### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FGF14)
# 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}}"
"FGF14"	"fibroblast growth factor 14"	"13"	"q34"	"unknown"	"NG_008317.3"	"UD_132118671800"	""	"https://www.LOVD.nl/FGF14"	""	"1"	"3671"	"2259"	"601515"	"1"	"1"	"1"	"1"	"Establishment 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/FGF14_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00000"	"2012-09-13 00:00:00"	"00006"	"2022-12-21 14:07:49"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00000945"	"FGF14"	"transcript variant 1"	"002"	"NM_004115.3"	""	"NP_004106.1"	""	""	""	"1"	"2720"	"744"	"102373205"	"102568995"	"00000"	"2012-09-13 13:00:36"	""	""
"00025781"	"FGF14"	"transcript variant 2"	"001"	"NM_175929.2"	""	"NP_787125.1"	""	""	""	"-96"	"2735"	"759"	"103054124"	"102373205"	"00006"	"2022-12-22 09:02:21"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02844"	"SCA27A"	"ataxia, spinocerebellar, type 27A"	"AD"	"193003"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2024-01-31 08:59:15"
"04167"	"SCA"	"ataxia, spinocerebellar (SCA)"	""	""	""	""	""	"00006"	"2014-12-24 11:54:32"	"00006"	"2015-12-08 23:59:30"
"07066"	"SCA27B"	"ataxia, spinocerebellar, type 27B"	"AD"	"620174"	""	""	""	"00006"	"2024-01-31 09:00:00"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"FGF14"	"02844"
"FGF14"	"04167"
"FGF14"	"07066"


## Individuals ## Do not remove or alter this header ##
## Count = 89
"{{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}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00428078"	""	""	""	"14"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Netherlands"	""	"0"	""	""	""	"FamPatII3"
"00428079"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"brother"	"M"	""	"Netherlands"	""	"0"	""	""	""	"FamPatII5"
"00428080"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"brother"	"M"	""	"Netherlands"	""	"0"	""	""	""	"FamPatII7"
"00428081"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"sister"	"F"	""	"Netherlands"	""	"0"	""	""	""	"FamPatII12"
"00428082"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"brother"	"M"	""	"Netherlands"	""	"0"	""	""	""	"FamPatII13"
"00428083"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"daughter"	"F"	""	"Netherlands"	""	"0"	""	""	""	"FamPatIII4"
"00428084"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"niece"	"F"	""	"Netherlands"	""	"0"	""	""	""	"FamPatIII5"
"00428085"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"niece"	"F"	""	"Netherlands"	""	"0"	""	""	""	"FamPatIII6"
"00428086"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"nephew"	"M"	""	"Netherlands"	""	"0"	""	""	""	"FamPatIII7"
"00428087"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"niece"	"F"	""	"Netherlands"	""	"0"	""	""	""	"FamPatIII9"
"00428088"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"nephew"	"M"	""	"Netherlands"	""	"0"	""	""	""	"FamPatIII11"
"00428089"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"niece"	"F"	""	"Netherlands"	""	"0"	""	""	""	"FamPatIII14"
"00428090"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	"nephew"	"M"	""	"Netherlands"	""	"0"	""	""	""	"FamPatIII16"
"00428091"	""	""	"00428078"	"1"	""	"00006"	"{PMID:Van Swieten 2003:12489043}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"FamPatIV1"
"00428092"	""	""	""	"1"	""	"00006"	"{PMID:Dalski 2005:15470364}"	"2-generation family, 1 affected, likely affected father"	"M"	"no"	"Germany"	""	"0"	""	""	""	"patient"
"00428093"	""	""	""	"1"	""	"00006"	"{PMID:Dalski 2005:15470364}"	"analysis 208 cases"	""	""	"Germany"	""	"0"	""	""	""	"case"
"00428094"	""	""	""	"2"	""	"00006"	"{PMID:Dalski 2005:15470364}"	"analysis 208 controls"	""	""	"Germany"	""	"0"	""	""	""	"control"
"00428095"	""	""	""	"3"	""	"00006"	"{PMID:Dalski 2005:15470364}"	"analysis 208 cases"	""	""	"Germany"	""	"0"	""	""	""	"case"
"00428096"	""	""	""	"1"	""	"00006"	"{PMID:Dalski 2005:15470364}"	"analysis 208 controls"	""	""	"Germany"	""	"0"	""	""	""	"control"
"00428097"	""	""	""	"2"	""	"00006"	"{PMID:Dalski 2005:15470364}"	"analysis 208 cases"	""	""	"Germany"	""	"0"	""	""	""	"case"
"00428098"	""	""	""	"2"	""	"00006"	"{PMID:Dalski 2005:15470364}"	"analysis 208 cases"	""	""	"Germany"	""	"0"	""	""	""	"case"
"00428099"	""	""	""	"8"	""	"00006"	"{PMID:Dalski 2005:15470364}"	"analysis 208 cases"	""	""	"Germany"	""	"0"	""	""	""	"case"
"00428100"	""	""	""	"2"	""	"00006"	"{PMID:Dalski 2005:15470364}"	"analysis 208 controls"	""	""	"Germany"	""	"0"	""	""	""	"control"
"00428101"	""	""	""	"2"	""	"00006"	"{PMID:Miura 2019:30017992}"	"2-generation family, affected son/father"	"M"	""	"Japan"	""	"0"	""	""	""	"patient"
"00428102"	""	""	""	"4"	""	"00006"	"{PMID:Choquet 2015:25566820}"	"3-generation family, affected mother/3 sons"	"F"	""	"Canada"	""	"0"	""	""	"France"	"FamPatII2"
"00428103"	""	""	"00428102"	"1"	""	"00006"	"{PMID:Choquet 2015:25566820}"	"son"	"M"	""	"Canada"	""	"0"	""	""	"France"	"FamPatIII1"
"00428104"	""	""	"00428102"	"1"	""	"00006"	"{PMID:Choquet 2015:25566820}"	"son"	"M"	""	"Canada"	""	"0"	""	""	"France"	"FamPatII2"
"00428105"	""	""	""	"2"	""	"00006"	"{PMID:Misceo 2009:19471976}"	"2-generation family, affected daughter/mother"	"F"	""	"Norway"	""	"0"	""	""	""	"family"
"00428106"	""	""	"00428105"	"1"	""	"00006"	"{PMID:Misceo 2009:19471976}"	"mother"	"F"	""	"Norway"	""	"0"	""	""	""	"family"
"00428107"	""	""	""	"1"	""	"00006"	"{PMID:Shimojima 2012:21600715}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	"Japan"	""	"0"	""	""	""	"patient"
"00428108"	""	""	""	"3"	""	"00006"	"{PMID:Coebergh 2014:24252256}"	"4-generation family, affected son/mother/grandmother"	"M"	""	"Netherlands"	""	"0"	""	""	""	"family"
"00428109"	""	""	"00428108"	"1"	""	"00006"	"{PMID:Coebergh 2014:24252256}"	"mother"	"M"	""	"Netherlands"	""	"0"	""	""	""	"family"
"00428110"	""	""	"00428108"	"1"	""	"00006"	"{PMID:Coebergh 2014:24252256}"	"grandmother"	"M"	""	"Netherlands"	""	"0"	""	""	""	"family"
"00428111"	""	""	""	"1"	""	"00006"	"{PMID:Choi 2017:29062094}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"Pat32"
"00428114"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Australia"	""	"0"	""	""	""	"AA2807"
"00428115"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"F"	""	"Australia"	""	"0"	""	""	""	"AA2903"
"00428116"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Australia"	""	"0"	""	""	""	"AA2831"
"00428117"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"F"	""	"Australia"	""	"0"	""	""	""	"AA2770"
"00428118"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Australia"	""	"0"	""	""	""	"AA0441"
"00428119"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Australia"	""	"0"	""	""	""	"AA2895"
"00428120"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Australia"	""	"0"	""	""	""	"AA2775"
"00428121"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Australia"	""	"0"	""	""	""	"AA2809"
"00428122"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"F"	""	"Australia"	""	"0"	""	""	""	"AA2845"
"00428123"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Australia"	""	"0"	""	""	""	"AA2766"
"00428124"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"F"	""	"Australia"	""	"0"	""	""	""	"AA2908"
"00428125"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"F"	""	"Australia"	""	"0"	""	""	""	"AA2933"
"00428126"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Australia"	""	"0"	""	""	""	"AA2926"
"00428127"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"L-18362"
"00428128"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"L-17665"
"00428129"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"L-17672"
"00428130"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"L-18384"
"00428131"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"L-20363"
"00428132"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"L-15166"
"00428133"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"L-15764"
"00428134"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"L-14630"
"00428135"	""	""	""	"3"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"2-generation familu, 1 affected, unaffected parents"	"F"	""	"Germany"	""	"0"	""	""	""	"L-10410"
"00428136"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"L-15891"
"00428137"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"L-15754"
"00428138"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"L-14575"
"00428139"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"L-15713"
"00428140"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"L-15739"
"00428141"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"L-15629"
"00428142"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 311 controls"	""	""	"Australia"	""	"0"	""	""	""	"ASD1745"
"00428143"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 311 controls"	""	""	"Australia"	""	"0"	""	""	""	"C0063"
"00428144"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 311 controls"	""	""	"Australia"	""	"0"	""	""	""	"ASD1808"
"00428145"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 311 controls"	""	""	"Australia"	""	"0"	""	""	""	"ASD1887"
"00428146"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 311 controls"	""	""	"Australia"	""	"0"	""	""	""	"C0090"
"00428147"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 190 controls"	""	""	"Germany"	""	"0"	""	""	""	"L-3657"
"00428148"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 190 controls"	""	""	"Germany"	""	"0"	""	""	""	"L-3656"
"00428149"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 190 controls"	""	""	"Germany"	""	"0"	""	""	""	"L-3501"
"00428150"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 190 controls"	""	""	"Germany"	""	"0"	""	""	""	"L-3344"
"00428151"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 190 controls"	""	""	"Germany"	""	"0"	""	""	""	"D11"
"00428152"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 190 controls"	""	""	"Germany"	""	"0"	""	""	""	"L-3479"
"00428153"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 190 controls"	""	""	"Germany"	""	"0"	""	""	""	"L-3013"
"00428154"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 190 controls"	""	""	"Germany"	""	"0"	""	""	""	"A10"
"00428155"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 190 controls"	""	""	"Germany"	""	"0"	""	""	""	"C3"
"00428156"	""	""	""	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"analysis 190 controls"	""	""	"Germany"	""	"0"	""	""	""	"A5"
"00428157"	""	""	"00428135"	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"father"	"M"	""	"Germany"	""	"0"	""	""	""	"L-10409"
"00428158"	""	""	"00428135"	"1"	""	"00006"	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	"mother"	"F"	""	"Germany"	""	"0"	""	""	""	"L-10408"
"00447884"	""	""	""	"1"	""	"00006"	"{PMID:Piarroux 2020:32162847}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"France"	""	"0"	""	""	""	"FamBPatII2"
"00447885"	""	""	""	"7"	""	"00006"	"{PMID:Piarroux 2020:32162847}"	"4-generation family, several affected"	"M"	""	"France"	""	"0"	""	""	""	"FamAPatIV10"
"00447886"	""	""	"00447885"	"1"	""	"00006"	"{PMID:Piarroux 2020:32162847}"	"father"	"M"	""	"France"	""	"0"	""	""	""	"FamAPatIII11"
"00447887"	""	""	"00447885"	"1"	""	"00006"	"{PMID:Piarroux 2020:32162847}"	"twin brother"	"M"	""	"France"	""	"0"	""	""	""	"FamAPatIV5"
"00447888"	""	""	"00447885"	"1"	""	"00006"	"{PMID:Piarroux 2020:32162847}"	"twin brother"	"M"	""	"France"	""	"0"	""	""	""	"FamAPatIV6"
"00447889"	""	""	"00447885"	"1"	""	"00006"	"{PMID:Piarroux 2020:32162847}"	"mother of twin brothers"	"F"	""	"France"	""	"0"	""	""	""	"FamAPatIII8"
"00447890"	""	""	"00447885"	"1"	""	"00006"	"{PMID:Piarroux 2020:32162847}"	"Daughter of III10"	"F"	""	"France"	""	"0"	""	""	""	"FamAPatIV9"
"00447891"	""	""	"00447885"	"1"	""	"00006"	"{PMID:Piarroux 2020:32162847}"	"mother of IV9"	"F"	""	"France"	""	"0"	""	""	""	"FamAPatIII10"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 89
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00000209"	"01157"
"00428078"	"04167"
"00428079"	"04167"
"00428080"	"04167"
"00428081"	"04167"
"00428082"	"04167"
"00428083"	"04167"
"00428084"	"04167"
"00428085"	"04167"
"00428086"	"04167"
"00428087"	"04167"
"00428088"	"04167"
"00428089"	"04167"
"00428090"	"04167"
"00428091"	"04167"
"00428092"	"04167"
"00428093"	"04167"
"00428094"	"00000"
"00428095"	"04167"
"00428096"	"00000"
"00428097"	"04167"
"00428098"	"04167"
"00428099"	"04167"
"00428100"	"00000"
"00428101"	"04167"
"00428102"	"04167"
"00428103"	"04167"
"00428104"	"04167"
"00428105"	"04167"
"00428106"	"04167"
"00428107"	"00198"
"00428108"	"04167"
"00428109"	"04167"
"00428110"	"04167"
"00428111"	"04167"
"00428114"	"04167"
"00428115"	"04167"
"00428116"	"04167"
"00428117"	"04167"
"00428118"	"04167"
"00428119"	"04167"
"00428120"	"04167"
"00428121"	"04167"
"00428122"	"04167"
"00428123"	"04167"
"00428124"	"04167"
"00428125"	"04167"
"00428126"	"04167"
"00428127"	"04167"
"00428128"	"04167"
"00428129"	"04167"
"00428130"	"04167"
"00428131"	"04167"
"00428132"	"04167"
"00428133"	"04167"
"00428134"	"04167"
"00428135"	"04167"
"00428136"	"04167"
"00428137"	"04167"
"00428138"	"04167"
"00428139"	"04167"
"00428140"	"04167"
"00428141"	"04167"
"00428142"	"00000"
"00428143"	"00000"
"00428144"	"00000"
"00428145"	"00000"
"00428146"	"00000"
"00428147"	"00000"
"00428148"	"00000"
"00428149"	"00000"
"00428150"	"00000"
"00428151"	"00000"
"00428152"	"00000"
"00428153"	"00000"
"00428154"	"00000"
"00428155"	"00000"
"00428156"	"00000"
"00428157"	"00000"
"00428158"	"00000"
"00447884"	"04167"
"00447885"	"04167"
"00447886"	"04167"
"00447887"	"04167"
"00447888"	"04167"
"00447889"	"04167"
"00447890"	"04167"
"00447891"	"04167"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01157, 02844, 04167, 07066
## Count = 64
"{{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}}"
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	"3w"	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	"07y04m"	""	""	""	""	""	""	""	""	""
"0000319023"	"04167"	"00428078"	"00006"	"Familial, autosomal dominant"	"79y"	"30y-onset ataxia; wheelchair bound; aggressive outbursts; gaze-evoked nystagmus; unintelligible speech; tremor; moderate limb ataxia"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319024"	"04167"	"00428079"	"00006"	"Familial, autosomal dominant"	"71y"	"34y-onset ataxia; wheelchair bound; treated for depression; no gaze-evoked nystagmus; unintelligible speech; tremor; moderate limb ataxia; MRI brain cerebellar atrophy"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319025"	"04167"	"00428080"	"00006"	"Familial, autosomal dominant"	"69y"	"27y-onset ataxia; walking with cane; no psychiatric episodes; gaze-evoked nystagmus; dysarthria; tremor; moderate limb ataxia; moderate gait ataxia; MRI brain cerebellar atrophy"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319026"	"04167"	"00428081"	"00006"	"Familial, autosomal dominant"	"64y"	"40y-onset ataxia; impaired walking; no psychiatric episodes; no gaze-evoked nystagmus; dysarthria; tremor; limb ataxia; moderate gait ataxia; CTbrain 60y-normal"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319027"	"04167"	"00428082"	"00006"	"Familial, autosomal dominant"	"61y"	"30y-onset ataxia; walking mild unsteadiness; no psychiatric episodes; gaze-evoked nystagmus; dysarthria; tremor; limb ataxia; gait ataxia"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319028"	"04167"	"00428083"	"00006"	"Familial, autosomal dominant"	"54y"	"40y-onset ataxia; walking mild unsteadiness; no psychiatric episodes; gaze-evoked nystagmus; dysarthria; tremor; limb ataxia; gait ataxia; MRI brain normal"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319029"	"04167"	"00428084"	"00006"	"Familial, autosomal dominant"	"31y"	"30y-onset ataxia; walking mild unsteadiness; aggressive outbursts; gaze-evoked nystagmus; dysarthria; tremor; limb ataxia; gait ataxia"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319030"	"04167"	"00428085"	"00006"	"Familial, autosomal dominant"	"30y"	"walking normal; aggressive outbursts; gaze-evoked nystagmus; dysarthria; no tremor; limb ataxia; no gait ataxia"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319031"	"04167"	"00428086"	"00006"	"Familial, autosomal dominant"	"27y"	"walking normal; aggressive outbursts; gaze-evoked nystagmus; dysarthria; tremor; no limb ataxia; gait ataxia; MRI brain normal"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319032"	"04167"	"00428087"	"00006"	"Familial, autosomal dominant"	"48y"	"28y-onset ataxia; walking mild unsteadiness; no psychiatric episodes; gaze-evoked nystagmus; dysarthria; tremor; limb ataxia; gait ataxia; MRI brain normal"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319033"	"04167"	"00428088"	"00006"	"Familial, autosomal dominant"	"42y"	"37y-onset ataxia; walking mild unsteadiness; no psychiatric episodes; gaze-evoked nystagmus; dysarthria; tremor; no limb ataxia; gait ataxia; MRI brain normal"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319034"	"04167"	"00428089"	"00006"	"Familial, autosomal dominant"	"43y"	"40y-onset ataxia; walking mild unsteadiness; no psychiatric episodes; gaze-evoked nystagmus; dysarthria; no tremor; no limb ataxia; gait ataxia; MRI brain normal"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319035"	"04167"	"00428090"	"00006"	"Familial, autosomal dominant"	"39y"	"walking mild unsteadiness; aggressive outbursts; gaze-evoked nystagmus; no dysarthria; tremor; no limb ataxia; no gait ataxia"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319036"	"04167"	"00428091"	"00006"	"Familial, autosomal dominant"	"24y"	"walking normal; treated for depression; gaze-evoked nystagmus; no dysarthria; tremor; limb ataxia; gait ataxia; MRI brain normal"	""	""	""	""	""	""	""	""	"SCA27"	"cerebellar ataxia"	""
"0000319037"	"04167"	"00428092"	"00006"	"Familial, autosomal dominant"	"18y"	"see paper; ..., mild mental retardation (IQ 70), inborn strabismus, red–green color vision defect; <12y-motor development normal; 12y-slowly progressing gait disturbances, memory loss, depressive mood; 13y-truncalataxia, gait ataxia, small-amplitude tremor both hands, gaze-evoked nystagmus, pes cavus; mild sensory axonal neuropathy; MRI brain normal; father gait disturbances, memory loss, pes cavus, died of anaplastic astrocytoma"	""	""	""	""	""	""	""	""	"SCA27"	"spinocerebellar ataxia"	""
"0000319038"	"04167"	"00428101"	"00006"	"Familial, autosomal dominant"	"62y"	"see paper; ..., spinocerebellar ataxia, graduated from junior high school; 47y-slowly progressive dysarthria/gait disturbance; pathological saccadic dysmetria, saccadic intrusions into smooth pursuit eye movements, dysarthria, limb/truncal ataxia; wide-based gait, did not require a walking stick; normal limb muscle strength; deep tendon reflexes normal/slightly reduced, pathological reflexes absent; mildly impaired vibration sense lower limbs; no urinary dysfunction; MRI brain cerebellar atrophy without brainstem involvement"	"47y"	""	""	""	""	""	""	""	"SCA27"	"spinocerebellar ataxia"	""
"0000319039"	"04167"	"00428102"	"00006"	"Unknown"	""	"migraine, rare episodes of vertigo/incoordination; treatment with acetazolamide attempted and discontinued due to adverse effects (limb numbness); neurological examination normal, sustained horizontal nystagmus"	""	""	""	""	""	""	""	""	"SCA27"	"spinocerebellar ataxia"	""
"0000319040"	"04167"	"00428103"	"00006"	"Familial, autosomal dominant"	"31y"	"see paper; ..., 26y-episodes incoordination, unsteady gait, vertical oscillopsy, dysarthria  starting abruptly accompanied by headaches; paroxystic episodes of right upper limb dystonic postures; 29y-attacks  ataxia/incoordination followed by progressive permanent cerebellar ataxia, some dysarthria/tremor, with episodes of aggravation; horizontal nystagmus, mild upper/lower extremity hypotonia, distal limb postural tremor, very mild dysarthria, dysmetria, dysdiadochokinesis, ataxia; MRI brain normal; EMG normal; EEG normal"	"26y"	""	""	""	""	""	""	""	"SCA27"	"spinocerebellar ataxia"	""
"0000319041"	"04167"	"00428104"	"00006"	"Familial, autosomal dominant"	""	"milder form clinical picture older brother; attacks 1-4/week lasting 20 min, characterized by dysarthria, unsteady gait, diplopia thought triggered by fatigue or exercise; no association with headaches; upbeat/downbeat nystagmus"	""	""	""	""	""	""	""	""	"SCA27"	"spinocerebellar ataxia"	""
"0000319042"	"04167"	"00428105"	"00006"	"Familial, autosomal dominant"	"05y06m"	"see paper; ..., birth-psychomotor delay, microcephaly; 1y-cerebellar dysfunction, truncal unsteadiness, progressed to gait ataxia, axial tremor with titubation of head /neck, action/intention tremor, dysarthria; no nystagmus; open mouth, drooling"	""	""	""	""	""	""	""	""	"SCA27"	"spinocerebellar ataxia"	""
"0000319043"	"04167"	"00428106"	"00006"	"Familial, autosomal dominant"	"42y"	"see paper; ..., works as cleaner; child seizures; intellectual disability, special school for learning disabilities; became unsteady while standing with eyes closed; unable keep balance standing on one foot catching ball; sensory modalities normal; deep tendon reflexes slightly increased, plantar reflexes equivocal; high arched feet; EMG normal"	""	""	""	""	""	""	""	""	"SCA27"	"spinocerebellar ataxia"	""
"0000319044"	"00198"	"00428107"	"00006"	"Isolated (sporadic)"	"03y09m"	"see paper; ..., brith 40w, weight 3370 g (75th–90th centile), height 51 cm (75th–90th centile), OFC 32.5 cm (10th–25th centile); 8m-episodic attacks muscle atonus, upward turning both eyes triggered by intense crying (occurred several times a week)"	"00y08m"	""	""	""	""	""	""	""	"SCA27"	"paroxysmal non-kinesigenic dyskinesia"	""
"0000319045"	"04167"	"00428108"	"00006"	"Familial, autosomal dominant"	"02y"	"see paper; ..., mild ataxia, abnormal eye movements repeatedly deteriorated with fever, unable to sit/walk during fever episode"	""	""	""	""	""	""	""	""	"SCA27"	"spinocerebellar ataxia"	""
"0000319046"	"04167"	"00428109"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., abnormal eye movements, unable to perform tandem gait walking"	""	""	""	""	""	""	""	""	"SCA27"	"spinocerebellar ataxia"	""
"0000319047"	"04167"	"00428110"	"00006"	"Familial, autosomal dominant"	"02y"	"see paper; ..., 49y-head tremor; 66y-postural hand tremor, mild cerebellar (especially gait) ataxia ; 2 sisters and mother eported to have similar problems"	""	""	""	""	""	""	""	""	"SCA27"	"spinocerebellar ataxia"	""
"0000319048"	"04167"	"00428111"	"00006"	"Unknown"	"46y"	"episodic ataxia (hours); dizziness, headache; downbeat nystagmus"	"39y"	""	""	""	""	""	""	""	"SCA27"	"episodic ataxia"	""
"0000319050"	"04167"	"00428114"	"00006"	"Unknown"	"57y"	"cerebellar ataxia; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); cerebellar dysarthria (HP:0001260); no sensory and/or motor impairment on NCS; MRI brain no atrophy; no extracerebellar features"	"47y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319051"	"04167"	"00428115"	"00006"	"Unknown"	"68y"	"cerebellar ataxia, unilateral vestibulopathy, autonomic nervous system and hyper-reflexia; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); cerebellar dysarthria (HP:0001260); unilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; autonomic nervous system dysfunction (HP:0002270); MRI brain no atrophy; hyper-reflexia"	"58y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319052"	"04167"	"00428116"	"00006"	"Unknown"	"66y"	"cerebellar ataxia; no upper limb ataxia (-HP:0001251); gait ataxia (HP:0002066); MRI brain anterior cerebellar atrophy; spasticity"	""	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319053"	"04167"	"00428117"	"00006"	"Unknown"	"71y"	"cerebellar ataxia and cough; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); cerebellar dysarthria (HP:0001260); no hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain superior and posterior vermal, mild hemispheric atrophy; chronic cough"	"55y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319054"	"04167"	"00428118"	"00006"	"Unknown"	"71y"	"cerebellar ataxia; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); cerebellar dysarthria (HP:0001260); no hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain no atrophy; no extracerebellar features"	"65y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319055"	"04167"	"00428119"	"00006"	"Unknown"	"54y"	"cerebellar ataxia and spasticity; no upper limb ataxia (-HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); MRI brain generalized cerebellar atrophy, principally vermis; lower limb hyper-reflexia, spasticity"	"46y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319056"	"04167"	"00428120"	"00006"	"Unknown"	"68y"	"cerebellar ataxia, bilateral vestibulopathy, autonomic nervous system and hyper-reflexia; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; autonomic nervous system dysfunction (HP:0002270); MRI brain anterior and posterior vermal, mild hemispheric atrophy; lower limb hyper-reflexia"	"58y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319057"	"04167"	"00428121"	"00006"	"Unknown"	"74y"	"cerebellar ataxia, bilateral vestibulopathy, hyper-reflexia and parkinsonism; upper limb ataxia (HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; autonomic nervous system dysfunction (HP:0002270) on anti-hypertensive medication; MRI brain no atrophy; lower limb hyper-reflexia, parkinsonism"	"70y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319058"	"04167"	"00428122"	"00006"	"Unknown"	"70y"	"cerebellar ataxia; no upper limb ataxia (-HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); no hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain no atrophy; no extracerebellar features"	"69y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319059"	"04167"	"00428123"	"00006"	"Unknown"	"73y"	"cerebellar ataxia, bilateral vestibulopathy, autonomic nervous system and cough; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; autonomic nervous system dysfunction (HP:0002270); MRI brain superior and posterior vermal, mild hemispheric atrophy; chronic cough"	"62y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319060"	"04167"	"00428124"	"00006"	"Unknown"	"74y"	"cerebellar ataxia, bilateral vestibulopathy and clinical autonomic nervous system; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; MRI brain no atrophy; clinical autonomic nervous system dysfunction"	"59y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319061"	"04167"	"00428125"	"00006"	"Unknown"	"81y"	"cerebellar ataxia; no upper limb ataxia (-HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); no hypofunction on video head impulse test; MRI brain no atrophy; no extracerebellar features"	"77y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319062"	"04167"	"00428126"	"00006"	"Unknown"	"73y"	"cerebellar ataxia, bilateral vestibulopathy; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; MRI brain no atrophy; no extracerebellar features"	"67y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319063"	"04167"	"00428127"	"00006"	"Unknown"	"71y"	"cerebellar ataxia, bilateral vestibulopathy and spasticity; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain cerebellar atrophy, primarily, superior vermis; spasticity"	""	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319064"	"04167"	"00428128"	"00006"	"Unknown"	"51y"	"cerebellar ataxia, bilateral vestibulopathy; no upper limb ataxia (-HP:0001251); no lower limb ataxia (-HP:0001251); no gait ataxia (-HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain no atrophy; no extracerebellar features"	"46y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319065"	"04167"	"00428129"	"00006"	"Unknown"	"56y"	"cerebellar ataxia; no upper limb ataxia (-HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); no hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain no atrophy; no extracerebellar features"	"54y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319066"	"04167"	"00428130"	"00006"	"Unknown"	"64y"	"cerebellar ataxia, bilateral vestibulopathy; no upper limb ataxia (-HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; no extracerebellar features"	"60y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319067"	"04167"	"00428131"	"00006"	"Unknown"	"85y"	"cerebellar ataxia, unilateral vestibulopathy; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no cerebellar dysarthria (-HP:0001260); unilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; no extracerebellar features"	"60y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319068"	"04167"	"00428132"	"00006"	"Unknown"	"46y"	"cerebellar ataxia, spasticity; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); cerebellar dysarthria (HP:0001260); MRI brain frontal atrophy; spasticity"	"<41y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319069"	"04167"	"00428133"	"00006"	"Unknown"	"70y"	"cerebellar ataxia, bilateral vestibulopathy; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain moderate global atrophy, predominantly cerebellar; no extracerebellar features"	"63y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319070"	"04167"	"00428134"	"00006"	"Unknown"	"75y"	"cerebellar ataxia and clinical autonomic nervous system; no upper limb ataxia (-HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); MRI brain no atrophy; clinical autonomic nervous system dysfunction"	"54y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319071"	"04167"	"00428135"	"00006"	"Unknown"	""	"cerebellar ataxia; gait ataxia (HP:0002066);"	""	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319072"	"04167"	"00428136"	"00006"	"Unknown"	"75y"	"cerebellar ataxia, bilateral vestibulopathy and clinical autonomic nervous system; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); no oculomotor abnormalities (-HP:0000496); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; MRI brain no atrophy; clinical autonomic nervous system dysfunction"	"70y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319073"	"04167"	"00428137"	"00006"	"Unknown"	"84y"	"cerebellar ataxia, bilateral vestibulopathy and clinical autonomic nervous system; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; MRI brain no atrophy; clinical autonomic nervous system dysfunction"	"74y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319074"	"04167"	"00428138"	"00006"	"Unknown"	"81y"	"cerebellar ataxia, bilateral vestibulopathy, neuropathy; upper limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; sensory neuropathy"	"60y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319075"	"04167"	"00428139"	"00006"	"Unknown"	"76y"	"cerebellar ataxia, bilateral vestibulopathy and clinical autonomic nervous system; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain global brain and cerebellar atrophy; clinical autonomic nervous system dysfunction"	"74y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319076"	"04167"	"00428140"	"00006"	"Unknown"	"77y"	"cerebellar ataxia, bilateral vestibulopathy; no upper limb ataxia (-HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain global brain atrophy; no extracerebellar features"	"75y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000319077"	"04167"	"00428141"	"00006"	"Unknown"	"83y"	"cerebellar ataxia; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); no cerebellar dysarthria (-HP:0001260); no hypofunction on video head impulse test; MRI brain global brain and cerebellar atrophy; no extracerebellar features"	"76y"	""	""	""	""	""	""	""	""	"ataxia"	""
"0000337076"	"04167"	"00447884"	"00006"	"Unknown"	"06y04m"	"delayed motor development, delayed language skills; 1y-vertical nystagmus, upper limb tremor; 2y-severe ataxia, inability to walk/sit unaided, triggered by febrile illness, regained previous neurological status after 1w, episodes recurred twice a year; 6.3y-nystagmus, discrete upper limb postural/action tremor, coordination difficulties, mild learning difficulties, benefited from language rehabilitation; very smiley, communicative with peers"	""	""	""	""	""	""	""	""	"SCA27A"	"ataxia"	""
"0000337077"	"04167"	"00447885"	"00006"	"Familial, autosomal dominant"	"5y"	"see paper; ..., acute episodes of ataxia; 2y-onset febrile seizures (2-7d); vertigo, ataxia, nausea, vomiting, occacional confusion; permanent symptoms; no tremor; 2y-nystagmus; no permanent ataxia; no learning difficulties; normal psychomotor development"	""	""	""	""	""	""	""	""	"SCA27A"	"ataxia"	""
"0000337078"	"04167"	"00447886"	"00006"	"Familial, autosomal dominant"	"37y"	"see paper; ..., acute episodes of ataxia; 8y-onset febrile seizures (7d); dizziness, ataxia; permanent symptoms; upper limb postural tremor (from childhood); nystagmus (infancy); no permanent ataxia; no learning difficulties; normal psychomotor development"	""	""	""	""	""	""	""	""	"SCA27A"	"ataxia"	""
"0000337079"	"04167"	"00447887"	"00006"	"Familial, autosomal dominant"	"6y6m"	"see paper; ..., acute episodes of ataxia; 2y10m-onset febrile seizures; ataxia; permanent symptoms; no tremor; no nystagmus; no permanent ataxia; learning difficulties; speech delay"	""	""	""	""	""	""	""	""	"SCA27A"	"ataxia"	""
"0000337080"	"04167"	"00447888"	"00006"	"Familial, autosomal dominant"	"6y6m"	"see paper; ..., no acute episodes of ataxia; 3m-two access of breath holding spell; between 2.8-5.5y daily access of gait unsteadiness with bizarre posture left limb lasting several hours; permanent symptoms; upper limb postural tremor (from childhood); no nystagmus; no permanent ataxia; learning difficulties; speech delay"	""	""	""	""	""	""	""	""	"SCA27A"	"ataxia"	""
"0000337081"	"04167"	"00447889"	"00006"	"Familial, autosomal dominant"	"45y"	"see paper; ..., no acute episodes of ataxia; permanent symptoms; upper limb postural tremor (from childhood); nystagmus; no permanent ataxia; learning difficulties; speech delay"	""	""	""	""	""	""	""	""	"SCA27A"	"ataxia"	""
"0000337082"	"04167"	"00447890"	"00006"	"Familial, autosomal dominant"	"3y"	"see paper; ..., no acute episodes of ataxia; permanent symptoms; 2y6m-upper limb postural tremor; nystagmus (infancy); no permanent ataxia; no learning difficulties; normal psychomotor development"	""	""	""	""	""	""	""	""	"SCA27A"	"ataxia"	""
"0000337083"	"04167"	"00447891"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., no acute episodes of ataxia; from 7m-9m brief episodes of lower limb hypertonia lasting some minutes; permanent symptoms; upper limb postural tremor (from childhood); no nystagmus; no permanent ataxia"	""	""	""	""	""	""	""	""	"SCA27A"	"ataxia"	""


## Screenings ## Do not remove or alter this header ##
## Count = 89
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000429490"	"00428078"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429491"	"00428079"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429492"	"00428080"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429493"	"00428081"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429494"	"00428082"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429495"	"00428083"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429496"	"00428084"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429497"	"00428085"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429498"	"00428086"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429499"	"00428087"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429500"	"00428088"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429501"	"00428089"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429502"	"00428090"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429503"	"00428091"	"1"	"00006"	"00006"	"2022-12-21 14:12:23"	""	""	"SEQ"	"DNA"	""	""
"0000429504"	"00428092"	"1"	"00006"	"00006"	"2022-12-21 14:34:48"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000429505"	"00428093"	"1"	"00006"	"00006"	"2022-12-21 14:34:48"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000429506"	"00428094"	"1"	"00006"	"00006"	"2022-12-21 14:34:48"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000429507"	"00428095"	"1"	"00006"	"00006"	"2022-12-21 14:34:48"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000429508"	"00428096"	"1"	"00006"	"00006"	"2022-12-21 14:34:48"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000429509"	"00428097"	"1"	"00006"	"00006"	"2022-12-21 14:34:48"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000429510"	"00428098"	"1"	"00006"	"00006"	"2022-12-21 14:34:48"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000429511"	"00428099"	"1"	"00006"	"00006"	"2022-12-21 14:34:48"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000429512"	"00428100"	"1"	"00006"	"00006"	"2022-12-21 14:34:48"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000429513"	"00428101"	"1"	"00006"	"00006"	"2022-12-21 16:23:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES after candidate genes"
"0000429514"	"00428102"	"1"	"00006"	"00006"	"2022-12-21 16:34:03"	""	""	"SEQ"	"DNA"	""	"WES"
"0000429515"	"00428103"	"1"	"00006"	"00006"	"2022-12-21 16:41:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000429516"	"00428104"	"1"	"00006"	"00006"	"2022-12-21 16:45:40"	""	""	"SEQ"	"DNA"	""	""
"0000429517"	"00428105"	"1"	"00006"	"00006"	"2022-12-21 16:53:07"	""	""	"microscope;PCR;SEQ"	"DNA"	""	""
"0000429518"	"00428106"	"1"	"00006"	"00006"	"2022-12-21 16:53:07"	""	""	"microscope;PCR;SEQ"	"DNA"	""	""
"0000429519"	"00428107"	"1"	"00006"	"00006"	"2022-12-21 17:39:11"	""	""	"FISH;microscope"	"DNA"	""	""
"0000429520"	"00428108"	"1"	"00006"	"00006"	"2022-12-21 18:09:19"	""	""	"arraySNP"	"DNA"	""	""
"0000429521"	"00428109"	"1"	"00006"	"00006"	"2022-12-21 18:09:19"	""	""	"arraySNP"	"DNA"	""	""
"0000429522"	"00428110"	"1"	"00006"	"00006"	"2022-12-21 18:09:19"	""	""	"arraySNP"	"DNA"	""	""
"0000429523"	"00428111"	"1"	"00006"	"00006"	"2022-12-21 19:43:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429526"	"00428114"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429527"	"00428115"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429528"	"00428116"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429529"	"00428117"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429530"	"00428118"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429531"	"00428119"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429532"	"00428120"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429533"	"00428121"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429534"	"00428122"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429535"	"00428123"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429536"	"00428124"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429537"	"00428125"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429538"	"00428126"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429539"	"00428127"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429540"	"00428128"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429541"	"00428129"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429542"	"00428130"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429543"	"00428131"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429544"	"00428132"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429545"	"00428133"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429546"	"00428134"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429547"	"00428135"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429548"	"00428136"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429549"	"00428137"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429550"	"00428138"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429551"	"00428139"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429552"	"00428140"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429553"	"00428141"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429554"	"00428142"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429555"	"00428143"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429556"	"00428144"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429557"	"00428145"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429558"	"00428146"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429559"	"00428147"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429560"	"00428148"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429561"	"00428149"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429562"	"00428150"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429563"	"00428151"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429564"	"00428152"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429565"	"00428153"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429566"	"00428154"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429567"	"00428155"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429568"	"00428156"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429569"	"00428157"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000429570"	"00428158"	"1"	"00006"	"00006"	"2022-12-22 12:23:36"	""	""	"PCRlr;PCRrp;SEQ-ON"	"DNA"	""	""
"0000449455"	"00447884"	"1"	"00006"	"00006"	"2024-01-31 09:12:31"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000449456"	"00447885"	"1"	"00006"	"00006"	"2024-01-31 10:24:49"	""	""	"SEQ"	"DNA"	""	""
"0000449457"	"00447886"	"1"	"00006"	"00006"	"2024-01-31 10:24:49"	""	""	"SEQ"	"DNA"	""	""
"0000449458"	"00447887"	"1"	"00006"	"00006"	"2024-01-31 10:24:49"	""	""	"SEQ"	"DNA"	""	""
"0000449459"	"00447888"	"1"	"00006"	"00006"	"2024-01-31 10:24:49"	""	""	"SEQ"	"DNA"	""	""
"0000449460"	"00447889"	"1"	"00006"	"00006"	"2024-01-31 10:24:49"	""	""	"SEQ"	"DNA"	""	""
"0000449461"	"00447890"	"1"	"00006"	"00006"	"2024-01-31 10:24:49"	""	""	"SEQ"	"DNA"	""	""
"0000449462"	"00447891"	"1"	"00006"	"00006"	"2024-01-31 10:24:49"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 80
"{{screeningid}}"	"{{geneid}}"
"0000429490"	"FGF14"
"0000429491"	"FGF14"
"0000429492"	"FGF14"
"0000429493"	"FGF14"
"0000429494"	"FGF14"
"0000429495"	"FGF14"
"0000429496"	"FGF14"
"0000429497"	"FGF14"
"0000429498"	"FGF14"
"0000429499"	"FGF14"
"0000429500"	"FGF14"
"0000429501"	"FGF14"
"0000429502"	"FGF14"
"0000429503"	"FGF14"
"0000429504"	"FGF14"
"0000429505"	"FGF14"
"0000429506"	"FGF14"
"0000429507"	"FGF14"
"0000429508"	"FGF14"
"0000429509"	"FGF14"
"0000429510"	"FGF14"
"0000429511"	"FGF14"
"0000429512"	"FGF14"
"0000429514"	"FGF14"
"0000429516"	"FGF14"
"0000429517"	"FGF14"
"0000429518"	"FGF14"
"0000429526"	"FGF14"
"0000429527"	"FGF14"
"0000429528"	"FGF14"
"0000429529"	"FGF14"
"0000429530"	"FGF14"
"0000429531"	"FGF14"
"0000429532"	"FGF14"
"0000429533"	"FGF14"
"0000429534"	"FGF14"
"0000429535"	"FGF14"
"0000429536"	"FGF14"
"0000429537"	"FGF14"
"0000429538"	"FGF14"
"0000429539"	"FGF14"
"0000429540"	"FGF14"
"0000429541"	"FGF14"
"0000429542"	"FGF14"
"0000429543"	"FGF14"
"0000429544"	"FGF14"
"0000429545"	"FGF14"
"0000429546"	"FGF14"
"0000429547"	"FGF14"
"0000429548"	"FGF14"
"0000429549"	"FGF14"
"0000429550"	"FGF14"
"0000429551"	"FGF14"
"0000429552"	"FGF14"
"0000429553"	"FGF14"
"0000429554"	"FGF14"
"0000429555"	"FGF14"
"0000429556"	"FGF14"
"0000429557"	"FGF14"
"0000429558"	"FGF14"
"0000429559"	"FGF14"
"0000429560"	"FGF14"
"0000429561"	"FGF14"
"0000429562"	"FGF14"
"0000429563"	"FGF14"
"0000429564"	"FGF14"
"0000429565"	"FGF14"
"0000429566"	"FGF14"
"0000429567"	"FGF14"
"0000429568"	"FGF14"
"0000429569"	"FGF14"
"0000429570"	"FGF14"
"0000449455"	"FGF14"
"0000449456"	"FGF14"
"0000449457"	"FGF14"
"0000449458"	"FGF14"
"0000449459"	"FGF14"
"0000449460"	"FGF14"
"0000449461"	"FGF14"
"0000449462"	"FGF14"


## 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 = 178
"{{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}}"
"0000002595"	"0"	"50"	"13"	"102915455"	"102915455"	"del"	"0"	"00037"	"chr13_000188"	"g.102915455del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.102263105del"	""	"VUS"	""
"0000005336"	"3"	"50"	"13"	"102454123"	"102454123"	"subst"	"0"	"00037"	"FGF14_000006"	"g.102454123G>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101801773G>T"	""	"VUS"	""
"0000005337"	"3"	"50"	"13"	"102454467"	"102454467"	"subst"	"0"	"00037"	"FGF14_000008"	"g.102454467G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101802117G>A"	""	"VUS"	""
"0000005338"	"3"	"50"	"13"	"102454658"	"102454658"	"subst"	"0"	"00037"	"FGF14_000010"	"g.102454658T>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101802308T>G"	""	"VUS"	""
"0000005339"	"0"	"50"	"13"	"102454792"	"102454792"	"subst"	"0"	"00037"	"FGF14_000012"	"g.102454792G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101802442G>A"	""	"VUS"	""
"0000005340"	"0"	"50"	"13"	"102454792"	"102454792"	"subst"	"0"	"00037"	"FGF14_000013"	"g.102454792G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101802442G>C"	""	"VUS"	""
"0000005341"	"3"	"50"	"13"	"102454883"	"102454883"	"subst"	"0"	"00037"	"FGF14_000001"	"g.102454883C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101802533C>T"	""	"VUS"	""
"0000005342"	"3"	"50"	"13"	"102938580"	"102938580"	"subst"	"0"	"00037"	"chr13_000153"	"g.102938580A>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.102286230A>C"	""	"VUS"	""
"0000010603"	"0"	"50"	"13"	"102455478"	"102455478"	"del"	"0"	"00037"	"FGF14_000015"	"g.102455478del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101803128del"	""	"VUS"	""
"0000013280"	"3"	"50"	"13"	"102454123"	"102454123"	"subst"	"0"	"00037"	"FGF14_000006"	"g.102454123G>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101801773G>T"	""	"VUS"	""
"0000013281"	"0"	"50"	"13"	"102454467"	"102454467"	"subst"	"0"	"00037"	"FGF14_000008"	"g.102454467G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101802117G>A"	""	"VUS"	""
"0000013282"	"3"	"50"	"13"	"102454658"	"102454658"	"subst"	"0"	"00037"	"FGF14_000010"	"g.102454658T>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101802308T>G"	""	"VUS"	""
"0000013283"	"0"	"50"	"13"	"102454792"	"102454792"	"subst"	"0"	"00037"	"FGF14_000012"	"g.102454792G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101802442G>A"	""	"VUS"	""
"0000013284"	"3"	"50"	"13"	"102454883"	"102454883"	"subst"	"0"	"00037"	"FGF14_000001"	"g.102454883C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101802533C>T"	""	"VUS"	""
"0000013285"	"0"	"50"	"13"	"102455306"	"102455306"	"subst"	"0"	"00037"	"FGF14_000003"	"g.102455306A>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101802956A>C"	""	"VUS"	""
"0000013286"	"0"	"50"	"13"	"102455607"	"102455607"	"subst"	"0"	"00037"	"FGF14_000005"	"g.102455607C>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.101803257C>A"	""	"VUS"	""
"0000253465"	"0"	"10"	"13"	"102379088"	"102379088"	"subst"	"0.00326521"	"01943"	"FGF14_000023"	"g.102379088A>G"	""	""	""	"FGF14(NM_175929.2):c.496T>C (p.L166=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101726738A>G"	""	"benign"	""
"0000254761"	"0"	"30"	"13"	"102521099"	"102521099"	"subst"	"0.000268103"	"01943"	"FGF14_000018"	"g.102521099A>G"	""	""	""	"FGF14(NM_175929.2):c.399T>C (p.N133=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101868749A>G"	""	"likely benign"	""
"0000255444"	"0"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"01943"	"FGF14_000017"	"g.102379135A>G"	""	""	""	"FGF14(NM_175929.2):c.449T>C (p.F150S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic"	""
"0000255696"	"0"	"90"	"13"	"102527534"	"102527534"	"subst"	"0"	"01943"	"FGF14_000019"	"g.102527534A>G"	""	""	""	"FGF14(NM_175929.2):c.319+2T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101875184A>G"	""	"pathogenic"	""
"0000256297"	"0"	"50"	"13"	"102521103"	"102521103"	"subst"	"0"	"01943"	"FGF14_000024"	"g.102521103A>T"	""	""	""	"FGF14(NM_175929.2):c.395T>A (p.M132K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101868753A>T"	""	"VUS"	""
"0000283919"	"0"	"10"	"13"	"102375232"	"102375232"	"subst"	"0.0106441"	"02326"	"FGF14_000016"	"g.102375232C>T"	""	""	""	"FGF14(NM_175929.2):c.708G>A (p.A236=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101722882C>T"	""	"benign"	""
"0000287380"	"0"	"30"	"13"	"102568873"	"102568873"	"subst"	"0.000338726"	"01943"	"FGF14_000021"	"g.102568873G>A"	""	""	""	"FGF14(NM_004115.3):c.123C>T (p.N41=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101916523G>A"	""	"likely benign"	""
"0000287381"	"0"	"50"	"13"	"102568843"	"102568843"	"subst"	"6.11362E-5"	"01943"	"FGF14_000020"	"g.102568843C>T"	""	""	""	"FGF14(NM_004115.3):c.153G>A (p.V51=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101916493C>T"	""	"VUS"	""
"0000287382"	"0"	"10"	"13"	"102375232"	"102375232"	"subst"	"0.0106441"	"01943"	"FGF14_000016"	"g.102375232C>T"	""	""	""	"FGF14(NM_175929.2):c.708G>A (p.A236=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101722882C>T"	""	"benign"	""
"0000549683"	"0"	"30"	"13"	"102375289"	"102375289"	"subst"	"0.00130164"	"01943"	"FGF14_000025"	"g.102375289A>G"	""	""	""	"FGF14(NM_001321949.1):c.384T>C (p.H128=), FGF14(NM_175929.2):c.651T>C (p.H217=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101722939A>G"	""	"likely benign"	""
"0000549684"	"0"	"30"	"13"	"102375289"	"102375289"	"subst"	"0.00130164"	"02326"	"FGF14_000025"	"g.102375289A>G"	""	""	""	"FGF14(NM_001321949.1):c.384T>C (p.H128=), FGF14(NM_175929.2):c.651T>C (p.H217=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101722939A>G"	""	"likely benign"	""
"0000549685"	"0"	"50"	"13"	"102527562"	"102527562"	"subst"	"0"	"02327"	"FGF14_000026"	"g.102527562C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101875212C>T"	""	"VUS"	""
"0000549686"	"0"	"30"	"13"	"102568918"	"102568918"	"subst"	"0.000256905"	"01943"	"FGF14_000027"	"g.102568918G>A"	""	""	""	"FGF14(NM_004115.3):c.78C>T (p.A26=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101916568G>A"	""	"likely benign"	""
"0000549687"	"0"	"30"	"13"	"103054002"	"103054002"	"subst"	"8.12354E-6"	"02327"	"FGF14_000028"	"g.103054002C>G"	""	""	""	"FGF14(NM_001321939.1):c.27G>C (p.R9S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.102401652C>G"	""	"likely benign"	""
"0000549688"	"0"	"30"	"13"	"103054004"	"103054004"	"subst"	"0"	"01804"	"FGF14_000029"	"g.103054004T>C"	""	""	""	"FGF14(NM_175929.2):c.25A>G (p.(Arg9Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.102401654T>C"	""	"likely benign"	""
"0000691461"	"0"	"50"	"13"	"102521148"	"102521148"	"subst"	"0"	"02325"	"FGF14_000030"	"g.102521148C>T"	""	""	""	"FGF14(NM_004115.4):c.335G>A (p.R112H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724324"	"0"	"50"	"13"	"102521103"	"102521103"	"subst"	"0"	"02327"	"FGF14_000024"	"g.102521103A>T"	""	""	""	"FGF14(NM_175929.2):c.395T>A (p.M132K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805994"	"0"	"50"	"13"	"103054002"	"103054002"	"subst"	"8.12354E-6"	"01943"	"FGF14_000028"	"g.103054002C>G"	""	""	""	"FGF14(NM_001321939.1):c.27G>C (p.R9S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000890858"	"0"	"30"	"13"	"102568918"	"102568918"	"subst"	"0.000256905"	"02326"	"FGF14_000027"	"g.102568918G>A"	""	""	""	"FGF14(NM_004115.3):c.78C>T (p.A26=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000909005"	"1"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909006"	"1"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909007"	"1"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909008"	"1"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909009"	"1"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909010"	"11"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909011"	"11"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909012"	"11"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909013"	"11"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909014"	"11"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909015"	"11"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909016"	"21"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909017"	"21"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909018"	"21"	"90"	"13"	"102379135"	"102379135"	"subst"	"0"	"00006"	"FGF14_000017"	"g.102379135A>G"	""	"{PMID:Van Swieten 2003:12489043}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726785A>G"	""	"pathogenic (dominant)"	""
"0000909019"	"10"	"90"	"13"	"102379082"	"102379082"	"del"	"0"	"00006"	"FGF14_000043"	"g.102379082del"	"1/416 case chromosomes"	"{PMID:Dalski 2005:15470364}"	""	"487delA"	"not in 208 controls"	"Germline"	""	""	"0"	""	""	"g.101726732del"	""	"pathogenic (dominant)"	""
"0000909020"	"0"	"30"	"13"	"102568873"	"102568873"	"subst"	"0.000338726"	"00006"	"FGF14_000021"	"g.102568873G>A"	"1/416 case chromosomes"	"{PMID:Dalski 2005:15470364}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101916523G>A"	""	"likely benign"	""
"0000909021"	"0"	"30"	"13"	"102568873"	"102568873"	"subst"	"0.000338726"	"00006"	"FGF14_000021"	"g.102568873G>A"	"2/416 control chromosomes"	"{PMID:Dalski 2005:15470364}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101916523G>A"	""	"likely benign"	""
"0000909022"	"0"	"30"	"13"	"102568872"	"102568872"	"subst"	"0.00115095"	"00006"	"FGF14_000044"	"g.102568872C>A"	"3/416 case chromosomes"	"{PMID:Dalski 2005:15470364}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101916522C>A"	""	"likely benign"	""
"0000909023"	"0"	"30"	"13"	"102568872"	"102568872"	"subst"	"0.00115095"	"00006"	"FGF14_000044"	"g.102568872C>A"	"1/416 control chromosomes"	"{PMID:Dalski 2005:15470364}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101916522C>A"	""	"likely benign"	""
"0000909024"	"0"	"30"	"13"	"102379026"	"102379026"	"subst"	"2.44099E-5"	"00006"	"FGF14_000042"	"g.102379026A>G"	"2/416 case chromosomes"	"{PMID:Dalski 2005:15470364}"	""	""	"not in 208 controls"	"Germline"	""	""	"0"	""	""	"g.101726676A>G"	""	"likely benign"	""
"0000909025"	"0"	"30"	"13"	"102375232"	"102375232"	"subst"	"4.88261E-5"	"00006"	"FGF14_000041"	"g.102375232C>A"	"2/416 case chromosomes"	"{PMID:Dalski 2005:15470364}"	""	""	"not in 208 controls"	"Germline"	""	""	"0"	""	""	"g.101722882C>A"	""	"likely benign"	""
"0000909026"	"0"	"30"	"13"	"102375150"	"102375150"	"subst"	"0.00967595"	"00006"	"FGF14_000040"	"g.102375150C>T"	"8/416 case chromosomes"	"{PMID:Dalski 2005:15470364}"	""	"775G>A"	""	"Germline"	""	""	"0"	""	""	"g.101722800C>T"	""	"likely benign"	""
"0000909027"	"0"	"30"	"13"	"102375150"	"102375150"	"subst"	"0.00967595"	"00006"	"FGF14_000040"	"g.102375150C>T"	"2/416 control chromosomes"	"{PMID:Dalski 2005:15470364}"	""	"775G>A"	""	"Germline"	""	""	"0"	""	""	"g.101722800C>T"	""	"likely benign"	""
"0000909029"	"10"	"90"	"13"	"102379040"	"102379040"	"subst"	"0"	"00006"	"FGF14_000031"	"g.102379040T>A"	""	"{PMID:Miura 2019:30017992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726690T>A"	""	"pathogenic (dominant)"	""
"0000909030"	"0"	"90"	"13"	"102527629"	"102527629"	"dup"	"0"	"00006"	"FGF14_000032"	"g.102527629dup"	""	"{PMID:Choquet 2015:25566820}"	""	"c.211_212insA"	""	"Germline/De novo (untested)"	"yes"	""	"0"	""	""	"g.101875279dup"	""	"pathogenic (dominant)"	""
"0000909031"	"21"	"90"	"13"	"102527629"	"102527629"	"dup"	"0"	"00006"	"FGF14_000032"	"g.102527629dup"	""	"{PMID:Choquet 2015:25566820}"	""	"211_212insA"	""	"Germline"	"yes"	""	"0"	""	""	"g.101875279dup"	""	"pathogenic (dominant)"	""
"0000909032"	"21"	"90"	"13"	"102527629"	"102527629"	"dup"	"0"	"00006"	"FGF14_000032"	"g.102527629dup"	""	"{PMID:Choquet 2015:25566820}"	""	"211_212insA"	""	"Germline"	"yes"	""	"0"	""	""	"g.101875279dup"	""	"pathogenic (dominant)"	""
"0000909033"	"21"	"90"	"13"	"0"	"0"	""	"0"	"00006"	"FGF14_000033"	"g.102882615_qterdelins[NC_000005.9:g.138908452_qter]"	""	"{PMID:Misceo 2009:19471976}"	""	""	""	"Germline"	"yes"	""	"0"	""	"46,XX t(5;13)(q31.2;q33.1)"	""	""	"pathogenic (dominant)"	""
"0000909034"	"21"	"90"	"13"	"0"	"0"	";"	"0"	"00006"	"FGF14_000034"	"g.[NC_000005.9:g.138908452_qter]delins[T;102882615_qter]"	""	"{PMID:Misceo 2009:19471976}"	""	"46,XX t(5;13)(q31.2;q33.1)"	""	"DUPLICATE record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000909037"	"21"	"90"	"13"	"0"	"0"	""	"0"	"00006"	"FGF14_000033"	"g.102882615_qterdelins[NC_000005.9:g.138908452_qter]"	""	"{PMID:Misceo 2009:19471976}"	""	""	""	"Germline"	"yes"	""	"0"	""	"46,XX t(5;13)(q31.2;q33.1)"	""	""	"pathogenic (dominant)"	""
"0000909038"	"21"	"90"	"13"	"0"	"0"	";"	"0"	"00006"	"FGF14_000034"	"g.[NC_000005.9:g.138908452_qter]delins[T;102882615_qter]"	""	"{PMID:Misceo 2009:19471976}"	""	"46,XX t(5;13)(q31.2;q33.1)"	""	"DUPLICATE record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000909041"	"0"	"90"	"13"	"0"	"0"	""	"0"	"00006"	"FGF14_000035"	"g.(102944908_102954503)_qterdelins[NC_000021.8:g.(47566752_47758267)_qter]"	""	"{PMID:Shimojima 2012:21600715}"	""	"hg18? chr13:101742909-101752504, chr21:46391180_46582695"	""	"De novo"	""	""	"0"	""	"46,XY, t(13;21)(q32;q22.3)"	""	""	"pathogenic (dominant)"	""
"0000909044"	"0"	"90"	"13"	"0"	"0"	""	"0"	"00006"	"FGF14_000036"	"g.[NC_000021.8:g.(47566752_47758267)_qter]delins(102944908_102954503)_qter"	""	"{PMID:Shimojima 2012:21600715}"	""	"hg18? chr13:101742909-101752504, chr21:46391180_46582695"	""	"DUPLICATE record"	""	""	"0"	""	"46,XY, t(13;21)(q32;q22.3)"	""	""	"pathogenic (dominant)"	""
"0000909045"	"21"	"90"	"13"	"102334036"	"102344934"	"del"	"0"	"00006"	"FGF14_000037"	"g.(102250650_102344934)_(102334036_102535807)del"	""	"{PMID:Coebergh 2014:24252256}"	""	"chr13 102334036-102535807del"	"202 kb deletion"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000909046"	"21"	"90"	"13"	"102334036"	"102344934"	"del"	"0"	"00006"	"FGF14_000037"	"g.(102250650_102344934)_(102334036_102535807)del"	""	"{PMID:Coebergh 2014:24252256}"	""	"chr13 102334036-102535807del"	"202 kb deletion"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000909047"	"21"	"90"	"13"	"102334036"	"102344934"	"del"	"0"	"00006"	"FGF14_000037"	"g.(102250650_102344934)_(102334036_102535807)del"	""	"{PMID:Coebergh 2014:24252256}"	""	"chr13 102334036-102535807del"	"202 kb deletion"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000909048"	"0"	"70"	"13"	"103053998"	"103053998"	"subst"	"0"	"00006"	"FGF14_000038"	"g.103053998T>C"	""	"{PMID:Choi 2017:29062094}"	""	"NM_175929.2:c.31A>G (Thr11Ala)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.102401648T>C"	""	"likely pathogenic (dominant)"	""
"0000909052"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000045"	"g.102813927_102814076GAA[450]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[450]"	""	"pathogenic (dominant)"	""
"0000909053"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000046"	"g.102813927_102814076GAA[400]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[400]"	""	"pathogenic (dominant)"	""
"0000909054"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000046"	"g.102813927_102814076GAA[400]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[400]"	""	"pathogenic (dominant)"	""
"0000909055"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000047"	"g.102813927_102814076GAA[349]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[349]"	""	"pathogenic (dominant)"	""
"0000909056"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000039"	"g.102813927_102814076GAA[315]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[315]"	""	"pathogenic (!)"	""
"0000909057"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000048"	"g.102813927_102814076GAA[316]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[316]"	""	"pathogenic (!)"	""
"0000909058"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000049"	"g.102813927_102814076GAA[311]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[311]"	""	"pathogenic (!)"	""
"0000909059"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000050"	"g.102813927_102814076GAA[313]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[313]"	""	"pathogenic (!)"	""
"0000909060"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000051"	"g.102813927_102814076GAA[296]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[296]"	""	"pathogenic (!)"	""
"0000909061"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000052"	"g.102813927_102814076GAA[289]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[289]"	""	"pathogenic (!)"	""
"0000909062"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000053"	"g.102813927_102814076GAA[256]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[256]"	""	"pathogenic (!)"	""
"0000909063"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000054"	"g.102813927_102814076GAA[284]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[284]"	""	"pathogenic (!)"	""
"0000909064"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000055"	"g.102813927_102814076GAA[268]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[268]"	""	"pathogenic (!)"	""
"0000909065"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000056"	"g.102813927_102814076GAA[460]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[460]"	""	"pathogenic (dominant)"	""
"0000909066"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000057"	"g.102813927_102814076GAA[430]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[430]"	""	"pathogenic (dominant)"	""
"0000909067"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000057"	"g.102813927_102814076GAA[430]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[430]"	""	"pathogenic (dominant)"	""
"0000909068"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000057"	"g.102813927_102814076GAA[430]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[430]"	""	"pathogenic (dominant)"	""
"0000909069"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000046"	"g.102813927_102814076GAA[400]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[400]"	""	"pathogenic (dominant)"	""
"0000909070"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000058"	"g.102813927_102814076GAA[350]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[350]"	""	"pathogenic (dominant)"	""
"0000909071"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000058"	"g.102813927_102814076GAA[350]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[350]"	""	"pathogenic (dominant)"	""
"0000909072"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000059"	"g.102813927_102814076GAA[342]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[342]"	""	"pathogenic (dominant)"	""
"0000909073"	"21"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000039"	"g.102813927_102814076GAA[315]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance; maternal allele has expanded"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[315]"	""	"pathogenic (!)"	""
"0000909074"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000060"	"g.102813927_102814076GAA[312]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[312]"	""	"pathogenic (!)"	""
"0000909075"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000061"	"g.102813927_102814076GAA[290]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[290]"	""	"pathogenic (!)"	""
"0000909076"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000056"	"g.102813927_102814076GAA[460]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[460]"	""	"pathogenic (dominant)"	""
"0000909077"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000062"	"g.102813927_102814076GAA[270]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[270]"	""	"pathogenic (!)"	""
"0000909078"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000062"	"g.102813927_102814076GAA[270]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[270]"	""	"pathogenic (!)"	""
"0000909079"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000062"	"g.102813927_102814076GAA[270]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[270]"	""	"pathogenic (!)"	""
"0000909080"	"1"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000063"	"g.102813927_102814076GAAGGA[332]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAAGGA[332]"	""	"benign"	""
"0000909081"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000064"	"g.102813927_102814076GAA[300]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[300]"	""	"pathogenic (!)"	""
"0000909082"	"1"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000065"	"g.102813927_102814076GAAGGA[296]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAAGGA[296]"	""	"benign"	""
"0000909083"	"1"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000066"	"g.102813927_102814076GAAGGA[282]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAAGGA[282]"	""	"benign"	""
"0000909084"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000062"	"g.102813927_102814076GAA[270]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[270]"	""	"pathogenic (!)"	""
"0000909085"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000067"	"g.102813927_102814076GAA[332]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[332]"	""	"pathogenic (!)"	""
"0000909086"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000068"	"g.102813927_102814076GAA[330]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[330]"	""	"pathogenic (!)"	""
"0000909087"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000069"	"g.102813927_102814076GAA[329]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[329]"	""	"pathogenic (!)"	""
"0000909088"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000070"	"g.102813927_102814076GAA[328]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[328]"	""	"pathogenic (!)"	""
"0000909089"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000071"	"g.102813927_102814076GAA[325]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[325]"	""	"pathogenic (!)"	""
"0000909090"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000071"	"g.102813927_102814076GAA[325]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[325]"	""	"pathogenic (!)"	""
"0000909091"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000071"	"g.102813927_102814076GAA[325]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[325]"	""	"pathogenic (!)"	""
"0000909092"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000061"	"g.102813927_102814076GAA[290]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[290]"	""	"pathogenic (!)"	""
"0000909093"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000072"	"g.102813927_102814076GAA[282]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[282]"	""	"pathogenic (!)"	""
"0000909094"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000073"	"g.102813927_102814076GAA[257]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[257]"	""	"pathogenic (!)"	""
"0000909095"	"1"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000074"	"g.102813927_102814076GAA[115]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[115]"	""	"benign"	""
"0000909096"	"1"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000072"	"g.102813927_102814076GAA[282]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[282]"	""	"pathogenic (!)"	""
"0000909097"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000075"	"g.102813927_102814076GAA[170]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[170]"	""	"benign"	""
"0000909098"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909099"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000077"	"g.102813927_102814076GAA[74]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[74]"	""	"benign"	""
"0000909100"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000078"	"g.102813927_102814076GAA[13]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[13]"	""	"benign"	""
"0000909101"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909102"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000079"	"g.102813927_102814076GAA[58]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[58]"	""	"benign"	""
"0000909103"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000080"	"g.102813927_102814076GAA[57]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[57]"	""	"benign"	""
"0000909104"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000081"	"g.102813927_102814076GAA[12]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[12]"	""	"benign"	""
"0000909105"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909106"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000082"	"g.102813927_102814076GAA[185]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[185]"	""	"benign"	""
"0000909107"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000083"	"g.102813927_102814076GAA[14]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[14]"	""	"benign"	""
"0000909108"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000084"	"g.102813927_102814076GAA[20]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[20]"	""	"benign"	""
"0000909109"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000081"	"g.102813927_102814076GAA[12]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[12]"	""	"benign"	""
"0000909110"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000085"	"g.102813927_102814076GAA[28]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[28]"	""	"benign"	""
"0000909111"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000086"	"g.102813927_102814076GAA[29]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[29]"	""	"benign"	""
"0000909112"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000084"	"g.102813927_102814076GAA[20]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[20]"	""	"benign"	""
"0000909113"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909114"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000087"	"g.102813927_102814076GAA[54]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[54]"	""	"benign"	""
"0000909115"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909116"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000088"	"g.102813927_102814076GAA[87]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[87]"	""	"benign"	""
"0000909117"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909118"	"11"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000089"	"g.102813927_102814076GAA[25]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[25]"	""	"benign"	""
"0000909119"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000087"	"g.102813927_102814076GAA[54]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[54]"	""	"benign"	""
"0000909120"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909121"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000086"	"g.102813927_102814076GAA[29]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[29]"	""	"benign"	""
"0000909122"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909123"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000090"	"g.102813927_102814076GAA[59]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[59]"	""	"benign"	""
"0000909124"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909125"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000091"	"g.102813927_102814076GAA[65]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[65]"	""	"benign"	""
"0000909126"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000081"	"g.102813927_102814076GAA[12]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[12]"	""	"benign"	""
"0000909127"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000081"	"g.102813927_102814076GAA[12]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[12]"	""	"benign"	""
"0000909128"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000092"	"g.102813927_102814076GAA[22]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[22]"	""	"benign"	""
"0000909129"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000081"	"g.102813927_102814076GAA[12]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[12]"	""	"benign"	""
"0000909130"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000093"	"g.102813927_102814076GAA[49]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[49]"	""	"benign"	""
"0000909131"	"2"	"90"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000039"	"g.102813927_102814076GAA[315]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"reduced penetrance"	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[315]"	""	"pathogenic (!)"	""
"0000909132"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909133"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000087"	"g.102813927_102814076GAA[54]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[54]"	""	"benign"	""
"0000909134"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000094"	"g.102813927_102814076GAA[100]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[100]"	""	"benign"	""
"0000909135"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000095"	"g.102813927_102814076GAA[52]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[52]"	""	"benign"	""
"0000909136"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909137"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909138"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000096"	"g.102813927_102814076GAA[27]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[27]"	""	"benign"	""
"0000909139"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000076"	"g.102813927_102814076GAA[19]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[19]"	""	"benign"	""
"0000909140"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000089"	"g.102813927_102814076GAA[25]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[25]"	""	"benign"	""
"0000909141"	"2"	"10"	"13"	"102813927"	"102814076"	"repeat"	"0"	"00006"	"FGF14_000075"	"g.102813927_102814076GAA[170]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.102161577_102161726GAA[170]"	""	"benign"	""
"0000909142"	"0"	"90"	"13"	"0"	"0"	""	"0"	"00006"	"FGF14_000038"	"g.102813927_102814076GAA[(335_?)]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"allele >335 fully penetrant"	"SUMMARY record"	""	""	"0"	""	""	"g.102161577_102161726GAA[(335_?)]"	""	"pathogenic (dominant)"	""
"0000909143"	"1"	"90"	"13"	"0"	"0"	""	"0"	"00006"	"FGF14_000038"	"g.102813927_102814076GAA[(250-334)]"	""	"{PMID:Rafehi 2023:36493768}, {DOI:Rafehi 2023:10.1016/j.ajhg.2022.11.015}"	""	""	"allele >250 is pathogenic (dominant) with reduced penetrance"	"SUMMARY record"	""	""	"0"	""	""	"g.102161577_102161726GAA[(250-334)]"	""	"pathogenic (!)"	""
"0000959661"	"0"	"90"	"13"	"102379082"	"102379083"	"del"	"0"	"00006"	"FGF14_000097"	"g.102379082_102379083del"	""	"{PMID:Piarroux 2020:32162847}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101726733_101726734del"	""	"pathogenic (dominant)"	""
"0000959662"	"11"	"90"	"13"	"102379130"	"102379130"	"subst"	"0"	"00006"	"FGF14_000098"	"g.102379130C>A"	""	"{PMID:Piarroux 2020:32162847}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726780C>A"	""	"pathogenic (dominant)"	""
"0000959663"	"10"	"90"	"13"	"102379130"	"102379130"	"subst"	"0"	"00006"	"FGF14_000098"	"g.102379130C>A"	""	"{PMID:Piarroux 2020:32162847}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726780C>A"	""	"pathogenic (dominant)"	""
"0000959664"	"21"	"90"	"13"	"102379130"	"102379130"	"subst"	"0"	"00006"	"FGF14_000098"	"g.102379130C>A"	""	"{PMID:Piarroux 2020:32162847}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726780C>A"	""	"pathogenic (dominant)"	""
"0000959665"	"21"	"90"	"13"	"102379130"	"102379130"	"subst"	"0"	"00006"	"FGF14_000098"	"g.102379130C>A"	""	"{PMID:Piarroux 2020:32162847}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726780C>A"	""	"pathogenic (dominant)"	""
"0000959666"	"20"	"90"	"13"	"102379130"	"102379130"	"subst"	"0"	"00006"	"FGF14_000098"	"g.102379130C>A"	""	"{PMID:Piarroux 2020:32162847}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726780C>A"	""	"pathogenic (dominant)"	""
"0000959667"	"21"	"90"	"13"	"102379130"	"102379130"	"subst"	"0"	"00006"	"FGF14_000098"	"g.102379130C>A"	""	"{PMID:Piarroux 2020:32162847}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726780C>A"	""	"pathogenic (dominant)"	""
"0000959668"	"10"	"90"	"13"	"102379130"	"102379130"	"subst"	"0"	"00006"	"FGF14_000098"	"g.102379130C>A"	""	"{PMID:Piarroux 2020:32162847}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101726780C>A"	""	"pathogenic (dominant)"	""
"0001000400"	"0"	"50"	"13"	"102375254"	"102375254"	"subst"	"4.4861E-5"	"01804"	"FGF14_000099"	"g.102375254G>A"	""	""	""	"FGF14(NM_004115.3):c.671C>T (p.(Thr224Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000401"	"0"	"50"	"13"	"102527643"	"102527643"	"subst"	"4.07106E-5"	"01804"	"FGF14_000100"	"g.102527643G>T"	""	""	""	"FGF14(NM_004115.3):c.197C>A (p.(Pro66His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000402"	"0"	"30"	"13"	"102568908"	"102568908"	"subst"	"8.29071E-6"	"01804"	"FGF14_000101"	"g.102568908G>A"	""	""	""	"FGF14(NM_004115.3):c.88C>T (p.(Arg30Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039549"	"0"	"50"	"13"	"102480248"	"102480248"	"subst"	"0"	"01804"	"FGF14_000102"	"g.102480248T>C"	""	""	""	"FGF14(NM_001321937.2):c.448A>G (p.(Thr150Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039550"	"0"	"30"	"13"	"103018992"	"103018992"	"del"	"0"	"01804"	"FGF14_000103"	"g.103018992del"	""	""	""	"FGF14(NM_001321946.2):c.-228-6del"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001054709"	"0"	"50"	"13"	"102873044"	"102873044"	"subst"	"0"	"01804"	"FGF14_000104"	"g.102873044T>C"	""	""	""	"FGF14(NM_001321933.1):c.13+3A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes FGF14
## Count = 221
"{{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}}"
"0000002595"	"00025781"	"50"	"208"	"138366"	"208"	"138366"	"c.208+138366del"	"r.(=)"	"p.(=)"	""	""
"0000005336"	"00000945"	"50"	"408"	"66952"	"408"	"66952"	"c.408+66952C>A"	"r.(=)"	"p.(=)"	""	""
"0000005336"	"00025781"	"50"	"423"	"66952"	"423"	"66952"	"c.423+66952C>A"	"r.(=)"	"p.(=)"	""	""
"0000005337"	"00000945"	"50"	"408"	"66608"	"408"	"66608"	"c.408+66608C>T"	"r.(=)"	"p.(=)"	""	""
"0000005337"	"00025781"	"50"	"423"	"66608"	"423"	"66608"	"c.423+66608C>T"	"r.(=)"	"p.(=)"	""	""
"0000005338"	"00000945"	"50"	"408"	"66417"	"408"	"66417"	"c.408+66417A>C"	"r.(=)"	"p.(=)"	""	""
"0000005338"	"00025781"	"50"	"423"	"66417"	"423"	"66417"	"c.423+66417A>C"	"r.(=)"	"p.(=)"	""	""
"0000005339"	"00000945"	"50"	"408"	"66283"	"408"	"66283"	"c.408+66283C>T"	"r.(=)"	"p.(=)"	""	""
"0000005339"	"00025781"	"50"	"423"	"66283"	"423"	"66283"	"c.423+66283C>T"	"r.(=)"	"p.(=)"	""	""
"0000005340"	"00000945"	"50"	"408"	"66283"	"408"	"66283"	"c.408+66283C>G"	"r.(=)"	"p.(=)"	""	""
"0000005340"	"00025781"	"50"	"423"	"66283"	"423"	"66283"	"c.423+66283C>G"	"r.(=)"	"p.(=)"	""	""
"0000005341"	"00000945"	"50"	"408"	"66192"	"408"	"66192"	"c.408+66192G>A"	"r.(=)"	"p.(=)"	""	""
"0000005341"	"00025781"	"50"	"423"	"66192"	"423"	"66192"	"c.423+66192G>A"	"r.(=)"	"p.(=)"	""	""
"0000005342"	"00025781"	"50"	"208"	"115241"	"208"	"115241"	"c.208+115241T>G"	"r.(=)"	"p.(=)"	""	""
"0000010603"	"00000945"	"50"	"408"	"65597"	"408"	"65597"	"c.408+65597del"	"r.(=)"	"p.(=)"	""	""
"0000010603"	"00025781"	"50"	"423"	"65597"	"423"	"65597"	"c.423+65597del"	"r.(=)"	"p.(=)"	""	""
"0000013280"	"00000945"	"50"	"408"	"66952"	"408"	"66952"	"c.408+66952C>A"	"r.(=)"	"p.(=)"	""	""
"0000013280"	"00025781"	"50"	"423"	"66952"	"423"	"66952"	"c.423+66952C>A"	"r.(=)"	"p.(=)"	""	""
"0000013281"	"00000945"	"50"	"408"	"66608"	"408"	"66608"	"c.408+66608C>T"	"r.(=)"	"p.(=)"	""	""
"0000013281"	"00025781"	"50"	"423"	"66608"	"423"	"66608"	"c.423+66608C>T"	"r.(=)"	"p.(=)"	""	""
"0000013282"	"00000945"	"50"	"408"	"66417"	"408"	"66417"	"c.408+66417A>C"	"r.(=)"	"p.(=)"	""	""
"0000013282"	"00025781"	"50"	"423"	"66417"	"423"	"66417"	"c.423+66417A>C"	"r.(=)"	"p.(=)"	""	""
"0000013283"	"00000945"	"50"	"408"	"66283"	"408"	"66283"	"c.408+66283C>T"	"r.(=)"	"p.(=)"	""	""
"0000013283"	"00025781"	"50"	"423"	"66283"	"423"	"66283"	"c.423+66283C>T"	"r.(=)"	"p.(=)"	""	""
"0000013284"	"00000945"	"50"	"408"	"66192"	"408"	"66192"	"c.408+66192G>A"	"r.(=)"	"p.(=)"	""	""
"0000013284"	"00025781"	"50"	"423"	"66192"	"423"	"66192"	"c.423+66192G>A"	"r.(=)"	"p.(=)"	""	""
"0000013285"	"00000945"	"50"	"408"	"65769"	"408"	"65769"	"c.408+65769T>G"	"r.(=)"	"p.(=)"	""	""
"0000013285"	"00025781"	"50"	"423"	"65769"	"423"	"65769"	"c.423+65769T>G"	"r.(=)"	"p.(=)"	""	""
"0000013286"	"00000945"	"50"	"408"	"65468"	"408"	"65468"	"c.408+65468G>T"	"r.(=)"	"p.(=)"	""	""
"0000013286"	"00025781"	"50"	"423"	"65468"	"423"	"65468"	"c.423+65468G>T"	"r.(=)"	"p.(=)"	""	""
"0000253465"	"00000945"	"10"	"481"	"0"	"481"	"0"	"c.481T>C"	"r.(?)"	"p.(Leu161=)"	""	""
"0000253465"	"00025781"	"10"	"496"	"0"	"496"	"0"	"c.496T>C"	"r.(?)"	"p.(Leu166=)"	""	""
"0000254761"	"00000945"	"30"	"384"	"0"	"384"	"0"	"c.384T>C"	"r.(?)"	"p.(Asn128=)"	""	""
"0000254761"	"00025781"	"30"	"399"	"0"	"399"	"0"	"c.399T>C"	"r.(?)"	"p.(Asn133=)"	""	""
"0000255444"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000255444"	"00025781"	"90"	"449"	"0"	"449"	"0"	"c.449T>C"	"r.(?)"	"p.(Phe150Ser)"	""	""
"0000255696"	"00000945"	"90"	"304"	"2"	"304"	"2"	"c.304+2T>C"	"r.spl?"	"p.?"	""	""
"0000255696"	"00025781"	"90"	"319"	"2"	"319"	"2"	"c.319+2T>C"	"r.spl?"	"p.?"	""	""
"0000256297"	"00000945"	"50"	"380"	"0"	"380"	"0"	"c.380T>A"	"r.(?)"	"p.(Met127Lys)"	""	""
"0000256297"	"00025781"	"50"	"395"	"0"	"395"	"0"	"c.395T>A"	"r.(?)"	"p.(Met132Lys)"	""	""
"0000283919"	"00000945"	"10"	"693"	"0"	"693"	"0"	"c.693G>A"	"r.(?)"	"p.(Ala231=)"	""	""
"0000283919"	"00025781"	"10"	"708"	"0"	"708"	"0"	"c.708G>A"	"r.(?)"	"p.(Ala236=)"	""	""
"0000287380"	"00000945"	"30"	"123"	"0"	"123"	"0"	"c.123C>T"	"r.(?)"	"p.(Asn41=)"	""	""
"0000287380"	"00025781"	"30"	"209"	"-41227"	"209"	"-41227"	"c.209-41227C>T"	"r.(=)"	"p.(=)"	""	""
"0000287381"	"00000945"	"50"	"153"	"0"	"153"	"0"	"c.153G>A"	"r.(?)"	"p.(Val51=)"	""	""
"0000287381"	"00025781"	"50"	"209"	"-41197"	"209"	"-41197"	"c.209-41197G>A"	"r.(=)"	"p.(=)"	""	""
"0000287382"	"00000945"	"10"	"693"	"0"	"693"	"0"	"c.693G>A"	"r.(?)"	"p.(Ala231=)"	""	""
"0000287382"	"00025781"	"10"	"708"	"0"	"708"	"0"	"c.708G>A"	"r.(?)"	"p.(Ala236=)"	""	""
"0000549683"	"00000945"	"30"	"636"	"0"	"636"	"0"	"c.636T>C"	"r.(?)"	"p.(His212=)"	""	""
"0000549683"	"00025781"	"30"	"651"	"0"	"651"	"0"	"c.651T>C"	"r.(?)"	"p.(His217=)"	""	""
"0000549684"	"00000945"	"30"	"636"	"0"	"636"	"0"	"c.636T>C"	"r.(?)"	"p.(His212=)"	""	""
"0000549684"	"00025781"	"30"	"651"	"0"	"651"	"0"	"c.651T>C"	"r.(?)"	"p.(His217=)"	""	""
"0000549685"	"00000945"	"50"	"278"	"0"	"278"	"0"	"c.278G>A"	"r.(?)"	"p.(Gly93Glu)"	""	""
"0000549685"	"00025781"	"50"	"293"	"0"	"293"	"0"	"c.293G>A"	"r.(?)"	"p.(Gly98Glu)"	""	""
"0000549686"	"00000945"	"30"	"78"	"0"	"78"	"0"	"c.78C>T"	"r.(?)"	"p.(Ala26=)"	""	""
"0000549686"	"00025781"	"30"	"209"	"-41272"	"209"	"-41272"	"c.209-41272C>T"	"r.(=)"	"p.(=)"	""	""
"0000549687"	"00000945"	"30"	"-485007"	"0"	"-485007"	"0"	"c.-485007G>C"	"r.(?)"	"p.(=)"	""	""
"0000549687"	"00025781"	"30"	"27"	"0"	"27"	"0"	"c.27G>C"	"r.(?)"	"p.(Arg9Ser)"	""	""
"0000549688"	"00000945"	"30"	"-485009"	"0"	"-485009"	"0"	"c.-485009A>G"	"r.(?)"	"p.(=)"	""	""
"0000549688"	"00025781"	"30"	"25"	"0"	"25"	"0"	"c.25A>G"	"r.(?)"	"p.(Arg9Gly)"	""	""
"0000691461"	"00000945"	"50"	"335"	"0"	"335"	"0"	"c.335G>A"	"r.(?)"	"p.(Arg112His)"	""	""
"0000691461"	"00025781"	"50"	"350"	"0"	"350"	"0"	"c.350G>A"	"r.(?)"	"p.(Arg117His)"	""	""
"0000724324"	"00000945"	"50"	"380"	"0"	"380"	"0"	"c.380T>A"	"r.(?)"	"p.(Met127Lys)"	""	""
"0000724324"	"00025781"	"50"	"395"	"0"	"395"	"0"	"c.395T>A"	"r.(?)"	"p.(Met132Lys)"	""	""
"0000805994"	"00000945"	"50"	"-485007"	"0"	"-485007"	"0"	"c.-485007G>C"	"r.(?)"	"p.(=)"	""	""
"0000805994"	"00025781"	"50"	"27"	"0"	"27"	"0"	"c.27G>C"	"r.(?)"	"p.(Arg9Ser)"	""	""
"0000890858"	"00000945"	"30"	"78"	"0"	"78"	"0"	"c.78C>T"	"r.(?)"	"p.(Ala26=)"	""	""
"0000890858"	"00025781"	"30"	"209"	"-41272"	"209"	"-41272"	"c.209-41272C>T"	"r.(=)"	"p.(=)"	""	""
"0000909005"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909006"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909007"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909008"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909009"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909010"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909011"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909012"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909013"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909014"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909015"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909016"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909017"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909018"	"00000945"	"90"	"434"	"0"	"434"	"0"	"c.434T>C"	"r.(?)"	"p.(Phe145Ser)"	""	""
"0000909019"	"00000945"	"90"	"487"	"0"	"487"	"0"	"c.487delA"	"r.(?)"	"p.(Arg163AspfsTer13)"	""	""
"0000909020"	"00000945"	"30"	"123"	"0"	"123"	"0"	"c.123C>T"	"r.(?)"	"p.(Asn41=)"	""	""
"0000909021"	"00000945"	"30"	"123"	"0"	"123"	"0"	"c.123C>T"	"r.(?)"	"p.(Asn41=)"	""	""
"0000909022"	"00000945"	"30"	"124"	"0"	"124"	"0"	"c.124G>T"	"r.(?)"	"p.(Gly42Cys)"	""	""
"0000909023"	"00000945"	"30"	"124"	"0"	"124"	"0"	"c.124G>T"	"r.(?)"	"p.(Gly42Cys)"	""	""
"0000909024"	"00000945"	"30"	"543"	"0"	"543"	"0"	"c.543T>C"	"r.(?)"	"p.(Ala181=)"	""	""
"0000909025"	"00000945"	"30"	"693"	"0"	"693"	"0"	"c.693G>T"	"r.(?)"	"p.(Ala231=)"	""	""
"0000909026"	"00000945"	"30"	"775"	"0"	"775"	"0"	"c.*31G>A"	"r.(?)"	"p.(=)"	""	""
"0000909027"	"00000945"	"30"	"775"	"0"	"775"	"0"	"c.*31G>A"	"r.(?)"	"p.(=)"	""	""
"0000909029"	"00000945"	"90"	"529"	"0"	"529"	"0"	"c.529A>T"	"r.(?)"	"p.(Lys177*)"	""	""
"0000909030"	"00000945"	"90"	"211"	"0"	"211"	"0"	"c.211dup"	"r.(?)"	"p.(Ile71Asnfs*27)"	""	""
"0000909031"	"00000945"	"90"	"211"	"0"	"211"	"0"	"c.211dup"	"r.(?)"	"p.(Ile71Asnfs*27)"	""	""
"0000909032"	"00000945"	"90"	"211"	"0"	"211"	"0"	"c.211dup"	"r.(?)"	"p.(Ile71Asnfs*27)"	""	""
"0000909033"	"00000945"	"90"	"0"	"0"	"0"	"0"	"c.-1_208+171206{1}"	"r.0?"	"p.0?"	"_1_1i"	""
"0000909034"	"00000945"	"90"	"0"	"0"	"0"	"0"	"c.208+171206_*1976{1}"	"r.?"	"p.?"	"1i_5_"	""
"0000909037"	"00000945"	"90"	"0"	"0"	"0"	"0"	"c.-1_208+171206{1}"	"r.0?"	"p.0?"	"_1_1i"	""
"0000909038"	"00000945"	"90"	"0"	"0"	"0"	"0"	"c.208+171206_*1976{1}"	"r.?"	"p.?"	"1i_5_"	""
"0000909041"	"00000945"	"90"	"0"	"0"	"0"	"0"	"c.-1_(208+99318_208+108913){1}"	"r.0?"	"p.0?"	"_1_1i"	""
"0000909044"	"00000945"	"90"	"0"	"0"	"0"	"0"	"c.(208+99318_208+108913)_*1976{1}"	"r.?"	"p.?"	"1i_5_"	""
"0000909045"	"00000945"	"90"	"0"	"0"	"0"	"0"	"c.(193+1_194-1)_*1976{0}"	"r.?"	"p.?"	"1i_5_"	""
"0000909046"	"00000945"	"90"	"0"	"0"	"0"	"0"	"c.(193+1_194-1)_*1976{0}"	"r.?"	"p.?"	"1i_5_"	""
"0000909047"	"00000945"	"90"	"0"	"0"	"0"	"0"	"c.(193+1_194-1)_*1976{0}"	"r.?"	"p.?"	"1i_5_"	""
"0000909048"	"00000945"	"70"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000909052"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[450]"	"r.?"	"p.?"	""	"GAA[450]"
"0000909053"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[400]"	"r.?"	"p.?"	""	"GAA[400]"
"0000909054"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[400]"	"r.?"	"p.?"	""	"GAA[400]"
"0000909055"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[349]"	"r.?"	"p.?"	""	"GAA[349]"
"0000909056"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[315]"	"r.?"	"p.?"	""	"GAA[315]"
"0000909057"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[316]"	"r.?"	"p.?"	""	"GAA[316]"
"0000909058"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[311]"	"r.?"	"p.?"	""	"GAA[311]"
"0000909059"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[313]"	"r.?"	"p.?"	""	"GAA[313]"
"0000909060"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[296]"	"r.?"	"p.?"	""	"GAA[296]"
"0000909061"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[289]"	"r.?"	"p.?"	""	"GAA[289]"
"0000909062"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[256]"	"r.?"	"p.?"	""	"GAA[256]"
"0000909063"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[284]"	"r.?"	"p.?"	""	"GAA[284]"
"0000909064"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[268]"	"r.?"	"p.?"	""	"GAA[268]"
"0000909065"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[460]"	"r.?"	"p.?"	""	"GAA[460]"
"0000909066"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[430]"	"r.?"	"p.?"	""	"GAA[430]"
"0000909067"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[430]"	"r.?"	"p.?"	""	"GAA[430]"
"0000909068"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[430]"	"r.?"	"p.?"	""	"GAA[430]"
"0000909069"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[400]"	"r.?"	"p.?"	""	"GAA[400]"
"0000909070"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[350]"	"r.?"	"p.?"	""	"GAA[350]"
"0000909071"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[350]"	"r.?"	"p.?"	""	"GAA[350]"
"0000909072"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[342]"	"r.?"	"p.?"	""	"GAA[342]"
"0000909073"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[315]"	"r.?"	"p.?"	""	"GAA[315]"
"0000909074"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[312]"	"r.?"	"p.?"	""	"GAA[312]"
"0000909075"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[290]"	"r.?"	"p.?"	""	"GAA[290]"
"0000909076"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[460]"	"r.?"	"p.?"	""	"GAA[460]"
"0000909077"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[270]"	"r.?"	"p.?"	""	"GAA[270]"
"0000909078"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[270]"	"r.?"	"p.?"	""	"GAA[270]"
"0000909079"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[270]"	"r.?"	"p.?"	""	"GAA[270]"
"0000909080"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896TCCTTC[332]"	"r.?"	"p.?"	""	"GAAGGA[332]"
"0000909081"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[300]"	"r.?"	"p.?"	""	"GAA[300]"
"0000909082"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896TCCTTC[296]"	"r.?"	"p.?"	""	"GAAGGA[296]"
"0000909083"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896TCCTTC[282]"	"r.?"	"p.?"	""	"GAAGGA[282]"
"0000909084"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[270]"	"r.?"	"p.?"	""	"GAA[270]"
"0000909085"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[332]"	"r.?"	"p.?"	""	"GAA[332]"
"0000909086"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[330]"	"r.?"	"p.?"	""	"GAA[330]"
"0000909087"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[329]"	"r.?"	"p.?"	""	"GAA[329]"
"0000909088"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[328]"	"r.?"	"p.?"	""	"GAA[328]"
"0000909089"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[325]"	"r.?"	"p.?"	""	"GAA[325]"
"0000909090"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[325]"	"r.?"	"p.?"	""	"GAA[325]"
"0000909091"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[325]"	"r.?"	"p.?"	""	"GAA[325]"
"0000909092"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[290]"	"r.?"	"p.?"	""	"GAA[290]"
"0000909093"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[282]"	"r.?"	"p.?"	""	"GAA[282]"
"0000909094"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[257]"	"r.?"	"p.?"	""	"GAA[257]"
"0000909095"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[115]"	"r.?"	"p.?"	""	"GAA[115]"
"0000909096"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[282]"	"r.?"	"p.?"	""	"GAA[282]"
"0000909097"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[170]"	"r.?"	"p.?"	""	"GAA[170]"
"0000909098"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909099"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[74]"	"r.?"	"p.?"	""	"GAA[74]"
"0000909100"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[13]"	"r.?"	"p.?"	""	"GAA[13]"
"0000909101"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909102"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[58]"	"r.?"	"p.?"	""	"GAA[58]"
"0000909103"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[57]"	"r.?"	"p.?"	""	"GAA[57]"
"0000909104"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[12]"	"r.?"	"p.?"	""	"GAA[12]"
"0000909105"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909106"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[185]"	"r.?"	"p.?"	""	"GAA[185]"
"0000909107"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[14]"	"r.?"	"p.?"	""	"GAA[14]"
"0000909108"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[20]"	"r.?"	"p.?"	""	"GAA[20]"
"0000909109"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[12]"	"r.?"	"p.?"	""	"GAA[12]"
"0000909110"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[28]"	"r.?"	"p.?"	""	"GAA[28]"
"0000909111"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[29]"	"r.?"	"p.?"	""	"GAA[29]"
"0000909112"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[20]"	"r.?"	"p.?"	""	"GAA[20]"
"0000909113"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909114"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[54]"	"r.?"	"p.?"	""	"GAA[54]"
"0000909115"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909116"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[87]"	"r.?"	"p.?"	""	"GAA[87]"
"0000909117"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909118"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[25]"	"r.?"	"p.?"	""	"GAA[25]"
"0000909119"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[54]"	"r.?"	"p.?"	""	"GAA[54]"
"0000909120"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909121"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[29]"	"r.?"	"p.?"	""	"GAA[29]"
"0000909122"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909123"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[59]"	"r.?"	"p.?"	""	"GAA[59]"
"0000909124"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909125"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[65]"	"r.?"	"p.?"	""	"GAA[65]"
"0000909126"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[12]"	"r.?"	"p.?"	""	"GAA[12]"
"0000909127"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[12]"	"r.?"	"p.?"	""	"GAA[12]"
"0000909128"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[22]"	"r.?"	"p.?"	""	"GAA[22]"
"0000909129"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[12]"	"r.?"	"p.?"	""	"GAA[12]"
"0000909130"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[49]"	"r.?"	"p.?"	""	"GAA[49]"
"0000909131"	"00025781"	"90"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[315]"	"r.?"	"p.?"	""	"GAA[315]"
"0000909132"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909133"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[54]"	"r.?"	"p.?"	""	"GAA[54]"
"0000909134"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[100]"	"r.?"	"p.?"	""	"GAA[100]"
"0000909135"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[52]"	"r.?"	"p.?"	""	"GAA[52]"
"0000909136"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909137"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909138"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[27]"	"r.?"	"p.?"	""	"GAA[27]"
"0000909139"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[19]"	"r.?"	"p.?"	""	"GAA[19]"
"0000909140"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[25]"	"r.?"	"p.?"	""	"GAA[25]"
"0000909141"	"00025781"	"10"	"208"	"239747"	"208"	"239896"	"c.208+239747_208+239896CTT[170]"	"r.?"	"p.?"	""	"GAA[170]"
"0000909142"	"00000945"	"90"	"0"	"0"	"0"	"0"	"-"	"r.?"	"p.?"	"_1"	""
"0000909142"	"00025781"	"90"	"0"	"0"	"0"	"0"	"c.208+239747_208+239896CTT[(335_?)]"	"r.?"	"p.?"	"1i"	"GAA[>335]"
"0000909143"	"00000945"	"70"	"0"	"0"	"0"	"0"	"-"	"r.?"	"p.?"	""	""
"0000909143"	"00025781"	"90"	"0"	"0"	"0"	"0"	"c.208+239747_208+239896CTT[(250-334)]"	"r.?"	"p.?"	"1i"	"CTT[(250-334)]"
"0000959661"	"00000945"	"90"	"486"	"0"	"487"	"0"	"c.486_487del"	"r.(?)"	"p.(Tyr162*)"	""	""
"0000959661"	"00025781"	"90"	"501"	"0"	"502"	"0"	"c.501_502del"	"r.(?)"	"p.(Tyr167*)"	""	""
"0000959662"	"00000945"	"90"	"439"	"0"	"439"	"0"	"c.439G>T"	"r.(?)"	"p.(Glu147Ter)"	""	""
"0000959662"	"00025781"	"90"	"454"	"0"	"454"	"0"	"c.454G>T"	"r.(?)"	"p.(Glu152TER)"	""	""
"0000959663"	"00000945"	"90"	"439"	"0"	"439"	"0"	"c.439G>T"	"r.(?)"	"p.(Glu147Ter)"	""	""
"0000959664"	"00000945"	"90"	"439"	"0"	"439"	"0"	"c.439G>T"	"r.(?)"	"p.(Glu147Ter)"	""	""
"0000959665"	"00000945"	"90"	"439"	"0"	"439"	"0"	"c.439G>T"	"r.(?)"	"p.(Glu147Ter)"	""	""
"0000959666"	"00000945"	"90"	"439"	"0"	"439"	"0"	"c.439G>T"	"r.(?)"	"p.(Glu147Ter)"	""	""
"0000959667"	"00000945"	"90"	"439"	"0"	"439"	"0"	"c.439G>T"	"r.(?)"	"p.(Glu147Ter)"	""	""
"0000959668"	"00000945"	"90"	"439"	"0"	"439"	"0"	"c.439G>T"	"r.(?)"	"p.(Glu147Ter)"	""	""
"0001000400"	"00000945"	"50"	"671"	"0"	"671"	"0"	"c.671C>T"	"r.(?)"	"p.(Thr224Met)"	""	""
"0001000400"	"00025781"	"50"	"686"	"0"	"686"	"0"	"c.686C>T"	"r.(?)"	"p.(Thr229Met)"	""	""
"0001000401"	"00000945"	"50"	"197"	"0"	"197"	"0"	"c.197C>A"	"r.(?)"	"p.(Pro66His)"	""	""
"0001000401"	"00025781"	"50"	"212"	"0"	"212"	"0"	"c.212C>A"	"r.(?)"	"p.(Pro71His)"	""	""
"0001000402"	"00000945"	"30"	"88"	"0"	"88"	"0"	"c.88C>T"	"r.(?)"	"p.(Arg30Trp)"	""	""
"0001000402"	"00025781"	"30"	"209"	"-41262"	"209"	"-41262"	"c.209-41262C>T"	"r.(=)"	"p.(=)"	""	""
"0001039549"	"00000945"	"50"	"408"	"40827"	"408"	"40827"	"c.408+40827A>G"	"r.(=)"	"p.(=)"	""	""
"0001039549"	"00025781"	"50"	"423"	"40827"	"423"	"40827"	"c.423+40827A>G"	"r.(=)"	"p.(=)"	""	""
"0001039550"	"00000945"	"30"	"-449974"	"0"	"-449974"	"0"	"c.-449974del"	"r.(?)"	"p.(=)"	""	""
"0001039550"	"00025781"	"30"	"208"	"34852"	"208"	"34852"	"c.208+34852del"	"r.(=)"	"p.(=)"	""	""
"0001054709"	"00000945"	"50"	"-304049"	"0"	"-304049"	"0"	"c.-304049A>G"	"r.(?)"	"p.(=)"	""	""
"0001054709"	"00025781"	"50"	"208"	"180777"	"208"	"180777"	"c.208+180777A>G"	"r.(=)"	"p.(=)"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 151
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000002595"
"0000000209"	"0000005336"
"0000000209"	"0000005337"
"0000000209"	"0000005338"
"0000000209"	"0000005339"
"0000000209"	"0000005340"
"0000000209"	"0000005341"
"0000000209"	"0000005342"
"0000000210"	"0000010603"
"0000000210"	"0000013280"
"0000000210"	"0000013281"
"0000000210"	"0000013282"
"0000000210"	"0000013283"
"0000000210"	"0000013284"
"0000000210"	"0000013285"
"0000000210"	"0000013286"
"0000429490"	"0000909005"
"0000429491"	"0000909006"
"0000429492"	"0000909007"
"0000429493"	"0000909008"
"0000429494"	"0000909009"
"0000429495"	"0000909010"
"0000429496"	"0000909011"
"0000429497"	"0000909012"
"0000429498"	"0000909013"
"0000429499"	"0000909014"
"0000429500"	"0000909015"
"0000429501"	"0000909016"
"0000429502"	"0000909017"
"0000429503"	"0000909018"
"0000429504"	"0000909019"
"0000429505"	"0000909020"
"0000429506"	"0000909021"
"0000429507"	"0000909022"
"0000429508"	"0000909023"
"0000429509"	"0000909024"
"0000429510"	"0000909025"
"0000429511"	"0000909026"
"0000429512"	"0000909027"
"0000429513"	"0000909029"
"0000429514"	"0000909030"
"0000429515"	"0000909031"
"0000429516"	"0000909032"
"0000429517"	"0000909033"
"0000429517"	"0000909034"
"0000429518"	"0000909037"
"0000429518"	"0000909038"
"0000429519"	"0000909041"
"0000429519"	"0000909044"
"0000429520"	"0000909045"
"0000429521"	"0000909046"
"0000429522"	"0000909047"
"0000429523"	"0000909048"
"0000429526"	"0000909052"
"0000429526"	"0000909097"
"0000429527"	"0000909053"
"0000429527"	"0000909098"
"0000429528"	"0000909054"
"0000429528"	"0000909099"
"0000429529"	"0000909055"
"0000429529"	"0000909100"
"0000429530"	"0000909056"
"0000429530"	"0000909101"
"0000429531"	"0000909057"
"0000429531"	"0000909102"
"0000429532"	"0000909058"
"0000429532"	"0000909103"
"0000429533"	"0000909059"
"0000429533"	"0000909104"
"0000429534"	"0000909060"
"0000429534"	"0000909105"
"0000429535"	"0000909061"
"0000429535"	"0000909106"
"0000429536"	"0000909062"
"0000429536"	"0000909107"
"0000429537"	"0000909063"
"0000429537"	"0000909108"
"0000429538"	"0000909064"
"0000429538"	"0000909109"
"0000429539"	"0000909065"
"0000429539"	"0000909110"
"0000429540"	"0000909066"
"0000429540"	"0000909111"
"0000429541"	"0000909067"
"0000429541"	"0000909112"
"0000429542"	"0000909068"
"0000429542"	"0000909113"
"0000429543"	"0000909069"
"0000429543"	"0000909114"
"0000429544"	"0000909070"
"0000429544"	"0000909115"
"0000429545"	"0000909071"
"0000429545"	"0000909116"
"0000429546"	"0000909072"
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