "ins" "0" "00000" "DRAM2_000014" "g.111661491_111661492insCT" "" "{PMID:Abad-Morales_2019:31394102}" "" "c.628_629insAG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908801" "3" "90" "1" "111662582" "111662582" "subst" "4.08313E-6" "00000" "DRAM2_000015" "g.111662582C>T" "" "{PMID:Abad-Morales_2019:31394102}" "" "c.518-1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908802" "3" "90" "1" "111661425" "111661425" "subst" "0" "00000" "DRAM2_000013" "g.111661425A>T" "" "{PMID:Abad-Morales_2019:31394102}" "" "c.693+2T>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000908803" "3" "90" "1" "111660874" "111660876" "dup" "0" "00000" "DRAM2_000012" "g.111660874_111660876dup" "" "{PMID:Kuniyoshi 2020:32079136}" "" "c.707_709dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000908804" "3" "90" "1" "111667482" "111667482" "subst" "8.16453E-6" "00000" "DRAM2_000019" "g.111667482C>T" "" "{PMID:Kuniyoshi 2020:32079136}" "" "c.221G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000908805" "3" "90" "1" "111674167" "111674169" "del" "0.000101709" "00000" "DRAM2_000023" "g.111674167_111674169del" "" "{PMID:Kuniyoshi 2020:32079136}" "" "c.8_10delGGT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000958949" "3" "50" "1" "111668846" "111668846" "subst" "0" "00006" "DRAM2_000024" "g.111668846T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2" "Germline" "" "" "0" "" "" "g.111126224T>A" "" "VUS" "ACMG" "0000959401" "0" "70" "1" "111674079" "111674080" "del" "0" "00006" "DRAM2_000025" "g.111674079_111674080del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.111131457_111131458del" "" "likely pathogenic (recessive)" "ACMG" "0000986416" "3" "50" "1" "111668879" "111668879" "subst" "0" "04405" "DRAM2_000009" "g.111668879C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.111126257C>G" "" "VUS" "ACMG" "0000986417" "3" "90" "1" "111668909" "111668909" "del" "0" "04405" "DRAM2_000006" "g.111668909del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.111126287del" "" "pathogenic" "ACMG" "0000986418" "1" "50" "1" "111674174" "111674174" "subst" "4.07402E-6" "04405" "DRAM2_000026" "g.111674174C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.111131552C>T" "" "VUS" "ACMG" "0000986923" "2" "50" "1" "111660846" "111660846" "subst" "0.000341972" "04405" "DRAM2_000001" "g.111660846A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.111118224A>G" "" "VUS" "ACMG" ## 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 DRAM2 ## Count = 51 "{{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}}" "0000245490" "00006689" "10" "693" "15" "693" "15" "c.693+15T>C" "r.(=)" "p.(=)" "" "0000245593" "00006689" "50" "737" "0" "737" "0" "c.737T>C" "r.(?)" "p.(Leu246Pro)" "" "0000345780" "00006689" "50" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Arg)" "" "0000347024" "00006689" "50" "737" "0" "737" "0" "c.737T>C" "r.(?)" "p.(Leu246Pro)" "" "0000350342" "00006689" "50" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Val16Ala)" "" "0000502446" "00006689" "10" "693" "14" "693" "14" "c.693+14A>G" "r.(=)" "p.(=)" "" "0000502447" "00006689" "50" "437" "0" "437" "0" "c.437T>G" "r.(?)" "p.(Met146Arg)" "" "0000647334" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47Valfs*3)" "" "0000730620" "00006689" "90" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Val16Ala)" "3" "0000730843" "00006689" "90" "284" "0" "284" "0" "c.284G>T" "r.(?)" "p.(Gly95Val)" "5" "0000798660" "00006689" "50" "322" "0" "322" "0" "c.322A>G" "r.(?)" "p.(Ile108Val)" "" "0000815519" "00006689" "50" "347" "0" "347" "0" "c.347C>A" "r.(?)" "p.(Thr116Asn)" "" "0000822692" "00006689" "70" "169" "0" "169" "0" "c.169G>C" "r.(?)" "p.(Gly57Arg)" "2" "0000822693" "00006689" "70" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Val16Ala)" "3" "0000822750" "00006689" "70" "284" "0" "284" "0" "c.284G>T" "r.(?)" "p.(Gly95Val)" "5" "0000828821" "00006689" "50" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "" "0000829026" "00006689" "70" "744" "0" "744" "0" "c.744del" "r.(?)" "p.(Asp248Glufs*47)" "" "0000848228" "00006689" "30" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Leu8=)" "" "0000848228" "00025769" "30" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Leu8=)" "" "0000896616" "00006689" "50" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "" "0000896617" "00006689" "70" "744" "0" "744" "0" "c.744delC" "r.(?)" "p.(Asp248GlufsTer47)" "" "0000908782" "00006689" "90" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Ser44Asn)" "3" "0000908783" "00006689" "90" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Trp165*)" "6" "0000908784" "00006689" "90" "64" "0" "66" "0" "c.64_66del" "r.(?)" "p.(Ala22del)" "3" "0000908785" "00006689" "90" "169" "0" "169" "0" "c.169G>C" "r.(?)" "p.(Gly57Arg)" "4" "0000908786" "00006689" "90" "79" "0" "79" "0" "c.79T>C" "r.(?)" "p.(Tyr27His)" "3" "0000908787" "00006689" "90" "217" "0" "225" "0" "c.217_225del" "r.(?)" "p.(Val73_Tyr75del)" "5" "0000908788" "00006689" "90" "362" "0" "362" "0" "c.362A>T" "r.(?)" "p.(His121Leu)" "6" "0000908789" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47Valfs*3)" "4" "0000908790" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47Valfs*3)" "4" "0000908791" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47Valfs*3)" "4" "0000908792" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47Valfs*3)" "4" "0000908793" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47Valfs*3)" "4" "0000908794" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47Valfs*3)" "4" "0000908795" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47Valfs*3)" "4" "0000908796" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47Valfs*3)" "4" "0000908797" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47Valfs*3)" "4" "0000908798" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47Valfs*3)" "4" "0000908799" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47Valfs*3)" "4" "0000908800" "00006689" "90" "628" "0" "629" "0" "c.628_629insAG" "r.(?)" "p.(Ala210Glufs*16)" "8" "0000908801" "00006689" "90" "518" "-1" "518" "-1" "c.518-1G>A" "r.spl?" "p.?" "6i" "0000908802" "00006689" "90" "693" "2" "693" "2" "c.693+2T>A" "r.spl?" "p.?" "8i" "0000908803" "00006689" "90" "707" "0" "709" "0" "c.707_709dup" "r.(?)" "p.(Arg236_Val237insGly)" "9" "0000908804" "00006689" "90" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Arg74His)" "5" "0000908805" "00006689" "90" "8" "0" "10" "0" "c.8_10del" "r.(?)" "p.(Trp3del)" "3" "0000958949" "00006689" "50" "199" "3" "199" "3" "c.199+3A>T" "r.spl?" "p.?" "" "0000959401" "00006689" "70" "98" "0" "99" "0" "c.98_99del" "r.(?)" "p.(Leu33ProfsTer12)" "" "0000986416" "00006689" "50" "169" "0" "169" "0" "c.169G>C" "r.(?)" "p.(Gly57Arg)" "5" "0000986417" "00006689" "90" "140" "0" "140" "0" "c.140del" "r.(?)" "p.(Gly47ValfsTer3)" "5" "0000986418" "00006689" "50" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "4" "0000986923" "00006689" "50" "737" "0" "737" "0" "c.737T>C" "r.(?)" "p.(Leu246Pro)" "10" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{variantid}}" "0000290645" "0000647334" "0000333196" "0000730620" "0000333196" "0000730843" "0000387488" "0000815519" "0000392401" "0000822692" "0000392402" "0000822693" "0000392402" "0000822750" "0000397075" "0000828821" "0000397075" "0000829026" "0000421812" "0000896616" "0000421812" "0000896617" "0000429325" "0000908782" "0000429325" "0000908783" "0000429326" "0000908784" "0000429327" "0000908785" "0000429328" "0000908786" "0000429328" "0000908787" "0000429329" "0000908788" "0000429330" "0000908789" "0000429331" "0000908790" "0000429332" "0000908791" "0000429333" "0000908792" "0000429334" "0000908793" "0000429335" "0000908794" "0000429336" "0000908795" "0000429337" "0000908796" "0000429338" "0000908797" "0000429339" "0000908798" "0000429340" "0000908799" "0000429341" "0000908800" "0000429342" "0000908801" "0000429343" "0000908802" "0000429344" "0000908803" "0000429345" "0000908804" "0000429346" "0000908805" "0000449182" "0000958949" "0000449192" "0000959401" "0000452433" "0000986416" "0000452434" "0000986417" "0000452435" "0000986418" "0000452435" "0000986923"