### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FXN)
# 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}}"
"FXN"	"frataxin"	"9"	"q21.11"	"unknown"	"NG_008845.2"	"UD_132118813313"	""	"http://www.LOVD.nl/FXN"	""	"1"	"3951"	"2395"	"606829"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/FXN_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2015-04-21 15:34:22"	"00006"	"2024-08-16 15:35:46"


## 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}}"
"00008218"	"FXN"	"transcript variant 1"	"003"	"NM_000144.4"	""	"NP_000135.2"	""	""	""	"-220"	"6948"	"633"	"71650479"	"71693993"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"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"
"04172"	"CM"	"cardiomyopathy (CM)"	""	""	""	""	""	"00006"	"2015-01-20 15:34:26"	"00006"	"2016-03-20 12:15:43"
"04242"	"FRDA"	"Friedreich ataxia (FRDA)"	"AR"	"229300"	""	""	""	"00006"	"2015-04-21 15:42:04"	"00006"	"2022-04-08 09:19:52"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"FXN"	"04242"


## Individuals ## Do not remove or alter this header ##
## Count = 39
"{{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}}"
"00037732"	""	""	""	"175"	""	"00006"	"{PMID:Campuzano 1996:8596916}"	"control individuals"	""	""	""	""	"0"	""	""	""	""
"00037733"	""	""	""	"2"	""	"00006"	"{PMID:Campuzano 1996:8596916}"	"family, 2 affected sibs"	""	""	"France"	""	"0"	""	""	""	""
"00037734"	""	""	""	"1"	""	"00006"	"{PMID:Campuzano 1996:8596916}"	"family, 1 affected"	""	""	"Spain"	""	"0"	""	""	""	""
"00037735"	""	""	""	"2"	""	"00006"	"{PMID:Campuzano 1996:8596916}"	"family, 2 affected sibs"	""	""	"Italy"	""	"0"	""	""	""	""
"00037736"	""	""	""	"2"	""	"00006"	"{PMID:Campuzano 1996:8596916}"	"family, 2 affected sibs"	""	""	"Italy"	""	"0"	""	""	""	""
"00037737"	""	""	""	"1"	""	"00006"	"{PMID:Campuzano 1996:8596916}"	"family, 1 affected"	""	""	"Italy"	""	"0"	""	""	""	""
"00037738"	""	""	""	"1"	""	"00006"	"{PMID:Campuzano 1996:8596916}"	"family, 1 affected"	""	""	"Italy"	""	"0"	""	""	""	""
"00037739"	""	""	""	"72"	""	"00006"	"{PMID:Campuzano 1996:8596916}"	"72 unrelated patients"	""	""	""	""	"0"	""	""	""	""
"00037740"	""	""	""	"1"	""	"01282"	""	"several unaffected carriers in family (both alleles)"	"F"	""	"Turkey"	">24y"	"0"	""	""	"Turkmenistan"	""
"00037741"	""	""	""	"3"	""	"00006"	"{PMID:Campuzano 1996:8596916}"	"2-generation family, 3 affecteds"	""	""	""	""	"0"	""	""	""	""
"00037742"	""	""	""	"2"	""	"00006"	"{PMID:Campuzano 1996:8596916}"	"2-generation family, 2 affecteds"	""	""	""	""	"0"	""	""	""	""
"00046847"	""	""	""	"1"	""	"00006"	"{PMID:Campuzano 1996:8596916}, {DOI:Campuzano 1996:10.1126/science.271.5254.1423}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/sister"	"M"	"no"	"United States"	""	"0"	""	""	"Acadian, Cajun"	""
"00294879"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00294880"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00407730"	""	""	""	"17"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"analysis 33 controls"	""	""	"Canada"	""	"0"	""	""	""	"control"
"00407731"	""	""	""	"36"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"analysis 33 controls"	""	""	"Canada"	""	"0"	""	""	""	"control"
"00407732"	""	""	""	"1"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"analysis 33 controls"	""	""	"Canada"	""	"0"	""	""	""	"control"
"00407733"	""	""	""	"1"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"analysis 33 controls"	""	""	"Canada"	""	"0"	""	""	""	"control"
"00407734"	""	""	""	"2"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"analysis 33 controls"	""	""	"Canada"	""	"0"	""	""	""	"control"
"00407735"	""	""	""	"1"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"analysis 33 controls"	""	""	"Canada"	""	"0"	""	""	""	"control"
"00407736"	""	""	""	"5"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"analysis 33 controls"	""	""	"Canada"	""	"0"	""	""	""	"AD0402"
"00407737"	""	""	""	"1"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"analysis 33 controls"	""	""	"Canada"	""	"0"	""	""	""	"187"
"00407738"	""	""	""	"1"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"analysis 33 controls"	""	""	"Canada"	""	"0"	""	""	""	"C9401"
"00407739"	""	""	""	"1"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"analysis 33 controls"	""	""	"Canada"	""	"0"	""	""	""	"1104-1106"
"00407740"	""	""	""	"1"	""	"00006"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Canada"	""	"0"	""	""	""	"2055"
"00407741"	""	""	""	"1"	""	"00006"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Canada"	""	"0"	""	""	""	"2099"
"00407742"	""	""	""	"2"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"2-generation family, 2 affected sibs"	""	"yes"	"Canada"	""	"0"	""	""	""	"affected"
"00407743"	""	""	""	"3"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"2-generation family, 3 affected sibs"	""	""	"Canada"	""	"0"	""	""	""	"affected"
"00407744"	""	""	""	"1"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"analysis 96 expanded chromosomes"	""	""	"Canada"	""	"0"	""	""	""	"affected"
"00407745"	""	""	""	"1"	""	"00006"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Canada"	""	"0"	""	""	""	"M6"
"00407746"	""	""	""	"21"	""	"00006"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Canada"	""	"0"	""	""	""	"control"
"00407759"	""	""	""	"3"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"2-generation family, 1 affected, unaffected heterozygous carrier father"	""	""	"Canada"	""	"0"	""	""	""	"patient"
"00407760"	""	""	"00407759"	"1"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"father"	"M"	""	"Canada"	""	"0"	""	""	""	""
"00407761"	""	""	"00407759"	"1"	""	"00006"	"{PMID:Montermini 1997:9259271}"	"mother"	"F"	""	"Canada"	""	"0"	""	""	""	""
"00407799"	""	""	""	"1"	""	"00006"	"{PMID:Zuhlke 2004:15340363}"	""	""	""	"Germany"	""	"0"	""	""	""	"Pat1"
"00407800"	""	""	""	"1"	""	"00006"	"{PMID:Zuhlke 2004:15340363}"	""	""	""	"Germany"	""	"0"	""	""	""	"Pat2"
"00407801"	""	""	""	"1"	""	"00006"	"{PMID:Zuhlke 2004:15340363}"	""	""	""	"Germany"	""	"0"	""	""	""	"Pat3"
"00428031"	""	""	""	"1"	""	"00006"	"{PMID:Bournazos 2022:34906502}"	"family, 1 affected"	""	""	"Australia"	""	"0"	""	""	""	"A219"
"00453180"	""	""	""	"1"	""	"02515"	"Fusco 2042, submitted"	""	"M"	""	"Italy"	""	"0"	""	""	"white"	"Fam442Pat474"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 39
"{{individualid}}"	"{{diseaseid}}"
"00037732"	"00000"
"00037733"	"04242"
"00037734"	"04242"
"00037735"	"04242"
"00037736"	"04242"
"00037737"	"04242"
"00037738"	"00000"
"00037739"	"04242"
"00037740"	"04242"
"00037741"	"04242"
"00037742"	"04242"
"00046847"	"04242"
"00294879"	"00198"
"00294880"	"00198"
"00407730"	"00000"
"00407731"	"00000"
"00407732"	"00000"
"00407733"	"00000"
"00407734"	"00000"
"00407735"	"00000"
"00407736"	"00000"
"00407737"	"00000"
"00407738"	"00000"
"00407739"	"00000"
"00407740"	"00000"
"00407741"	"00000"
"00407742"	"04242"
"00407743"	"04242"
"00407744"	"04242"
"00407745"	"00000"
"00407746"	"00000"
"00407759"	"04242"
"00407760"	"00000"
"00407761"	"00000"
"00407799"	"04242"
"00407800"	"04242"
"00407801"	"04242"
"00428031"	"00198"
"00453180"	"04172"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 04172, 04242
## Count = 20
"{{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}}"
"0000028248"	"00000"	"00037732"	"00006"	"Familial"	""	"08596916-con"	""	""	""	""	""	""	""	""	""	""	""
"0000028249"	"04242"	"00037733"	"00006"	"Familial, autosomal recessive"	""	"8596916-Fam1"	""	""	""	""	""	""	""	""	""	""	""
"0000028250"	"04242"	"00037734"	"00006"	"Familial, autosomal recessive"	""	"8596916-Fam2"	""	""	""	""	""	""	""	""	""	""	""
"0000028251"	"04242"	"00037735"	"00006"	"Familial, autosomal recessive"	""	"8596916-Fam3a"	""	""	""	""	""	""	""	""	""	""	""
"0000028252"	"04242"	"00037736"	"00006"	"Familial, autosomal recessive"	""	"8596917-Fam3b"	""	""	""	""	""	""	""	""	""	""	""
"0000028253"	"04242"	"00037737"	"00006"	"Familial, autosomal recessive"	""	"8596918-Fam3c"	""	""	""	""	""	""	""	""	""	""	""
"0000028254"	"00000"	"00037738"	"00006"	"Familial"	""	"08596916-con"	""	""	""	""	""	""	""	""	""	""	""
"0000028255"	"04242"	"00037739"	"00006"	"Familial"	""	"08596916-dis"	""	""	""	""	""	""	""	""	""	""	""
"0000028256"	"04242"	"00037740"	"01282"	"Isolated (sporadic)"	"24y"	"?"	""	""	""	""	""	""	""	""	""	""	""
"0000028257"	"04242"	"00037741"	"00006"	"Familial, autosomal recessive"	""	"08596916-Fam4"	""	""	""	""	""	""	""	""	""	""	""
"0000028258"	"04242"	"00037742"	"00006"	"Familial, autosomal recessive"	""	"08596916-Fam5"	""	""	""	""	""	""	""	""	""	""	""
"0000034304"	"04242"	"00046847"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000299877"	"04242"	"00407742"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Friedreich ataxia"	""
"0000299878"	"04242"	"00407743"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Friedreich ataxia"	""
"0000299879"	"04242"	"00407744"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Friedreich ataxia"	""
"0000299929"	"04242"	"00407801"	"00006"	"Familial, autosomal recessive"	""	"3t-ataxia, 4y-severe cardiomyopathy"	""	""	""	""	""	""	""	""	"FRDA"	"Friedreich\'s ataxia"	""
"0000299930"	"04242"	"00407800"	"00006"	"Familial, autosomal recessive"	""	"ataxia, scoliosis, 27y-wheelchair-bound, slow progression, signs of cardiac hypertrophy and dysarthria"	""	""	""	""	""	""	""	""	"FRDA"	"Friedreich\'s ataxia"	""
"0000299931"	"04242"	"00407799"	"00006"	"Familial, autosomal recessive"	""	"ataxia, foot deformity, scoliosis, axonal sensory neuropathy, mild dysarthria, 15y-wheelchairbound, 21y-hypertrophic cardiomyopathy, atrophy cervical spinal cord and upper cerebellar vermis"	""	""	""	""	""	""	""	""	"FRDA"	"Friedreich\'s ataxia"	""
"0000318977"	"00198"	"00428031"	"00006"	"Familial, autosomal recessive"	"32y"	""	""	""	""	""	""	""	""	""	"Friedreich ataxia"	""	""
"0000341826"	"04172"	"00453180"	"02515"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cardiomyopathy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 39
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000037964"	"00037732"	"1"	"00006"	"00006"	"2012-07-08 13:33:19"	""	""	"PCR;Southern"	"DNA"	""	""
"0000037965"	"00037733"	"1"	"00006"	"00006"	"2012-07-08 15:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000037966"	"00037734"	"1"	"00006"	"00006"	"2012-07-08 15:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000037967"	"00037735"	"1"	"00006"	"00006"	"2012-07-08 15:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000037968"	"00037736"	"1"	"00006"	"00006"	"2012-07-08 15:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000037969"	"00037737"	"1"	"00006"	"00006"	"2012-07-08 15:18:12"	""	""	"SEQ"	"DNA"	""	""
"0000037970"	"00037738"	"1"	"00006"	"00006"	"2012-07-08 15:18:12"	""	""	"PCRdig"	"DNA"	""	""
"0000037971"	"00037739"	"1"	"00006"	"00006"	"2012-07-08 15:18:12"	""	""	"PCR;Southern"	"DNA"	""	""
"0000037972"	"00037740"	"1"	"01282"	"01282"	"2012-07-06 16:06:55"	"00006"	"2012-07-08 13:12:49"	"SEQ"	"DNA"	""	""
"0000037973"	"00037741"	"1"	"00006"	"00006"	"2012-07-08 15:18:12"	""	""	"PCR;Southern"	"DNA"	""	""
"0000037974"	"00037742"	"1"	"00006"	"00006"	"2012-07-08 15:18:12"	""	""	"PCR;Southern"	"DNA"	""	""
"0000046956"	"00046847"	"1"	"00006"	"00006"	"2015-07-27 11:54:20"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000296047"	"00294879"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296048"	"00294880"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000408982"	"00407730"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408983"	"00407731"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408984"	"00407732"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408985"	"00407733"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408986"	"00407734"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408987"	"00407735"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408988"	"00407736"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408989"	"00407737"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408990"	"00407738"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408991"	"00407739"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408992"	"00407740"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408993"	"00407741"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408994"	"00407742"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408995"	"00407743"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408996"	"00407744"	"1"	"00006"	"00006"	"2022-04-08 09:40:54"	""	""	"SEQ"	"DNA"	""	""
"0000408997"	"00407745"	"1"	"00006"	"00006"	"2022-04-08 09:53:19"	""	""	"SEQ"	"DNA"	""	""
"0000408998"	"00407746"	"1"	"00006"	"00006"	"2022-04-08 09:55:11"	""	""	"SEQ"	"DNA"	""	""
"0000409011"	"00407759"	"1"	"00006"	"00006"	"2022-04-08 10:36:26"	""	""	"SEQ"	"DNA"	""	""
"0000409012"	"00407760"	"1"	"00006"	"00006"	"2022-04-08 10:46:52"	""	""	"SEQ"	"DNA"	""	""
"0000409013"	"00407761"	"1"	"00006"	"00006"	"2022-04-08 10:47:05"	""	""	"SEQ"	"DNA"	""	""
"0000409051"	"00407799"	"1"	"00006"	"00006"	"2022-04-08 18:38:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000409052"	"00407800"	"1"	"00006"	"00006"	"2022-04-08 18:45:37"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000409053"	"00407801"	"1"	"00006"	"00006"	"2022-04-08 18:45:55"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000429444"	"00428031"	"1"	"00006"	"00006"	"2022-12-19 13:11:26"	""	""	"RT-PCR;SEQ;SEQ-NG-RNA"	"DNA;RNA"	"whole blood, peripheral blood mononuclear cells"	"singleton WES"
"0000454791"	"00453180"	"1"	"02515"	"00006"	"2024-08-16 15:35:20"	""	""	"SEQ-NG"	"DNA"	"blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 35
"{{screeningid}}"	"{{geneid}}"
"0000037964"	"FXN"
"0000037965"	"FXN"
"0000037966"	"FXN"
"0000037967"	"FXN"
"0000037968"	"FXN"
"0000037969"	"FXN"
"0000037970"	"FXN"
"0000037971"	"FXN"
"0000037972"	"FXN"
"0000037973"	"FXN"
"0000037974"	"FXN"
"0000046956"	"FXN"
"0000408982"	"FXN"
"0000408983"	"FXN"
"0000408984"	"FXN"
"0000408985"	"FXN"
"0000408986"	"FXN"
"0000408987"	"FXN"
"0000408988"	"FXN"
"0000408989"	"FXN"
"0000408990"	"FXN"
"0000408991"	"FXN"
"0000408992"	"FXN"
"0000408993"	"FXN"
"0000408994"	"FXN"
"0000408995"	"FXN"
"0000408996"	"FXN"
"0000408997"	"FXN"
"0000408998"	"FXN"
"0000409011"	"FXN"
"0000409012"	"FXN"
"0000409013"	"FXN"
"0000409051"	"FXN"
"0000409052"	"FXN"
"0000409053"	"FXN"


## 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 = 81
"{{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}}"
"0000065265"	"0"	"11"	"9"	"0"	"0"	""	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)[ins3_54]"	""	"{PMID:Campuzano 1996:08596916}"	""	""	"intronic repeat expansion in normal range"	"Germline"	"-"	""	"0"	""	""	""	""	"benign"	""
"0000065266"	"0"	"90"	"9"	"71668109"	"71668109"	"subst"	"0"	"00006"	"FXN_000003"	"g.71668109T>G"	""	"{PMID:Campuzano 1996:08596916}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69053193T>G"	""	"pathogenic (recessive)"	""
"0000065267"	"0"	"90"	"9"	"71679852"	"71679852"	"subst"	"0"	"00006"	"FXN_000004"	"g.71679852A>G"	""	"{PMID:Campuzano 1996:08596916}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69064936A>G"	""	"pathogenic (recessive)"	""
"0000065268"	"0"	"90"	"9"	"71679929"	"71679929"	"subst"	"4.06091E-6"	"00006"	"FXN_000005"	"g.71679929A>T"	""	"{PMID:Campuzano 1996:08596916}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69065013A>T"	""	"pathogenic (recessive)"	""
"0000065269"	"0"	"90"	"9"	"71679929"	"71679929"	"subst"	"4.06091E-6"	"00006"	"FXN_000005"	"g.71679929A>T"	""	"{PMID:Campuzano 1996:08596916}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69065013A>T"	""	"pathogenic (recessive)"	""
"0000065270"	"0"	"90"	"9"	"71679929"	"71679929"	"subst"	"4.06091E-6"	"00006"	"FXN_000005"	"g.71679929A>T"	""	"{PMID:Campuzano 1996:08596916}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69065013A>T"	""	"pathogenic (recessive)"	""
"0000065271"	"0"	"90"	"9"	"71679929"	"71679929"	"subst"	"4.06091E-6"	"00006"	"FXN_000005"	"g.71679929A>T"	"1/417 control chromosomes"	"{PMID:Campuzano 1996:08596916}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69065013A>T"	""	"pathogenic (recessive)"	""
"0000065272"	"0"	"90"	"9"	"71650816"	"71656086"	"ins"	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)insN[(600_2700)]"	""	"{PMID:Campuzano 1996:08596916}"	""	"c.165+1340GAA(200_900)"	"intronic repeat expansion in disease range"	"Germline"	"?"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000065273"	"0"	"90"	"9"	"71650828"	"71650852"	"dup"	"0"	"01282"	"FXN_000006"	"g.71650828_71650852dup"	""	""	""	"153_178insCACCGACATCGATGCGACCTGCACG"	""	"Germline"	"yes"	""	"0"	""	""	"g.69035912_69035936dup"	""	"pathogenic (recessive)"	""
"0000065274"	"0"	"90"	"9"	"71650816"	"71656086"	"ins"	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)insN[(600_2700)]"	""	"{PMID:Campuzano 1996:08596916}"	""	""	"intronic repeat expansion in disease range"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000065275"	"0"	"90"	"9"	"71650816"	"71656086"	"ins"	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)insN[(600_2700)]"	""	"{PMID:Campuzano 1996:08596916}"	""	""	"intronic repeat expansion in disease range"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000065276"	"0"	"90"	"9"	"71650816"	"71656086"	"ins"	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)insN[(600_2700)]"	""	"{PMID:Campuzano 1996:08596916}"	""	""	"intronic repeat expansion in disease range"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000065277"	"0"	"90"	"9"	"71650816"	"71656086"	"ins"	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)insN[(600_2700)]"	""	"{PMID:Campuzano 1996:08596916}"	""	""	"intronic repeat expansion in disease range"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000065278"	"0"	"90"	"9"	"71650816"	"71656086"	"ins"	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)insN[(600_2700)]"	""	"{PMID:Campuzano 1996:08596916}"	""	""	"intronic repeat expansion in disease range"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000065279"	"0"	"90"	"9"	"71650816"	"71656086"	"ins"	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)insN[(600_2700)]"	""	"{PMID:Campuzano 1996:08596916}"	""	""	"intronic repeat expansion in disease range"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000065280"	"0"	"90"	"9"	"71650816"	"71656086"	"ins"	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)insN[(600_2700)]"	""	"{PMID:Campuzano 1996:08596916}"	""	""	"intronic repeat expansion in disease range"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000065281"	"0"	"90"	"9"	"71650816"	"71656086"	"ins"	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)insN[(600_2700)]"	""	"{PMID:Campuzano 1996:08596916}"	""	""	"intronic repeat expansion in disease range"	"Germline"	"?"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000065282"	"0"	"90"	"9"	"0"	"0"	""	"0"	"01282"	"FXN_000000"	"g.(71650816_71656086)[ins?]"	""	""	""	"expanded allele"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000065283"	"0"	"90"	"9"	"71650816"	"71656086"	"ins"	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)insN[(600_2700)]"	""	"{PMID:Campuzano 1996:08596916}"	""	""	"intronic repeat expansion in disease range"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000065284"	"0"	"90"	"9"	"71650816"	"71656086"	"ins"	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)insN[(600_2700)]"	""	"{PMID:Campuzano 1996:08596916}"	""	""	"intronic repeat expansion in disease range"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000075621"	"11"	"90"	"9"	"71668109"	"71668109"	"subst"	"0"	"00006"	"FXN_000003"	"g.71668109T>G"	""	"{PMID:Campuzano 1996:8596916}, {DOI:Campuzano 1996:10.1126/science.271.5254.1423}, {OMIM606829:0002}"	""	"TTA>TGA (Leu106X)"	""	"Germline"	"yes"	"rs104894105"	"0"	""	""	"g.69053193T>G"	""	"pathogenic (recessive)"	""
"0000075622"	"21"	"90"	"9"	"71650816"	"71656086"	""	"0"	"00006"	"FXN_000000"	"g.(71650816_71656086)insN[(2250_2550)]"	""	"{PMID:Campuzano 1996:8596916}, {DOI:Campuzano 1996:10.1126/science.271.5254.1423}"	""	""	"expanded allele (~2.5 kb larger)"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000247964"	"0"	"10"	"9"	"71650752"	"71650752"	"subst"	"0.997909"	"02325"	"FXN_000009"	"g.71650752A>G"	""	""	""	"FXN(NM_000144.4):c.54A>G (p.P18=), FXN(NM_181425.3):c.54A>G (p.P18=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69035836A>G"	""	"benign"	""
"0000251126"	"0"	"10"	"9"	"71661361"	"71661361"	"subst"	"0.00365583"	"02326"	"FXN_000013"	"g.71661361A>G"	""	""	""	"FXN(NM_181425.3):c.226A>G (p.M76V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69046445A>G"	""	"benign"	""
"0000253225"	"0"	"10"	"9"	"71650752"	"71650752"	"subst"	"0.997909"	"01943"	"FXN_000009"	"g.71650752A>G"	""	""	""	"FXN(NM_000144.4):c.54A>G (p.P18=), FXN(NM_181425.3):c.54A>G (p.P18=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69035836A>G"	""	"benign"	""
"0000283335"	"0"	"90"	"9"	"71650701"	"71650701"	"subst"	"0"	"02329"	"FXN_000008"	"g.71650701G>T"	""	""	""	"FXN(NM_181425.3):c.3G>T (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69035785G>T"	""	"pathogenic"	""
"0000287989"	"0"	"30"	"9"	"71650692"	"71650692"	"subst"	"0.0196073"	"01943"	"FXN_000007"	"g.71650692G>A"	""	""	""	"FXN(NM_000144.4):c.-7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69035776G>A"	""	"likely benign"	""
"0000287990"	"0"	"10"	"9"	"71652393"	"71652398"	"del"	"0"	"01943"	"FXN_000012"	"g.71652393_71652398del"	""	""	""	"FXN(NM_000144.4):c.165+1530_165+1535delTAATAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69037477_69037482del"	""	"benign"	""
"0000287991"	"0"	"90"	"9"	"71661386"	"71661386"	"del"	"0"	"01943"	"FXN_000014"	"g.71661386del"	""	""	""	"FXN(NM_000144.4):c.251delT (p.L84Wfs*7)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69046470del"	""	"pathogenic"	""
"0000287992"	"0"	"90"	"9"	"71668108"	"71668109"	"del"	"0"	"01943"	"FXN_000015"	"g.71668108_71668109del"	""	""	""	"FXN(NM_000144.4):c.316_317delTT (p.L106Sfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69053192_69053193del"	""	"pathogenic"	""
"0000287993"	"0"	"10"	"9"	"71668197"	"71668197"	"subst"	"0.517696"	"01943"	"FXN_000016"	"g.71668197T>C"	""	""	""	"FXN(NM_000144.4):c.384+21T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69053281T>C"	""	"benign"	""
"0000287994"	"0"	"90"	"9"	"71679858"	"71679858"	"subst"	"2.84276E-5"	"01943"	"FXN_000017"	"g.71679858G>T"	""	""	""	"FXN(NM_000144.4):c.389G>T (p.G130V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69064942G>T"	""	"pathogenic"	""
"0000287996"	"0"	"30"	"9"	"71650753"	"71650753"	"subst"	"0"	"01943"	"FXN_000011"	"g.71650753G>C"	""	""	""	"FXN(NM_000144.4):c.55G>C (p.A19P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69035837G>C"	""	"likely benign"	""
"0000338652"	"0"	"10"	"9"	"71650692"	"71650692"	"subst"	"0.0196073"	"02327"	"FXN_000007"	"g.71650692G>A"	""	""	""	"FXN(NM_000144.4):c.-7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69035776G>A"	""	"benign"	""
"0000347711"	"0"	"90"	"9"	"71650700"	"71650700"	"subst"	"0"	"02327"	"FXN_000018"	"g.71650700T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69035784T>C"	""	"pathogenic"	""
"0000347712"	"0"	"90"	"9"	"71650701"	"71650701"	"subst"	"0"	"02327"	"FXN_000008"	"g.71650701G>T"	""	""	""	"FXN(NM_181425.3):c.3G>T (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69035785G>T"	""	"pathogenic"	""
"0000348256"	"0"	"10"	"9"	"71650752"	"71650752"	"subst"	"0.997909"	"02327"	"FXN_000009"	"g.71650752A>G"	""	""	""	"FXN(NM_000144.4):c.54A>G (p.P18=), FXN(NM_181425.3):c.54A>G (p.P18=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69035836A>G"	""	"benign"	""
"0000349916"	"0"	"90"	"9"	"71679898"	"71679898"	"subst"	"0"	"02327"	"FXN_000020"	"g.71679898T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69064982T>A"	""	"pathogenic"	""
"0000350219"	"0"	"90"	"9"	"71668077"	"71668077"	"subst"	"0"	"02327"	"FXN_000019"	"g.71668077T>A"	""	""	""	"FXN(NM_181425.2):c.285T>A (p.Y95*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69053161T>A"	""	"pathogenic"	""
"0000538411"	"0"	"50"	"9"	"71650816"	"71650816"	"subst"	"0.000270209"	"01943"	"FXN_000021"	"g.71650816C>T"	""	""	""	"FXN(NM_181425.2):c.118C>T (p.R40C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69035900C>T"	""	"VUS"	""
"0000538412"	"0"	"90"	"9"	"71679912"	"71679912"	"del"	"0"	"01943"	"FXN_000022"	"g.71679912del"	""	""	""	"FXN(NM_000144.4):c.443delA (p.Q148Rfs*47)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69064996del"	""	"pathogenic"	""
"0000538413"	"0"	"30"	"9"	"71687663"	"71687663"	"subst"	"0"	"01943"	"FXN_000023"	"g.71687663C>A"	""	""	""	"FXN(NM_000144.4):c.618C>A (p.S206=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69072747C>A"	""	"likely benign"	""
"0000538414"	"0"	"30"	"9"	"71714842"	"71714842"	"subst"	"6.72585E-6"	"01943"	"FXN_000024"	"g.71714842C>T"	""	""	""	"FXN(NM_181425.2):NULL"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69099926C>T"	""	"likely benign"	""
"0000652736"	"1"	"50"	"9"	"71661314"	"71661314"	"subst"	"0.000328995"	"03575"	"FXN_000025"	"g.71661314G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs141858334}"	"Germline"	""	"rs141858334"	"0"	""	""	"g.69046398G>A"	""	"VUS"	""
"0000652737"	"1"	"90"	"9"	"71679858"	"71679858"	"subst"	"2.84276E-5"	"03575"	"FXN_000017"	"g.71679858G>T"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs104894107}"	"Germline"	""	"rs104894107"	"0"	""	""	"g.69064942G>T"	""	"pathogenic"	""
"0000656377"	"0"	"30"	"9"	"71650829"	"71650829"	"subst"	"1.13817E-5"	"01943"	"FXN_000026"	"g.71650829C>A"	""	""	""	"FXN(NM_181425.2):c.131C>A (p.T44N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69035913C>A"	""	"likely benign"	""
"0000722546"	"0"	"90"	"9"	"71668077"	"71668077"	"subst"	"0"	"01943"	"FXN_000019"	"g.71668077T>A"	""	""	""	"FXN(NM_181425.2):c.285T>A (p.Y95*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000804175"	"0"	"30"	"9"	"71650714"	"71650714"	"subst"	"0"	"01943"	"FXN_000027"	"g.71650714C>T"	""	""	""	"FXN(NM_181425.2):c.16C>T (p.R6C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000846011"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000043"	"g.71652203_71652220GAA[8]"	"17/66 control chromosomes"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[8]"	""	"benign"	""
"0000846012"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000035"	"g.71652203_71652220GAA[9]"	"36/66 control chromosomes"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[9]"	""	"benign"	""
"0000846013"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000044"	"g.71652203_71652220GAA[13]"	"1/66 control chromosomes"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[13]"	""	"benign"	""
"0000846014"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000045"	"g.71652203_71652220GAA[15]"	"1/66 control chromosomes"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[15]"	""	"benign"	""
"0000846015"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000046"	"g.71652203_71652220GAA[18]"	"2/66 control chromosomes"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[18]"	""	"benign"	""
"0000846016"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000036"	"g.71652203_71652220GAA[21]"	"1/66 control chromosomes"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[21]"	""	"benign"	""
"0000846017"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000047"	"g.71652203_71652220GAA[22]"	"5/66 control chromosomes"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[22]"	""	"benign"	""
"0000846018"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000048"	"g.71652203_71652220GAA[23]"	"1/66 control chromosomes"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[23]"	""	"benign"	""
"0000846019"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000029"	"g.71652203_71652220GAA[15]GAGGAA[8]GAA[4]"	"1/66 control chromosomes"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[15]GAGGAA[8]GAA[4]"	""	"benign"	""
"0000846020"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000028"	"g.71652203_71652220GAA[14]GAGGAA[9]GAA[4]"	"1/66 control chromosomes"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[14]GAGGAA[9]GAA[4]"	""	"benign"	""
"0000846021"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000030"	"g.71652203_71652220GAA[20]GAGGAA[5]GAA[4]"	""	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[20]GAGGAA[5]GAA[4]"	""	"benign"	""
"0000846022"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000049"	"g.71652203_71652220GAA[27]"	""	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[27]"	""	"benign"	""
"0000846023"	"3"	"10"	"9"	"71652310"	"71652318"	"dup"	"0"	"00006"	"FXN_000031"	"g.71652310_71652318dup"	""	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037394_69037402dup"	""	"benign"	""
"0000846024"	"1"	"10"	"9"	"71652284"	"71652294"	"del"	"0"	"00006"	"FXN_000032"	"g.71652284_71652294del"	""	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037368_69037378del"	""	"benign"	""
"0000846025"	"1"	"10"	"9"	"71652393"	"71652398"	"del"	"0"	"00006"	"FXN_000012"	"g.71652393_71652398del"	"1/96 FRDA chromosomes"	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037477_69037482del"	""	"benign"	""
"0000846026"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000050"	"g.71652203_71652220GAA[26]"	""	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[26]"	""	"benign"	""
"0000846027"	"1"	"10"	"9"	"71652393"	"71652398"	"del"	"0"	"00006"	"FXN_000012"	"g.71652393_71652398del"	"21/239 control chromosomes"	"{PMID:Montermini 1997:9259271}"	""	"TAA2 del"	""	"Germline"	""	""	"0"	""	""	"g.69037477_69047482del"	""	"benign"	""
"0000846051"	"11"	"90"	"9"	"71652020"	"71652419"	"ins"	"0"	"00006"	"FXN_000033"	"g.(71652020_71652419)insN[(1392)]"	""	"{PMID:Montermini 1997:9259271}"	""	""	"alleles in father GAA[21];[(1050)]"	"Germline"	""	""	"0"	""	""	"g.(69037104_69037503)insN[(1392)]"	""	"pathogenic (recessive)"	""
"0000846052"	"20"	"90"	"9"	"71652020"	"71652419"	"ins"	"0"	"00006"	"FXN_000033"	"g.(71652020_71652419)insN[(1392)]"	""	"{PMID:Montermini 1997:9259271}"	""	""	"alleles in mother GAA[9];[34], 34 allele expanded"	"De novo"	""	""	"0"	""	""	"g.(69037104_69037503)insN[(1392)]"	""	"pathogenic (recessive)"	""
"0000846053"	"1"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000036"	"g.71652203_71652220GAA[1]"	""	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[21]"	""	"benign"	""
"0000846054"	"11"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000034"	"g.71652203_71652220GAA[34]"	""	"{PMID:Montermini 1997:9259271}"	""	""	"hyperexpansion of allele in child"	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[34]"	""	"benign"	""
"0000846055"	"20"	"10"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000035"	"g.71652203_71652220GAA[9]"	""	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69037287_69037304GAA[9]"	""	"benign"	""
"0000846056"	"2"	"90"	"9"	"71652020"	"71652419"	"ins"	"0"	"00006"	"FXN_000037"	"g.(71652020_71652419)insN[(3132)]"	""	"{PMID:Montermini 1997:9259271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.(69037104_69037503)insN[(3132)]"	""	"pathogenic (recessive)"	""
"0000846105"	"21"	"90"	"9"	"71652020"	"71652419"	"ins"	"0"	"00006"	"FXN_000038"	"g.(71652020_71652419)insN[(2352_2532)]"	""	"{PMID:Zuhlke 2004:15340363}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.(69037104_69037503)insN[(2352_2532)]"	""	"pathogenic (recessive)"	""
"0000846106"	"21"	"90"	"9"	"71652020"	"71652419"	"ins"	"0"	"00006"	"FXN_000038"	"g.(71652020_71652419)insN[(2352_2532)]"	""	"{PMID:Zuhlke 2004:15340363}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.(69037104_69037503)insN[(2352_2532)]"	""	"pathogenic (recessive)"	""
"0000846107"	"11"	"90"	"9"	"71652020"	"71652419"	"ins"	"0"	"00006"	"FXN_000039"	"g.(71652020_71652419)insN[(2652_2832)]"	""	"{PMID:Zuhlke 2004:15340363}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.(69037104_69037503)insN[(2652_2832)]"	""	"pathogenic (recessive)"	""
"0000846108"	"21"	"90"	"9"	"71687602"	"71687602"	"subst"	"0"	"00006"	"FXN_000040"	"g.71687602T>G"	""	"{PMID:Zuhlke 2004:15340363}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000846109"	"11"	"90"	"9"	"71679907"	"71679907"	"subst"	"0"	"00006"	"FXN_000041"	"g.71679907C>G"	""	"{PMID:Zuhlke 2004:15340363}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000846110"	"11"	"90"	"9"	"71686213"	"71688988"	"del"	"0"	"00006"	"FXN_000042"	"g.71686213_71688988del"	""	"{PMID:Zuhlke 2004:15340363}"	""	"AL162730.26:g.120032_122808del"	"2776 bp deletion"	"Germline"	""	""	"0"	""	""	"NC_000009.12:g.69071297_69074072del"	""	"pathogenic (recessive)"	""
"0000852300"	"0"	"50"	"9"	"71687579"	"71687579"	"subst"	"0.000203041"	"01943"	"FXN_000051"	"g.71687579C>T"	""	""	""	"FXN(NM_181425.2):c.542C>T (p.T181M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000908917"	"1"	"70"	"9"	"71661296"	"71661296"	"subst"	"0"	"00006"	"FXN_000053"	"g.71661296T>G"	""	"{PMID:Bournazos 2022:34906502}"	""	""	"transcripts cycloheximide sensitive, cycloheximide insensitive"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.69046380T>G"	""	"likely pathogenic (recessive)"	""
"0000908941"	"2"	"90"	"9"	"71652203"	"71652220"	"repeat"	"0"	"00006"	"FXN_000052"	"g.71652203_71652220GAA[180]"	""	"{PMID:Bournazos 2022:34906502}"	""	"GAA repeat expansion"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.69037287_69037304GAA[180]"	""	"pathogenic (recessive)"	""
"0000989692"	"0"	"50"	"9"	"71679881"	"71679881"	"subst"	"1.21824E-5"	"02515"	"FXN_000054"	"g.71679881G>A"	""	"Fusco 2042, submitted"	""	""	"variant not definitively linked to disease"	"Germline"	""	"rs775491351"	"0"	""	""	"g.69064965G>A"	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes FXN
## Count = 81
"{{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}}"	"{{VariantOnTranscript/Haplotype}}"
"0000065265"	"00008218"	"11"	"0"	"0"	"0"	"0"	"c.(118_166-5215)[ins3_54]"	"r.(=)"	"p.(=)"	"1i"	"GAA[(7_22)]"
"0000065266"	"00008218"	"90"	"317"	"0"	"317"	"0"	"c.317T>G"	"r.(?)"	"p.(Leu106*)"	"3"	""
"0000065267"	"00008218"	"90"	"385"	"-2"	"385"	"-2"	"c.385-2A>G"	"r.spl"	"p.?"	"3i"	""
"0000065268"	"00008218"	"90"	"460"	"0"	"460"	"0"	"c.460A>T"	"r.(?)"	"p.(Ile154Phe)"	"4"	""
"0000065269"	"00008218"	"90"	"460"	"0"	"460"	"0"	"c.460A>T"	"r.(?)"	"p.(Ile154Phe)"	"4"	""
"0000065270"	"00008218"	"90"	"460"	"0"	"460"	"0"	"c.460A>T"	"r.(?)"	"p.(Ile154Phe)"	"4"	""
"0000065271"	"00008218"	"90"	"460"	"0"	"460"	"0"	"c.460A>T"	"r.(?)"	"p.(Ile154Phe)"	"4"	""
"0000065272"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[(600_2700)]"	"r.0?"	"p.0?"	"1i"	"GAA[(200_900)]"
"0000065273"	"00008218"	"90"	"130"	"0"	"154"	"0"	"c.130_154dup"	"r.(?)"	"p.(Pro52Hisfs*49)"	"1"	""
"0000065274"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[(600_2700)]"	"r.0?"	"p.0?"	"1i"	"GAA[(200_900)]"
"0000065275"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[(600_2700)]"	"r.0?"	"p.0?"	"1i"	"GAA[(200_900)]"
"0000065276"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[(600_2700)]"	"r.0?"	"p.0?"	"1i"	"GAA[(200_900)]"
"0000065277"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[(600_2700)]"	"r.0?"	"p.0?"	"1i"	"GAA[(200_900)]"
"0000065278"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[(600_2700)]"	"r.0?"	"p.0?"	"1i"	"GAA[(200_900)]"
"0000065279"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[(600_2700)]"	"r.0?"	"p.0?"	"1i"	"GAA[(200_900)]"
"0000065280"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[(600_2700)]"	"r.0?"	"p.0?"	"1i"	"GAA[(200_900)]"
"0000065281"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[(600_2700)]"	"r.0?"	"p.0?"	"1i"	"GAA[(200_900)]"
"0000065282"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[?]"	"r.0?"	"p.0?"	"1i"	"GA[(?)]"
"0000065283"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[(600_2700)]"	"r.0?"	"p.0?"	"1i"	"GAA[(200_900)]"
"0000065284"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[(600_2700)]"	"r.0?"	"p.0?"	"1i"	"GAA[(200_900)]"
"0000075621"	"00008218"	"90"	"317"	"0"	"317"	"0"	"c.317T>G"	"r.(?)"	"p.(Leu106*)"	"3"	""
"0000075622"	"00008218"	"90"	"118"	"0"	"166"	"-5215"	"c.(118_166-5215)insN[(2250_2550)]"	"r.0?"	"p.0?"	"1i"	"GAA[(750_850)]"
"0000247964"	"00008218"	"10"	"54"	"0"	"54"	"0"	"c.54A>G"	"r.(?)"	"p.(Pro18=)"	""	""
"0000251126"	"00008218"	"10"	"226"	"0"	"226"	"0"	"c.226A>G"	"r.(?)"	"p.(Met76Val)"	""	""
"0000253225"	"00008218"	"10"	"54"	"0"	"54"	"0"	"c.54A>G"	"r.(?)"	"p.(Pro18=)"	""	""
"0000283335"	"00008218"	"90"	"3"	"0"	"3"	"0"	"c.3G>T"	"r.(?)"	"p.(Met1?)"	""	""
"0000287989"	"00008218"	"30"	"-7"	"0"	"-7"	"0"	"c.-7G>A"	"r.(?)"	"p.(=)"	""	""
"0000287990"	"00008218"	"10"	"165"	"1530"	"165"	"1535"	"c.165+1530_165+1535del"	"r.(=)"	"p.(=)"	""	""
"0000287991"	"00008218"	"90"	"251"	"0"	"251"	"0"	"c.251del"	"r.(?)"	"p.(Leu84TrpfsTer7)"	""	""
"0000287992"	"00008218"	"90"	"316"	"0"	"317"	"0"	"c.316_317del"	"r.(?)"	"p.(Leu106SerfsTer5)"	""	""
"0000287993"	"00008218"	"10"	"384"	"21"	"384"	"21"	"c.384+21T>C"	"r.(=)"	"p.(=)"	""	""
"0000287994"	"00008218"	"90"	"389"	"0"	"389"	"0"	"c.389G>T"	"r.(?)"	"p.(Gly130Val)"	""	""
"0000287996"	"00008218"	"30"	"55"	"0"	"55"	"0"	"c.55G>C"	"r.(?)"	"p.(Ala19Pro)"	""	""
"0000338652"	"00008218"	"10"	"-7"	"0"	"-7"	"0"	"c.-7G>A"	"r.(?)"	"p.(=)"	""	""
"0000347711"	"00008218"	"90"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.(?)"	"p.(Met1?)"	""	""
"0000347712"	"00008218"	"90"	"3"	"0"	"3"	"0"	"c.3G>T"	"r.(?)"	"p.(Met1?)"	""	""
"0000348256"	"00008218"	"10"	"54"	"0"	"54"	"0"	"c.54A>G"	"r.(?)"	"p.(Pro18=)"	""	""
"0000349916"	"00008218"	"90"	"429"	"0"	"429"	"0"	"c.429T>A"	"r.(?)"	"p.(Tyr143Ter)"	""	""
"0000350219"	"00008218"	"90"	"285"	"0"	"285"	"0"	"c.285T>A"	"r.(?)"	"p.(Tyr95Ter)"	""	""
"0000538411"	"00008218"	"50"	"118"	"0"	"118"	"0"	"c.118C>T"	"r.(?)"	"p.(Arg40Cys)"	""	""
"0000538412"	"00008218"	"90"	"443"	"0"	"443"	"0"	"c.443del"	"r.(?)"	"p.(Gln148ArgfsTer47)"	""	""
"0000538413"	"00008218"	"30"	"618"	"0"	"618"	"0"	"c.618C>A"	"r.(?)"	"p.(Ser206=)"	""	""
"0000538414"	"00008218"	"30"	"27797"	"0"	"27797"	"0"	"c.*27164C>T"	"r.(=)"	"p.(=)"	""	""
"0000652736"	"00008218"	"50"	"179"	"0"	"179"	"0"	"c.179G>A"	"r.(?)"	"p.(Arg60His)"	""	""
"0000652737"	"00008218"	"90"	"389"	"0"	"389"	"0"	"c.389G>T"	"r.(?)"	"p.(Gly130Val)"	""	""
"0000656377"	"00008218"	"30"	"131"	"0"	"131"	"0"	"c.131C>A"	"r.(?)"	"p.(Thr44Asn)"	""	""
"0000722546"	"00008218"	"90"	"285"	"0"	"285"	"0"	"c.285T>A"	"r.(?)"	"p.(Tyr95Ter)"	""	""
"0000804175"	"00008218"	"30"	"16"	"0"	"16"	"0"	"c.16C>T"	"r.(?)"	"p.(Arg6Cys)"	""	""
"0000846011"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[8]"	"r.(?)"	"p.(=)"	""	"GAA[8]"
"0000846012"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[9]"	"r.(?)"	"p.(=)"	""	"GAA[9]"
"0000846013"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[13]"	"r.(?)"	"p.(=)"	""	"GAA[13]"
"0000846014"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[15]"	"r.(?)"	"p.(=)"	""	"GAA[15]"
"0000846015"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[18]"	"r.(?)"	"p.(=)"	""	"GAA[18]"
"0000846016"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[21]"	"r.(?)"	"p.(=)"	""	"GAA[21]"
"0000846017"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[22]"	"r.(?)"	"p.(=)"	""	"GAA[22]"
"0000846018"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[23]"	"r.(?)"	"p.(=)"	""	"GAA[23]"
"0000846019"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[15]GAGGAA[8]GAA[4]"	"r.(?)"	"p.(=)"	""	"GAA[35]"
"0000846020"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[14]GAGGAA[9]GAA[4]"	"r.(?)"	"p.(=)"	""	"GAA[36]"
"0000846021"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[20]GAGGAA[5]GAA[4]"	"r.(?)"	"p.(=)"	""	"GAA[34]"
"0000846022"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[27]"	"r.(?)"	"p.(=)"	""	"GAA[27]"
"0000846023"	"00008218"	"10"	"165"	"1447"	"165"	"1455"	"c.165+1447_165+1455dup"	"r.(?)"	"p.(=)"	""	""
"0000846024"	"00008218"	"10"	"165"	"1421"	"165"	"1431"	"c.165+1421_165+1431del"	"r.(?)"	"p.(=)"	""	""
"0000846025"	"00008218"	"10"	"165"	"1530"	"165"	"1535"	"c.165+1530_165+1535del"	"r.(?)"	"p.(=)"	""	""
"0000846026"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[26]"	"r.(?)"	"p.(=)"	""	"GAA[26]"
"0000846027"	"00008218"	"10"	"165"	"1530"	"165"	"1535"	"c.165+1530_165+1535del"	"r.(?)"	"p.(=)"	""	""
"0000846051"	"00008218"	"90"	"165"	"1157"	"165"	"1556"	"c.(165+1157_165+1556)insN[(1392)]"	"r.?"	"p.?"	""	"GAA[(650)]"
"0000846052"	"00008218"	"90"	"165"	"1157"	"165"	"1556"	"c.(165+1157_165+1556)insN[(1392)]"	"r.?"	"p.?"	""	"GAA[(650)]"
"0000846053"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[21]"	"r.(?)"	"p.(=)"	""	"GAA[26]"
"0000846054"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[34]"	"r.(?)"	"p.(=)"	""	"GAA[34]"
"0000846055"	"00008218"	"10"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[9]"	"r.(?)"	"p.(=)"	""	"GAA[9]"
"0000846056"	"00008218"	"90"	"165"	"1157"	"165"	"1556"	"c.(165+1157_165+1556)insN[(3132)]"	"r.?"	"p.?"	""	"GAA[(1050)]"
"0000846105"	"00008218"	"90"	"165"	"1157"	"165"	"1556"	"c.(165+1157_165+1556)insN[(2352_2532)]"	"r.?"	"p.?"	""	"GAA[(790_850)]"
"0000846106"	"00008218"	"90"	"165"	"1157"	"165"	"1556"	"c.(165+1157_165+1556)insN[(2352_2532)]"	"r.?"	"p.?"	""	"GAA[(790_850)]"
"0000846107"	"00008218"	"90"	"165"	"1157"	"165"	"1556"	"c.(165+1157_165+1556)insN[(2652_2832)]"	"r.?"	"p.?"	""	"GAA[(890_950)]"
"0000846108"	"00008218"	"90"	"557"	"0"	"557"	"0"	"c.557T>G"	"r.(?)"	"p.(Leu186Arg)"	""	""
"0000846109"	"00008218"	"90"	"438"	"0"	"438"	"0"	"c.438C>G"	"r.(?)"	"p.(Asn146Lys)"	""	""
"0000846110"	"00008218"	"90"	"483"	"-1315"	"1943"	"0"	"c.483-1315_*1310del"	"r.?"	"p.?"	"4i_5"	""
"0000852300"	"00008218"	"50"	"534"	"0"	"534"	"0"	"c.534C>T"	"r.(?)"	"p.(Asp178=)"	""	""
"0000908917"	"00008218"	"70"	"166"	"-5"	"166"	"-5"	"c.166-5T>G"	"r.[166_263del,166_384del]"	"p.[Ser56Leufs*4,Ser57_Ser129del]"	""	""
"0000908941"	"00008218"	"90"	"165"	"1340"	"165"	"1357"	"c.165+1340_165+1357GAA[180]"	"r.0?"	"p.0?"	""	"GAA[180]"
"0000989692"	"00008218"	"50"	"412"	"0"	"412"	"0"	"c.412G>A"	"r.(?)"	"p.(Gly138Arg)"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 56
"{{screeningid}}"	"{{variantid}}"
"0000037964"	"0000065265"
"0000037965"	"0000065266"
"0000037965"	"0000065276"
"0000037966"	"0000065267"
"0000037966"	"0000065277"
"0000037967"	"0000065268"
"0000037967"	"0000065278"
"0000037968"	"0000065269"
"0000037968"	"0000065279"
"0000037969"	"0000065270"
"0000037969"	"0000065280"
"0000037970"	"0000065271"
"0000037971"	"0000065272"
"0000037971"	"0000065281"
"0000037972"	"0000065273"
"0000037972"	"0000065282"
"0000037973"	"0000065274"
"0000037973"	"0000065283"
"0000037974"	"0000065275"
"0000037974"	"0000065284"
"0000046956"	"0000075621"
"0000046956"	"0000075622"
"0000296047"	"0000652736"
"0000296048"	"0000652737"
"0000408982"	"0000846011"
"0000408983"	"0000846012"
"0000408984"	"0000846013"
"0000408985"	"0000846014"
"0000408986"	"0000846015"
"0000408987"	"0000846016"
"0000408988"	"0000846017"
"0000408989"	"0000846018"
"0000408990"	"0000846019"
"0000408991"	"0000846020"
"0000408992"	"0000846021"
"0000408993"	"0000846022"
"0000408994"	"0000846023"
"0000408995"	"0000846024"
"0000408996"	"0000846025"
"0000408997"	"0000846026"
"0000408998"	"0000846027"
"0000409011"	"0000846051"
"0000409011"	"0000846052"
"0000409012"	"0000846053"
"0000409012"	"0000846056"
"0000409013"	"0000846054"
"0000409013"	"0000846055"
"0000409051"	"0000846105"
"0000409051"	"0000846110"
"0000409052"	"0000846106"
"0000409052"	"0000846109"
"0000409053"	"0000846107"
"0000409053"	"0000846108"
"0000429444"	"0000908917"
"0000429444"	"0000908941"
"0000454791"	"0000989692"