### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARR3) # 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}}" "ARR3" "arrestin 3, retinal (X-arrestin)" "X" "q" "unknown" "NG_050734.1" "UD_132318993521" "" "https://www.LOVD.nl/ARR3" "" "1" "710" "407" "301770" "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/ARR3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-04-24 12:36:13" "00000" "2023-01-11 15:44:22" ## 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}}" "00000364" "ARR3" "arrestin 3, retinal (X-arrestin)" "001" "NM_004312.2" "" "NP_004303.2" "" "" "" "-68" "1241" "1167" "69488185" "69501690" "00000" "2012-09-13 12:10:04" "" "" ## 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}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05323" "MYP" "myopia (MYP)" "" "" "" "" "" "00006" "2017-09-01 15:07:55" "" "" "05731" "MYP26" "myopia, type 26, X-linked, female-limited (MYP26)" "XL" "301010" "" "" "" "00006" "2020-04-24 12:27:56" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ARR3" "05323" "ARR3" "05731" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00296617" "" "" "" "1" "" "03649" "" "" "" "" "" "" "0" "" "" "" "" "00300233" "" "" "" "19" "" "00006" "{PMID:Xiao 2016:27829781}" "6-generation family, 19 affected (19F)" "F" "" "China" "" "0" "" "" "" "FamXF1" "00300234" "" "" "" "11" "" "00006" "{PMID:Xiao 2016:27829781}" "4-generation family, 11 affected (11F)" "F" "" "China" "" "0" "" "" "" "FamXF2" "00300235" "" "" "" "6" "" "00006" "{PMID:Xiao 2016:27829781}" "5-generation family, 6 affected (6F)" "F" "" "China" "" "0" "" "" "" "FamXF3" "00300237" "" "" "" "1" "" "00006" "{PMID:Liu 2020:32215939}" "" "M" "" "China" "" "0" "" "" "" "HM241" "00300238" "" "" "" "1" "" "00006" "{PMID:Liu 2020:32215939}" "" "M" "" "China" "" "0" "" "" "" "HM750" "00300245" "" "" "" "1" "" "00006" "{PMID:Liu 2020:32215939}" "" "M" "" "Spain" "" "0" "" "" "" "HM305" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00296617" "05323" "00300233" "05323" "00300234" "05323" "00300235" "05323" "00300237" "05323" "00300238" "05323" "00300245" "05323" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 05323, 05731 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000224024" "05323" "00296617" "03649" "Familial, X-linked dominant, male sparing" "" "high myopia, X-linked" "" "" "" "" "" "" "" "MYP26" "" "0000227535" "05323" "00300233" "00006" "Familial, X-linked" "" "onset high myopia; early childhood nearsightedness, typical tigroid fundus changes, refractive errors; ,7y-axial length >26.00 mm or spherical refraction in each meridian equal >−6.00 diopter in both eyes no other known ocular or related systemic diseases" "" "" "" "" "" "" "" "MYP26" "myopia" "0000227536" "05323" "00300234" "00006" "Familial, X-linked" "" "onset high myopia; early childhood nearsightedness, typical tigroid fundus changes, refractive errors; ,7y-axial length >26.00 mm or spherical refraction in each meridian equal >−6.00 diopter in both eyes no other known ocular or related systemic diseases" "" "" "" "" "" "" "" "MYP26" "myopia" "0000227537" "05323" "00300235" "00006" "Familial, X-linked" "" "onset high myopia; early childhood nearsightedness, typical tigroid fundus changes, refractive errors; ,7y-axial length >26.00 mm or spherical refraction in each meridian equal >−6.00 diopter in both eyes no other known ocular or related systemic diseases" "" "" "" "" "" "" "" "MYP26" "myopia" "0000227539" "05323" "00300237" "00006" "Familial, X-linked" "8y6m" "refraction spherical equivalent OD –9.25, OS –11.25" "2y" "" "" "" "" "" "" "MYP26" "myopia" "0000227540" "05323" "00300238" "00006" "Familial, X-linked" "13y" "onset early childhood, early onset high myopia, recently complicated retinal detachment right eye; refraction spherical equivalent OS –16.00" "" "" "" "" "" "" "" "MYP26" "myopia" "0000227547" "05323" "00300245" "00006" "Familial, X-linked" "59y" "onset early childhood; refraction spherical equivalent OD –13.00, OS –13.00" "" "" "" "" "" "" "" "" "myopia" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000297727" "00296617" "1" "03649" "03649" "2020-04-08 17:53:38" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000301350" "00300233" "1" "00006" "00006" "2020-04-24 14:12:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301351" "00300234" "1" "00006" "00006" "2020-04-24 14:12:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301352" "00300235" "1" "00006" "00006" "2020-04-24 14:12:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301354" "00300237" "1" "00006" "00006" "2020-04-24 14:46:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301355" "00300238" "1" "00006" "00006" "2020-04-24 14:46:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301362" "00300245" "1" "00006" "00006" "2020-04-24 14:46:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000297727" "ARR3" "0000301350" "ARR3" "0000301351" "ARR3" "0000301352" "ARR3" "0000301354" "ARR3" "0000301355" "ARR3" "0000301362" "ARR3" ## 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 = 45 "{{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}}" "0000001992" "0" "50" "X" "69500863" "69500863" "dup" "0" "00037" "ARR3_000003" "g.69500863dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70281013dup" "" "VUS" "" "0000003028" "0" "50" "X" "69500863" "69500863" "dup" "0" "00037" "ARR3_000015" "g.69500863dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70281013dup" "" "VUS" "" "0000007064" "20" "50" "X" "69495817" "69495817" "subst" "0" "00037" "ARR3_000009" "g.69495817G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70275967G>A" "" "VUS" "" "0000007065" "20" "50" "X" "69496228" "69496228" "subst" "0" "00037" "ARR3_000012" "g.69496228T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70276378T>C" "" "VUS" "" "0000007066" "20" "50" "X" "69498482" "69498482" "subst" "0.00644257" "00037" "ARR3_000004" "g.69498482C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70278632C>G" "" "VUS" "" "0000007067" "20" "50" "X" "69498696" "69498696" "subst" "0" "00037" "ARR3_000001" "g.69498696C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70278846C>T" "" "VUS" "" "0000009153" "0" "50" "X" "69495778" "69495778" "subst" "0" "00037" "ARR3_000008" "g.69495778C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70275928C>A" "" "VUS" "" "0000009154" "20" "50" "X" "69495817" "69495817" "subst" "0" "00037" "ARR3_000009" "g.69495817G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70275967G>A" "" "VUS" "" "0000009155" "20" "50" "X" "69496228" "69496228" "subst" "0" "00037" "ARR3_000012" "g.69496228T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70276378T>C" "" "VUS" "" "0000009156" "20" "50" "X" "69498482" "69498482" "subst" "0.00644257" "00037" "ARR3_000004" "g.69498482C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70278632C>G" "" "VUS" "" "0000009157" "20" "50" "X" "69498696" "69498696" "subst" "0" "00037" "ARR3_000001" "g.69498696C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70278846C>T" "" "VUS" "" "0000262982" "0" "30" "X" "69498455" "69498455" "subst" "0.000157037" "01943" "ARR3_000018" "g.69498455T>C" "" "" "" "ARR3(NM_004312.2):c.869T>C (p.L290P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70278605T>C" "" "likely benign" "" "0000306704" "0" "50" "X" "69502413" "69502413" "subst" "0.0000615567" "01943" "RAB41_000010" "g.69502413T>C" "" "" "" "RAB41(NM_001032726.2):c.152T>C (p.M51T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70282563T>C" "" "VUS" "" "0000306705" "0" "10" "X" "69503221" "69503221" "subst" "0.0000673544" "01943" "RAB41_000014" "g.69503221C>T" "" "" "" "RAB41(NM_001032726.2):c.338C>T (p.T113I, p.(Thr113Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70283371C>T" "" "benign" "" "0000334515" "0" "30" "X" "69496583" "69496583" "subst" "0.0000112788" "01804" "ARR3_000016" "g.69496583A>G" "" "" "" "ARR3(NM_004312.2):c.470A>G (p.(Lys157Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70276733A>G" "" "likely benign" "" "0000334516" "0" "50" "X" "69497970" "69497970" "subst" "0" "01804" "ARR3_000017" "g.69497970T>C" "" "" "" "ARR3(NM_004312.2):c.749T>C (p.(Val250Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70278120T>C" "" "VUS" "" "0000334517" "0" "50" "X" "69500654" "69500654" "subst" "0.000419766" "01804" "ARR3_000019" "g.69500654C>T" "" "" "" "ARR3(NM_004312.2):c.1052C>T (p.P351L, p.(Pro351Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70280804C>T" "" "VUS" "" "0000334520" "0" "50" "X" "69502198" "69502198" "subst" "0.0001177" "01804" "RAB41_000009" "g.69502198G>A" "" "" "" "RAB41(NM_001032726.2):c.124+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70282348G>A" "" "VUS" "" "0000334521" "0" "50" "X" "69502681" "69502681" "subst" "0.0000167796" "01804" "RAB41_000011" "g.69502681G>T" "" "" "" "RAB41(NM_001032726.2):c.210G>T (p.(Lys70Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70282831G>T" "" "VUS" "" "0000334523" "0" "50" "X" "69503181" "69503181" "subst" "0.000055966" "01804" "RAB41_000013" "g.69503181A>T" "" "" "" "RAB41(NM_001032726.2):c.298A>T (p.(Ile100Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70283331A>T" "" "VUS" "" "0000334524" "0" "50" "X" "69503221" "69503221" "subst" "0.0000673544" "01804" "RAB41_000014" "g.69503221C>T" "" "" "" "RAB41(NM_001032726.2):c.338C>T (p.T113I, p.(Thr113Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70283371C>T" "" "VUS" "" "0000334525" "0" "50" "X" "69504449" "69504449" "subst" "0.000089523" "01804" "RAB41_000016" "g.69504449G>A" "" "" "" "RAB41(NM_001032726.2):c.622G>A (p.(Glu208Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70284599G>A" "" "VUS" "" "0000577128" "0" "10" "X" "69489530" "69489530" "subst" "0.111405" "01943" "ARR3_000021" "g.69489530C>T" "" "" "" "ARR3(NM_004312.2):c.27C>T (p.S9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70269680C>T" "" "benign" "" "0000577129" "0" "90" "X" "69496000" "69496000" "subst" "0" "01943" "ARR3_000022" "g.69496000C>T" "" "" "" "ARR3(NM_004312.2):c.214C>T (p.R72*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70276150C>T" "" "pathogenic" "" "0000577131" "0" "30" "X" "69497347" "69497347" "subst" "0.000255683" "01943" "ARR3_000024" "g.69497347C>T" "" "" "" "ARR3(NM_004312.2):c.577C>T (p.P193S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70277497C>T" "" "likely benign" "" "0000577133" "0" "90" "X" "69497989" "69497989" "subst" "0" "01943" "ARR3_000025" "g.69497989G>A" "" "" "" "ARR3(NM_004312.2):c.767+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70278139G>A" "" "pathogenic" "" "0000577134" "0" "50" "X" "69503407" "69503407" "subst" "0" "01943" "ARR3_000026" "g.69503407C>T" "" "" "" "RAB41(NM_001032726.2):c.385C>T (p.R129*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70283557C>T" "" "VUS" "" "0000577136" "0" "50" "X" "69503438" "69503438" "subst" "0" "01943" "ARR3_000028" "g.69503438T>C" "" "" "" "RAB41(NM_001032726.2):c.416T>C (p.M139T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70283588T>C" "" "VUS" "" "0000619803" "0" "50" "X" "69498430" "69498430" "subst" "0.0000280277" "01943" "ARR3_000029" "g.69498430C>T" "" "" "" "ARR3(NM_004312.2):c.844C>T (p.R282W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70278580C>T" "" "VUS" "" "0000619804" "0" "90" "X" "69498434" "69498434" "del" "0" "01943" "ARR3_000030" "g.69498434del" "" "" "" "ARR3(NM_004312.2):c.848delG (p.G283Afs*42), ARR3(NM_004312.3):c.848delG (p.G283Afs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70278584del" "" "pathogenic" "" "0000619805" "0" "50" "X" "69500654" "69500654" "subst" "0.000419766" "01943" "ARR3_000019" "g.69500654C>T" "" "" "" "ARR3(NM_004312.2):c.1052C>T (p.P351L, p.(Pro351Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70280804C>T" "" "VUS" "" "0000660387" "0" "90" "X" "69497339" "69497339" "subst" "0" "03649" "ARR3_000031" "g.69497339C>G" "" "" "" "" "inheritance X-linked complex" "Germline" "yes" "" "0" "" "" "g.70277489C>G" "" "pathogenic (!)" "" "0000664269" "1" "90" "X" "69498479" "69498479" "subst" "0" "00006" "ARR3_000036" "g.69498479C>A" "" "{PMID:Xiao 2016:27829781}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70278629C>A" "" "pathogenic (!)" "" "0000664270" "1" "90" "X" "69496084" "69496084" "subst" "0" "00006" "ARR3_000035" "g.69496084C>T" "" "{PMID:Xiao 2016:27829781}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70276234C>T" "" "pathogenic (!)" "" "0000664271" "1" "90" "X" "69496025" "69496025" "subst" "0" "00006" "ARR3_000034" "g.69496025T>C" "" "{PMID:Xiao 2016:27829781}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70276175T>C" "" "pathogenic (!)" "" "0000664273" "1" "90" "X" "69489753" "69489753" "subst" "0" "00006" "ARR3_000032" "g.69489753G>C" "" "{PMID:Liu 2020:32215939}" "" "" "" "Germline" "" "" "0" "" "" "g.70269903G>C" "" "pathogenic (recessive)" "" "0000664274" "1" "90" "X" "69500129" "69500129" "subst" "0" "00006" "ARR3_000037" "g.69500129G>A" "" "{PMID:Liu 2020:32215939}" "" "" "" "Germline" "" "" "0" "" "" "g.70280279G>A" "" "pathogenic (recessive)" "" "0000664281" "1" "10" "X" "69495995" "69495995" "subst" "0.000196052" "00006" "ARR3_000033" "g.69495995C>T" "" "{PMID:Liu 2020:32215939}" "" "" "" "Germline" "" "" "0" "" "" "g.70276145C>T" "" "benign" "" "0000682591" "0" "50" "X" "69497254" "69497254" "subst" "0" "01943" "ARR3_000038" "g.69497254C>T" "" "" "" "ARR3(NM_004312.2):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693702" "0" "50" "X" "69503119" "69503119" "subst" "0" "01943" "ARR3_000039" "g.69503119T>C" "" "" "" "RAB41(NM_001032726.2):c.236T>C (p.V79A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729131" "0" "50" "X" "69500654" "69500654" "subst" "0.00159511" "01943" "ARR3_000040" "g.69500654C>G" "" "" "" "ARR3(NM_004312.2):c.1052C>G (p.P351R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810606" "0" "50" "X" "69498476" "69498476" "subst" "0" "02327" "ARR3_000041" "g.69498476T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867517" "0" "50" "X" "69502685" "69502685" "subst" "0.0000111863" "01943" "ARR3_000042" "g.69502685A>G" "" "" "" "RAB41(NM_001363807.1):c.217A>G (p.M73V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896332" "0" "90" "X" "69498434" "69498434" "del" "0" "02329" "ARR3_000030" "g.69498434del" "" "" "" "ARR3(NM_004312.2):c.848delG (p.G283Afs*42), ARR3(NM_004312.3):c.848delG (p.G283Afs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915752" "0" "50" "X" "69500636" "69500636" "subst" "0.000106302" "02327" "ARR3_000043" "g.69500636C>A" "" "" "" "" "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 ARR3 ## Count = 45 "{{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}}" "0000001992" "00000364" "50" "1067" "-86" "1067" "-86" "c.1067-86dup" "r.(=)" "p.(=)" "" "0000003028" "00000364" "50" "1067" "-86" "1067" "-86" "c.1067-86dup" "r.(=)" "p.(=)" "" "0000007064" "00000364" "50" "146" "-115" "146" "-115" "c.146-115G>A" "r.(=)" "p.(=)" "" "0000007065" "00000364" "50" "346" "-55" "346" "-55" "c.346-55T>C" "r.(=)" "p.(=)" "" "0000007066" "00000364" "50" "896" "0" "896" "0" "c.896C>G" "r.(?)" "p.(Ser299Cys)" "" "0000007067" "00000364" "50" "905" "205" "905" "205" "c.905+205C>T" "r.(=)" "p.(=)" "" "0000009153" "00000364" "50" "146" "-154" "146" "-154" "c.146-154C>A" "r.(=)" "p.(=)" "" "0000009154" "00000364" "50" "146" "-115" "146" "-115" "c.146-115G>A" "r.(=)" "p.(=)" "" "0000009155" "00000364" "50" "346" "-55" "346" "-55" "c.346-55T>C" "r.(=)" "p.(=)" "" "0000009156" "00000364" "50" "896" "0" "896" "0" "c.896C>G" "r.(?)" "p.(Ser299Cys)" "" "0000009157" "00000364" "50" "905" "205" "905" "205" "c.905+205C>T" "r.(=)" "p.(=)" "" "0000262982" "00000364" "30" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Leu290Pro)" "" "0000306704" "00000364" "50" "1964" "0" "1964" "0" "c.*797T>C" "r.(=)" "p.(=)" "" "0000306705" "00000364" "10" "2772" "0" "2772" "0" "c.*1605C>T" "r.(=)" "p.(=)" "" "0000334515" "00000364" "30" "470" "0" "470" "0" "c.470A>G" "r.(?)" "p.(Lys157Arg)" "" "0000334516" "00000364" "50" "749" "0" "749" "0" "c.749T>C" "r.(?)" "p.(Val250Ala)" "" "0000334517" "00000364" "50" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Pro351Leu)" "" "0000334520" "00000364" "50" "1749" "0" "1749" "0" "c.*582G>A" "r.(=)" "p.(=)" "" "0000334521" "00000364" "50" "2232" "0" "2232" "0" "c.*1065G>T" "r.(=)" "p.(=)" "" "0000334523" "00000364" "50" "2732" "0" "2732" "0" "c.*1565A>T" "r.(=)" "p.(=)" "" "0000334524" "00000364" "50" "2772" "0" "2772" "0" "c.*1605C>T" "r.(=)" "p.(=)" "" "0000334525" "00000364" "50" "4000" "0" "4000" "0" "c.*2833G>A" "r.(=)" "p.(=)" "" "0000577128" "00000364" "10" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Ser9=)" "" "0000577129" "00000364" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72Ter)" "" "0000577131" "00000364" "30" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Pro193Ser)" "" "0000577133" "00000364" "90" "767" "1" "767" "1" "c.767+1G>A" "r.spl?" "p.?" "" "0000577134" "00000364" "50" "2958" "0" "2958" "0" "c.*1791C>T" "r.(=)" "p.(=)" "" "0000577136" "00000364" "50" "2989" "0" "2989" "0" "c.*1822T>C" "r.(=)" "p.(=)" "" "0000619803" "00000364" "50" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Trp)" "" "0000619804" "00000364" "90" "848" "0" "848" "0" "c.848del" "r.(?)" "p.(Gly283AlafsTer42)" "" "0000619805" "00000364" "50" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Pro351Leu)" "" "0000660387" "00000364" "90" "569" "0" "569" "0" "c.569C>G" "r.(?)" "p.(Ser190*)" "" "0000664269" "00000364" "90" "893" "0" "893" "0" "c.893C>A" "r.(?)" "p.(Ala298Asp)" "1" "0000664270" "00000364" "90" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Arg100*)" "1" "0000664271" "00000364" "90" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Leu80Pro)" "1" "0000664273" "00000364" "90" "100" "0" "100" "0" "c.100G>C" "r.(?)" "p.(Asp34His)" "" "0000664274" "00000364" "90" "989" "1" "989" "1" "c.989+1G>A" "r.spl" "p.?" "" "0000664281" "00000364" "10" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Thr70Met)" "" "0000682591" "00000364" "50" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "" "0000693702" "00000364" "50" "2670" "0" "2670" "0" "c.*1503T>C" "r.(=)" "p.(=)" "" "0000729131" "00000364" "50" "1052" "0" "1052" "0" "c.1052C>G" "r.(?)" "p.(Pro351Arg)" "" "0000810606" "00000364" "50" "890" "0" "890" "0" "c.890T>G" "r.(?)" "p.(Leu297Arg)" "" "0000867517" "00000364" "50" "2236" "0" "2236" "0" "c.*1069A>G" "r.(=)" "p.(=)" "" "0000896332" "00000364" "90" "848" "0" "848" "0" "c.848del" "r.(?)" "p.(Gly283AlafsTer42)" "" "0000915752" "00000364" "50" "1034" "0" "1034" "0" "c.1034C>A" "r.(?)" "p.(Pro345His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001992" "0000000209" "0000003028" "0000000209" "0000007064" "0000000209" "0000007065" "0000000209" "0000007066" "0000000209" "0000007067" "0000000210" "0000009153" "0000000210" "0000009154" "0000000210" "0000009155" "0000000210" "0000009156" "0000000210" "0000009157" "0000297727" "0000660387" "0000301350" "0000664269" "0000301351" "0000664270" "0000301352" "0000664271" "0000301354" "0000664273" "0000301355" "0000664274" "0000301362" "0000664281"