### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AARS) # 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}}" "AARS" "alanyl-tRNA synthetase" "16" "q22" "unknown" "LRG_359" "UD_132118217162" "" "https://www.LOVD.nl/AARS" "" "1" "20" "16" "601065" "1" "1" "1" "1" "NOTE: gene name changed from AARS to AARS1\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/AARS_codingDNA.html" "1" "" "NOTE: gene name changed from AARS to AARS1" "-1" "" "-1" "00001" "2011-07-21 00:00:00" "00006" "2020-12-18 13:45:49" "00000" "2026-01-20 18:57:21" ## 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}}" "00001834" "AARS" "alanyl-tRNA synthetase" "001" "NM_001605.2" "" "NP_001596.2" "" "" "" "-110" "3234" "2907" "70323412" "70286297" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "01749" "HDLS" "leukoencephalopathy, diffuse hereditary, with spheroid (HDLS)" "AD" "221820" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03301" "CMT2N" "Charcot-Marie-Tooth disease, type 2N (CMT2N)" "AD" "613287" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-02-02 17:08:05" "04342" "DEE29" "encephalopathy, developmental and epileptic, type 29 (DEE29)" "AR" "616339" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2020-12-18 13:48:43" "05106" "MPD" "myopathy, distal (MPD)" "" "" "" "" "" "00006" "2015-12-08 01:43:19" "" "" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05122" "HSN" "neuropathy, sensory, hereditary (HSN)" "" "" "" "" "" "00006" "2016-01-24 01:36:12" "00006" "2020-04-22 19:42:45" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AARS" "03301" "AARS" "04342" ## Individuals ## Do not remove or alter this header ## ## Count = 78 "{{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}}" "00034595" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034596" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034597" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034598" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034599" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034600" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034601" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034602" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00034603" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050079" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00050216" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00117852" "" "" "" "1" "" "02057" "" "" "" "" "" "" "0" "" "" "" "" "00117853" "" "" "" "1" "" "02057" "" "" "" "" "" "" "0" "" "" "" "" "00117854" "" "" "" "1" "" "02057" "" "" "" "" "" "" "0" "" "" "" "" "00208547" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00218991" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat1" "00263911" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00269336" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00281786" "" "" "" "1" "" "03752" "{PMID:Sevy 2016:25783436}, {PMID:Cerino 2020:32934002}" "" "F" "" "France" "" "0" "" "" "" "Pat6" "00291535" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291536" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299982" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-AARS-a" "00300032" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300033" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300132" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-AARS-b" "00300142" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-AARS-c" "00300152" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-AARS-d" "00300155" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-AARS-e" "00304532" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00317968" "" "" "" "1" "" "01428" "" "" "F" "" "" "" "" "" "" "" "" "00324592" "" "" "" "3" "" "00006" "{PMID:Weterman 2018:30124830}" "5-generation family, 3 affected (3F)" "F" "" "" "" "0" "" "" "" "FamH09PatIII1" "00324593" "" "" "00324592" "1" "" "00006" "{PMID:Weterman 2018:30124830}" "" "F" "" "" "" "0" "" "" "" "FamH09PatIV" "00324594" "" "" "" "6" "" "00006" "{PMID:Weterman 2018:30124830}" "4-generation family, 6 affected (2F, 4M)" "M" "" "" "" "0" "" "" "" "FamH19PatIII3" "00324595" "" "" "00324594" "1" "" "00006" "{PMID:Weterman 2018:30124830}" "" "F" "" "" "" "0" "" "" "" "FamH19PatIII4" "00324596" "" "" "00324594" "1" "" "00006" "{PMID:Weterman 2018:30124830}" "" "M" "" "" "" "0" "" "" "" "FamH19PatIV1" "00324597" "" "" "00324594" "1" "" "00006" "{PMID:Weterman 2018:30124830}" "" "M" "" "" "" "0" "" "" "" "FamH19PatIV2" "00324598" "" "" "00324594" "1" "" "00006" "{PMID:Weterman 2018:30124830}" "" "F" "" "" "" "0" "" "" "" "FamH19PatIV3" "00324599" "" "" "00324594" "1" "" "00006" "{PMID:Weterman 2018:30124830}" "" "M" "" "" "" "0" "" "" "" "FamH19PatIV5" "00324600" "" "" "" "11" "" "00006" "{PMID:Weterman 2018:30124830}" "5-generation family, 11 affected (7F, 4M)" "F" "" "" "" "0" "" "" "" "FamL21PatII7" "00324601" "" "" "00324600" "1" "" "00006" "{PMID:Weterman 2018:30124830}" "" "M" "" "" "" "0" "" "" "" "FamL21PatII10" "00324602" "" "" "00324600" "1" "" "00006" "{PMID:Weterman 2018:30124830}" "" "F" "" "" "" "0" "" "" "" "FamL21PatII13" "00324603" "" "" "00324600" "1" "" "00006" "{PMID:Weterman 2018:30124830}" "" "M" "" "" "" "0" "" "" "" "FamL21PatII4" "00324604" "" "" "00324600" "1" "" "00006" "{PMID:Weterman 2018:30124830}" "" "F" "" "" "" "0" "" "" "" "FamL21PatIII48" "00324605" "" "" "00324600" "1" "" "00006" "{PMID:Weterman 2018:30124830}" "" "F" "" "" "" "0" "" "" "" "FamL21PatIII46" "00324606" "" "" "00324600" "1" "" "00006" "{PMID:Weterman 2018:30124830}" "" "F" "" "" "" "0" "" "" "" "FamL21PatIII35" "00324607" "" "" "" "23" "" "00006" "{PMID:Latour 2010:20045102}" "4-generation family, 23 affected" "" "" "France" "" "0" "" "" "" "Fam1PatIII1" "00324608" "" "" "" "5" "" "00006" "{PMID:Latour 2010:20045102}" "3-generation family, 5 affected" "" "" "France" "" "0" "" "" "" "Fam2PatII1" "00324609" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIII3" "00324610" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIII5" "00324611" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIII6" "00324612" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV1" "00324613" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV2" "00324614" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV3" "00324615" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV4" "00324616" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV5" "00324617" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV7" "00324618" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV8" "00324619" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV9" "00324620" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV10" "00324621" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV11" "00324622" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV12" "00324623" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV13" "00324624" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatIV16" "00324625" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatV1" "00324626" "" "" "00324607" "1" "" "00006" "{PMID:Latour 2010:20045102}" "" "" "" "France" "" "0" "" "" "" "Fam1PatV2" "00324627" "" "" "00324607" "9" "" "00006" "{PMID:McLaughlin 2012:22009580}" "4-generation family, 9 affected" "" "" "Australia" "" "0" "" "" "" "Fam1CMT243" "00324628" "" "" "00324607" "4" "" "00006" "{PMID:McLaughlin 2012:22009580}" "3-generation family, 4 affected" "" "" "Australia" "" "0" "" "" "" "FamCMT513" "00324629" "" "" "" "8" "" "00006" "{PMID:McLaughlin 2012:22009580}" "" "" "" "Australia" "" "0" "" "" "" "controls" "00324630" "" "" "" "2" "" "00006" "{PMID:McLaughlin 2012:22009580}" "" "" "" "Australia" "" "0" "" "" "" "controls" "00324631" "" "" "" "11" "" "00006" "{PMID:McLaughlin 2012:22009580}" "" "" "" "Australia" "" "0" "" "" "" "controls" "00324632" "" "" "" "12" "" "00006" "{PMID:McLaughlin 2012:22009580}" "" "" "" "Australia" "" "0" "" "" "" "controls" "00324633" "" "" "" "7" "" "00006" "{PMID:Lin 2011:232206013}" "3-generation family, 7 affected (4F, 3M)" "" "" "Taiwan" "" "0" "" "" "" "family" "00374639" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1334" "00390053" "" "" "" "10" "" "04197" "{PMID:Sundal 2019:31775912}" "large 4-generation family including 25 individuals from generation IV (23 unaffected); 10 affected (5F, 5M), 2 affacted individuals analysed" "M" "no" "Sweden" "57y" "0" "yes" "" "" "IV-33" "00398499" "" "" "" "3" "" "04212" "{PMID:Lassuthova 2018:30028002}" "2-generation family, 3 affected sibs (2F, M), unaffected parents" "M" "likely" "" ">18y" "0" "" "" "Kurdistan" "FamEPatII:1" "00399017" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P45" "00426106" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "11MS3400" "00470373" "" "" "" "1" "" "00006" "{PMID:Wai 2020:32123317}" "studied effect of variant on RNA" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 68 "{{individualid}}" "{{diseaseid}}" "00050079" "00199" "00050216" "00198" "00117852" "05113" "00117853" "05113" "00117854" "05113" "00218991" "05113" "00263911" "00199" "00269336" "00198" "00281786" "05106" "00291535" "00198" "00291536" "00198" "00299982" "05113" "00300032" "05384" "00300033" "05122" "00300132" "05384" "00300142" "05384" "00300152" "05384" "00300155" "05384" "00304532" "00198" "00317968" "00198" "00324592" "05113" "00324593" "05113" "00324594" "05113" "00324595" "05113" "00324596" "05113" "00324597" "05113" "00324598" "05113" "00324599" "05113" "00324600" "05113" "00324601" "05113" "00324602" "05113" "00324603" "05113" "00324604" "05113" "00324605" "05113" "00324606" "05113" "00324607" "05113" "00324608" "05113" "00324609" "05113" "00324610" "05113" "00324611" "05113" "00324612" "05113" "00324613" "05113" "00324614" "05113" "00324615" "05113" "00324616" "05113" "00324617" "05113" "00324618" "05113" "00324619" "05113" "00324620" "05113" "00324621" "05113" "00324622" "05113" "00324623" "05113" "00324624" "05113" "00324625" "05113" "00324626" "05113" "00324627" "05113" "00324628" "05113" "00324629" "00000" "00324630" "00000" "00324631" "00000" "00324632" "00000" "00324633" "05113" "00374639" "00198" "00390053" "01749" "00398499" "05113" "00399017" "05618" "00426106" "00139" "00470373" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00199, 01749, 03301, 04342, 05106, 05113, 05122, 05384, 05618 ## Count = 59 "{{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}}" "0000036828" "00198" "00050216" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000093240" "05113" "00117852" "02057" "-" "" "Dominant, axonal, peripheral neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000093241" "05113" "00117853" "02057" "-" "" "Dominant, axonal, peripheral neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000093242" "05113" "00117854" "02057" "-" "" "Dominant, axonal Charcot-Marie-Tooth disease" "" "" "" "" "" "" "" "" "" "" "" "0000157219" "00198" "00208547" "01164" "Unknown" "" "HP:0001761 (Pes cavus)" "" "" "" "" "" "" "" "" "" "" "" "0000167548" "05113" "00218991" "00006" "Unknown" "" "CMT2N, HMN; no family history" "" "" "" "" "" "" "" "" "CMT-2N" "Charcot-Marie-Tooth diseae" "" "0000207168" "00198" "00269336" "01164" "Unknown" "" "Pes cavus (HP:0001761); Distal amyotrophy (HP:0003693)" "" "" "" "" "" "" "" "" "" "" "" "0000216367" "05106" "00281786" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "distal myopathy" "" "0000227303" "05113" "00299982" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227353" "05384" "00300032" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "mixed inherited peripheral neuropathy" "" "0000227354" "05122" "00300033" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hereditary sensory neuropathy" "" "0000227453" "05384" "00300132" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "mixed inherited peripheral neuropathy" "" "0000227463" "05384" "00300142" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "mixed inherited peripheral neuropathy" "" "0000227473" "05384" "00300152" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "mixed inherited peripheral neuropathy" "" "0000227476" "05384" "00300155" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "mixed inherited peripheral neuropathy" "" "0000241753" "00198" "00317968" "01428" "Familial, autosomal recessive" "" "HP:0001399\r\nHP:0000252\r\nHP:0100543\r\nHP:0011344\r\nHP:0000486\r\nHP:0006829\r\nHP:0001508" "" "" "" "" "" "" "" "" "" "ORPHA:90062 Liver failure" "" "0000243101" "05113" "00324592" "00006" "Familial, autosomal dominant" "50y" "distal atrophy and paresis arms (MRC grade 3) and legs (MRC 1–2); weakness quadriceps MRC 4; flat feet; distal sensory disturbances arms and legs; impaired joint position sense hallux, absent vibration sense of the legs; areflexia; EMG left ulnar motor nerve conduction velocity forearm 43 m/s (abductor digiti minimi muscle); right ulnar motor nerve conduction velocity forearm 41 m/s. No compound muscle action potentials recordable of median (abductor pollicis brevis muscle), peroneal (extensor digitorum brevis muscle) and tibial (abductor hallucis brevis muscle) nerves. No sensory nerve action potentials recordable of right median (2nd finger), left ulnar (5th finger) and right sural (lateral malleolus) nerves. Signs of denervation and reinnervation in predominantly distal leg and arm muscles; conclusion severe axonal sensorimotor polyneuropathy." "30y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243102" "05113" "00324593" "00006" "Familial, autosomal dominant" "26y" "calf hypertrophy, paresis anterior tibial and peroneal muscles (MRC 4), pes cavus, decreased vibration sense hallux, absent Achilles tendon jerks; EMG right median motor nerve conduction velocity forearm 39 m/s, left ulnar motor nerve conduction velocity forearm 52 m/s. No or very low compound muscle action potential amplitudes peroneal (extensor digitorum brevis muscle) both sides and left tibial (abductor hallucis brevis muscle) nerve. Decreased or no sensory nerve action potential amplitudes right median, left ulnar and right sural with decreased sensory nerve conduction velocitys. No denervation, signs of reinnervation in predominantly distal leg muscles; conclusion severe axonal sensorimotor polyneuropathy." "" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243103" "05113" "00324594" "00006" "Familial, autosomal dominant" "62y" "atrophy lower legs, paralysis anterior tibialis muscles and toe extensors, paresis MRC 4 calf muscles, flat feet, distal sensory disturbances of the legs, decreased vibration sense of the feet, impaired joint position hallux, absent Achilles tendon jerks; EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 34 m/s; left ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 40 m/s. No recordable compound muscle action potentials peroneal both sides, extensor digitorum brevis muscle) and tibial (abductor hallucis brevis muscle) nerves. No recordable sensory nerve action potentials right median (2nd finger), left ulnar (5th finger) and right sural nerve (lateral malleolus). Signs of reinnervation in the predominantly distal leg and arm muscles; conclusion severe sensorimotor polyneuropathy with axonal and demyelinating features." "7y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243104" "05113" "00324595" "00006" "Familial, autosomal dominant" "65y" "paralysis feet, otherwise no examination performed; EMG median motor nerve conduction velocitys forearm left 11 m/s and right 17 m/s, although with very low compound muscle action potential amplitudes (abductor pollicis brevis muscle) both sides; Ulnar motor nerve conduction velocity forearm both sides 40 m/s, upper arm left 32 m/s and right 35 m/s with relatively normal compound muscle action potential amplitudes (abductor digiti minimi muscle). Very low to non-recordable sensory nerve action potential amplitudes in arms and legs. Signs of de- and reinnervation in predominantly distal arm muscles (legs not assessed); conclusion severe sensorimotor polyneuropathy with axonal and demyelinating features" "17y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243105" "05113" "00324596" "00006" "Familial, autosomal dominant" "30y" "onset early childhood; atrophy and weakness MRC 4+ of distal leg muscles, pes cavus and hammer toes, slight sensory disturbances of the distal legs, decreased Achilles tendon jerks; EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 38 m/s; left ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 42 m/s. No compound muscle action potentials recordable left peroneal (extensor digitorum brevis muscle); decreased left compound muscle action potential amplitude of abductor hallucis brevis muscle muscle with decreased motor nerve conduction velocity. No sensory nerve action potentials recordable in arms and legs. No needle-EMG available; conclusion severe sensorimotor polyneuropathy with axonal and demyelinating features." "" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243106" "05113" "00324597" "00006" "Familial, autosomal dominant" "26y" "weakness (MRC 4) of the distal arm and leg muscles. No foot deformities, no sensory disturbances, absent Achilles tendon jerks, extensor plantar response on the left; EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 40 m/s; left ulnar motor nerve conduction velocity (abductor digiti quinti muscle) forearm 39 m/s. No compound muscle action potentials recordable from the peroneal (both sides) and left tibial nerve. Very low to non-recordable sensory nerve action potentials in the arms and legs. Signs of reinnervation in distal and proximal arm and leg muscles; conclusion severe sensorimotor axonal polyneuropathy." "" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243107" "05113" "00324598" "00006" "Familial, autosomal dominant" "23y" "EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 37 m/s; left ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 35 m/s; upper arm 50 m/s. No compound muscle action potentials peroneal (both sides) and left tibial nerve. Very low to non-recordable sensory nerve action potentials in arms and legs. Signs of denervation in the distal leg muscles and signs of reinnervation in distal and proximal arm and leg muscles; conclusion severe sensorimotor polyneuropathy with axonal and demyelinating features." "" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243108" "05113" "00324599" "00006" "Familial, autosomal dominant" "38y" "atrophy and weakness distal legs (MRC 4), pes cavus, hammer toes and contractures Achilles tendons, decreased vibration sense hallux, absent Achilles tendon jerks, extensor plantar response on the right; EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 39 m/s; left ulnar motor nerve conduction velocity (abductor digiti quinti muscle) forearm 46 m/s. Very low to non-recordable compound muscle action potentials peroneal (extensor digitorum brevis muscle) both sides, left tibial (abductor hallucis brevis muscle) nerve. Very low to non-recordable sensory nerve action potentials of right median (2nd finger), left ulnar (5th finger) and right sural nerve (lateral malleolus). Signs of denervation and reinnervation in predominantly distal leg and arm muscles; conclusion severe sensorimotor axonal polyneuropathy." "35y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243109" "05113" "00324600" "00006" "Familial, autosomal dominant" "65y" "bilateral paresis foot extensors (MRC 4), pes cavus, hypesthesia of left lower leg, absent Achilles and knee tendon reflexes at both sides; EMG near normal conduction studies of median and ulnar nerves. No recordable compound muscle action potentials and sensory nerve action potentials in distal legs; conclusion severe sensorimotor axonal polyneuropathy." "60y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243110" "05113" "00324601" "00006" "Familial, autosomal dominant" "62y" "onset childhood; distal paresis (MRC 3-4),hypotonic feet, steppage gait, no sensory complaints, absent Achilles tendon jerks" "" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243111" "05113" "00324602" "00006" "Familial, autosomal dominant" "62y" "distal paresis, atrophy of lower legs, steppage gait, no sensory disturbances, nystagmus, reflexes arms normal to brisk, absent Achilles tendon jerks, brisk knee tendon reflex, originally diagnosed with multiple sclerosis; EMG documented as severe sensorimotor axonal polyneuropathy, no recordings available" "29y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243112" "05113" "00324603" "00006" "Familial, autosomal dominant" "70y" "diffuse paresis of feet (MRC2-3), steppage gait, hypotonic feet, absent Achilles tendon jerks" "10y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243113" "05113" "00324604" "00006" "Familial, autosomal dominant" "50y" "no paresis (MRC5), no sensory disturbances, complaints of pain in legs and cramps in feet, reflexes normal, right ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 58 m/s, very low compound muscle action potential amplitudes right peroneal nerve (extensor digitorum brevis muscle) and low compound muscle action potential amplitudes left tibial nerve (abductor hallucis brevis muscle) with reduced motor nerve conduction velocity; EMG non-recordable sensory nerve action potential sural nerve (lateral malleolus) both sides and reduced sensory nerve action potential amplitude right radial nerve (thumb). No signs of denervation or reinnervation in distal leg and arm muscles; conclusion sensorimotor axonal polyneuropathy" "30y-40y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243114" "05113" "00324605" "00006" "Familial, autosomal dominant" "42y" "distal paresis, specifically toe extensors, foot drop, steppage gait, pes cavus, no sensory disturbances, decreased deep tendon reflexes, no Achilles tendon jerks (both sides) or knee jerk (right); EMG no recordable compound muscle action potentials in distal legs and very low sensory nerve action potential amplitude sural nerve (lateral malleolus); conclusion severe sensorimotor axonal polyneuropathy." "35y-40y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243115" "05113" "00324606" "00006" "Familial, autosomal dominant" "49y" "diffuse paresis of psoas foot extensors MRC 4), toe extensors and extensors hallicus (MRC 3 (right), MRC 4 (left)), pes cavus, no vibration sense toes, absent Achilles tendon jerks, other reflexes brisk; EMG right ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 51 m/s. Non-recordable compound muscle action potentials right peroneal (extensor digitorum brevis muscle) and left tibial (abductor hallucis brevis muscle) nerves. Non-recordable sensory nerve action potential left sural nerve (lateral malleolus). Signs of reinnervation in distal leg muscle; conclusion severe sensorimotor axonal polyneuropathy" "44y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243116" "05113" "00324607" "00006" "Familial, autosomal dominant" "77y" "first signs lower limbs before upper limbs, repeated ankle sprains; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 32.4m/s" ">50y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243117" "05113" "00324608" "00006" "Familial, autosomal dominant" "32y" "first signs lower limbs before upper limbs, walking difficulties; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 35-39m/s" "14y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243118" "05113" "00324609" "00006" "Familial, autosomal dominant" "71y" "first signs lower limbs before upper limbs, lower limbs weakness; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs and upper limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 35m/s" "50y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243119" "05113" "00324610" "00006" "Familial, autosomal dominant" "67y" "first signs repeated ankle sprains; weakness distal, lower limbs and upper limbs, sensory loss distal, lower limbs and upper limbs, reflex lost distal, lower limbs and upper limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 35.7m/s" "15y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243120" "05113" "00324611" "00006" "Familial, autosomal dominant" "61y" "first signs lower limbs before upper limbs, walking difficulties; weakness distal, lower limbs and upper limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; 56y-walk with stick ; electroneuromyography motor and sensory alteration" "17y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243121" "05113" "00324612" "00006" "Familial, autosomal dominant" "50y" "asymptomatic; electroneuromyography normal" "" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243122" "05113" "00324613" "00006" "Familial, autosomal dominant" "54y" "first signs lower limbs before upper limbs, mild distal lower limbs amyotrophy; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 45.7m/s" "54y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243123" "05113" "00324614" "00006" "Familial, autosomal dominant" "47y" "first signs lower limbs before upper limbs, foot deformation; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 40.8m/s" "45y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243124" "05113" "00324615" "00006" "Familial, autosomal dominant" "49y" "first signs repeated ankle sprains; weakness distal, lower limbs and upper limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs and upper limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 50m/s" "45y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243125" "05113" "00324616" "00006" "Familial, autosomal dominant" "54y" "first signs lower limbs before upper limbs, repeated ankle sprains; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 45m/s" "6y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243126" "05113" "00324617" "00006" "Familial, autosomal dominant" "38y" "first signs lower limbs before upper limbs, pain and lower limbs weakness; weakness distal, lower limbs, no sensory loss distal,, reflex lost distal, lower limbs and upper limbs; 40y-walk with stick, 42y-wheelchair bound ; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 44.5m/s" "26y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243127" "05113" "00324618" "00006" "Familial, autosomal dominant" "30y" "asymptomatic; electroneuromyography normal" "" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243128" "05113" "00324619" "00006" "Familial, autosomal dominant" "32y" "first signs lower limbs before upper limbs, lower limbs and hand weakness; weakness distal, lower limbs and upper limbs, sensory loss distal, lower limbs and upper limbs, reflex lost distal, lower limbs and upper limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 36.5m/s" "18y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243129" "05113" "00324620" "00006" "Familial, autosomal dominant" "30y" "first signs lower limbs before upper limbs, repeated ankle sprains; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration" "10y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243130" "05113" "00324621" "00006" "Familial, autosomal dominant" "41y" "first signs lower limbs before upper limbs, repeated ankle sprains; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs and upper limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 40.5m/s" "25y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243131" "05113" "00324622" "00006" "Familial, autosomal dominant" "41y" "first signs lower limbs before upper limbs, lower limbs weakness; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration" "" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243132" "05113" "00324623" "00006" "Familial, autosomal dominant" "32y" "first signs lower limbs weakness; weakness distal, lower limbs and upper limbs, no sensory loss distal,, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 42.4m/s" "25y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243133" "05113" "00324624" "00006" "Familial, autosomal dominant" "34y" "first signs lower limbs before upper limbs, cramps in lower limbs; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 43.5m/s" "22y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243134" "05113" "00324625" "00006" "Familial, autosomal dominant" "9y" "asymptomatic; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 46m/s" "" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243135" "05113" "00324626" "00006" "Familial, autosomal dominant" "28y" "first signs lower limbs before upper limbs, repeated ankle sprains; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs and upper limbs; ambulant" "15y" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243136" "05113" "00324627" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243137" "05113" "00324628" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000243138" "05113" "00324633" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT2N" "Charcot-Marie-Tooth disease" "" "0000269849" "00198" "00374639" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "myopathy, neuropathy" "" "0000283592" "01749" "00390053" "04197" "Familial, autosomal dominant" "46y-57y" "Briefly, at age 46 this previously healthy manual worker suffered a progressive personality change (HP:0000751) with striking passivity and loss of responsibility at work and at home. At his first examination half a year after onset we observed a debilitating frontal syndrome with total loss of insight, along with discrete pyramidal (HP:0007256) and deep sensory signs. During the subsequent 2 years he was in a permanent hyperactive state (HP:0000752), incessantly walking, opening cupboards or clapping his hands, still with only moderate motor, sensory and extrapyramidal signs (HP:0002071). In the fourth year of his disease he had developed complete hemianopia (HP:0012377), and showed gradually increasing rigidity (HP:0002063) in all extremities, as well as primitive brain stem and grasp reflexes (HP:0002476). For 6 years he remained in a vegetative state (HP:0031358) with a general decortical type of rigidity, a weak doll’s eye reaction and spontaneous respiration of Cheyne-Stokes type (HP:0012196) until he succumbed from respiratory infections at 57 years of age. Five consecutive MRI examinations up to 26 months disease duration with DTI showed a symmetric leukoencephalopathy (HP:0002352) with an unusual feature, a progressive rim of decreased diffusion expanding centrifugally through the white matter from the periventricular area of the frontal and occipital horns, leaving apparently disorganized tissue behind the rim." "46y" "" "" "" "" "" "" "" "HDLS" "" "" "0000291626" "05113" "00398499" "04212" "Familial, autosomal recessive" "18y" "Birth-ocular disease; glaucoma (HP:0000501); 3/4y-foot deformity (HP:000160); gait disturbance (HP:0001288); \r\n\r\n distal lower limb muscle weakness (HP:0009053); no UL-hand muscle atrophy (-HP:0009130); muscle atrophy, lower limb, distal (HP:0008944); pes cavus (HP:0001761); 11y- hammertoe (HP:0001765); no scoliosis (-HP:0002650)" "" "03y" "3/4y-foot deformity (HP:000160); gait disturbance (HP:0001288)" "" "" "" "" "" "CMT4B2" "Charcot-Marie-Tooth disease" "" "0000292105" "05618" "00399017" "00006" "Unknown" "" "distal muscle weakness, pes cavus" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000317256" "00139" "00426106" "00006" "Familial, autosomal recessive" "6y" "" "" "" "" "" "" "" "" "" "DEE29" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 78 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000034665" "00034595" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034666" "00034596" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034667" "00034597" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034668" "00034598" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034669" "00034599" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034670" "00034600" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034671" "00034601" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034672" "00034602" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000034673" "00034603" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050005" "00050079" "1" "01364" "01364" "2015-09-18 10:12:38" "00006" "2019-08-31 15:40:48" "SEQ" "DNA" "Blood" "" "0000050161" "00050216" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000118315" "00117852" "1" "02057" "02057" "2011-07-26 22:12:28" "" "" "SEQ" "DNA" "" "" "0000118316" "00117853" "1" "02057" "02057" "2011-07-26 22:03:53" "" "" "SEQ" "DNA" "" "" "0000118317" "00117854" "1" "02057" "02057" "2011-07-26 22:15:32" "" "" "SEQ" "DNA" "" "" "0000209595" "00208547" "1" "01164" "01164" "2018-12-10 11:04:35" "" "" "SEQ-NG" "DNA" "" "" "0000220063" "00218991" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000265021" "00263911" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000270478" "00269336" "1" "01164" "01164" "2019-11-20 18:18:12" "" "" "SEQ-NG-S" "DNA" "" "" "0000282932" "00281786" "1" "00006" "00006" "2020-02-02 16:37:05" "" "" "SEQ;SEQ-NG" "DNA" "" "298 gene panel neuromuscular disease" "0000292703" "00291535" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292704" "00291536" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301098" "00299982" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301148" "00300032" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301149" "00300033" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301248" "00300132" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301258" "00300142" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301268" "00300152" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301271" "00300155" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000305661" "00304532" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319151" "00317968" "1" "01428" "01428" "2020-11-05 09:47:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000325791" "00324592" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325792" "00324593" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325793" "00324594" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325794" "00324595" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325795" "00324596" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325796" "00324597" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325797" "00324598" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325798" "00324599" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325799" "00324600" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325800" "00324601" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325801" "00324602" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325802" "00324603" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325803" "00324604" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325804" "00324605" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325805" "00324606" "1" "00006" "00006" "2020-12-20 14:20:17" "" "" "SEQ" "DNA" "" "" "0000325806" "00324607" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325807" "00324608" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325808" "00324609" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325809" "00324610" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325810" "00324611" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325811" "00324612" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325812" "00324613" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325813" "00324614" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325814" "00324615" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325815" "00324616" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325816" "00324617" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325817" "00324618" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325818" "00324619" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325819" "00324620" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325820" "00324621" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325821" "00324622" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325822" "00324623" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325823" "00324624" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325824" "00324625" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325825" "00324626" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325826" "00324627" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325827" "00324628" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325828" "00324629" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325829" "00324630" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325830" "00324631" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325831" "00324632" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "" "0000325832" "00324633" "1" "00006" "00006" "2020-12-20 15:38:25" "" "" "SEQ" "DNA" "" "gene panel" "0000375833" "00374639" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000391294" "00390053" "1" "04197" "04197" "2021-11-09 16:20:57" "00006" "2021-11-10 09:01:12" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000399745" "00398499" "1" "04212" "04212" "2022-01-05 15:41:42" "00006" "2022-01-06 15:21:11" "SEQ" "DNA" "" "" "0000400262" "00399017" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000427426" "00426106" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472040" "00470373" "1" "00006" "00006" "2025-12-04 10:36:21" "" "" "RT-PCR;SEQ" "DNA;RNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 70 "{{screeningid}}" "{{geneid}}" "0000034665" "AARS" "0000034666" "AARS" "0000034667" "AARS" "0000034668" "AARS" "0000034669" "AARS" "0000034670" "AARS" "0000034671" "AARS" "0000034672" "AARS" "0000034673" "AARS" "0000050005" "AARS" "0000050161" "AARS" "0000118315" "AARS" "0000118316" "AARS" "0000118317" "AARS" "0000220063" "AARS" "0000265021" "AARS" "0000282932" "AARS" "0000301098" "AARS" "0000301148" "AARS" "0000301149" "AARS" "0000301248" "AARS" "0000301258" "AARS" "0000301268" "AARS" "0000301271" "AARS" "0000325791" "AARS" "0000325792" "AARS" "0000325793" "AARS" "0000325794" "AARS" "0000325795" "AARS" "0000325796" "AARS" "0000325797" "AARS" "0000325798" "AARS" "0000325799" "AARS" "0000325800" "AARS" "0000325801" "AARS" "0000325802" "AARS" "0000325803" "AARS" "0000325804" "AARS" "0000325805" "AARS" "0000325806" "AARS" "0000325807" "AARS" "0000325808" "AARS" "0000325809" "AARS" "0000325810" "AARS" "0000325811" "AARS" "0000325812" "AARS" "0000325813" "AARS" "0000325814" "AARS" "0000325815" "AARS" "0000325816" "AARS" "0000325817" "AARS" "0000325818" "AARS" "0000325819" "AARS" "0000325820" "AARS" "0000325821" "AARS" "0000325822" "AARS" "0000325823" "AARS" "0000325824" "AARS" "0000325825" "AARS" "0000325826" "AARS" "0000325827" "AARS" "0000325828" "AARS" "0000325829" "AARS" "0000325830" "AARS" "0000325831" "AARS" "0000325832" "AARS" "0000375833" "AARS" "0000391294" "AARS" "0000399745" "SBF2" "0000472040" "AARS" ## 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 = 213 "{{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}}" "0000061784" "1" "10" "16" "70286550" "70286550" "subst" "0" "01164" "AARS_000008" "g.70286550T>A" "" "" "" "" "" "Germline" "" "rs11537663" "0" "" "" "g.70252647T>A" "" "benign" "" "0000061785" "1" "50" "16" "70299599" "70299599" "dup" "0" "01164" "AARS_000010" "g.70299599dup" "" "" "" "" "no impact on splice site" "Germline" "" "" "0" "" "" "g.70265696dup" "" "VUS" "" "0000061786" "1" "10" "16" "70298949" "70298949" "subst" "0.00916474" "01164" "AARS_000007" "g.70298949G>A" "" "" "" "" "no impact on AS or splicing" "Germline" "" "rs117598688" "0" "" "" "g.70265046G>A" "" "benign" "" "0000061787" "1" "50" "16" "70295184" "70295185" "ins" "0" "01164" "AARS_000006" "g.70295184_70295185insCA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70261281_70261282insCA" "" "VUS" "" "0000061788" "1" "50" "16" "70293115" "70293115" "subst" "0.000569485" "01164" "AARS_000005" "g.70293115A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70259212A>G" "" "VUS" "" "0000061789" "1" "10" "16" "70287177" "70287177" "subst" "0.822953" "01164" "AARS_000004" "g.70287177A>G" "" "" "" "" "" "Germline" "" "rs4081753" "0" "" "" "g.70253274A>G" "" "benign" "" "0000061790" "1" "10" "16" "70287177" "70287177" "subst" "0.822953" "01164" "AARS_000004" "g.70287177A>G" "" "" "" "" "" "Germline" "" "rs4081753" "0" "" "" "g.70253274A>G" "" "benign" "" "0000061791" "1" "10" "16" "70303580" "70303580" "subst" "0.465995" "01164" "AARS_000012" "g.70303580G>A" "" "" "" "" "" "Germline" "" "rs2070203" "0" "" "" "g.70269677G>A" "" "benign" "" "0000061792" "1" "50" "16" "70303356" "70303356" "subst" "0" "01164" "AARS_000011" "g.70303356G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70269453G>T" "" "VUS" "" "0000078924" "0" "70" "16" "70287883" "70287883" "subst" "0.00170572" "01364" "AARS_000034" "g.70287883T>C" "" "" "" "g.70287883A>G" "" "Unknown" "" "" "0" "" "" "g.70253980T>C" "" "likely pathogenic" "" "0000079113" "3" "90" "16" "70296388" "70296388" "subst" "0" "00006" "AARS_000009" "g.70296388C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.70262485C>T" "" "pathogenic" "" "0000194407" "0" "90" "16" "70310991" "70310991" "subst" "0" "02057" "AARS_000002" "g.70310991T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70277088T>A" "" "pathogenic" "" "0000194408" "0" "90" "16" "70302259" "70302259" "subst" "0" "02057" "AARS_000001" "g.70302259C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70268356C>T" "" "pathogenic" "" "0000194409" "0" "10" "16" "70288591" "70288591" "subst" "0" "02057" "AARS_000003" "g.70288591T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70254688T>G" "" "benign" "" "0000247367" "0" "10" "16" "70287177" "70287177" "subst" "0.822953" "02330" "AARS_000004" "g.70287177A>G" "" "" "" "AARS1(NM_001605.3):c.2715T>C (p.V905=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70253274A>G" "" "benign" "" "0000247389" "0" "30" "16" "70316567" "70316567" "subst" "4.06062E-6" "02330" "AARS_000021" "g.70316567A>G" "" "" "" "AARS1(NM_001605.3):c.100T>C (p.L34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70282664A>G" "" "likely benign" "" "0000248379" "0" "10" "16" "70287177" "70287177" "subst" "0.822953" "02325" "AARS_000004" "g.70287177A>G" "" "" "" "AARS1(NM_001605.3):c.2715T>C (p.V905=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70253274A>G" "" "benign" "" "0000256752" "0" "50" "16" "70302226" "70302226" "subst" "0.000125879" "02330" "AARS_000018" "g.70302226T>C" "" "" "" "AARS(NM_001605.2):c.1019A>G (p.N340S), AARS1(NM_001605.3):c.1019A>G (p.N340S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70268323T>C" "" "VUS" "" "0000256753" "0" "10" "16" "70299456" "70299456" "subst" "0.00150649" "02330" "AARS_000017" "g.70299456C>T" "" "" "" "AARS(NM_001605.2):c.1332G>A (p.E444=), AARS1(NM_001605.2):c.1332G>A (p.E444=), AARS1(NM_001605.3):c.1332G>A (p.E444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70265553C>T" "" "benign" "" "0000256754" "0" "10" "16" "70298949" "70298949" "subst" "0.00916474" "02330" "AARS_000007" "g.70298949G>A" "" "" "" "AARS1(NM_001605.3):c.1404C>T (p.Y468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70265046G>A" "" "benign" "" "0000256755" "0" "30" "16" "70287706" "70287706" "subst" "0.00195347" "02330" "AARS_000014" "g.70287706G>A" "" "" "" "AARS(NM_001605.2):c.2521-3C>T (p.?), AARS1(NM_001605.2):c.2521-3C>T, AARS1(NM_001605.3):c.2521-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70253803G>A" "" "likely benign" "" "0000256756" "0" "10" "16" "70286740" "70286740" "subst" "0.00770062" "02330" "AARS_000013" "g.70286740C>T" "" "" "" "AARS1(NM_001605.2):c.2791G>A (p.G931S), AARS1(NM_001605.3):c.2791G>A (p.G931S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70252837C>T" "" "benign" "" "0000256757" "0" "30" "16" "70304215" "70304215" "subst" "0.00174249" "02330" "AARS_000020" "g.70304215G>A" "" "" "" "AARS(NM_001605.2):c.700C>T (p.P234S), AARS1(NM_001605.2):c.700C>T (p.P234S), AARS1(NM_001605.3):c.700C>T (p.P234S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70270312G>A" "" "likely benign" "" "0000256758" "0" "50" "16" "70316570" "70316570" "subst" "8.1213E-6" "02330" "AARS_000022" "g.70316570G>C" "" "" "" "AARS1(NM_001605.3):c.97C>G (p.P33A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70282667G>C" "" "VUS" "" "0000256759" "0" "50" "16" "70302257" "70302257" "subst" "4.06072E-6" "02330" "AARS_000019" "g.70302257G>A" "" "" "" "AARS1(NM_001605.3):c.988C>T (p.R330*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70268354G>A" "" "VUS" "" "0000260414" "0" "30" "16" "70289732" "70289732" "subst" "0.000627173" "02326" "AARS_000016" "g.70289732G>A" "" "" "" "AARS1(NM_001605.2):c.2185C>T (p.R729W), AARS1(NM_001605.3):c.2185C>T (p.R729W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70255829G>A" "" "likely benign" "" "0000260415" "0" "70" "16" "70289666" "70289666" "subst" "4.46766E-5" "02326" "AARS_000015" "g.70289666T>C" "" "" "" "AARS1(NM_001605.2):c.2251A>G (p.R751G), AARS1(NM_001605.3):c.2251A>G (p.R751G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70255763T>C" "" "likely pathogenic" "" "0000260416" "0" "30" "16" "70287706" "70287706" "subst" "0.00195347" "02326" "AARS_000014" "g.70287706G>A" "" "" "" "AARS(NM_001605.2):c.2521-3C>T (p.?), AARS1(NM_001605.2):c.2521-3C>T, AARS1(NM_001605.3):c.2521-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70253803G>A" "" "likely benign" "" "0000260417" "0" "30" "16" "70286740" "70286740" "subst" "0.00770062" "02326" "AARS_000013" "g.70286740C>T" "" "" "" "AARS1(NM_001605.2):c.2791G>A (p.G931S), AARS1(NM_001605.3):c.2791G>A (p.G931S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70252837C>T" "" "likely benign" "" "0000324858" "0" "50" "16" "70285400" "70285400" "subst" "0.000704543" "01804" "EXOSC6_000001" "g.70285400C>T" "" "" "" "EXOSC6(NM_058219.2):c.404G>A (p.(Arg135His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70251497C>T" "" "VUS" "" "0000324859" "0" "50" "16" "70285400" "70285400" "subst" "0.0291399" "01804" "EXOSC6_000002" "g.70285400C>G" "" "" "" "EXOSC6(NM_058219.2):c.404G>C (p.(Arg135Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70251497C>G" "" "VUS" "" "0000342400" "0" "50" "16" "70304179" "70304179" "subst" "8.12183E-6" "02327" "AARS_000026" "g.70304179G>A" "" "" "" "AARS1(NM_001605.3):c.736C>T (p.R246*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70270276G>A" "" "VUS" "" "0000342647" "0" "90" "16" "70302259" "70302259" "subst" "0" "02327" "AARS_000001" "g.70302259C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70268356C>T" "" "pathogenic" "" "0000343720" "0" "50" "16" "70302226" "70302226" "subst" "0.000125879" "02327" "AARS_000018" "g.70302226T>C" "" "" "" "AARS(NM_001605.2):c.1019A>G (p.N340S), AARS1(NM_001605.3):c.1019A>G (p.N340S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70268323T>C" "" "VUS" "" "0000347133" "0" "50" "16" "70301628" "70301628" "subst" "1.2182E-5" "02327" "AARS_000025" "g.70301628G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70267725G>C" "" "VUS" "" "0000347186" "0" "50" "16" "70298936" "70298936" "subst" "0" "02327" "AARS_000024" "g.70298936G>A" "" "" "" "AARS(NM_001605.2):c.1417C>T (p.(Leu473Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70265033G>A" "" "VUS" "" "0000347725" "0" "50" "16" "70310903" "70310903" "subst" "0" "02327" "AARS_000027" "g.70310903A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70277000A>G" "" "VUS" "" "0000350675" "0" "50" "16" "70287703" "70287703" "subst" "0" "02327" "AARS_000023" "g.70287703C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70253800C>T" "" "VUS" "" "0000439754" "0" "70" "16" "70302259" "70302259" "subst" "0" "01164" "AARS_000001" "g.70302259C>T" "" "" "" "" "ACMG grading: PS3,PP1,PM2,PP5; reported in Latour P 2009. Am J Hum Genet 86: 77-82" "Germline" "" "rs267606621" "0" "" "" "g.70268356C>T" "" "likely pathogenic" "ACMG" "0000454956" "1" "70" "16" "70310990" "70310990" "subst" "4.06065E-6" "00006" "AARS_000028" "g.70310990T>C" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pm1, pm2, pm4" "Germline" "" "" "0" "" "" "g.70277087T>C" "" "likely pathogenic" "ACMG" "0000558916" "0" "30" "16" "70285776" "70285776" "subst" "0.000605311" "01804" "AARS_000029" "g.70285776C>A" "" "" "" "EXOSC6(NM_058219.2):c.28G>T (p.(Gly10Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70251873C>A" "" "likely benign" "" "0000558917" "0" "10" "16" "70286631" "70286631" "subst" "0.00992858" "02330" "AARS_000030" "g.70286631T>A" "" "" "" "AARS1(NM_001605.2):c.2900A>T (p.K967M), AARS1(NM_001605.3):c.2900A>T (p.K967M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70252728T>A" "" "benign" "" "0000558919" "0" "30" "16" "70286631" "70286631" "subst" "0.00992858" "02326" "AARS_000030" "g.70286631T>A" "" "" "" "AARS1(NM_001605.2):c.2900A>T (p.K967M), AARS1(NM_001605.3):c.2900A>T (p.K967M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70252728T>A" "" "likely benign" "" "0000558921" "0" "30" "16" "70287176" "70287176" "subst" "2.8449E-5" "01804" "AARS_000031" "g.70287176G>C" "" "" "" "AARS(NM_001605.2):c.2716C>G (p.(Pro906Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70253273G>C" "" "likely benign" "" "0000558922" "0" "30" "16" "70287211" "70287211" "subst" "1.62464E-5" "01943" "AARS_000032" "g.70287211T>C" "" "" "" "AARS(NM_001605.2):c.2681A>G (p.N894S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70253308T>C" "" "likely benign" "" "0000558923" "0" "30" "16" "70287644" "70287644" "subst" "0.000678354" "02330" "AARS_000033" "g.70287644C>T" "" "" "" "AARS1(NM_001605.3):c.2580G>A (p.L860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70253741C>T" "" "likely benign" "" "0000558924" "0" "30" "16" "70287706" "70287706" "subst" "0.00195347" "01943" "AARS_000014" "g.70287706G>A" "" "" "" "AARS(NM_001605.2):c.2521-3C>T (p.?), AARS1(NM_001605.2):c.2521-3C>T, AARS1(NM_001605.3):c.2521-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70253803G>A" "" "likely benign" "" "0000558925" "0" "10" "16" "70287883" "70287883" "subst" "0.00170572" "02330" "AARS_000034" "g.70287883T>C" "" "" "" "AARS(NM_001605.2):c.2459A>G (p.K820R), AARS1(NM_001605.2):c.2459A>G (p.K820R), AARS1(NM_001605.3):c.2459A>G (p.K820R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70253980T>C" "" "benign" "" "0000558926" "0" "30" "16" "70288560" "70288560" "subst" "0" "01804" "AARS_000035" "g.70288560G>C" "" "" "" "AARS(NM_001605.2):c.2364C>G (p.(Asn788Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70254657G>C" "" "likely benign" "" "0000558927" "0" "30" "16" "70289700" "70289700" "subst" "0.000235652" "02330" "AARS_000036" "g.70289700G>A" "" "" "" "AARS1(NM_001605.2):c.2217C>T (p.I739=), AARS1(NM_001605.3):c.2217C>T (p.I739=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70255797G>A" "" "likely benign" "" "0000558928" "0" "30" "16" "70289732" "70289732" "subst" "0.000627173" "02330" "AARS_000016" "g.70289732G>A" "" "" "" "AARS1(NM_001605.2):c.2185C>T (p.R729W), AARS1(NM_001605.3):c.2185C>T (p.R729W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70255829G>A" "" "likely benign" "" "0000558929" "0" "30" "16" "70292997" "70292997" "subst" "4.06058E-6" "01943" "AARS_000037" "g.70292997G>A" "" "" "" "AARS(NM_001605.2):c.1878C>T (p.G626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70259094G>A" "" "likely benign" "" "0000558930" "0" "50" "16" "70293064" "70293064" "subst" "0" "01943" "AARS_000038" "g.70293064T>G" "" "" "" "AARS(NM_001605.2):c.1811A>C (p.N604T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70259161T>G" "" "VUS" "" "0000558931" "0" "30" "16" "70294995" "70294995" "subst" "0.00103138" "01943" "AARS_000039" "g.70294995G>A" "" "" "" "AARS(NM_001605.2):c.1737C>T (p.I579=), AARS1(NM_001605.2):c.1737C>T (p.I579=), AARS1(NM_001605.3):c.1737C>T (p.I579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70261092G>A" "" "likely benign" "" "0000558932" "0" "30" "16" "70294995" "70294995" "subst" "0.00103138" "02326" "AARS_000039" "g.70294995G>A" "" "" "" "AARS(NM_001605.2):c.1737C>T (p.I579=), AARS1(NM_001605.2):c.1737C>T (p.I579=), AARS1(NM_001605.3):c.1737C>T (p.I579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70261092G>A" "" "likely benign" "" "0000558933" "0" "10" "16" "70295047" "70295047" "subst" "0.00527483" "02330" "AARS_000040" "g.70295047G>A" "" "" "" "AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile)), AARS1(NM_001605.2):c.1685C>T (p.T562I), AARS1(NM_001605.3):c.1685C>T (p.T562I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70261144G>A" "" "benign" "" "0000558934" "0" "30" "16" "70295047" "70295047" "subst" "0.00527483" "01804" "AARS_000040" "g.70295047G>A" "" "" "" "AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile)), AARS1(NM_001605.2):c.1685C>T (p.T562I), AARS1(NM_001605.3):c.1685C>T (p.T562I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70261144G>A" "" "likely benign" "" "0000558935" "0" "30" "16" "70295047" "70295047" "subst" "0.00527483" "02326" "AARS_000040" "g.70295047G>A" "" "" "" "AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile)), AARS1(NM_001605.2):c.1685C>T (p.T562I), AARS1(NM_001605.3):c.1685C>T (p.T562I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70261144G>A" "" "likely benign" "" "0000558936" "0" "50" "16" "70296275" "70296275" "subst" "8.12123E-6" "02327" "AARS_000041" "g.70296275C>T" "" "" "" "AARS1(NM_001605.3):c.1645G>A (p.V549M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70262372C>T" "" "VUS" "" "0000558938" "0" "10" "16" "70299420" "70299420" "subst" "0.0231099" "02330" "AARS_000043" "g.70299420T>C" "" "" "" "AARS1(NM_001605.3):c.1347+21A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70265517T>C" "" "benign" "" "0000558939" "0" "10" "16" "70299456" "70299456" "subst" "0.00150649" "01943" "AARS_000017" "g.70299456C>T" "" "" "" "AARS(NM_001605.2):c.1332G>A (p.E444=), AARS1(NM_001605.2):c.1332G>A (p.E444=), AARS1(NM_001605.3):c.1332G>A (p.E444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70265553C>T" "" "benign" "" "0000558940" "0" "30" "16" "70299456" "70299456" "subst" "0.00150649" "02326" "AARS_000017" "g.70299456C>T" "" "" "" "AARS(NM_001605.2):c.1332G>A (p.E444=), AARS1(NM_001605.2):c.1332G>A (p.E444=), AARS1(NM_001605.3):c.1332G>A (p.E444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70265553C>T" "" "likely benign" "" "0000558941" "0" "50" "16" "70301682" "70301682" "subst" "1.21819E-5" "02330" "AARS_000044" "g.70301682G>A" "" "" "" "AARS1(NM_001605.2):c.1102C>T (p.P368S), AARS1(NM_001605.3):c.1102C>T (p.P368S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70267779G>A" "" "VUS" "" "0000558942" "0" "50" "16" "70301691" "70301691" "subst" "8.12137E-6" "01943" "AARS_000045" "g.70301691T>C" "" "" "" "AARS(NM_001605.2):c.1093A>G (p.K365E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70267788T>C" "" "VUS" "" "0000558943" "0" "30" "16" "70303579" "70303579" "subst" "0.000698477" "01943" "AARS_000046" "g.70303579C>T" "" "" "" "AARS(NM_001605.2):c.904G>A (p.A302T, p.(Ala302Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70269676C>T" "" "likely benign" "" "0000558944" "0" "30" "16" "70303579" "70303579" "subst" "0.000698477" "01804" "AARS_000046" "g.70303579C>T" "" "" "" "AARS(NM_001605.2):c.904G>A (p.A302T, p.(Ala302Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70269676C>T" "" "likely benign" "" "0000558945" "0" "10" "16" "70303580" "70303580" "subst" "0.465995" "02330" "AARS_000012" "g.70303580G>A" "" "" "" "AARS1(NM_001605.3):c.903C>T (p.H301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70269677G>A" "" "benign" "" "0000558946" "0" "10" "16" "70303580" "70303580" "subst" "0.465995" "02325" "AARS_000012" "g.70303580G>A" "" "" "" "AARS1(NM_001605.3):c.903C>T (p.H301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70269677G>A" "" "benign" "" "0000558947" "0" "10" "16" "70303659" "70303659" "subst" "0.0172211" "02330" "AARS_000047" "g.70303659C>T" "" "" "" "AARS1(NM_001605.3):c.824G>A (p.G275D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70269756C>T" "" "benign" "" "0000558949" "0" "50" "16" "70304179" "70304179" "subst" "8.12183E-6" "02330" "AARS_000026" "g.70304179G>A" "" "" "" "AARS1(NM_001605.3):c.736C>T (p.R246*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70270276G>A" "" "VUS" "" "0000558950" "0" "30" "16" "70304215" "70304215" "subst" "0.00174249" "02326" "AARS_000020" "g.70304215G>A" "" "" "" "AARS(NM_001605.2):c.700C>T (p.P234S), AARS1(NM_001605.2):c.700C>T (p.P234S), AARS1(NM_001605.3):c.700C>T (p.P234S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70270312G>A" "" "likely benign" "" "0000558951" "0" "10" "16" "70305681" "70305681" "subst" "0.0174391" "02330" "AARS_000048" "g.70305681T>C" "" "" "" "AARS1(NM_001605.3):c.671+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70271778T>C" "" "benign" "" "0000558953" "0" "30" "16" "70305755" "70305755" "subst" "0.000369531" "01943" "AARS_000049" "g.70305755G>A" "" "" "" "AARS(NM_001605.2):c.600C>T (p.A200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70271852G>A" "" "likely benign" "" "0000558954" "0" "50" "16" "70305858" "70305858" "subst" "0.000174856" "02327" "AARS_000050" "g.70305858A>C" "" "" "" "AARS1(NM_001605.3):c.497T>G (p.I166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70271955A>C" "" "VUS" "" "0000558955" "0" "10" "16" "70316603" "70316603" "subst" "0.00139279" "02330" "AARS_000051" "g.70316603C>T" "" "" "" "AARS1(NM_001605.3):c.64G>A (p.E22K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70282700C>T" "" "benign" "" "0000558956" "0" "30" "16" "70316680" "70316680" "subst" "9.34283E-5" "02330" "AARS_000052" "g.70316680C>T" "" "" "" "AARS1(NM_001605.3):c.-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70282777C>T" "" "likely benign" "" "0000595604" "0" "70" "16" "70295047" "70295047" "subst" "0" "01364" "AARS_000053" "g.70295047G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000604236" "0" "70" "16" "70302259" "70302259" "subst" "0" "01164" "AARS_000001" "g.70302259C>T" "" "" "" "" "ACMG: PS3,PM2,PP1,PP5; Latour P et al. 2009. Am J Hum Genet 86: 77-82" "Germline" "" "rs267606621" "0" "" "" "g.70268356C>T" "" "likely pathogenic" "ACMG" "0000616103" "0" "30" "16" "70289732" "70289732" "subst" "0.000627173" "02325" "AARS_000016" "g.70289732G>A" "" "" "" "AARS1(NM_001605.2):c.2185C>T (p.R729W), AARS1(NM_001605.3):c.2185C>T (p.R729W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70255829G>A" "" "likely benign" "" "0000616104" "0" "30" "16" "70293036" "70293036" "subst" "4.46675E-5" "02329" "AARS_000055" "g.70293036G>A" "" "" "" "AARS1(NM_001605.3):c.1839C>T (p.F613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70259133G>A" "" "likely benign" "" "0000616105" "0" "10" "16" "70294995" "70294995" "subst" "0.00103138" "02330" "AARS_000039" "g.70294995G>A" "" "" "" "AARS(NM_001605.2):c.1737C>T (p.I579=), AARS1(NM_001605.2):c.1737C>T (p.I579=), AARS1(NM_001605.3):c.1737C>T (p.I579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70261092G>A" "" "benign" "" "0000616106" "0" "30" "16" "70295064" "70295064" "subst" "0.0023432" "02326" "AARS_000056" "g.70295064A>T" "" "" "" "AARS(NM_001605.2):c.1672-4T>A, AARS1(NM_001605.2):c.1672-4T>A, AARS1(NM_001605.3):c.1672-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70261161A>T" "" "likely benign" "" "0000616107" "0" "30" "16" "70298925" "70298925" "subst" "0.000410119" "01943" "AARS_000057" "g.70298925C>G" "" "" "" "AARS(NM_001605.2):c.1428G>C (p.R476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70265022C>G" "" "likely benign" "" "0000616108" "0" "50" "16" "70301682" "70301682" "subst" "1.21819E-5" "02326" "AARS_000044" "g.70301682G>A" "" "" "" "AARS1(NM_001605.2):c.1102C>T (p.P368S), AARS1(NM_001605.3):c.1102C>T (p.P368S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70267779G>A" "" "VUS" "" "0000616109" "0" "30" "16" "70304215" "70304215" "subst" "0.00174249" "01943" "AARS_000020" "g.70304215G>A" "" "" "" "AARS(NM_001605.2):c.700C>T (p.P234S), AARS1(NM_001605.2):c.700C>T (p.P234S), AARS1(NM_001605.3):c.700C>T (p.P234S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70270312G>A" "" "likely benign" "" "0000623514" "0" "50" "16" "70289720" "70289720" "subst" "4.06881E-6" "01943" "AARS_000054" "g.70289720G>A" "" "" "" "AARS(NM_001605.2):c.2197C>T (p.H733Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70255817G>A" "" "VUS" "" "0000638671" "0" "70" "16" "70302226" "70302226" "subst" "0.000125879" "00006" "AARS_000018" "g.70302226T>C" "" "{PMID:Sevy 2016:25783436}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.70268323T>C" "" "likely pathogenic (dominant)" "" "0000649392" "1" "30" "16" "70286740" "70286740" "subst" "0.00770062" "03575" "AARS_000013" "g.70286740C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs149377346}" "Germline" "" "rs149377346" "0" "" "" "g.70252837C>T" "" "likely benign" "" "0000649393" "1" "50" "16" "70304215" "70304215" "subst" "0.00174249" "03575" "AARS_000020" "g.70304215G>A" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 20 heterozygous; {DB:CLININrs141840552}" "Germline" "" "rs141840552" "0" "" "" "g.70270312G>A" "" "VUS" "" "0000657914" "0" "30" "16" "70295047" "70295047" "subst" "0.00527483" "01943" "AARS_000040" "g.70295047G>A" "" "" "" "AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile)), AARS1(NM_001605.2):c.1685C>T (p.T562I), AARS1(NM_001605.3):c.1685C>T (p.T562I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70261144G>A" "" "likely benign" "" "0000657915" "0" "30" "16" "70302243" "70302243" "subst" "1.21822E-5" "02330" "AARS_000058" "g.70302243G>A" "" "" "" "AARS1(NM_001605.3):c.1002C>T (p.Y334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70268340G>A" "" "likely benign" "" "0000663993" "0" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000664043" "0" "70" "16" "70296273" "70296273" "subst" "0" "00006" "AARS_000060" "g.70296273C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.70262370C>T" "" "likely pathogenic (dominant)" "" "0000664044" "0" "70" "16" "70292050" "70292050" "subst" "0" "00006" "AARS_000059" "g.70292050T>C" "" "{PMID:Antoniadi 2015:26392352}" "" "" "AD, segregates with disease" "Germline" "" "" "0" "" "" "g.70258147T>C" "" "likely pathogenic (dominant)" "" "0000664143" "0" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000664153" "0" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000664163" "0" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000664166" "0" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000669349" "3" "50" "16" "70304215" "70304215" "subst" "0.00174249" "03575" "AARS_000020" "g.70304215G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs141840552}" "Germline" "" "rs141840552" "0" "" "" "g.70270312G>A" "" "VUS" "" "0000680646" "0" "30" "16" "70287883" "70287883" "subst" "0.00170572" "02326" "AARS_000034" "g.70287883T>C" "" "" "" "AARS(NM_001605.2):c.2459A>G (p.K820R), AARS1(NM_001605.2):c.2459A>G (p.K820R), AARS1(NM_001605.3):c.2459A>G (p.K820R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680647" "0" "50" "16" "70292968" "70292968" "subst" "8.12117E-6" "02325" "AARS_000061" "g.70292968A>C" "" "" "" "AARS1(NM_001605.3):c.1907T>G (p.F636C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680648" "0" "50" "16" "70293064" "70293064" "subst" "0.000178689" "02330" "AARS_000062" "g.70293064T>C" "" "" "" "AARS(NM_001605.3):c.1811A>G (p.(Asn604Ser)), AARS1(NM_001605.3):c.1811A>G (p.N604S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680649" "0" "30" "16" "70295064" "70295064" "subst" "0.0023432" "01943" "AARS_000056" "g.70295064A>T" "" "" "" "AARS(NM_001605.2):c.1672-4T>A, AARS1(NM_001605.2):c.1672-4T>A, AARS1(NM_001605.3):c.1672-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680650" "0" "30" "16" "70316541" "70316541" "subst" "0" "01943" "AARS_000063" "g.70316541G>A" "" "" "" "AARS(NM_001605.2):c.126C>T (p.A42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692120" "0" "50" "16" "70289669" "70289669" "subst" "1.21851E-5" "02325" "AARS_000064" "g.70289669G>A" "" "" "" "AARS1(NM_001605.3):c.2248C>T (p.R750W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692121" "0" "30" "16" "70302217" "70302217" "subst" "0" "01943" "AARS_000065" "g.70302217C>G" "" "" "" "AARS(NM_001605.2):c.1028G>C (p.R343T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701819" "1" "70" "16" "70303590" "70303590" "subst" "0" "01428" "AARS_000066" "g.70303590A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70269687A>T" "" "likely pathogenic" "" "0000701825" "2" "70" "16" "70289666" "70289666" "subst" "4.46766E-5" "01428" "AARS_000015" "g.70289666T>C" "" "" "" "" "" "Germline" "" "rs143370729" "" "" "" "g.70255763T>C" "190103" "likely pathogenic" "" "0000708951" "21" "90" "16" "70292995" "70292995" "subst" "0" "00006" "AARS_000067" "g.70292995G>A" "" "{PMID:Weterman 2018:30124830}" "" "472+12delG" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70259092G>A" "" "pathogenic (dominant)" "" "0000708952" "21" "90" "16" "70292995" "70292995" "subst" "0" "00006" "AARS_000067" "g.70292995G>A" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70259092G>A" "" "pathogenic (dominant)" "" "0000708953" "1" "90" "16" "70302236" "70302236" "subst" "0" "00006" "AARS_000068" "g.70302236C>T" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268333C>T" "" "pathogenic (dominant)" "" "0000708954" "1" "90" "16" "70302236" "70302236" "subst" "0" "00006" "AARS_000068" "g.70302236C>T" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268333C>T" "" "pathogenic (dominant)" "" "0000708955" "11" "90" "16" "70302236" "70302236" "subst" "0" "00006" "AARS_000068" "g.70302236C>T" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268333C>T" "" "pathogenic (dominant)" "" "0000708956" "11" "90" "16" "70302236" "70302236" "subst" "0" "00006" "AARS_000068" "g.70302236C>T" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268333C>T" "" "pathogenic (dominant)" "" "0000708957" "11" "90" "16" "70302236" "70302236" "subst" "0" "00006" "AARS_000068" "g.70302236C>T" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268333C>T" "" "pathogenic (dominant)" "" "0000708958" "21" "90" "16" "70302236" "70302236" "subst" "0" "00006" "AARS_000068" "g.70302236C>T" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268333C>T" "" "pathogenic (dominant)" "" "0000708959" "11" "90" "16" "70302269" "70302269" "subst" "0" "00006" "AARS_000069" "g.70302269G>A" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268366G>A" "" "pathogenic (dominant)" "" "0000708960" "11" "90" "16" "70302269" "70302269" "subst" "0" "00006" "AARS_000069" "g.70302269G>A" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268366G>A" "" "pathogenic (dominant)" "" "0000708961" "11" "90" "16" "70302269" "70302269" "subst" "0" "00006" "AARS_000069" "g.70302269G>A" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268366G>A" "" "pathogenic (dominant)" "" "0000708962" "11" "90" "16" "70302269" "70302269" "subst" "0" "00006" "AARS_000069" "g.70302269G>A" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268366G>A" "" "pathogenic (dominant)" "" "0000708963" "1" "90" "16" "70302269" "70302269" "subst" "0" "00006" "AARS_000069" "g.70302269G>A" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268366G>A" "" "pathogenic (dominant)" "" "0000708964" "1" "90" "16" "70302269" "70302269" "subst" "0" "00006" "AARS_000069" "g.70302269G>A" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268366G>A" "" "pathogenic (dominant)" "" "0000708965" "1" "90" "16" "70302269" "70302269" "subst" "0" "00006" "AARS_000069" "g.70302269G>A" "" "{PMID:Weterman 2018:30124830}" "" "" "function analysed used yeast complementation assay and zebra fish embryo injections" "Germline" "" "" "0" "" "" "g.70268366G>A" "" "pathogenic (dominant)" "" "0000708966" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708967" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708968" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708969" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708970" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708971" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708972" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708973" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708974" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708975" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708976" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708977" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708978" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708979" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708980" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708981" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708982" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708983" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708984" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708985" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Latour 2010:20045102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708986" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "1/363 cases CMT" "{PMID:McLaughlin 2012:22009580}" "" "" "not in 1086 control chromosomes" "Germline" "yes" "" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "" "0000708987" "1" "90" "16" "70288591" "70288591" "subst" "0" "00006" "AARS_000003" "g.70288591T>G" "1/363 cases CMT" "{PMID:McLaughlin 2012:22009580}" "" "" "not in 954 control chromosomes" "Germline" "yes" "" "0" "" "" "g.70254688T>G" "" "pathogenic (dominant)" "" "0000708988" "1" "10" "16" "70295047" "70295047" "subst" "0.00527483" "00006" "AARS_000040" "g.70295047G>A" "8/1088 control chromosomes" "{PMID:McLaughlin 2012:22009580}" "" "" "" "Germline" "" "" "0" "" "" "g.70261144G>A" "" "benign" "" "0000708989" "1" "10" "16" "70289732" "70289732" "subst" "0.000627173" "00006" "AARS_000016" "g.70289732G>A" "2/1090 control chromosomes" "{PMID:McLaughlin 2012:22009580}" "" "" "" "Germline" "" "" "0" "" "" "g.70255829G>A" "" "benign" "" "0000708990" "1" "10" "16" "70286740" "70286740" "subst" "0.00770062" "00006" "AARS_000013" "g.70286740C>T" "11/1106 control chromosomes" "{PMID:McLaughlin 2012:22009580}" "" "" "" "Germline" "" "" "0" "" "" "g.70252837C>T" "" "benign" "" "0000708991" "1" "10" "16" "70286631" "70286631" "subst" "0.00992858" "00006" "AARS_000030" "g.70286631T>A" "12/752 control chromosomes" "{PMID:McLaughlin 2012:22009580}" "" "" "" "Germline" "" "rs35744709" "0" "" "" "g.70252728T>A" "" "benign" "" "0000708992" "1" "90" "16" "70310991" "70310991" "subst" "0" "00006" "AARS_000002" "g.70310991T>A" "" "{PMID:Lin 2011:232206013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70277088T>A" "" "pathogenic (dominant)" "" "0000725928" "0" "70" "16" "70292995" "70292995" "subst" "0" "02330" "AARS_000067" "g.70292995G>A" "" "" "" "AARS1(NM_001605.3):c.1880C>T (p.S627L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725929" "0" "10" "16" "70295064" "70295064" "subst" "0.0023432" "02330" "AARS_000056" "g.70295064A>T" "" "" "" "AARS(NM_001605.2):c.1672-4T>A, AARS1(NM_001605.2):c.1672-4T>A, AARS1(NM_001605.3):c.1672-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725930" "0" "30" "16" "70305666" "70305666" "subst" "4.06253E-6" "02330" "AARS_000070" "g.70305666G>T" "" "" "" "AARS1(NM_001605.3):c.671+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787184" "0" "50" "16" "70295064" "70295064" "subst" "0.0023432" "00006" "AARS_000056" "g.70295064A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs187509039" "0" "" "" "g.70261161A>T" "{CV-RCV:000197414.7}" "VUS" "" "0000807558" "0" "30" "16" "70287883" "70287883" "subst" "0.00170572" "01943" "AARS_000034" "g.70287883T>C" "" "" "" "AARS(NM_001605.2):c.2459A>G (p.K820R), AARS1(NM_001605.2):c.2459A>G (p.K820R), AARS1(NM_001605.3):c.2459A>G (p.K820R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807559" "0" "50" "16" "70291947" "70291947" "subst" "0.000284497" "02325" "AARS_000071" "g.70291947G>T" "" "" "" "AARS1(NM_001605.3):c.2166C>A (p.F722L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807560" "0" "30" "16" "70295064" "70295064" "subst" "0.0023432" "02325" "AARS_000056" "g.70295064A>T" "" "" "" "AARS(NM_001605.2):c.1672-4T>A, AARS1(NM_001605.2):c.1672-4T>A, AARS1(NM_001605.3):c.1672-4T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807561" "0" "50" "16" "70298954" "70298954" "subst" "1.21817E-5" "02330" "AARS_000072" "g.70298954T>C" "" "" "" "AARS1(NM_001605.3):c.1399A>G (p.I467V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807562" "0" "50" "16" "70302226" "70302226" "subst" "0.000125879" "01943" "AARS_000018" "g.70302226T>C" "" "" "" "AARS(NM_001605.2):c.1019A>G (p.N340S), AARS1(NM_001605.3):c.1019A>G (p.N340S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807563" "0" "30" "16" "70305725" "70305725" "subst" "4.06072E-5" "01943" "AARS_000073" "g.70305725A>G" "" "" "" "AARS(NM_001605.2):c.630T>C (p.N210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821053" "1" "70" "16" "70310413" "70310413" "subst" "0" "04197" "AARS_000074" "g.70310413C>A" "" "{PMID:Sundal 2019:31775912}" "" "" "variant located in the aminoacylation domain, could have a functional impact protein aminoacylation activity; not shown to affect splicing or expression in brain" "Germline" "yes" "" "0" "" "" "" "VCV001299470.1" "likely pathogenic (dominant)" "" "0000832420" "1" "50" "16" "70305852" "70305852" "subst" "2.43904E-5" "00006" "AARS_000075" "g.70305852G>A" "" "{PMID:Lassuthova 2018:30028002}" "" "Pro168Leu" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000833069" "1" "70" "16" "70289725" "70289725" "subst" "4.48643E-5" "00006" "AARS_000076" "g.70289725G>A" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.70255822G>A" "" "likely pathogenic" "" "0000854607" "0" "10" "16" "70287192" "70287192" "subst" "0.000215305" "02330" "AARS_000078" "g.70287192C>T" "" "" "" "AARS1(NM_001605.3):c.2700G>A (p.T900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854608" "0" "30" "16" "70288653" "70288653" "subst" "0.000204997" "02330" "AARS_000079" "g.70288653G>A" "" "" "" "AARS1(NM_001605.2):c.2287-16C>T, AARS1(NM_001605.3):c.2287-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854609" "0" "50" "16" "70292986" "70292986" "subst" "0" "01943" "AARS_000080" "g.70292986G>A" "" "" "" "AARS(NM_001605.2):c.1889C>T (p.A630V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854610" "0" "30" "16" "70296426" "70296426" "subst" "1.22591E-5" "02330" "AARS_000082" "g.70296426T>C" "" "" "" "AARS1(NM_001605.3):c.1494A>G (p.V498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864909" "0" "90" "16" "70286638" "70286639" "ins" "0" "01943" "AARS_000077" "g.70286638_70286639insG" "" "" "" "AARS(NM_001605.2):c.2892_2893insC (p.D965Rfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864910" "0" "30" "16" "70287706" "70287706" "subst" "0.00195347" "01804" "AARS_000014" "g.70287706G>A" "" "" "" "AARS(NM_001605.2):c.2521-3C>T (p.?), AARS1(NM_001605.2):c.2521-3C>T, AARS1(NM_001605.3):c.2521-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864911" "0" "30" "16" "70289700" "70289700" "subst" "0.000235652" "02325" "AARS_000036" "g.70289700G>A" "" "" "" "AARS1(NM_001605.2):c.2217C>T (p.I739=), AARS1(NM_001605.3):c.2217C>T (p.I739=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864912" "0" "50" "16" "70293028" "70293028" "subst" "1.21824E-5" "01943" "AARS_000081" "g.70293028C>T" "" "" "" "AARS(NM_001605.2):c.1847G>A (p.R616H), AARS1(NM_001605.2):c.1847G>A (p.R616H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893156" "0" "50" "16" "70293064" "70293064" "subst" "0.000178689" "02325" "AARS_000062" "g.70293064T>C" "" "" "" "AARS(NM_001605.3):c.1811A>G (p.(Asn604Ser)), AARS1(NM_001605.3):c.1811A>G (p.N604S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893157" "0" "50" "16" "70298954" "70298954" "subst" "1.21817E-5" "02325" "AARS_000072" "g.70298954T>C" "" "" "" "AARS1(NM_001605.3):c.1399A>G (p.I467V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893158" "0" "50" "16" "70305740" "70305740" "subst" "0" "02325" "AARS_000083" "g.70305740G>T" "" "" "" "AARS1(NM_001605.3):c.615C>A (p.N205K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893159" "0" "50" "16" "70310403" "70310403" "subst" "4.06303E-6" "02325" "AARS_000084" "g.70310403G>C" "" "" "" "AARS1(NM_001605.3):c.465C>G (p.I155M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000904786" "3" "70" "16" "70316526" "70316526" "subst" "0" "00006" "AARS_000085" "g.70316526G>T" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.70282623G>T" "" "VUS" "" "0000914682" "0" "30" "16" "70289753" "70289753" "subst" "0.000401096" "02326" "AARS_000086" "g.70289753C>T" "" "" "" "AARS1(NM_001605.2):c.2178-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926338" "0" "10" "16" "70302201" "70302201" "subst" "0.00300899" "02330" "AARS_000087" "g.70302201C>G" "" "" "" "AARS1(NM_001605.3):c.1044G>C (p.T348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926339" "0" "50" "16" "70305871" "70305871" "subst" "0" "02330" "AARS_000088" "g.70305871C>G" "" "" "" "AARS1(NM_001605.3):c.484G>C (p.D162H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926340" "0" "30" "16" "70310857" "70310857" "subst" "8.12387E-6" "02330" "AARS_000089" "g.70310857C>T" "" "" "" "AARS1(NM_001605.3):c.333+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930650" "0" "30" "16" "70289700" "70289700" "subst" "0.000235652" "02326" "AARS_000036" "g.70289700G>A" "" "" "" "AARS1(NM_001605.2):c.2217C>T (p.I739=), AARS1(NM_001605.3):c.2217C>T (p.I739=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950710" "0" "50" "16" "70292029" "70292029" "subst" "2.45881E-5" "02330" "AARS_000090" "g.70292029C>T" "" "" "" "AARS1(NM_001605.3):c.2084G>A (p.R695Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950711" "0" "50" "16" "70296275" "70296275" "subst" "8.12123E-6" "02325" "AARS_000041" "g.70296275C>T" "" "" "" "AARS1(NM_001605.3):c.1645G>A (p.V549M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950712" "0" "50" "16" "70305763" "70305763" "subst" "4.06091E-5" "02325" "AARS_000091" "g.70305763G>A" "" "" "" "AARS1(NM_001605.3):c.592C>T (p.R198W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968472" "0" "50" "16" "70292968" "70292968" "subst" "8.12117E-6" "02327" "AARS_000061" "g.70292968A>C" "" "" "" "AARS1(NM_001605.3):c.1907T>G (p.F636C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982018" "0" "50" "16" "70299544" "70299544" "subst" "3.65458E-5" "01804" "AARS_000092" "g.70299544T>C" "" "" "" "AARS(NM_001605.3):c.1244A>G (p.(Tyr415Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982019" "0" "50" "16" "70305757" "70305757" "subst" "0" "02330" "AARS_000093" "g.70305757C>T" "" "" "" "AARS1(NM_001605.3):c.598G>A (p.A200T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984946" "0" "90" "16" "70302259" "70302259" "subst" "0" "03779" "AARS_000001" "g.70302259C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs267606621" "0" "" "" "" "" "pathogenic" "" "0001002515" "0" "50" "16" "70286794" "70286840" "dup" "0" "02330" "AARS_000094" "g.70286794_70286840dup" "" "" "" "AARS1(NM_001605.3):c.2740_2741ins47 (p.L914*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002516" "0" "30" "16" "70292939" "70292939" "subst" "1.62425E-5" "01804" "AARS_000095" "g.70292939T>C" "" "" "" "AARS(NM_001605.2):c.1936A>G (p.(Thr646Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002517" "0" "50" "16" "70293028" "70293028" "subst" "1.21824E-5" "02326" "AARS_000081" "g.70293028C>T" "" "" "" "AARS(NM_001605.2):c.1847G>A (p.R616H), AARS1(NM_001605.2):c.1847G>A (p.R616H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002518" "0" "50" "16" "70296352" "70296352" "subst" "4.06088E-6" "01804" "AARS_000096" "g.70296352T>C" "" "" "" "AARS(NM_001605.2):c.1568A>G (p.(Gln523Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002519" "0" "50" "16" "70298936" "70298936" "subst" "0" "01804" "AARS_000024" "g.70298936G>A" "" "" "" "AARS(NM_001605.2):c.1417C>T (p.(Leu473Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002520" "0" "50" "16" "70301557" "70301557" "subst" "2.03097E-5" "01804" "AARS_000097" "g.70301557C>A" "" "" "" "AARS(NM_001605.2):c.1222+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002521" "0" "50" "16" "70304179" "70304179" "subst" "8.12183E-6" "02325" "AARS_000026" "g.70304179G>A" "" "" "" "AARS1(NM_001605.3):c.736C>T (p.R246*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002522" "0" "50" "16" "70305858" "70305858" "subst" "0.000174856" "02325" "AARS_000050" "g.70305858A>C" "" "" "" "AARS1(NM_001605.3):c.497T>G (p.I166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015421" "0" "70" "16" "70289666" "70289666" "subst" "4.46766E-5" "02325" "AARS_000015" "g.70289666T>C" "" "" "" "AARS1(NM_001605.2):c.2251A>G (p.R751G), AARS1(NM_001605.3):c.2251A>G (p.R751G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015422" "0" "30" "16" "70293051" "70293051" "subst" "2.03064E-5" "02330" "AARS_000098" "g.70293051C>T" "" "" "" "AARS1(NM_001605.3):c.1824G>A (p.T608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015423" "0" "50" "16" "70305813" "70305813" "subst" "8.12222E-6" "02330" "AARS_000099" "g.70305813G>A" "" "" "" "AARS1(NM_001605.3):c.542C>T (p.T181M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026751" "0" "50" "16" "70296296" "70296296" "subst" "0" "02325" "AARS_000100" "g.70296296T>C" "" "" "" "AARS1(NM_001605.3):c.1624A>G (p.I542V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026752" "0" "50" "16" "70303525" "70303525" "subst" "2.84537E-5" "02327" "AARS_000101" "g.70303525G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041292" "0" "50" "16" "70289642" "70289642" "subst" "7.71893E-5" "02325" "AARS_000102" "g.70289642C>T" "" "" "" "AARS1(NM_001605.3):c.2275G>A (p.E759K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041293" "0" "50" "16" "70292878" "70292878" "subst" "4.0619E-6" "01804" "AARS_000103" "g.70292878C>T" "" "" "" "AARS(NM_001605.3):c.1992+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041294" "0" "50" "16" "70292956" "70292956" "subst" "0" "01804" "AARS_000104" "g.70292956G>T" "" "" "" "AARS(NM_001605.3):c.1919C>A (p.(Ala640Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041295" "0" "50" "16" "70293064" "70293064" "subst" "0.000178689" "01804" "AARS_000062" "g.70293064T>C" "" "" "" "AARS(NM_001605.3):c.1811A>G (p.(Asn604Ser)), AARS1(NM_001605.3):c.1811A>G (p.N604S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041296" "0" "50" "16" "70295061" "70295061" "subst" "0" "01804" "AARS_000105" "g.70295061C>T" "" "" "" "AARS(NM_001605.3):c.1672-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041297" "0" "50" "16" "70310924" "70310924" "subst" "8.12117E-6" "01804" "AARS_000106" "g.70310924T>C" "" "" "" "AARS(NM_001605.3):c.278A>G (p.(Tyr93Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046576" "0" "30" "16" "70288653" "70288653" "subst" "0.000204997" "02326" "AARS_000079" "g.70288653G>A" "" "" "" "AARS1(NM_001605.2):c.2287-16C>T, AARS1(NM_001605.3):c.2287-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046577" "0" "30" "16" "70292085" "70292085" "subst" "0" "02326" "AARS_000107" "g.70292085C>T" "" "" "" "AARS1(NM_001605.2):c.2028G>A (p.A676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046578" "0" "50" "16" "70296319" "70296319" "subst" "0" "02325" "AARS_000108" "g.70296319A>C" "" "" "" "AARS1(NM_001605.3):c.1601T>G (p.F534C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055635" "0" "50" "16" "70305771" "70305771" "subst" "0" "01804" "AARS_000109" "g.70305771A>G" "" "" "" "AARS(NM_001605.3):c.584T>C (p.(Ile195Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060452" "0" "70" "16" "70289631" "70289631" "subst" "4.06273E-6" "00006" "AARS_000110" "g.70289631C>T" "" "{PMID:Wai 2020:32123317}" "" "" "intron retention" "Germline" "" "rs755001327" "0" "" "" "g.70255728C>T" "" "VUS" "" "0001066524" "0" "50" "16" "70310930" "70310930" "subst" "4.06058E-6" "02325" "AARS_000111" "g.70310930T>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 AARS ## Count = 213 "{{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}}" "0000061784" "00001834" "10" "2981" "0" "2981" "0" "c.*74A>T" "r.(=)" "p.(=)" "" "0000061785" "00001834" "50" "1223" "-34" "1223" "-34" "c.1223-34dup" "r.(=)" "p.(=)" "" "0000061786" "00001834" "10" "1404" "0" "1404" "0" "c.1404C>T" "r.(=)" "p.(=)" "" "0000061787" "00001834" "50" "1672" "-125" "1672" "-124" "c.1672-125_1672-124insTG" "r.(=)" "p.(=)" "" "0000061788" "00001834" "50" "1786" "-26" "1786" "-26" "c.1786-26T>C" "r.(=)" "p.(=)" "" "0000061789" "00001834" "10" "2715" "0" "2715" "0" "c.2715T>C" "r.(=)" "p.(=)" "" "0000061790" "00001834" "10" "2715" "0" "2715" "0" "c.2715T>C" "r.(=)" "p.(=)" "" "0000061791" "00001834" "10" "903" "0" "903" "0" "c.903C>T" "r.(=)" "p.(=)" "" "0000061792" "00001834" "50" "962" "165" "962" "165" "c.962+165C>A" "r.(=)" "p.(=)" "" "0000078924" "00001834" "70" "2459" "0" "2459" "0" "c.2459A>G" "r.(?)" "p.(Lys820Arg)" "" "0000079113" "00001834" "00" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Lys)" "" "0000194407" "00001834" "90" "211" "0" "211" "0" "c.211A>T" "r.(?)" "p.(Asn71Tyr)" "3" "0000194408" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "8" "0000194409" "00001834" "10" "2333" "0" "2333" "0" "c.2333A>C" "r.(?)" "p.(Glu778Ala)" "17" "0000247367" "00001834" "10" "2715" "0" "2715" "0" "c.2715T>C" "r.(?)" "p.(Val905=)" "" "0000247389" "00001834" "30" "100" "0" "100" "0" "c.100T>C" "r.(?)" "p.(Leu34=)" "" "0000248379" "00001834" "10" "2715" "0" "2715" "0" "c.2715T>C" "r.(?)" "p.(Val905=)" "" "0000256752" "00001834" "50" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Asn340Ser)" "" "0000256753" "00001834" "10" "1332" "0" "1332" "0" "c.1332G>A" "r.(?)" "p.(Glu444=)" "" "0000256754" "00001834" "10" "1404" "0" "1404" "0" "c.1404C>T" "r.(?)" "p.(Tyr468=)" "" "0000256755" "00001834" "30" "2521" "-3" "2521" "-3" "c.2521-3C>T" "r.spl?" "p.?" "" "0000256756" "00001834" "10" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Gly931Ser)" "" "0000256757" "00001834" "30" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Pro234Ser)" "" "0000256758" "00001834" "50" "97" "0" "97" "0" "c.97C>G" "r.(?)" "p.(Pro33Ala)" "" "0000256759" "00001834" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Ter)" "" "0000260414" "00001834" "30" "2185" "0" "2185" "0" "c.2185C>T" "r.(?)" "p.(Arg729Trp)" "" "0000260415" "00001834" "70" "2251" "0" "2251" "0" "c.2251A>G" "r.(?)" "p.(Arg751Gly)" "" "0000260416" "00001834" "30" "2521" "-3" "2521" "-3" "c.2521-3C>T" "r.spl?" "p.?" "" "0000260417" "00001834" "30" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Gly931Ser)" "" "0000324858" "00001834" "50" "4131" "0" "4131" "0" "c.*1224G>A" "r.(=)" "p.(=)" "" "0000324859" "00001834" "50" "4131" "0" "4131" "0" "c.*1224G>C" "r.(=)" "p.(=)" "" "0000342400" "00001834" "50" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Ter)" "" "0000342647" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000343720" "00001834" "50" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Asn340Ser)" "" "0000347133" "00001834" "50" "1156" "0" "1156" "0" "c.1156C>G" "r.(?)" "p.(Leu386Val)" "" "0000347186" "00001834" "50" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Leu473Phe)" "" "0000347725" "00001834" "50" "299" "0" "299" "0" "c.299T>C" "r.(?)" "p.(Met100Thr)" "" "0000350675" "00001834" "50" "2521" "0" "2521" "0" "c.2521G>A" "r.(?)" "p.(Val841Met)" "" "0000439754" "00001834" "70" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.Arg329His" "" "0000454956" "00001834" "70" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Asn71Ser)" "" "0000558916" "00001834" "30" "3755" "0" "3755" "0" "c.*848G>T" "r.(=)" "p.(=)" "" "0000558917" "00001834" "10" "2900" "0" "2900" "0" "c.2900A>T" "r.(?)" "p.(Lys967Met)" "" "0000558919" "00001834" "30" "2900" "0" "2900" "0" "c.2900A>T" "r.(?)" "p.(Lys967Met)" "" "0000558921" "00001834" "30" "2716" "0" "2716" "0" "c.2716C>G" "r.(?)" "p.(Pro906Ala)" "" "0000558922" "00001834" "30" "2681" "0" "2681" "0" "c.2681A>G" "r.(?)" "p.(Asn894Ser)" "" "0000558923" "00001834" "30" "2580" "0" "2580" "0" "c.2580G>A" "r.(?)" "p.(Leu860=)" "" "0000558924" "00001834" "30" "2521" "-3" "2521" "-3" "c.2521-3C>T" "r.spl?" "p.?" "" "0000558925" "00001834" "10" "2459" "0" "2459" "0" "c.2459A>G" "r.(?)" "p.(Lys820Arg)" "" "0000558926" "00001834" "30" "2364" "0" "2364" "0" "c.2364C>G" "r.(?)" "p.(Asn788Lys)" "" "0000558927" "00001834" "30" "2217" "0" "2217" "0" "c.2217C>T" "r.(?)" "p.(Ile739=)" "" "0000558928" "00001834" "30" "2185" "0" "2185" "0" "c.2185C>T" "r.(?)" "p.(Arg729Trp)" "" "0000558929" "00001834" "30" "1878" "0" "1878" "0" "c.1878C>T" "r.(?)" "p.(Gly626=)" "" "0000558930" "00001834" "50" "1811" "0" "1811" "0" "c.1811A>C" "r.(?)" "p.(Asn604Thr)" "" "0000558931" "00001834" "30" "1737" "0" "1737" "0" "c.1737C>T" "r.(?)" "p.(Ile579=)" "" "0000558932" "00001834" "30" "1737" "0" "1737" "0" "c.1737C>T" "r.(?)" "p.(Ile579=)" "" "0000558933" "00001834" "10" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Thr562Ile)" "" "0000558934" "00001834" "30" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Thr562Ile)" "" "0000558935" "00001834" "30" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Thr562Ile)" "" "0000558936" "00001834" "50" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Val549Met)" "" "0000558938" "00001834" "10" "1347" "21" "1347" "21" "c.1347+21A>G" "r.(=)" "p.(=)" "" "0000558939" "00001834" "10" "1332" "0" "1332" "0" "c.1332G>A" "r.(?)" "p.(Glu444=)" "" "0000558940" "00001834" "30" "1332" "0" "1332" "0" "c.1332G>A" "r.(?)" "p.(Glu444=)" "" "0000558941" "00001834" "50" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Pro368Ser)" "" "0000558942" "00001834" "50" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Lys365Glu)" "" "0000558943" "00001834" "30" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Ala302Thr)" "" "0000558944" "00001834" "30" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Ala302Thr)" "" "0000558945" "00001834" "10" "903" "0" "903" "0" "c.903C>T" "r.(?)" "p.(His301=)" "" "0000558946" "00001834" "10" "903" "0" "903" "0" "c.903C>T" "r.(?)" "p.(His301=)" "" "0000558947" "00001834" "10" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Gly275Asp)" "" "0000558949" "00001834" "50" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Ter)" "" "0000558950" "00001834" "30" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Pro234Ser)" "" "0000558951" "00001834" "10" "671" "3" "671" "3" "c.671+3A>G" "r.spl?" "p.?" "" "0000558953" "00001834" "30" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Ala200=)" "" "0000558954" "00001834" "50" "497" "0" "497" "0" "c.497T>G" "r.(?)" "p.(Ile166Ser)" "" "0000558955" "00001834" "10" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000558956" "00001834" "30" "-14" "0" "-14" "0" "c.-14G>A" "r.(?)" "p.(=)" "" "0000595604" "00001834" "70" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Thr562Ile)" "" "0000604236" "00001834" "70" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000616103" "00001834" "30" "2185" "0" "2185" "0" "c.2185C>T" "r.(?)" "p.(Arg729Trp)" "" "0000616104" "00001834" "30" "1839" "0" "1839" "0" "c.1839C>T" "r.(?)" "p.(Phe613=)" "" "0000616105" "00001834" "10" "1737" "0" "1737" "0" "c.1737C>T" "r.(?)" "p.(Ile579=)" "" "0000616106" "00001834" "30" "1672" "-4" "1672" "-4" "c.1672-4T>A" "r.spl?" "p.?" "" "0000616107" "00001834" "30" "1428" "0" "1428" "0" "c.1428G>C" "r.(?)" "p.(Arg476=)" "" "0000616108" "00001834" "50" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Pro368Ser)" "" "0000616109" "00001834" "30" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Pro234Ser)" "" "0000623514" "00001834" "50" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(His733Tyr)" "" "0000638671" "00001834" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Asn340Ser)" "" "0000649392" "00001834" "30" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Gly931Ser)" "" "0000649393" "00001834" "50" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Pro234Ser)" "" "0000657914" "00001834" "30" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Thr562Ile)" "" "0000657915" "00001834" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Tyr334=)" "" "0000663993" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000664043" "00001834" "70" "1647" "0" "1647" "0" "c.1647G>A" "r.(?)" "p.(=)" "" "0000664044" "00001834" "70" "2063" "0" "2063" "0" "c.2063A>G" "r.(?)" "p.(Glu688Gly)" "" "0000664143" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000664153" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000664163" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000664166" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000669349" "00001834" "50" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Pro234Ser)" "" "0000680646" "00001834" "30" "2459" "0" "2459" "0" "c.2459A>G" "r.(?)" "p.(Lys820Arg)" "" "0000680647" "00001834" "50" "1907" "0" "1907" "0" "c.1907T>G" "r.(?)" "p.(Phe636Cys)" "" "0000680648" "00001834" "50" "1811" "0" "1811" "0" "c.1811A>G" "r.(?)" "p.(Asn604Ser)" "" "0000680649" "00001834" "30" "1672" "-4" "1672" "-4" "c.1672-4T>A" "r.spl?" "p.?" "" "0000680650" "00001834" "30" "126" "0" "126" "0" "c.126C>T" "r.(?)" "p.(Ala42=)" "" "0000692120" "00001834" "50" "2248" "0" "2248" "0" "c.2248C>T" "r.(?)" "p.(Arg750Trp)" "" "0000692121" "00001834" "30" "1028" "0" "1028" "0" "c.1028G>C" "r.(?)" "p.(Arg343Thr)" "" "0000701819" "00001834" "70" "893" "0" "893" "0" "c.893T>A" "r.(?)" "p.(Leu298Gln)" "" "0000701825" "00001834" "70" "2251" "0" "2251" "0" "c.2251A>G" "r.(?)" "p.(Arg751Gly)" "" "0000708951" "00001834" "90" "1880" "0" "1880" "0" "c.1880C>T" "r.(?)" "p.(Ser627Leu)" "" "0000708952" "00001834" "90" "1880" "0" "1880" "0" "c.1880C>T" "r.(?)" "p.(Ser627Leu)" "" "0000708953" "00001834" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Glu337Lys)" "" "0000708954" "00001834" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Glu337Lys)" "" "0000708955" "00001834" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Glu337Lys)" "" "0000708956" "00001834" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Glu337Lys)" "" "0000708957" "00001834" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Glu337Lys)" "" "0000708958" "00001834" "90" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Glu337Lys)" "" "0000708959" "00001834" "90" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Arg326Trp)" "" "0000708960" "00001834" "90" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Arg326Trp)" "" "0000708961" "00001834" "90" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Arg326Trp)" "" "0000708962" "00001834" "90" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Arg326Trp)" "" "0000708963" "00001834" "90" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Arg326Trp)" "" "0000708964" "00001834" "90" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Arg326Trp)" "" "0000708965" "00001834" "90" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Arg326Trp)" "" "0000708966" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708967" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708968" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708969" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708970" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708971" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708972" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708973" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708974" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708975" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708976" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708977" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708978" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708979" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708980" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708981" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708982" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708983" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708984" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708985" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708986" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000708987" "00001834" "90" "2333" "0" "2333" "0" "c.2333A>C" "r.(?)" "p.(Glu778Ala)" "" "0000708988" "00001834" "10" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Thr562Ile)" "" "0000708989" "00001834" "10" "2185" "0" "2185" "0" "c.2185C>T" "r.(?)" "p.(Arg729Trp)" "" "0000708990" "00001834" "10" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Gly931Ser)" "" "0000708991" "00001834" "10" "2900" "0" "2900" "0" "c.2900A>T" "r.(?)" "p.(Lys967Met)" "" "0000708992" "00001834" "90" "211" "0" "211" "0" "c.211A>T" "r.(?)" "p.(Asn71Tyr)" "" "0000725928" "00001834" "70" "1880" "0" "1880" "0" "c.1880C>T" "r.(?)" "p.(Ser627Leu)" "" "0000725929" "00001834" "10" "1672" "-4" "1672" "-4" "c.1672-4T>A" "r.spl?" "p.?" "" "0000725930" "00001834" "30" "671" "18" "671" "18" "c.671+18C>A" "r.(=)" "p.(=)" "" "0000787184" "00001834" "50" "1672" "-4" "1672" "-4" "c.1672-4T>A" "r.spl" "p.?" "12i" "0000807558" "00001834" "30" "2459" "0" "2459" "0" "c.2459A>G" "r.(?)" "p.(Lys820Arg)" "" "0000807559" "00001834" "50" "2166" "0" "2166" "0" "c.2166C>A" "r.(?)" "p.(Phe722Leu)" "" "0000807560" "00001834" "30" "1672" "-4" "1672" "-4" "c.1672-4T>A" "r.spl?" "p.?" "" "0000807561" "00001834" "50" "1399" "0" "1399" "0" "c.1399A>G" "r.(?)" "p.(Ile467Val)" "" "0000807562" "00001834" "50" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Asn340Ser)" "" "0000807563" "00001834" "30" "630" "0" "630" "0" "c.630T>C" "r.(?)" "p.(Asn210=)" "" "0000821053" "00001834" "70" "455" "0" "455" "0" "c.455G>T" "r.455g>u" "p.Cys152Phe" "" "0000832420" "00001834" "50" "503" "0" "503" "0" "c.503C>T" "r.(?)" "p.(Pro168Leu)" "" "0000833069" "00001834" "70" "2192" "0" "2192" "0" "c.2192C>T" "r.(?)" "p.(Ser731Leu)" "" "0000854607" "00001834" "10" "2700" "0" "2700" "0" "c.2700G>A" "r.(?)" "p.(Thr900=)" "" "0000854608" "00001834" "30" "2287" "-16" "2287" "-16" "c.2287-16C>T" "r.(=)" "p.(=)" "" "0000854609" "00001834" "50" "1889" "0" "1889" "0" "c.1889C>T" "r.(?)" "p.(Ala630Val)" "" "0000854610" "00001834" "30" "1494" "0" "1494" "0" "c.1494A>G" "r.(?)" "p.(Val498=)" "" "0000864909" "00001834" "90" "2892" "0" "2893" "0" "c.2892_2893insC" "r.(?)" "p.(Asp965Argfs*30)" "" "0000864910" "00001834" "30" "2521" "-3" "2521" "-3" "c.2521-3C>T" "r.spl?" "p.?" "" "0000864911" "00001834" "30" "2217" "0" "2217" "0" "c.2217C>T" "r.(?)" "p.(Ile739=)" "" "0000864912" "00001834" "50" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "" "0000893156" "00001834" "50" "1811" "0" "1811" "0" "c.1811A>G" "r.(?)" "p.(Asn604Ser)" "" "0000893157" "00001834" "50" "1399" "0" "1399" "0" "c.1399A>G" "r.(?)" "p.(Ile467Val)" "" "0000893158" "00001834" "50" "615" "0" "615" "0" "c.615C>A" "r.(?)" "p.(Asn205Lys)" "" "0000893159" "00001834" "50" "465" "0" "465" "0" "c.465C>G" "r.(?)" "p.(Ile155Met)" "" "0000904786" "00001834" "70" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(Asn47Lys)" "" "0000914682" "00001834" "30" "2178" "-14" "2178" "-14" "c.2178-14G>A" "r.(=)" "p.(=)" "" "0000926338" "00001834" "10" "1044" "0" "1044" "0" "c.1044G>C" "r.(?)" "p.(Thr348=)" "" "0000926339" "00001834" "50" "484" "0" "484" "0" "c.484G>C" "r.(?)" "p.(Asp162His)" "" "0000926340" "00001834" "30" "333" "12" "333" "12" "c.333+12G>A" "r.(=)" "p.(=)" "" "0000930650" "00001834" "30" "2217" "0" "2217" "0" "c.2217C>T" "r.(?)" "p.(Ile739=)" "" "0000950710" "00001834" "50" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Arg695Gln)" "" "0000950711" "00001834" "50" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Val549Met)" "" "0000950712" "00001834" "50" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Trp)" "" "0000968472" "00001834" "50" "1907" "0" "1907" "0" "c.1907T>G" "r.(?)" "p.(Phe636Cys)" "" "0000982018" "00001834" "50" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(Tyr415Cys)" "" "0000982019" "00001834" "50" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Ala200Thr)" "" "0000984946" "00001834" "90" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0001002515" "00001834" "50" "2722" "-28" "2740" "0" "c.2722-28_2740dup" "r.(?)" "p.(Leu914*)" "" "0001002516" "00001834" "30" "1936" "0" "1936" "0" "c.1936A>G" "r.(?)" "p.(Thr646Ala)" "" "0001002517" "00001834" "50" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616His)" "" "0001002518" "00001834" "50" "1568" "0" "1568" "0" "c.1568A>G" "r.(?)" "p.(Gln523Arg)" "" "0001002519" "00001834" "50" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Leu473Phe)" "" "0001002520" "00001834" "50" "1222" "5" "1222" "5" "c.1222+5G>T" "r.spl?" "p.?" "" "0001002521" "00001834" "50" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Ter)" "" "0001002522" "00001834" "50" "497" "0" "497" "0" "c.497T>G" "r.(?)" "p.(Ile166Ser)" "" "0001015421" "00001834" "70" "2251" "0" "2251" "0" "c.2251A>G" "r.(?)" "p.(Arg751Gly)" "" "0001015422" "00001834" "30" "1824" "0" "1824" "0" "c.1824G>A" "r.(?)" "p.(=)" "" "0001015423" "00001834" "50" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Thr181Met)" "" "0001026751" "00001834" "50" "1624" "0" "1624" "0" "c.1624A>G" "r.(?)" "p.(Ile542Val)" "" "0001026752" "00001834" "50" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "" "0001041292" "00001834" "50" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Glu759Lys)" "" "0001041293" "00001834" "50" "1992" "5" "1992" "5" "c.1992+5G>A" "r.spl?" "p.?" "" "0001041294" "00001834" "50" "1919" "0" "1919" "0" "c.1919C>A" "r.(?)" "p.(Ala640Asp)" "" "0001041295" "00001834" "50" "1811" "0" "1811" "0" "c.1811A>G" "r.(?)" "p.(Asn604Ser)" "" "0001041296" "00001834" "50" "1672" "-1" "1672" "-1" "c.1672-1G>A" "r.spl?" "p.?" "" "0001041297" "00001834" "50" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Tyr93Cys)" "" "0001046576" "00001834" "30" "2287" "-16" "2287" "-16" "c.2287-16C>T" "r.(=)" "p.(=)" "" "0001046577" "00001834" "30" "2028" "0" "2028" "0" "c.2028G>A" "r.(?)" "p.(=)" "" "0001046578" "00001834" "50" "1601" "0" "1601" "0" "c.1601T>G" "r.(?)" "p.(Phe534Cys)" "" "0001055635" "00001834" "50" "584" "0" "584" "0" "c.584T>C" "r.(?)" "p.(Ile195Thr)" "" "0001060452" "00001834" "70" "2286" "0" "2286" "0" "c.2286G>A" "r.2286_2287ins2286+1_2286+8" "p.Ala763ValfsTer11" "" "0001066524" "00001834" "50" "272" "0" "272" "0" "c.272A>T" "r.(?)" "p.(Asp91Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 79 "{{screeningid}}" "{{variantid}}" "0000034665" "0000061784" "0000034666" "0000061785" "0000034667" "0000061786" "0000034668" "0000061787" "0000034669" "0000061788" "0000034670" "0000061789" "0000034671" "0000061790" "0000034672" "0000061791" "0000034673" "0000061792" "0000050005" "0000078924" "0000050161" "0000079113" "0000118315" "0000194407" "0000118316" "0000194408" "0000118317" "0000194409" "0000209595" "0000439754" "0000220063" "0000454956" "0000265021" "0000595604" "0000270478" "0000604236" "0000282932" "0000638671" "0000292703" "0000649392" "0000292704" "0000649393" "0000301098" "0000663993" "0000301148" "0000664043" "0000301149" "0000664044" "0000301248" "0000664143" "0000301258" "0000664153" "0000301268" "0000664163" "0000301271" "0000664166" "0000305661" "0000669349" "0000319151" "0000701819" "0000319151" "0000701825" "0000325791" "0000708951" "0000325792" "0000708952" "0000325793" "0000708953" "0000325794" "0000708954" "0000325795" "0000708955" "0000325796" "0000708956" "0000325797" "0000708957" "0000325798" "0000708958" "0000325799" "0000708959" "0000325800" "0000708960" "0000325801" "0000708961" "0000325802" "0000708962" "0000325803" "0000708963" "0000325804" "0000708964" "0000325805" "0000708965" "0000325806" "0000708966" "0000325807" "0000708967" "0000325808" "0000708968" "0000325809" "0000708969" "0000325810" "0000708970" "0000325811" "0000708971" "0000325812" "0000708972" "0000325813" "0000708973" "0000325814" "0000708974" "0000325815" "0000708975" "0000325816" "0000708976" "0000325817" "0000708977" "0000325818" "0000708978" "0000325819" "0000708979" "0000325820" "0000708980" "0000325821" "0000708981" "0000325822" "0000708982" "0000325823" "0000708983" "0000325824" "0000708984" "0000325825" "0000708985" "0000325826" "0000708986" "0000325827" "0000708987" "0000325828" "0000708988" "0000325829" "0000708989" "0000325830" "0000708990" "0000325831" "0000708991" "0000325832" "0000708992" "0000375833" "0000787184" "0000391294" "0000821053" "0000399745" "0000832420" "0000400262" "0000833069" "0000427426" "0000904786" "0000472040" "0001060452"