### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARSG) # 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}}" "ARSG" "arylsulfatase G" "17" "q24" "unknown" "NG_032814.2" "UD_129251799145" "" "https://www.LOVD.nl/ARSG" "" "1" "24102" "22901" "610008" "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/ARSG_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-08-28 14:19:25" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00002922" "ARSG" "arylsulfatase G" "001" "NM_014960.3" "" "NP_055775.2" "" "" "" "-796" "1974" "1578" "66255323" "66417000" "" "0000-00-00 00:00:00" "" "" "00025797" "ARSG" "transcript variant 1" "001" "NM_014960.4" "" "NP_055775.2" "" "" "" "-796" "1974" "1578" "66255323" "66417000" "00006" "2023-01-25 12:09:51" "" "" "00025798" "ARSG" "transcript variant 2" "004" "NM_001267727.1" "" "NP_001254656.1" "" "" "" "-625" "1974" "1578" "66287636" "66417000" "00006" "2023-01-25 12:09:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "05258" "CLN" "lipofuscinosis, ceroid, neuronal (CLN)" "" "" "" "" "" "00006" "2017-04-03 15:00:30" "00006" "2017-04-04 08:43:07" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "05822" "USH4" "Usher syndrome,, type IV (USH4)" "AR" "618144" "" "" "" "00006" "2020-08-28 14:19:03" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ARSG" "05415" "ARSG" "05822" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00249645" "" "" "" "91" "" "00011" "" "healhty carrier dogs" "" "no" "" "" "0" "" "" "" "" "00249646" "" "" "" "138" "" "00011" "" "" "" "no" "" "" "0" "" "" "" "" "00308952" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309516" "" "" "" "2" "" "00006" "{PMID:Khateb 2018:29300381}" "4-generation family, 2 affected brothers" "M" "yes" "Israel" "" "0" "" "" "Yemenite;Jewish" "MOL0120" "00309517" "" "" "" "2" "" "00006" "{PMID:Khateb 2018:29300381}" "3-generation family, 2 affected sisters" "F" "" "Israel" "" "0" "" "" "Yemenite;Jewish" "MOL0737" "00309518" "" "" "" "1" "" "00006" "{PMID:Khateb 2018:29300381}" "3-generation family, 1 affected" "F" "" "Israel" "" "0" "" "" "Yemenite;Jewish" "TB55" "00410956" "" "" "" "1" "" "00000" "{PMID:Abad Morales 2020:32455177}" "" "F" "yes" "" "" "0" "" "" "Spanish" "" "00410957" "" "" "" "1" "" "00000" "{PMID:Peter 2021:33629623}" "" "F" "?" "Portugal" "" "0" "" "" "Portuguese" "Individual 1" "00410958" "" "" "" "1" "" "00000" "{PMID:Peter 2021:33629623}" "" "F" "?" "Portugal" "" "0" "" "" "Portuguese" "Individual 2" "00410959" "" "" "" "1" "" "00000" "{PMID:Fowler 2021:33629623}" "" "M" "?" "(United States)" "" "0" "" "" "Persian" "" "00412481" "" "" "" "1" "" "00000" "{PMID:Delvallee 2021:33169370}" "" "" "" "France" "" "0" "" "" "" "D.II-2" "00430927" "" "" "" "1" "" "04091" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}, {PMID:de Bruijn 2023:36524988}" "" "M" "" "Ireland" "" "0" "" "" "white" "PatD;071951" "00430939" "" "" "" "1" "" "04091" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}" "" "F" "" "Germany" "" "0" "" "" "" "PatF" "00430986" "" "" "" "1" "" "00006" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}" "" "M" "" "Netherlands" "" "0" "" "" "Turkey" "PatN" "00430999" "" "" "" "1" "" "00006" "{PMID:Igelman 2021:34223797}" "" "M" "no" "" "" "0" "" "" "" "ARSG-1" "00431000" "" "" "" "1" "" "00006" "{PMID:Igelman 2021:34223797}" "" "F" "no" "" "" "0" "" "" "" "ARSG-2" "00431001" "" "" "" "1" "" "00006" "{PMID:Igelman 2021:34223797}" "" "F" "yes" "" "" "0" "" "" "" "ARSG-29692" "00447445" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "USHII-369" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00249645" "00000" "00249646" "05258" "00308952" "04214" "00309516" "04214" "00309517" "04214" "00309518" "04214" "00410956" "04214" "00410957" "04214" "00410958" "04214" "00410959" "04214" "00412481" "04214" "00430927" "04214" "00430939" "04214" "00430986" "04214" "00430999" "04214" "00431000" "04214" "00431001" "04214" "00447445" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04214, 05258, 05415, 05822 ## Count = 18 "{{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}}" "0000188529" "00000" "00249645" "00011" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000234272" "04214" "00308952" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical USH" "" "0000234836" "04214" "00309516" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "USH4" "Usher syndrome" "" "0000234837" "04214" "00309517" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "USH4" "Usher syndrome" "" "0000234838" "04214" "00309518" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "USH4" "Usher syndrome" "" "0000253856" "05258" "00249646" "00011" "Familial, autosomal recessive" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "0000303046" "04214" "00410956" "00000" "Familial, autosomal recessive" "44y" "pericentral retinal pigment epithelium alteration that extended beyond the optic nerve, with midperipheral bone spicule-like disturbances; see paper" "" "" "progressive nyctalopia, with a previous history of hearing impairment since infancy" "" "" "" "" "" "" "Usher syndrome type 2 (USH2)" "" "0000303047" "04214" "00410957" "00000" "Familial, autosomal recessive" "74y" "nyctalopia, peripheral visual field loss, photopsia, and dyschromatopsia for dark tones. See paperÂ…" "45y" "" "decline of visual acuity, which further progressed over time" "" "" "" "" "" "Usher syndrome type IV" "retinitis pigmentosa and sensorineural hearing loss" "" "0000303048" "04214" "00410958" "00000" "Familial, autosomal recessive" "60y" "VA: greatly diminished (only detect hand movements (both eyes)). Round cortical lens opacities were observed bilaterally. Pale optic discs and vascular attenuation were observed. See paperÂ…" "35y" "" "nyctalopia" "" "" "" "" "" "Usher syndrome type IV" "retinitis pigmentosa and sensorineural hearing loss" "" "0000303049" "04214" "00410959" "00000" "Familial, autosomal recessive" "60y" "previously diagnosed with macular edema; 20 years of progressive SNHL, and 10 years of progressive peripheral vision loss and pigmentary retinopathy. Late-onset sensorineural hearing loss without vestibular abnormalities and a late-onset retinal involvement that on DFE that showed the ring-shaped retinal atrophy encompassing the vascular arcades temporally and extending nasal to optic nerve with preservation of the mid- and far-periphery. See paper..." "" "" "" "" "" "" "" "" "" "atypical Usher syndrome" "" "0000304483" "04214" "00412481" "00000" "Familial, autosomal recessive" "" "sensorineural features: retinal dystrophy; abnormalities of the hands and feet: postaxial polydactyly: hands; clinodactyly; obesity: BMI (29.3); slow ideation; urogenital anomalies; other clinical features: hepatic steatosis, lumbar stenosis, iron deficiency" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "" "0000321536" "04214" "00430927" "04091" "Familial, autosomal recessive" "87y" "see paper" "" "" "" "" "" "" "" "" "USH4" "Usher syndrome" "" "0000321548" "04214" "00430939" "04091" "Familial, autosomal recessive" "72y" "see paper" "" "" "" "" "" "" "" "" "USH4" "Usher syndrome" "" "0000321595" "04214" "00430986" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 46y-peripheral vision loss, night blindness" "" "" "" "" "" "" "" "" "USH4" "" "" "0000321607" "04214" "00430999" "00006" "Familial, autosomal recessive" "48y" "see paper; ..., cataract; no macular findings; no sensorineural hearing loss; no vestibular symptoms" "30y-35y" "" "" "" "" "" "" "" "USH4" "atypical Usher syndrome" "" "0000321608" "04214" "00431000" "00006" "Familial, autosomal recessive" "" "see paper; ..., no cataract; foveal sparing atrophy; ffERG moderate rod-cone dystrophy; 50y-moderate sensorineural hearing loss, unclear progression; no vestibular symptoms" "65y" "" "" "" "" "" "" "" "USH4" "atypical Usher syndrome" "" "0000321609" "04214" "00431001" "00006" "Familial, autosomal recessive" "" "see paper; ..., cataract; atrophy; 50y-severe sensorineural hearing loss, stable; vestibular symptoms" "40y" "" "" "" "" "" "" "" "USH4" "atypical Usher syndrome" "" "0000336644" "00198" "00447445" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000250753" "00249645" "1" "00011" "00011" "2012-11-02 17:42:00" "" "" "SEQ" "DNA" "" "" "0000250754" "00249646" "1" "00011" "00011" "2012-11-02 17:42:00" "" "" "SEQ" "DNA" "" "" "0000310097" "00308952" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310661" "00309516" "1" "00006" "00006" "2020-08-28 14:35:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310662" "00309517" "1" "00006" "00006" "2020-08-28 14:35:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310663" "00309518" "1" "00006" "00006" "2020-08-28 14:35:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000412220" "00410956" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ;RT-PCR" "DNA;RNA" "" "WES" "0000412221" "00410957" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000412222" "00410958" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000412223" "00410959" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "?" "DNA" "" "" "0000413751" "00412481" "1" "00000" "03840" "2022-06-29 13:33:34" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000432338" "00430927" "1" "04091" "00006" "2023-01-25 13:11:03" "" "" "SEQ-NG" "DNA" "" "WGS" "0000432350" "00430939" "1" "04091" "00006" "2023-01-25 13:11:03" "" "" "SEQ-NG" "DNA" "" "WGS" "0000432397" "00430986" "1" "00006" "00006" "2023-01-25 13:23:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES gene panel" "0000432409" "00430999" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" "" "0000432410" "00431000" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" "" "0000432411" "00431001" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" "" "0000449022" "00447445" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000250753" "ARSG" "0000250754" "ARSG" "0000310097" "ARSG" "0000310661" "ARSG" "0000310662" "ARSG" "0000310663" "ARSG" "0000412220" "ARSG" "0000412221" "ARSG" "0000412222" "ARSG" "0000412223" "ARSG" "0000413751" "BBS1" ## 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 = 80 "{{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}}" "0000250235" "0" "10" "17" "66521877" "66521877" "subst" "0.00722754" "02329" "PRKAR1A_000028" "g.66521877A>G" "" "" "" "PRKAR1A(NM_002734.5):c.550-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68525736A>G" "" "benign" "" "0000297355" "0" "10" "17" "66519861" "66519861" "dup" "0" "02325" "PRKAR1A_000026" "g.66519861dup" "" "" "" "PRKAR1A(NM_212471.3):c.349-4delCinsTC, PRKAR1A(NM_212471.3):c.349-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68523720dup" "" "benign" "" "0000299080" "0" "10" "17" "66511627" "66511627" "subst" "0.0179366" "02329" "PRKAR1A_000024" "g.66511627G>A" "" "" "" "PRKAR1A(NM_001276289.1):c.87G>A (p.(Ala29=)), PRKAR1A(NM_002734.5):c.87G>A (p.A29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68515486G>A" "" "benign" "" "0000301209" "0" "30" "17" "66518940" "66518940" "subst" "0.00039429" "02326" "PRKAR1A_000025" "g.66518940G>A" "" "" "" "PRKAR1A(NM_001369389.1):c.221G>A (p.R74H), PRKAR1A(NM_002734.5):c.221G>A (p.R74H), PRKAR1A(NM_212471.2):c.221G>A (p.R74H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68522799G>A" "" "likely benign" "" "0000301210" "0" "10" "17" "66519972" "66519972" "subst" "0.00122822" "02326" "PRKAR1A_000027" "g.66519972T>C" "" "" "" "PRKAR1A(NM_212471.2):c.440+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68523831T>C" "" "benign" "" "0000347210" "0" "10" "17" "66533655" "66533655" "subst" "0.71316" "02327" "FAM20A_000007" "g.66533655A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68537514A>G" "" "benign" "" "0000562863" "0" "30" "17" "66303721" "66303721" "subst" "0.00187622" "02330" "SLC16A6_000001" "g.66303721G>A" "" "" "" "ARSG(NM_001352903.2):c.87G>A (p.G29=), ARSG(NM_001352910.1):c.87G>A (p.G29=), ARSG(NM_014960.5):c.87G>A (p.G29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68307580G>A" "" "likely benign" "" "0000562864" "0" "70" "17" "66526546" "66526546" "subst" "0" "01804" "PRKAR1A_000010" "g.66526546C>T" "" "" "" "PRKAR1A(NM_001276289.1):c.1102C>T (p.(Arg368Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68530405C>T" "" "likely pathogenic" "" "0000580091" "3" "95" "17" "66339822" "66339822" "subst" "2.84527E-5" "00011" "ARSG_000000" "g.66339822G>A" "138/138 cases" "{PMID:Abitbol 2010:20679209}" "" "" "296G>A (R99H) in dog; mapped by linkage" "animal model" "" "" "0" "" "" "g.68343681G>A" "" "pathogenic (recessive)" "" "0000580092" "1" "95" "17" "66339822" "66339822" "subst" "2.84527E-5" "00011" "ARSG_000000" "g.66339822G>A" "91/181 cases" "{PMID:Abitbol 2010:20679209}" "" "" "296G>A (R99H) in dog; mapped by linkage; not in 525 dogs from 54 other breeds; normal 2nd chromosome" "animal model" "" "" "0" "" "" "g.68343681G>A" "" "pathogenic (recessive)" "" "0000580093" "0" "95" "17" "66339822" "66339822" "subst" "2.84527E-5" "00011" "ARSG_000000" "g.66339822G>A" "91/181 cases" "{PMID:Abitbol 2010:20679209}" "" "" "expression cloning HEK293T cells, sulfatase activity decreased by 0.75" "In vitro (cloned)" "" "" "0" "" "" "g.68343681G>A" "" "NA" "" "0000623748" "0" "90" "17" "66339933" "66339933" "subst" "0" "01943" "SLC16A6_000002" "g.66339933G>C" "" "" "" "ARSG(NM_001352910.1):c.406+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68343792G>C" "" "pathogenic" "" "0000623749" "0" "30" "17" "66352789" "66352789" "subst" "0" "02330" "SLC16A6_000003" "g.66352789G>T" "" "" "" "ARSG(NM_001352903.2):c.567-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68356648G>T" "" "likely benign" "" "0000680991" "0" "50" "17" "66339812" "66339812" "subst" "0" "01943" "SLC16A6_000004" "g.66339812C>G" "" "" "" "ARSG(NM_001352910.1):c.286C>G (p.L96V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000685008" "3" "90" "17" "66303767" "66303767" "subst" "0" "00004" "ARSG_000001" "g.66303767G>T" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000685582" "3" "90" "17" "66303767" "66303767" "subst" "0" "00006" "ARSG_000001" "g.66303767G>T" "" "{PMID:Khateb 2018:29300381}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685583" "3" "90" "17" "66303767" "66303767" "subst" "0" "00006" "ARSG_000001" "g.66303767G>T" "" "{PMID:Khateb 2018:29300381}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685584" "3" "90" "17" "66303767" "66303767" "subst" "0" "00006" "ARSG_000001" "g.66303767G>T" "" "{PMID:Khateb 2018:29300381}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000692449" "0" "50" "17" "66521899" "66521899" "subst" "8.12308E-6" "02327" "FAM20A_000031" "g.66521899A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726631" "0" "30" "17" "66303721" "66303721" "subst" "0.00187622" "01943" "SLC16A6_000001" "g.66303721G>A" "" "" "" "ARSG(NM_001352903.2):c.87G>A (p.G29=), ARSG(NM_001352910.1):c.87G>A (p.G29=), ARSG(NM_014960.5):c.87G>A (p.G29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726632" "0" "70" "17" "66339801" "66339801" "subst" "4.06534E-6" "02327" "SLC16A6_000005" "g.66339801T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726633" "0" "30" "17" "66352836" "66352836" "subst" "0.00131595" "01943" "SLC16A6_000006" "g.66352836G>A" "" "" "" "ARSG(NM_001352910.1):c.595G>A (p.V199M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726634" "0" "50" "17" "66364769" "66364769" "subst" "5.28576E-5" "01943" "SLC16A6_000007" "g.66364769C>T" "" "" "" "ARSG(NM_001352910.1):c.785C>T (p.A262V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726635" "0" "70" "17" "66391335" "66391335" "subst" "0" "02327" "SLC16A6_000008" "g.66391335G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726636" "0" "50" "17" "66416504" "66416504" "subst" "0.00261967" "01943" "SLC16A6_000009" "g.66416504T>C" "" "" "" "ARSG(NM_014960.4):c.1478T>C (p.I493T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726637" "0" "90" "17" "66526546" "66526546" "subst" "0" "02327" "PRKAR1A_000010" "g.66526546C>T" "" "" "" "PRKAR1A(NM_001276289.1):c.1102C>T (p.(Arg368Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808231" "0" "30" "17" "66364740" "66364740" "subst" "0.00029689" "02330" "ARSG_000002" "g.66364740G>A" "" "" "" "ARSG(NM_001352903.2):c.753G>A (p.V251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808232" "0" "50" "17" "66397558" "66397558" "subst" "0" "01943" "ARSG_000003" "g.66397558C>T" "" "" "" "ARSG(NM_001352910.1):c.1270C>T (p.R424C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808233" "0" "10" "17" "66520112" "66520112" "subst" "0.00487398" "02369" "FAM20A_000032" "g.66520112G>A" "" "" "" "PRKAR1A(NM_212471.2):c.441-45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855070" "0" "30" "17" "66303841" "66303841" "subst" "7.32267E-5" "01943" "SLC16A6_000010" "g.66303841G>A" "" "" "" "ARSG(NM_001352910.1):c.207G>A (p.S69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855071" "0" "30" "17" "66339922" "66339922" "subst" "5.31784E-5" "01943" "SLC16A6_000011" "g.66339922T>A" "" "" "" "ARSG(NM_001352910.1):c.396T>A (p.T132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855072" "0" "30" "17" "66339947" "66339947" "subst" "6.46E-5" "02330" "SLC16A6_000012" "g.66339947C>T" "" "" "" "ARSG(NM_001352903.2):c.406+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855073" "0" "30" "17" "66347801" "66347801" "subst" "1.62491E-5" "01943" "SLC16A6_000013" "g.66347801G>A" "" "" "" "ARSG(NM_001352910.1):c.540G>A (p.A180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855074" "0" "50" "17" "66364750" "66364750" "subst" "0.00036193" "01943" "SLC16A6_000014" "g.66364750G>A" "" "" "" "ARSG(NM_001352910.1):c.766G>A (p.V256M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865470" "0" "10" "17" "66511627" "66511627" "subst" "0.0179366" "01804" "PRKAR1A_000024" "g.66511627G>A" "" "" "" "PRKAR1A(NM_001276289.1):c.87G>A (p.(Ala29=)), PRKAR1A(NM_002734.5):c.87G>A (p.A29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865471" "0" "50" "17" "66523997" "66523997" "subst" "0" "01943" "FAM20A_000037" "g.66523997A>C" "" "" "" "PRKAR1A(NM_212471.2):c.725A>C (p.K242T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865472" "0" "30" "17" "66526473" "66526473" "subst" "0.000568657" "01943" "FAM20A_000038" "g.66526473C>T" "" "" "" "PRKAR1A(NM_001369389.1):c.1029C>T (p.G343=), PRKAR1A(NM_212471.2):c.1029C>T (p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865473" "0" "30" "17" "66533733" "66533733" "subst" "0.0014996" "01804" "FAM20A_000039" "g.66533733G>A" "" "" "" "FAM20A(NM_001243746.1):c.1097C>T (p.(Thr366Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000869484" "3" "70" "17" "66303764" "66303764" "subst" "2.43679E-5" "00000" "ARSG_000004" "g.66303764G>A" "0/261 controls" "{PMID:Abad Morales 2020:32455177}" "" "c.130G>A (p.Asp44Asn)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000869485" "3" "90" "17" "66416352" "66416352" "del" "0" "00000" "ARSG_000007" "g.66416352del" "" "{PMID:Peter 2021:33629623}" "" "c.1326del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869486" "1" "90" "17" "66339779" "66339779" "subst" "8.1473E-6" "00000" "ARSG_000005" "g.66339779T>C" "" "{PMID:Peter 2021:33629623}" "" "c.253T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869487" "2" "90" "17" "66339864" "66339864" "subst" "4.06382E-6" "00000" "ARSG_000006" "g.66339864G>A" "" "{PMID:Peter 2021:33629623}" "" "c.338G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869488" "3" "90" "17" "66397558" "66397558" "subst" "0" "00000" "ARSG_000003" "g.66397558C>T" "" "{PMID:Fowler 2021:33629623}" "" "c.1270 C > T, p. Arg424Cys" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000871286" "0" "90" "17" "66293652" "66293652" "subst" "0" "00000" "BBS1_000001" "g.66293652T>G" "" "{PMID:Delvallee 2021:33169370}" "" "BBS1 c.1169T>G, p.(Met390Arg)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.66526181T>G" "" "pathogenic (recessive)" "" "0000894220" "0" "30" "17" "66366586" "66366586" "subst" "0.00153256" "02330" "SLC16A6_000015" "g.66366586A>G" "" "" "" "ARSG(NM_001352903.2):c.900A>G (p.G300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000917748" "1" "90" "17" "66352829" "66352829" "subst" "0" "04091" "ARSG_000012" "g.66352829C>A" "" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}, {PMID:de Bruijn 2023:36524988}" "" "" "" "Germline" "" "" "0" "" "" "g.68356688C>A" "" "pathogenic" "ACMG" "0000917760" "1" "90" "17" "66416352" "66416352" "del" "0" "04091" "ARSG_000007" "g.66416352del" "" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}" "" "" "" "Germline" "" "" "0" "" "" "g.68420211del" "" "pathogenic" "ACMG" "0000917829" "2" "90" "17" "66360749" "66369617" "del" "0" "04091" "ARSG_000013" "g.66360749_66369617del" "" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}, {PMID:de Bruijn 2023:36524988}" "" "" "" "Germline" "" "" "0" "" "" "g.68364608_68373476del" "" "pathogenic" "ACMG" "0000917841" "2" "70" "17" "66381246" "66381246" "subst" "8.13101E-6" "04091" "ARSG_000008" "g.66381246C>T" "" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}" "" "" "" "Germline" "" "" "0" "" "" "g.68385105C>T" "" "likely pathogenic" "ACMG" "0000917857" "1" "90" "17" "66391335" "66391335" "subst" "0" "00006" "SLC16A6_000008" "g.66391335G>A" "" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}" "" "" "AVMG PVS1-S, PS3-M, PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.68395194G>A" "" "pathogenic (recessive)" "" "0000917858" "2" "90" "17" "66339801" "66339801" "subst" "4.06534E-6" "00006" "SLC16A6_000005" "g.66339801T>C" "" "{PMID:Velde 2022:35226187}, {DOI:Velde 2022: 10.1007/s00439-022-02441-0}" "" "" "AVMG PS3-M, PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.68343660T>C" "" "pathogenic (recessive)" "" "0000917876" "1" "90" "17" "66339809" "66339809" "subst" "0" "00006" "ARSG_000009" "g.66339809C>T" "" "{PMID:Igelman 2021:34223797}" "" "" "" "Germline" "" "" "0" "" "" "g.68343668C>T" "" "pathogenic (recessive)" "" "0000917877" "1" "90" "17" "66381226" "66381226" "subst" "3.25304E-5" "00006" "ARSG_000014" "g.66381226C>T" "" "{PMID:Igelman 2021:34223797}" "" "" "" "Germline" "" "" "0" "" "" "g.68385085C>T" "" "pathogenic (recessive)" "" "0000917878" "3" "90" "17" "66339863" "66339863" "subst" "0" "00006" "ARSG_000010" "g.66339863G>A" "" "{PMID:Igelman 2021:34223797}" "" "" "" "Germline" "" "" "0" "" "" "g.68343722G>A" "" "pathogenic (recessive)" "" "0000917889" "2" "90" "17" "66347830" "66347835" "del" "0" "00006" "ARSG_000011" "g.66347830_66347835del" "" "{PMID:Igelman 2021:34223797}" "" "" "" "Germline" "" "" "0" "" "" "g.68351689_68351694del" "" "pathogenic (recessive)" "" "0000917890" "2" "90" "17" "66416352" "66416352" "del" "0" "00006" "ARSG_000007" "g.66416352del" "" "{PMID:Igelman 2021:34223797}" "" "c.1326delG" "" "Germline" "" "" "0" "" "" "g.68420211del" "" "pathogenic (recessive)" "" "0000930879" "0" "30" "17" "66397521" "66397521" "subst" "0.00084581" "02330" "SLC16A6_000016" "g.66397521C>T" "" "" "" "ARSG(NM_014960.5):c.1233C>T (p.S411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958789" "3" "70" "17" "66416538" "66416557" "del" "0" "00006" "ARSG_000015" "g.66416538_66416557del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_MODERATE, PP5_STRONG" "Germline" "" "" "0" "" "" "g.68420397_68420416del" "1275781" "likely pathogenic (recessive)" "ACMG" "0000969194" "0" "30" "17" "66303721" "66303721" "subst" "0.00187622" "02329" "SLC16A6_000001" "g.66303721G>A" "" "" "" "ARSG(NM_001352903.2):c.87G>A (p.G29=), ARSG(NM_001352910.1):c.87G>A (p.G29=), ARSG(NM_014960.5):c.87G>A (p.G29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969195" "0" "50" "17" "66381226" "66381226" "subst" "3.25304E-5" "02327" "ARSG_000014" "g.66381226C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969196" "0" "50" "17" "66511611" "66511611" "subst" "8.12176E-6" "02327" "FAM20A_000044" "g.66511611A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969197" "0" "30" "17" "66511643" "66511643" "subst" "0.000117766" "02325" "FAM20A_000045" "g.66511643A>G" "" "" "" "PRKAR1A(NM_002734.5):c.103A>G (p.I35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969198" "0" "30" "17" "66518902" "66518902" "subst" "0" "02330" "FAM20A_000046" "g.66518902G>A" "" "" "" "PRKAR1A(NM_001369389.1):c.183G>A (p.E61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969199" "0" "30" "17" "66518940" "66518940" "subst" "0.00039429" "02330" "PRKAR1A_000025" "g.66518940G>A" "" "" "" "PRKAR1A(NM_001369389.1):c.221G>A (p.R74H), PRKAR1A(NM_002734.5):c.221G>A (p.R74H), PRKAR1A(NM_212471.2):c.221G>A (p.R74H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969200" "0" "30" "17" "66519898" "66519898" "subst" "8.53464E-5" "02330" "FAM20A_000047" "g.66519898T>C" "" "" "" "PRKAR1A(NM_001369389.1):c.381T>C (p.A127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969201" "0" "30" "17" "66526473" "66526473" "subst" "0.000568657" "02330" "FAM20A_000038" "g.66526473C>T" "" "" "" "PRKAR1A(NM_001369389.1):c.1029C>T (p.G343=), PRKAR1A(NM_212471.2):c.1029C>T (p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982740" "0" "30" "17" "66525002" "66525002" "subst" "0.00109326" "02330" "FAM20A_000050" "g.66525002G>T" "" "" "" "PRKAR1A(NM_001369389.1):c.770-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982741" "0" "50" "17" "66526133" "66526133" "subst" "0" "02327" "FAM20A_000051" "g.66526133G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003618" "0" "30" "17" "66520205" "66520205" "subst" "0.000203095" "02330" "FAM20A_000055" "g.66520205T>C" "" "" "" "PRKAR1A(NM_001369389.1):c.489T>C (p.T163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015607" "0" "50" "17" "66511724" "66511724" "subst" "0" "02330" "FAM20A_000056" "g.66511724A>G" "" "" "" "PRKAR1A(NM_001369389.1):c.177+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015608" "0" "30" "17" "66518923" "66518923" "subst" "0.00113384" "02329" "FAM20A_000057" "g.66518923G>A" "" "" "" "PRKAR1A(NM_002734.5):c.204G>A (p.L68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027047" "0" "10" "17" "66391276" "66391276" "subst" "0.0664611" "02327" "SLC16A6_000017" "g.66391276G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027048" "0" "30" "17" "66511747" "66511747" "subst" "0.00197331" "02329" "FAM20A_000058" "g.66511747T>G" "" "" "" "PRKAR1A(NM_002734.5):c.177+30T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027049" "0" "30" "17" "66518940" "66518940" "subst" "0.00039429" "02325" "PRKAR1A_000025" "g.66518940G>A" "" "" "" "PRKAR1A(NM_001369389.1):c.221G>A (p.R74H), PRKAR1A(NM_002734.5):c.221G>A (p.R74H), PRKAR1A(NM_212471.2):c.221G>A (p.R74H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027050" "0" "70" "17" "66521074" "66521074" "subst" "0" "02325" "PRKAR1A_000003" "g.66521074A>G" "" "" "" "PRKAR1A(NM_002734.5):c.524A>G (p.Y175C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042133" "0" "30" "17" "66519090" "66519090" "subst" "0.000356938" "01804" "FAM20A_000059" "g.66519090G>A" "" "" "" "PRKAR1A(NM_002734.5):c.348+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042134" "0" "50" "17" "66521095" "66521095" "subst" "8.13068E-6" "01804" "FAM20A_000060" "g.66521095C>T" "" "" "" "PRKAR1A(NM_002734.5):c.545C>T (p.(Thr182Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046667" "0" "50" "17" "66511679" "66511679" "subst" "1.62464E-5" "02325" "FAM20A_000064" "g.66511679A>G" "" "" "" "PRKAR1A(NM_002734.5):c.139A>G (p.M47V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056155" "0" "70" "17" "66519038" "66519044" "del" "0" "01804" "FAM20A_000065" "g.66519038_66519044del" "" "" "" "PRKAR1A(NM_002734.5):c.319_325del (p.(Glu107Metfs*20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001056156" "0" "50" "17" "66520189" "66520189" "subst" "0" "01804" "FAM20A_000066" "g.66520189T>G" "" "" "" "PRKAR1A(NM_002734.5):c.473T>G (p.(Phe158Cys))" "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 ARSG ## Count = 154 "{{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}}" "0000250235" "00025797" "10" "106851" "0" "106851" "0" "c.*105273A>G" "r.(=)" "p.(=)" "" "0000250235" "00025798" "10" "106851" "0" "106851" "0" "c.*105273A>G" "r.(=)" "p.(=)" "" "0000297355" "00025797" "10" "104835" "0" "104835" "0" "c.*103257dup" "r.(?)" "p.(=)" "" "0000297355" "00025798" "10" "104835" "0" "104835" "0" "c.*103257dup" "r.(?)" "p.(=)" "" "0000299080" "00025797" "10" "96601" "0" "96601" "0" "c.*95023G>A" "r.(=)" "p.(=)" "" "0000299080" "00025798" "10" "96601" "0" "96601" "0" "c.*95023G>A" "r.(=)" "p.(=)" "" "0000301209" "00025797" "30" "103914" "0" "103914" "0" "c.*102336G>A" "r.(=)" "p.(=)" "" "0000301209" "00025798" "30" "103914" "0" "103914" "0" "c.*102336G>A" "r.(=)" "p.(=)" "" "0000301210" "00025797" "10" "104946" "0" "104946" "0" "c.*103368T>C" "r.(=)" "p.(=)" "" "0000301210" "00025798" "10" "104946" "0" "104946" "0" "c.*103368T>C" "r.(=)" "p.(=)" "" "0000347210" "00025797" "10" "118629" "0" "118629" "0" "c.*117051A>G" "r.(=)" "p.(=)" "" "0000347210" "00025798" "10" "118629" "0" "118629" "0" "c.*117051A>G" "r.(=)" "p.(=)" "" "0000562863" "00002922" "30" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Gly29=)" "" "0000562863" "00025797" "30" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Gly29=)" "" "0000562863" "00025798" "30" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Gly29=)" "" "0000562864" "00025797" "70" "111520" "0" "111520" "0" "c.*109942C>T" "r.(=)" "p.(=)" "" "0000562864" "00025798" "70" "111520" "0" "111520" "0" "c.*109942C>T" "r.(=)" "p.(=)" "" "0000580091" "00002922" "95" "296" "0" "296" "0" "c.(296G>A)" "r.(?)" "p.(Arg99His)" "3" "0000580092" "00002922" "95" "296" "0" "296" "0" "c.(296G>A)" "r.(?)" "p.(Arg99His)" "3" "0000580093" "00002922" "95" "296" "0" "296" "0" "c.(296G>A)" "r.(?)" "p.Arg99His" "3" "0000623748" "00002922" "90" "406" "1" "406" "1" "c.406+1G>C" "r.spl?" "p.?" "" "0000623748" "00025797" "90" "406" "1" "406" "1" "c.406+1G>C" "r.spl?" "p.?" "" "0000623748" "00025798" "90" "406" "1" "406" "1" "c.406+1G>C" "r.spl?" "p.?" "" "0000623749" "00002922" "30" "567" "-19" "567" "-19" "c.567-19G>T" "r.(=)" "p.(=)" "" "0000623749" "00025797" "30" "567" "-19" "567" "-19" "c.567-19G>T" "r.(=)" "p.(=)" "" "0000623749" "00025798" "30" "567" "-19" "567" "-19" "c.567-19G>T" "r.(=)" "p.(=)" "" "0000680991" "00002922" "50" "286" "0" "286" "0" "c.286C>G" "r.(?)" "p.(Leu96Val)" "" "0000680991" "00025797" "50" "286" "0" "286" "0" "c.286C>G" "r.(?)" "p.(Leu96Val)" "" "0000680991" "00025798" "50" "286" "0" "286" "0" "c.286C>G" "r.(?)" "p.(Leu96Val)" "" "0000685008" "00002922" "90" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Asp45Tyr)" "" "0000685582" "00002922" "90" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Asp45Tyr)" "" "0000685583" "00002922" "90" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Asp45Tyr)" "" "0000685584" "00002922" "90" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Asp45Tyr)" "" "0000692449" "00025797" "50" "106873" "0" "106873" "0" "c.*105295A>G" "r.(=)" "p.(=)" "" "0000692449" "00025798" "50" "106873" "0" "106873" "0" "c.*105295A>G" "r.(=)" "p.(=)" "" "0000726631" "00002922" "30" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Gly29=)" "" "0000726631" "00025797" "30" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Gly29=)" "" "0000726631" "00025798" "30" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Gly29=)" "" "0000726632" "00002922" "70" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Leu92Pro)" "" "0000726632" "00025797" "70" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Leu92Pro)" "" "0000726632" "00025798" "70" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Leu92Pro)" "" "0000726633" "00002922" "30" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Met)" "" "0000726633" "00025797" "30" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Met)" "" "0000726633" "00025798" "30" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Met)" "" "0000726634" "00002922" "50" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ala262Val)" "" "0000726634" "00025797" "50" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ala262Val)" "" "0000726634" "00025798" "50" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ala262Val)" "" "0000726635" "00002922" "70" "1212" "1" "1212" "1" "c.1212+1G>A" "r.spl?" "p.?" "" "0000726635" "00025797" "70" "1212" "1" "1212" "1" "c.1212+1G>A" "r.spl?" "p.?" "" "0000726635" "00025798" "70" "1212" "1" "1212" "1" "c.1212+1G>A" "r.spl?" "p.?" "" "0000726636" "00002922" "50" "1478" "0" "1478" "0" "c.1478T>C" "r.(?)" "p.(Ile493Thr)" "" "0000726636" "00025797" "50" "1478" "0" "1478" "0" "c.1478T>C" "r.(?)" "p.(Ile493Thr)" "" "0000726636" "00025798" "50" "1478" "0" "1478" "0" "c.1478T>C" "r.(?)" "p.(Ile493Thr)" "" "0000726637" "00025797" "90" "111520" "0" "111520" "0" "c.*109942C>T" "r.(=)" "p.(=)" "" "0000726637" "00025798" "90" "111520" "0" "111520" "0" "c.*109942C>T" "r.(=)" "p.(=)" "" "0000808231" "00002922" "30" "756" "0" "756" "0" "c.756G>A" "r.(?)" "p.(=)" "" "0000808231" "00025797" "30" "756" "0" "756" "0" "c.756G>A" "r.(?)" "p.(Val252=)" "" "0000808231" "00025798" "30" "756" "0" "756" "0" "c.756G>A" "r.(?)" "p.(Val252=)" "" "0000808232" "00002922" "50" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424Cys)" "" "0000808232" "00025797" "50" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424Cys)" "" "0000808232" "00025798" "50" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424Cys)" "" "0000808233" "00025797" "10" "105086" "0" "105086" "0" "c.*103508G>A" "r.(=)" "p.(=)" "" "0000808233" "00025798" "10" "105086" "0" "105086" "0" "c.*103508G>A" "r.(=)" "p.(=)" "" "0000855070" "00025797" "30" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Ser69=)" "" "0000855070" "00025798" "30" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Ser69=)" "" "0000855071" "00025797" "30" "396" "0" "396" "0" "c.396T>A" "r.(?)" "p.(Thr132=)" "" "0000855071" "00025798" "30" "396" "0" "396" "0" "c.396T>A" "r.(?)" "p.(Thr132=)" "" "0000855072" "00025797" "30" "406" "15" "406" "15" "c.406+15C>T" "r.(=)" "p.(=)" "" "0000855072" "00025798" "30" "406" "15" "406" "15" "c.406+15C>T" "r.(=)" "p.(=)" "" "0000855073" "00025797" "30" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Ala180=)" "" "0000855073" "00025798" "30" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Ala180=)" "" "0000855074" "00025797" "50" "766" "0" "766" "0" "c.766G>A" "r.(?)" "p.(Val256Met)" "" "0000855074" "00025798" "50" "766" "0" "766" "0" "c.766G>A" "r.(?)" "p.(Val256Met)" "" "0000865470" "00025797" "10" "96601" "0" "96601" "0" "c.*95023G>A" "r.(=)" "p.(=)" "" "0000865470" "00025798" "10" "96601" "0" "96601" "0" "c.*95023G>A" "r.(=)" "p.(=)" "" "0000865471" "00025797" "50" "108971" "0" "108971" "0" "c.*107393A>C" "r.(=)" "p.(=)" "" "0000865471" "00025798" "50" "108971" "0" "108971" "0" "c.*107393A>C" "r.(=)" "p.(=)" "" "0000865472" "00025797" "30" "111447" "0" "111447" "0" "c.*109869C>T" "r.(=)" "p.(=)" "" "0000865472" "00025798" "30" "111447" "0" "111447" "0" "c.*109869C>T" "r.(=)" "p.(=)" "" "0000865473" "00025797" "30" "118707" "0" "118707" "0" "c.*117129G>A" "r.(=)" "p.(=)" "" "0000865473" "00025798" "30" "118707" "0" "118707" "0" "c.*117129G>A" "r.(=)" "p.(=)" "" "0000869484" "00002922" "70" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Asp44Asn)" "2" "0000869485" "00002922" "90" "1326" "0" "1326" "0" "c.1326del" "r.(?)" "p.(Ser443Alafs*12)" "12" "0000869486" "00002922" "90" "253" "0" "253" "0" "c.253T>C" "r.(?)" "p.(Ser85Pro)" "3" "0000869487" "00002922" "90" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Gly113Asp)" "3" "0000869488" "00002922" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424Cys)" "11" "0000871286" "00002922" "90" "-551" "-9432" "-551" "-9432" "c.-551-9432T>G" "" "" "" "0000871286" "00025797" "90" "-551" "-9432" "-551" "-9432" "c.-551-9432T>G" "" "" "" "0000871286" "00025798" "90" "-552" "5943" "-552" "5943" "c.-552+5943T>G" "" "" "" "0000894220" "00025797" "30" "903" "0" "903" "0" "c.903A>G" "r.(?)" "p.(Gly301=)" "" "0000894220" "00025798" "30" "903" "0" "903" "0" "c.903A>G" "r.(?)" "p.(Gly301=)" "" "0000917748" "00002922" "90" "588" "0" "588" "0" "c.588C>A" "r.(588c>a)" "p.(Tyr196Ter)" "6" "0000917760" "00002922" "90" "1326" "0" "1326" "0" "c.1326del" "r.(1326del)" "p.(Ser443AlafsTer12)" "12" "0000917829" "00002922" "90" "705" "-3940" "982" "2952" "c.705-3940_982+2952del" "r.(705_982del)" "p.(Ser235ArgfsTer29)" "6i_8i" "0000917841" "00002922" "70" "1024" "0" "1024" "0" "c.1024C>T" "r.(1024c>u)" "p.(Arg342Trp)" "9" "0000917857" "00002922" "90" "1212" "1" "1212" "1" "c.1212+1G>A" "r.1212_1213ins[a;1212+2_1212+13]" "p.Val405Ilefs*41" "" "0000917857" "00025797" "90" "1212" "1" "1212" "1" "c.1212+1G>A" "r.1212_1213ins[a;1212+2_1212+13]" "p.Val405Ilefs*41" "" "0000917857" "00025798" "90" "1212" "1" "1212" "1" "c.1212+1G>A" "r.1212_1213ins[a;1212+2_1212+13]" "p.Val405Ilefs*41" "" "0000917858" "00002922" "90" "275" "0" "275" "0" "c.275T>C" "r.(275u>c)" "p.(Leu92Pro)" "" "0000917858" "00025797" "90" "275" "0" "275" "0" "c.275T>C" "r.(275u>c)" "p.(Leu92Pro)" "" "0000917858" "00025798" "90" "275" "0" "275" "0" "c.275T>C" "r.(275u>c)" "p.(Leu92Pro)" "" "0000917876" "00002922" "90" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Trp)" "" "0000917877" "00002922" "90" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Thr335Met)" "" "0000917878" "00002922" "90" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Gly113Ser)" "" "0000917889" "00002922" "90" "566" "3" "566" "8" "c.566+3_566+8del" "r.spl" "p.?" "" "0000917890" "00002922" "90" "1326" "0" "1326" "0" "c.1326del" "r.(?)" "p.(Ser443AlafsTer12)" "" "0000930879" "00025797" "30" "1233" "0" "1233" "0" "c.1233C>T" "r.(?)" "p.(=)" "" "0000930879" "00025798" "30" "1233" "0" "1233" "0" "c.1233C>T" "r.(?)" "p.(=)" "" "0000958789" "00025798" "70" "1512" "0" "1531" "0" "c.1512_1531del" "r.(?)" "p.(Gln505LeufsTer3)" "" "0000969194" "00002922" "30" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Gly29=)" "" "0000969194" "00025797" "30" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Gly29=)" "" "0000969194" "00025798" "30" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Gly29=)" "" "0000969195" "00025797" "50" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Thr335Met)" "" "0000969195" "00025798" "50" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Thr335Met)" "" "0000969196" "00025797" "50" "96585" "0" "96585" "0" "c.*95007A>G" "r.(=)" "p.(=)" "" "0000969196" "00025798" "50" "96585" "0" "96585" "0" "c.*95007A>G" "r.(=)" "p.(=)" "" "0000969197" "00025797" "30" "96617" "0" "96617" "0" "c.*95039A>G" "r.(=)" "p.(=)" "" "0000969197" "00025798" "30" "96617" "0" "96617" "0" "c.*95039A>G" "r.(=)" "p.(=)" "" "0000969198" "00025797" "30" "103876" "0" "103876" "0" "c.*102298G>A" "r.(=)" "p.(=)" "" "0000969198" "00025798" "30" "103876" "0" "103876" "0" "c.*102298G>A" "r.(=)" "p.(=)" "" "0000969199" "00025797" "30" "103914" "0" "103914" "0" "c.*102336G>A" "r.(=)" "p.(=)" "" "0000969199" "00025798" "30" "103914" "0" "103914" "0" "c.*102336G>A" "r.(=)" "p.(=)" "" "0000969200" "00025797" "30" "104872" "0" "104872" "0" "c.*103294T>C" "r.(=)" "p.(=)" "" "0000969200" "00025798" "30" "104872" "0" "104872" "0" "c.*103294T>C" "r.(=)" "p.(=)" "" "0000969201" "00025797" "30" "111447" "0" "111447" "0" "c.*109869C>T" "r.(=)" "p.(=)" "" "0000969201" "00025798" "30" "111447" "0" "111447" "0" "c.*109869C>T" "r.(=)" "p.(=)" "" "0000982740" "00025797" "30" "109976" "0" "109976" "0" "c.*108398G>T" "r.(=)" "p.(=)" "" "0000982740" "00025798" "30" "109976" "0" "109976" "0" "c.*108398G>T" "r.(=)" "p.(=)" "" "0000982741" "00025797" "50" "111107" "0" "111107" "0" "c.*109529G>T" "r.(=)" "p.(=)" "" "0000982741" "00025798" "50" "111107" "0" "111107" "0" "c.*109529G>T" "r.(=)" "p.(=)" "" "0001003618" "00025797" "30" "105179" "0" "105179" "0" "c.*103601T>C" "r.(=)" "p.(=)" "" "0001003618" "00025798" "30" "105179" "0" "105179" "0" "c.*103601T>C" "r.(=)" "p.(=)" "" "0001015607" "00025797" "50" "96698" "0" "96698" "0" "c.*95120A>G" "r.(=)" "p.(=)" "" "0001015607" "00025798" "50" "96698" "0" "96698" "0" "c.*95120A>G" "r.(=)" "p.(=)" "" "0001015608" "00025797" "30" "103897" "0" "103897" "0" "c.*102319G>A" "r.(=)" "p.(=)" "" "0001015608" "00025798" "30" "103897" "0" "103897" "0" "c.*102319G>A" "r.(=)" "p.(=)" "" "0001027047" "00025797" "10" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Arg385His)" "" "0001027047" "00025798" "10" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Arg385His)" "" "0001027048" "00025797" "30" "96721" "0" "96721" "0" "c.*95143T>G" "r.(=)" "p.(=)" "" "0001027048" "00025798" "30" "96721" "0" "96721" "0" "c.*95143T>G" "r.(=)" "p.(=)" "" "0001027049" "00025797" "30" "103914" "0" "103914" "0" "c.*102336G>A" "r.(=)" "p.(=)" "" "0001027049" "00025798" "30" "103914" "0" "103914" "0" "c.*102336G>A" "r.(=)" "p.(=)" "" "0001027050" "00025797" "70" "106048" "0" "106048" "0" "c.*104470A>G" "r.(=)" "p.(=)" "" "0001027050" "00025798" "70" "106048" "0" "106048" "0" "c.*104470A>G" "r.(=)" "p.(=)" "" "0001042133" "00025797" "30" "104064" "0" "104064" "0" "c.*102486G>A" "r.(=)" "p.(=)" "" "0001042133" "00025798" "30" "104064" "0" "104064" "0" "c.*102486G>A" "r.(=)" "p.(=)" "" "0001042134" "00025797" "50" "106069" "0" "106069" "0" "c.*104491C>T" "r.(=)" "p.(=)" "" "0001042134" "00025798" "50" "106069" "0" "106069" "0" "c.*104491C>T" "r.(=)" "p.(=)" "" "0001046667" "00025797" "50" "96653" "0" "96653" "0" "c.*95075A>G" "r.(=)" "p.(=)" "" "0001046667" "00025798" "50" "96653" "0" "96653" "0" "c.*95075A>G" "r.(=)" "p.(=)" "" "0001056155" "00025797" "70" "104012" "0" "104018" "0" "c.*102434_*102440del" "r.(=)" "p.(=)" "" "0001056155" "00025798" "70" "104012" "0" "104018" "0" "c.*102434_*102440del" "r.(=)" "p.(=)" "" "0001056156" "00025797" "50" "105163" "0" "105163" "0" "c.*103585T>G" "r.(=)" "p.(=)" "" "0001056156" "00025798" "50" "105163" "0" "105163" "0" "c.*103585T>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000250753" "0000580092" "0000250754" "0000580091" "0000310097" "0000685008" "0000310661" "0000685582" "0000310662" "0000685583" "0000310663" "0000685584" "0000412220" "0000869484" "0000412221" "0000869485" "0000412222" "0000869486" "0000412222" "0000869487" "0000412223" "0000869488" "0000413751" "0000871286" "0000432338" "0000917748" "0000432338" "0000917829" "0000432350" "0000917760" "0000432350" "0000917841" "0000432397" "0000917857" "0000432397" "0000917858" "0000432409" "0000917876" "0000432409" "0000917889" "0000432410" "0000917877" "0000432410" "0000917890" "0000432411" "0000917878" "0000449022" "0000958789"