### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = WARS)
# 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}}"
"WARS" "tryptophanyl-tRNA synthetase" "14" "q32.2" "unknown" "NC_000014.8" "UD_132084419466" "" "http://www.LOVD.nl/WARS1" "" "1" "12729" "7453" "191050" "1" "1" "1" "1" "NOTE: gene name changed from WARS to WARS1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/WARS_codingDNA.html" "1" "" "NOTE: gene name changed from WARS to WARS1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-20 17:02:26" "00000" "2024-10-29 21:08:56"
## 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}}"
"00022706" "WARS" "transcript variant 1" "004" "NM_004184.3" "" "NP_004175.2" "" "" "" "-381" "2503" "1416" "100841927" "100800125" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"05111" "HMN" "neuropathy, motor, distal, hereditary (HMN)" "" "" "" "" "" "00006" "2016-01-11 01:33:03" "00006" "2016-03-20 12:15:43"
"05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" ""
"06237" "HMN9" "Neuronopathy, distal hereditary motor, type IX" "AD" "617721" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"WARS" "05111"
"WARS" "06237"
## Individuals ## Do not remove or alter this header ##
## Count = 30
"{{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}}"
"00408321" "" "" "" "2" "" "02404" "{PMID:Lin 2022:35815345}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam1Ind1"
"00408322" "" "" "00408321" "1" "" "02404" "{PMID:Lin 2022:35815345}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam1Ind2"
"00408325" "" "" "" "1" "" "02404" "{PMID:Lin 2022:35815345}" "6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam2Ind3"
"00409258" "" "" "" "3" "" "00006" "{PMID:Tsai 2017:28369220}" "3-generation family, 6 affected (3F, 3M)" "M" "" "Taiwan" "" "0" "" "" "China;Han" "FamAPatII3"
"00409259" "" "" "00409258" "1" "" "00006" "{PMID:Tsai 2017:28369220}" "daughter" "F" "" "Taiwan" "" "0" "" "" "China;Han" "FamAPatIII2"
"00409260" "" "" "00409258" "1" "" "00006" "{PMID:Tsai 2017:28369220}" "son" "M" "" "Taiwan" "" "0" "" "" "China;Han" "FamAPatIII3"
"00409261" "" "" "" "3" "" "00006" "{PMID:Tsai 2017:28369220}" "3-generation family, 3 affected (3M)" "M" "" "Taiwan" "" "0" "" "" "" "FamBPaII2"
"00409262" "" "" "00409261" "1" "" "00006" "{PMID:Tsai 2017:28369220}" "son" "M" "" "Taiwan" "" "0" "" "" "" "FamBPaIII1"
"00409263" "" "" "00409261" "1" "" "00006" "{PMID:Tsai 2017:28369220}" "son" "M" "" "Taiwan" "" "0" "" "" "" "FamBPaIII2"
"00409264" "" "" "" "1" "" "00006" "{PMID:Tsai 2017:28369220}" "2-generation family, 3 affected (F, 2M)" "F" "" "Belgium" "" "0" "" "" "white" "FamCPatII1"
"00409265" "" "" "" "1" "" "00006" "{PMID:Li 2019:31321409}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "Han" "patient"
"00409266" "" "" "" "5" "" "00006" "{PMID:Wang 2019:31069783}" "3-generation family, 5 affected (2F, 3M)" "M" "" "China" "" "0" "" "" "Han" "FamPatI1"
"00409267" "" "" "00409266" "1" "" "00006" "{PMID:Wang 2019:31069783}" "son" "M" "" "China" "" "0" "" "" "Han" "FamPatII1"
"00409268" "" "" "00409266" "1" "" "00006" "{PMID:Wang 2019:31069783}" "son" "M" "" "China" "" "0" "" "" "Han" "FamPatII3"
"00409269" "" "" "00409266" "1" "" "00006" "{PMID:Wang 2019:31069783}" "granddaughter" "F" "" "China" "" "0" "" "" "Han" "FamPatIII1"
"00409270" "" "" "00409266" "1" "" "00006" "{PMID:Wang 2019:31069783}" "granddaughter" "F" "" "China" "" "0" "" "" "Han" "FamPatIII2"
"00409272" "" "" "" "1" "" "00006" "{PMID:Okamoto 2022:34585293}" "" "F" "" "Japan" "" "0" "" "" "" "Pat1"
"00409290" "" "" "" "2" "" "00006" "{PMID:Nam 2022:34813128}" "4-generation family, affected father/daughter" "F;M" "" "Korea" "" "0" "" "" "" "FamFC377"
"00409291" "" "" "" "3" "" "00006" "{PMID:Nam 2022:34813128}" "2-generation family, affected mother/2 sons" "F;M" "" "Korea" "" "0" "" "" "" "FamFC145"
"00409292" "" "" "" "10" "" "00006" "{PMID:Nam 2022:34813128}" "4-generation family, 10 affected (5F, 5M)" "F;M" "" "Korea" "" "0" "" "" "" "FamFC825"
"00409293" "" "" "" "1" "" "00006" "{PMID:Nam 2022:34813128}" "2-generation family, 1 affected" "M" "" "Korea" "" "0" "" "" "" "FamFC855"
"00409294" "" "" "" "8" "" "00006" "{PMID:Nam 2022:34813128}" "4-generation family, 8 affected (2F, 6M)" "F;M" "" "Korea" "" "0" "" "" "" "FamFC1065"
"00409295" "" "" "" "2" "" "00006" "{PMID:Nam 2022:34813128}" "2-generation family, affected mother/son" "F;M" "" "Korea" "" "0" "" "" "" "FamFC1125"
"00409296" "" "" "" "2" "" "00006" "{PMID:Nam 2022:34813128}" "2-generation family, affected mother/daughter" "F" "" "Korea" "" "0" "" "" "" "FamFC1086"
"00409297" "" "" "" "1" "" "00006" "{PMID:Nam 2022:34813128}" "2-generation family, 1 affected" "M" "" "Korea" "" "0" "" "" "" "FamFC357"
"00409298" "" "" "" "1" "" "00006" "{PMID:Nam 2022:34813128}" "3-generation family, 1 affected" "M" "" "Korea" "" "0" "" "" "" "FamFC862"
"00409299" "" "" "" "1" "" "00006" "{PMID:Nam 2022:34813128}" "2-generation family, 1 affected" "M" "" "Korea" "" "0" "" "" "" "FamFC885"
"00409300" "" "" "" "1" "" "00006" "{PMID:Nam 2022:34813128}" "3-generation family, 1 affected" "M" "" "Korea" "" "0" "" "" "" "FamFC415"
"00409301" "" "" "" "2" "" "00006" "{PMID:Nam 2022:34813128}" "2-generation family, affected mother/son" "F;M" "" "Korea" "" "0" "" "" "" "FamFC301"
"00409302" "" "" "" "1" "" "00006" "{PMID:Nam 2022:34813128}" "2-generation family, 1 affected" "M" "" "Korea" "" "0" "" "" "" "FamFC633"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 30
"{{individualid}}" "{{diseaseid}}"
"00408321" "00198"
"00408322" "00198"
"00408325" "00198"
"00409258" "05111"
"00409259" "05111"
"00409260" "05111"
"00409261" "05111"
"00409262" "05111"
"00409263" "05111"
"00409264" "05111"
"00409265" "05111"
"00409266" "05111"
"00409267" "05111"
"00409268" "05111"
"00409269" "05111"
"00409270" "05111"
"00409272" "00198"
"00409290" "05113"
"00409291" "05113"
"00409292" "05113"
"00409293" "05113"
"00409294" "05113"
"00409295" "05113"
"00409296" "05113"
"00409297" "05113"
"00409298" "05113"
"00409299" "05113"
"00409300" "05113"
"00409301" "05113"
"00409302" "05113"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05111, 05113, 06237
## Count = 30
"{{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}}"
"0000300447" "00198" "00408321" "02404" "Familial, autosomal recessive" "20y" "This patient is part of a series that defines an autosomal recessive phenotype due to biallelic variants in WARS1." "" "" "" "" "" "" "" "" "" "Short stature, microcephaly, hearing impairment" ""
"0000300450" "00198" "00408322" "02404" "Familial, autosomal recessive" "16y" "This patient is part of a series that defines an autosomal recessive phenotype due to biallelic variants in WARS1." "" "" "" "" "" "" "" "" "" "Severe delayed developmental milestone/intellectual disability, hypotonia, microcepha,y short stature, hearing impairment" ""
"0000300451" "00198" "00408325" "02404" "Familial, autosomal recessive" "05y" "This patient is part of a series that defines an autosomal recessive phenotype due to biallelic variants in WARS1." "" "" "" "" "" "" "" "" "" "Global developmental delay, complex partial epilepsy, central adrenal insufficiency, cortical blindness, and multiple brain abnormalities" ""
"0000301375" "05111" "00409258" "00006" "Familial, autosomal dominant" "64y" "see paper; ..." "12y" "" "" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301376" "05111" "00409259" "00006" "Familial, autosomal dominant" "25y" "see paper; ..." "10y" "" "" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301377" "05111" "00409260" "00006" "Familial, autosomal dominant" "30y" "see paper; ..." "13y" "" "" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301378" "05111" "00409261" "00006" "Familial, autosomal dominant" "58y" "see paper; ..." "12y" "" "" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301379" "05111" "00409262" "00006" "Familial, autosomal dominant" "22y" "see paper; ..." "13y" "" "" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301380" "05111" "00409263" "00006" "Familial, autosomal dominant" "20y" "see paper; ..." "13y" "" "" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301381" "05111" "00409264" "00006" "Familial, autosomal dominant" "45y" "see paper; ..." "9y" "" "" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301382" "05111" "00409265" "00006" "Isolated (sporadic)" "35y" "see paper; ..., 10y-progressive weakness and muscle atrophy of the lower limbs" "10y" "" "" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301383" "05111" "00409266" "00006" "Familial, autosomal dominant" "79y" "see paper; ..., abnormal gait; distal weakness upper limbs 3, 4, 3; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 1, 1; proximal weakness lower limbs 5, 4; muscle atrophy upper and lower limbs; no hyperpathia upper and lower limbs; tendon reflexes reduced upper limbs/lost lower limbs; gait disturbance steppage; claw hands; pes cavus; foot drop; Charcot-Marie-Tooth examination score 10" "23y" "" "abnormal gait" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301384" "05111" "00409267" "00006" "Familial, autosomal dominant" "53y" "see paper; ..., abnormal gait; distal weakness upper limbs 3, 3, 3; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 1, 1; proximal weakness lower limbs 5, 4; muscle atrophy upper and lower limbs; no hyperpathia upper and lower limbs; tendon reflexes normal upper limbs/lost lower limbs; gait disturbance steppage; claw hands; pes cavus; foot drop; Charcot-Marie-Tooth examination score 9" "17y" "" "abnormal gait" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301385" "05111" "00409268" "00006" "Familial, autosomal dominant" "51y" "see paper; ..., abnormal gait; distal weakness upper limbs 3, 3, 3; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 1, 1; proximal weakness lower limbs 5, 4; muscle atrophy upper and lower limbs; no hyperpathia upper and lower limbs; tendon reflexes reduced upper limbs/lost lower limbs; gait disturbance steppage; claw hands; pes cavus; foot drop; Charcot-Marie-Tooth examination score 9" "18y" "" "abnormal gait" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301386" "05111" "00409269" "00006" "Familial, autosomal dominant" "18y" "see paper; ..., abnormal gait; distal weakness upper limbs 4, 5, 4; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 3, 4; proximal weakness lower limbs 5, 5; muscle atrophy upper and lower limbs; no sensory findings upper and lower limbs; tendon reflexes normal upper limbs/lost lower limbs; gait disturbance steppage; no claw hands; no pes cavus; foot drop; Charcot-Marie-Tooth examination score 8" "15y" "" "abnormal gait" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301387" "05111" "00409270" "00006" "Familial, autosomal dominant" "19y" "see paper; ..., abnormal gait; distal weakness upper limbs 4, 4, 4; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 3, 3; proximal weakness lower limbs 5, 5; muscle atrophy upper and lower limbs; hypoalgesia upper and lower limbs; tendon reflexes normal upper limbs/lost lower limbs; gait disturbance steppage; no claw hands; no pes cavus; foot drop; Charcot-Marie-Tooth examination score 6" "16y" "" "abnormal gait" "" "" "" "" "" "HMN9" "distal hereditary motor neuropathy" ""
"0000301389" "00198" "00409272" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., intellectual disability, epilepsy, microcephaly" "" "" "" "" "" "" "" "" "" "" ""
"0000301407" "05113" "00409290" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000301408" "05113" "00409291" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000301409" "05113" "00409292" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000301410" "05113" "00409293" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000301411" "05113" "00409294" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000301412" "05113" "00409295" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000301413" "05113" "00409296" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000301414" "05113" "00409297" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000301415" "05113" "00409298" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000301416" "05113" "00409299" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000301417" "05113" "00409300" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000301418" "05113" "00409301" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
"0000301419" "05113" "00409302" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 30
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000409578" "00408321" "1" "02404" "02404" "2022-04-20 13:12:11" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing"
"0000409581" "00408322" "1" "02404" "02404" "2022-04-20 13:17:30" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing"
"0000409582" "00408325" "1" "02404" "02404" "2022-04-20 13:21:29" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing"
"0000410522" "00409258" "1" "00006" "00006" "2022-05-06 10:25:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410523" "00409259" "1" "00006" "00006" "2022-05-06 10:25:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410524" "00409260" "1" "00006" "00006" "2022-05-06 10:25:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410525" "00409261" "1" "00006" "00006" "2022-05-06 10:25:25" "" "" "SEQ" "DNA" "" ""
"0000410526" "00409262" "1" "00006" "00006" "2022-05-06 10:25:25" "" "" "SEQ" "DNA" "" ""
"0000410527" "00409263" "1" "00006" "00006" "2022-05-06 10:25:25" "" "" "SEQ" "DNA" "" ""
"0000410528" "00409264" "1" "00006" "00006" "2022-05-06 10:25:25" "" "" "SEQ" "DNA" "" ""
"0000410529" "00409265" "1" "00006" "00006" "2022-05-06 10:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410530" "00409266" "1" "00006" "00006" "2022-05-06 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410531" "00409267" "1" "00006" "00006" "2022-05-06 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410532" "00409268" "1" "00006" "00006" "2022-05-06 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410533" "00409269" "1" "00006" "00006" "2022-05-06 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410534" "00409270" "1" "00006" "00006" "2022-05-06 10:54:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410536" "00409272" "1" "00006" "00006" "2022-05-06 11:18:23" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000410554" "00409290" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410555" "00409291" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410556" "00409292" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410557" "00409293" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410558" "00409294" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410559" "00409295" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410560" "00409296" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410561" "00409297" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410562" "00409298" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410563" "00409299" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410564" "00409300" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410565" "00409301" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000410566" "00409302" "1" "00006" "00006" "2022-05-06 12:26:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{geneid}}"
"0000410524" "ABCC6"
"0000410525" "ABCC6"
"0000410526" "ABCC6"
"0000410527" "ABCC6"
"0000410528" "ABCC6"
## 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 = 55
"{{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}}"
"0000551142" "0" "30" "14" "100795375" "100795375" "subst" "0.00454147" "01804" "SLC25A47_000001" "g.100795375C>T" "" "" "" "SLC25A47(NM_207117.2):c.640C>T (p.(Arg214Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100329038C>T" "" "likely benign" ""
"0000551143" "0" "30" "14" "100795978" "100795978" "subst" "0.007172" "01804" "SLC25A47_000002" "g.100795978C>T" "" "" "" "SLC25A47(NM_207117.2):c.923C>T (p.(Thr308Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100329641C>T" "" "likely benign" ""
"0000551144" "0" "10" "14" "100801384" "100801384" "subst" "0.00348291" "02330" "SLC25A47_000003" "g.100801384G>A" "" "" "" "WARS1(NM_004184.4):c.1255-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100335047G>A" "" "benign" ""
"0000551145" "0" "30" "14" "100803423" "100803423" "subst" "0.00546621" "02330" "WARS_000001" "g.100803423G>A" "" "" "" "WARS1(NM_004184.4):c.1230C>T (p.D410=), WARS1(NM_173701.2):c.1230C>T (p.D410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100337086G>A" "" "likely benign" ""
"0000551146" "0" "10" "14" "100808845" "100808845" "subst" "0.757379" "02330" "WARS_000002" "g.100808845G>A" "" "" "" "WARS1(NM_004184.4):c.1003C>T (p.L335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100342508G>A" "" "benign" ""
"0000551147" "0" "10" "14" "100813077" "100813077" "subst" "0.762888" "02330" "WARS_000003" "g.100813077T>C" "" "" "" "WARS1(NM_004184.4):c.826+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100346740T>C" "" "benign" ""
"0000551148" "0" "10" "14" "100828196" "100828196" "subst" "0.00158787" "02330" "WARS_000004" "g.100828196C>T" "" "" "" "WARS1(NM_004184.4):c.162G>A (p.A54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100361859C>T" "" "benign" ""
"0000551149" "0" "30" "14" "100828198" "100828198" "subst" "0.000714761" "02330" "WARS_000005" "g.100828198C>A" "" "" "" "WARS1(NM_004184.4):c.160G>T (p.A54S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100361861C>A" "" "likely benign" ""
"0000551150" "0" "10" "14" "100835498" "100835498" "subst" "0.00325513" "02330" "WARS_000006" "g.100835498G>C" "" "" "" "WARS1(NM_004184.4):c.25C>G (p.L9V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100369161G>C" "" "benign" ""
"0000551152" "0" "30" "14" "100835602" "100835602" "subst" "0" "01804" "WARS_000008" "g.100835602T>G" "" "" "" "WARS(NM_004184.3):c.-73-7A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100369265T>G" "" "likely benign" ""
"0000679858" "0" "30" "14" "100803422" "100803422" "subst" "0.000479184" "02326" "WARS_000009" "g.100803422C>T" "" "" "" "WARS1(NM_004184.4):c.1231G>A (p.D411N), WARS1(NM_173701.2):c.1231G>A (p.D411N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679859" "0" "30" "14" "100835498" "100835498" "subst" "0.00325513" "02326" "WARS_000006" "g.100835498G>C" "" "" "" "WARS1(NM_004184.4):c.25C>G (p.L9V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000846763" "3" "70" "14" "100835522" "100835522" "subst" "0" "02404" "WARS_000010" "g.100835522T>C" "" "{PMID:Lin 2022:35815345}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100369185T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000846766" "3" "70" "14" "100835522" "100835522" "subst" "0" "02404" "WARS_000010" "g.100835522T>C" "" "{PMID:Lin 2022:35815345}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100369185T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000846767" "3" "70" "14" "100801373" "100801373" "subst" "0.000436261" "02404" "WARS_000011" "g.100801373C>T" "" "{PMID:Lin 2022:35815345}" "" "" "" "Germline" "yes" "" "0" "" "" "g.100335036C>T" "" "VUS (!)" "ACMG"
"0000847845" "10" "90" "14" "100813139" "100813139" "subst" "0" "00006" "WARS_000018" "g.100813139T>C" "" "{PMID:Tsai 2017:28369220}" "" "" "not in 2224 control chromosomes" "Germline" "" "" "0" "" "" "g.100346802T>C" "" "pathogenic (dominant)" ""
"0000847846" "11" "90" "14" "100813139" "100813139" "subst" "0" "00006" "WARS_000018" "g.100813139T>C" "" "{PMID:Tsai 2017:28369220}" "" "" "not in 2224 control chromosomes" "Germline" "" "" "0" "" "" "g.100346802T>C" "" "pathogenic (dominant)" ""
"0000847847" "11" "90" "14" "100813139" "100813139" "subst" "0" "00006" "WARS_000018" "g.100813139T>C" "" "{PMID:Tsai 2017:28369220}" "" "" "not in 2224 control chromosomes" "Germline" "" "" "0" "" "" "g.100346802T>C" "" "pathogenic (dominant)" ""
"0000847848" "0" "90" "14" "100813139" "100813139" "subst" "0" "00006" "WARS_000018" "g.100813139T>C" "" "{PMID:Tsai 2017:28369220}" "" "" "not in 2224 control chromosomes" "Germline" "" "" "0" "" "" "g.100346802T>C" "" "pathogenic (dominant)" ""
"0000847849" "11" "90" "14" "100813139" "100813139" "subst" "0" "00006" "WARS_000018" "g.100813139T>C" "" "{PMID:Tsai 2017:28369220}" "" "" "not in 2224 control chromosomes" "Germline" "" "" "0" "" "" "g.100346802T>C" "" "pathogenic (dominant)" ""
"0000847850" "11" "90" "14" "100813139" "100813139" "subst" "0" "00006" "WARS_000018" "g.100813139T>C" "" "{PMID:Tsai 2017:28369220}" "" "" "not in 2224 control chromosomes" "Germline" "" "" "0" "" "" "g.100346802T>C" "" "pathogenic (dominant)" ""
"0000847851" "10" "90" "14" "100813139" "100813139" "subst" "0" "00006" "WARS_000018" "g.100813139T>C" "" "{PMID:Tsai 2017:28369220}" "" "" "" "Germline" "" "" "0" "" "" "g.100346802T>C" "" "pathogenic (dominant)" ""
"0000847852" "0" "30" "14" "100801301" "100801301" "subst" "1.64053E-5" "00006" "WARS_000015" "g.100801301C>A" "" "{PMID:Tsai 2017:28369220}" "" "" "variant found in 1 unaffected individual and reported in controls" "Germline" "" "rs139914390" "0" "" "" "g.100334964C>A" "" "likely benign" ""
"0000847853" "11" "30" "14" "100801301" "100801301" "subst" "1.64053E-5" "00006" "WARS_000015" "g.100801301C>A" "" "{PMID:Tsai 2017:28369220}" "" "" "variant found in 1 unaffected individual and reported in controls" "Germline" "" "rs139914390" "0" "" "" "g.100334964C>A" "" "likely benign" ""
"0000847854" "11" "30" "14" "100801301" "100801301" "subst" "1.64053E-5" "00006" "WARS_000015" "g.100801301C>A" "" "{PMID:Tsai 2017:28369220}" "" "" "variant found in 1 unaffected individual and reported in controls" "Germline" "" "rs139914390" "0" "" "" "g.100334964C>A" "" "likely benign" ""
"0000847855" "0" "90" "14" "100826900" "100826900" "subst" "0" "00006" "WARS_000012" "g.100826900A>T" "" "{PMID:Li 2019:31321409}" "" "" "" "De novo" "" "" "0" "" "" "g.100360563A>T" "" "pathogenic (dominant)" ""
"0000847856" "0" "70" "14" "100808907" "100808907" "subst" "0" "00006" "WARS_000017" "g.100808907T>C" "" "{PMID:Wang 2019:31069783}" "" "" "ACMG PM1, PM2, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.100342570T>C" "" "likely pathogenic (dominant)" ""
"0000847857" "11" "70" "14" "100808907" "100808907" "subst" "0" "00006" "WARS_000017" "g.100808907T>C" "" "{PMID:Wang 2019:31069783}" "" "" "ACMG PM1, PM2, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.100342570T>C" "" "likely pathogenic (dominant)" ""
"0000847858" "11" "70" "14" "100808907" "100808907" "subst" "0" "00006" "WARS_000017" "g.100808907T>C" "" "{PMID:Wang 2019:31069783}" "" "" "ACMG PM1, PM2, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.100342570T>C" "" "likely pathogenic (dominant)" ""
"0000847859" "11" "70" "14" "100808907" "100808907" "subst" "0" "00006" "WARS_000017" "g.100808907T>C" "" "{PMID:Wang 2019:31069783}" "" "" "ACMG PM1, PM2, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.100342570T>C" "" "likely pathogenic (dominant)" ""
"0000847860" "11" "70" "14" "100808907" "100808907" "subst" "0" "00006" "WARS_000017" "g.100808907T>C" "" "{PMID:Wang 2019:31069783}" "" "" "ACMG PM1, PM2, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.100342570T>C" "" "likely pathogenic (dominant)" ""
"0000847864" "1" "90" "14" "100801286" "100801286" "subst" "4.10078E-6" "00006" "WARS_000013" "g.100801286G>A" "" "{PMID:Okamoto 2022:34585293}" "" "" "ACMG PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.100334949G>A" "" "VUS" "ACMG"
"0000847865" "2" "90" "14" "100808851" "100808851" "subst" "0" "00006" "WARS_000014" "g.100808851C>T" "" "{PMID:Okamoto 2022:34585293}" "" "" "ACMG PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.100342514C>T" "" "VUS" "ACMG"
"0000847887" "11" "90" "7" "30642678" "30642678" "subst" "0" "00006" "WARS_000001" "g.30642678G>A" "" "{PMID:Nam 2022:34813128}" "" "" "" "Germline" "" "rs1554337369" "0" "" "" "g.30603062G>A" "" "pathogenic (dominant)" "ACMG"
"0000847888" "21" "90" "7" "30649259" "30649259" "subst" "0" "00006" "WARS_000002" "g.30649259C>T" "" "{PMID:Nam 2022:34813128}" "" "" "" "Germline" "" "rs1554337974" "0" "" "" "g.30609643C>T" "" "pathogenic (dominant)" "ACMG"
"0000847889" "1" "70" "7" "30651837" "30651837" "subst" "0" "00006" "GARS_000068" "g.30651837C>A" "" "{PMID:Nam 2022:34813128}" "" "" "" "Germline" "" "" "0" "" "" "g.30612221C>A" "" "likely pathogenic (dominant)" "ACMG"
"0000847890" "0" "70" "7" "30673427" "30673427" "subst" "0" "00006" "WARS_000003" "g.30673427C>A" "" "{PMID:Nam 2022:34813128}" "" "" "" "De novo" "" "" "0" "" "" "g.30633811C>A" "" "likely pathogenic (dominant)" "ACMG"
"0000847891" "1" "90" "16" "70302259" "70302259" "subst" "0" "00006" "AARS_000001" "g.70302259C>T" "" "{PMID:Nam 2022:34813128}" "" "" "" "Germline" "" "rs267606621" "0" "" "" "g.70268356C>T" "" "pathogenic (dominant)" "ACMG"
"0000847892" "0" "70" "16" "70301616" "70301616" "subst" "1.2182E-5" "00006" "WARS_000001" "g.70301616G>A" "" "{PMID:Nam 2022:34813128}" "" "" "" "Germline/De novo (untested)" "" "rs759713590" "0" "" "" "g.70267713G>A" "" "likely pathogenic (dominant)" "ACMG"
"0000847893" "0" "90" "5" "140059374" "140059374" "subst" "0" "00006" "HARS_000021" "g.140059374G>A" "" "{PMID:Nam 2022:34813128}" "" "" "" "Germline/De novo (untested)" "" "rs143473232" "0" "" "" "g.140679789G>A" "" "pathogenic (dominant)" "ACMG"
"0000847894" "0" "70" "5" "140056286" "140056286" "subst" "0" "00006" "WARS_000001" "g.140056286T>C" "" "{PMID:Nam 2022:34813128}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.140676701T>C" "" "likely pathogenic (dominant)" "ACMG"
"0000847895" "0" "70" "14" "100813158" "100813158" "subst" "0" "00006" "WARS_000019" "g.100813158C>T" "" "{PMID:Nam 2022:34813128}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.100346821C>T" "" "likely pathogenic (dominant)" "ACMG"
"0000847896" "0" "70" "14" "100808781" "100808781" "subst" "8.12315E-6" "00006" "WARS_000016" "g.100808781T>A" "" "{PMID:Nam 2022:34813128}" "" "" "" "Germline/De novo (untested)" "" "rs756503817" "0" "" "" "g.100342444T>A" "" "likely pathogenic (dominant)" "ACMG"
"0000847897" "0" "70" "1" "33276330" "33276331" "delins" "0" "00006" "YARS_000004" "g.33276330_33276331delinsAT" "" "{PMID:Nam 2022:34813128}" "" "241_242delGAinsAT" "" "Germline/De novo (untested)" "" "rs786204003" "0" "" "" "g.32810729_32810730delinsAT" "" "likely pathogenic (dominant)" "ACMG"
"0000847898" "21" "70" "1" "33272096" "33272096" "subst" "0" "00006" "WARS_000001" "g.33272096T>C" "" "{PMID:Nam 2022:34813128}" "" "" "" "Germline" "" "" "0" "" "" "g.32806495T>C" "" "likely pathogenic (dominant)" "ACMG"
"0000847899" "0" "70" "1" "33272096" "33272096" "subst" "0" "00006" "WARS_000001" "g.33272096T>C" "" "{PMID:Nam 2022:34813128}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32806495T>C" "" "likely pathogenic (dominant)" "ACMG"
"0000891576" "0" "10" "14" "100808726" "100808726" "subst" "0.00665279" "02330" "WARS_000020" "g.100808726A>G" "" "" "" "WARS1(NM_004184.4):c.1113+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000925822" "0" "70" "14" "100820842" "100820842" "subst" "0" "02327" "WARS_000021" "g.100820842G>A" "" "" "" "WARS1(NM_004184.4):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000925823" "0" "50" "14" "100820842" "100820842" "subst" "0" "02325" "WARS_000021" "g.100820842G>A" "" "" "" "WARS1(NM_004184.4):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000950187" "0" "50" "14" "100808878" "100808878" "subst" "0" "02327" "WARS_000022" "g.100808878C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980729" "0" "30" "14" "100801384" "100801384" "subst" "0.00348291" "02326" "SLC25A47_000003" "g.100801384G>A" "" "" "" "WARS1(NM_004184.4):c.1255-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000655" "0" "30" "14" "100801373" "100801373" "subst" "0.000436261" "02326" "WARS_000011" "g.100801373C>T" "" "" "" "WARS1(NM_004184.4):c.1255G>A (p.D419N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001015096" "0" "30" "14" "100803422" "100803422" "subst" "0.000479184" "02330" "WARS_000009" "g.100803422C>T" "" "" "" "WARS1(NM_004184.4):c.1231G>A (p.D411N), WARS1(NM_173701.2):c.1231G>A (p.D411N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001015097" "0" "10" "14" "100808859" "100808859" "subst" "0.00257169" "02330" "WARS_000023" "g.100808859G>A" "" "" "" "WARS1(NM_173701.2):c.989C>T (p.P330L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001015098" "0" "10" "14" "100813108" "100813108" "subst" "0.000377659" "02330" "WARS_000024" "g.100813108G>A" "" "" "" "WARS1(NM_173701.2):c.801C>T (p.F267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
## 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 WARS
## Count = 55
"{{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}}"
"0000551142" "00022706" "30" "7253" "0" "7253" "0" "c.*5837G>A" "r.(=)" "p.(=)" ""
"0000551143" "00022706" "30" "6650" "0" "6650" "0" "c.*5234G>A" "r.(=)" "p.(=)" ""
"0000551144" "00022706" "10" "1255" "-11" "1255" "-11" "c.1255-11C>T" "r.(=)" "p.(=)" ""
"0000551145" "00022706" "30" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(Asp410=)" ""
"0000551146" "00022706" "10" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Leu335=)" ""
"0000551147" "00022706" "10" "826" "6" "826" "6" "c.826+6A>G" "r.(=)" "p.(=)" ""
"0000551148" "00022706" "10" "162" "0" "162" "0" "c.162G>A" "r.(?)" "p.(Ala54=)" ""
"0000551149" "00022706" "30" "160" "0" "160" "0" "c.160G>T" "r.(?)" "p.(Ala54Ser)" ""
"0000551150" "00022706" "10" "25" "0" "25" "0" "c.25C>G" "r.(?)" "p.(Leu9Val)" ""
"0000551152" "00022706" "30" "-73" "-7" "-73" "-7" "c.-73-7A>C" "r.(=)" "p.(=)" ""
"0000679858" "00022706" "30" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Asp411Asn)" ""
"0000679859" "00022706" "30" "25" "0" "25" "0" "c.25C>G" "r.(?)" "p.(Leu9Val)" ""
"0000846763" "00022706" "70" "1" "0" "1" "0" "c.1A>G" "r.?" "p.?" ""
"0000846766" "00022706" "70" "1" "0" "1" "0" "c.1A>G" "r.?" "p.?" ""
"0000846767" "00022706" "70" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Asp419Asn)" ""
"0000847845" "00022706" "90" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(His257Arg)" ""
"0000847846" "00022706" "90" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(His257Arg)" ""
"0000847847" "00022706" "90" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(His257Arg)" ""
"0000847848" "00022706" "90" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(His257Arg)" ""
"0000847849" "00022706" "90" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(His257Arg)" ""
"0000847850" "00022706" "90" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(His257Arg)" ""
"0000847851" "00022706" "90" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(His257Arg)" ""
"0000847852" "00022706" "30" "1327" "0" "1327" "0" "c.1327G>T" "r.(?)" "p.(Ala443Ser)" ""
"0000847853" "00022706" "30" "1327" "0" "1327" "0" "c.1327G>T" "r.(?)" "p.(Ala443Ser)" ""
"0000847854" "00022706" "30" "1327" "0" "1327" "0" "c.1327G>T" "r.(?)" "p.(Ala443Ser)" ""
"0000847855" "00022706" "90" "413" "0" "413" "0" "c.413T>A" "r.(?)" "p.(Phe138Tyr)" "4"
"0000847856" "00022706" "70" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Asp314Gly)" ""
"0000847857" "00022706" "70" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Asp314Gly)" ""
"0000847858" "00022706" "70" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Asp314Gly)" ""
"0000847859" "00022706" "70" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Asp314Gly)" ""
"0000847860" "00022706" "70" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Asp314Gly)" ""
"0000847864" "00022706" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Trp)" ""
"0000847865" "00022706" "90" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Ala333Thr)" ""
"0000847887" "00022706" "70" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Asp200Asn)" ""
"0000847888" "00022706" "70" "794" "0" "794" "0" "c.794C>T" "r.(?)" "p.(Ser265Phe)" ""
"0000847889" "00022706" "70" "1007" "0" "1007" "0" "c.1007C>A" "r.(?)" "p.(Pro336His)" ""
"0000847890" "00022706" "70" "2171" "0" "2171" "0" "c.2171C>A" "r.(?)" "p.(Pro724His)" ""
"0000847891" "00022706" "70" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" ""
"0000847892" "00022706" "70" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390Cys)" ""
"0000847893" "00022706" "70" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Thr132Ile)" ""
"0000847894" "00022706" "90" "1147" "0" "1147" "0" "c.1147A>G" "r.(?)" "p.(Ser383Gly)" ""
"0000847895" "00022706" "90" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Val251Met)" ""
"0000847896" "00022706" "90" "1067" "0" "1067" "0" "c.1067A>T" "r.(?)" "p.(Asn356Ile)" ""
"0000847897" "00022706" "90" "241" "0" "242" "0" "c.241_242delinsAT" "r.(?)" "p.(Asp81Ile)" ""
"0000847898" "00022706" "90" "497" "0" "497" "0" "c.497A>G" "r.(?)" "p.(Tyr166Cys)" ""
"0000847899" "00022706" "90" "497" "0" "497" "0" "c.497A>G" "r.(?)" "p.(Tyr166Cys)" ""
"0000891576" "00022706" "10" "1113" "9" "1113" "9" "c.1113+9T>C" "r.(=)" "p.(=)" ""
"0000925822" "00022706" "70" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" ""
"0000925823" "00022706" "50" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" ""
"0000950187" "00022706" "50" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Ala324Thr)" ""
"0000980729" "00022706" "30" "1255" "-11" "1255" "-11" "c.1255-11C>T" "r.(=)" "p.(=)" ""
"0001000655" "00022706" "30" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Asp419Asn)" ""
"0001015096" "00022706" "30" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Asp411Asn)" ""
"0001015097" "00022706" "10" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Pro330Leu)" ""
"0001015098" "00022706" "10" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 34
"{{screeningid}}" "{{variantid}}"
"0000409578" "0000846763"
"0000409581" "0000846766"
"0000409582" "0000846767"
"0000410522" "0000847845"
"0000410523" "0000847846"
"0000410524" "0000847847"
"0000410525" "0000847848"
"0000410525" "0000847852"
"0000410526" "0000847849"
"0000410526" "0000847853"
"0000410527" "0000847850"
"0000410527" "0000847854"
"0000410528" "0000847851"
"0000410529" "0000847855"
"0000410530" "0000847856"
"0000410531" "0000847857"
"0000410532" "0000847858"
"0000410533" "0000847859"
"0000410534" "0000847860"
"0000410536" "0000847864"
"0000410536" "0000847865"
"0000410554" "0000847887"
"0000410555" "0000847888"
"0000410556" "0000847889"
"0000410557" "0000847890"
"0000410558" "0000847891"
"0000410559" "0000847892"
"0000410560" "0000847893"
"0000410561" "0000847894"
"0000410562" "0000847895"
"0000410563" "0000847896"
"0000410564" "0000847897"
"0000410565" "0000847898"
"0000410566" "0000847899"