### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NMNAT1)
# 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}}"
"NMNAT1"	"nicotinamide nucleotide adenylyltransferase 1"	"1"	"p36.22"	"unknown"	"NC_000001.10"	"UD_136089586122"	""	"http://www.LOVD.nl/NMNAT1"	""	"1"	"17877"	"64802"	"608700"	"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"	"http://databases.lovd.nl/shared/refseq/NMNAT1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2025-04-07 14:22:35"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00014647"	"NMNAT1"	"nicotinamide nucleotide adenylyltransferase 1"	"001"	"NM_022787.3"	""	"NP_073624.2"	""	""	""	"-144"	"3637"	"840"	"10003486"	"10045556"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00219"	"LCA9"	"Leber congenital amaurosis, type 9 (LCA-9)"	"AR"	"608553"	""	""	""	"00008"	"2013-10-02 12:35:43"	"00006"	"2021-12-10 21:51:32"
"01745"	"DFNB1A"	"deafness, autosomal recessive, type 1A (DFNB-1A, incl. di-genic)"	"AR;DD"	"220290"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04210"	"LCA"	"Leber congenital amaurosis (LCA)"	""	""	""	""	""	"00006"	"2015-02-27 18:57:11"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04249"	"macular dystrophy"	"dystrophy, macular"	""	""	""	""	""	"00006"	"2015-05-04 22:10:58"	"00006"	"2024-02-15 21:18:39"
"04250"	"-"	"retinal degeneration"	""	""	""	""	""	"00006"	"2015-05-04 22:12:01"	""	""
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"NMNAT1"	"00219"
"NMNAT1"	"04210"


## Individuals ## Do not remove or alter this header ##
## Count = 219
"{{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}}"
"00003027"	""	""	""	"1"	""	"00130"	"{PMID:Neveling 2013:24123792}"	"Previous tests done: LCA-A, LCA5"	""	""	""	""	"0"	""	""	""	""
"00032720"	""	""	""	"1"	""	"00243"	""	"2-generation family, patient and unaffected heterozygous carrier parents"	"F"	"no"	"India"	""	"0"	""	""	"North India"	""
"00032721"	""	""	""	"1"	""	"00243"	""	"2-generation family, 1 affected and unaffected heterozygous carrier parents"	"M"	"yes"	"India"	""	"0"	""	""	"South India"	""
"00046335"	""	""	""	"3"	""	"01352"	"{PMID:Coppieters 2015:26316326}"	"4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Niger"	""	"0"	""	""	""	"26316326-F1"
"00046336"	""	""	""	"2"	""	"01352"	"{PMID:Coppieters 2015:26316326}"	"4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Morocco"	""	"0"	""	""	""	"26316326-F2"
"00046498"	""	""	""	"1"	""	"01352"	"{PMID:Coppieters 2015:26316326}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Japan"	""	"0"	""	""	""	"26316326-F3"
"00046499"	""	""	""	"1"	""	"01352"	"{PMID:Coppieters 2015:26316326}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Japan"	""	"0"	""	""	""	"26316326-F4"
"00046501"	""	""	""	"1"	""	"01352"	""	""	"M"	"no"	"Belgium"	""	"0"	""	""	""	""
"00046502"	""	""	""	"1"	""	"01352"	""	""	"M"	"no"	"Belgium"	""	"0"	""	""	""	""
"00046503"	""	""	""	"1"	""	"01352"	""	""	"F"	"no"	""	""	"0"	""	""	""	""
"00046505"	""	""	""	"1"	""	"01352"	""	""	"M"	"?"	""	""	"0"	""	""	""	""
"00046506"	""	""	""	"1"	""	"01352"	""	""	"?"	"?"	""	""	"0"	""	""	""	""
"00046582"	""	""	""	"2"	""	"00006"	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}"	"3-generation family, 2 affected sisters, unaffected heterozygous carrier parents/children"	"F"	"no"	"Canada"	">56y"	"0"	""	""	"French"	""
"00046583"	""	""	""	"1"	""	"00006"	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/brother/sister"	"M"	"no"	"Canada"	">13y"	"0"	""	""	"French"	""
"00046584"	""	""	""	"1"	""	"00006"	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	""	""	"0"	""	""	"European"	""
"00046585"	""	""	""	"1"	""	"00006"	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Saudi Arabia"	">10y"	"0"	""	""	""	""
"00046586"	""	""	""	"1"	""	"00006"	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"United Kingdom (Great Britain)"	">33y"	"0"	""	""	"Irish"	""
"00046587"	""	""	""	"1"	""	"00006"	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}"	""	""	""	"Russian Federation"	">41y"	"0"	""	""	""	""
"00046588"	""	""	""	"1"	""	"00006"	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}"	""	""	""	"Haiti"	">10y"	"0"	""	""	"African"	""
"00046589"	""	""	""	"8"	""	"00006"	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}"	"4-generation family, 8 affecteds (7F, 1M), unaffected heterozygous carrier parents/sibs"	""	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00046611"	""	""	""	"7"	""	"00006"	"{PMID:Falk 2012:22842227}; {DOI:Falk 2012:10.1038/ng.2361}"	"4-generation family seggregating LCA and hearing loss, 7 affecteds (2 LCA, 2 hearing loss, 3 both), unaffected heterozygous carrier parents/sibs"	""	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00046612"	""	""	""	"1"	""	"00006"	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/sister"	"F"	"no"	"United States"	""	"0"	""	""	"Asian"	""
"00046613"	""	""	""	"1"	""	"00006"	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"United States"	""	"0"	""	""	"African-American"	""
"00046614"	""	""	""	"1"	""	"00006"	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"India"	""	"0"	""	""	""	""
"00046804"	""	""	""	"1"	""	"00006"	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"India"	""	"0"	""	""	""	""
"00046805"	""	""	""	"1"	""	"00006"	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"India"	""	"0"	""	""	""	""
"00046806"	""	""	""	"1"	""	"00006"	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"United States"	""	"0"	""	""	"European"	""
"00046807"	""	""	""	"1"	""	"00006"	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"United States"	""	"0"	""	""	"Caribbean, Sri Lankan"	""
"00046808"	""	""	""	"1"	""	"00006"	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"United States"	""	"0"	""	""	"Caribbean"	""
"00046809"	""	""	""	"1"	""	"00006"	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"United States"	""	"0"	""	""	"Caribbean, Irish"	""
"00046810"	""	""	""	"1"	""	"00006"	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"United States"	""	"0"	""	""	"Polish"	""
"00046811"	""	""	""	"1"	""	"00006"	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"United States"	""	"0"	""	""	"British"	""
"00046812"	""	""	""	"1"	""	"00006"	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"United States"	""	"0"	""	""	"British"	""
"00046813"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046814"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046815"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046816"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046817"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046818"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046819"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046820"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046821"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046822"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046823"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046824"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046825"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046826"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046827"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046828"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046829"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046830"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046831"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046832"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046833"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046834"	""	""	""	"1"	""	"00006"	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"France"	""	"0"	""	""	""	""
"00046835"	""	""	""	"1"	""	"00006"	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"United States"	""	"0"	""	""	"Chinese, Hispanic;Cherokee, Hispanic"	""
"00046836"	""	""	""	"1"	""	"00006"	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Brazil"	""	"0"	""	""	"European"	""
"00046837"	""	""	""	"1"	""	"00006"	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Brazil"	""	"0"	""	""	"Brazilian"	""
"00046838"	""	""	""	"1"	""	"00006"	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Canada"	""	"0"	""	""	"European, west"	""
"00046839"	""	""	""	"1"	""	"00006"	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Brazil"	""	"0"	""	""	"African-Protugese;Hispanic"	""
"00046840"	""	""	""	"1"	""	"00006"	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Canada"	""	"0"	""	""	"Greek"	""
"00046841"	""	""	""	"1"	""	"00006"	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"United States"	""	"0"	""	""	"European"	""
"00046842"	""	""	""	"1"	""	"00006"	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"United States"	""	"0"	""	""	"European"	""
"00046843"	""	""	""	"1"	""	"00006"	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Canada"	""	"0"	""	""	"British;Dutch"	""
"00046844"	""	""	""	"1"	""	"00006"	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Canada"	""	"0"	""	""	"British;Dutch"	""
"00046845"	""	""	""	"1"	""	"00006"	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Australia"	""	"0"	""	""	"Australian, English"	""
"00144156"	""	""	""	"1"	""	"01780"	"{PMID:Katagiri 2014:25268133}"	"index patient"	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00207693"	""	""	""	"1"	""	"01244"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00269573"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	""	"0"	""	""	""	""
"00269574"	""	""	""	"1"	""	"03508"	""	""	"M"	"no"	"Korea"	""	"0"	""	""	""	""
"00269575"	""	""	""	"1"	""	"03508"	""	""	"M"	"no"	"Korea"	""	"0"	""	""	""	""
"00269576"	""	""	""	"1"	""	"03508"	""	""	"M"	"no"	"Korea"	""	"0"	""	""	""	""
"00269577"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	""	"0"	""	""	""	""
"00269578"	""	""	""	"1"	""	"03508"	""	""	"M"	"no"	"Korea"	""	"0"	""	""	""	""
"00269579"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	""	"0"	""	""	""	""
"00269580"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	""	"0"	""	""	""	""
"00269581"	""	""	""	"1"	""	"03508"	""	""	"F"	"no"	"Korea"	""	"0"	""	""	""	""
"00289459"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00308407"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC05012"
"00308408"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC06499"
"00308524"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 patient with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00309242"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00325520"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"single patient"	""	""	"Mexico"	""	"0"	""	""	""	"EC03"
"00327970"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G000976"
"00328020"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G001280"
"00328143"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G005544"
"00332272"	""	""	""	"1"	""	"00000"	"{PMID:Porto 2017:29186038}"	"proband"	""	""	"Brazil"	""	"0"	""	""	""	"Fam20PatFBP_57"
"00332368"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2017:29178642}"	""	""	""	"Australia"	""	"0"	""	""	""	"Fam1565"
"00332369"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2017:29178642}"	""	""	""	"Australia"	""	"0"	""	""	""	"Fam1819"
"00332370"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2017:29178642}"	""	""	""	"Australia"	""	"0"	""	""	""	"Fam1965"
"00332385"	""	""	""	"1"	""	"00000"	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Korea"	""	"0"	""	""	""	"Pat5;Pat6;Pat6"
"00332386"	""	""	""	"1"	""	"00000"	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Korea"	""	"0"	""	""	""	"Pat4;Pat7;Pat7"
"00332387"	""	""	""	"1"	""	"00000"	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"Pat6;Pat8;Pat8"
"00332463"	""	""	""	"1"	""	"00000"	"{PMID:Di Iorio 2017:29053603}"	""	""	""	"Italy"	""	"0"	""	""	""	"Pat27"
"00333941"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"400"
"00333952"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"413"
"00333953"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"414"
"00333954"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"415"
"00335445"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2018:29641573}"	""	""	""	""	""	"0"	""	""	""	"RP023"
"00358906"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	""	""	"yes"	"China"	""	"0"	""	""	"Han"	"Fam18"
"00358907"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	"Han"	"Fam19"
"00358908"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	"yes"	"China"	""	"0"	""	""	"Han"	"Fam20"
"00358909"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	"Han"	"Fam21"
"00358910"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27422788}"	"family, 1 affected, unaffected heterozygous carrier parents"	""	""	"China"	""	"0"	""	""	"Han"	"Fam22"
"00359377"	""	""	""	"1"	""	"00000"	"{PMID:Bravo-Gil 2016:27032803}"	"see paper"	""	""	"Spain"	""	"0"	""	""	""	"157"
"00372478"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"120"
"00372479"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"94"
"00372480"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2015:26047050}"	"index case"	""	""	"China"	""	"0"	""	""	""	"600"
"00373893"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-069-778"
"00373898"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-523-1075"
"00373900"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-535-1092"
"00373901"	""	""	""	"1"	""	"00000"	"{PMID:Consugar 2015:25412400}"	""	""	""	"United States"	""	"0"	""	""	""	"OGI-520-1072"
"00376865"	""	""	""	"1"	""	"00000"	"{PMID:Coppieters 2014:24625443}"	"see paper"	""	""	"Tunisia"	""	"0"	""	""	""	"Fam13"
"00377518"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family EYE42"	"M"	"no"	"Japan"	""	"0"	""	""	"Asian"	"EYE42"
"00377534"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family EYE159"	"M"	"no"	"Japan"	""	"0"	""	""	"Asian"	"EYE159"
"00377544"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family S132"	"F"	"no"	"Japan"	""	"0"	""	""	"Asian"	"S132"
"00378013"	""	""	""	"1"	""	"03508"	""	""	"?"	""	""	""	""	""	""	""	""
"00378014"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_SH_0004"
"00378061"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_SH_0040"
"00379634"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0014"
"00379660"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0044"
"00379848"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"M"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016121212"
"00380095"	""	""	""	"1"	""	"03508"	""	""	"F"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0185"
"00381043"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00381176"	""	""	""	"1"	""	"00008"	"{PMID:Neveling-2013:24123792}"	""	""	""	""	""	"0"	""	""	""	""
"00381799"	""	""	""	"1"	""	"00000"	"{PMID:Corton-2013:23940504}"	""	""	"no"	""	""	"0"	""	""	"Spanish"	"P-06-1075"
"00381941"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2018:30576320}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"10"
"00384451"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"14631"
"00385094"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"191109"
"00386706"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2832_004417"
"00388165"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"22;Pat56"
"00388166"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"23"
"00388167"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"24"
"00388168"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"M"	""	"Korea"	""	"0"	""	""	""	"25"
"00388169"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	"individual previously described in PMID:29145603, PMID:28966547  - possible duplicate in the database"	"F"	""	"Korea"	""	"0"	""	""	""	"26"
"00388170"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	"individual previously described in PMID:29145603, PMID:28966547  - possible duplicate in the database"	"M"	""	"Korea"	""	"0"	""	""	""	"27"
"00388171"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	"individual previously described in PMID:29145603, PMID:28966547  - possible duplicate in the database"	"F"	""	"Korea"	""	"0"	""	""	""	"28"
"00388172"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	"individual previously described in PMID:29145603, PMID:28966547  - possible duplicate in the database"	"F"	""	"Korea"	""	"0"	""	""	""	"29"
"00388173"	""	""	""	"1"	""	"00000"	"{PMID:Surl 2020:32165824}"	""	"F"	""	"Korea"	""	"0"	""	""	""	"30"
"00388483"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2017:28378820}, {PMID:Ellingsford 2018:29074561}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15005008"
"00389022"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 102, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"306"
"00389062"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 117, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"346"
"00389088"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 124, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"372"
"00389185"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 151, Leber congenital amaurosis, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"469"
"00389776"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 661, cone-rod dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1060"
"00389777"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 661, cone-rod dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1061"
"00390024"	""	""	""	"1"	""	"00000"	"{PMID:Ruberto 2020:32507954}"	""	"?"	""	"Italy"	""	"0"	""	""	""	"1"
"00390029"	""	""	""	"1"	""	"00000"	"{PMID:Ruberto 2020:32507954}"	""	"?"	""	"Italy"	""	"0"	""	""	""	"16"
"00390319"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G000976"
"00390320"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G001280"
"00390321"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G005544"
"00390463"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"G010761"
"00390731"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2020:32641690}"	"Family F16, patient V.4"	"M"	""	"Tunisia"	""	"0"	""	""	""	"F16_V.4"
"00390732"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2020:32641690}"	"Family F16, patient V.1"	"F"	""	"Tunisia"	""	"0"	""	""	""	"F16_V.1"
"00391580"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"79"
"00391665"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"61"
"00391666"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"62"
"00391667"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"63"
"00391668"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"64"
"00391669"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"65"
"00391670"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"66"
"00391671"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"67"
"00392594"	""	""	""	"1"	""	"00000"	"{PMID:Ma 2021:33691693}"	""	"?"	""	"Korea"	""	"0"	""	""	""	"52"
"00392621"	""	""	""	"1"	""	"00000"	"{PMID:Ma 2021:33691693}"	""	"?"	""	"Korea"	""	"0"	""	""	""	"89"
"00393608"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00395888"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F027"
"00396216"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"F"	""	""	""	"0"	""	""	"Polish"	""
"00396226"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"M"	""	""	""	"0"	""	""	"Polish"	""
"00408835"	""	""	""	"2"	""	"00000"	"{PMID:Jin-2014:24791140}"	"Family, 2 affected"	"M;F"	""	"China"	""	"0"	""	""	"Chinese"	"Family-035"
"00408836"	""	""	""	"2"	""	"00000"	"{PMID:Jin-2014:24791140}"	"Family, 2 affected"	"M;F"	""	"China"	""	"0"	""	""	"Chinese"	"Family-035"
"00408851"	""	""	""	"1"	""	"00000"	"{PMID:Siemiatkowska-2014:24830548}"	"no ocular abnormalities"	"F"	""	""	""	"0"	""	""	""	"II-1"
"00408852"	""	""	""	"1"	""	"00000"	"{PMID:Siemiatkowska-2014:24830548}"	""	"M"	""	""	""	"0"	""	""	""	"II-4"
"00408853"	""	""	""	"1"	""	"00000"	"{PMID:Siemiatkowska-2014:24940029}"	""	"M"	""	""	""	"0"	""	""	"German / French"	"1"
"00408854"	""	""	""	"1"	""	"00000"	"{PMID:Siemiatkowska-2014:24940029}"	""	"F"	""	""	""	"0"	""	""	"German"	"2"
"00408855"	""	""	""	"1"	""	"00000"	"{PMID:Siemiatkowska-2014:24940029}"	""	"M"	""	""	""	"0"	""	""	"Dutch"	"3.1"
"00408856"	""	""	""	"1"	""	"00000"	"{PMID:Siemiatkowska-2014:24940029}"	""	"F"	""	""	""	"0"	""	""	"Dutch"	"3.2"
"00408857"	""	""	""	"1"	""	"00000"	"{PMID:Siemiatkowska-2014:24940029}"	""	"M"	""	""	""	"0"	""	""	"Danish"	"4"
"00408858"	""	""	""	"1"	""	"00000"	"{PMID:Siemiatkowska-2014:24940029}"	""	"F"	""	""	""	"0"	""	""	"German"	"5"
"00408859"	""	""	""	"1"	""	"00000"	"{PMID:Siemiatkowska-2014:24940029}"	""	"M"	""	""	""	"0"	""	""	"Dutch"	"6"
"00408860"	""	""	""	"1"	""	"00000"	"{PMID:Deng-2015:25988908}"	""	"M"	"yes"	"China"	""	"0"	""	""	"Chinese"	"II:2"
"00408861"	""	""	""	"1"	""	"00000"	"{PMID:Deng-2015:25988908}"	""	"M"	"yes"	"China"	""	"0"	""	""	"Chinese"	"II:5"
"00408862"	""	""	""	"1"	""	"00000"	"{PMID:Herdergott-2015:26464178}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"Patient 1 (II.1)"
"00408863"	""	""	""	"1"	""	"00000"	"{PMID:Herdergott-2015:26464178}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"Patient 2 (II.3)"
"00408864"	""	""	""	"1"	""	"00000"	"{PMID:Khan-2018:28369829}"	""	"F"	""	""	""	"0"	""	""	"Arab"	"II:1"
"00408865"	""	""	""	"1"	""	"00000"	"{PMID:Khan-2018:28369829}"	""	"M"	""	""	""	"0"	""	""	"Arab"	"II:3"
"00408866"	""	""	""	"1"	""	"00000"	"{PMID:Nash-2017:29184169}"	""	"F"	"no"	""	""	"0"	""	""	"Indian"	"Case 1"
"00408867"	""	""	""	"1"	""	"00000"	"{PMID:Nash-2017:29184169}"	""	"F"	"no"	""	""	"0"	""	""	"Caucasian"	"Case 2"
"00408868"	""	""	""	"1"	""	"00000"	"{PMID:Bedoni-2020:32533184}"	""	"M"	"no"	"Italy"	""	"0"	""	""	""	"P1"
"00408869"	""	""	""	"1"	""	"00000"	"{PMID:Bedoni-2020:32533184}"	""	"F"	"no"	"Italy"	""	"0"	""	""	""	"P2"
"00408870"	""	""	""	"1"	""	"00000"	"{PMID:Bedoni-2020:32533184}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"P3"
"00419709"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	"M"	""	""	""	"0"	""	""	""	"070822"
"00420409"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F027"
"00429972"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429979"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430035"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00436605"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"M"	"no"	"Mexico"	""	""	""	"NONE"	"Hispanic"	"1546360"
"00441663"	""	""	""	"3"	""	"04542"	"{PMID:de Bruijn 2023:36524988}"	"family, 3 affected"	""	""	""	""	"0"	""	""	""	"073584"
"00447259"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-983"
"00447597"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-925"
"00450889"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"067243"
"00450890"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"072099"
"00450891"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"072327"
"00450892"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"079823"
"00451064"	""	""	""	"1"	""	"00006"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	""	""	"0"	""	""	""	"066825"
"00451076"	""	""	""	"1"	""	"00006"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	""	""	"0"	""	""	""	"067141"
"00451090"	""	""	""	"1"	""	"00006"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	""	""	"0"	""	""	""	"067218"
"00451117"	""	""	""	"1"	""	"00006"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	""	""	"0"	""	""	""	"070979"
"00451220"	""	""	""	"1"	""	"00006"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	""	""	"0"	""	""	""	"072171"
"00451531"	""	""	""	"6"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"5-generation family, 6 affected (4F, 2M)"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamAPatIV4"
"00451532"	""	""	"00451531"	"1"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"niece"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamAPatV1"
"00451533"	""	""	"00451531"	"1"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"daughter"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamAPatV3"
"00451534"	""	""	"00451531"	"1"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"daughter"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamAPatV6"
"00451535"	""	""	"00451531"	"1"	""	"04543"	"{PMID:Basharat 2024:38815792}"	"daughter"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamAPatV7"
"00464638"	""	""	""	"1"	""	"02230"	"{PMID:Capasso 2025:40251809}"	""	"M"	""	"Italy"	""	"0"	""	""	"white"	"Pat8"
"00464639"	""	""	""	"1"	""	"02230"	"{PMID:Capasso 2025:40251809}"	""	"M"	""	"Italy"	""	"0"	""	""	"white"	"Pat9"
"00464640"	""	""	""	"1"	""	"02230"	"{PMID:Capasso 2025:40251809}"	""	"F"	""	"Italy"	""	"0"	""	""	"white"	"Pat10"
"00464641"	""	""	""	"1"	""	"02230"	"{PMID:Capasso 2025:40251809}"	""	"M"	""	"Italy"	""	"0"	""	""	"white"	"078281"
"00464642"	""	""	""	"1"	""	"02230"	"{PMID:Capasso 2025:40251809}"	""	""	""	""	""	"0"	""	""	""	"Pat6"
"00464643"	""	""	""	"1"	""	"00006"	"{PMID:Capasso 2025:40251809}"	""	""	""	""	""	"0"	""	""	""	"Pat7"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 220
"{{individualid}}"	"{{diseaseid}}"
"00003027"	"00219"
"00032720"	"00219"
"00032721"	"00219"
"00046335"	"00219"
"00046336"	"00219"
"00046498"	"00219"
"00046499"	"00219"
"00046501"	"00219"
"00046502"	"00219"
"00046503"	"00219"
"00046505"	"00219"
"00046506"	"00219"
"00046582"	"00219"
"00046583"	"00219"
"00046584"	"00219"
"00046585"	"00219"
"00046586"	"00219"
"00046587"	"00219"
"00046588"	"00219"
"00046589"	"00219"
"00046611"	"01745"
"00046611"	"04210"
"00046612"	"00219"
"00046613"	"00219"
"00046614"	"00219"
"00046804"	"00219"
"00046805"	"00219"
"00046806"	"00219"
"00046807"	"00219"
"00046808"	"00219"
"00046809"	"00219"
"00046810"	"00219"
"00046811"	"00219"
"00046812"	"00219"
"00046813"	"00219"
"00046814"	"00219"
"00046815"	"00219"
"00046816"	"00219"
"00046817"	"00219"
"00046818"	"00219"
"00046819"	"00219"
"00046820"	"00219"
"00046821"	"00219"
"00046822"	"00219"
"00046823"	"00219"
"00046824"	"00219"
"00046825"	"00219"
"00046826"	"00219"
"00046827"	"00219"
"00046828"	"00219"
"00046829"	"00219"
"00046830"	"00219"
"00046831"	"00219"
"00046832"	"00219"
"00046833"	"00219"
"00046834"	"00219"
"00046835"	"00219"
"00046836"	"00219"
"00046837"	"00219"
"00046838"	"00219"
"00046839"	"00219"
"00046840"	"00219"
"00046841"	"00219"
"00046842"	"00219"
"00046843"	"00219"
"00046844"	"00219"
"00046845"	"00219"
"00144156"	"04214"
"00207693"	"04214"
"00269573"	"04210"
"00269574"	"04210"
"00269575"	"04210"
"00269576"	"04210"
"00269577"	"04210"
"00269578"	"04210"
"00269579"	"04210"
"00269580"	"04210"
"00269581"	"04210"
"00289459"	"00198"
"00308407"	"04214"
"00308408"	"04214"
"00308524"	"04214"
"00309242"	"04214"
"00325520"	"04214"
"00327970"	"04214"
"00328020"	"04214"
"00328143"	"04214"
"00332272"	"04214"
"00332368"	"04214"
"00332369"	"04214"
"00332370"	"04214"
"00332385"	"04214"
"00332386"	"04214"
"00332387"	"04214"
"00332463"	"04214"
"00333941"	"04214"
"00333952"	"04214"
"00333953"	"04214"
"00333954"	"04214"
"00335445"	"04214"
"00358906"	"04214"
"00358907"	"04214"
"00358908"	"04214"
"00358909"	"04214"
"00358910"	"04214"
"00359377"	"04214"
"00372478"	"04214"
"00372479"	"04214"
"00372480"	"04214"
"00373893"	"04214"
"00373898"	"04214"
"00373900"	"04214"
"00373901"	"04214"
"00376865"	"04214"
"00377518"	"04214"
"00377534"	"04214"
"00377544"	"04214"
"00378013"	"04210"
"00378014"	"04210"
"00378061"	"04210"
"00379634"	"04210"
"00379660"	"04210"
"00379848"	"04214"
"00380095"	"00112"
"00381043"	"04214"
"00381176"	"04214"
"00381799"	"04214"
"00381941"	"04214"
"00384451"	"04214"
"00385094"	"04214"
"00386706"	"04214"
"00388165"	"04214"
"00388166"	"04214"
"00388167"	"04214"
"00388168"	"04214"
"00388169"	"04214"
"00388170"	"04214"
"00388171"	"04214"
"00388172"	"04214"
"00388173"	"04214"
"00388483"	"04214"
"00389022"	"04214"
"00389062"	"04214"
"00389088"	"04214"
"00389185"	"04214"
"00389776"	"04214"
"00389777"	"04214"
"00390024"	"04214"
"00390029"	"04214"
"00390319"	"04214"
"00390320"	"04214"
"00390321"	"04214"
"00390463"	"05611"
"00390731"	"04214"
"00390732"	"04214"
"00391580"	"04214"
"00391665"	"04214"
"00391666"	"04214"
"00391667"	"04214"
"00391668"	"04214"
"00391669"	"04214"
"00391670"	"04214"
"00391671"	"04214"
"00392594"	"04214"
"00392621"	"04214"
"00393608"	"04214"
"00395888"	"04214"
"00396216"	"04214"
"00396226"	"04214"
"00408835"	"04214"
"00408836"	"04214"
"00408851"	"00000"
"00408852"	"04214"
"00408853"	"04214"
"00408854"	"04214"
"00408855"	"04214"
"00408856"	"04214"
"00408857"	"04214"
"00408858"	"04214"
"00408859"	"04214"
"00408860"	"04214"
"00408861"	"04214"
"00408862"	"04214"
"00408863"	"04214"
"00408864"	"04214"
"00408865"	"04214"
"00408866"	"04214"
"00408867"	"04214"
"00408868"	"04214"
"00408869"	"04214"
"00408870"	"04214"
"00419709"	"04214"
"00420409"	"04214"
"00429972"	"00112"
"00429979"	"00112"
"00430035"	"04210"
"00436605"	"00219"
"00441663"	"04210"
"00447259"	"00198"
"00447597"	"00198"
"00450889"	"04249"
"00450890"	"04249"
"00450891"	"04249"
"00450892"	"04249"
"00451064"	"04249"
"00451076"	"04249"
"00451090"	"04249"
"00451117"	"04249"
"00451220"	"04249"
"00451531"	"00198"
"00451532"	"00198"
"00451533"	"00198"
"00451534"	"00198"
"00451535"	"00198"
"00464638"	"04214"
"00464639"	"04214"
"00464640"	"04214"
"00464641"	"04214"
"00464642"	"04250"
"00464643"	"04250"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00198, 00219, 01745, 04210, 04214, 04249, 04250, 05611
## Count = 158
"{{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}}"
"0000001878"	"00219"	"00003027"	"00130"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000026150"	"00219"	"00032720"	"00243"	"Familial, autosomal recessive"	""	"Lebers Congenital Amaurosis"	""	""	""	""	""	""	""	""	""	""	""
"0000026151"	"00219"	"00032721"	"00243"	"Familial, autosomal recessive"	""	"Lebers Congenital Amaurosis"	""	""	""	""	""	""	""	""	""	""	""
"0000034264"	"00219"	"00046501"	"01352"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000034265"	"00219"	"00046506"	"01352"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000034266"	"00219"	"00046502"	"01352"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000034267"	"00219"	"00046335"	"01352"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000034268"	"00219"	"00046336"	"01352"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000034269"	"00219"	"00046498"	"01352"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"LCA-9"	""	""
"0000034270"	"00219"	"00046499"	"01352"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"LCA-9"	""	""
"0000034271"	"00219"	"00046503"	"01352"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000034272"	"00219"	"00046505"	"01352"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000034273"	"00219"	"00046582"	"00006"	"Familial, autosomal recessive"	"56y"	"see paper; no light perception, counting fingers vision, hyperopia, nystagmus, pseudophakia, …"	""	""	""	""	""	""	""	""	""	""	""
"0000034274"	"00219"	"00046583"	"00006"	"Isolated (sporadic)"	"13y"	"see paper; counting fingers vision, hyperopia, nystagmus, …"	""	""	""	""	""	""	""	""	""	""	""
"0000034275"	"00219"	"00046584"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000034276"	"00219"	"00046585"	"00006"	"Isolated (sporadic)"	"10y"	"see paper; no light perception, hyperopia, nystagmus, …"	""	""	""	""	""	""	""	""	""	""	""
"0000034277"	"00219"	"00046586"	"00006"	"Isolated (sporadic)"	"33y"	"see paper; 20/2000vision, hyperopia, nystagmus, …"	""	""	""	""	""	""	""	""	""	""	""
"0000034278"	"00219"	"00046587"	"00006"	"Isolated (sporadic)"	"41y"	"see paper; counting fingers vision, hyperopia, nystagmus, …"	""	""	""	""	""	""	""	""	""	""	""
"0000034279"	"00219"	"00046588"	"00006"	"Isolated (sporadic)"	"10y"	"see paper; counting fingers vision, hyperopia, nystagmus, …"	""	""	""	""	""	""	""	""	""	""	""
"0000034280"	"00219"	"00046589"	"00006"	"Familial, autosomal recessive"	""	"see paper; age 2-30y, light perception vision, congenital visual loss, nystagmus, nyctalopia, 8/8 have acquired macular colobomas, cataracts (PSCC), white retinal dots, retinal pigment, 1/8 has keratoconus, …"	""	""	""	""	""	""	""	""	""	""	""
"0000034291"	"01745"	"00046611"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000034292"	"04210"	"00046611"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000034293"	"00219"	"00046612"	"00006"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000034294"	"00219"	"00046613"	"00006"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000116934"	"04214"	"00144156"	"01780"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000155483"	"04214"	"00207693"	"01244"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000233834"	"04214"	"00308407"	"00004"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000233835"	"04214"	"00308408"	"00004"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000233952"	"04214"	"00308524"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234562"	"04214"	"00309242"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000244007"	"04214"	"00325520"	"00006"	"Unknown"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000246197"	"04214"	"00327970"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000246247"	"04214"	"00328020"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000246370"	"04214"	"00328143"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250459"	"04214"	"00332272"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis, early-onset retinal dystrophy"	""
"0000250554"	"04214"	"00332368"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250555"	"04214"	"00332369"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250556"	"04214"	"00332370"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000250571"	"04214"	"00332385"	"00000"	"Familial, autosomal recessive"	"1y6m"	"Roving nystagmus; atropic macula; oculodigital sign; ERG extinguished"	""	""	""	""	""	""	""	""	"LCA"	"Leber congenital amaurosis"	""
"0000250572"	"04214"	"00332386"	"00000"	"Familial, autosomal recessive"	"2y4m"	"horizontal jerk nystagmus; atropic macula; oculodigital sign; ERG extinguished"	""	""	""	""	""	""	""	""	"LCA"	"Leber congenital amaurosis"	""
"0000250573"	"04214"	"00332387"	"00000"	"Familial, autosomal recessive"	"0y9m"	"Roving nystagmus; atropic macula; oculodigital sign; ERG extinguished"	""	""	""	""	""	""	""	""	"LCA"	"Leber congenital amaurosis"	""
"0000250647"	"04214"	"00332463"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"LCA"	""
"0000252126"	"04214"	"00333941"	"00000"	"Familial, autosomal recessive"	"20y"	"clinical category IA2a"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000252137"	"04214"	"00333952"	"00000"	"Familial, autosomal recessive"	"54y"	"clinical category IA2b"	""	""	""	""	""	""	""	""	""	"severe early childhood onset retinal dystrophy with macular hypoplasia and congenital cataracts"	""
"0000252138"	"04214"	"00333953"	"00000"	"Familial, autosomal recessive"	"3y"	"clinical category IA2b"	""	""	""	""	""	""	""	""	""	"severe early childhood onset retinal dystrophy"	""
"0000252139"	"04214"	"00333954"	"00000"	"Familial, autosomal recessive"	"18y"	"clinical category IA2b"	""	""	""	""	""	""	""	""	""	"severe early childhood onset retinal dystrophy"	""
"0000254166"	"04214"	"00358906"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254167"	"04214"	"00358907"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254168"	"04214"	"00358908"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254169"	"04214"	"00358909"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254170"	"04214"	"00358910"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000254648"	"04214"	"00359377"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000267793"	"04214"	"00372478"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267794"	"04214"	"00372479"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000267795"	"04214"	"00372480"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000269102"	"04214"	"00373893"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000269107"	"04214"	"00373898"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000269109"	"04214"	"00373900"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000269110"	"04214"	"00373901"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000272076"	"04214"	"00376865"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000272668"	"04214"	"00377518"	"00000"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000272684"	"04214"	"00377534"	"00000"	"Isolated (sporadic)"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000272694"	"04214"	"00377544"	"00000"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000273160"	"04210"	"00378013"	"03508"	"Familial, autosomal recessive"	""	"HP:0001141, HP:0000639, HP:0001483, HP:0003745"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000273161"	"04210"	"00378014"	"03508"	"Familial, autosomal recessive"	""	"HP:0001141, HP:0000639, HP:0001483, HP:0003745"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000273203"	"04210"	"00378061"	"03508"	"Familial, autosomal recessive"	""	"HP:0032122, HP:0001129, HP:0000639, HP:0001483, HP:0000007"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000273478"	"04210"	"00379634"	"03508"	"Familial, autosomal recessive"	""	"HP:0001483, HP:0001263, HP:0032122, HP:0000007, HP:0000639"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000273504"	"04210"	"00379660"	"03508"	"Familial, autosomal recessive"	""	"HP:0001483,\tHP:0000007,\tHP:0001141,\tHP:0000639,\tHP:0007401"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000273702"	"04214"	"00379848"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000273975"	"00112"	"00380095"	"03508"	"Familial, autosomal recessive"	""	"HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0000551,\tHP:0000510"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000274894"	"04214"	"00381043"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275027"	"04214"	"00381176"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275641"	"04214"	"00381799"	"00000"	"Familial, autosomal recessive"	"46y"	""	"1y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275783"	"04214"	"00381941"	"00000"	"Familial, autosomal recessive"	"48y"	"BCVA OD-OS:light perception; nystagmus; strabismus"	"0m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000278236"	"04214"	"00384451"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinoschisis?"	""
"0000278878"	"04214"	"00385094"	"00000"	"Isolated (sporadic)"	"6m"	"no nystagmus, oculodigital sign, best corrected visual acuity right/left eye: NA"	"4m"	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000280506"	"04214"	"00386706"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000281758"	"04214"	"00388165"	"00000"	"Unknown"	"1y5m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Macular coloboma like degeneration & Pigmentary change at periphery, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281759"	"04214"	"00388166"	"00000"	"Unknown"	"6m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Macular coloboma like degeneration, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281760"	"04214"	"00388167"	"00000"	"Unknown"	"4y2m"	"Nystagmus: 1-2Hz pendular nystagmus, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Macular coloboma like degeneration, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281761"	"04214"	"00388168"	"00000"	"Unknown"	"6y4m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: LP+/LP+, fundus: Pigmentary changes & Macular atrophy, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281762"	"04214"	"00388169"	"00000"	"Unknown"	"1y2m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Macular coloboma like degeneration, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281763"	"04214"	"00388170"	"00000"	"Unknown"	"1y5m"	"Nystagmus: LBJ multidirectional, best corrected visual acuity right eye/left eye: LP+/LP+, fundus: Extensive degeneration at macula, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281764"	"04214"	"00388171"	"00000"	"Unknown"	"6m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: LP+/LP+, fundus: Pigmentary retinopathy & Geographic atrophy at macula, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281765"	"04214"	"00388172"	"00000"	"Unknown"	"10m"	"Nystagmus: Left upward beating jerk, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Macular coloboma like degeneration , ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000281766"	"04214"	"00388173"	"00000"	"Unknown"	"1y4m"	"Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Extensive macular coloboma like degeneration, ERG: Extinguished"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000282035"	"04214"	"00388483"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"early onset retinal dystrophy or Leber congenital amaurosis (eoRD/LCA)"	""
"0000282563"	"04214"	"00389022"	"00000"	"Familial, autosomal recessive"	"61y"	"age at genetic diagnosis mentioned"	""	"56y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282603"	"04214"	"00389062"	"00000"	"Familial, autosomal recessive"	"20y"	"age at genetic diagnosis mentioned"	""	"17y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282629"	"04214"	"00389088"	"00000"	"Familial, autosomal recessive"	"6y"	"age at genetic diagnosis mentioned"	""	"3y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000282726"	"04214"	"00389185"	"00000"	"Familial, autosomal recessive"	"1y"	"age at genetic diagnosis mentioned"	""	"0y"	""	""	""	""	""	""	"Leber congenital amaurosis"	""	""
"0000283317"	"04214"	"00389776"	"00000"	"Familial, autosomal recessive"	"58y"	"age at genetic diagnosis mentioned"	""	"53y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000283318"	"04214"	"00389777"	"00000"	"Familial, autosomal recessive"	"51y"	"age at genetic diagnosis mentioned"	""	"46y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000283564"	"04214"	"00390024"	"00000"	"Unknown"	"1y2m"	"Pale optic disk, retina hypopigmentation, macular dystrophy scars, left eye peripheral coloboma, highly altered fundus"	""	""	""	""	""	""	""	""	"Retinal dystrophy"	""	""
"0000283569"	"04214"	"00390029"	"00000"	"Unknown"	""	"Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus"	""	""	""	""	""	""	""	""	"Retinal dystrophy"	""	""
"0000283857"	"04214"	"00390319"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283858"	"04214"	"00390320"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283859"	"04214"	"00390321"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284001"	"05611"	"00390463"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Neurological and Developmental Disorders"	""
"0000284219"	"04214"	"00390731"	"00000"	"Familial, autosomal recessive"	"21y"	"Visual acuity right eye/left eye: 7/10_6/10, few bone spicule shaped pigment deposits and white dot deposits in the mid periphery narrowing of the vessels. waxy optic discs, normal macula"	"5y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000284220"	"04214"	"00390732"	"00000"	"Familial, autosomal recessive"	"23y"	"Visual acuity right eye/left eye: 5/10_5/10, few bone spicule shaped pigment deposits and white dot deposits in the mid periphery hyperplasia of the RPE"	"5y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000284916"	"04214"	"00391580"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000284990"	"04214"	"00391665"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284991"	"04214"	"00391666"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: hand movement"	"3m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284992"	"04214"	"00391667"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284993"	"04214"	"00391668"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"4m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284994"	"04214"	"00391669"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"3m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284995"	"04214"	"00391670"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: no light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284996"	"04214"	"00391671"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: light perception"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000285841"	"04214"	"00392594"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	"retinitis pigmentosa"	""
"0000285868"	"04214"	"00392621"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000286814"	"04214"	"00393608"	"00000"	"Isolated (sporadic)"	"21y"	""	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis (LCA)"	""
"0000289050"	"04214"	"00395888"	"00000"	"Unknown"	"26y4m"	""	"5y"	""	""	""	""	""	""	""	"Congenital stationary night blindness"	""	""
"0000289378"	"04214"	"00396216"	"00000"	"Familial, autosomal recessive"	"10y"	"2 month: nystagmus, oculo-digital sign, photophobia,no fixation, nopacing, no eye contact"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000289388"	"04214"	"00396226"	"00000"	"Familial, autosomal recessive"	"15y"	"3 months: nystagmus, strabismus"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000300955"	"04214"	"00408835"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300956"	"04214"	"00408836"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300970"	"04214"	"00408852"	"00000"	"Familial, autosomal recessive"	""	"intellectual disability"	""	""	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300971"	"04214"	"00408853"	"00000"	"Familial, autosomal recessive"	"23y"	"VA: Light perception, macular atrophy, Peripheral pigmentation, Subcapsular cataract LE>RE"	""	"4m"	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300972"	"04214"	"00408854"	"00000"	"Familial, autosomal recessive"	"25y"	"VA: Light perception, macular atrophy, Macular pseudo- coloboma, large atrophic optic discs, attenuated vessels, RPE-atrophy and mild pigmentary changes in periphery"	""	"6m"	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300973"	"04214"	"00408855"	"00000"	"Familial, autosomal recessive"	"7y"	"VA: 2/60, macular atrophy, Macular pseudocolo- boma with hyperpig- mented border, pink optic discs, subtle RPE changes in periphery"	""	"6m"	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300974"	"04214"	"00408856"	"00000"	"Familial, autosomal recessive"	"2y"	"VA: Light perception, macular atrophy, Abnormal pigmenta- tion of the macula at diagnosis, RPE changes in periphery; macular atrophy at age 2"	""	"4m"	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300975"	"04214"	"00408857"	"00000"	"Familial, autosomal recessive"	"64y"	"VA: No light perception, Temporal parapapillary chorioretinal lacunar atro- phies, heavy pigmentations in periphery, Keratoconus in both eyes, RE enucleated due to corneal pain"	""	"12m"	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300976"	"04214"	"00408858"	"00000"	"Familial, autosomal recessive"	"16y"	"VA: Light perception, macular atrophy, Periphery normal"	""	"18m"	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300977"	"04214"	"00408859"	"00000"	"Familial, autosomal recessive"	"72y"	"VA: RE: Light perception LE: Hand movements, panretinal chorio- retinal atrophy, Pallor of the optic disc, severely attenuated vessels, abundant pigmentations in midperiphery and macula, RE: aphakia and corneal edema after cataract extraction LE: IOL"	""	"<8y"	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300978"	"04214"	"00408860"	"00000"	"Familial, autosomal recessive"	"24y"	"LE: no light perception, macular atrophy"	""	""	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300979"	"04214"	"00408861"	"00000"	"Familial, autosomal recessive"	"10y"	"No light perception"	""	""	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300980"	"04214"	"00408862"	"00000"	"Familial, autosomal recessive"	""	"severe visual impairment, nystagmus, central atrophy of the pigment epithelium, and pigment clumping in the periphery before the age of 6 months. Retinal vessels were attenuated, hyperopic."	""	"5m"	"rotatory nystagmus, normal anterior segments, and weak pupillary reaction to light."	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300981"	"04214"	"00408863"	"00000"	"Familial, autosomal recessive"	""	"severe visual impairment, nystagmus, central atrophy of the pigment epithelium, and pigment clumping in the periphery before the age of 6 months. Retinal vessels were attenuated, hyperopic."	""	"1m"	"chorioretinal atrophy"	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300982"	"04214"	"00408864"	"00000"	"Familial, autosomal recessive"	"13y"	"13y: 4/200 vision in either eye, eccentric fixation, moderate exotropia, and pendular nystagmus with small amplitude and high frequency. Cycloplegic refraction was +6.00, +6.00. Depressed and delayed rod response and cone responses, more so of cones than rods"	""	""	"worsening visual acuity since early childhood"	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300983"	"04214"	"00408865"	"00000"	"Familial, autosomal recessive"	"10y"	"no apparent difference in day/night vision. Vision was 2//200 in either eye with eccentric fixation, moderate exotropia, small amplitude high frequency pendular nystagmus. Cycloplegic refraction was +4.25, +6.25-2.00x180"	"<2y"	""	"impaired vision"	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000300984"	"04214"	"00408866"	"00000"	"Unknown"	"26y"	"BCVA:6/45-1; N36, RE:6/120; LE:N48. Refractive error was ?3.00 / +2.75 × 45, right and ?3.50 / +3.00 × 115, left. Bilateral coloboma-like macular atrophic changes with the retinal atrophy extending nasal to the optic disc. Fundus autofluorescence macular hypoautofluorescence associated with the macular lesions, surrounded by a ring of hyperautofluorescence"	"4y"	""	"“bull’s eye” macular changes and a provisional diagnosis of CD"	""	""	""	""	""	""	"Cone dystrophy (CD)"	""
"0000300985"	"04214"	"00408867"	"00000"	"Unknown"	"14y"	"BCVA:6/120 bilaterally, hypoautofluorescent and surrounded by a ring of hyperautofluorescence. OCT showed the loss of the photoreceptor layer in the region of the macular atrophy"	"7y"	""	"BCVA:6/90 bilaterally. Refraction was +0.50/+1.00×10 RE and +1.50/+1.00×130 LE. Granular atrophic lesions involving the macula and atrophy nasal to the optic disc were present in both eyes."	""	""	""	""	""	""	"Cone-rod dystrophy (CRD)"	""
"0000300986"	"04214"	"00408868"	"00000"	"Familial, autosomal recessive"	""	"early onset retinal degeneration, diagnosed as LCA, sensorineural hearing loss, short stature due to a spondylo-epiphyseal dysplasia, developmental delay, and brain magnetic resonance imaging (MRI) abnormalities including delayed myelinization, white matter hyperintensity, and cerebellar hypoplasia; developmental delay, vision loss, and ataxia. 5y: BCVA: light perception. Optic disc pallor, marked attenuation of retinal vessels, widespread retinal pigment epithelium dystrophy and macular coloboma, complete bilateral cataract; orthophoric, etc (see paper)"	"1m"	""	"lack of visual tracking and nystagmus"	""	""	""	""	""	""	"severe spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA)"	""
"0000300987"	"04214"	"00408869"	"00000"	"Familial, autosomal recessive"	""	"early onset retinal degeneration, diagnosed as LCA, sensorineural hearing loss, short stature due to a spondylo-epiphyseal dysplasia, developmental delay, and brain magnetic resonance imaging (MRI) abnormalities including delayed myelinization, white matter hyperintensity, and cerebellar hypoplasia; developmental delay, vision loss, and ataxia; exotropia, etc (see paper)"	"1m"	""	"lack of visual tracking and nystagmus"	""	""	""	""	""	""	"severe spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA)"	""
"0000300988"	"04214"	"00408870"	"00000"	"Familial, autosomal recessive"	""	"5y: sensorineural hearing loss. 13y: growth defect, spondylo-epiphyseal dysplasia and severe cognitive impairment; hypomyelinating leukoencephalopathy, cerebral and cerebellar atrophy. 15y: progressive loss of motor skills, attributed to cervical myelopathy due to both reduced caliber of foramen magnum and os odontoideum causing atlanto-occipital instability"	"1y"	""	"exotropia and developmental delay"	""	""	""	""	""	""	"severe spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA)"	""
"0000310989"	"04214"	"00419709"	"04405"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000311657"	"04214"	"00420409"	"00000"	"Familial, autosomal recessive"	"26y4m"	""	"5y"	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000320844"	"00112"	"00429972"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320851"	"00112"	"00429979"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320907"	"04210"	"00430035"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000326752"	"04210"	"00436605"	"04552"	"Familial, autosomal recessive"	"01y"	"Blindness HP:0000618, Retinitis pigmentosa HP:0000510"	"00y03m"	"06y"	""	""	""	""	""	""	"# 608553"	""	""
"0000331078"	"04210"	"00441663"	"04542"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000336458"	"00198"	"00447259"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336796"	"00198"	"00447597"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000339944"	"04249"	"00450889"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339945"	"04249"	"00450890"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339946"	"04249"	"00450891"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339947"	"04249"	"00450892"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy (AR)"	""
"0000340206"	"00198"	"00451531"	"04543"	"Familial, autosomal recessive"	"45y"	"no night vision; no perception light; no nystagmus; bilateral corneal haze; no photophobia"	"<1y"	""	""	""	""	""	""	""	"LCA9"	"Leber congenital amaurosis"	""
"0000340207"	"00198"	"00451532"	"04543"	"Familial, autosomal recessive"	"19y"	"no night vision; no perception light; no nystagmus; bilateral corneal haze; no photophobia"	"<1y"	""	""	""	""	""	""	""	"LCA9"	"Leber congenital amaurosis"	""
"0000340208"	"00198"	"00451533"	"04543"	"Familial, autosomal recessive"	"25y"	"no night vision; no perception light; no nystagmus; bilateral corneal haze; no photophobia"	"<1y"	""	""	""	""	""	""	""	"LCA9"	"Leber congenital amaurosis"	""
"0000340209"	"00198"	"00451534"	"04543"	"Familial, autosomal recessive"	"17y"	"no night vision; no perception light; no nystagmus; no corneal haze; no photophobia"	"<1y"	""	""	""	""	""	""	""	"LCA9"	"Leber congenital amaurosis"	""
"0000340210"	"00198"	"00451535"	"04543"	"Familial, autosomal recessive"	"22y"	"no night vision; no perception light; no nystagmus; no corneal haze; no photophobia"	"<1y"	""	""	""	""	""	""	""	"LCA9"	"Leber congenital amaurosis"	""
"0000350628"	"04214"	"00464638"	"02230"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"LCA9"	""	""
"0000350629"	"04214"	"00464639"	"02230"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"LCA9"	""	""
"0000350630"	"04214"	"00464640"	"02230"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"LCA9"	""	""
"0000350631"	"04214"	"00464641"	"02230"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"LCA9"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 219
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000002933"	"00003027"	"1"	"00130"	"00008"	"2013-10-02 12:38:49"	""	""	"SEQ"	"DNA"	""	""
"0000032788"	"00032720"	"1"	"00243"	"00243"	"2015-02-25 10:45:40"	"00006"	"2015-02-25 21:06:56"	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000032789"	"00032721"	"1"	"00243"	"00243"	"2015-02-25 10:57:28"	"00006"	"2015-02-25 21:05:20"	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000046440"	"00046335"	"1"	"01352"	"01352"	"2015-07-07 10:18:20"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000046441"	"00046336"	"1"	"01352"	"01352"	"2015-07-07 10:50:26"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000046603"	"00046498"	"1"	"01352"	"01352"	"2015-07-14 14:09:16"	""	""	"DSDI"	"DNA"	""	""
"0000046604"	"00046499"	"1"	"01352"	"01352"	"2015-07-14 14:17:37"	""	""	"DSDI"	"DNA"	""	""
"0000046605"	"00046501"	"1"	"01352"	"01352"	"2015-07-14 14:30:05"	""	""	"SEQ"	"DNA"	""	""
"0000046606"	"00046502"	"1"	"01352"	"01352"	"2015-07-14 14:38:40"	""	""	"SEQ"	"DNA"	""	""
"0000046607"	"00046503"	"1"	"01352"	"01352"	"2015-07-14 14:46:16"	""	""	"SEQ"	"DNA"	""	""
"0000046609"	"00046505"	"1"	"01352"	"01352"	"2015-07-14 14:55:00"	""	""	"SEQ"	"DNA"	""	""
"0000046610"	"00046506"	"1"	"01352"	"01352"	"2015-07-14 14:57:15"	""	""	"SEQ"	"DNA"	""	""
"0000046691"	"00046582"	"1"	"00006"	"00006"	"2015-07-19 22:03:51"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	""
"0000046692"	"00046583"	"1"	"00006"	"00006"	"2015-07-19 22:03:51"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	""
"0000046693"	"00046584"	"1"	"00006"	"00006"	"2015-07-19 22:03:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000046694"	"00046585"	"1"	"00006"	"00006"	"2015-07-19 22:03:51"	""	""	"SEQ"	"DNA"	""	""
"0000046695"	"00046586"	"1"	"00006"	"00006"	"2015-07-19 22:03:51"	""	""	"SEQ"	"DNA"	""	""
"0000046696"	"00046587"	"1"	"00006"	"00006"	"2015-07-19 22:03:51"	""	""	"SEQ"	"DNA"	""	""
"0000046697"	"00046588"	"1"	"00006"	"00006"	"2015-07-19 22:03:51"	""	""	"SEQ"	"DNA"	""	""
"0000046698"	"00046589"	"1"	"00006"	"00006"	"2015-07-19 22:03:51"	""	""	"SEQ"	"DNA"	""	""
"0000046720"	"00046611"	"1"	"00006"	"00006"	"2015-07-21 21:22:09"	""	""	"SEQ"	"DNA"	""	""
"0000046721"	"00046612"	"1"	"00006"	"00006"	"2015-07-21 21:28:58"	""	""	"SEQ"	"DNA"	""	""
"0000046722"	"00046613"	"1"	"00006"	"00006"	"2015-07-21 21:32:52"	""	""	"SEQ"	"DNA"	""	""
"0000046723"	"00046614"	"1"	"00006"	"00006"	"2015-07-21 21:41:20"	""	""	"SEQ"	"DNA"	""	""
"0000046913"	"00046804"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046914"	"00046805"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046915"	"00046806"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046916"	"00046807"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046917"	"00046808"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046918"	"00046809"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046919"	"00046810"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046920"	"00046811"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046921"	"00046812"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046922"	"00046813"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046923"	"00046814"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046924"	"00046815"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046925"	"00046816"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046926"	"00046817"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046927"	"00046818"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046928"	"00046819"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046929"	"00046820"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046930"	"00046821"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046931"	"00046822"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046932"	"00046823"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046933"	"00046824"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046934"	"00046825"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046935"	"00046826"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046936"	"00046827"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046937"	"00046828"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046938"	"00046829"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046939"	"00046830"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046940"	"00046831"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046941"	"00046832"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046942"	"00046833"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046943"	"00046834"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046944"	"00046835"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046945"	"00046836"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046946"	"00046837"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046947"	"00046838"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046948"	"00046839"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046949"	"00046840"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046950"	"00046841"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046951"	"00046842"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046952"	"00046843"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046953"	"00046844"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000046954"	"00046845"	"1"	"00006"	"00006"	"2015-07-25 19:19:47"	""	""	"SEQ"	"DNA"	""	""
"0000145015"	"00144156"	"1"	"01780"	"00006"	"2017-11-28 22:45:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000208734"	"00207693"	"1"	"01244"	"01244"	"2018-11-28 15:14:41"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000270729"	"00269573"	"1"	"03508"	"03508"	"2019-12-01 03:52:54"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270730"	"00269574"	"1"	"03508"	"03508"	"2019-12-01 04:05:22"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270731"	"00269575"	"1"	"03508"	"03508"	"2019-12-01 04:12:07"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000270732"	"00269576"	"1"	"03508"	"03508"	"2019-12-01 04:19:43"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000270733"	"00269577"	"1"	"03508"	"03508"	"2019-12-01 05:01:05"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270734"	"00269578"	"1"	"03508"	"03508"	"2019-12-01 05:03:48"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270736"	"00269579"	"1"	"03508"	"03508"	"2019-12-01 05:07:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270737"	"00269580"	"1"	"03508"	"03508"	"2019-12-01 05:12:50"	""	""	"SEQ-NG"	"DNA"	"blood"	"Targeted gene panel"
"0000270738"	"00269581"	"1"	"03508"	"03508"	"2019-12-01 06:10:56"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000290627"	"00289459"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000309551"	"00308407"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000309552"	"00308408"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000309669"	"00308524"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000310387"	"00309242"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000326731"	"00325520"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000329185"	"00327970"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329235"	"00328020"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329358"	"00328143"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000333492"	"00332272"	"1"	"00000"	"00006"	"2021-02-16 17:14:33"	""	""	"SEQ-NG"	"DNA"	""	"300-gene panel"
"0000333591"	"00332368"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333592"	"00332369"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333593"	"00332370"	"1"	"00000"	"00006"	"2021-02-17 18:00:14"	""	""	"SEQ"	"DNA"	""	""
"0000333609"	"00332385"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333610"	"00332386"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333611"	"00332387"	"1"	"00000"	"00006"	"2021-02-18 13:23:10"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333687"	"00332463"	"1"	"00000"	"00006"	"2021-02-19 15:15:03"	""	""	"SEQ-NG"	"DNA"	""	"150-gene panel"
"0000335167"	"00333941"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335178"	"00333952"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335179"	"00333953"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335180"	"00333954"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336674"	"00335445"	"1"	"00006"	"00006"	"2021-03-05 16:35:10"	""	""	"SEQ-NG"	"DNA"	""	"283-gene panel"
"0000360139"	"00358906"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360140"	"00358907"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360141"	"00358908"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360142"	"00358909"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360143"	"00358910"	"1"	"00000"	"00006"	"2021-03-17 09:43:06"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360619"	"00359377"	"1"	"00000"	"00006"	"2021-03-19 18:50:51"	""	""	"SEQ-NG"	"DNA"	""	"64-gene panel"
"0000373711"	"00372478"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373712"	"00372479"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000373713"	"00372480"	"1"	"00000"	"00006"	"2021-05-08 09:43:10"	""	""	"SEQ-NG"	"DNA"	""	"163-gene panel"
"0000375125"	"00373893"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000375130"	"00373898"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000375132"	"00373900"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000375133"	"00373901"	"1"	"00000"	"00006"	"2021-05-21 15:01:30"	""	""	"SEQ-NG"	"DNA"	""	"238-gene panel"
"0000378070"	"00376865"	"1"	"00000"	"00006"	"2021-06-25 17:40:07"	""	""	"SEQ"	"DNA"	""	"WES"
"0000378721"	"00377518"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing"
"0000378737"	"00377534"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing"
"0000378747"	"00377544"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing"
"0000379218"	"00378014"	"1"	"03508"	"03508"	"2021-08-03 03:50:33"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000379258"	"00378013"	"1"	"03508"	"03508"	"2021-08-04 05:28:16"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000379262"	"00378061"	"1"	"03508"	"03508"	"2021-08-04 07:49:39"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000380833"	"00379634"	"1"	"03508"	"03508"	"2021-08-06 04:05:13"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000380860"	"00379660"	"1"	"03508"	"03508"	"2021-08-06 07:54:30"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381050"	"00379848"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000381322"	"00380095"	"1"	"03508"	"03508"	"2021-08-10 09:33:27"	"03508"	"2021-08-10 10:19:08"	"SEQ-NG-I"	"DNA"	""	""
"0000382257"	"00381043"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382391"	"00381176"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	"Exome Sequencing"
"0000383015"	"00381799"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000383157"	"00381941"	"1"	"00000"	"03840"	"2021-09-06 14:12:14"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000385676"	"00384451"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000386323"	"00385094"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000387934"	"00386706"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000389404"	"00388165"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389405"	"00388166"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389406"	"00388167"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389407"	"00388168"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389408"	"00388169"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389409"	"00388170"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389410"	"00388171"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389411"	"00388172"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389412"	"00388173"	"1"	"00000"	"03840"	"2021-11-02 11:59:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing"
"0000389724"	"00388483"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"CNV gene panel next-generation sequencing"
"0000390265"	"00389022"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000390305"	"00389062"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390331"	"00389088"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390428"	"00389185"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391019"	"00389776"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000391020"	"00389777"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000391265"	"00390024"	"1"	"00000"	"03840"	"2021-11-08 12:01:50"	""	""	"SEQ-NG"	"DNA"	""	"targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000391270"	"00390029"	"1"	"00000"	"03840"	"2021-11-08 12:01:50"	""	""	"arrayCGH"	"DNA"	""	"targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000391560"	"00390319"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391561"	"00390320"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391562"	"00390321"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391704"	"00390463"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391972"	"00390731"	"1"	"00000"	"03840"	"2021-11-11 19:27:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000391973"	"00390732"	"1"	"00000"	"03840"	"2021-11-11 19:27:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392822"	"00391580"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000392906"	"00391665"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392907"	"00391666"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392908"	"00391667"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392909"	"00391668"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392910"	"00391669"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392911"	"00391670"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392912"	"00391671"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000393841"	"00392594"	"1"	"00000"	"03840"	"2021-11-23 15:06:01"	""	""	"SEQ-NG-I;SEQ"	"DNA"	""	"whole exome sequencing"
"0000393868"	"00392621"	"1"	"00000"	"03840"	"2021-11-23 15:06:01"	""	""	"SEQ-NG-I;SEQ"	"DNA"	""	"whole exome sequencing"
"0000394856"	"00393608"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000397127"	"00395888"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397457"	"00396216"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"arraySNP;SEQ-NG"	"DNA"	""	""
"0000397467"	"00396226"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"SEQ-NG"	"DNA"	""	""
"0000410100"	"00408835"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;PCR"	"DNA"	"leukocytes"	""
"0000410101"	"00408836"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;PCR"	"DNA"	"leukocytes"	""
"0000410116"	"00408851"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"?"	"DNA"	""	""
"0000410117"	"00408852"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"?"	"DNA"	""	"exome sequencing"
"0000410118"	"00408853"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;PCR"	"DNA"	"peripheral blood"	""
"0000410119"	"00408854"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;PCR"	"DNA"	"peripheral blood"	""
"0000410120"	"00408855"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;PCR"	"DNA"	"peripheral blood"	""
"0000410121"	"00408856"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;PCR"	"DNA"	"peripheral blood"	""
"0000410122"	"00408857"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;PCR"	"DNA"	"peripheral blood"	""
"0000410123"	"00408858"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;PCR"	"DNA"	"peripheral blood"	""
"0000410124"	"00408859"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;PCR"	"DNA"	"peripheral blood"	""
"0000410125"	"00408860"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000410126"	"00408861"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000410127"	"00408862"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	"Whole exome sequencing"
"0000410128"	"00408863"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000410129"	"00408864"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	"WES, Targeted NGS"
"0000410130"	"00408865"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000410131"	"00408866"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000410132"	"00408867"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000410133"	"00408868"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;SEQ-NG;RT-PCR"	"RNA;DNA"	"peripheral white blood cells"	"WGS"
"0000410134"	"00408869"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;SEQ-NG;RT-PCR"	"RNA;DNA"	"peripheral white blood cells"	"WGS"
"0000410135"	"00408870"	"1"	"00000"	"00008"	"2022-04-29 01:04:01"	""	""	"SEQ;RT-PCR"	"RNA;DNA"	"peripheral white blood cells"	""
"0000421014"	"00419709"	"1"	"04405"	"00006"	"2022-10-21 12:50:15"	""	""	"MIPsm"	"DNA"	""	"smMIPs 105 iMD/AMD genes"
"0000421718"	"00420409"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000431385"	"00429972"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431392"	"00429979"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431448"	"00430035"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000438089"	"00436605"	"1"	"04552"	"04552"	"2023-09-23 05:05:58"	""	""	"SEQ-NG-I"	"DNA"	"Buccal swab"	""
"0000443149"	"00441663"	"1"	"04542"	"00008"	"2023-11-09 09:55:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"Published as WGS"
"0000448836"	"00447259"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449174"	"00447597"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000452487"	"00450889"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452488"	"00450890"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452489"	"00450891"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452490"	"00450892"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452663"	"00451064"	"1"	"00006"	"00006"	"2024-05-31 11:39:36"	""	""	"SEQ"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452675"	"00451076"	"1"	"00006"	"00006"	"2024-05-31 11:39:36"	""	""	"SEQ"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452689"	"00451090"	"1"	"00006"	"00006"	"2024-05-31 11:39:36"	""	""	"SEQ"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452716"	"00451117"	"1"	"00006"	"00006"	"2024-05-31 11:39:36"	""	""	"SEQ"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452819"	"00451220"	"1"	"00006"	"00006"	"2024-05-31 11:39:36"	""	""	"SEQ"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000453132"	"00451531"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs"
"0000453133"	"00451532"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs"
"0000453134"	"00451533"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs"
"0000453135"	"00451534"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs"
"0000453136"	"00451535"	"1"	"04543"	"00006"	"2024-06-10 15:00:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIPs"
"0000466284"	"00464638"	"1"	"02230"	"00006"	"2025-04-07 14:25:36"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	"blood"	"WES, targeted long-read cDNA sequencing"
"0000466285"	"00464639"	"1"	"02230"	"00006"	"2025-04-07 14:25:36"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	"blood"	"targeted long-read cDNA sequencing, long-read WGS"
"0000466286"	"00464640"	"1"	"02230"	"00006"	"2025-04-07 14:25:36"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	"blood"	"WES, targeted long-read cDNA sequencing"
"0000466287"	"00464641"	"1"	"02230"	"00006"	"2025-04-07 14:25:36"	""	""	"SEQ;MIPsm"	"DNA"	"blood"	""
"0000466288"	"00464642"	"1"	"02230"	"00006"	"2025-04-07 15:12:01"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	""
"0000466289"	"00464643"	"1"	"00006"	"00006"	"2025-04-07 15:17:50"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;protein"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 174
"{{screeningid}}"	"{{geneid}}"
"0000002933"	"NMNAT1"
"0000032788"	"NMNAT1"
"0000032789"	"NMNAT1"
"0000046603"	"NMNAT1"
"0000046604"	"NMNAT1"
"0000046605"	"NMNAT1"
"0000046606"	"NMNAT1"
"0000046607"	"NMNAT1"
"0000046609"	"NMNAT1"
"0000046610"	"NMNAT1"
"0000046691"	"NMNAT1"
"0000046692"	"NMNAT1"
"0000046693"	"NMNAT1"
"0000046694"	"NMNAT1"
"0000046695"	"NMNAT1"
"0000046696"	"NMNAT1"
"0000046697"	"NMNAT1"
"0000046698"	"NMNAT1"
"0000046720"	"GJB2"
"0000046720"	"NMNAT1"
"0000046721"	"NMNAT1"
"0000046722"	"NMNAT1"
"0000046723"	"NMNAT1"
"0000046913"	"NMNAT1"
"0000046914"	"NMNAT1"
"0000046915"	"NMNAT1"
"0000046916"	"NMNAT1"
"0000046917"	"NMNAT1"
"0000046918"	"NMNAT1"
"0000046919"	"NMNAT1"
"0000046920"	"NMNAT1"
"0000046921"	"NMNAT1"
"0000046922"	"NMNAT1"
"0000046923"	"NMNAT1"
"0000046924"	"NMNAT1"
"0000046925"	"NMNAT1"
"0000046926"	"NMNAT1"
"0000046927"	"NMNAT1"
"0000046928"	"NMNAT1"
"0000046929"	"NMNAT1"
"0000046930"	"NMNAT1"
"0000046931"	"NMNAT1"
"0000046932"	"NMNAT1"
"0000046933"	"NMNAT1"
"0000046934"	"NMNAT1"
"0000046935"	"NMNAT1"
"0000046936"	"NMNAT1"
"0000046937"	"NMNAT1"
"0000046938"	"NMNAT1"
"0000046939"	"NMNAT1"
"0000046940"	"NMNAT1"
"0000046941"	"NMNAT1"
"0000046942"	"NMNAT1"
"0000046943"	"NMNAT1"
"0000046944"	"NMNAT1"
"0000046945"	"NMNAT1"
"0000046946"	"NMNAT1"
"0000046947"	"NMNAT1"
"0000046948"	"NMNAT1"
"0000046949"	"NMNAT1"
"0000046950"	"NMNAT1"
"0000046951"	"NMNAT1"
"0000046952"	"NMNAT1"
"0000046953"	"NMNAT1"
"0000046954"	"NMNAT1"
"0000145015"	"EYS"
"0000309551"	"NMNAT1"
"0000309552"	"NMNAT1"
"0000309669"	"NMNAT1"
"0000310387"	"NMNAT1"
"0000326731"	"HGSNAT"
"0000329185"	"NMNAT1"
"0000329235"	"NMNAT1"
"0000329358"	"NMNAT1"
"0000333492"	"NMNAT1"
"0000333591"	"NMNAT1"
"0000333592"	"NMNAT1"
"0000333593"	"NMNAT1"
"0000333609"	"NMNAT1"
"0000333610"	"NMNAT1"
"0000333611"	"NMNAT1"
"0000333687"	"NMNAT1"
"0000335167"	"NMNAT1"
"0000335178"	"NMNAT1"
"0000335179"	"NMNAT1"
"0000335180"	"NMNAT1"
"0000336674"	"NMNAT1"
"0000360139"	"NMNAT1"
"0000360140"	"NMNAT1"
"0000360141"	"NMNAT1"
"0000360142"	"NMNAT1"
"0000360143"	"NMNAT1"
"0000373711"	"NMNAT1"
"0000373712"	"NMNAT1"
"0000373713"	"NMNAT1"
"0000375125"	"NMNAT1"
"0000375130"	"NMNAT1"
"0000375132"	"NMNAT1"
"0000375133"	"NMNAT1"
"0000381050"	"NMNAT1"
"0000382257"	"USH2A"
"0000382391"	"NMNAT1"
"0000383015"	"NMNAT1"
"0000385676"	"NMNAT1"
"0000386323"	"NMNAT1"
"0000387934"	"NMNAT1"
"0000389404"	"NMNAT1"
"0000389405"	"NMNAT1"
"0000389406"	"NMNAT1"
"0000389407"	"NMNAT1"
"0000389408"	"NMNAT1"
"0000389409"	"NMNAT1"
"0000389410"	"NMNAT1"
"0000389411"	"NMNAT1"
"0000389412"	"NMNAT1"
"0000389724"	"NMNAT1"
"0000390265"	"NMNAT1"
"0000390305"	"NMNAT1"
"0000390331"	"NMNAT1"
"0000390428"	"NMNAT1"
"0000391019"	"NMNAT1"
"0000391020"	"NMNAT1"
"0000391265"	"NMNAT1"
"0000391270"	"NMNAT1"
"0000391560"	"NMNAT1"
"0000391561"	"NMNAT1"
"0000391562"	"NMNAT1"
"0000391704"	"NMNAT1"
"0000391972"	"NMNAT1"
"0000391973"	"NMNAT1"
"0000392822"	"NMNAT1"
"0000392906"	"NMNAT1"
"0000392907"	"NMNAT1"
"0000392908"	"NMNAT1"
"0000392909"	"NMNAT1"
"0000392910"	"NMNAT1"
"0000392911"	"NMNAT1"
"0000392912"	"NMNAT1"
"0000393841"	"NMNAT1"
"0000393868"	"NMNAT1"
"0000394856"	"NMNAT1"
"0000397127"	"NMNAT1"
"0000397457"	"NMNAT1"
"0000397467"	"NMNAT1"
"0000410100"	"NMNAT1"
"0000410101"	"NMNAT1"
"0000410116"	"NMNAT1"
"0000410117"	"NMNAT1"
"0000410118"	"NMNAT1"
"0000410119"	"NMNAT1"
"0000410120"	"NMNAT1"
"0000410121"	"NMNAT1"
"0000410122"	"NMNAT1"
"0000410123"	"NMNAT1"
"0000410124"	"NMNAT1"
"0000410125"	"NMNAT1"
"0000410126"	"NMNAT1"
"0000410127"	"NMNAT1"
"0000410128"	"NMNAT1"
"0000410129"	"NMNAT1"
"0000410130"	"NMNAT1"
"0000410131"	"NMNAT1"
"0000410132"	"NMNAT1"
"0000410133"	"NMNAT1"
"0000410134"	"NMNAT1"
"0000410135"	"NMNAT1"
"0000421718"	"NMNAT1"
"0000431385"	"NMNAT1"
"0000431392"	"NMNAT1"
"0000431448"	"NMNAT1"
"0000438089"	"NMNAT1"
"0000443149"	"NMNAT1"
"0000466288"	"NMNAT1"
"0000466289"	"NMNAT1"


## 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 = 420
"{{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}}"
"0000021311"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00130"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Neveling 2013:24123792}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000021312"	"2"	"70"	"1"	"10042536"	"10042536"	"subst"	"0"	"00130"	"NMNAT1_000009"	"g.10042536A>G"	""	"{PMID:Neveling 2013:24123792}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.9982478A>G"	""	"likely pathogenic"	""
"0000058961"	"3"	"70"	"1"	"10032240"	"10032240"	"subst"	"0"	"00243"	"NMNAT1_000012"	"g.10032240G>A"	""	""	""	""	"not in 204 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.9972182G>A"	""	"likely pathogenic"	""
"0000058962"	"3"	"70"	"1"	"10032184"	"10032184"	"subst"	"1.62648E-5"	"00243"	"NMNAT1_000003"	"g.10032184A>G"	""	""	""	""	"not in 202 control chromosomes"	"Germline"	"no"	""	"0"	""	""	"g.9972126A>G"	""	"likely pathogenic"	""
"0000073964"	"3"	"70"	"1"	"10003560"	"10003560"	"subst"	"0"	"01352"	"NMNAT1_000015"	"g.10003560A>T"	""	"{PMID:Coppieters 2015:26316326}"	""	""	"reduced mRNA expression"	"Germline"	"yes"	""	"0"	""	""	"g.9943502A>T"	""	"likely pathogenic"	""
"0000073965"	"3"	"70"	"1"	"10003561"	"10003561"	"subst"	"0"	"01352"	"NMNAT1_000016"	"g.10003561C>T"	""	"{PMID:Coppieters 2015:26316326}"	""	""	"reduced RNA expression"	"Germline"	"yes"	""	"0"	""	""	"g.9943503C>T"	""	"likely pathogenic"	""
"0000074441"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"01352"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic"	""
"0000074442"	"21"	"70"	"1"	"10039763"	"10056271"	"del"	"0"	"01352"	"NMNAT1_000018"	"g.10039763_10056271del"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9979705_9996213del"	""	"likely pathogenic"	""
"0000074443"	"21"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"01352"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic"	""
"0000074444"	"11"	"70"	"1"	"10038285"	"10043034"	"del"	"0"	"01352"	"NMNAT1_000021"	"g.10038285_10043034del"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9978227_9982976del"	""	"likely pathogenic"	""
"0000074445"	"11"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"01352"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	"yes"	"rs150726175"	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000074446"	"21"	"70"	"1"	"10041153"	"10041153"	"del"	"0"	"01352"	"NMNAT1_000013"	"g.10041153del"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9981095del"	""	"likely pathogenic"	""
"0000074447"	"21"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"01352"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	"yes"	"rs150726175"	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000074448"	"11"	"70"	"1"	"10042461"	"10042461"	"subst"	"1.21836E-5"	"01352"	"NMNAT1_000014"	"g.10042461A>G"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982403A>G"	""	"likely pathogenic"	""
"0000074449"	"0"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"01352"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Unknown"	"?"	"rs150726175"	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000074451"	"0"	"70"	"1"	"10042598"	"10042598"	"subst"	"1.2187E-5"	"01352"	"NMNAT1_000020"	"g.10042598C>T"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.9982540C>T"	""	"likely pathogenic"	""
"0000074453"	"0"	"50"	"1"	"10042481"	"10042481"	"subst"	"4.06164E-6"	"01352"	"NMNAT1_000019"	"g.10042481C>T"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.9982423C>T"	""	"VUS"	""
"0000074454"	"0"	"50"	"1"	"10032184"	"10032184"	"subst"	"1.62648E-5"	"01352"	"NMNAT1_000003"	"g.10032184A>G"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.9972126A>G"	""	"VUS"	""
"0000074555"	"1"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}, {OMIM608700:0002}"	""	""	""	"Germline"	"yes"	"rs150726175"	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000074556"	"2"	"90"	"1"	"10042736"	"10042736"	"subst"	"4.11282E-6"	"00006"	"NMNAT1_000022"	"g.10042736A>G"	""	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}, {OMIM608700:0003}"	""	""	""	"Germline"	"yes"	"rs387907291"	"0"	""	""	"g.9982678A>G"	""	"pathogenic"	""
"0000074557"	"11"	"90"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00006"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}, {OMIM608700:0005}"	""	""	""	"Germline"	"yes"	"rs142968179"	"0"	""	""	"g.9982480C>T"	""	"pathogenic"	""
"0000074558"	"21"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}, {OMIM608700:0002}"	""	""	""	"Germline"	"yes"	"rs150726175"	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000074559"	"11"	"90"	"1"	"10042370"	"10042370"	"subst"	"0"	"00006"	"NMNAT1_000024"	"g.10042370G>A"	""	"{PMID:Koenekoop 2012:22842230}, {DOI:Koenekoop 2012:10.1038/ng.2356}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982312G>A"	""	"pathogenic"	""
"0000074560"	"21"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}, {OMIM608700:0002}"	""	""	""	"Germline"	"yes"	"rs150726175"	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000074561"	"3"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}, {OMIM608700:0002}"	""	""	""	"Germline"	"yes"	"rs150726175"	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000074562"	"1"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"00006"	"NMNAT1_000001"	"g.10042426G>A"	""	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}, {OMIM608700:0006}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982368G>A"	""	"pathogenic"	""
"0000074563"	"2"	"90"	"1"	"10042629"	"10042629"	"subst"	"4.06266E-6"	"00006"	"NMNAT1_000010"	"g.10042629G>T"	""	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}, {OMIM608700:00071}"	""	""	""	"Germline"	"yes"	"rs368062092"	"0"	""	""	"g.9982571G>T"	""	"pathogenic"	""
"0000074564"	"1"	"90"	"1"	"10035733"	"10035733"	"subst"	"8.12275E-6"	"00006"	"NMNAT1_000011"	"g.10035733G>T"	""	"{PMID:Koenekoop 2012:22842230}, {DOI:Koenekoop 2012:10.1038/ng.2356}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975675G>T"	""	"pathogenic"	""
"0000074565"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}, {OMIM608700:0002}"	""	""	""	"Germline"	"yes"	"rs150726175"	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000074566"	"1"	"90"	"1"	"10032168"	"10032168"	"subst"	"0.000162662"	"00006"	"NMNAT1_000025"	"g.10032168G>A"	""	"{PMID:Koenekoop 2012:22842230}, {DOI:Koenekoop 2012:10.1038/ng.2356}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9972110G>A"	""	"pathogenic"	""
"0000074567"	"2"	"90"	"1"	"10035827"	"10035827"	"subst"	"1.23251E-5"	"00006"	"NMNAT1_000026"	"g.10035827T>G"	""	"{PMID:Koenekoop 2012:22842230}, {DOI:Koenekoop 2012:10.1038/ng.2356}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975769T>G"	""	"pathogenic"	""
"0000074568"	"3"	"90"	"1"	"10042757"	"10042757"	"subst"	"0"	"00006"	"NMNAT1_000027"	"g.10042757T>C"	""	"{PMID:Koenekoop 2012:22842230}; {DOI:Koenekoop 2012:10.1038/ng.2356}, {OMIM608700:0001}"	""	""	""	"Germline"	"yes"	"rs387907290"	"0"	""	""	"g.9982699T>C"	""	"pathogenic"	""
"0000075166"	"3"	"90"	"1"	"10032156"	"10032156"	"subst"	"0"	"00006"	"NMNAT1_000028"	"g.10032156G>A"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9972098G>A"	""	"pathogenic"	""
"0000075168"	"21"	"90"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00006"	"NMNAT1_000029"	"g.10035730C>T"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975672C>T"	""	"pathogenic"	""
"0000075169"	"11"	"90"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00006"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic"	""
"0000075170"	"21"	"90"	"1"	"10035739"	"10035739"	"subst"	"8.12282E-6"	"00006"	"NMNAT1_000030"	"g.10035739A>G"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975681A>G"	""	"pathogenic"	""
"0000075171"	"11"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075172"	"3"	"90"	"1"	"10032156"	"10032156"	"subst"	"0"	"00006"	"NMNAT1_000028"	"g.10032156G>A"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9972098G>A"	""	"pathogenic"	""
"0000075536"	"2"	"90"	"1"	"10042484"	"10042484"	"del"	"0"	"00006"	"NMNAT1_000050"	"g.10042484del"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982426del"	""	"pathogenic"	""
"0000075537"	"3"	"90"	"1"	"10035749"	"10035749"	"subst"	"0"	"00006"	"NMNAT1_000038"	"g.10035749T>A"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975691T>A"	""	"pathogenic"	""
"0000075538"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075539"	"2"	"90"	"1"	"10035827"	"10035827"	"subst"	"1.23251E-5"	"00006"	"NMNAT1_000026"	"g.10035827T>G"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975769T>G"	""	"pathogenic"	""
"0000075540"	"2"	"90"	"1"	"10035827"	"10035827"	"subst"	"1.23251E-5"	"00006"	"NMNAT1_000026"	"g.10035827T>G"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975769T>G"	""	"pathogenic"	""
"0000075541"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075542"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075543"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075544"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075545"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075546"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075547"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075548"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075549"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075550"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075551"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075552"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075553"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075554"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075555"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075556"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075557"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075558"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075559"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075560"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075561"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075562"	"2"	"90"	"1"	"10042377"	"10042377"	"subst"	"0"	"00006"	"NMNAT1_000046"	"g.10042377T>C"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	"468T>C"	""	"Germline"	"yes"	""	"0"	""	""	"g.9982319T>C"	""	"pathogenic"	""
"0000075563"	"2"	"90"	"1"	"10042569"	"10042569"	"subst"	"0"	"00006"	"NMNAT1_000052"	"g.10042569T>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982511T>A"	""	"pathogenic"	""
"0000075564"	"2"	"90"	"1"	"10042451"	"10042451"	"subst"	"8.12229E-6"	"00006"	"NMNAT1_000048"	"g.10042451G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982393G>A"	""	"pathogenic"	""
"0000075565"	"3"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"00006"	"NMNAT1_000001"	"g.10042426G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982368G>A"	""	"pathogenic"	""
"0000075566"	"2"	"90"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00006"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic"	""
"0000075567"	"21"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075568"	"21"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075569"	"21"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075570"	"21"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075571"	"21"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075572"	"1"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075573"	"21"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075574"	"21"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075575"	"11"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075576"	"11"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075577"	"11"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000075578"	"1"	"90"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00006"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic"	""
"0000075579"	"1"	"90"	"1"	"10035739"	"10035739"	"subst"	"8.12282E-6"	"00006"	"NMNAT1_000030"	"g.10035739A>G"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975681A>G"	""	"pathogenic"	""
"0000075580"	"1"	"90"	"1"	"10035695"	"10035695"	"subst"	"4.06557E-6"	"00006"	"NMNAT1_000037"	"g.10035695C>T"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975637C>T"	""	"pathogenic"	""
"0000075581"	"1"	"90"	"1"	"10032168"	"10032168"	"subst"	"0.000162662"	"00006"	"NMNAT1_000025"	"g.10032168G>A"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9972110G>A"	""	"pathogenic"	""
"0000075582"	"1"	"90"	"1"	"10042642"	"10042642"	"del"	"0"	"00006"	"NMNAT1_000032"	"g.10042642del"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982584del"	""	"pathogenic"	""
"0000075583"	"1"	"90"	"1"	"10032190"	"10032190"	"subst"	"4.06613E-6"	"00006"	"NMNAT1_000035"	"g.10032190T>A"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9972132T>A"	""	"pathogenic"	""
"0000075584"	"1"	"90"	"1"	"10042471"	"10042471"	"subst"	"0"	"00006"	"NMNAT1_000049"	"g.10042471A>G"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982413A>G"	""	"pathogenic"	""
"0000075585"	"1"	"90"	"1"	"10042385"	"10042385"	"subst"	"0"	"00006"	"NMNAT1_000045"	"g.10042385G>C"	""	"{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982327G>C"	""	"pathogenic"	""
"0000075586"	"1"	"90"	"1"	"10032132"	"10032132"	"subst"	"4.07528E-6"	"00006"	"NMNAT1_000034"	"g.10032132A>G"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9972074A>G"	""	"pathogenic"	""
"0000075587"	"1"	"90"	"1"	"10035739"	"10035739"	"subst"	"8.12282E-6"	"00006"	"NMNAT1_000030"	"g.10035739A>G"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975681A>G"	""	"pathogenic"	""
"0000075588"	"1"	"90"	"1"	"10041153"	"10041153"	"del"	"0"	"00006"	"NMNAT1_000041"	"g.10041153del"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9981095del"	""	"pathogenic"	""
"0000075589"	"1"	"90"	"1"	"10041228"	"10041228"	"subst"	"0"	"00006"	"NMNAT1_000042"	"g.10041228G>C"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9981170G>C"	""	"pathogenic"	""
"0000075590"	"1"	"90"	"1"	"10041229"	"10041229"	"subst"	"0"	"00006"	"NMNAT1_000043"	"g.10041229G>C"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9981171G>C"	""	"pathogenic"	""
"0000075591"	"1"	"90"	"1"	"10042437"	"10042437"	"subst"	"0"	"00006"	"NMNAT1_000047"	"g.10042437A>G"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982379A>G"	""	"pathogenic"	""
"0000075592"	"1"	"90"	"1"	"10042461"	"10042461"	"subst"	"1.21836E-5"	"00006"	"NMNAT1_000014"	"g.10042461A>G"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982403A>G"	""	"pathogenic"	""
"0000075593"	"1"	"90"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00006"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982480C>T"	""	"pathogenic"	""
"0000075594"	"1"	"90"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00006"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982480C>T"	""	"pathogenic"	""
"0000075595"	"1"	"90"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00006"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982480C>T"	""	"pathogenic"	""
"0000075596"	"1"	"90"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00006"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982480C>T"	""	"pathogenic"	""
"0000075597"	"1"	"90"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00006"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982480C>T"	""	"pathogenic"	""
"0000075598"	"1"	"90"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00006"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982480C>T"	""	"pathogenic"	""
"0000075599"	"1"	"90"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00006"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982480C>T"	""	"pathogenic"	""
"0000075600"	"1"	"90"	"1"	"10042562"	"10042562"	"subst"	"4.06217E-6"	"00006"	"NMNAT1_000051"	"g.10042562G>T"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982504G>T"	""	"pathogenic"	""
"0000075601"	"1"	"90"	"1"	"10042671"	"10042671"	"subst"	"4.06379E-6"	"00006"	"NMNAT1_000033"	"g.10042671A>C"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982613A>C"	""	"pathogenic"	""
"0000075602"	"1"	"90"	"1"	"10042635"	"10042635"	"subst"	"1.21878E-5"	"00006"	"NMNAT1_000053"	"g.10042635T>C"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982577T>C"	""	"pathogenic"	""
"0000075603"	"1"	"90"	"1"	"10032168"	"10032168"	"subst"	"0.000162662"	"00006"	"NMNAT1_000025"	"g.10032168G>A"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9972110G>A"	""	"pathogenic"	""
"0000075604"	"1"	"90"	"1"	"10035739"	"10035739"	"subst"	"8.12282E-6"	"00006"	"NMNAT1_000030"	"g.10035739A>G"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975681A>G"	""	"pathogenic"	""
"0000075605"	"1"	"90"	"1"	"10041153"	"10041153"	"del"	"0"	"00006"	"NMNAT1_000041"	"g.10041153del"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9981095del"	""	"pathogenic"	""
"0000075606"	"1"	"90"	"1"	"10041108"	"10041108"	"subst"	"0"	"00006"	"NMNAT1_000040"	"g.10041108G>T"	""	"{PMID:Perrault 2012:22842229}, {DOI:Perrault 2012:10.1038/ng.2357}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9981050G>T"	""	"pathogenic"	""
"0000075607"	"11"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"00006"	"NMNAT1_000001"	"g.10042426G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982368G>A"	""	"pathogenic"	""
"0000075608"	"11"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"00006"	"NMNAT1_000001"	"g.10042426G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982368G>A"	""	"pathogenic"	""
"0000075609"	"11"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"00006"	"NMNAT1_000001"	"g.10042426G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982368G>A"	""	"pathogenic"	""
"0000075610"	"11"	"70"	"1"	"10042376"	"10042376"	"subst"	"4.08473E-6"	"00006"	"NMNAT1_000031"	"g.10042376C>G"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982318C>G"	""	"likely pathogenic"	""
"0000075611"	"11"	"90"	"1"	"10035827"	"10035827"	"subst"	"1.23251E-5"	"00006"	"NMNAT1_000026"	"g.10035827T>G"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975769T>G"	""	"pathogenic"	""
"0000075612"	"1"	"90"	"1"	"10042370"	"10042370"	"subst"	"4.08914E-6"	"00006"	"NMNAT1_000044"	"g.10042370G>T"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982312G>T"	""	"pathogenic"	""
"0000075613"	"11"	"90"	"1"	"10032235"	"10032235"	"subst"	"0"	"00006"	"NMNAT1_000036"	"g.10032235T>C"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9972177T>C"	""	"pathogenic"	""
"0000075614"	"11"	"90"	"1"	"10032235"	"10032235"	"subst"	"0"	"00006"	"NMNAT1_000036"	"g.10032235T>C"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9972177T>C"	""	"pathogenic"	""
"0000075615"	"21"	"90"	"1"	"10035789"	"10035789"	"subst"	"0"	"00006"	"NMNAT1_000039"	"g.10035789G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975731G>A"	""	"pathogenic"	""
"0000075616"	"21"	"90"	"1"	"10035789"	"10035789"	"subst"	"0"	"00006"	"NMNAT1_000039"	"g.10035789G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975731G>A"	""	"pathogenic"	""
"0000075617"	"21"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"00006"	"NMNAT1_000001"	"g.10042426G>A"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982368G>A"	""	"pathogenic"	""
"0000075618"	"11"	"70"	"1"	"10042736"	"10042736"	"subst"	"4.11282E-6"	"00006"	"NMNAT1_000022"	"g.10042736A>G"	""	"{PMID:Chiang 2012:22842231}, {DOI:Chiang 2012:10.1038/ng.2370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982678A>G"	""	"likely pathogenic"	""
"0000245403"	"0"	"10"	"1"	"10032249"	"10032249"	"subst"	"0.00499251"	"02330"	"NMNAT1_000054"	"g.10032249A>G"	""	""	""	"NMNAT1(NM_001297778.1):c.115+3A>G, NMNAT1(NM_022787.4):c.115+3A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9972191A>G"	""	"benign"	""
"0000245592"	"0"	"50"	"1"	"10035700"	"10035700"	"subst"	"0"	"02330"	"NMNAT1_000055"	"g.10035700A>G"	""	""	""	"NMNAT1(NM_001297778.1):c.166A>G (p.K56E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9975642A>G"	""	"VUS"	""
"0000254167"	"0"	"30"	"1"	"10032249"	"10032249"	"subst"	"0.00499251"	"01943"	"NMNAT1_000054"	"g.10032249A>G"	""	""	""	"NMNAT1(NM_001297778.1):c.115+3A>G, NMNAT1(NM_022787.4):c.115+3A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9972191A>G"	""	"likely benign"	""
"0000293130"	"0"	"50"	"1"	"10041207"	"10041207"	"subst"	"1.2278E-5"	"02330"	"NMNAT1_000056"	"g.10041207T>A"	""	""	""	"NMNAT1(NM_001297778.1):c.418T>A (p.S140T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9981149T>A"	""	"VUS"	""
"0000293131"	"0"	"10"	"1"	"10041311"	"10041311"	"del"	"0"	"02330"	"NMNAT1_000057"	"g.10041311del"	""	""	""	"NMNAT1(NM_001297778.1):c.439+83delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9981253del"	""	"benign"	""
"0000293133"	"0"	"70"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"02330"	"NMNAT1_000023"	"g.10042538C>T"	""	""	""	"NMNAT1(NM_001297778.1):c.619C>T (p.R207W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9982480C>T"	""	"likely pathogenic"	""
"0000304223"	"0"	"10"	"1"	"10042683"	"10042683"	"subst"	"0.000845487"	"01943"	"NMNAT1_000059"	"g.10042683G>A"	""	""	""	"NMNAT1(NM_001297778.1):c.764G>A (p.S255N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9982625G>A"	""	"benign"	""
"0000304224"	"0"	"50"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"01943"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"NMNAT1(NM_001297778.1):c.769G>A (p.E257K), NMNAT1(NM_022787.3):c.769G>A (p.E257K, p.(Glu257Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9982630G>A"	""	"VUS"	""
"0000341166"	"0"	"70"	"1"	"10032168"	"10032168"	"subst"	"0.000162662"	"02327"	"NMNAT1_000025"	"g.10032168G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9972110G>A"	""	"likely pathogenic"	""
"0000343238"	"0"	"90"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"02327"	"NMNAT1_000029"	"g.10035730C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9975672C>T"	""	"pathogenic"	""
"0000345300"	"0"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"02327"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"NMNAT1(NM_001297778.1):c.769G>A (p.E257K), NMNAT1(NM_022787.3):c.769G>A (p.E257K, p.(Glu257Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000346913"	"0"	"70"	"1"	"10042376"	"10042376"	"subst"	"4.08473E-6"	"02327"	"NMNAT1_000060"	"g.10042376C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.9982318C>G"	""	"likely pathogenic"	""
"0000408349"	"3"	"10"	"1"	"10003457"	"10003457"	"subst"	"0"	"00006"	"NMNAT1_000061"	"g.10003457G>C"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9943399G>C"	""	"benign"	""
"0000408350"	"3"	"10"	"1"	"10032600"	"10032600"	"subst"	"0"	"00006"	"NMNAT1_000062"	"g.10032600A>G"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9972542A>G"	""	"benign"	""
"0000408351"	"3"	"10"	"1"	"10035473"	"10035473"	"subst"	"0"	"00006"	"NMNAT1_000063"	"g.10035473T>C"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9975415T>C"	""	"benign"	""
"0000408352"	"3"	"10"	"1"	"10036009"	"10036009"	"subst"	"0"	"00006"	"NMNAT1_000064"	"g.10036009G>A"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9975951G>A"	""	"benign"	""
"0000408353"	"3"	"30"	"1"	"10042133"	"10042133"	"subst"	"0"	"00006"	"NMNAT1_000065"	"g.10042133C>T"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982075C>T"	""	"likely benign"	""
"0000408354"	"3"	"10"	"1"	"10042775"	"10042775"	"subst"	"0.00253641"	"00006"	"NMNAT1_000066"	"g.10042775A>G"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982717A>G"	""	"benign"	""
"0000408355"	"3"	"10"	"1"	"10043458"	"10043458"	"subst"	"0"	"00006"	"NMNAT1_000067"	"g.10043458A>G"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9983400A>G"	""	"benign"	""
"0000408356"	"3"	"30"	"1"	"10045152"	"10045152"	"subst"	"0.914125"	"00006"	"NMNAT1_000068"	"g.10045152C>G"	""	"{PMID:Coppieters 2015:26316326}"	""	""	""	"Germline"	""	"rs4073852"	"0"	""	""	"g.9985094C>G"	""	"likely benign"	""
"0000438682"	"1"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"01244"	"NMNAT1_000001"	"g.10042426G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982368G>A"	""	"pathogenic"	""
"0000438683"	"2"	"90"	"1"	"10042553"	"10042553"	"subst"	"5.28056E-5"	"01244"	"NMNAT1_000069"	"g.10042553G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982495G>A"	""	"pathogenic"	""
"0000502191"	"0"	"30"	"1"	"10042369"	"10042369"	"subst"	"0"	"01804"	"NMNAT1_000070"	"g.10042369G>C"	""	""	""	"NMNAT1(NM_022787.3):c.450G>C (p.(Lys150Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9982311G>C"	""	"likely benign"	""
"0000502192"	"0"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"02327"	"NMNAT1_000001"	"g.10042426G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9982368G>A"	""	"pathogenic"	""
"0000502193"	"0"	"70"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"02327"	"NMNAT1_000023"	"g.10042538C>T"	""	""	""	"NMNAT1(NM_001297778.1):c.619C>T (p.R207W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9982480C>T"	""	"likely pathogenic"	""
"0000502194"	"0"	"10"	"1"	"10042775"	"10042775"	"subst"	"0.00253641"	"02330"	"NMNAT1_000066"	"g.10042775A>G"	""	""	""	"NMNAT1(NM_001297778.1):c.*16A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9982717A>G"	""	"benign"	""
"0000604534"	"11"	"50"	"1"	"10035809"	"10035809"	"subst"	"0"	"03508"	"NMNAT1_000071"	"g.10035809G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975751G>A"	""	"pathogenic (recessive)"	""
"0000604535"	"21"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic (recessive)"	""
"0000604536"	"11"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"03508"	"NMNAT1_000029"	"g.10035730C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975672C>T"	""	"pathogenic (recessive)"	""
"0000604537"	"21"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic (recessive)"	""
"0000604538"	"21"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"03508"	"NMNAT1_000029"	"g.10035730C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975672C>T"	""	"likely pathogenic (recessive)"	""
"0000604539"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	""
"0000604540"	"11"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"03508"	"NMNAT1_000029"	"g.10035730C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975672C>T"	""	"likely pathogenic (recessive)"	""
"0000604541"	"21"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	""
"0000604542"	"21"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"03508"	"NMNAT1_000029"	"g.10035730C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975672C>T"	""	"likely pathogenic (recessive)"	""
"0000604543"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	""
"0000604544"	"21"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"03508"	"NMNAT1_000029"	"g.10035730C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975672C>T"	""	"likely pathogenic (recessive)"	""
"0000604545"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	""
"0000604546"	"21"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"03508"	"NMNAT1_000029"	"g.10035730C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975672C>T"	""	"likely pathogenic (recessive)"	""
"0000604547"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	""
"0000604548"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	""
"0000604549"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	""
"0000604576"	"21"	"50"	"1"	"10042358"	"10042760"	"del"	"0"	"03508"	"NMNAT1_000073"	"g.(10041229_10042358)_(10042760_?)del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.(9981171_9982300)_(9982702_?)del"	""	"likely pathogenic (recessive)"	""
"0000604577"	"21"	"70"	"1"	"10035649"	"10035834"	"del"	"0"	"03508"	"NMNAT1_000072"	"g.(10032247_10035649)_(10035834_10041088)del"	""	""	""	"116_299del"	""	"Germline"	""	""	"0"	""	""	"g.(9972189_9975591)_(9975776_9981030)del"	""	"pathogenic (recessive)"	""
"0000604595"	"0"	"30"	"1"	"10032209"	"10032209"	"subst"	"7.72584E-5"	"01943"	"NMNAT1_000074"	"g.10032209G>A"	""	""	""	"NMNAT1(NM_001297778.1):c.78G>A (p.R26=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9972151G>A"	""	"likely benign"	""
"0000604603"	"0"	"50"	"1"	"10042423"	"10042423"	"subst"	"0"	"01943"	"NMNAT1_000075"	"g.10042423G>C"	""	""	""	"NMNAT1(NM_001297778.1):c.504G>C (p.L168F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.9982365G>C"	""	"VUS"	""
"0000647316"	"1"	"90"	"1"	"10042376"	"10042376"	"subst"	"4.08473E-6"	"03575"	"NMNAT1_000060"	"g.10042376C>G"	"1/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs387907293}"	"Germline"	""	"rs387907293"	"0"	""	""	"g.9982318C>G"	""	"pathogenic"	""
"0000675377"	"0"	"90"	"1"	"10032156"	"10032156"	"subst"	"0"	"02330"	"NMNAT1_000028"	"g.10032156G>A"	""	""	""	"NMNAT1(NM_001297778.1):c.25G>A (p.V9M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000684416"	"1"	"70"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00004"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	"rs142968179"	"0"	""	""	"g.9982480C>T"	""	"likely pathogenic (recessive)"	""
"0000684417"	"1"	"70"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00004"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	"rs142968179"	"0"	""	""	"g.9982480C>T"	""	"likely pathogenic (recessive)"	""
"0000684435"	"2"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00004"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	"rs150726175"	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic (recessive)"	""
"0000684436"	"2"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00004"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic (recessive)"	""
"0000684542"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00004"	"NMNAT1_000002"	"g.10042688G>A"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000685298"	"0"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00004"	"NMNAT1_000002"	"g.10042688G>A"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000687788"	"0"	"30"	"1"	"10032197"	"10032197"	"subst"	"4.0661E-6"	"01943"	"NMNAT1_000076"	"g.10032197C>T"	""	""	""	"NMNAT1(NM_001297778.1):c.66C>T (p.N22=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000710365"	"1"	"50"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"VUS"	""
"0000713308"	"0"	"90"	"1"	"10042404"	"10042404"	"subst"	"0"	"00000"	"NMNAT1_000078"	"g.10042404C>A"	""	"{PMID:Carss 2017:28041643}"	""	"1:10042404C>A ENST00000377205.1:c.485C>A (Ser162Tyr)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713358"	"0"	"90"	"1"	"10035689"	"10035689"	"subst"	"4.0659E-6"	"00000"	"NMNAT1_000077"	"g.10035689G>T"	""	"{PMID:Carss 2017:28041643}"	""	"1:10035689G>T ENST00000377205.1:c.155G>T (Gly52Val)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713481"	"0"	"90"	"1"	"10042580"	"10042581"	"ins"	"0"	"00000"	"NMNAT1_000079"	"g.10042580_10042581insA"	""	"{PMID:Carss 2017:28041643}"	""	"1:10042579C>CA ENST00000377205.1:c.661dupA (Ile221AsnfsTer29)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713707"	"0"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Carss 2017:28041643}"	""	"1:10042688G>A ENST00000377205.1:c.769G>A (Glu257Lys)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713737"	"0"	"90"	"1"	"10042655"	"10042655"	"subst"	"4.06322E-6"	"00000"	"NMNAT1_000080"	"g.10042655G>C"	""	"{PMID:Carss 2017:28041643}"	""	"1:10042655G>C ENST00000377205.1:c.736G>C (Glu246Gln)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713801"	"0"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Carss 2017:28041643}"	""	"1:10042688G>A ENST00000377205.1:c.769G>A (Glu257Lys)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000731146"	"1"	"90"	"1"	"10035827"	"10035827"	"subst"	"1.23251E-5"	"00000"	"NMNAT1_000026"	"g.10035827T>G"	""	"{PMID:Porto 2017:29186038}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000731171"	"2"	"90"	"1"	"10032168"	"10032168"	"subst"	"0.000162662"	"00000"	"NMNAT1_000025"	"g.10032168G>A"	""	"{PMID:Porto 2017:29186038}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.88062786A>C"	""	"pathogenic (recessive)"	""
"0000731267"	"21"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic (recessive)"	""
"0000731268"	"21"	"70"	"1"	"10042419"	"10042419"	"subst"	"0"	"00000"	"NMNAT1_000081"	"g.10042419A>G"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982361A>G"	""	"likely pathogenic (recessive)"	""
"0000731269"	"21"	"70"	"1"	"10041153"	"10041153"	"del"	"0"	"00000"	"NMNAT1_000013"	"g.10041153del"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9981095del"	""	"likely pathogenic (recessive)"	""
"0000731289"	"11"	"70"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"00000"	"NMNAT1_000001"	"g.10042426G>A"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982368G>A"	""	"likely pathogenic (recessive)"	""
"0000731290"	"11"	"70"	"1"	"10041153"	"10041153"	"del"	"0"	"00000"	"NMNAT1_000013"	"g.10041153del"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9981095del"	""	"likely pathogenic (recessive)"	""
"0000731291"	"11"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Thompson 2017:29178642}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic (recessive)"	""
"0000731311"	"11"	"90"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00000"	"NMNAT1_000029"	"g.10035730C>T"	""	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9975672C>T"	""	"pathogenic (recessive)"	""
"0000731312"	"11"	"90"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00000"	"NMNAT1_000029"	"g.10035730C>T"	""	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9975672C>T"	""	"pathogenic (recessive)"	""
"0000731313"	"3"	"90"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic (recessive)"	""
"0000731338"	"21"	"90"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic (recessive)"	""
"0000731339"	"21"	"90"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Han 2017:28966547}, {PMID:Rim 2017:29145603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic (recessive)"	""
"0000731436"	"1"	"70"	"1"	"10032184"	"10032184"	"subst"	"1.62648E-5"	"00000"	"NMNAT1_000003"	"g.10032184A>G"	""	"{PMID:DiIorio 2017:29053603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9972126A>G"	""	"likely pathogenic (recessive)"	""
"0000731455"	"2"	"70"	"1"	"10042461"	"10042461"	"subst"	"1.21836E-5"	"00000"	"NMNAT1_000014"	"g.10042461A>G"	""	"{PMID:DiIorio 2017:29053603}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982403A>G"	""	"likely pathogenic (recessive)"	""
"0000733176"	"1"	"70"	"1"	"10032234"	"10032234"	"subst"	"0"	"00000"	"NMNAT1_000083"	"g.10032234A>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9972176A>G"	""	"likely pathogenic"	""
"0000733187"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000733188"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000733189"	"1"	"70"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00000"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982480C>T"	""	"likely pathogenic"	""
"0000733613"	"2"	"70"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"00000"	"NMNAT1_000001"	"g.10042426G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982368G>A"	""	"likely pathogenic"	""
"0000733621"	"2"	"70"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00000"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982480C>T"	""	"likely pathogenic"	""
"0000733622"	"2"	"70"	"1"	"10032196"	"10032196"	"subst"	"0"	"00000"	"NMNAT1_000082"	"g.10032196A>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9972138A>G"	""	"likely pathogenic"	""
"0000733623"	"2"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic"	""
"0000736160"	"1"	"70"	"1"	"10003580"	"10003580"	"subst"	"0"	"00006"	"NMNAT1_000084"	"g.10003580T>G"	""	"{PMID:Huang 2018:29641573}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000736161"	"2"	"70"	"1"	"10042629"	"10042629"	"subst"	"4.46893E-5"	"00006"	"NMNAT1_000085"	"g.10042629G>A"	""	"{PMID:Huang 2018:29641573}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000759837"	"3"	"70"	"1"	"10042614"	"10042614"	"subst"	"8.12414E-6"	"00000"	"NMNAT1_000089"	"g.10042614G>A"	""	"{PMID:Wang 2016:27422788}"	""	"c.G695A p.R232K"	""	"Germline"	""	""	"0"	""	""	"g.9982556G>A"	""	"likely pathogenic"	""
"0000759838"	"1"	"70"	"1"	"10032174"	"10032174"	"subst"	"0"	"00000"	"NMNAT1_000086"	"g.10032174G>A"	""	"{PMID:Wang 2016:27422788}"	""	"c.G43A p.G15S"	""	"Germline"	""	""	"0"	""	""	"g.9972116G>A"	""	"likely pathogenic"	""
"0000759839"	"3"	"70"	"1"	"10042640"	"10042640"	"subst"	"0"	"00000"	"NMNAT1_000090"	"g.10042640C>T"	""	"{PMID:Wang 2016:27422788}"	""	"c.C721T p.P241S"	""	"Germline"	""	""	"0"	""	""	"g.9982582C>T"	""	"likely pathogenic"	""
"0000759840"	"1"	"70"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00000"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Wang 2016:27422788}"	""	"c.C619T p.R207W"	""	"Germline"	""	""	"0"	""	""	"g.9982480C>T"	""	"likely pathogenic"	""
"0000759841"	"1"	"70"	"1"	"10042419"	"10042419"	"subst"	"0"	"00000"	"NMNAT1_000081"	"g.10042419A>G"	""	"{PMID:Wang 2016:27422788}"	""	"c.A500G p.N167S"	""	"Germline"	""	""	"0"	""	""	"g.9982361A>G"	""	"likely pathogenic"	""
"0000759871"	"2"	"70"	"1"	"10042553"	"10042553"	"subst"	"5.28056E-5"	"00000"	"NMNAT1_000069"	"g.10042553G>A"	""	"{PMID:Wang 2016:27422788}"	""	"c.G634A p.V212M"	""	"Germline"	""	""	"0"	""	""	"g.9982495G>A"	""	"likely pathogenic"	""
"0000759872"	"2"	"70"	"1"	"10042640"	"10042640"	"subst"	"0"	"00000"	"NMNAT1_000090"	"g.10042640C>T"	""	"{PMID:Wang 2016:27422788}"	""	"c.C721T p.P241S"	""	"Germline"	""	""	"0"	""	""	"g.9982582C>T"	""	"likely pathogenic"	""
"0000759873"	"2"	"70"	"1"	"10042587"	"10042587"	"subst"	"0"	"00000"	"NMNAT1_000088"	"g.10042587C>T"	""	"{PMID:Wang 2016:27422788}"	""	"c.C668T p.S223F"	""	"Germline"	""	""	"0"	""	""	"g.9982529C>T"	""	"likely pathogenic"	""
"0000760661"	"1"	"90"	"1"	"10035731"	"10035731"	"subst"	"8.12282E-6"	"00000"	"NMNAT1_000087"	"g.10035731G>A"	""	"{PMID:Bravo-Gil 2016:27032803}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9975673G>A"	""	"pathogenic"	""
"0000760679"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Bravo-Gil 2016:27032803}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000783859"	"1"	"50"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982570C>T"	""	"VUS"	""
"0000783860"	"1"	"50"	"1"	"10035648"	"10035648"	"subst"	"4.29428E-6"	"00000"	"NMNAT1_000091"	"g.10035648A>G"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9975590A>G"	""	"VUS"	""
"0000783861"	"1"	"50"	"1"	"10042632"	"10042632"	"subst"	"8.12532E-6"	"00000"	"NMNAT1_000092"	"g.10042632A>G"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982574A>G"	""	"VUS"	""
"0000783953"	"2"	"50"	"1"	"10042632"	"10042632"	"subst"	"8.12532E-6"	"00000"	"NMNAT1_000092"	"g.10042632A>G"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982574A>G"	""	"VUS"	""
"0000783954"	"2"	"50"	"1"	"10042553"	"10042553"	"subst"	"5.28056E-5"	"00000"	"NMNAT1_000069"	"g.10042553G>A"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982495G>A"	""	"VUS"	""
"0000783955"	"2"	"50"	"1"	"10042640"	"10042640"	"subst"	"0"	"00000"	"NMNAT1_000090"	"g.10042640C>T"	""	"{PMID:Wang 2015:26047050}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982582C>T"	""	"VUS"	""
"0000786420"	"1"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"00000"	"NMNAT1_000001"	"g.10042426G>A"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982368G>A"	""	"pathogenic (recessive)"	""
"0000786425"	"1"	"90"	"1"	"10042680"	"10042680"	"subst"	"0"	"00000"	"NMNAT1_000093"	"g.10042680A>G"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982622A>G"	""	"pathogenic (recessive)"	""
"0000786427"	"3"	"90"	"1"	"10032184"	"10032184"	"subst"	"1.62648E-5"	"00000"	"NMNAT1_000003"	"g.10032184A>G"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9972126A>G"	""	"pathogenic (recessive)"	""
"0000786428"	"1"	"90"	"1"	"10035731"	"10035731"	"subst"	"8.12282E-6"	"00000"	"NMNAT1_000087"	"g.10035731G>A"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9975673G>A"	""	"pathogenic (recessive)"	""
"0000786480"	"2"	"90"	"1"	"10042553"	"10042553"	"subst"	"5.28056E-5"	"00000"	"NMNAT1_000069"	"g.10042553G>A"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982495G>A"	""	"pathogenic (recessive)"	""
"0000786484"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic (recessive)"	""
"0000786485"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Consugar 2015:25412400}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic (recessive)"	""
"0000788318"	"0"	"50"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Katagiri 2014:25268133}"	""	"C709T"	""	"Germline"	""	""	"0"	""	""	"g.9982570C>T"	""	"VUS"	""
"0000790739"	"11"	"70"	"1"	"10035739"	"10035739"	"subst"	"8.12282E-6"	"00000"	"NMNAT1_000030"	"g.10035739A>G"	""	"{PMID:Coppieters 2014:24625443}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9975681A>G"	""	"likely pathogenic"	""
"0000790746"	"21"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Coppieters 2014:24625443}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000791574"	"11"	"90"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Hosono 2018:29844330}"	""	"c.709C>T"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic"	"ACMG"
"0000791590"	"21"	"90"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00000"	"NMNAT1_000029"	"g.10035730C>T"	""	"{PMID:Hosono 2018:29844330}"	""	"c.196C>T"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.9975672C>T"	""	"pathogenic"	"ACMG"
"0000791600"	"11"	"90"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00000"	"NMNAT1_000029"	"g.10035730C>T"	""	"{PMID:Hosono 2018:29844330}"	""	"c.196C>T"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.9975672C>T"	""	"pathogenic"	"ACMG"
"0000791603"	"21"	"90"	"1"	"10032132"	"10032132"	"subst"	"4.07528E-6"	"00000"	"NMNAT1_000034"	"g.10032132A>G"	""	"{PMID:Hosono 2018:29844330}"	""	"c.1A>G"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.9972074A>G"	""	"pathogenic"	"ACMG"
"0000791628"	"11"	"90"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Hosono 2018:29844330}"	""	"c.709C>T"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic"	"ACMG"
"0000791636"	"21"	"90"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Hosono 2018:29844330}"	""	"c.709C>T"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic"	"ACMG"
"0000792333"	"0"	"70"	"1"	"10003594"	"10003594"	"subst"	"0"	"03508"	"NMNAT1_000094"	"g.10003594C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000792334"	"0"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000792395"	"0"	"70"	"1"	"10003594"	"10003594"	"subst"	"0"	"03508"	"NMNAT1_000094"	"g.10003594C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000792396"	"0"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000792399"	"0"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"03508"	"NMNAT1_000029"	"g.10035730C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	""
"0000792400"	"0"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794036"	"0"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"03508"	"NMNAT1_000029"	"g.10035730C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794037"	"0"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794078"	"0"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"03508"	"NMNAT1_000017"	"g.10042628C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794338"	"0"	"70"	"1"	"10042629"	"10042629"	"subst"	"4.46893E-5"	"00000"	"NMNAT1_000085"	"g.10042629G>A"	""	"{PMID:Wang 2018:30029497}"	""	"NM_022787.3:c.710G>A, NP_073624.2:p.(Arg237His), NC_000001.10:g.10042629G>A"	""	"Germline"	"?"	""	"0"	""	""	"g.9982571G>A"	""	"likely pathogenic"	"ACMG"
"0000794339"	"0"	"90"	"1"	"10035713"	"10035714"	"ins"	"0"	"00000"	"NMNAT1_000097"	"g.10035713_10035714insA"	""	"{PMID:Wang 2018:30029497}"	""	"NM_022787.3:c.179_180insA, NP_073624.2:p.(Ile61HisfsTer18), NC_000001.10:g.10035713_10035714insA"	""	"Germline"	"?"	""	"0"	""	""	"g.9975655_9975656insA"	""	"pathogenic"	"ACMG"
"0000794721"	"0"	"70"	"1"	"10032160"	"10032160"	"subst"	"0"	"03508"	"NMNAT1_000095"	"g.10032160T>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794722"	"0"	"70"	"1"	"10042629"	"10042629"	"subst"	"4.46893E-5"	"03508"	"NMNAT1_000085"	"g.10042629G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000794882"	"0"	"70"	"1"	"10032131"	"10032247"	"del"	"0"	"03508"	"NMNAT1_000096"	"g.(?_10032131)_(10032247_10035649)del"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.(?_9972073)_(9972189_9975591)del"	""	"pathogenic"	""
"0000795995"	"0"	"30"	"1"	"10042629"	"10042629"	"subst"	"4.46893E-5"	"00000"	"NMNAT1_000085"	"g.10042629G>A"	""	"{PMID:Chen-2013:23661368}"	""	"c.710G>A"	"unknown variant 2nd chromosome"	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000796182"	"0"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Neveling-2013:24123792}"	""	"c.769G>A"	"-"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000796183"	"0"	"70"	"1"	"10042536"	"10042536"	"subst"	"0"	"00000"	"NMNAT1_000009"	"g.10042536A>G"	""	"{PMID:Neveling-2013:24123792}"	""	"c.617A>G"	"-"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000796998"	"0"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"00000"	"NMNAT1_000001"	"g.10042426G>A"	""	"{PMID:Corton-2013:23940504}"	""	"c.507G.A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796999"	"0"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Corton-2013:23940504}"	""	"c.769G.A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000797180"	"0"	"70"	"1"	"10032143"	"10032143"	"dup"	"0"	"00000"	"NMNAT1_000098"	"g.10032143dup"	""	"{PMID:Weisschuh 2018:30576320}"	""	"allele 1: c.12dup/p.E5Rfs*4, allele 2: c.769G>A/p.E257K"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9972085dup"	""	"likely pathogenic"	"ACMG"
"0000797204"	"0"	"50"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Weisschuh 2018:30576320}"	""	"allele 1: c.12dup/p.E5Rfs*4, allele 2: c.769G>A/p.E257K"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"VUS"	"ACMG"
"0000812778"	"0"	"70"	"1"	"10042614"	"10042614"	"subst"	"8.12414E-6"	"00000"	"NMNAT1_000089"	"g.10042614G>A"	""	"{PMID:Wang 2019:31106028}"	""	"c.695G>A, p.(Arg232Lys)"	"single heterozygous variant in a recessive gene"	"Germline"	"?"	""	"0"	""	""	"g.9982556G>A"	""	"likely pathogenic"	""
"0000813730"	"1"	"90"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00000"	"NMNAT1_000029"	"g.10035730C>T"	""	"{PMID:Xu 2020:31630094}"	""	"NMNAT1 NM_022787: g.32245C>T, c.196C>T, p.R66W"	""	"Germline"	"yes"	""	"0"	""	""	"g.9975672C>T"	""	"pathogenic"	"ACMG"
"0000813790"	"2"	"90"	"1"	"10042640"	"10042640"	"subst"	"0"	"00000"	"NMNAT1_000090"	"g.10042640C>T"	""	"{PMID:Xu 2020:31630094}"	""	"NMNAT1 NM_022787: g.39155C>T, c.721C>T, p.P241S"	""	"Germline"	"yes"	""	"0"	""	""	"g.9982582C>T"	""	"pathogenic"	"ACMG"
"0000816092"	"0"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"NMNAT1 c.769G>A, p.Glu257Lys"	"Located at end of transcript, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000816418"	"0"	"70"	"1"	"10035733"	"10035733"	"subst"	"8.12275E-6"	"00000"	"NMNAT1_000011"	"g.10035733G>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.199G>T, p.Val67Phe"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9975675G>T"	""	"likely pathogenic"	""
"0000818438"	"11"	"90"	"1"	"10035809"	"10035809"	"subst"	"0"	"00000"	"NMNAT1_000071"	"g.10035809G>A"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"c.275G>A:p.(Trp92*)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9975751G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000818439"	"21"	"90"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Surl 2020:32165824}, {PMID:Moon 2021:35052368}"	""	"c.709C>T:p.(Arg237Cys)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818440"	"11"	"90"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00000"	"NMNAT1_000029"	"g.10035730C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.196C>T:p.(Arg66Trp)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9975672C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818441"	"21"	"90"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.709C>T:p.(Arg237Cys)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9982570C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000818442"	"21"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00000"	"NMNAT1_000029"	"g.10035730C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.196C>T:p.(Arg66Trp)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9975672C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818443"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.709C>T:p.(Arg237Cys)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818444"	"11"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00000"	"NMNAT1_000029"	"g.10035730C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.196C>T:p.(Arg66Trp)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9975672C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818445"	"21"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.709C>T:p.(Arg237Cys)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818446"	"21"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00000"	"NMNAT1_000029"	"g.10035730C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.196C>T:p.(Arg66Trp)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9975672C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818447"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.709C>T:p.(Arg237Cys)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818448"	"21"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00000"	"NMNAT1_000029"	"g.10035730C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.196C>T:p.(Arg66Trp)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9975672C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818449"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.709C>T:p.(Arg237Cys)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818450"	"21"	"70"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00000"	"NMNAT1_000029"	"g.10035730C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.196C>T:p.(Arg66Trp)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9975672C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818451"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.709C>T:p.(Arg237Cys)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818452"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.709C>T:p.(Arg237Cys)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818453"	"21"	"70"	"1"	"0"	"0"	""	"0"	"00000"	"NPHS2_000000"	"g.?"	""	"{PMID:Surl 2020:32165824}"	""	"Exon 4-5 deletion"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818454"	"11"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Surl 2020:32165824}"	""	"c.709C>T:p.(Arg237Cys)"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818455"	"21"	"70"	"1"	"0"	"0"	""	"0"	"00000"	"NPHS2_000000"	"g.?"	""	"{PMID:Surl 2020:32165824}"	""	"Exon 2 deletion"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818952"	"1"	"70"	"1"	"10035649"	"10035834"	"del"	"0"	"00000"	"NMNAT1_000099"	"g.(10032247_10035649)_(10035834_10041088)del"	""	"{PMID:Ellingford 2017:28378820}, {PMID:Ellingsford 2018:29074561}"	""	"del ex3"	""	"Germline"	"yes"	""	"0"	""	""	"g.(9972189_9975591)_(9975776_9981030)del"	""	"likely pathogenic"	""
"0000818953"	"2"	"70"	"1"	"10042553"	"10042553"	"subst"	"5.28056E-5"	"00000"	"NMNAT1_000069"	"g.10042553G>A"	""	"{PMID:Ellingsford 2018:29074561}"	""	"c.634G>A p.(Val212Met)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000819610"	"1"	"70"	"1"	"10042548"	"10042548"	"subst"	"0"	"00000"	"NMNAT1_000100"	"g.10042548T>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NMNAT1, variant 1: c.629T>C/p.I210T, variant 2: c.769G>A/p.E257K"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982490T>C"	""	"likely pathogenic"	""
"0000819650"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NMNAT1, variant 1: c.769G>A/p.E257K, variant 2: c.109G>A/p.G37R"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000819676"	"1"	"70"	"1"	"10041153"	"10041153"	"del"	"0"	"00000"	"NMNAT1_000013"	"g.10041153del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NMNAT1, variant 1: c.364del/p.R122Gfs*20, variant 2: c.769G>A/p.E257K"	"solved, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.9981095del"	""	"likely pathogenic"	""
"0000819773"	"1"	"70"	"1"	"10035733"	"10035733"	"subst"	"8.12275E-6"	"00000"	"NMNAT1_000011"	"g.10035733G>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NMNAT1, variant 1: c.199G>T/p.V67F, variant 2: c.769G>A/p.E257K"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9975675G>T"	""	"likely pathogenic"	""
"0000820364"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NMNAT1, variant 1: c.769G>A/p.E257K, variant 2: c.680G>A/p.R227Q"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000820365"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NMNAT1, variant 1: c.769G>A/p.E257K, variant 2: c.680G>A/p.R227Q"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000820678"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NMNAT1, variant 1: c.629T>C/p.I210T, variant 2: c.769G>A/p.E257K"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000820689"	"1"	"70"	"1"	"10032240"	"10032240"	"subst"	"0"	"00000"	"NMNAT1_000012"	"g.10032240G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NMNAT1, variant 1: c.769G>A/p.E257K, variant 2: c.109G>A/p.G37R"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9972182G>A"	""	"likely pathogenic"	""
"0000820696"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NMNAT1, variant 1: c.364del/p.R122Gfs*20, variant 2: c.769G>A/p.E257K"	"solved, compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000820716"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NMNAT1, variant 1: c.199G>T/p.V67F, variant 2: c.769G>A/p.E257K"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000820884"	"1"	"70"	"1"	"10042599"	"10042599"	"subst"	"4.06237E-6"	"00000"	"NMNAT1_000102"	"g.10042599G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NMNAT1, variant 1: c.769G>A/p.E257K, variant 2: c.680G>A/p.R227Q"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982541G>A"	""	"likely pathogenic"	""
"0000820885"	"1"	"70"	"1"	"10042599"	"10042599"	"subst"	"4.06237E-6"	"00000"	"NMNAT1_000102"	"g.10042599G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"NMNAT1, variant 1: c.769G>A/p.E257K, variant 2: c.680G>A/p.R227Q"	"possibly solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982541G>A"	""	"likely pathogenic"	""
"0000820997"	"1"	"90"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00000"	"NMNAT1_000023"	"g.10042538C>T"	""	"{PMID:Ruberto 2020:32507954}"	""	"NMNAT1 gene:c.[619C?>?T]; [769G?>?A], p.[Arg207Tyr]; [Glu257Lys]"	"error in annotation, c.619C>T causes p.(Arg207Trp) and not p.(Arg207Tyr)"	"Germline"	"?"	""	"0"	""	""	"g.9982480C>T"	""	"pathogenic"	""
"0000821002"	"0"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Ruberto 2020:32507954}"	""	"NMNAT1 gene:c.[769G?>?A]; [(769G?>?A)], p.[Glu257Lys]; [(Glu257Lys]"	"a deletion involving NMNAT1 gene was found, so most probably this mutation only appears homozygous and is on the other allele"	"Unknown"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000821003"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Ruberto 2020:32507954}"	""	"NMNAT1 gene:c.[619C?>?T]; [769G?>?A], p.[Arg207Tyr]; [Glu257Lys]"	""	"Germline"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	""
"0000821006"	"0"	"90"	"1"	"9200001"	"12700000"	"del"	"0"	"00000"	"MTHFR_000084"	"g.9200001_12700000del"	""	"{PMID:Ruberto 2020:32507954}"	""	"CGH array deletion in Cr1p36.22 involving NMNAT1 gene,"	"am apparent homozygous NMNAT1 mutation was found, probably on the other allele"	"Unknown"	"?"	""	"0"	""	""	"g.9100001_12500000del"	""	"likely pathogenic"	""
"0000821309"	"0"	"70"	"1"	"10042404"	"10042404"	"subst"	"0"	"00000"	"NMNAT1_000078"	"g.10042404C>A"	""	"{PMID:Turro 2020:32581362}"	""	"NMNAT1 c.485C>A, p.Ser162Tyr"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.9982346C>A"	""	"likely pathogenic"	""
"0000821310"	"0"	"70"	"1"	"10035689"	"10035689"	"subst"	"4.0659E-6"	"00000"	"NMNAT1_000077"	"g.10035689G>T"	""	"{PMID:Turro 2020:32581362}"	""	"NMNAT1 c.155G>T, p.Gly52Val"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.9975631G>T"	""	"likely pathogenic"	""
"0000821311"	"0"	"70"	"1"	"10042580"	"10042580"	"dup"	"0"	"00000"	"NMNAT1_000101"	"g.10042580dup"	""	"{PMID:Turro 2020:32581362}"	""	"NMNAT1 c.661dupA, p.Ile221AsnfsTer29"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.9982522dup"	""	"likely pathogenic"	""
"0000821454"	"0"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Turro 2020:32581362}"	""	"NMNAT1 c.769G>A, p.Glu257Lys"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000821581"	"0"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Turro 2020:32581362}"	""	"NMNAT1 c.769G>A, p.Glu257Lys"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000821582"	"0"	"70"	"1"	"10042655"	"10042655"	"subst"	"4.06322E-6"	"00000"	"NMNAT1_000080"	"g.10042655G>C"	""	"{PMID:Turro 2020:32581362}"	""	"NMNAT1 c.736G>C, p.Glu246Gln"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.9982597G>C"	""	"likely pathogenic"	""
"0000821583"	"0"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Turro 2020:32581362}"	""	"NMNAT1 c.769G>A, p.Glu257Lys"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	""
"0000822045"	"3"	"70"	"1"	"10032168"	"10032168"	"subst"	"0.000162662"	"00000"	"NMNAT1_000025"	"g.10032168G>A"	""	"{PMID:Habibi 2020:32641690}"	""	"NMNAT1 c.[37G > A];[37G > A], p.[A13T];[A13T]"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.9972110G>A"	""	"likely pathogenic"	""
"0000822046"	"3"	"70"	"1"	"10032168"	"10032168"	"subst"	"0.000162662"	"00000"	"NMNAT1_000025"	"g.10032168G>A"	""	"{PMID:Habibi 2020:32641690}"	""	"NMNAT1 c.[37G > A];[37G > A], p.[A13T];[A13T]"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.9972110G>A"	""	"likely pathogenic"	""
"0000823257"	"0"	"50"	"1"	"10042472"	"10042472"	"subst"	"1.21839E-5"	"00000"	"NMNAT1_000103"	"g.10042472T>C"	""	"{PMID:Hull 2020:32856788}"	""	"NMNAT1 nucleotide 1, protein 1:c.553T>C, p.Cys185Arg nucleotide 2, protein 2:c.769G>A, p.Glu257Lys"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.9982414T>C"	""	"VUS"	""
"0000823289"	"0"	"50"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Hull 2020:32856788}"	""	"NMNAT1 nucleotide 1, protein 1:c.553T>C, p.Cys185Arg nucleotide 2, protein 2:c.769G>A, p.Glu257Lys"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"VUS"	""
"0000823375"	"0"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.769G>A; p.GIu257Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	"ACMG"
"0000823376"	"0"	"70"	"1"	"0"	"0"	""	"0"	"00000"	"NPHS2_000000"	"g.?"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 Exon 2-4 duplication; p.*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	"ACMG"
"0000823377"	"0"	"50"	"1"	"10032168"	"10032168"	"subst"	"0.000162662"	"00000"	"NMNAT1_000025"	"g.10032168G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.37G>A; p.AIa13Thr"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9972110G>A"	""	"VUS"	"ACMG"
"0000823378"	"0"	"70"	"1"	"10042678"	"10042678"	"delins"	"0"	"00000"	"NMNAT1_000104"	"g.10042678delinsTA"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.759deIGinsTA; p.Leu253PhefsTerS"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982620delinsTA"	""	"likely pathogenic"	"ACMG"
"0000823379"	"0"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.769G>A; p.GIu257Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	"ACMG"
"0000823380"	"0"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.769G>A; p.GIu257Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	"ACMG"
"0000823381"	"0"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.769G>A; p.GIu257Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	"ACMG"
"0000823503"	"0"	"50"	"1"	"10042635"	"10042635"	"subst"	"1.21878E-5"	"00000"	"NMNAT1_000053"	"g.10042635T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.716T>C; p.Leu239Ser"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982577T>C"	""	"VUS"	"ACMG"
"0000823504"	"0"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.769G>A; p.GIu257Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982630G>A"	""	"likely pathogenic"	"ACMG"
"0000823505"	"0"	"50"	"1"	"10035827"	"10035827"	"subst"	"1.23251E-5"	"00000"	"NMNAT1_000026"	"g.10035827T>G"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.293T>G; p.VaI98GIy"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9975769T>G"	""	"VUS"	"ACMG"
"0000823506"	"0"	"50"	"1"	"10003594"	"10003594"	"subst"	"0"	"00000"	"NMNAT1_000094"	"g.10003594C>T"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.-57+21C>T; p.?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9943536C>T"	""	"VUS"	"ACMG"
"0000823507"	"0"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"00000"	"NMNAT1_000001"	"g.10042426G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.507G>A; p.Trp169Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982368G>A"	""	"pathogenic"	"ACMG"
"0000823508"	"0"	"50"	"1"	"10035827"	"10035827"	"subst"	"1.23251E-5"	"00000"	"NMNAT1_000026"	"g.10035827T>G"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.293T>G; p.VaI98GIy"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9975769T>G"	""	"VUS"	"ACMG"
"0000823509"	"0"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"00000"	"NMNAT1_000001"	"g.10042426G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"NMNAT1 c.507G>A; p.Trp169Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982368G>A"	""	"pathogenic"	"ACMG"
"0000824663"	"0"	"90"	"1"	"10035648"	"10035648"	"subst"	"4.29428E-6"	"00000"	"NMNAT1_000091"	"g.10035648A>G"	""	"{PMID:Ma 2021:33691693}"	""	"NMNAT1 c.116-2A>G, ."	"marked as causative, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9975590A>G"	""	"pathogenic"	"ACMG"
"0000824690"	"0"	"70"	"1"	"10042620"	"10042620"	"subst"	"0"	"00000"	"NMNAT1_000105"	"g.10042620A>G"	""	"{PMID:Ma 2021:33691693}"	""	"NMNAT1 c.A701G, p.Q234R"	"marked as causative, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982562A>G"	""	"likely pathogenic"	"ACMG"
"0000824763"	"0"	"70"	"1"	"10042629"	"10042629"	"subst"	"4.46893E-5"	"00000"	"NMNAT1_000085"	"g.10042629G>A"	""	"{PMID:Ma 2021:33691693}"	""	"NMNAT1 c.G710A, p.R237H"	"marked as causative, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982571G>A"	""	"likely pathogenic"	"ACMG"
"0000824779"	"0"	"70"	"1"	"10042628"	"10042628"	"subst"	"5.28146E-5"	"00000"	"NMNAT1_000017"	"g.10042628C>T"	""	"{PMID:Ma 2021:33691693}"	""	"NMNAT1 c.C709T, p.R237C"	"marked as causative, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.9982570C>T"	""	"likely pathogenic"	"ACMG"
"0000825915"	"0"	"70"	"1"	"10035713"	"10035714"	"ins"	"0"	"00000"	"NMNAT1_000097"	"g.10035713_10035714insA"	""	"{PMID:Liu-2020:33090715}"	""	"c.179_180insA"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825916"	"0"	"70"	"1"	"10042629"	"10042629"	"subst"	"4.46893E-5"	"00000"	"NMNAT1_000085"	"g.10042629G>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.710G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000828873"	"0"	"70"	"1"	"10035739"	"10035739"	"subst"	"8.12282E-6"	"00000"	"NMNAT1_000030"	"g.10035739A>G"	""	"{PMID:Chen 2021:43360855}"	""	"NMNAT1 c.[205A>G];[?], V1: c.205A>G, (p.Met69Val)"	"single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified"	"Unknown"	"?"	""	"0"	""	""	"g.9975681A>G"	""	"likely pathogenic"	"ACMG"
"0000829458"	"0"	"70"	"1"	"10032190"	"10032190"	"subst"	"4.06613E-6"	"00000"	"NMNAT1_000035"	"g.10032190T>A"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.59T>A (p.Ile20Asn)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000829460"	"0"	"50"	"1"	"10032196"	"10032196"	"subst"	"0"	"00000"	"NMNAT1_000082"	"g.10032196A>G"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.65A>G (p.(Asn22Ser))"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000847352"	"21"	"90"	"1"	"10035806"	"10035806"	"subst"	"0"	"00000"	"NMNAT1_000108"	"g.10035806A>G"	""	""	""	"c.272A>G"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000847353"	"11"	"90"	"1"	"10035730"	"10035730"	"subst"	"8.52903E-5"	"00000"	"NMNAT1_000029"	"g.10035730C>T"	""	""	""	"c.196C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000847368"	"3"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"p.Glu257Lys"	"hypomorphic variant that almost without exception causes LCA in combination with more severe NMNAT1 variants"	"Germline"	"no"	""	"0"	""	""	""	""	"likely pathogenic (!)"	""
"0000847369"	"3"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"p.Glu257Lys"	"hypomorphic variant that almost without exception causes LCA in combination with more severe NMNAT1 variants"	"Germline"	"no"	""	"0"	""	""	""	""	"likely pathogenic (!)"	""
"0000847370"	"1"	"70"	"1"	"10032184"	"10032184"	"subst"	"1.62648E-5"	"00000"	"NMNAT1_000003"	"g.10032184A>G"	""	""	""	"c.53A>G (p.N18S)"	""	"Germline"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847371"	"2"	"70"	"1"	"10042391"	"10042391"	"subst"	"0"	"00000"	"NMNAT1_000110"	"g.10042391G>C"	""	""	""	"c.472G>C (p.D158H)"	""	"Germline"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847372"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"c.769G>A (p.E257K)"	""	"Germline"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847373"	"2"	"70"	"1"	"10035787"	"10035787"	"subst"	"0"	"00000"	"NMNAT1_000106"	"g.10035787T>C"	""	""	""	"c.253T>C (p.W85R)"	""	"Germline"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847374"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"c.769G>A (p.E257K)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847375"	"2"	"70"	"1"	"10042536"	"10042536"	"subst"	"0"	"00000"	"NMNAT1_000009"	"g.10042536A>G"	""	""	""	"c.617A>G (p.H206A)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847376"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"c.769G>A (p.E257K)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847377"	"2"	"70"	"1"	"10042536"	"10042536"	"subst"	"0"	"00000"	"NMNAT1_000009"	"g.10042536A>G"	""	""	""	"c.617A>G (p.H206A)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847378"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"c.769G>A (p.E257K)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847379"	"2"	"70"	"1"	"10042514"	"10042514"	"subst"	"0"	"00000"	"NMNAT1_000111"	"g.10042514G>T"	""	""	""	"c.595G>T (p.E199*)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847380"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"c.769G>A (p.E257K)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847381"	"2"	"70"	"1"	"10042650"	"10042650"	"subst"	"0"	"00000"	"NMNAT1_000112"	"g.10042650T>C"	""	""	""	"c.731T>C (p.V244A)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847382"	"1"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"c.769G>A (p.E257K)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847383"	"2"	"70"	"1"	"10042538"	"10042538"	"subst"	"3.65583E-5"	"00000"	"NMNAT1_000023"	"g.10042538C>T"	""	""	""	"c.619C>T (p.R207W)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847384"	"3"	"90"	"1"	"10042640"	"10042640"	"subst"	"0"	"00000"	"NMNAT1_000090"	"g.10042640C>T"	"0/300 unrelated healthy individuals"	""	""	"c.721C>T, p. Pro241Ser"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000847385"	"3"	"90"	"1"	"10042640"	"10042640"	"subst"	"0"	"00000"	"NMNAT1_000090"	"g.10042640C>T"	"0/300 unrelated healthy individuals"	""	""	"c.721C>T, p. Pro241Ser"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000847386"	"3"	"90"	"1"	"10032156"	"10032156"	"subst"	"0"	"00000"	"NMNAT1_000028"	"g.10032156G>A"	""	""	""	"c.25G>A (p.Val9Met)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000847388"	"3"	"90"	"1"	"10032156"	"10032156"	"subst"	"0"	"00000"	"NMNAT1_000028"	"g.10032156G>A"	""	""	""	"c.25G>A (p.Val9Met)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000847389"	"3"	"90"	"1"	"10042419"	"10042419"	"subst"	"0"	"00000"	"NMNAT1_000081"	"g.10042419A>G"	""	""	""	"p.Asn167Ser (c.500A>G)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000847391"	"3"	"90"	"1"	"10042419"	"10042419"	"subst"	"0"	"00000"	"NMNAT1_000081"	"g.10042419A>G"	""	""	""	"p.Asn167Ser (c.500A>G)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000847392"	"3"	"70"	"1"	"10035805"	"10035805"	"subst"	"4.07067E-6"	"00000"	"NMNAT1_000107"	"g.10035805G>A"	""	""	""	"c.[271G > A] p.(Glu91Lys)"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000847393"	"1"	"90"	"1"	"10032184"	"10032184"	"subst"	"1.62648E-5"	"00000"	"NMNAT1_000003"	"g.10032184A>G"	""	""	""	"c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys)."	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000847394"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00000"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys)."	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000847395"	"3"	"90"	"1"	"10036359"	"10043727"	"del"	"0"	"00000"	"NMNAT1_000109"	"g.10036359_10043727del"	""	""	""	"c.299+526_*968del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000847396"	"3"	"90"	"1"	"10036359"	"10043727"	"del"	"0"	"00000"	"NMNAT1_000109"	"g.10036359_10043727del"	""	""	""	"c.299+526_*968del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000847397"	"3"	"90"	"1"	"10036359"	"10043727"	"del"	"0"	"00000"	"NMNAT1_000109"	"g.10036359_10043727del"	""	""	""	"c.299+526_*968del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000848197"	"0"	"70"	"1"	"10035731"	"10035731"	"subst"	"8.12282E-6"	"02327"	"NMNAT1_000087"	"g.10035731G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000881432"	"1"	"70"	"1"	"10042590"	"10042590"	"subst"	"4.06213E-6"	"04405"	"NMNAT1_000113"	"g.10042590C>A"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982532C>A"	""	"likely pathogenic"	"ACMG"
"0000881460"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"04405"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	"ACMG"
"0000896474"	"0"	"70"	"1"	"10035739"	"10035739"	"subst"	"8.12282E-6"	"00000"	"NMNAT1_000030"	"g.10035739A>G"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000795"	"{PMID:Chen 2021:33608557}"	""	"NMNAT1 c.[205A>G];[?]; p.(Met69Val)"	"heterozygous; single variant in a recessive gene, no second allele found"	"Germline"	"yes"	""	"0"	""	""	"g.9975681A>G"	""	"likely pathogenic"	""
"0000910722"	"0"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"02330"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"NMNAT1(NM_001297778.1):c.769G>A (p.E257K), NMNAT1(NM_022787.3):c.769G>A (p.E257K, p.(Glu257Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000916511"	"1"	"70"	"1"	"10032185"	"10032185"	"subst"	"0"	"04436"	"NMNAT1_000114"	"g.10032185T>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.54T>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916512"	"2"	"70"	"1"	"10042553"	"10042553"	"subst"	"5.28056E-5"	"04436"	"NMNAT1_000069"	"g.10042553G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.634G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916520"	"3"	"70"	"1"	"10035727"	"10035727"	"subst"	"0"	"04436"	"NMNAT1_000115"	"g.10035727C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.193C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916610"	"1"	"70"	"1"	"10042376"	"10042376"	"subst"	"4.08473E-6"	"04436"	"NMNAT1_000031"	"g.10042376C>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.457C>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916611"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"04436"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[769G>A;817A>G]"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916612"	"2"	"90"	"1"	"10042736"	"10042736"	"subst"	"4.11282E-6"	"04436"	"NMNAT1_000022"	"g.10042736A>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.[769G>A;817A>G]"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000927959"	"0"	"70"	"1"	"10042385"	"10042385"	"subst"	"0"	"02327"	"NMNAT1_000116"	"g.10042385G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000927960"	"0"	"90"	"1"	"10042553"	"10042553"	"subst"	"5.28056E-5"	"02330"	"NMNAT1_000069"	"g.10042553G>A"	""	""	""	"NMNAT1(NM_001297778.1):c.634G>A (p.V212M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000933615"	"0"	"90"	"1"	"10042426"	"10042426"	"subst"	"3.65551E-5"	"04552"	"NMNAT1_000001"	"g.10042426G>A"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	"rs371526758"	""	""	""	""	"{CV:265453}"	"pathogenic"	"ACMG"
"0000933616"	"0"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"04552"	"NMNAT1_000002"	"g.10042688G>A"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	"rs150726175"	""	""	""	""	"{CV:37134}"	"pathogenic"	"ACMG"
"0000944537"	"1"	"70"	"1"	"10030273"	"10032508"	"del"	"0"	"04542"	"NMNAT1_000117"	"g.10030273_10032508del"	""	"{PMID:de Bruijn 2023:36524988}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.9970211_9972447del"	""	"likely pathogenic (recessive)"	""
"0000955403"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:de Bruijn 2023:36524988}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic (recessive)"	""
"0000958606"	"0"	"70"	"1"	"10042553"	"10042553"	"subst"	"5.28056E-5"	"00006"	"NMNAT1_000069"	"g.10042553G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM1, PP2, PP5"	"Germline"	""	""	"0"	""	""	"g.9982495G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000958941"	"0"	"50"	"1"	"10016913"	"10042044"	"dup"	"0"	"00006"	"NMNAT1_000118"	"g.10016913_10042044dup"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2"	"Germline"	""	""	"0"	""	""	"g.9956855_9981986dup"	""	"VUS"	"ACMG"
"0000959381"	"0"	"70"	"1"	"10042629"	"10042629"	"subst"	"4.46893E-5"	"00006"	"NMNAT1_000085"	"g.10042629G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PM5, PM1, PP2"	"Germline"	""	""	"0"	""	""	"g.9982571G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000973128"	"0"	"30"	"1"	"10032249"	"10032249"	"subst"	"0.00499251"	"01804"	"NMNAT1_000054"	"g.10032249A>G"	""	""	""	"NMNAT1(NM_001297778.1):c.115+3A>G, NMNAT1(NM_022787.4):c.115+3A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000973135"	"0"	"50"	"1"	"10042407"	"10042407"	"subst"	"0"	"01804"	"NMNAT1_000119"	"g.10042407T>C"	""	""	""	"NMNAT1(NM_022787.4):c.488T>C (p.(Phe163Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000986470"	"1"	"70"	"1"	"10035689"	"10035689"	"subst"	"4.0659E-6"	"04405"	"NMNAT1_000077"	"g.10035689G>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9975631G>T"	""	"likely pathogenic"	"ACMG"
"0000986471"	"1"	"50"	"1"	"10003561"	"10003561"	"subst"	"0"	"04405"	"NMNAT1_000016"	"g.10003561C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9943503C>T"	""	"VUS"	"ACMG"
"0000986472"	"1"	"90"	"1"	"10032184"	"10032184"	"subst"	"1.62648E-5"	"04405"	"NMNAT1_000003"	"g.10032184A>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9972126A>G"	""	"pathogenic"	"ACMG"
"0000986473"	"3"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"04405"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	"ACMG"
"0000986938"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"04405"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	"ACMG"
"0000986939"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"04405"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	"ACMG"
"0000986940"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"04405"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	"ACMG"
"0000987034"	"0"	"90"	"1"	"10035739"	"10035739"	"subst"	"8.12282E-6"	"00006"	"NMNAT1_000030"	"g.10035739A>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"case unsolved"	"Germline"	""	""	"0"	""	""	"g.9975681A>G"	""	"pathogenic"	"ACMG"
"0000987061"	"0"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"case unsolved"	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	"ACMG"
"0000987164"	"0"	"70"	"1"	"10042481"	"10042481"	"subst"	"4.06164E-6"	"00006"	"NMNAT1_000019"	"g.10042481C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"case unsolved"	"Germline"	""	""	"0"	""	""	"g.9982423C>T"	""	"likely pathogenic"	"ACMG"
"0000987304"	"0"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"no variant 2nd chromosome, case unsolved"	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	"ACMG"
"0000987307"	"0"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"00006"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"no variant 2nd chromosome, case unsolved"	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic"	"ACMG"
"0000987645"	"3"	"90"	"1"	"10032156"	"10032156"	"subst"	"0"	"04543"	"NMNAT1_000028"	"g.10032156G>A"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PM2, PM1, PP2, PP3, PP1, PP5"	"Germline"	"yes"	""	"0"	""	""	"g.9972098G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000987646"	"3"	"90"	"1"	"10032156"	"10032156"	"subst"	"0"	"04543"	"NMNAT1_000028"	"g.10032156G>A"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PM2, PM1, PP2, PP3, PP1, PP5"	"Germline"	"yes"	""	"0"	""	""	"g.9972098G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000987647"	"3"	"90"	"1"	"10032156"	"10032156"	"subst"	"0"	"04543"	"NMNAT1_000028"	"g.10032156G>A"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PM2, PM1, PP2, PP3, PP1, PP5"	"Germline"	"yes"	""	"0"	""	""	"g.9972098G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000987648"	"3"	"90"	"1"	"10032156"	"10032156"	"subst"	"0"	"04543"	"NMNAT1_000028"	"g.10032156G>A"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PM2, PM1, PP2, PP3, PP1, PP5"	"Germline"	"yes"	""	"0"	""	""	"g.9972098G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000987649"	"3"	"90"	"1"	"10032156"	"10032156"	"subst"	"0"	"04543"	"NMNAT1_000028"	"g.10032156G>A"	""	"{PMID:Basharat 2024:38815792}"	""	""	"ACMG PM2, PM1, PP2, PP3, PP1, PP5"	"Germline"	"yes"	""	"0"	""	""	"g.9972098G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000990041"	"0"	"70"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"01804"	"NMNAT1_000002"	"g.10042688G>A"	""	""	""	"NMNAT1(NM_001297778.1):c.769G>A (p.E257K), NMNAT1(NM_022787.3):c.769G>A (p.E257K, p.(Glu257Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001030212"	"1"	"90"	"1"	"10032286"	"10032287"	"ins"	"0"	"02230"	"NMNAT1_000122"	"g.10032286_10032287ins[G;NC_000006.12:g.123168921_123171435inv;A[38];GACTAGAGAACC]"	""	"{PMID:Capasso 2025:40251809}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9972228_9972229ins[G;NC_000006.12:g.122847777_122850290inv;A[38];GACTAGAGAACC]"	""	"pathogenic (recessive)"	""
"0001030213"	"1"	"90"	"1"	"10032286"	"10032287"	"ins"	"0"	"02230"	"NMNAT1_000122"	"g.10032286_10032287ins[G;NC_000006.12:g.123168921_123171435inv;A[38];GACTAGAGAACC]"	""	"{PMID:Capasso 2025:40251809}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9972228_9972229ins[G;NC_000006.12:g.122847777_122850290inv;A[38];GACTAGAGAACC]"	""	"pathogenic (recessive)"	""
"0001030214"	"1"	"90"	"1"	"10032286"	"10032287"	"ins"	"0"	"02230"	"NMNAT1_000122"	"g.10032286_10032287ins[G;NC_000006.12:g.123168921_123171435inv;A[38];GACTAGAGAACC]"	""	"{PMID:Capasso 2025:40251809}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9972228_9972229ins[G;NC_000006.12:g.122847777_122850290inv;A[38];GACTAGAGAACC]"	""	"pathogenic (recessive)"	""
"0001030215"	"1"	"90"	"1"	"10032286"	"10032287"	"ins"	"0"	"02230"	"NMNAT1_000122"	"g.10032286_10032287ins[G;NC_000006.12:g.123168921_123171435inv;A[38];GACTAGAGAACC]"	""	"{PMID:Capasso 2025:40251809}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9972228_9972229ins[G;NC_000006.12:g.122847777_122850290inv;A[38];GACTAGAGAACC]"	""	"pathogenic (recessive)"	""
"0001030216"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"02230"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Capasso 2025:40251809}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic (recessive)"	""
"0001030217"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"02230"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Capasso 2025:40251809}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic (recessive)"	""
"0001030218"	"2"	"70"	"1"	"10042553"	"10042553"	"subst"	"5.28056E-5"	"02230"	"NMNAT1_000069"	"g.10042553G>A"	""	"{PMID:Capasso 2025:40251809}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982495G>A"	""	"likely pathogenic (recessive)"	""
"0001030219"	"2"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"02230"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Capasso 2025:40251809}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic (recessive)"	""
"0001030220"	"2"	"90"	"1"	"10003574"	"10003574"	"del"	"0"	"02230"	"NMNAT1_000120"	"g.10003574del"	""	"{PMID:Capasso 2025:40251809}"	""	""	"long-read RNA seq shows no RNA expression; ACMG PVS1, PM2, PM3, PP3"	"Germline"	""	""	"0"	""	""	"g.9943516del"	""	"pathogenic (recessive)"	"ACMG"
"0001030221"	"1"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"02230"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Capasso 2025:40251809}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic (recessive)"	""
"0001030222"	"1"	"90"	"1"	"10042688"	"10042688"	"subst"	"0.000703241"	"02230"	"NMNAT1_000002"	"g.10042688G>A"	""	"{PMID:Capasso 2025:40251809}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.9982630G>A"	""	"pathogenic (recessive)"	""
"0001030223"	"2"	"90"	"1"	"10003573"	"10003573"	"subst"	"0"	"02230"	"NMNAT1_000121"	"g.10003573G>A"	""	"{PMID:Capasso 2025:40251809}"	""	""	"ACMG PVS1, PM2, PM3, PP3; RNA expression G allele 0.15"	"Germline"	""	""	"0"	""	""	"g.9943515G>A"	""	"pathogenic (recessive)"	"ACMG"
"0001030985"	"0"	"50"	"1"	"10032164"	"10032166"	"del"	"0"	"01804"	"NMNAT1_000123"	"g.10032164_10032166del"	""	""	""	"NMNAT1(NM_022787.4):c.33_35del (p.(Leu12del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001030986"	"0"	"50"	"1"	"10032189"	"10032189"	"subst"	"0"	"01804"	"NMNAT1_000124"	"g.10032189A>G"	""	""	""	"NMNAT1(NM_022787.4):c.58A>G (p.(Ile20Val))"	"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 NMNAT1
## Count = 420
"{{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}}"
"0000021311"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000021312"	"00014647"	"70"	"617"	"0"	"617"	"0"	"c.617A>G"	"r.(?)"	"p.(His206Arg)"	"5"
"0000058961"	"00014647"	"70"	"109"	"0"	"109"	"0"	"c.109G>A"	"r.(?)"	"p.(Gly37Arg)"	"2"
"0000058962"	"00014647"	"70"	"53"	"0"	"53"	"0"	"c.53A>G"	"r.(?)"	"p.(Asn18Ser)"	"2"
"0000073964"	"00014647"	"70"	"-70"	"0"	"-70"	"0"	"c.-70A>T"	"r.(?)"	"p.(=)"	"1"
"0000073965"	"00014647"	"70"	"-69"	"0"	"-69"	"0"	"c.-69C>T"	"r.(?)"	"p.(=)"	"1"
"0000074441"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5"
"0000074442"	"00014647"	"70"	"300"	"-1326"	"14352"	"0"	"c.300-1326_*13512del"	"r.0?"	"p.0?"	"3i_5_"
"0000074443"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5"
"0000074444"	"00014647"	"70"	"299"	"2452"	"1115"	"0"	"c.299+2452_*275del"	"r.spl?"	"p.?"	"3i_5"
"0000074445"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000074446"	"00014647"	"70"	"364"	"0"	"364"	"0"	"c.364del"	"r.(?)"	"p.(Arg122Glyfs*20)"	"4"
"0000074447"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000074448"	"00014647"	"70"	"542"	"0"	"542"	"0"	"c.542A>G"	"r.(?)"	"p.(Tyr181Cys)"	"5"
"0000074449"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000074451"	"00014647"	"70"	"679"	"0"	"679"	"0"	"c.679C>T"	"r.(?)"	"p.(Arg227Trp)"	"5"
"0000074453"	"00014647"	"50"	"562"	"0"	"562"	"0"	"c.562C>T"	"r.(?)"	"p.(Arg188Trp)"	"5"
"0000074454"	"00014647"	"50"	"53"	"0"	"53"	"0"	"c.53A>G"	"r.(?)"	"p.(Asn18Ser)"	"2"
"0000074555"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000074556"	"00014647"	"90"	"817"	"0"	"817"	"0"	"c.817A>G"	"r.(?)"	"p.(Asn273Asp)"	"5"
"0000074557"	"00014647"	"90"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	"5"
"0000074558"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000074559"	"00014647"	"90"	"451"	"0"	"451"	"0"	"c.451G>A"	"r.(?)"	"p.(Val151Phe)"	"5"
"0000074560"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000074561"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000074562"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	"5"
"0000074563"	"00014647"	"90"	"710"	"0"	"710"	"0"	"c.710G>T"	"r.(?)"	"p.(Arg237Leu)"	"5"
"0000074564"	"00014647"	"90"	"199"	"0"	"199"	"0"	"c.199G>T"	"r.(?)"	"p.(Val67Phe)"	"3"
"0000074565"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000074566"	"00014647"	"90"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Ala13Thr)"	"2"
"0000074567"	"00014647"	"90"	"293"	"0"	"293"	"0"	"c.293T>G"	"r.(?)"	"p.(Val98Gly)"	"3"
"0000074568"	"00014647"	"90"	"838"	"0"	"838"	"0"	"c.838T>C"	"r.(?)"	"p.(*280Gln)"	"5"
"0000075166"	"00014647"	"90"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	"2"
"0000075168"	"00014647"	"90"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	"3"
"0000075169"	"00014647"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5"
"0000075170"	"00014647"	"90"	"205"	"0"	"205"	"0"	"c.205A>G"	"r.(?)"	"p.(Met69Val)"	"3"
"0000075171"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075172"	"00014647"	"90"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	"2"
"0000075536"	"00014647"	"90"	"565"	"0"	"565"	"0"	"c.565del"	"r.(?)"	"p.(Ala189Leufs*25)"	"5"
"0000075537"	"00014647"	"90"	"215"	"0"	"215"	"0"	"c.215T>A"	"r.(?)"	"p.(Leu72His)"	"3"
"0000075538"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075539"	"00014647"	"90"	"293"	"0"	"293"	"0"	"c.293T>G"	"r.(?)"	"p.(Val98Gly)"	"3"
"0000075540"	"00014647"	"90"	"293"	"0"	"293"	"0"	"c.293T>G"	"r.(?)"	"p.(Val98Gly)"	"3"
"0000075541"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075542"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075543"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075544"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075545"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075546"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075547"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075548"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075549"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075550"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075551"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075552"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075553"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075554"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075555"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075556"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075557"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075558"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075559"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075560"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075561"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075562"	"00014647"	"90"	"458"	"0"	"458"	"0"	"c.458T>C"	"r.(?)"	"p.(Leu153Pro)"	"5"
"0000075563"	"00014647"	"90"	"650"	"0"	"650"	"0"	"c.650T>A"	"r.(?)"	"p.(Ile217Asn)"	"5"
"0000075564"	"00014647"	"90"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.(?)"	"p.(Val178Met)"	"5"
"0000075565"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	"5"
"0000075566"	"00014647"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5"
"0000075567"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075568"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075569"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075570"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075571"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075572"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075573"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075574"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075575"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075576"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075577"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000075578"	"00014647"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5"
"0000075579"	"00014647"	"90"	"205"	"0"	"205"	"0"	"c.205A>G"	"r.(?)"	"p.(Met69Val)"	"3"
"0000075580"	"00014647"	"90"	"161"	"0"	"161"	"0"	"c.161C>T"	"r.(?)"	"p.(Ala54Val)"	"3"
"0000075581"	"00014647"	"90"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Ala13Thr)"	"2"
"0000075582"	"00014647"	"90"	"723"	"0"	"723"	"0"	"c.723del"	"r.(?)"	"p.(Asp242Ilefs*44)"	"5"
"0000075583"	"00014647"	"90"	"59"	"0"	"59"	"0"	"c.59T>A"	"r.(?)"	"p.(Ile20Asn)"	"2"
"0000075584"	"00014647"	"90"	"552"	"0"	"552"	"0"	"c.552A>G"	"r.(?)"	"p.(Ile184Met)"	"5"
"0000075585"	"00014647"	"90"	"466"	"0"	"466"	"0"	"c.466G>C"	"r.(?)"	"p.(Gly156Arg)"	"5"
"0000075586"	"00014647"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.0?"	"p.0?"	"5"
"0000075587"	"00014647"	"90"	"205"	"0"	"205"	"0"	"c.205A>G"	"r.(?)"	"p.(Met69Val)"	"3"
"0000075588"	"00014647"	"90"	"364"	"0"	"364"	"0"	"c.364del"	"r.(?)"	"p.(Arg122Glyfs*20)"	"4"
"0000075589"	"00014647"	"90"	"439"	"0"	"439"	"0"	"c.439G>C"	"r.(spl?)"	"p.(?)"	"4"
"0000075590"	"00014647"	"90"	"439"	"1"	"439"	"1"	"c.439+1G>C"	"r.spl?"	"p.?"	"4i"
"0000075591"	"00014647"	"90"	"518"	"0"	"518"	"0"	"c.518A>G"	"r.(?)"	"p.(Asp173Gly)"	"5"
"0000075592"	"00014647"	"90"	"542"	"0"	"542"	"0"	"c.542A>G"	"r.(?)"	"p.(Tyr181Cys)"	"5"
"0000075593"	"00014647"	"90"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	"5"
"0000075594"	"00014647"	"90"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	"5"
"0000075595"	"00014647"	"90"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	"5"
"0000075596"	"00014647"	"90"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	"5"
"0000075597"	"00014647"	"90"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	"5"
"0000075598"	"00014647"	"90"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	"5"
"0000075599"	"00014647"	"90"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	"5"
"0000075600"	"00014647"	"90"	"643"	"0"	"643"	"0"	"c.643G>T"	"r.(?)"	"p.(Glu215*)"	"5"
"0000075601"	"00014647"	"90"	"752"	"0"	"752"	"0"	"c.752A>C"	"r.(?)"	"p.(His251Pro)"	"5"
"0000075602"	"00014647"	"90"	"716"	"0"	"716"	"0"	"c.716T>C"	"r.(?)"	"p.(Leu239Ser)"	"5"
"0000075603"	"00014647"	"90"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Ala13Thr)"	"2"
"0000075604"	"00014647"	"90"	"205"	"0"	"205"	"0"	"c.205A>G"	"r.(?)"	"p.(Met69Val)"	"3"
"0000075605"	"00014647"	"90"	"364"	"0"	"364"	"0"	"c.364del"	"r.(?)"	"p.(Arg122Glyfs*20)"	"4"
"0000075606"	"00014647"	"90"	"319"	"0"	"319"	"0"	"c.319G>T"	"r.(?)"	"p.(Glu107*)"	"4"
"0000075607"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	"5"
"0000075608"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	"5"
"0000075609"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	"5"
"0000075610"	"00014647"	"70"	"457"	"0"	"457"	"0"	"c.457C>G"	"r.(?)"	"p.(Leu153Val)"	"5"
"0000075611"	"00014647"	"90"	"293"	"0"	"293"	"0"	"c.293T>G"	"r.(?)"	"p.(Val98Gly)"	"3"
"0000075612"	"00014647"	"90"	"451"	"0"	"451"	"0"	"c.451G>T"	"r.(?)"	"p.(Val151Phe)"	"5"
"0000075613"	"00014647"	"90"	"104"	"0"	"104"	"0"	"c.104T>C"	"r.(?)"	"p.(Met35Thr)"	"3"
"0000075614"	"00014647"	"90"	"104"	"0"	"104"	"0"	"c.104T>C"	"r.(?)"	"p.(Met35Thr)"	"3"
"0000075615"	"00014647"	"90"	"255"	"0"	"255"	"0"	"c.255G>A"	"r.(?)"	"p.(Trp85*)"	"5"
"0000075616"	"00014647"	"90"	"255"	"0"	"255"	"0"	"c.255G>A"	"r.(?)"	"p.(Trp85*)"	"5"
"0000075617"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	"5"
"0000075618"	"00014647"	"70"	"817"	"0"	"817"	"0"	"c.817A>G"	"r.(?)"	"p.(Asn273Asp)"	"5"
"0000245403"	"00014647"	"10"	"115"	"3"	"115"	"3"	"c.115+3A>G"	"r.spl?"	"p.?"	""
"0000245592"	"00014647"	"50"	"166"	"0"	"166"	"0"	"c.166A>G"	"r.(?)"	"p.(Lys56Glu)"	""
"0000254167"	"00014647"	"30"	"115"	"3"	"115"	"3"	"c.115+3A>G"	"r.spl?"	"p.?"	""
"0000293130"	"00014647"	"50"	"418"	"0"	"418"	"0"	"c.418T>A"	"r.(?)"	"p.(Ser140Thr)"	""
"0000293131"	"00014647"	"10"	"439"	"83"	"439"	"83"	"c.439+83del"	"r.(=)"	"p.(=)"	""
"0000293133"	"00014647"	"70"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	""
"0000304223"	"00014647"	"10"	"764"	"0"	"764"	"0"	"c.764G>A"	"r.(?)"	"p.(Ser255Asn)"	""
"0000304224"	"00014647"	"50"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000341166"	"00014647"	"70"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Ala13Thr)"	""
"0000343238"	"00014647"	"90"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000345300"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000346913"	"00014647"	"70"	"457"	"0"	"457"	"0"	"c.457C>G"	"r.(?)"	"p.(Leu153Val)"	""
"0000408349"	"00014647"	"10"	"-173"	"0"	"-173"	"0"	"c.-173G>C"	"r.(=)"	"p.(=)"	"_1"
"0000408350"	"00014647"	"10"	"115"	"354"	"115"	"354"	"c.115+354A>G"	"r.(?)"	"p.(=)"	"21"
"0000408351"	"00014647"	"10"	"116"	"-177"	"116"	"-177"	"c.116-177T>C"	"r.(?)"	"p.(=)"	"2i"
"0000408352"	"00014647"	"10"	"299"	"176"	"299"	"176"	"c.299+176G>A"	"r.(?)"	"p.(=)"	"3i"
"0000408353"	"00014647"	"30"	"440"	"-226"	"440"	"-226"	"c.440-226C>T"	"r.(?)"	"p.(=)"	"4i"
"0000408354"	"00014647"	"10"	"856"	"0"	"856"	"0"	"c.*16A>G"	"r.(?)"	"p.(=)"	"5"
"0000408355"	"00014647"	"10"	"1539"	"0"	"1539"	"0"	"c.*699A>G"	"r.(?)"	"p.(=)"	"5"
"0000408356"	"00014647"	"30"	"3233"	"0"	"3233"	"0"	"c.*2393C>G"	"r.(?)"	"p.(=)"	"5"
"0000438682"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	""
"0000438683"	"00014647"	"90"	"634"	"0"	"634"	"0"	"c.634G>A"	"r.(?)"	"p.(Val212Met)"	""
"0000502191"	"00014647"	"30"	"450"	"0"	"450"	"0"	"c.450G>C"	"r.(?)"	"p.(Lys150Asn)"	""
"0000502192"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169Ter)"	""
"0000502193"	"00014647"	"70"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	""
"0000502194"	"00014647"	"10"	"856"	"0"	"856"	"0"	"c.*16A>G"	"r.(=)"	"p.(=)"	""
"0000604534"	"00014647"	"50"	"275"	"0"	"275"	"0"	"c.275G>A"	"r.(?)"	"p.(Trp92*)"	"3"
"0000604535"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"3/5"
"0000604536"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	"3/5"
"0000604537"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5/5"
"0000604538"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	"3/5"
"0000604539"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5/5"
"0000604540"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	"3/5"
"0000604541"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5/5"
"0000604542"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	"3/5"
"0000604543"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5/5"
"0000604544"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	"3/5"
"0000604545"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5/5"
"0000604546"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	"3/5"
"0000604547"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5/5"
"0000604548"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5/5"
"0000604549"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5/5"
"0000604576"	"00014647"	"50"	"440"	"-1"	"841"	"0"	"c.(439+1_440-1)_(*1_?)del"	"r.(?)"	"p.(Ala147_Thr279delinsGlyIleLeuGlnHisAspIleSerAspPheProPheGlyAspLeuLysGlnSerGlySer)"	"4i_5_"
"0000604577"	"00014647"	"70"	"116"	"-1"	"299"	"1"	"c.(115+1_116-1)_(299+1_300-1)del"	"r.spl"	"p.?"	""
"0000604595"	"00014647"	"30"	"78"	"0"	"78"	"0"	"c.78G>A"	"r.(?)"	"p.(Arg26=)"	""
"0000604603"	"00014647"	"50"	"504"	"0"	"504"	"0"	"c.504G>C"	"r.(?)"	"p.(Leu168Phe)"	""
"0000647316"	"00014647"	"90"	"457"	"0"	"457"	"0"	"c.457C>G"	"r.(?)"	"p.(Leu153Val)"	""
"0000675377"	"00014647"	"90"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	""
"0000684416"	"00014647"	"70"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	"5"
"0000684417"	"00014647"	"70"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	"5"
"0000684435"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000684436"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000684542"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000685298"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000687788"	"00014647"	"30"	"66"	"0"	"66"	"0"	"c.66C>T"	"r.(?)"	"p.(Asn22=)"	""
"0000710365"	"00014647"	"50"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000713308"	"00014647"	"90"	"485"	"0"	"485"	"0"	"c.485C>A"	"r.(?)"	"p.(Ser162Tyr)"	""
"0000713358"	"00014647"	"90"	"155"	"0"	"155"	"0"	"c.155G>T"	"r.(?)"	"p.(Gly52Val)"	""
"0000713481"	"00014647"	"90"	"661"	"0"	"662"	"0"	"c.661_662insA"	"r.(?)"	"p.(Ile221Asnfs*29)"	""
"0000713707"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000713737"	"00014647"	"90"	"736"	"0"	"736"	"0"	"c.736G>C"	"r.(?)"	"p.(Glu246Gln)"	""
"0000713801"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000731146"	"00014647"	"90"	"293"	"0"	"293"	"0"	"c.293T>G"	"r.(?)"	"p.(Val98Gly)"	""
"0000731171"	"00014647"	"90"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Ala13Thr)"	""
"0000731267"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000731268"	"00014647"	"70"	"500"	"0"	"500"	"0"	"c.500A>G"	"r.(?)"	"p.(Asn167Ser)"	""
"0000731269"	"00014647"	"70"	"364"	"0"	"364"	"0"	"c.364del"	"r.(?)"	"p.(Arg122Glyfs*20)"	""
"0000731289"	"00014647"	"70"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	""
"0000731290"	"00014647"	"70"	"364"	"0"	"364"	"0"	"c.364del"	"r.(?)"	"p.(Arg122Glyfs*20)"	""
"0000731291"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000731311"	"00014647"	"90"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000731312"	"00014647"	"90"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000731313"	"00014647"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000731338"	"00014647"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000731339"	"00014647"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000731436"	"00014647"	"70"	"53"	"0"	"53"	"0"	"c.53A>G"	"r.(?)"	"p.(Asn18Ser)"	""
"0000731455"	"00014647"	"70"	"542"	"0"	"542"	"0"	"c.542A>G"	"r.(?)"	"p.(Tyr181Cys)"	""
"0000733176"	"00014647"	"70"	"103"	"0"	"103"	"0"	"c.103A>G"	"r.(?)"	"p.(Met35Val)"	""
"0000733187"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000733188"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000733189"	"00014647"	"70"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	""
"0000733613"	"00014647"	"70"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	""
"0000733621"	"00014647"	"70"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	""
"0000733622"	"00014647"	"70"	"65"	"0"	"65"	"0"	"c.65A>G"	"r.(?)"	"p.(Asn22Ser)"	""
"0000733623"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000736160"	"00014647"	"70"	"-57"	"7"	"-57"	"7"	"c.-57+7T>G"	"r.spl?"	"p.(?)"	""
"0000736161"	"00014647"	"70"	"710"	"0"	"710"	"0"	"c.710G>A"	"r.(?)"	"p.(Arg237His)"	""
"0000759837"	"00014647"	"70"	"695"	"0"	"695"	"0"	"c.695G>A"	"r.(?)"	"p.(Arg232Lys)"	""
"0000759838"	"00014647"	"70"	"43"	"0"	"43"	"0"	"c.43G>A"	"r.(?)"	"p.(Gly15Ser)"	""
"0000759839"	"00014647"	"70"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Pro241Ser)"	""
"0000759840"	"00014647"	"70"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	""
"0000759841"	"00014647"	"70"	"500"	"0"	"500"	"0"	"c.500A>G"	"r.(?)"	"p.(Asn167Ser)"	""
"0000759871"	"00014647"	"70"	"634"	"0"	"634"	"0"	"c.634G>A"	"r.(?)"	"p.(Val212Met)"	""
"0000759872"	"00014647"	"70"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Pro241Ser)"	""
"0000759873"	"00014647"	"70"	"668"	"0"	"668"	"0"	"c.668C>T"	"r.(?)"	"p.(Ser223Phe)"	""
"0000760661"	"00014647"	"90"	"197"	"0"	"197"	"0"	"c.197G>A"	"r.(?)"	"p.(Arg66Gln)"	""
"0000760679"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000783859"	"00014647"	"50"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000783860"	"00014647"	"50"	"116"	"-2"	"116"	"-2"	"c.116-2A>G"	"r.spl"	"p.?"	""
"0000783861"	"00014647"	"50"	"713"	"0"	"713"	"0"	"c.713A>G"	"r.(?)"	"p.(Tyr238Cys)"	""
"0000783953"	"00014647"	"50"	"713"	"0"	"713"	"0"	"c.713A>G"	"r.(?)"	"p.(Tyr238Cys)"	""
"0000783954"	"00014647"	"50"	"634"	"0"	"634"	"0"	"c.634G>A"	"r.(?)"	"p.(Val212Met)"	""
"0000783955"	"00014647"	"50"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Pro241Ser)"	""
"0000786420"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169Ter)"	""
"0000786425"	"00014647"	"90"	"761"	"0"	"761"	"0"	"c.761A>G"	"r.(?)"	"p.(Tyr254Cys)"	""
"0000786427"	"00014647"	"90"	"53"	"0"	"53"	"0"	"c.53A>G"	"r.(?)"	"p.(Asn18Ser)"	""
"0000786428"	"00014647"	"90"	"197"	"0"	"197"	"0"	"c.197G>A"	"r.(?)"	"p.(Arg66Gln)"	""
"0000786480"	"00014647"	"90"	"634"	"0"	"634"	"0"	"c.634G>A"	"r.(?)"	"p.(Val212Met)"	""
"0000786484"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000786485"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000788318"	"00014647"	"50"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5"
"0000790739"	"00014647"	"70"	"205"	"0"	"205"	"0"	"c.205A>G"	"r.(?)"	"p.(Met69Val)"	""
"0000790746"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000791574"	"00014647"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5"
"0000791590"	"00014647"	"90"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	"3"
"0000791600"	"00014647"	"90"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	"3"
"0000791603"	"00014647"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(?)"	"2"
"0000791628"	"00014647"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5"
"0000791636"	"00014647"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	"5"
"0000792333"	"00014647"	"70"	"-57"	"21"	"-57"	"21"	"c.-57+21C>T"	"r.(=)"	"p.(=)"	""
"0000792334"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000792395"	"00014647"	"70"	"-57"	"21"	"-57"	"21"	"c.-57+21C>T"	"r.(=)"	"p.(=)"	""
"0000792396"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000792399"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000792400"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000794036"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000794037"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000794078"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000794338"	"00014647"	"70"	"710"	"0"	"710"	"0"	"c.710G>A"	"r.(?)"	"p.(Arg237His)"	"5"
"0000794339"	"00014647"	"90"	"179"	"0"	"180"	"0"	"c.179_180insA"	"r.(?)"	"p.(Ile61Hisfs*18)"	"3"
"0000794721"	"00014647"	"70"	"29"	"0"	"29"	"0"	"c.29T>G"	"r.(?)"	"p.(Val10Gly)"	""
"0000794722"	"00014647"	"70"	"710"	"0"	"710"	"0"	"c.710G>A"	"r.(?)"	"p.(Arg237His)"	""
"0000794882"	"00014647"	"70"	"-1"	"0"	"115"	"1"	"c.(?_-1)_(115+1_116-1)del"	"r.?"	"p.?"	""
"0000795995"	"00014647"	"30"	"710"	"0"	"710"	"0"	"c.710G>A"	"r.(?)"	"p.(Arg237His)"	"5"
"0000796182"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000796183"	"00014647"	"70"	"617"	"0"	"617"	"0"	"c.617A>G"	"r.(?)"	"p.(His206Arg)"	"5"
"0000796998"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	"5"
"0000796999"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000797180"	"00014647"	"70"	"12"	"0"	"12"	"0"	"c.12dup"	"r.(?)"	"p.(Glu5Argfs*4)"	""
"0000797204"	"00014647"	"50"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000812778"	"00014647"	"70"	"695"	"0"	"695"	"0"	"c.695G>A"	"r.(?)"	"p.(Arg232Lys)"	""
"0000813730"	"00014647"	"90"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000813790"	"00014647"	"90"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Pro241Ser)"	""
"0000816092"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000816418"	"00014647"	"70"	"199"	"0"	"199"	"0"	"c.199G>T"	"r.(?)"	"p.(Val67Phe)"	""
"0000818438"	"00014647"	"90"	"275"	"0"	"275"	"0"	"c.275G>A"	"r.(?)"	"p.(Trp92*)"	""
"0000818439"	"00014647"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000818440"	"00014647"	"90"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000818441"	"00014647"	"90"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000818442"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000818443"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000818444"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000818445"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000818446"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000818447"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000818448"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000818449"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000818450"	"00014647"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000818451"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000818452"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000818453"	"00014647"	"70"	"300"	"-1"	"3637"	"0"	"c.(299+1_300-1)_(*2797_?)del"	"r.spl"	"p.(?)"	""
"0000818454"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000818455"	"00014647"	"70"	"-56"	"-1"	"115"	"1"	"c.(-57+1_-56-1)_(115+1_116-1)del"	"r.spl"	"p.(?)"	""
"0000818952"	"00014647"	"70"	"116"	"-1"	"299"	"1"	"c.(115+1_116-1)_(299+1_300-1)del"	"r.?"	"p.?"	"2i_3i"
"0000818953"	"00014647"	"70"	"634"	"0"	"634"	"0"	"c.634G>A"	"r.(?)"	"p.(Val212Met)"	"5"
"0000819610"	"00014647"	"70"	"629"	"0"	"629"	"0"	"c.629T>C"	"r.(?)"	"p.(Ile210Thr)"	""
"0000819650"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000819676"	"00014647"	"70"	"364"	"0"	"364"	"0"	"c.364del"	"r.(?)"	"p.(Arg122Glyfs*20)"	""
"0000819773"	"00014647"	"70"	"199"	"0"	"199"	"0"	"c.199G>T"	"r.(?)"	"p.(Val67Phe)"	""
"0000820364"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000820365"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000820678"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000820689"	"00014647"	"70"	"109"	"0"	"109"	"0"	"c.109G>A"	"r.(?)"	"p.(Gly37Arg)"	""
"0000820696"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000820716"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000820884"	"00014647"	"70"	"680"	"0"	"680"	"0"	"c.680G>A"	"r.(?)"	"p.(Arg227Gln)"	""
"0000820885"	"00014647"	"70"	"680"	"0"	"680"	"0"	"c.680G>A"	"r.(?)"	"p.(Arg227Gln)"	""
"0000820997"	"00014647"	"90"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	""
"0000821002"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000821003"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000821006"	"00014647"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.0"	"p.0"	""
"0000821309"	"00014647"	"70"	"485"	"0"	"485"	"0"	"c.485C>A"	"r.(?)"	"p.(Ser162Tyr)"	""
"0000821310"	"00014647"	"70"	"155"	"0"	"155"	"0"	"c.155G>T"	"r.(?)"	"p.(Gly52Val)"	""
"0000821311"	"00014647"	"70"	"661"	"0"	"661"	"0"	"c.661dup"	"r.(?)"	"p.(Ile221Asnfs*29)"	""
"0000821454"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000821581"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000821582"	"00014647"	"70"	"736"	"0"	"736"	"0"	"c.736G>C"	"r.(?)"	"p.(Glu246Gln)"	""
"0000821583"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000822045"	"00014647"	"70"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Ala13Thr)"	""
"0000822046"	"00014647"	"70"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Ala13Thr)"	""
"0000823257"	"00014647"	"50"	"553"	"0"	"553"	"0"	"c.553T>C"	"r.(?)"	"p.(Cys185Arg)"	""
"0000823289"	"00014647"	"50"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000823375"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000823376"	"00014647"	"70"	"-56"	"-1"	"439"	"1"	"c.(-57+1_-56-1)_(439+1_440-1)dup"	"r.spl"	"p.(?)"	"_2_4_"
"0000823377"	"00014647"	"50"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Ala13Thr)"	""
"0000823378"	"00014647"	"70"	"759"	"0"	"759"	"0"	"c.759delinsTA"	"r.(?)"	"p.(Leu253Phefs*5)"	""
"0000823379"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000823380"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000823381"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000823503"	"00014647"	"50"	"716"	"0"	"716"	"0"	"c.716T>C"	"r.(?)"	"p.(Leu239Ser)"	""
"0000823504"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000823505"	"00014647"	"50"	"293"	"0"	"293"	"0"	"c.293T>G"	"r.(?)"	"p.(Val98Gly)"	""
"0000823506"	"00014647"	"50"	"-57"	"21"	"-57"	"21"	"c.-57+21C>T"	"r.spl"	"p.(?)"	""
"0000823507"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	""
"0000823508"	"00014647"	"50"	"293"	"0"	"293"	"0"	"c.293T>G"	"r.(?)"	"p.(Val98Gly)"	""
"0000823509"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	""
"0000824663"	"00014647"	"90"	"116"	"-2"	"116"	"-2"	"c.116-2A>G"	"r.spl"	"p.?"	""
"0000824690"	"00014647"	"70"	"701"	"0"	"701"	"0"	"c.701A>G"	"r.(?)"	"p.(Gln234Arg)"	""
"0000824763"	"00014647"	"70"	"710"	"0"	"710"	"0"	"c.710G>A"	"r.(?)"	"p.(Arg237His)"	""
"0000824779"	"00014647"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237Cys)"	""
"0000825915"	"00014647"	"70"	"179"	"0"	"180"	"0"	"c.179_180insA"	"r.(?)"	"p.(Ile61Hisfs*18)"	"3"
"0000825916"	"00014647"	"70"	"710"	"0"	"710"	"0"	"c.710G>A"	"r.(?)"	"p.(Arg237His)"	"5"
"0000828873"	"00014647"	"70"	"205"	"0"	"205"	"0"	"c.205A>G"	"r.(?)"	"p.(Met69Val)"	""
"0000829458"	"00014647"	"70"	"59"	"0"	"59"	"0"	"c.59T>A"	"r.(?)"	"p.(Ile20Asn)"	"2"
"0000829460"	"00014647"	"50"	"65"	"0"	"65"	"0"	"c.65A>G"	"r.(?)"	"p.(Asn22Ser)"	"2"
"0000847352"	"00014647"	"90"	"272"	"0"	"272"	"0"	"c.272A>G"	"r.(?)"	"p.(Glu91Gly)"	"3"
"0000847353"	"00014647"	"90"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	"3"
"0000847368"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000847369"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000847370"	"00014647"	"70"	"53"	"0"	"53"	"0"	"c.53A>G"	"r.(?)"	"p.(Asn18Ser)"	"2"
"0000847371"	"00014647"	"70"	"472"	"0"	"472"	"0"	"c.472G>C"	"r.(?)"	"p.(Asp158His)"	"5"
"0000847372"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000847373"	"00014647"	"70"	"253"	"0"	"253"	"0"	"c.253T>C"	"r.(?)"	"p.(Trp85Arg)"	"3"
"0000847374"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000847375"	"00014647"	"70"	"617"	"0"	"617"	"0"	"c.617A>G"	"r.(?)"	"p.(His206Arg)"	"5"
"0000847376"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000847377"	"00014647"	"70"	"617"	"0"	"617"	"0"	"c.617A>G"	"r.(?)"	"p.(His206Arg)"	"5"
"0000847378"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000847379"	"00014647"	"70"	"595"	"0"	"595"	"0"	"c.595G>T"	"r.(?)"	"p.(Glu199*)"	"5"
"0000847380"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000847381"	"00014647"	"70"	"731"	"0"	"731"	"0"	"c.731T>C"	"r.(?)"	"p.(Val244Ala)"	"5"
"0000847382"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000847383"	"00014647"	"70"	"619"	"0"	"619"	"0"	"c.619C>T"	"r.(?)"	"p.(Arg207Trp)"	"5"
"0000847384"	"00014647"	"90"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Pro241Ser)"	"5"
"0000847385"	"00014647"	"90"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Pro241Ser)"	"5"
"0000847386"	"00014647"	"90"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	"2"
"0000847388"	"00014647"	"90"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	"2"
"0000847389"	"00014647"	"90"	"500"	"0"	"500"	"0"	"c.500A>G"	"r.(?)"	"p.(Asn167Ser)"	"5"
"0000847391"	"00014647"	"90"	"500"	"0"	"500"	"0"	"c.500A>G"	"r.(?)"	"p.(Asn167Ser)"	"5"
"0000847392"	"00014647"	"70"	"271"	"0"	"271"	"0"	"c.271G>A"	"r.(?)"	"p.(Glu91Lys)"	"3"
"0000847393"	"00014647"	"90"	"53"	"0"	"53"	"0"	"c.53A>G"	"r.(?)"	"p.(Asn18Ser)"	"2"
"0000847394"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000847395"	"00014647"	"90"	"299"	"526"	"1808"	"0"	"c.299+526_*968del"	"r.?"	"p.?"	"3i_5"
"0000847396"	"00014647"	"90"	"299"	"526"	"1808"	"0"	"c.299+526_*968del"	"r.?"	"p.?"	"3i_5"
"0000847397"	"00014647"	"90"	"299"	"526"	"1808"	"0"	"c.299+526_*968del"	"r.?"	"p.?"	"3i_5"
"0000848197"	"00014647"	"70"	"197"	"0"	"197"	"0"	"c.197G>A"	"r.(?)"	"p.(Arg66Gln)"	""
"0000881432"	"00014647"	"70"	"671"	"0"	"671"	"0"	"c.671C>A"	"r.(?)"	"p.(Thr224Lys)"	""
"0000881460"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000896474"	"00014647"	"70"	"205"	"0"	"205"	"0"	"c.205A>G"	"r.(?)"	"p.(Met69Val)"	""
"0000910722"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000916511"	"00014647"	"70"	"54"	"0"	"54"	"0"	"c.54T>A"	"r.(?)"	"p.(Asn18Lys)"	"2"
"0000916512"	"00014647"	"70"	"634"	"0"	"634"	"0"	"c.634G>A"	"r.(?)"	"p.(Val212Met)"	"5"
"0000916520"	"00014647"	"70"	"193"	"0"	"193"	"0"	"c.193C>T"	"r.(?)"	"p.(His65Tyr)"	"3"
"0000916610"	"00014647"	"70"	"457"	"0"	"457"	"0"	"c.457C>G"	"r.(?)"	"p.(Leu153Val)"	"5"
"0000916611"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.[769G>A;817A>G]"	"r.(?)"	"p.[Glu257Lys;Asn273Asp]"	"5"
"0000916612"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.[769G>A;817A>G]"	"r.(?)"	"p.[Glu257Lys;Asn273Asp]"	"5"
"0000927959"	"00014647"	"70"	"466"	"0"	"466"	"0"	"c.466G>A"	"r.(?)"	"p.(Gly156Arg)"	""
"0000927960"	"00014647"	"90"	"634"	"0"	"634"	"0"	"c.634G>A"	"r.(?)"	"p.(Val212Met)"	""
"0000933615"	"00014647"	"90"	"507"	"0"	"507"	"0"	"c.507G>A"	"r.(?)"	"p.(Trp169*)"	""
"0000933616"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000944537"	"00014647"	"70"	"-56"	"-1803"	"115"	"262"	"c.-56-1803_115+262del"	"r.?"	"p.?"	"1i_2i"
"0000955403"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000958606"	"00014647"	"70"	"634"	"0"	"634"	"0"	"c.634G>A"	"r.(?)"	"p.(Val212Met)"	""
"0000958941"	"00014647"	"50"	"-57"	"13340"	"440"	"-315"	"c.-57+13340_440-315dup"	"r.0?"	"p.0?"	""
"0000959381"	"00014647"	"70"	"710"	"0"	"710"	"0"	"c.710G>A"	"r.(?)"	"p.(Arg237His)"	""
"0000973128"	"00014647"	"30"	"115"	"3"	"115"	"3"	"c.115+3A>G"	"r.spl?"	"p.?"	""
"0000973135"	"00014647"	"50"	"488"	"0"	"488"	"0"	"c.488T>C"	"r.(?)"	"p.(Phe163Ser)"	""
"0000986470"	"00014647"	"70"	"155"	"0"	"155"	"0"	"c.155G>T"	"r.(?)"	"p.(Gly52Val)"	"3"
"0000986471"	"00014647"	"50"	"-69"	"0"	"-69"	"0"	"c.-69C>T"	"r.(?)"	"p.(?)"	"1"
"0000986472"	"00014647"	"90"	"53"	"0"	"53"	"0"	"c.53A>G"	"r.(?)"	"p.(Asn18Ser)"	"2"
"0000986473"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000986938"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000986939"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000986940"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	"5"
"0000987034"	"00014647"	"90"	"205"	"0"	"205"	"0"	"c.205A>G"	"r.(?)"	"p.(Met69Val)"	""
"0000987061"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000987164"	"00014647"	"70"	"562"	"0"	"562"	"0"	"c.562C>T"	"r.(?)"	"p.(Arg188Trp)"	""
"0000987304"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000987307"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0000987645"	"00014647"	"90"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	""
"0000987646"	"00014647"	"90"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	""
"0000987647"	"00014647"	"90"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	""
"0000987648"	"00014647"	"90"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	""
"0000987649"	"00014647"	"90"	"25"	"0"	"25"	"0"	"c.25G>A"	"r.(?)"	"p.(Val9Met)"	""
"0000990041"	"00014647"	"70"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Glu257Lys)"	""
"0001030212"	"00014647"	"90"	"115"	"40"	"115"	"41"	"c.115+40_115+41ins[G;NC_000006.12:g.122849419_122850290inv]"	"r.[115_116ins[NC_000006.12:g.123170563_123171435inv],=]"	"p.[Tyr41Ser*57,=]"	"2i"
"0001030213"	"00014647"	"90"	"115"	"40"	"115"	"41"	"c.115+40_115+41ins[G;NC_000006.12:g.122849419_122850290inv]"	"r.[115_116ins[NC_000006.12:g.123170563_123171435inv],=]"	"p.[Tyr41Ser*57,=]"	"2i"
"0001030214"	"00014647"	"90"	"115"	"40"	"115"	"41"	"c.115+40_115+41ins[G;NC_000006.12:g.122849419_122850290inv]"	"r.[115_116ins[NC_000006.12:g.123170563_123171435inv],=]"	"p.[Tyr41Ser*57,=]"	"2i"
"0001030215"	"00014647"	"90"	"115"	"40"	"115"	"41"	"c.115+40_115+41ins[G;NC_000006.12:g.122849419_122850290inv]"	"r.[115_116ins[NC_000006.12:g.123170563_123171435inv],=]"	"p.[Tyr41Ser*57,=]"	"2i"
"0001030216"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.769G>A"	"p.Glu257Lys"	""
"0001030217"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.769G>A"	"p.Glu257Lys"	""
"0001030218"	"00014647"	"70"	"634"	"0"	"634"	"0"	"c.634G>A"	"r.634G>A"	"p.Val212Met"	""
"0001030219"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.769G>A"	"p.Glu257Lys"	""
"0001030220"	"00014647"	"90"	"-57"	"1"	"-57"	"1"	"c.-57+1del"	"r.0"	"p.0"	"1i"
"0001030221"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.769G>A"	"p.Glu257Lys"	"5"
"0001030222"	"00014647"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.769G>A"	"p.Glu257Lys"	"5"
"0001030223"	"00014647"	"90"	"-57"	"0"	"-57"	"0"	"c.-57G>A"	"r.[0,=|0.15]"	"p.0,=]"	"1"
"0001030985"	"00014647"	"50"	"33"	"0"	"35"	"0"	"c.33_35del"	"r.(?)"	"p.(Leu12del)"	""
"0001030986"	"00014647"	"50"	"58"	"0"	"58"	"0"	"c.58A>G"	"r.(?)"	"p.(Ile20Val)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 391
"{{screeningid}}"	"{{variantid}}"
"0000002933"	"0000021311"
"0000002933"	"0000021312"
"0000032788"	"0000058961"
"0000032789"	"0000058962"
"0000046440"	"0000073964"
"0000046440"	"0000408349"
"0000046440"	"0000408350"
"0000046440"	"0000408351"
"0000046440"	"0000408352"
"0000046440"	"0000408353"
"0000046440"	"0000408354"
"0000046440"	"0000408355"
"0000046440"	"0000408356"
"0000046441"	"0000073965"
"0000046603"	"0000074441"
"0000046603"	"0000074442"
"0000046604"	"0000074443"
"0000046604"	"0000074444"
"0000046605"	"0000074445"
"0000046605"	"0000074446"
"0000046606"	"0000074447"
"0000046606"	"0000074448"
"0000046607"	"0000074449"
"0000046607"	"0000074451"
"0000046609"	"0000074453"
"0000046610"	"0000074454"
"0000046691"	"0000074555"
"0000046691"	"0000074556"
"0000046692"	"0000074557"
"0000046692"	"0000074558"
"0000046693"	"0000074559"
"0000046693"	"0000074560"
"0000046694"	"0000074561"
"0000046695"	"0000074562"
"0000046695"	"0000074563"
"0000046696"	"0000074564"
"0000046696"	"0000074565"
"0000046697"	"0000074566"
"0000046697"	"0000074567"
"0000046698"	"0000074568"
"0000046720"	"0000075166"
"0000046721"	"0000075168"
"0000046721"	"0000075169"
"0000046722"	"0000075170"
"0000046722"	"0000075171"
"0000046723"	"0000075172"
"0000046913"	"0000075536"
"0000046913"	"0000075578"
"0000046914"	"0000075537"
"0000046915"	"0000075538"
"0000046915"	"0000075579"
"0000046916"	"0000075539"
"0000046916"	"0000075580"
"0000046917"	"0000075540"
"0000046917"	"0000075581"
"0000046918"	"0000075541"
"0000046918"	"0000075582"
"0000046919"	"0000075542"
"0000046919"	"0000075583"
"0000046920"	"0000075543"
"0000046920"	"0000075584"
"0000046921"	"0000075544"
"0000046921"	"0000075585"
"0000046922"	"0000075545"
"0000046922"	"0000075586"
"0000046923"	"0000075546"
"0000046923"	"0000075587"
"0000046924"	"0000075547"
"0000046924"	"0000075588"
"0000046925"	"0000075548"
"0000046925"	"0000075589"
"0000046926"	"0000075549"
"0000046926"	"0000075590"
"0000046927"	"0000075550"
"0000046927"	"0000075591"
"0000046928"	"0000075551"
"0000046928"	"0000075592"
"0000046929"	"0000075552"
"0000046929"	"0000075593"
"0000046930"	"0000075553"
"0000046930"	"0000075594"
"0000046931"	"0000075554"
"0000046931"	"0000075595"
"0000046932"	"0000075555"
"0000046932"	"0000075596"
"0000046933"	"0000075556"
"0000046933"	"0000075597"
"0000046934"	"0000075557"
"0000046934"	"0000075598"
"0000046935"	"0000075558"
"0000046935"	"0000075599"
"0000046936"	"0000075559"
"0000046936"	"0000075600"
"0000046937"	"0000075560"
"0000046937"	"0000075601"
"0000046938"	"0000075561"
"0000046938"	"0000075602"
"0000046939"	"0000075562"
"0000046939"	"0000075603"
"0000046940"	"0000075563"
"0000046940"	"0000075604"
"0000046941"	"0000075564"
"0000046941"	"0000075605"
"0000046942"	"0000075565"
"0000046943"	"0000075566"
"0000046943"	"0000075606"
"0000046944"	"0000075567"
"0000046944"	"0000075607"
"0000046945"	"0000075568"
"0000046945"	"0000075608"
"0000046946"	"0000075569"
"0000046946"	"0000075609"
"0000046947"	"0000075570"
"0000046947"	"0000075610"
"0000046947"	"0000075618"
"0000046948"	"0000075571"
"0000046948"	"0000075611"
"0000046949"	"0000075572"
"0000046949"	"0000075612"
"0000046950"	"0000075573"
"0000046950"	"0000075613"
"0000046951"	"0000075574"
"0000046951"	"0000075614"
"0000046952"	"0000075575"
"0000046952"	"0000075615"
"0000046953"	"0000075576"
"0000046953"	"0000075616"
"0000046954"	"0000075577"
"0000046954"	"0000075617"
"0000145015"	"0000788318"
"0000208734"	"0000438682"
"0000208734"	"0000438683"
"0000270729"	"0000604534"
"0000270729"	"0000604535"
"0000270730"	"0000604536"
"0000270730"	"0000604537"
"0000270731"	"0000604538"
"0000270731"	"0000604539"
"0000270732"	"0000604540"
"0000270732"	"0000604541"
"0000270733"	"0000604542"
"0000270733"	"0000604543"
"0000270734"	"0000604544"
"0000270734"	"0000604545"
"0000270736"	"0000604546"
"0000270736"	"0000604547"
"0000270737"	"0000604548"
"0000270737"	"0000604576"
"0000270738"	"0000604549"
"0000270738"	"0000604577"
"0000290627"	"0000647316"
"0000309551"	"0000684416"
"0000309551"	"0000684435"
"0000309552"	"0000684417"
"0000309552"	"0000684436"
"0000309669"	"0000684542"
"0000310387"	"0000685298"
"0000326731"	"0000710365"
"0000329185"	"0000713308"
"0000329185"	"0000713707"
"0000329235"	"0000713358"
"0000329235"	"0000713737"
"0000329358"	"0000713481"
"0000329358"	"0000713801"
"0000333492"	"0000731146"
"0000333492"	"0000731171"
"0000333591"	"0000731267"
"0000333591"	"0000731289"
"0000333592"	"0000731268"
"0000333592"	"0000731290"
"0000333593"	"0000731269"
"0000333593"	"0000731291"
"0000333609"	"0000731311"
"0000333609"	"0000731338"
"0000333610"	"0000731312"
"0000333610"	"0000731339"
"0000333611"	"0000731313"
"0000333687"	"0000731436"
"0000333687"	"0000731455"
"0000335167"	"0000733176"
"0000335167"	"0000733613"
"0000335178"	"0000733187"
"0000335178"	"0000733621"
"0000335179"	"0000733188"
"0000335179"	"0000733622"
"0000335180"	"0000733189"
"0000335180"	"0000733623"
"0000336674"	"0000736160"
"0000336674"	"0000736161"
"0000360139"	"0000759837"
"0000360140"	"0000759838"
"0000360140"	"0000759871"
"0000360141"	"0000759839"
"0000360142"	"0000759840"
"0000360142"	"0000759872"
"0000360143"	"0000759841"
"0000360143"	"0000759873"
"0000360619"	"0000760661"
"0000360619"	"0000760679"
"0000373711"	"0000783859"
"0000373711"	"0000783953"
"0000373712"	"0000783860"
"0000373712"	"0000783954"
"0000373713"	"0000783861"
"0000373713"	"0000783955"
"0000375125"	"0000786420"
"0000375125"	"0000786480"
"0000375130"	"0000786425"
"0000375130"	"0000786484"
"0000375132"	"0000786427"
"0000375133"	"0000786428"
"0000375133"	"0000786485"
"0000378070"	"0000790739"
"0000378070"	"0000790746"
"0000378721"	"0000791574"
"0000378721"	"0000791603"
"0000378737"	"0000791590"
"0000378737"	"0000791628"
"0000378747"	"0000791600"
"0000378747"	"0000791636"
"0000379218"	"0000792333"
"0000379218"	"0000792334"
"0000379258"	"0000792395"
"0000379258"	"0000792396"
"0000379262"	"0000792399"
"0000379262"	"0000792400"
"0000380833"	"0000794036"
"0000380833"	"0000794037"
"0000380860"	"0000794078"
"0000380860"	"0000794882"
"0000381050"	"0000794338"
"0000381050"	"0000794339"
"0000381322"	"0000794721"
"0000381322"	"0000794722"
"0000382257"	"0000795995"
"0000382391"	"0000796182"
"0000382391"	"0000796183"
"0000383015"	"0000796998"
"0000383015"	"0000796999"
"0000383157"	"0000797180"
"0000383157"	"0000797204"
"0000385676"	"0000812778"
"0000386323"	"0000813730"
"0000386323"	"0000813790"
"0000387934"	"0000816092"
"0000387934"	"0000816418"
"0000389404"	"0000818438"
"0000389404"	"0000818439"
"0000389405"	"0000818440"
"0000389405"	"0000818441"
"0000389406"	"0000818442"
"0000389406"	"0000818443"
"0000389407"	"0000818444"
"0000389407"	"0000818445"
"0000389408"	"0000818446"
"0000389408"	"0000818447"
"0000389409"	"0000818448"
"0000389409"	"0000818449"
"0000389410"	"0000818450"
"0000389410"	"0000818451"
"0000389411"	"0000818452"
"0000389411"	"0000818453"
"0000389412"	"0000818454"
"0000389412"	"0000818455"
"0000389724"	"0000818952"
"0000389724"	"0000818953"
"0000390265"	"0000819610"
"0000390265"	"0000820678"
"0000390305"	"0000819650"
"0000390305"	"0000820689"
"0000390331"	"0000819676"
"0000390331"	"0000820696"
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