### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KARS)
# 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}}"
"KARS"	"lysyl-tRNA synthetase"	"16"	"q23.1"	"unknown"	"LRG_366"	"UD_130734470816"	""	"https://www.LOVD.nl/KARS1"	""	"1"	"6215"	"3735"	"601421"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">NOTE: gene name changed from KARS to KARS1</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/KARS_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">NOTE: gene name changed from KARS to KARS1</font>"	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2021-03-23 10:06:36"	"00000"	"2025-05-05 21:14:00"


## 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}}"
"00010300"	"KARS"	"transcript variant 2"	"001"	"NM_005548.2"	""	"NP_005539.1"	""	""	""	"-48"	"1965"	"1794"	"75681585"	"75661622"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00199"	"CMT2"	"Charcot-Marie-Tooth disease, type 2 (CMT-2)"	""	""	""	""	""	"00006"	"2013-09-13 14:35:15"	"00006"	"2021-12-11 13:56:28"
"03374"	"CMTRIB"	"Charcot-Marie-Tooth disease, recessive intermediate B (CMTRIB)"	"AR"	"613641"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-03-23 10:08:19"
"03486"	"DFNB89"	"deafness, autosomal recessive, type  89 (DFNB89)"	"AR"	"613916"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-03-23 10:08:35"
"05086"	"HL"	"hearing loss (HL)"	""	""	""	""	""	"00006"	"2015-10-23 11:41:05"	"00006"	"2015-10-23 11:43:00"
"05103"	"deafness"	"deafness"	""	""	""	""	""	"00006"	"2015-12-02 12:30:46"	"00006"	"2017-08-25 19:47:08"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"05912"	"DEAPLE"	"deafness, congenital, and adult-onset progressive leukoencephalopathy (DEAPLE)"	"AR"	"619196"	""	""	""	"00006"	"2021-03-23 10:05:35"	""	""
"05913"	"LEPID"	"leukoencephalopathy, progressive, infantile-onset, with/without deafness (LEPID)"	"AR"	"619147"	""	""	""	"00006"	"2021-03-23 10:07:52"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"KARS"	"03374"
"KARS"	"03486"
"KARS"	"05912"
"KARS"	"05913"


## Individuals ## Do not remove or alter this header ##
## Count = 56
"{{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}}"
"00263933"	""	""	""	"1"	""	"01364"	""	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00285110"	""	""	""	"1"	""	"00004"	"{PMID:Lieber 2013:23596069}"	""	"M"	""	"United States"	"03y"	"0"	""	""	""	"Pat1098"
"00285111"	""	""	""	"1"	""	"00004"	"{PMID:McMillan 2015:25330800}"	""	""	""	""	""	"0"	""	""	""	""
"00285112"	""	""	""	"1"	""	"00004"	""	""	""	""	""	""	"0"	""	""	""	""
"00285113"	""	""	""	"1"	""	"00004"	"{PMID:McMillan 2015:25330800}"	""	""	""	""	""	"0"	""	""	""	""
"00285114"	""	""	""	"1"	""	"00004"	"{PMID:Basit 2011:21181198}, {PMID:Szafranski 2015:24824130}"	""	""	""	""	""	"0"	""	""	""	""
"00285115"	""	""	""	"1"	""	"00004"	"{PMID:McLaughlin 2010:20920668}"	"3-generation family, 3 affected (F, 2M)"	"F;M"	""	""	""	"0"	""	""	""	"BABS663"
"00285118"	""	""	""	"1"	""	"00004"	"{PMID:Basit 2011:21181198}, {PMID:Szafranski 2015:24824130}"	""	""	""	""	""	"0"	""	""	""	""
"00285120"	""	""	""	"1"	""	"00004"	"{PMID:McLaughlin 2010:20920668}"	""	""	""	""	""	"0"	""	""	""	"BAB564"
"00309638"	""	""	""	"3"	""	"02404"	"{PMID:Lin 2021:34172899}"	"4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents"	"F"	"yes"	"Iran"	""	"0"	""	""	""	"Fam1IV:1"
"00309646"	""	""	""	"1"	""	"02404"	"{PMID:Lin 2021:34172899}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Pakistan"	"04y07m"	"0"	""	""	""	"Fam2IV:3"
"00309647"	""	""	""	"1"	""	"02404"	"{PMID:Lin 2021:34172899}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"Iran"	""	"0"	""	""	""	"Fam3II:2"
"00309648"	""	""	""	"2"	""	"02404"	"{PMID:Lin 2021:34172899}"	"5-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	"yes"	"Egypt"	""	"0"	""	""	""	"Fam4V:3"
"00309649"	""	""	""	"1"	""	"02404"	"{PMID:Lin 2021:34172899}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"Iran"	""	"0"	""	""	""	"Fam5II:1"
"00309650"	""	""	""	"1"	""	"02404"	"{PMID:Lin 2021:34172899}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"Iran"	""	"0"	""	""	"Arab;Iran"	"Fam6IV:1"
"00309651"	""	""	""	"2"	""	"02404"	"{PMID:Lin 2021:34172899}"	"4-generation family, affected sister/brother, unaffected heterozygous carrier parents"	"F"	"yes"	"Egypt"	""	"0"	""	""	""	"Fam7IV:1"
"00309652"	""	""	""	"2"	""	"02404"	"{PMID:Lin 2021:34172899}"	"4-generation family, affected sister/brother, unaffected heterozygous carrier parents"	"F"	"yes"	"Egypt"	""	"0"	""	""	""	"Fam8IV:1"
"00309653"	""	""	""	"1"	""	"00006"	"{PMID:Sun 2019:31192300}"	""	"F"	""	""	""	"0"	""	""	""	"Pat4"
"00309654"	""	""	""	"1"	""	"00006"	"{PMID:Sun 2019:31192300}"	""	"M"	""	""	""	"0"	""	""	""	"Pat3"
"00309655"	""	""	""	"1"	""	"00006"	"{PMID:Sun 2019:31192300}"	""	"M"	""	""	""	"0"	""	""	""	"Pat2"
"00309656"	""	""	""	"1"	""	"00006"	"{PMID:Sun 2019:31192300}"	""	"F"	""	""	""	"0"	""	""	""	"Pat1"
"00309657"	""	""	""	"7"	""	"00006"	"{PMID:Santos-Cortez 2013:23768514}"	"5-generation family, 7 affected (5F, 2M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam4338"
"00309658"	""	""	""	"4"	""	"00006"	"{PMID:Santos-Cortez 2013:23768514}"	"4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives"	"F;M"	""	"Pakistan"	""	"0"	""	""	""	"Fam4406"
"00309659"	""	""	""	"2"	""	"00006"	"{PMID:Santos-Cortez 2013:23768514}, {DB:DVD}"	"4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives"	"F;M"	""	"Pakistan"	""	"0"	""	""	""	"Fam4284"
"00309660"	""	""	""	"1"	""	"00006"	"{PMID:Ardissone 2018:29615062}, {PMID:Orcesi 2011:21427441}"	""	""	""	"Italy"	"00y20m"	"0"	""	""	""	"PatA"
"00309661"	""	""	""	"1"	""	"00006"	"{PMID:Ardissone 2018:29615062}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"PatB"
"00309662"	""	""	""	"1"	""	"00006"	"{PMID:Ardissone 2018:29615062}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"PatC"
"00314015"	""	""	""	"1"	""	"02404"	"{PMID:Lin 2021:34172899}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Canada"	""	"0"	""	""	"Europe"	"Fam9II:1"
"00314016"	""	""	""	"1"	""	"02404"	"{PMID:Lin 2021:34172899}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"United States"	"13y"	"0"	""	""	""	"Fam10II:4"
"00324436"	""	""	""	"4"	""	"02404"	"{PMID:Lin 2021:34172899}"	"5-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Fam11V:1"
"00324437"	""	""	""	"1"	""	"02404"	"{PMID:Lin 2021:34172899}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"Saudi Arabia"	"09y"	"0"	""	""	""	"Fam12II:1"
"00324438"	""	""	""	"1"	""	"02404"	"{PMID:Lin 2021:34172899}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	""	""	"0"	""	""	"white"	"Fam13II:2"
"00324454"	""	""	""	"1"	""	"02404"	"{PMID:Lin 2021:34172899}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	""	""	"0"	""	""	"Europe"	"Fam14II:2"
"00324455"	""	""	""	"1"	""	"02404"	"{PMID:Lin 2021:34172899}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	""	""	"0"	""	""	""	"Fam15II:1"
"00324456"	""	""	""	"1"	""	"00006"	"{PMID:Scheidecker 2019:31116475}"	"2-generation family 1 affected, unaffected heterozygous carrier parents"	"F"	""	"France"	"33y"	"0"	""	""	""	"patient"
"00324462"	""	""	""	"1"	""	"00006"	"{PMID:Fuchs 2019:29875423}"	""	"M"	""	""	"04y"	"0"	""	""	""	"P4"
"00336011"	""	""	""	"1"	""	"03243"	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	"F"	""	""	""	"0"	""	""	""	"Pat3"
"00336012"	""	""	""	"1"	""	"03243"	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	"M"	""	""	""	"0"	""	""	""	"Pat4"
"00336014"	""	""	""	"1"	""	"03243"	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	"M"	""	""	""	"0"	""	""	""	"Pat1"
"00336015"	""	""	""	"1"	""	"03243"	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	"F"	""	""	""	"0"	""	""	""	"Pat8"
"00336017"	""	""	""	"1"	""	"03243"	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	""	""	""	"0"	""	""	""	"Pat5"
"00336018"	""	""	""	"1"	""	"03243"	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	"M"	""	""	""	"0"	""	""	""	"Pat6"
"00336022"	""	""	""	"1"	""	"03243"	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	"M"	""	""	""	"0"	""	""	""	"Pat7"
"00336023"	""	""	""	"1"	""	"03243"	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	"M"	""	""	""	"0"	""	""	""	"Pat9"
"00336032"	""	""	""	"1"	""	"03243"	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	"M"	""	""	""	"0"	""	""	""	"Pat2"
"00374350"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4543"
"00374770"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-3139"
"00385126"	""	""	""	"1"	""	"00006"	"{PMID:Lin 2021:34172899}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	""	""	"0"	""	""	""	"Fam16II:1"
"00385127"	""	""	"00309648"	"1"	""	"00006"	"{PMID:Lin 2021:34172899}"	""	"M"	"no"	""	""	"0"	""	""	""	"Fam4V:4"
"00385128"	""	""	"00309651"	"1"	""	"00006"	"{PMID:Lin 2021:34172899}"	""	"M"	"no"	""	""	"0"	""	""	""	"Fam7IV:4"
"00385129"	""	""	"00309652"	"1"	""	"00006"	"{PMID:Lin 2021:34172899}"	""	"M"	"no"	""	""	"0"	""	""	""	"Fam8IV:2"
"00385130"	""	""	"00324436"	"1"	""	"00006"	"{PMID:Lin 2021:34172899}"	""	"M"	"no"	""	""	"0"	""	""	""	"Fam11V:2"
"00385131"	""	""	"00324436"	"1"	""	"00006"	"{PMID:Lin 2021:34172899}"	""	"M"	"no"	""	""	"0"	""	""	""	"Fam11V:3"
"00385132"	""	""	"00324436"	"1"	""	"00006"	"{PMID:Lin 2021:34172899}"	""	"M"	"no"	""	""	"0"	""	""	""	"Fam11V:4"
"00428668"	""	""	""	"2"	""	"04147"	"{PMID:Wonkam 2022:35440622}"	"3-generation family, 2 affected (1M,1F), unaffected carrier mother"	"F"	"no"	"Ghana"	""	"0"	""	""	"Africa"	"Fam19"
"00448425"	""	""	""	"1"	""	"00006"	"{PMID:McLaughlin 2010:20920668}"	""	""	""	"United States"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 56
"{{individualid}}"	"{{diseaseid}}"
"00263933"	"00199"
"00285110"	"00198"
"00285111"	"00198"
"00285112"	"05103"
"00285113"	"00198"
"00285114"	"00198"
"00285115"	"00198"
"00285118"	"00198"
"00285120"	"00198"
"00309638"	"05611"
"00309646"	"05611"
"00309647"	"05086"
"00309648"	"05611"
"00309649"	"00198"
"00309650"	"05611"
"00309651"	"05611"
"00309652"	"05611"
"00309653"	"00198"
"00309654"	"00198"
"00309655"	"00198"
"00309656"	"00198"
"00309657"	"05086"
"00309658"	"05086"
"00309659"	"05086"
"00309660"	"00198"
"00309661"	"00198"
"00309662"	"00198"
"00314015"	"05611"
"00314016"	"05611"
"00324436"	"05611"
"00324437"	"05611"
"00324438"	"05086"
"00324454"	"05611"
"00324455"	"05611"
"00324456"	"00198"
"00324462"	"00198"
"00336011"	"05913"
"00336012"	"05913"
"00336014"	"05913"
"00336015"	"05913"
"00336017"	"05913"
"00336018"	"05913"
"00336022"	"05913"
"00336023"	"05913"
"00336032"	"05913"
"00374350"	"00198"
"00374770"	"00198"
"00385126"	"05611"
"00385127"	"05611"
"00385128"	"05611"
"00385129"	"05611"
"00385130"	"05611"
"00385131"	"05611"
"00385132"	"05611"
"00428668"	"03486"
"00448425"	"00000"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00199, 03374, 03486, 05086, 05103, 05611, 05912, 05913
## Count = 54
"{{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}}"
"0000217188"	"00198"	"00285110"	"00008"	"Familial, autosomal recessive"	"03y"	"3y-deceased; hypotonia, global developmental delay, strabismus, ophthalmoplegia, dystonia, elevated plasma alanine and CSF lactate; increased mtDNA levels in muscle and abnormal brainstem auditory-evoked potential"	"00y06m"	""	""	""	""	""	""	""	""	""	""
"0000217189"	"00198"	"00285111"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Visual loss,  progressive microcephaly,  developmental delay,  seizures,  and abnormal subcortical white matter"	""
"0000217190"	"00198"	"00285113"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Visual loss,  progressive microcephaly,  developmental delay,  seizures,  and abnormal subcortical white matter"	""
"0000217191"	"00198"	"00285114"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Hearing impairment,  non-syndromic,  autosomal recessive"	""
"0000217192"	"00198"	"00285115"	"00008"	"Unknown"	""	"see paper; ..., normal MNCVs in all nerves tested, normal amplitudes of evoked nerve response (left median, left ulnar, right median, right ulnar, left peroneal, and left post-tibial nerves), distal motor latencies prolonged; phenotype consistent with hereditary neuropathy, with liability to pressure palsies"	""	""	""	""	""	""	""	""	""	"peripheral neuropathy"	""
"0000217195"	"00198"	"00285118"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Hearing impairment,  non-syndromic,  autosomal recessive"	""
"0000217196"	"00198"	"00285120"	"00008"	"Familial, autosomal recessive"	""	"see paper; ..., intermediate Charcot-Marie-Tooth disease, developmental delay, self-abusive behavior, dysmorphic features, vestibular Schwannoma"	""	""	""	""	""	""	""	""	""	"peripheral neuropathy"	""
"0000218606"	"05103"	"00285112"	"00008"	"Familial, autosomal recessive"	""	"hearing loss (HL), non-syndromic"	""	""	""	""	""	""	""	""	"type 89"	"deafness, autosomal recessive"	""
"0000234966"	"00198"	"00309653"	"00006"	"Familial, autosomal recessive"	"11y"	"developmental delay, hypotonia/spasticity, mild intellectual disability, seizures, bilateral hand tremor and ataxia, mildly elevated lactate, elevated CSF total protein, and slurred speech; MRI brain bilateral deep white matter"	""	""	""	""	""	""	""	""	""	""	""
"0000234967"	"00198"	"00309654"	"00006"	"Familial, autosomal recessive"	"03y"	"failure to thrive, developmental delay, developmental regression, microcephaly, nystagmus, hypotonia, hypertonia/spasticity, hyperreflexia, febrile seizures, and dysphagia; MRI brain cerebellar nuclei calcifications; vision loss, abnormal renal function, abnormal liver ultrasound, progressive joint contractures"	""	""	""	""	""	""	""	""	""	""	""
"0000234968"	"00198"	"00309655"	"00006"	"Familial, autosomal recessive"	"35y"	"neurocognitive decline, spasticity, seizures, ataxia, and abnormal movements; MRI brain bilateral periventricular white matter; primary hypothyroidism"	""	""	""	""	""	""	""	""	""	""	""
"0000234969"	"00198"	"00309656"	"00006"	"Familial, autosomal recessive"	"26y"	"hypotonia/spasticity, mild intellectual disability, slurred speech, ataxia, abnormal movement; MRI brain bilateral frontal white matter"	""	""	""	""	""	""	""	""	""	""	""
"0000234970"	"05086"	"00309657"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"nonsyndromic hearing impairment"	""
"0000234971"	"05086"	"00309658"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"nonsyndromic hearing impairment"	""
"0000234972"	"05086"	"00309659"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"nonsyndromic hearing impairment"	""
"0000234979"	"00198"	"00309660"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., leukoencephalopathy, spinal cord calcifications, deafness, hypochromic microcytic anemia"	""	""	""	""	""	""	""	""	""	"leukoencephalopathy"	""
"0000234980"	"00198"	"00309661"	"00006"	"Familial, autosomal recessive"	"7y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"leukoencephalopathy"	""
"0000234981"	"00198"	"00309662"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"leukoencephalopathy"	""
"0000243000"	"00198"	"00324456"	"00006"	"Familial, autosomal recessive"	"33y"	"see paper; died at 33y, ..., severe neurological and neurosensory disease, optic neuropathy"	""	""	""	""	""	""	""	""	""	"severe neurological and neurosensory disease"	""
"0000243006"	"00198"	"00324462"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., 4y-deceased"	""	""	""	""	""	""	""	""	""	""	""
"0000254749"	"05913"	"00336015"	"00006"	"Familial, autosomal recessive"	"00y10m"	"birth-OFC -3.3 SDS, current OFC -5.2 SDS; growth delay; developmental delay/intellectual disability; no movement disorder; no seizures; oculomotor dysfunction; hearing loss; no immunological and hematological abnormalities; white matter lesions; no cerebral tissue loss; brain calcifications; heart involvement; increased lactate (serum, CSF, or MRS)"	""	""	""	""	""	""	""	""	"LEPID"	""	""
"0000254750"	"05913"	"00336023"	"03243"	"Familial, autosomal recessive"	"17y05m"	"current OFC -1.4; growth delay; developmental delay/intellectual disability; movement disorder; seizures; hearing loss; white matter lesions; cerebral tissue loss; brain calcifications; no heart involvement; increased lactate (serum, CSF, or MRS)"	""	""	""	""	""	""	""	""	"LEPID"	""	""
"0000254751"	"05913"	"00336022"	"03243"	"Familial, autosomal recessive"	"14y"	"birth-OFC -1.7 SDS, current OFC -5.7 SDS; growth delay; developmental delay/intellectual disability; no movement disorder; seizures; no oculomotor dysfunction; hearing loss; no immunological and hematological abnormalities; no white matter lesions; cerebral tissue loss; no brain calcifications; heart involvement; increased lactate (serum, CSF, or MRS)"	""	""	""	""	""	""	""	""	"LEPID"	""	""
"0000254752"	"05913"	"00336018"	"03243"	"Familial, autosomal recessive"	"01y"	"birth-OFC -3.7 SDS, current OFC -5.5 SDS; no growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; no hearing loss; no immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; no brain calcifications; no heart involvement"	""	""	""	""	""	""	""	""	"LEPID"	""	""
"0000254753"	"05913"	"00336017"	"03243"	"Familial, autosomal recessive"	"02y01m"	"birth-OFC -4 SDS, current OFC -6 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; hearing loss; no immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; no brain calcifications; no heart involvement; increased lactate (serum, CSF, or MRS)"	""	""	""	""	""	""	""	""	"LEPID"	""	""
"0000254754"	"05913"	"00336012"	"03243"	"Familial, autosomal recessive"	"03y05m"	"birth-OFC -1.2 SDS, current OFC -3.2 SDS; no growth delay; developmental delay/intellectual disability; no movement disorder; seizures; oculomotor dysfunction; no hearing loss; no immunological and hematological abnormalities; no white matter lesions; no cerebral tissue loss; no brain calcifications"	""	""	""	""	""	""	""	""	"LEPID"	""	""
"0000254755"	"05913"	"00336011"	"03243"	"Familial, autosomal recessive"	"11y02m"	"birth-OFC -3 SDS, current OFC -5 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; no hearing loss; immunological and hematological abnormalities; no white matter lesions; no cerebral tissue loss; no brain calcifications; no heart involvement"	""	""	""	""	""	""	""	""	"LEPID"	""	""
"0000254756"	"05913"	"00336032"	"03243"	"Familial, autosomal recessive"	"01y04m"	"birth-OFC -2.3 SDS, current OFC -4 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; hearing loss; immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; brain calcifications; no heart involvement; increased lactate (serum, CSF, or MRS)"	""	""	""	""	""	""	""	""	"LEPID"	""	""
"0000254757"	"05913"	"00336014"	"03243"	"Familial, autosomal recessive"	"08y"	"birth-OFC -4.7 SDS, current OFC -11.4 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; no oculomotor dysfunction; no hearing loss; immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; no brain calcifications; heart involvement; increased lactate (serum, CSF, or MRS)"	""	""	""	""	""	""	""	""	"LEPID"	""	""
"0000269560"	"00198"	"00374350"	"00006"	"Familial, autosomal recessive"	""	"Axonal neuropathy"	""	""	""	""	""	""	""	""	""	"neuropathy"	""
"0000269980"	"00198"	"00374770"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"leukodystrophy"	""
"0000278907"	"05611"	"00385126"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; regression; no seizures; no ataxia; hypotonia; spasticity; visual impairment; speech; mortality; no dysmorphic facial features; no behavioral abnormalities; no leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000278908"	"05611"	"00309638"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; regression; seizures; ataxia; no hypotonia; spasticity; no visual impairment; no speech; no mortality; dysmorphic facial features; no behavioral abnormalities; leukodystrophy; brain calcification"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278909"	"05611"	"00309646"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; regression; seizures; no ataxia; no hypotonia; spasticity; no visual impairment; no speech; mortality; dysmorphic facial features; no behavioral abnormalities; leukodystrophy; microcephaly"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278910"	"05086"	"00309647"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; no intellectual disability; hearing loss; no regression; no seizures; ataxia; no hypotonia; no spasticity; no speech; no mortality; no dysmorphic facial features; no behavioral abnormalities; leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278911"	"05611"	"00309648"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; no regression; seizures; no ataxia; hypotonia; no spasticity; no visual impairment; no speech; no mortality; dysmorphic facial features; no behavioral abnormalities; no leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278912"	"00198"	"00309649"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; no intellectual disability; no hearing loss; no regression; no seizures; no ataxia; no hypotonia; no spasticity; no visual impairment; speech; no mortality; dysmorphic facial features; no behavioral abnormalities; no leukodystrophy; arthrogryposis, myopathy, mitochondrial"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278913"	"05611"	"00309650"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; no intellectual disability; hearing loss; no regression; no seizures; ataxia; hypotonia; no spasticity; no visual impairment; speech; no mortality; no dysmorphic facial features; no behavioral abnormalities;"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278914"	"05611"	"00309651"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; no regression; no seizures; ataxia; hypotonia; no spasticity; no visual impairment; speech; no mortality; dysmorphic facial features; behavioral abnormalities; leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278915"	"05611"	"00309652"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; no regression; seizures; no ataxia; no hypotonia; no spasticity; no visual impairment; no speech; no mortality; dysmorphic facial features; behavioral abnormalities; no leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278916"	"05611"	"00314015"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; no intellectual disability; hearing loss; no regression; seizures; ataxia; no hypotonia; spasticity; visual impairment; speech; no mortality; no dysmorphic facial features; no behavioral abnormalities; leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278917"	"05611"	"00314016"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; no intellectual disability; regression; seizures; no ataxia; no hypotonia; spasticity; visual impairment; speech; mortality; no dysmorphic facial features; no behavioral abnormalities; leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278918"	"05611"	"00324436"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss, onset from an early neonatal age (probably congenital), 3y-unilaterally cochlear implant; regression; no seizures; no ataxia; no hypotonia; spasticity; visual impairment; speech; no mortality; dysmorphic facial features; behavioral abnormalities; leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278919"	"05611"	"00324437"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; no regression; seizures; no ataxia; hypotonia; no spasticity; mortality; no dysmorphic facial features; no behavioral abnormalities; leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278920"	"05086"	"00324438"	"00006"	"Familial, autosomal recessive"	""	"no developmental delay; no intellectual disability; hearing loss; no regression; seizures; no ataxia; no hypotonia; no spasticity; no visual impairment; no speech; no mortality; no dysmorphic facial features; no behavioral abnormalities; no leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278921"	"05611"	"00324454"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; no regression; seizures; ataxia; hypotonia; no spasticity; visual impairment; no speech; no mortality; dysmorphic facial features; behavioral abnormalities; no leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278922"	"05611"	"00324455"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; hearing loss; regression; seizures; ataxia; hypotonia; no spasticity; no visual impairment; no speech; no mortality; no leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental dealy"	""
"0000278923"	"05611"	"00385127"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; no regression; no seizures; no ataxia; hypotonia; no spasticity; no visual impairment; speech; no mortality; dysmorphic facial features; behavioral abnormalities; leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000278924"	"05611"	"00385128"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; no regression; no seizures; no ataxia; hypotonia; no spasticity; no visual impairment; speech; no mortality; dysmorphic facial features; behavioral abnormalities; leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000278925"	"05611"	"00385129"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; no regression; seizures; no ataxia; hypotonia; no spasticity; no visual impairment; no speech; no mortality; dysmorphic facial features; behavioral abnormalities; no leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000278926"	"05611"	"00385130"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; no regression; seizures; no ataxia; no hypotonia; no spasticity; visual impairment; no mortality; dysmorphic facial features; no behavioral abnormalities; leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000278927"	"05611"	"00385131"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; no regression; no seizures; no ataxia; no hypotonia; spasticity; visual impairment; speech; no mortality; dysmorphic facial features; no behavioral abnormalities; leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000278928"	"05611"	"00385132"	"00006"	"Familial, autosomal recessive"	""	"developmental delay; intellectual disability; hearing loss; no regression; no seizures; no ataxia; no hypotonia; spasticity; no visual impairment; speech; no mortality; dysmorphic facial features; no behavioral abnormalities; no leukodystrophy"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000319573"	"03486"	"00428668"	"04147"	"Familial, autosomal recessive"	""	""	""	""	"HP:0011474"	""	""	""	""	""	"DFNB89"	"Non-syndromic hearing impairment"	""


## Screenings ## Do not remove or alter this header ##
## Count = 57
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000265043"	"00263933"	"1"	"01364"	"01364"	"2015-09-18 12:05:38"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000286260"	"00285110"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286261"	"00285111"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286262"	"00285112"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286263"	"00285113"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286264"	"00285114"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286265"	"00285115"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286268"	"00285118"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286270"	"00285120"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000310783"	"00309638"	"1"	"02404"	"02404"	"2020-08-30 12:43:55"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000310791"	"00309646"	"1"	"02404"	"02404"	"2020-08-30 13:02:17"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000310792"	"00309647"	"1"	"02404"	"02404"	"2020-08-30 13:15:08"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000310793"	"00309648"	"1"	"02404"	"02404"	"2020-08-30 13:25:30"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000310794"	"00309649"	"1"	"02404"	"02404"	"2020-08-30 13:36:48"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000310795"	"00309650"	"1"	"02404"	"02404"	"2020-08-30 13:48:31"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000310796"	"00309651"	"1"	"02404"	"02404"	"2020-08-30 14:00:47"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000310797"	"00309652"	"1"	"02404"	"02404"	"2020-08-30 14:09:53"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000310798"	"00309653"	"1"	"00006"	"00006"	"2020-08-31 09:11:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310799"	"00309654"	"1"	"00006"	"00006"	"2020-08-31 09:14:05"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000310800"	"00309655"	"1"	"00006"	"00006"	"2020-08-31 09:18:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310801"	"00309656"	"1"	"00006"	"00006"	"2020-08-31 09:21:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000310802"	"00309657"	"1"	"00006"	"00006"	"2020-08-31 09:38:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310803"	"00309658"	"1"	"00006"	"00006"	"2020-08-31 09:42:09"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000310804"	"00309659"	"1"	"00006"	"00006"	"2020-08-31 09:44:21"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310805"	"00309660"	"1"	"00006"	"00006"	"2020-08-31 10:17:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000310806"	"00309661"	"1"	"00006"	"00006"	"2020-08-31 10:17:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000310807"	"00309662"	"1"	"00006"	"00006"	"2020-08-31 10:17:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000315188"	"00314015"	"1"	"02404"	"02404"	"2020-10-11 13:13:42"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000315189"	"00314016"	"1"	"02404"	"02404"	"2020-10-11 13:31:19"	""	""	"SEQ-NG-IT"	"DNA"	""	"Exome sequencing"
"0000325627"	"00324436"	"1"	"02404"	"02404"	"2020-12-12 13:11:39"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000325628"	"00324437"	"1"	"02404"	"02404"	"2020-12-12 14:28:17"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000325629"	"00324438"	"1"	"02404"	"02404"	"2020-12-12 14:42:06"	""	""	"SEQ-NG-I"	"DNA"	""	"Hearing loss gene panel"
"0000325645"	"00324454"	"1"	"02404"	"02404"	"2020-12-13 14:01:24"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000325646"	"00324454"	"1"	"02404"	"02404"	"2020-12-13 14:05:33"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000325647"	"00324455"	"1"	"02404"	"02404"	"2020-12-13 14:17:54"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000325648"	"00324456"	"1"	"00006"	"00006"	"2020-12-14 09:04:37"	"00006"	"2020-12-14 09:08:20"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"trio WES"
"0000325654"	"00324462"	"1"	"00006"	"00006"	"2020-12-14 10:33:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"wes"
"0000337241"	"00336011"	"1"	"03243"	"03243"	"2021-03-10 17:54:06"	"00006"	"2021-03-23 13:36:01"	"SEQ-NG-I"	"DNA"	""	""
"0000337242"	"00336012"	"1"	"03243"	"03243"	"2021-03-10 17:57:00"	"00006"	"2021-03-23 13:36:01"	"SEQ-NG-I"	"DNA"	""	""
"0000337244"	"00336014"	"1"	"03243"	"03243"	"2021-03-10 18:03:17"	"00006"	"2021-03-23 13:36:01"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000337245"	"00336015"	"1"	"03243"	"03243"	"2021-03-10 18:05:20"	"00006"	"2021-03-23 13:36:01"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000337247"	"00336017"	"1"	"03243"	"03243"	"2021-03-10 18:10:04"	"00006"	"2021-03-23 13:36:01"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000337248"	"00336018"	"1"	"03243"	"03243"	"2021-03-10 18:11:31"	"00006"	"2021-03-23 13:36:01"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000337252"	"00336022"	"1"	"03243"	"03243"	"2021-03-10 18:17:47"	"00006"	"2021-03-23 13:36:01"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000337253"	"00336023"	"1"	"03243"	"03243"	"2021-03-10 18:19:23"	"00006"	"2021-03-23 13:36:01"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000337262"	"00336032"	"1"	"03243"	"03243"	"2021-03-11 09:06:30"	"00006"	"2021-03-23 13:36:01"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000375544"	"00374350"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375964"	"00374770"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000386355"	"00385126"	"1"	"00006"	"00006"	"2021-10-08 09:27:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000386356"	"00385127"	"1"	"00006"	"00006"	"2021-10-08 11:27:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000386357"	"00385128"	"1"	"00006"	"00006"	"2021-10-08 11:27:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000386358"	"00385129"	"1"	"00006"	"00006"	"2021-10-08 11:27:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000386359"	"00385130"	"1"	"00006"	"00006"	"2021-10-08 11:27:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000386360"	"00385131"	"1"	"00006"	"00006"	"2021-10-08 11:27:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000386361"	"00385132"	"1"	"00006"	"00006"	"2021-10-08 11:27:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000430081"	"00428668"	"1"	"04147"	"04147"	"2023-01-05 22:42:19"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Blood"	"WES"
"0000450001"	"00448425"	"1"	"00006"	"00006"	"2024-03-11 18:21:02"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 40
"{{screeningid}}"	"{{geneid}}"
"0000265043"	"KARS"
"0000286260"	"KARS"
"0000286261"	"KARS"
"0000286262"	"KARS"
"0000286263"	"KARS"
"0000286264"	"KARS"
"0000286265"	"KARS"
"0000286268"	"KARS"
"0000286270"	"KARS"
"0000310798"	"KARS"
"0000310799"	"KARS"
"0000310800"	"KARS"
"0000310801"	"KARS"
"0000310802"	"KARS"
"0000310803"	"KARS"
"0000310804"	"KARS"
"0000310805"	"KARS"
"0000310806"	"KARS"
"0000310807"	"KARS"
"0000325648"	"KARS"
"0000325654"	"KARS"
"0000337241"	"KARS"
"0000337242"	"KARS"
"0000337244"	"KARS"
"0000337245"	"KARS"
"0000337247"	"KARS"
"0000337248"	"KARS"
"0000337252"	"KARS"
"0000337253"	"KARS"
"0000337262"	"KARS"
"0000375544"	"KARS"
"0000375964"	"KARS"
"0000386355"	"KARS"
"0000386356"	"KARS"
"0000386357"	"KARS"
"0000386358"	"KARS"
"0000386359"	"KARS"
"0000386360"	"KARS"
"0000386361"	"KARS"
"0000450001"	"KARS"


## 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 = 149
"{{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}}"
"0000247359"	"0"	"10"	"16"	"75674270"	"75674270"	"del"	"0"	"02330"	"KARS_000011"	"g.75674270del"	""	""	""	"KARS(NM_001130089.1):c.307-6del (p.(=)), KARS(NM_001130089.1):c.307-6delT, KARS1(NM_001130089.1):c.307-6delT, KARS1(NM_001130089.2):c.307-6delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75640372del"	""	"benign"	""
"0000250683"	"0"	"10"	"16"	"75674270"	"75674270"	"del"	"0"	"02326"	"KARS_000011"	"g.75674270del"	""	""	""	"KARS(NM_001130089.1):c.307-6del (p.(=)), KARS(NM_001130089.1):c.307-6delT, KARS1(NM_001130089.1):c.307-6delT, KARS1(NM_001130089.2):c.307-6delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75640372del"	""	"benign"	""
"0000253035"	"0"	"10"	"16"	"75674270"	"75674270"	"del"	"0"	"01943"	"KARS_000011"	"g.75674270del"	""	""	""	"KARS(NM_001130089.1):c.307-6del (p.(=)), KARS(NM_001130089.1):c.307-6delT, KARS1(NM_001130089.1):c.307-6delT, KARS1(NM_001130089.2):c.307-6delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75640372del"	""	"benign"	""
"0000278238"	"0"	"10"	"16"	"75665494"	"75665494"	"subst"	"0.0266911"	"02330"	"KARS_000006"	"g.75665494G>A"	""	""	""	"KARS1(NM_001130089.2):c.1163-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75631596G>A"	""	"benign"	""
"0000278239"	"0"	"50"	"16"	"75665388"	"75665388"	"subst"	"0.00136494"	"02330"	"KARS_000005"	"g.75665388C>T"	""	""	""	"KARS(NM_001130089.1):c.1262G>A (p.R421Q), KARS1(NM_001130089.1):c.1262G>A (p.R421Q), KARS1(NM_005548.3):c.1178G>A (p.R393Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75631490C>T"	""	"VUS"	""
"0000278240"	"0"	"10"	"16"	"75675609"	"75675609"	"subst"	"0.0719002"	"02330"	"KARS_000014"	"g.75675609T>C"	""	""	""	"KARS1(NM_001130089.2):c.159A>G (p.R53=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75641711T>C"	""	"benign"	""
"0000278241"	"0"	"10"	"16"	"75661803"	"75661803"	"subst"	"0.0577548"	"02330"	"KARS_000002"	"g.75661803G>C"	""	""	""	"KARS1(NM_001130089.2):c.1868C>G (p.T623S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75627905G>C"	""	"benign"	""
"0000278242"	"0"	"10"	"16"	"75674269"	"75674270"	"del"	"0"	"02330"	"KARS_000012"	"g.75674269_75674270del"	""	""	""	"KARS1(NM_001130089.1):c.307-7_307-6delTT, KARS1(NM_001130089.2):c.307-7_307-6delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75640371_75640372del"	""	"benign"	""
"0000278244"	"0"	"50"	"16"	"75674100"	"75674100"	"subst"	"2.03032E-5"	"02330"	"KARS_000009"	"g.75674100T>C"	""	""	""	"KARS1(NM_001130089.2):c.454A>G (p.I152V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75640202T>C"	""	"VUS"	""
"0000278245"	"0"	"10"	"16"	"75669867"	"75669867"	"subst"	"0.00134846"	"02330"	"KARS_000008"	"g.75669867T>C"	""	""	""	"KARS(NM_001130089.1):c.696A>G (p.T232=), KARS1(NM_001130089.1):c.696A>G (p.T232=), KARS1(NM_001130089.2):c.696A>G (p.T232=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75635969T>C"	""	"benign"	""
"0000283476"	"0"	"70"	"16"	"75664403"	"75664403"	"subst"	"0"	"02329"	"KARS_000004"	"g.75664403C>A"	""	""	""	"KARS1(NM_001130089.2):c.1426G>T (p.V476F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75630505C>A"	""	"likely pathogenic"	""
"0000283477"	"0"	"70"	"16"	"75674231"	"75674231"	"subst"	"4.07262E-6"	"02329"	"KARS_000010"	"g.75674231C>T"	""	""	""	"KARS1(NM_001130089.2):c.323G>A (p.R108H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75640333C>T"	""	"likely pathogenic"	""
"0000285461"	"0"	"10"	"16"	"75674269"	"75674270"	"del"	"0"	"02326"	"KARS_000012"	"g.75674269_75674270del"	""	""	""	"KARS1(NM_001130089.1):c.307-7_307-6delTT, KARS1(NM_001130089.2):c.307-7_307-6delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75640371_75640372del"	""	"benign"	""
"0000289999"	"0"	"50"	"16"	"75665728"	"75665728"	"subst"	"8.12229E-6"	"01943"	"KARS_000007"	"g.75665728C>T"	""	""	""	"KARS(NM_001130089.1):c.1025G>A (p.R342Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75631830C>T"	""	"VUS"	""
"0000290000"	"0"	"50"	"16"	"75665388"	"75665388"	"subst"	"0.00136494"	"01943"	"KARS_000005"	"g.75665388C>T"	""	""	""	"KARS(NM_001130089.1):c.1262G>A (p.R421Q), KARS1(NM_001130089.1):c.1262G>A (p.R421Q), KARS1(NM_005548.3):c.1178G>A (p.R393Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75631490C>T"	""	"VUS"	""
"0000290001"	"0"	"50"	"16"	"75662528"	"75662528"	"subst"	"4.06075E-6"	"01943"	"KARS_000003"	"g.75662528G>A"	""	""	""	"KARS(NM_001130089.1):c.1718C>T (p.A573V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75628630G>A"	""	"VUS"	""
"0000290002"	"0"	"50"	"16"	"75678305"	"75678305"	"subst"	"2.47306E-5"	"01943"	"KARS_000015"	"g.75678305T>A"	""	""	""	"KARS(NM_001130089.1):c.22A>T (p.R8W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75644407T>A"	""	"VUS"	""
"0000338706"	"0"	"10"	"16"	"75681699"	"75681699"	"subst"	"0"	"02327"	"TERF2IP_000002"	"g.75681699G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75647801G>T"	""	"benign"	""
"0000338707"	"0"	"10"	"16"	"75681743"	"75681743"	"subst"	"0.254525"	"02327"	"TERF2IP_000003"	"g.75681743C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75647845C>G"	""	"benign"	""
"0000338708"	"0"	"10"	"16"	"75681756"	"75681756"	"subst"	"0.0396078"	"02327"	"TERF2IP_000004"	"g.75681756C>A"	""	""	""	"TERF2IP(NM_018975.3):c.-25C>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75647858C>A"	""	"benign"	""
"0000348017"	"0"	"50"	"16"	"75669586"	"75669586"	"subst"	"4.06332E-6"	"02327"	"KARS_000017"	"g.75669586A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75635688A>C"	""	"VUS"	""
"0000350498"	"0"	"50"	"16"	"75665725"	"75665725"	"subst"	"0"	"02327"	"KARS_000016"	"g.75665725A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75631827A>G"	""	"VUS"	""
"0000559132"	"0"	"30"	"16"	"75662488"	"75662488"	"subst"	"0.00136864"	"01943"	"KARS_000018"	"g.75662488G>A"	""	""	""	"KARS(NM_001130089.1):c.1758C>T (p.L586=), KARS1(NM_001130089.1):c.1758C>T (p.L586=), KARS1(NM_001130089.2):c.1758C>T (p.L586=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75628590G>A"	""	"likely benign"	""
"0000559133"	"0"	"30"	"16"	"75662521"	"75662521"	"subst"	"0"	"01804"	"KARS_000019"	"g.75662521C>T"	""	""	""	"KARS(NM_001130089.1):c.1725G>A (p.(Trp575Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75628623C>T"	""	"likely benign"	""
"0000559134"	"0"	"30"	"16"	"75665146"	"75665146"	"subst"	"0.00151488"	"02330"	"KARS_000020"	"g.75665146G>A"	""	""	""	"KARS(NM_001130089.1):c.1342C>T (p.R448C), KARS1(NM_001130089.1):c.1342C>T (p.R448C), KARS1(NM_001130089.2):c.1342C>T (p.R448C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75631248G>A"	""	"likely benign"	""
"0000559135"	"0"	"50"	"16"	"75665146"	"75665146"	"subst"	"0.00151488"	"01943"	"KARS_000020"	"g.75665146G>A"	""	""	""	"KARS(NM_001130089.1):c.1342C>T (p.R448C), KARS1(NM_001130089.1):c.1342C>T (p.R448C), KARS1(NM_001130089.2):c.1342C>T (p.R448C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75631248G>A"	""	"VUS"	""
"0000559136"	"0"	"30"	"16"	"75665146"	"75665146"	"subst"	"0.00151488"	"02326"	"KARS_000020"	"g.75665146G>A"	""	""	""	"KARS(NM_001130089.1):c.1342C>T (p.R448C), KARS1(NM_001130089.1):c.1342C>T (p.R448C), KARS1(NM_001130089.2):c.1342C>T (p.R448C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75631248G>A"	""	"likely benign"	""
"0000559138"	"0"	"50"	"16"	"75668164"	"75668164"	"subst"	"0.000361459"	"02330"	"KARS_000021"	"g.75668164G>C"	""	""	""	"KARS1(NM_001130089.2):c.906C>G (p.I302M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75634266G>C"	""	"VUS"	""
"0000559139"	"0"	"50"	"16"	"75669656"	"75669656"	"subst"	"0.000792142"	"02330"	"KARS_000022"	"g.75669656A>C"	""	""	""	"KARS(NM_001130089.1):c.801T>G (p.F267L), KARS(NM_005548.3):c.717T>G (p.(Phe239Leu)), KARS1(NM_001130089.2):c.801T>G (p.F267L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75635758A>C"	""	"VUS"	""
"0000559140"	"0"	"50"	"16"	"75669656"	"75669656"	"subst"	"0.000792142"	"01943"	"KARS_000022"	"g.75669656A>C"	""	""	""	"KARS(NM_001130089.1):c.801T>G (p.F267L), KARS(NM_005548.3):c.717T>G (p.(Phe239Leu)), KARS1(NM_001130089.2):c.801T>G (p.F267L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75635758A>C"	""	"VUS"	""
"0000559141"	"0"	"10"	"16"	"75669867"	"75669867"	"subst"	"0.00134846"	"02326"	"KARS_000008"	"g.75669867T>C"	""	""	""	"KARS(NM_001130089.1):c.696A>G (p.T232=), KARS1(NM_001130089.1):c.696A>G (p.T232=), KARS1(NM_001130089.2):c.696A>G (p.T232=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75635969T>C"	""	"benign"	""
"0000559142"	"0"	"10"	"16"	"75669878"	"75669878"	"subst"	"0.00109657"	"01943"	"KARS_000023"	"g.75669878A>G"	""	""	""	"KARS(NM_001130089.1):c.685T>C (p.Y229H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75635980A>G"	""	"benign"	""
"0000559143"	"0"	"50"	"16"	"75669907"	"75669907"	"subst"	"8.12334E-6"	"01804"	"KARS_000024"	"g.75669907G>A"	""	""	""	"KARS(NM_001130089.1):c.656C>T (p.(Thr219Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75636009G>A"	""	"VUS"	""
"0000559144"	"0"	"70"	"16"	"75669950"	"75669950"	"subst"	"0"	"02329"	"KARS_000025"	"g.75669950G>A"	""	""	""	"KARS1(NM_001130089.2):c.613C>T (p.R205C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75636052G>A"	""	"likely pathogenic"	""
"0000559145"	"0"	"30"	"16"	"75674268"	"75674270"	"del"	"0"	"02330"	"KARS_000026"	"g.75674268_75674270del"	""	""	""	"KARS1(NM_001130089.2):c.307-8_307-6delTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75640370_75640372del"	""	"likely benign"	""
"0000559147"	"0"	"10"	"16"	"75674269"	"75674270"	"dup"	"0"	"01943"	"KARS_000027"	"g.75674269_75674270dup"	""	""	""	"KARS(NM_001130089.1):c.307-7_307-6dupTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75640371_75640372dup"	""	"benign"	""
"0000559148"	"0"	"30"	"16"	"75674270"	"75674270"	"del"	"0"	"01804"	"KARS_000011"	"g.75674270del"	""	""	""	"KARS(NM_001130089.1):c.307-6del (p.(=)), KARS(NM_001130089.1):c.307-6delT, KARS1(NM_001130089.1):c.307-6delT, KARS1(NM_001130089.2):c.307-6delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75640372del"	""	"likely benign"	""
"0000559149"	"0"	"10"	"16"	"75674270"	"75674270"	"dup"	"0"	"02330"	"KARS_000028"	"g.75674270dup"	""	""	""	"KARS(NM_001130089.1):c.307-6dupT, KARS(NM_001130089.1):c.307-6dupT (p.(=)), KARS1(NM_001130089.2):c.307-6dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75640372dup"	""	"benign"	""
"0000559150"	"0"	"30"	"16"	"75674270"	"75674270"	"dup"	"0"	"01804"	"KARS_000028"	"g.75674270dup"	""	""	""	"KARS(NM_001130089.1):c.307-6dupT, KARS(NM_001130089.1):c.307-6dupT (p.(=)), KARS1(NM_001130089.2):c.307-6dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75640372dup"	""	"likely benign"	""
"0000559151"	"0"	"30"	"16"	"75675452"	"75675452"	"subst"	"2.45741E-5"	"02326"	"KARS_000029"	"g.75675452G>A"	""	""	""	"KARS(NM_001130089.1):c.306+10C>T, KARS1(NM_001130089.1):c.306+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75641554G>A"	""	"likely benign"	""
"0000595626"	"0"	"70"	"16"	"75665702"	"75665702"	"subst"	"4.06072E-6"	"01364"	"KARS_000030"	"g.75665702G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000616137"	"0"	"30"	"16"	"75665388"	"75665388"	"subst"	"0.00136494"	"02326"	"KARS_000005"	"g.75665388C>T"	""	""	""	"KARS(NM_001130089.1):c.1262G>A (p.R421Q), KARS1(NM_001130089.1):c.1262G>A (p.R421Q), KARS1(NM_005548.3):c.1178G>A (p.R393Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75631490C>T"	""	"likely benign"	""
"0000616138"	"0"	"70"	"16"	"75670447"	"75670447"	"subst"	"0"	"02326"	"KARS_000033"	"g.75670447T>G"	""	""	""	"KARS1(NM_001130089.1):c.473-2A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75636549T>G"	""	"likely pathogenic"	""
"0000616139"	"0"	"50"	"16"	"75674196"	"75674196"	"subst"	"0.000426389"	"01943"	"KARS_000034"	"g.75674196C>G"	""	""	""	"KARS(NM_001130089.1):c.358G>C (p.E120Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75640298C>G"	""	"VUS"	""
"0000623531"	"0"	"30"	"16"	"75669879"	"75669879"	"subst"	"0.000150286"	"02325"	"KARS_000031"	"g.75669879C>T"	""	""	""	"KARS1(NM_001130089.2):c.684G>A (p.P228=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75635981C>T"	""	"likely benign"	""
"0000623532"	"0"	"30"	"16"	"75670344"	"75670344"	"subst"	"0.000588923"	"02330"	"KARS_000032"	"g.75670344C>T"	""	""	""	"KARS1(NM_001130089.2):c.566+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75636446C>T"	""	"likely benign"	""
"0000623533"	"0"	"50"	"16"	"75678205"	"75678205"	"subst"	"0"	"01943"	"KARS_000035"	"g.75678205T>G"	""	""	""	"KARS(NM_001130089.1):c.122A>C (p.D41A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75644307T>G"	""	"VUS"	""
"0000642002"	"2"	"70"	"16"	"75662486"	"75662486"	"subst"	"5.68569E-5"	"00004"	"KARS_000036"	"g.75662486G>A"	""	"{PMID:Lieber 2013:23596069}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75628588G>A"	""	"VUS"	"ACMG"
"0000642003"	"1"	"99"	"16"	"75662589"	"75662589"	"subst"	"4.06078E-6"	"00004"	"KARS_000037"	"g.75662589C>T"	""	"{DB:DVD}, {PMID:McMillan 2015:25330800}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.75628691C>T"	""	"pathogenic"	""
"0000642004"	"1"	"77"	"16"	"75663339"	"75663339"	"subst"	"8.12222E-6"	"00004"	"KARS_000038"	"g.75663339G>A"	""	"{DB:DVD}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.75629441G>A"	""	"likely pathogenic"	""
"0000642005"	"1"	"99"	"16"	"75665092"	"75665092"	"subst"	"4.06785E-6"	"00004"	"KARS_000039"	"g.75665092G>A"	""	"{DB:DVD}, {PMID:McMillan 2015:25330800}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.75631194G>A"	""	"pathogenic"	""
"0000642006"	"1"	"99"	"16"	"75665624"	"75665624"	"subst"	"0"	"00004"	"KARS_000040"	"g.75665624C>T"	""	"{DB:DVD}, {PMID:Basit 2011:21181198}, {PMID:Szafranski 2015:24824130}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.75631726C>T"	""	"pathogenic"	""
"0000642007"	"1"	"30"	"16"	"75668164"	"75668164"	"subst"	"0.000361459"	"00004"	"KARS_000021"	"g.75668164G>C"	""	"{PMID:McLaughlin 2010:20920668}"	""	"906C>G (Ile302Met)"	"in vitro analysis shows variant maintains normal aminoacylation catalytic activity"	"Germline"	""	""	"0"	""	""	"g.75634266G>C"	""	"likely benign"	""
"0000642008"	"1"	"70"	"16"	"75669880"	"75669880"	"subst"	"0.000142162"	"00004"	"KARS_000041"	"g.75669880G>A"	""	"{PMID:Lieber 2013:23596069}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75635982G>A"	""	"VUS"	"ACMG"
"0000642010"	"1"	"99"	"16"	"75670401"	"75670401"	"subst"	"2.84315E-5"	"00004"	"KARS_000043"	"g.75670401A>G"	""	"{DB:DVD}, {PMID:Basit 2011:21181198}, {PMID:Szafranski 2015:24824130}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.75636503A>G"	""	"pathogenic"	""
"0000642011"	"2"	"90"	"16"	"75670393"	"75670394"	"dup"	"0"	"00006"	"KARS_000042"	"g.75670393_75670394dup"	""	"{PMID:McLaughlin 2010:20920668}"	""	"524_525insTT"	""	"Germline"	""	""	"0"	""	""	"g.75636495_75636496dup"	""	"pathogenic (recessive)"	""
"0000642012"	"1"	"90"	"16"	"75674156"	"75674156"	"subst"	"4.06058E-6"	"00004"	"KARS_000045"	"g.75674156A>T"	""	"{PMID:McLaughlin 2010:20920668}"	""	"398T>A (Leu133His)"	""	"Germline"	""	""	"0"	""	""	"g.75640258A>T"	""	"pathogenic (recessive)"	""
"0000657931"	"0"	"50"	"16"	"75663379"	"75663379"	"subst"	"0.000536067"	"02330"	"KARS_000046"	"g.75663379T>C"	""	""	""	"KARS(NM_005548.3):c.1485A>G (p.(Ile495Met)), KARS1(NM_001130089.2):c.1569A>G (p.I523M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75629481T>C"	""	"VUS"	""
"0000680662"	"0"	"30"	"16"	"75662488"	"75662488"	"subst"	"0.00136864"	"02326"	"KARS_000018"	"g.75662488G>A"	""	""	""	"KARS(NM_001130089.1):c.1758C>T (p.L586=), KARS1(NM_001130089.1):c.1758C>T (p.L586=), KARS1(NM_001130089.2):c.1758C>T (p.L586=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000680663"	"0"	"30"	"16"	"75675452"	"75675452"	"subst"	"2.45741E-5"	"01943"	"KARS_000029"	"g.75675452G>A"	""	""	""	"KARS(NM_001130089.1):c.306+10C>T, KARS1(NM_001130089.1):c.306+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000685774"	"3"	"70"	"16"	"75674175"	"75674175"	"subst"	"0"	"02404"	"KARS_000053"	"g.75674175A>G"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000685798"	"3"	"90"	"16"	"75669866"	"75669866"	"subst"	"4.06157E-6"	"02404"	"KARS_000052"	"g.75669866G>C"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000685800"	"3"	"70"	"16"	"75668181"	"75668181"	"subst"	"0"	"02404"	"KARS_000051"	"g.75668181G>C"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000685801"	"3"	"70"	"16"	"75668081"	"75668081"	"subst"	"0"	"02404"	"KARS_000050"	"g.75668081A>G"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000685802"	"3"	"50"	"16"	"75665680"	"75665680"	"subst"	"4.46682E-5"	"02404"	"KARS_000049"	"g.75665680G>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000685803"	"3"	"90"	"16"	"75665629"	"75665629"	"subst"	"4.06085E-6"	"02404"	"KARS_000048"	"g.75665629T>C"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000685804"	"3"	"70"	"16"	"75662474"	"75662474"	"subst"	"4.06161E-6"	"02404"	"KARS_000047"	"g.75662474T>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000685805"	"3"	"70"	"16"	"75662474"	"75662474"	"subst"	"4.06161E-6"	"02404"	"KARS_000047"	"g.75662474T>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000685807"	"3"	"90"	"16"	"75669866"	"75669866"	"subst"	"4.06157E-6"	"00006"	"KARS_000052"	"g.75669866G>C"	""	"{PMID:Sun 2019:31192300}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685808"	"2"	"90"	"16"	"75661885"	"75661885"	"subst"	"8.14956E-6"	"00006"	"KARS_000054"	"g.75661885G>A"	""	"{PMID:Sun 2019:31192300}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685809"	"1"	"90"	"16"	"75665368"	"75665369"	"ins"	"0"	"00006"	"KARS_000055"	"g.75665368_75665369insTCT"	""	"{PMID:Sun 2019:31192300}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685810"	"1"	"90"	"16"	"75668189"	"75668189"	"subst"	"6.09355E-5"	"00006"	"KARS_000056"	"g.75668189A>G"	""	"{PMID:Sun 2019:31192300}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685811"	"2"	"90"	"16"	"75662486"	"75662486"	"subst"	"5.68569E-5"	"00006"	"KARS_000036"	"g.75662486G>A"	""	"{PMID:Sun 2019:31192300}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685812"	"1"	"90"	"16"	"75663434"	"75663434"	"subst"	"0"	"00006"	"KARS_000057"	"g.75663434C>T"	""	"{PMID:Sun 2019:31192300}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685813"	"2"	"90"	"16"	"75663351"	"75663351"	"subst"	"0"	"00006"	"KARS_000058"	"g.75663351G>A"	""	"{PMID:Sun 2019:31192300}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685814"	"3"	"90"	"16"	"75665624"	"75665624"	"subst"	"0"	"00006"	"KARS_000040"	"g.75665624C>T"	""	"{PMID:Santos-Cortez 2013:23768514}, {DB:DVD}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685815"	"3"	"90"	"16"	"75670401"	"75670401"	"subst"	"2.84315E-5"	"00006"	"KARS_000043"	"g.75670401A>G"	""	"{PMID:Santos-Cortez 2013:23768514}, {DB:DVD}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685816"	"3"	"90"	"16"	"75670401"	"75670401"	"subst"	"2.84315E-5"	"00006"	"KARS_000043"	"g.75670401A>G"	""	"{PMID:Santos-Cortez 2013:23768514}, {DB:DVD}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685817"	"3"	"90"	"16"	"75663434"	"75663434"	"subst"	"0"	"00006"	"KARS_000057"	"g.75663434C>T"	""	"{PMID:Ardissone 2018:29615062}"	""	""	""	"Germline"	""	"rs778748895"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685818"	"1"	"90"	"16"	"75665629"	"75665629"	"subst"	"4.06085E-6"	"00006"	"KARS_000048"	"g.75665629T>C"	""	"{PMID:Ardissone 2018:29615062}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685819"	"1"	"90"	"16"	"75669642"	"75669642"	"subst"	"1.21867E-5"	"00006"	"KARS_000059"	"g.75669642A>C"	""	"{PMID:Ardissone 2018:29615062}"	""	""	""	"Germline"	""	"rs138062606"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685820"	"2"	"90"	"16"	"75674173"	"75674173"	"subst"	"0"	"00006"	"KARS_000061"	"g.75674173G>C"	""	"{PMID:Ardissone 2018:29615062}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000685821"	"2"	"90"	"16"	"75665710"	"75665710"	"subst"	"8.12163E-6"	"00006"	"KARS_000060"	"g.75665710C>T"	""	"{PMID:Ardissone 2018:29615062}"	""	""	""	"Germline"	""	"rs527981017"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000692138"	"0"	"30"	"16"	"75664377"	"75664377"	"subst"	"5.6974E-5"	"01943"	"KARS_000062"	"g.75664377G>A"	""	""	""	"KARS(NM_001130089.1):c.1452C>T (p.C484=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692139"	"0"	"30"	"16"	"75665146"	"75665146"	"subst"	"0.00151488"	"02325"	"KARS_000020"	"g.75665146G>A"	""	""	""	"KARS(NM_001130089.1):c.1342C>T (p.R448C), KARS1(NM_001130089.1):c.1342C>T (p.R448C), KARS1(NM_001130089.2):c.1342C>T (p.R448C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692140"	"0"	"50"	"16"	"75665690"	"75665690"	"subst"	"5.68491E-5"	"01943"	"KARS_000063"	"g.75665690T>C"	""	""	""	"KARS(NM_001130089.1):c.1063A>G (p.I355V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000692141"	"0"	"30"	"16"	"75669867"	"75669867"	"subst"	"0.00134846"	"01943"	"KARS_000008"	"g.75669867T>C"	""	""	""	"KARS(NM_001130089.1):c.696A>G (p.T232=), KARS1(NM_001130089.1):c.696A>G (p.T232=), KARS1(NM_001130089.2):c.696A>G (p.T232=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000697275"	"11"	"70"	"16"	"75669880"	"75669880"	"subst"	"0.000142162"	"02404"	"KARS_000041"	"g.75669880G>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	"{CV-RCV:000681462.1}, {CV-RCV:000986183.1}"	"pathogenic (recessive)"	"ACMG"
"0000697276"	"21"	"70"	"16"	"75669683"	"75669683"	"subst"	"0"	"02404"	"KARS_000065"	"g.75669683T>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	"{CV-RCV:000660587.1}"	"likely pathogenic (recessive)"	"ACMG"
"0000697277"	"21"	"70"	"16"	"75669880"	"75669880"	"subst"	"0.000142162"	"02404"	"KARS_000041"	"g.75669880G>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	"{CV-RCV:000681462.1}, {CV-RCV:000986183.1}"	"pathogenic (recessive)"	"ACMG"
"0000697278"	"11"	"50"	"16"	"75662504"	"75662504"	"subst"	"0"	"02404"	"KARS_000064"	"g.75662504C>T"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000708753"	"3"	"70"	"16"	"75674175"	"75674175"	"subst"	"0"	"02404"	"KARS_000053"	"g.75674175A>G"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000708754"	"3"	"70"	"16"	"75663371"	"75663371"	"subst"	"0"	"02404"	"KARS_000066"	"g.75663371G>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	"{CV-RCV:000986181.1}"	"likely pathogenic (recessive)"	"ACMG"
"0000708755"	"3"	"90"	"16"	"75662474"	"75662474"	"subst"	"4.06161E-6"	"02404"	"KARS_000047"	"g.75662474T>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Unknown"	"?"	""	""	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000708771"	"21"	"70"	"16"	"75668082"	"75668082"	"subst"	"0"	"02404"	"KARS_000068"	"g.75668082G>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	"{CV-RCV:000489757.1}"	"likely pathogenic (recessive)"	"ACMG"
"0000708772"	"11"	"70"	"16"	"75665702"	"75665702"	"subst"	"4.06072E-6"	"02404"	"KARS_000067"	"g.75665702G>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	"{CV-RCV:000489266.1}"	"likely pathogenic (recessive)"	"ACMG"
"0000708773"	"10"	"70"	"16"	"75669880"	"75669880"	"subst"	"0.000142162"	"02404"	"KARS_000041"	"g.75669880G>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Unknown"	"yes"	""	""	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000708774"	"21"	"70"	"16"	"75669683"	"75669683"	"subst"	"0"	"02404"	"KARS_000065"	"g.75669683T>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000708775"	"11"	"90"	"16"	"75669880"	"75669880"	"subst"	"0.000142162"	"00006"	"KARS_000041"	"g.75669880G>A"	""	"{PMID:Scheidecker 2019:31116475}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000708776"	"21"	"90"	"16"	"75669586"	"75669586"	"subst"	"4.06332E-6"	"00006"	"KARS_000017"	"g.75669586A>C"	""	"{PMID:Scheidecker 2019:31116475}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000708783"	"1"	"90"	"16"	"75662502"	"75662514"	"del"	"4.06095E-6"	"00006"	"KARS_000069"	"g.75662502_75662514del"	""	"{PMID:Fuchs 2019:29875423}"	""	"1732_1744delGGCATTGATCGAG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000708784"	"2"	"90"	"16"	"75669880"	"75669880"	"subst"	"0.000142162"	"00006"	"KARS_000041"	"g.75669880G>A"	""	"{PMID:Fuchs 2019:29875423}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000725968"	"0"	"30"	"16"	"75675641"	"75675641"	"subst"	"0.000175156"	"02330"	"KARS_000070"	"g.75675641G>A"	""	""	""	"KARS1(NM_001130089.2):c.147-20C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000725969"	"0"	"30"	"16"	"75681523"	"75681523"	"subst"	"0"	"02330"	"KARS_000071"	"g.75681523C>T"	""	""	""	"KARS1(NM_005548.3):c.15G>A (p.Q5=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000736871"	"1"	"90"	"16"	"75675599"	"75675599"	"subst"	"0"	"03243"	"KARS_000073"	"g.75675599C>G"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS1, PS3, PM2, PP1"	"Germline"	""	""	"0"	""	""	"g.75641701C>G"	""	"pathogenic (recessive)"	"ACMG"
"0000736872"	"1"	"90"	"16"	"75675599"	"75675599"	"subst"	"0"	"03243"	"KARS_000073"	"g.75675599C>G"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS1, PS3, PM2, PP1"	"Germline"	""	""	"0"	""	""	"g.75641701C>G"	""	"pathogenic (recessive)"	"ACMG"
"0000736874"	"1"	"90"	"16"	"75675545"	"75675545"	"del"	"0"	"03243"	"KARS_000074"	"g.75675545del"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	"223delC"	"ACMG PVS1, PM2, PM3"	"Germline"	""	""	"0"	""	""	"g.75641647del"	""	"pathogenic (recessive)"	"ACMG"
"0000736875"	"1"	"90"	"16"	"75674232"	"75674232"	"subst"	"0"	"03243"	"KARS_000075"	"g.75674232G>A"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS3, PM2, PM3, PM5"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000736877"	"3"	"90"	"16"	"75669950"	"75669950"	"subst"	"0"	"03243"	"KARS_000025"	"g.75669950G>A"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS3, PM2, PP1, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000736878"	"3"	"90"	"16"	"75669950"	"75669950"	"subst"	"0"	"03243"	"KARS_000025"	"g.75669950G>A"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS3, PM2, PP1, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000736882"	"3"	"90"	"16"	"75665716"	"75665716"	"subst"	"0"	"03243"	"KARS_000076"	"g.75665716A>G"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS1, PS3, PM2, PM3, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000736883"	"1"	"90"	"16"	"75665711"	"75665711"	"subst"	"0"	"03243"	"KARS_000077"	"g.75665711G>A"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS3, PM2, PM3, PM5, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000736893"	"1"	"90"	"16"	"75664333"	"75664333"	"subst"	"0"	"03243"	"KARS_000084"	"g.75664333G>A"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS3, PM2, PM3, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000760815"	"2"	"70"	"16"	"75681533"	"75681533"	"subst"	"8.17942E-6"	"03243"	"KARS_000072"	"g.75681533G>A"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PM3, PP3, PP4, BS3"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000760816"	"2"	"90"	"16"	"75665446"	"75665446"	"subst"	"0"	"03243"	"KARS_000078"	"g.75665446G>A"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS3, PM2, PM3, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000760817"	"2"	"90"	"16"	"75663350"	"75663350"	"subst"	"0"	"03243"	"KARS_000080"	"g.75663350G>C"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS3, PM2, PM3, PM5, PP1, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000760818"	"2"	"90"	"16"	"75663350"	"75663350"	"subst"	"0"	"03243"	"KARS_000080"	"g.75663350G>C"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS3, PM2, PM3, PM5, PP1, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000760819"	"2"	"90"	"16"	"75669586"	"75669586"	"subst"	"4.06332E-6"	"03243"	"KARS_000017"	"g.75669586A>C"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS1, PS3, PM2, PM3, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000760820"	"2"	"90"	"16"	"75662492"	"75662492"	"subst"	"0"	"03243"	"KARS_000081"	"g.75662492A>C"	""	"{PMID:Cappuccio 2021:33942428}, {DOI:Cappuccio 2021:10.1002/humu.24210}"	""	""	"ACMG PS3, PM2, PM3, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000786895"	"0"	"70"	"16"	"75675545"	"75675545"	"subst"	"0"	"00006"	"KARS_000086"	"g.75675545G>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.75641647G>A"	""	"likely pathogenic"	""
"0000787315"	"3"	"50"	"16"	"75669693"	"75669693"	"subst"	"0"	"00006"	"KARS_000085"	"g.75669693T>C"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75635795T>C"	""	"VUS"	""
"0000807593"	"0"	"70"	"16"	"75665317"	"75665318"	"del"	"0"	"02330"	"KARS_000087"	"g.75665317_75665318del"	""	""	""	"KARS1(NM_001130089.2):c.1332_1333delTG (p.E445Rfs*7)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000807594"	"0"	"50"	"16"	"75669694"	"75669694"	"subst"	"0"	"02330"	"KARS_000088"	"g.75669694A>T"	""	""	""	"KARS1(NM_001130089.2):c.763T>A (p.Y255N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000807595"	"0"	"70"	"16"	"75669880"	"75669880"	"subst"	"0.000142162"	"02330"	"KARS_000041"	"g.75669880G>A"	""	""	""	"KARS(NM_005548.3):c.599C>T (p.(Pro200Leu)), KARS1(NM_001130089.2):c.683C>T (p.P228L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000813837"	"1"	"70"	"16"	"75669880"	"75669880"	"subst"	"0.000142162"	"00006"	"KARS_000041"	"g.75669880G>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000813838"	"2"	"70"	"16"	"75662486"	"75662486"	"subst"	"5.68569E-5"	"00006"	"KARS_000036"	"g.75662486G>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000813839"	"3"	"70"	"16"	"75668081"	"75668081"	"subst"	"0"	"00006"	"KARS_000050"	"g.75668081A>G"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000813840"	"3"	"70"	"16"	"75662474"	"75662474"	"subst"	"4.06161E-6"	"00006"	"KARS_000047"	"g.75662474T>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000813841"	"3"	"70"	"16"	"75662474"	"75662474"	"subst"	"4.06161E-6"	"00006"	"KARS_000047"	"g.75662474T>A"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000813842"	"3"	"70"	"16"	"75674175"	"75674175"	"subst"	"0"	"00006"	"KARS_000053"	"g.75674175A>G"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000813843"	"3"	"70"	"16"	"75674175"	"75674175"	"subst"	"0"	"00006"	"KARS_000053"	"g.75674175A>G"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000813844"	"3"	"70"	"16"	"75674175"	"75674175"	"subst"	"0"	"00006"	"KARS_000053"	"g.75674175A>G"	""	"{PMID:Lin 2021:34172899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000854642"	"0"	"10"	"16"	"75662488"	"75662488"	"subst"	"0.00136864"	"02330"	"KARS_000018"	"g.75662488G>A"	""	""	""	"KARS(NM_001130089.1):c.1758C>T (p.L586=), KARS1(NM_001130089.1):c.1758C>T (p.L586=), KARS1(NM_001130089.2):c.1758C>T (p.L586=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000854643"	"0"	"50"	"16"	"75664399"	"75664399"	"subst"	"4.0704E-6"	"02330"	"KARS_000089"	"g.75664399C>G"	""	""	""	"KARS1(NM_001130089.2):c.1430G>C (p.G477A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000854644"	"0"	"50"	"16"	"75665483"	"75665483"	"subst"	"8.12691E-6"	"02330"	"KARS_000090"	"g.75665483C>T"	""	""	""	"KARS1(NM_001130089.2):c.1167G>A (p.M389I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000854645"	"0"	"50"	"16"	"75665702"	"75665702"	"subst"	"4.06072E-6"	"01943"	"KARS_000030"	"g.75665702G>A"	""	""	""	"KARS(NM_001130089.1):c.1051C>T (p.R351W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000854646"	"0"	"10"	"16"	"75674270"	"75674270"	"dup"	"0"	"01943"	"KARS_000028"	"g.75674270dup"	""	""	""	"KARS(NM_001130089.1):c.307-6dupT, KARS(NM_001130089.1):c.307-6dupT (p.(=)), KARS1(NM_001130089.2):c.307-6dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000909810"	"3"	"90"	"16"	"75662561"	"75662561"	"subst"	"0"	"04147"	"KARS_000091"	"g.75662561C>G"	""	"{PMID:Wonkam 2022:35440622}"	""	""	"Father not tested"	"Germline/De novo (untested)"	"yes"	"rs1156833108"	""	""	""	"g.75628663C>G"	""	"pathogenic (recessive)"	"ACMG"
"0000914689"	"0"	"30"	"16"	"75681520"	"75681520"	"subst"	"5.74618E-5"	"02330"	"KARS_000092"	"g.75681520C>T"	""	""	""	"KARS1(NM_005548.3):c.18G>A (p.A6=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950731"	"0"	"30"	"16"	"75674253"	"75674253"	"subst"	"0"	"02326"	"KARS_000093"	"g.75674253A>T"	""	""	""	"KARS1(NM_001130089.1):c.307-6T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000971630"	"0"	"30"	"16"	"75661803"	"75661803"	"subst"	"0.0577548"	"00006"	"KARS_000002"	"g.75661803G>C"	"31/710 chromosomes"	"{PMID:McLaughlin 2010:20920668}"	""	"Thr623Ser"	"in vitro analysis shows variant maintains normal aminoacylation catalytic activity"	"Germline"	""	"rs6834"	"0"	""	""	"g.75627905G>C"	""	"likely benign"	""
"0000982080"	"0"	"50"	"16"	"75663379"	"75663379"	"subst"	"0.000536067"	"01804"	"KARS_000046"	"g.75663379T>C"	""	""	""	"KARS(NM_005548.3):c.1485A>G (p.(Ile495Met)), KARS1(NM_001130089.2):c.1569A>G (p.I523M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982081"	"0"	"50"	"16"	"75663431"	"75663431"	"subst"	"4.06161E-6"	"01804"	"KARS_000094"	"g.75663431G>A"	""	""	""	"KARS(NM_005548.3):c.1433C>T (p.(Ser478Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982082"	"0"	"30"	"16"	"75665679"	"75665679"	"subst"	"3.6547E-5"	"02330"	"KARS_000095"	"g.75665679C>G"	""	""	""	"KARS1(NM_001130089.2):c.1074G>C (p.T358=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982083"	"0"	"30"	"16"	"75669656"	"75669656"	"subst"	"0.000792142"	"01804"	"KARS_000022"	"g.75669656A>C"	""	""	""	"KARS(NM_001130089.1):c.801T>G (p.F267L), KARS(NM_005548.3):c.717T>G (p.(Phe239Leu)), KARS1(NM_001130089.2):c.801T>G (p.F267L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982084"	"0"	"90"	"16"	"75669880"	"75669880"	"subst"	"0.000142162"	"01804"	"KARS_000041"	"g.75669880G>A"	""	""	""	"KARS(NM_005548.3):c.599C>T (p.(Pro200Leu)), KARS1(NM_001130089.2):c.683C>T (p.P228L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000982085"	"0"	"10"	"16"	"75681756"	"75681756"	"subst"	"0.0396078"	"01804"	"TERF2IP_000004"	"g.75681756C>A"	""	""	""	"TERF2IP(NM_018975.3):c.-25C>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001002590"	"0"	"50"	"16"	"75682511"	"75682511"	"subst"	"5.84095E-5"	"01804"	"KARS_000096"	"g.75682511C>T"	""	""	""	"TERF2IP(NM_018975.3):c.670+61C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041357"	"0"	"70"	"16"	"75665347"	"75665347"	"subst"	"0"	"01804"	"KARS_000097"	"g.75665347T>A"	""	""	""	"KARS(NM_005548.3):c.1219A>T (p.(Lys407*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""


## 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 KARS
## Count = 149
"{{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}}"
"0000247359"	"00010300"	"10"	"223"	"-6"	"223"	"-6"	"c.223-6del"	"r.(=)"	"p.(=)"	""
"0000250683"	"00010300"	"10"	"223"	"-6"	"223"	"-6"	"c.223-6del"	"r.(=)"	"p.(=)"	""
"0000253035"	"00010300"	"10"	"223"	"-6"	"223"	"-6"	"c.223-6del"	"r.(=)"	"p.(=)"	""
"0000278238"	"00010300"	"10"	"1079"	"-7"	"1079"	"-7"	"c.1079-7C>T"	"r.(=)"	"p.(=)"	""
"0000278239"	"00010300"	"50"	"1178"	"0"	"1178"	"0"	"c.1178G>A"	"r.(?)"	"p.(Arg393Gln)"	""
"0000278240"	"00010300"	"10"	"75"	"0"	"75"	"0"	"c.75A>G"	"r.(?)"	"p.(Arg25=)"	""
"0000278241"	"00010300"	"10"	"1784"	"0"	"1784"	"0"	"c.1784C>G"	"r.(?)"	"p.(Thr595Ser)"	""
"0000278242"	"00010300"	"10"	"223"	"-7"	"223"	"-6"	"c.223-7_223-6del"	"r.(=)"	"p.(=)"	""
"0000278244"	"00010300"	"50"	"370"	"0"	"370"	"0"	"c.370A>G"	"r.(?)"	"p.(Ile124Val)"	""
"0000278245"	"00010300"	"10"	"612"	"0"	"612"	"0"	"c.612A>G"	"r.(?)"	"p.(Thr204=)"	""
"0000283476"	"00010300"	"70"	"1342"	"0"	"1342"	"0"	"c.1342G>T"	"r.(?)"	"p.(Val448Phe)"	""
"0000283477"	"00010300"	"70"	"239"	"0"	"239"	"0"	"c.239G>A"	"r.(?)"	"p.(Arg80His)"	""
"0000285461"	"00010300"	"10"	"223"	"-7"	"223"	"-6"	"c.223-7_223-6del"	"r.(=)"	"p.(=)"	""
"0000289999"	"00010300"	"50"	"941"	"0"	"941"	"0"	"c.941G>A"	"r.(?)"	"p.(Arg314Gln)"	""
"0000290000"	"00010300"	"50"	"1178"	"0"	"1178"	"0"	"c.1178G>A"	"r.(?)"	"p.(Arg393Gln)"	""
"0000290001"	"00010300"	"50"	"1634"	"0"	"1634"	"0"	"c.1634C>T"	"r.(?)"	"p.(Ala545Val)"	""
"0000290002"	"00010300"	"50"	"63"	"-2684"	"63"	"-2684"	"c.63-2684A>T"	"r.(=)"	"p.(=)"	""
"0000338706"	"00010300"	"10"	"-162"	"0"	"-162"	"0"	"c.-162C>A"	"r.(?)"	"p.(=)"	""
"0000338707"	"00010300"	"10"	"-206"	"0"	"-206"	"0"	"c.-206G>C"	"r.(?)"	"p.(=)"	""
"0000338708"	"00010300"	"10"	"-219"	"0"	"-219"	"0"	"c.-219G>T"	"r.(?)"	"p.(=)"	""
"0000348017"	"00010300"	"50"	"787"	"0"	"787"	"0"	"c.787T>G"	"r.(?)"	"p.(Phe263Val)"	""
"0000350498"	"00010300"	"50"	"944"	"0"	"944"	"0"	"c.944T>C"	"r.(?)"	"p.(Val315Ala)"	""
"0000559132"	"00010300"	"30"	"1674"	"0"	"1674"	"0"	"c.1674C>T"	"r.(?)"	"p.(Leu558=)"	""
"0000559133"	"00010300"	"30"	"1641"	"0"	"1641"	"0"	"c.1641G>A"	"r.(?)"	"p.(Trp547Ter)"	""
"0000559134"	"00010300"	"30"	"1258"	"0"	"1258"	"0"	"c.1258C>T"	"r.(?)"	"p.(Arg420Cys)"	""
"0000559135"	"00010300"	"50"	"1258"	"0"	"1258"	"0"	"c.1258C>T"	"r.(?)"	"p.(Arg420Cys)"	""
"0000559136"	"00010300"	"30"	"1258"	"0"	"1258"	"0"	"c.1258C>T"	"r.(?)"	"p.(Arg420Cys)"	""
"0000559138"	"00010300"	"50"	"822"	"0"	"822"	"0"	"c.822C>G"	"r.(?)"	"p.(Ile274Met)"	""
"0000559139"	"00010300"	"50"	"717"	"0"	"717"	"0"	"c.717T>G"	"r.(?)"	"p.(Phe239Leu)"	""
"0000559140"	"00010300"	"50"	"717"	"0"	"717"	"0"	"c.717T>G"	"r.(?)"	"p.(Phe239Leu)"	""
"0000559141"	"00010300"	"10"	"612"	"0"	"612"	"0"	"c.612A>G"	"r.(?)"	"p.(Thr204=)"	""
"0000559142"	"00010300"	"10"	"601"	"0"	"601"	"0"	"c.601T>C"	"r.(?)"	"p.(Tyr201His)"	""
"0000559143"	"00010300"	"50"	"572"	"0"	"572"	"0"	"c.572C>T"	"r.(?)"	"p.(Thr191Ile)"	""
"0000559144"	"00010300"	"70"	"529"	"0"	"529"	"0"	"c.529C>T"	"r.(?)"	"p.(Arg177Cys)"	""
"0000559145"	"00010300"	"30"	"223"	"-8"	"223"	"-6"	"c.223-8_223-6del"	"r.(=)"	"p.(=)"	""
"0000559147"	"00010300"	"10"	"223"	"-7"	"223"	"-6"	"c.223-7_223-6dup"	"r.(=)"	"p.(=)"	""
"0000559148"	"00010300"	"30"	"223"	"-6"	"223"	"-6"	"c.223-6del"	"r.(=)"	"p.(=)"	""
"0000559149"	"00010300"	"10"	"223"	"-6"	"223"	"-6"	"c.223-6dup"	"r.(=)"	"p.(=)"	""
"0000559150"	"00010300"	"30"	"223"	"-6"	"223"	"-6"	"c.223-6dup"	"r.(=)"	"p.(=)"	""
"0000559151"	"00010300"	"30"	"222"	"10"	"222"	"10"	"c.222+10C>T"	"r.(=)"	"p.(=)"	""
"0000595626"	"00010300"	"70"	"967"	"0"	"967"	"0"	"c.967C>T"	"r.(?)"	"p.(Arg323Trp)"	""
"0000616137"	"00010300"	"30"	"1178"	"0"	"1178"	"0"	"c.1178G>A"	"r.(?)"	"p.(Arg393Gln)"	""
"0000616138"	"00010300"	"70"	"389"	"-2"	"389"	"-2"	"c.389-2A>C"	"r.spl?"	"p.?"	""
"0000616139"	"00010300"	"50"	"274"	"0"	"274"	"0"	"c.274G>C"	"r.(?)"	"p.(Glu92Gln)"	""
"0000623531"	"00010300"	"30"	"600"	"0"	"600"	"0"	"c.600G>A"	"r.(?)"	"p.(Pro200=)"	""
"0000623532"	"00010300"	"30"	"482"	"8"	"482"	"8"	"c.482+8G>A"	"r.(=)"	"p.(=)"	""
"0000623533"	"00010300"	"50"	"63"	"-2584"	"63"	"-2584"	"c.63-2584A>C"	"r.(=)"	"p.(=)"	""
"0000642002"	"00010300"	"70"	"1676"	"0"	"1676"	"0"	"c.1676C>T"	"r.(?)"	"p.(Thr559Met)"	"13"
"0000642003"	"00010300"	"99"	"1573"	"0"	"1573"	"0"	"c.1573G>A"	"r.(?)"	"p.(Glu525Lys)"	"13"
"0000642004"	"00010300"	"77"	"1525"	"0"	"1525"	"0"	"c.1525C>T"	"r.(?)"	"p.(Arg509Trp)"	"12"
"0000642005"	"00010300"	"99"	"1312"	"0"	"1312"	"0"	"c.1312C>T"	"r.(?)"	"p.(Arg438Trp)"	"10"
"0000642006"	"00010300"	"99"	"1045"	"0"	"1045"	"0"	"c.1045G>A"	"r.(?)"	"p.(Asp349Asn)"	"8"
"0000642007"	"00010300"	"30"	"822"	"0"	"822"	"0"	"c.822C>G"	"r.(?)"	"p.(Ile274Met)"	"7"
"0000642008"	"00010300"	"70"	"599"	"0"	"599"	"0"	"c.599C>T"	"r.(?)"	"p.(Pro200Leu)"	"5"
"0000642010"	"00010300"	"99"	"433"	"0"	"433"	"0"	"c.433T>C"	"r.(?)"	"p.(Tyr145His)"	"4"
"0000642011"	"00010300"	"90"	"440"	"0"	"441"	"0"	"c.440_441dup"	"r.(?)"	"p.(Tyr145Serfs*9)"	"4"
"0000642012"	"00010300"	"90"	"314"	"0"	"314"	"0"	"c.314T>A"	"r.(?)"	"p.(Leu105His)"	"3"
"0000657931"	"00010300"	"50"	"1485"	"0"	"1485"	"0"	"c.1485A>G"	"r.(?)"	"p.(Ile495Met)"	""
"0000680662"	"00010300"	"30"	"1674"	"0"	"1674"	"0"	"c.1674C>T"	"r.(?)"	"p.(Leu558=)"	""
"0000680663"	"00010300"	"30"	"222"	"10"	"222"	"10"	"c.222+10C>T"	"r.(=)"	"p.(=)"	""
"0000685774"	"00010300"	"70"	"295"	"0"	"295"	"0"	"c.295T>C"	"r.(?)"	"p.(Phe99Leu)"	""
"0000685798"	"00010300"	"90"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Leu205Val)"	""
"0000685800"	"00010300"	"70"	"805"	"0"	"805"	"0"	"c.805C>G"	"r.(?)"	"p.(Pro269Ala)"	""
"0000685801"	"00010300"	"70"	"905"	"0"	"905"	"0"	"c.905T>C"	"r.(?)"	"p.(Leu302Pro)"	""
"0000685802"	"00010300"	"50"	"989"	"0"	"989"	"0"	"c.989C>T"	"r.(?)"	"p.(Thr330Met)"	""
"0000685803"	"00010300"	"90"	"1040"	"0"	"1040"	"0"	"c.1040A>G"	"r.(?)"	"p.(Tyr347Cys)"	""
"0000685804"	"00010300"	"70"	"1688"	"0"	"1688"	"0"	"c.1688A>T"	"r.(?)"	"p.(Asn563Ile)"	""
"0000685805"	"00010300"	"70"	"1688"	"0"	"1688"	"0"	"c.1688A>T"	"r.(?)"	"p.(Asn563Ile)"	""
"0000685807"	"00010300"	"90"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Leu205Val)"	""
"0000685808"	"00010300"	"90"	"1702"	"0"	"1702"	"0"	"c.1702C>T"	"r.(?)"	"p.(Leu568Phe)"	""
"0000685809"	"00010300"	"90"	"1197"	"0"	"1198"	"0"	"c.1197_1198insAGA"	"r.(?)"	"p.(Glu399_Leu400insArg)"	""
"0000685810"	"00010300"	"90"	"797"	"0"	"797"	"0"	"c.797T>C"	"r.(?)"	"p.(Ile266Thr)"	""
"0000685811"	"00010300"	"90"	"1676"	"0"	"1676"	"0"	"c.1676C>T"	"r.(?)"	"p.(Thr559Met)"	""
"0000685812"	"00010300"	"90"	"1430"	"0"	"1430"	"0"	"c.1430G>A"	"r.(?)"	"p.(Arg477His)"	""
"0000685813"	"00010300"	"90"	"1513"	"0"	"1513"	"0"	"c.1513C>T"	"r.(?)"	"p.(Pro505Ser)"	""
"0000685814"	"00010300"	"90"	"1045"	"0"	"1045"	"0"	"c.1045G>A"	"r.(?)"	"p.(Asp349Asn)"	""
"0000685815"	"00010300"	"90"	"433"	"0"	"433"	"0"	"c.433T>C"	"r.(?)"	"p.(Tyr145His)"	""
"0000685816"	"00010300"	"90"	"433"	"0"	"433"	"0"	"c.433T>C"	"r.(?)"	"p.(Tyr145His)"	""
"0000685817"	"00010300"	"90"	"1430"	"0"	"1430"	"0"	"c.1430G>A"	"r.(?)"	"p.(Arg477His)"	""
"0000685818"	"00010300"	"90"	"1040"	"0"	"1040"	"0"	"c.1040A>G"	"r.(?)"	"p.(Tyr347Cys)"	""
"0000685819"	"00010300"	"90"	"731"	"0"	"731"	"0"	"c.731T>G"	"r.(?)"	"p.(Phe244Cys)"	""
"0000685820"	"00010300"	"90"	"297"	"0"	"297"	"0"	"c.297C>G"	"r.(?)"	"p.(Phe99Leu)"	""
"0000685821"	"00010300"	"90"	"959"	"0"	"959"	"0"	"c.959G>A"	"r.(?)"	"p.(Arg320His)"	""
"0000692138"	"00010300"	"30"	"1368"	"0"	"1368"	"0"	"c.1368C>T"	"r.(?)"	"p.(Cys456=)"	""
"0000692139"	"00010300"	"30"	"1258"	"0"	"1258"	"0"	"c.1258C>T"	"r.(?)"	"p.(Arg420Cys)"	""
"0000692140"	"00010300"	"50"	"979"	"0"	"979"	"0"	"c.979A>G"	"r.(?)"	"p.(Ile327Val)"	""
"0000692141"	"00010300"	"30"	"612"	"0"	"612"	"0"	"c.612A>G"	"r.(?)"	"p.(Thr204=)"	""
"0000697275"	"00010300"	"70"	"599"	"0"	"599"	"0"	"c.599C>T"	"r.(?)"	"p.(Pro200Leu)"	""
"0000697276"	"00010300"	"70"	"690"	"0"	"690"	"0"	"c.690A>T"	"r.(?)"	"p.(Arg230Ser)"	""
"0000697277"	"00010300"	"70"	"599"	"0"	"599"	"0"	"c.599C>T"	"r.(?)"	"p.(Pro200Leu)"	""
"0000697278"	"00010300"	"50"	"1658"	"0"	"1658"	"0"	"c.1658G>A"	"r.(?)"	"p.(Arg553Gln)"	""
"0000708753"	"00010300"	"70"	"295"	"0"	"295"	"0"	"c.295T>C"	"r.(?)"	"p.(Phe99Leu)"	""
"0000708754"	"00010300"	"70"	"1493"	"0"	"1493"	"0"	"c.1493C>T"	"r.(?)"	"p.(Ala498Val)"	""
"0000708755"	"00010300"	"90"	"1688"	"0"	"1688"	"0"	"c.1688A>T"	"r.(?)"	"p.(Asn563Ile)"	""
"0000708771"	"00010300"	"70"	"904"	"0"	"904"	"0"	"c.904C>T"	"r.(?)"	"p.(Leu302Phe)"	"8"
"0000708772"	"00010300"	"70"	"967"	"0"	"967"	"0"	"c.967C>T"	"r.(?)"	"p.(Arg323Trp)"	"9"
"0000708773"	"00010300"	"70"	"599"	"0"	"599"	"0"	"c.599C>T"	"r.(?)"	"p.(Pro200Leu)"	"6"
"0000708774"	"00010300"	"70"	"690"	"0"	"690"	"0"	"c.690A>T"	"r.(?)"	"p.(Arg230Ser)"	"7"
"0000708775"	"00010300"	"90"	"599"	"0"	"599"	"0"	"c.599C>T"	"r.(?)"	"p.(Pro200Leu)"	""
"0000708776"	"00010300"	"90"	"787"	"0"	"787"	"0"	"c.787T>G"	"r.(?)"	"p.(Phe263Val)"	""
"0000708783"	"00010300"	"90"	"1648"	"0"	"1660"	"0"	"c.1648_1660del"	"r.(?)"	"p.(Gly550Serfs*20)"	""
"0000708784"	"00010300"	"90"	"599"	"0"	"599"	"0"	"c.599C>T"	"r.(?)"	"p.(Pro200Leu)"	""
"0000725968"	"00010300"	"30"	"63"	"-20"	"63"	"-20"	"c.63-20C>T"	"r.(=)"	"p.(=)"	""
"0000725969"	"00010300"	"30"	"15"	"0"	"15"	"0"	"c.15G>A"	"r.(?)"	"p.(Gln5=)"	""
"0000736871"	"00010300"	"90"	"85"	"0"	"85"	"0"	"c.85G>C"	"r.(?)"	"p.(Ala29Pro)"	""
"0000736872"	"00010300"	"90"	"85"	"0"	"85"	"0"	"c.85G>C"	"r.(?)"	"p.(Ala29Pro)"	""
"0000736874"	"00010300"	"90"	"139"	"0"	"139"	"0"	"c.139del"	"r.(?)"	"p.(Gln47Serfs*2)"	""
"0000736875"	"00010300"	"90"	"238"	"0"	"238"	"0"	"c.238C>T"	"r.(?)"	"p.(Arg80Cys)"	""
"0000736877"	"00010300"	"90"	"529"	"0"	"529"	"0"	"c.529C>T"	"r.(?)"	"p.(Arg177Cys)"	""
"0000736878"	"00010300"	"90"	"529"	"0"	"529"	"0"	"c.529C>T"	"r.(?)"	"p.(Arg177Cys)"	""
"0000736882"	"00010300"	"90"	"953"	"0"	"953"	"0"	"c.953T>C"	"r.(?)"	"p.(Ile318Thr)"	""
"0000736883"	"00010300"	"90"	"958"	"0"	"958"	"0"	"c.958C>T"	"r.(?)"	"p.(Arg320Cys)"	""
"0000736893"	"00010300"	"90"	"1412"	"0"	"1412"	"0"	"c.1412C>T"	"r.(?)"	"p.(Pro471Leu)"	""
"0000760815"	"00010300"	"70"	"5"	"0"	"5"	"0"	"c.5C>T"	"r.(?)"	"p.(Ala2Val)"	""
"0000760816"	"00010300"	"90"	"1120"	"0"	"1120"	"0"	"c.1120C>T"	"r.(?)"	"p.(His374Tyr)"	""
"0000760817"	"00010300"	"90"	"1514"	"0"	"1514"	"0"	"c.1514C>G"	"r.(?)"	"p.(Pro505Arg)"	""
"0000760818"	"00010300"	"90"	"1514"	"0"	"1514"	"0"	"c.1514C>G"	"r.(?)"	"p.(Pro505Arg)"	""
"0000760819"	"00010300"	"90"	"787"	"0"	"787"	"0"	"c.787T>G"	"r.(?)"	"p.(Phe263Val)"	""
"0000760820"	"00010300"	"90"	"1670"	"0"	"1670"	"0"	"c.1670T>G"	"r.(?)"	"p.(Phe557Cys)"	""
"0000786895"	"00010300"	"70"	"139"	"0"	"139"	"0"	"c.139C>T"	"r.(?)"	"p.(Gln47Ter)"	""
"0000787315"	"00010300"	"50"	"680"	"0"	"680"	"0"	"c.680A>G"	"r.(?)"	"p.(Tyr227Cys)"	""
"0000807593"	"00010300"	"70"	"1248"	"0"	"1249"	"0"	"c.1248_1249del"	"r.(?)"	"p.(Glu417Argfs*7)"	""
"0000807594"	"00010300"	"50"	"679"	"0"	"679"	"0"	"c.679T>A"	"r.(?)"	"p.(Tyr227Asn)"	""
"0000807595"	"00010300"	"70"	"599"	"0"	"599"	"0"	"c.599C>T"	"r.(?)"	"p.(Pro200Leu)"	""
"0000813837"	"00010300"	"70"	"599"	"0"	"599"	"0"	"c.599C>T"	"r.(?)"	"p.(Pro200Leu)"	""
"0000813838"	"00010300"	"70"	"1676"	"0"	"1676"	"0"	"c.1676C>T"	"r.(?)"	"p.(Thr559Met)"	""
"0000813839"	"00010300"	"70"	"905"	"0"	"905"	"0"	"c.905T>C"	"r.(?)"	"p.(Leu302Pro)"	""
"0000813840"	"00010300"	"70"	"1688"	"0"	"1688"	"0"	"c.1688A>T"	"r.(?)"	"p.(Asn563Ile)"	""
"0000813841"	"00010300"	"70"	"1688"	"0"	"1688"	"0"	"c.1688A>T"	"r.(?)"	"p.(Asn563Ile)"	""
"0000813842"	"00010300"	"70"	"295"	"0"	"295"	"0"	"c.295T>C"	"r.(?)"	"p.(Phe99Leu)"	""
"0000813843"	"00010300"	"70"	"295"	"0"	"295"	"0"	"c.295T>C"	"r.(?)"	"p.(Phe99Leu)"	""
"0000813844"	"00010300"	"70"	"295"	"0"	"295"	"0"	"c.295T>C"	"r.(?)"	"p.(Phe99Leu)"	""
"0000854642"	"00010300"	"10"	"1674"	"0"	"1674"	"0"	"c.1674C>T"	"r.(?)"	"p.(Leu558=)"	""
"0000854643"	"00010300"	"50"	"1346"	"0"	"1346"	"0"	"c.1346G>C"	"r.(?)"	"p.(Gly449Ala)"	""
"0000854644"	"00010300"	"50"	"1083"	"0"	"1083"	"0"	"c.1083G>A"	"r.(?)"	"p.(Met361Ile)"	""
"0000854645"	"00010300"	"50"	"967"	"0"	"967"	"0"	"c.967C>T"	"r.(?)"	"p.(Arg323Trp)"	""
"0000854646"	"00010300"	"10"	"223"	"-6"	"223"	"-6"	"c.223-6dup"	"r.(=)"	"p.(=)"	""
"0000909810"	"00010300"	"90"	"1685"	"0"	"1685"	"0"	"c.1685G>C"	"r.(?)"	"p.(Cys562Ser)"	""
"0000914689"	"00010300"	"30"	"18"	"0"	"18"	"0"	"c.18G>A"	"r.(?)"	"p.(Ala6=)"	""
"0000950731"	"00010300"	"30"	"223"	"-6"	"223"	"-6"	"c.223-6T>A"	"r.(=)"	"p.(=)"	""
"0000971630"	"00010300"	"30"	"1784"	"0"	"1784"	"0"	"c.1784C>G"	"r.(?)"	"p.(Thr595Ser)"	""
"0000982080"	"00010300"	"50"	"1485"	"0"	"1485"	"0"	"c.1485A>G"	"r.(?)"	"p.(Ile495Met)"	""
"0000982081"	"00010300"	"50"	"1433"	"0"	"1433"	"0"	"c.1433C>T"	"r.(?)"	"p.(Ser478Phe)"	""
"0000982082"	"00010300"	"30"	"990"	"0"	"990"	"0"	"c.990G>C"	"r.(?)"	"p.(=)"	""
"0000982083"	"00010300"	"30"	"717"	"0"	"717"	"0"	"c.717T>G"	"r.(?)"	"p.(Phe239Leu)"	""
"0000982084"	"00010300"	"90"	"599"	"0"	"599"	"0"	"c.599C>T"	"r.(?)"	"p.(Pro200Leu)"	""
"0000982085"	"00010300"	"10"	"-219"	"0"	"-219"	"0"	"c.-219G>T"	"r.(?)"	"p.(=)"	""
"0001002590"	"00010300"	"50"	"-974"	"0"	"-974"	"0"	"c.-974G>A"	"r.(?)"	"p.(=)"	""
"0001041357"	"00010300"	"70"	"1219"	"0"	"1219"	"0"	"c.1219A>T"	"r.(?)"	"p.(Lys407*)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 76
"{{screeningid}}"	"{{variantid}}"
"0000265043"	"0000595626"
"0000286260"	"0000642002"
"0000286260"	"0000642008"
"0000286261"	"0000642003"
"0000286262"	"0000642004"
"0000286263"	"0000642005"
"0000286264"	"0000642006"
"0000286265"	"0000642007"
"0000286268"	"0000642010"
"0000286270"	"0000642011"
"0000286270"	"0000642012"
"0000310783"	"0000685774"
"0000310791"	"0000685798"
"0000310792"	"0000685800"
"0000310793"	"0000685801"
"0000310794"	"0000685802"
"0000310795"	"0000685803"
"0000310796"	"0000685804"
"0000310797"	"0000685805"
"0000310798"	"0000685807"
"0000310799"	"0000685808"
"0000310799"	"0000685809"
"0000310800"	"0000685810"
"0000310800"	"0000685811"
"0000310801"	"0000685812"
"0000310801"	"0000685813"
"0000310802"	"0000685814"
"0000310803"	"0000685815"
"0000310804"	"0000685816"
"0000310805"	"0000685817"
"0000310806"	"0000685818"
"0000310806"	"0000685820"
"0000310807"	"0000685819"
"0000310807"	"0000685821"
"0000315188"	"0000697275"
"0000315188"	"0000697276"
"0000315189"	"0000697277"
"0000315189"	"0000697278"
"0000325627"	"0000708753"
"0000325628"	"0000708754"
"0000325629"	"0000708755"
"0000325645"	"0000708771"
"0000325646"	"0000708772"
"0000325647"	"0000708773"
"0000325647"	"0000708774"
"0000325648"	"0000708775"
"0000325648"	"0000708776"
"0000325654"	"0000708783"
"0000325654"	"0000708784"
"0000337241"	"0000736871"
"0000337241"	"0000760818"
"0000337242"	"0000736872"
"0000337242"	"0000760817"
"0000337244"	"0000736874"
"0000337244"	"0000760820"
"0000337245"	"0000736875"
"0000337245"	"0000760815"
"0000337247"	"0000736877"
"0000337248"	"0000736878"
"0000337252"	"0000736882"
"0000337253"	"0000736883"
"0000337253"	"0000760816"
"0000337262"	"0000736893"
"0000337262"	"0000760819"
"0000375544"	"0000786895"
"0000375964"	"0000787315"
"0000386355"	"0000813837"
"0000386355"	"0000813838"
"0000386356"	"0000813839"
"0000386357"	"0000813840"
"0000386358"	"0000813841"
"0000386359"	"0000813842"
"0000386360"	"0000813843"
"0000386361"	"0000813844"
"0000430081"	"0000909810"
"0000450001"	"0000971630"