### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = POMGNT1)
# 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}}"
"POMGNT1"	"protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	"1"	"p34.1"	"no"	"LRG_701"	"UD_132118458663"	""	"https://www.LOVD.nl/POMGNT1"	""	"1"	"19139"	"55624"	"606822"	"1"	"1"	"1"	"1"	"This database is one of the gene variant databases from the:<a href=\"http://www.DMD.nl\" target=\"_blank\"><img src=\"docs/LOVD_LMDp-logo.png\"></a>.\r\nWhen refering to this database please cite <a href=\'http://www.ncbi.nlm.nih.gov/pubmed/18330676\'>Oliveira et al. (2008). Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. J.Hum.Genet. 53: 565-567</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/POMGNT1_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the gene variant databases from the <a href=\"http://www.DMD.nl\" target=\"_blank\">Leiden Muscular Dystrophy pages</a></font>"	"-1"	""	"-1"	"00002"	"2006-08-01 00:00:00"	"00006"	"2021-11-10 17:49:25"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00025256"	"POMGNT1"	"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), transcript variant 2"	"001"	"NM_001243766.1"	""	"NP_001230695.1"	""	""	""	"-651"	"2285"	"2247"	"46685977"	"46654353"	"00006"	"2018-02-02 12:28:14"	""	""
"00025467"	"POMGNT1"	"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), transcript variant 1"	"002"	"NM_017739.3"	""	"NP_060209.3"	""	""	""	"-164"	"2572"	"1983"	"46664121"	"46654353"	"00006"	"2019-10-07 22:30:21"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 21
"{{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"	""	""
"00073"	"MDDGA3;MEB;WWS"	"dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A3 (Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB))"	"AR"	"253280"	""	""	""	"00015"	"2012-11-09 14:33:21"	"00006"	"2024-01-12 21:38:17"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00307"	"HYDRO"	"hydrocephaly (HYDRO)"	""	""	""	""	""	"00006"	"2014-01-19 12:32:13"	"00006"	"2015-12-07 07:11:25"
"00360"	"MDC"	"dystrophy, muscular, congenital (MDC)"	""	""	""	""	""	"00006"	"2014-03-21 23:02:36"	"00006"	"2018-07-03 16:30:02"
"00361"	"WWS"	"Walker-Warburg syndrome (WWS)"	"SMo"	""	""	""	""	"00006"	"2014-03-22 16:35:00"	"00006"	"2021-12-10 21:51:32"
"01087"	"MDDGB3"	"dystrophy-dystroglycanopathy, muscular, (congenital with mental retardation), type B3"	"AR"	"613151"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2024-01-12 21:39:15"
"01088"	"MDDGC3;LGMDR15;LGMD2O"	"dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C3 (LGMDR15, LGMD2O)"	"AR"	"613157"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2024-01-12 21:40:00"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04304"	"MRMV"	"mirror movements (MRMV)"	""	""	""	""	""	"00006"	"2015-07-19 11:49:15"	""	""
"04327"	"CRS"	"craniosynostosis (CRS)"	""	""	""	""	""	"00006"	"2015-09-12 20:59:03"	""	""
"05114"	"MEB"	"muscle-eye-brain disease (MEB)"	""	""	""	""	""	"00006"	"2016-01-11 01:44:42"	""	""
"05115"	"MDDGA"	"dystrophy, muscular, dystroglycanopathy, type A (MDDGA)"	""	""	""	""	""	"00006"	"2016-01-11 01:54:55"	""	""
"05117"	"MDDG"	"dystrophy, muscular, dystroglycanopathy (MDDG)"	""	""	""	""	""	"00006"	"2016-01-11 01:55:59"	""	""
"05121"	"MD"	"dystrophy, muscular (MD)"	""	""	""	""	""	"00006"	"2016-01-24 01:27:29"	""	""
"05126"	"LGMD"	"dystrophy, muscular, limb-girdle (LGMD)"	""	""	""	""	""	"00006"	"2016-01-26 06:05:36"	""	""
"05362"	"LIS"	"lissencephaly"	""	""	""	""	""	"00006"	"2017-12-29 12:16:43"	"00006"	"2023-11-27 09:41:55"
"05618"	"NMD"	"neuromuscular disorder (NMD)"	""	""	""	""	""	"00006"	"2019-07-02 19:46:12"	""	""
"05721"	"RP76"	"retinitis pigmentosa, type 76 (RP76)"	"AR"	"617123"	""	""	""	"00006"	"2020-04-10 19:39:34"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{geneid}}"	"{{diseaseid}}"
"POMGNT1"	"00073"
"POMGNT1"	"00139"
"POMGNT1"	"01087"
"POMGNT1"	"01088"
"POMGNT1"	"05721"


## Individuals ## Do not remove or alter this header ##
## Count = 298
"{{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}}"
"00000061"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000076"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00095185"	""	""	""	"1"	""	"01866"	"{PMID:Xu 2017:28765568}"	""	""	""	"China"	""	"0"	""	""	""	"28765568-Pat1"
"00095186"	""	""	""	"1"	""	"01866"	"{PMID:Xu 2017:28765568}"	""	""	""	"China"	""	"0"	""	""	""	"28765568-Pat2"
"00095188"	""	""	""	"1"	""	"01866"	"{PMID:Xu 2017:28765568}"	""	""	""	"China"	""	"0"	""	""	""	"28765568-Pat3"
"00151468"	""	""	""	"1"	""	"00400"	"{PMID:Oliveira 2008:18330676}"	""	"F"	""	"Portugal"	""	"0"	""	""	""	"?"
"00152130"	""	""	""	"1"	""	"00006"	"{PMID:Taniguchi 2003:12588800}"	""	"F"	""	"Korea, South (Republic)"	""	"0"	""	""	""	""
"00152131"	""	""	""	"1"	""	"00006"	"{PMID:Diesen 2004:15466003}"	""	""	""	"United States"	""	"0"	""	""	""	"15466003-Pat25"
"00152132"	""	""	""	"1"	""	"00006"	"{PMID:Diesen 2004:15466003}"	""	""	""	"United States"	""	"0"	""	""	""	"15466003-Pat23"
"00152133"	""	""	""	"1"	""	"00006"	"{PMID:Diesen 2004:15466003}"	""	""	""	"Estonia"	""	"0"	""	""	""	"15466003-Pat22"
"00152134"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2003:12849864}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	""	">07y"	"0"	""	""	""	"12849864-PatB"
"00152135"	""	""	""	"1"	""	"00006"	"{PMID:Matsumoto 2005:15833426}"	""	"M"	""	"Japan"	">00y06m"	"0"	""	""	""	"15833426-Pat2"
"00152137"	""	""	""	"2"	""	"00006"	"{PMID:Diesen 2004:15466003}"	"2-generation family, 2 affected siblings, unaffected heterozygous carrier parents"	""	""	"Israel"	""	"0"	""	""	"Arab"	"15466003-Pat29/30"
"00152138"	""	""	""	"1"	""	"00006"	"{PMID:Yoshida 2001:11709191}, {PMID:Manya 2008:17869517}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	"11709191-PatSA"
"00152139"	""	""	""	"1"	""	"00006"	"{PMID:Diesen 2004:15466003}"	""	""	""	"United States"	""	"0"	""	""	""	"15466003-Pat26"
"00152140"	""	""	""	"1"	""	"00006"	"{PMID:Diesen 2004:15466003}"	""	""	""	"Norway"	""	"0"	""	""	""	"15466003-Pat21"
"00152141"	""	""	""	"1"	""	"00006"	"{PMID:Diesen 2004:15466003}"	""	""	""	"Sweden"	""	"0"	""	""	""	"15466003-Pat19"
"00152142"	""	""	""	"18"	""	"00006"	"{PMID:Diesen 2004:15466003}"	"18 affecteds 13 families (1 consanguineous, second-cousin parents); shared founder haplotype"	"F;M"	""	"Finland"	""	"0"	""	""	""	"15466003-Fams"
"00152143"	""	""	""	"2"	""	"00006"	"{PMID:Vajsar 2006:16427280}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"16427280-PatK"
"00152144"	""	""	"00152143"	"1"	""	"00006"	"{PMID:Vajsar 2006:16427280}"	"PatR"	"M"	""	""	""	"0"	""	""	""	"16427280-PatR"
"00152145"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2003:12849864}"	""	""	""	""	">1y"	"0"	""	""	""	""
"00152146"	""	""	""	"1"	""	"00006"	"{PMID:Yoshida 2001:11709191}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"11709191-PatYA"
"00152147"	""	""	""	"1"	""	"00006"	"{PMID:Yoshida 2001:11709191}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"11709191-PatKO"
"00152148"	""	""	""	"2"	""	"00006"	"{PMID:Haliloglu 2004:15938569}, {PMID:Hehr 2007:17906881}"	"2-generation family, unaffected heterozygous carrier parents"	"F"	"yes"	"Turkey"	">15y"	"0"	""	""	""	"17906881-Pat5"
"00152149"	""	""	""	"4"	""	"00006"	"{PMID:Yoshida 2001:11709191}, {PMID:Taniguchi 2003:12588800}, {PMID:Zhang 2003:12849864}, {PMID:Manya 2003:12788071}"	"2-generation family, 4 affecteds (3M, 1F), unaffected heterozygous carrier parents"	"M"	"?"	"Turkey"	""	"0"	""	""	""	"11709191-PatMK"
"00152150"	""	""	""	"1"	""	"00006"	"{PMID:Yoshida 2001:11709191}, {PMID:Manya 2003:12788071}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"11709191-PatCC"
"00152151"	""	""	""	"1"	""	"00006"	"{PMID:Taniguchi 2003:12588800}"	""	"F"	""	"Italy"	""	"0"	""	""	""	""
"00152152"	""	""	""	"1"	""	"00006"	"{PMID:Yoshida 2001:11709191}, {PMID:Zhang 2003:12849864}, {PMID:Manya 2003:12788071}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"France"	""	"0"	""	""	""	"11709191-PatTLG"
"00152153"	""	""	""	"2"	""	"00006"	"{PMID:Vervoort 2004:15236414}, {PMID:Vajsar 2006:16427280}"	"2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents"	"F"	"no"	"United States"	""	"0"	""	""	"white"	"15236414-FamK6914PatII1"
"00152154"	""	""	""	"1"	""	"00006"	"{PMID:Taniguchi 2003:12588800}, {PMID:Manya 2003:12788071}"	""	"F"	""	"Japan"	""	"0"	""	""	"American"	""
"00152155"	""	""	""	"1"	""	"00006"	"{PMID:Diesen 2004:15466003}, {PMID:Pascual-Castroviejo:15954036}"	"probably same patient in both papers"	"M"	""	"Spain"	""	"0"	""	""	""	"Pat31;patient"
"00152156"	""	""	""	"1"	""	"00006"	"{PMID:Taniguchi 2003:12588800}, {PMID:Manya 2003:12788071}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00152157"	""	""	""	"1"	""	"00006"	"{PMID:Taniguchi 2003:12588800}, {PMID:Manya 2003:12788071}, {PMID:Matsumoto 2005:15833426}"	""	"F"	""	"Japan"	">01y"	"0"	""	""	""	"15833426-Pat3"
"00152158"	""	""	""	"1"	""	"00006"	"{PMID:Taniguchi 2003:12588800}, {PMID:Manya 2003:12788071}"	""	"F"	""	"Belgium"	""	"0"	""	""	""	""
"00152159"	""	""	""	"2"	""	"00006"	"{PMID:Diesen 2004:15466003}"	"2-generation family, 2 affecteds, unaffected heterozygous carrier parents"	""	""	"United States"	""	"0"	""	""	""	"15466003-Pat27/28"
"00152160"	""	""	""	"1"	""	"00006"	"{PMID:Diesen 2004:15466003}"	""	""	""	"Sweden"	""	"0"	""	""	""	"15466003-Pat20"
"00152161"	""	""	""	"1"	""	"00006"	"{PMID:Diesen 2004:15466003}"	""	""	""	"Finland"	""	"0"	""	""	""	"15466003-Pat18"
"00152162"	""	""	""	"1"	""	"00006"	"{PMID:Diesen 2004:15466003}"	""	"M"	""	"United States"	""	"0"	""	""	""	"15466003-Pat24"
"00152163"	""	""	""	"1"	""	"00006"	"{PMID:Longman 2004:15313851}"	""	"M"	""	"United Kingdom (Great Britain)"	">2y"	"0"	""	""	"Anglo-Irish"	""
"00152164"	""	""	""	"2"	""	"00006"	"{PMID:Zhang 2003:12849864}, {PMID:Vajsar 2006:16427280}"	"2-generation family, 2 affected sibs, unaffected heterozygous carrier parents"	"F"	""	""	">02y"	"0"	""	""	""	"16427280-PatI"
"00152165"	""	""	""	"1"	""	"00006"	"{PMID:Diesen 2004:15466003}"	""	""	""	"Italy"	""	"0"	""	""	""	"15466003-Pat32"
"00152166"	""	""	""	"3"	""	"00006"	"{PMID:Diesen 2004:15466003}"	""	""	""	"Finland"	""	"0"	""	""	""	"15466003-con"
"00152167"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}, {PMID:O\'Grady 2016:27159402}"	""	""	""	""	""	"0"	""	""	""	"Pat22/Pat38"
"00152168"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	""
"00152169"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}, {PMID:Clement:19067344}"	""	""	""	""	""	"0"	""	""	""	"17878207-Pat19"
"00152170"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	"17878207-Pat21"
"00152171"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}, {PMID:Clement:19067344}"	""	""	""	""	""	"0"	""	""	""	"17878207-Pat24"
"00152172"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}, {PMID:Clement 2008:19067344}"	""	"F"	"no"	"Ireland"	">21y"	"0"	""	""	""	"17878207-Pat20"
"00152173"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	"17878207-Pat23"
"00152174"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	""
"00152175"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	"17878207-Pat37"
"00152176"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	"17878207-Pat38"
"00152177"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	"17878207-Pat39"
"00152178"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	""
"00152179"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	""
"00152180"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	""
"00152181"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	""
"00152182"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	"17878207-Pat18"
"00152183"	""	""	""	"1"	""	"00006"	"{PMID:Godfrey 2007:17878207}"	""	""	""	""	""	"0"	""	""	""	""
"00152184"	""	""	""	"1"	""	"00006"	"{PMID:Manya 2008:17869517}"	""	""	""	""	""	"0"	""	""	""	""
"00152185"	""	""	""	"1"	""	"00006"	"{PMID:Manya 2008:17869517}"	""	""	""	""	""	"0"	""	""	""	""
"00152186"	""	""	""	"1"	""	"00006"	"{PMID:Bouchet 2007:17559086}"	"aborted fetus"	""	""	"(France)"	"<00y00m00d"	"0"	""	""	""	"17559086-Fam14"
"00152187"	""	""	""	"2"	""	"00006"	"{PMID:Bouchet 2007:17559086}"	"2 aborted fetuses"	""	""	"(France)"	"<00y00m00d"	"0"	""	""	""	"17559086-Fam15"
"00152188"	""	""	""	"1"	""	"00006"	"{PMID:Bouchet 2007:17559086}"	"aborted fetus"	""	""	"(France)"	"<00y00m00d"	"0"	""	""	""	"17559086-Fam16"
"00152189"	""	""	""	"1"	""	"00006"	"{PMID:Bouchet 2007:17559086}"	"aborted fetus"	""	""	"(France)"	"<00y00m00d"	"0"	""	""	""	"17559086-Fam17"
"00152190"	""	""	""	"1"	""	"00006"	"{PMID:Bouchet 2007:17559086}"	"aborted fetus"	""	""	"(France)"	"<00y00m00d"	"0"	""	""	""	"17559086-Fam18"
"00152191"	""	""	""	"1"	""	"00006"	"{PMID:Bouchet 2007:17559086}"	"aborted fetus"	""	""	"(France)"	"<00y00m00d"	"0"	""	""	""	"17559086-Fam19"
"00152192"	""	""	"00152193"	"1"	""	"00400"	"{PMID:Teber 2008:17881266}"	"younger sib"	"M"	"yes"	"Taiwan"	"06y"	"0"	""	""	""	"17881266-Pat2"
"00152193"	""	""	""	"2"	""	"00400"	"{PMID:Teber 2008:17881266}"	"2-generation family, 2 affected sibs, unaffected heterozygous carrier parents; intrafamilial clinical heterogeneity"	"F"	"yes"	"Turkey"	">14y"	"0"	""	""	""	"17881266-Pat1"
"00152195"	""	""	""	"2"	""	"00400"	"{PMID:Hehr 2007:17906881}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	""	"Germany"	""	"0"	""	""	""	"17906881-Pat2a"
"00152196"	""	""	"00152195"	"1"	""	"00400"	"{PMID:Hehr 2007:17906881}"	"Pat2b"	"M"	""	"Germany"	""	"0"	""	""	""	"17906881-Pat2b"
"00152197"	""	""	""	"1"	""	"00400"	"{PMID:Hehr 2007:17906881}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Germany"	">16y"	"0"	""	""	""	"17906881-Pat3"
"00152198"	""	""	""	"1"	""	"00400"	"{PMID:Hehr 2007:17906881}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Germany"	">04y"	"0"	""	""	""	"17906881-Pat4"
"00152199"	""	""	""	"1"	""	"00400"	"{PMID:Hehr 2007:17906881}"	""	"M"	"yes"	"Turkey"	">6y"	"0"	""	""	""	""
"00152200"	""	""	""	"1"	""	"00400"	"{PMID:Haliloglu 2004:15938569}, {PMID:Hehr 2007:17906881}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents (first-degree parents)"	"M"	"yes"	"Turkey"	">02y"	"0"	""	""	""	"17906881-Pat7"
"00152201"	""	""	""	"1"	""	"00400"	"{PMID:Hehr 2007:17906881}"	""	"F"	""	""	">05y"	"0"	""	""	""	"17906881-Pat8"
"00152202"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"(United States)"	""	"0"	""	""	""	""
"00152203"	""	""	""	"1"	""	"00464"	"{PMID:Willer 2012:22522420}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152204"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00152205"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"Canada"	""	"0"	""	""	"Arab"	""
"00152206"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00152207"	""	""	""	"1"	""	"00006"	"{PMID:Clement 2008:19067344}-Pat20"	""	""	""	""	""	"0"	""	""	""	""
"00152208"	""	""	""	"1"	""	"00006"	"{PMID:Clement 2008:19067344}-Pat23"	""	""	""	""	""	"0"	""	""	""	""
"00152209"	""	""	""	"2"	""	"00006"	"{PMID:Vuillaumier-Barrot 2011:21727005}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Tunisia"	">08y"	"0"	""	""	""	"21727005-Pat1"
"00152210"	""	""	""	"1"	""	"00006"	"{PMID:Vuillaumier-Barrot 2011:21727005}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Algeria;France"	">08y"	"0"	""	""	""	"21727005-Pat2"
"00152211"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00152212"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	"white"	""
"00152213"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152214"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152215"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152216"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152217"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152218"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152219"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152220"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152221"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152222"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152223"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152224"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152225"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152226"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152227"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152228"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152229"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152230"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152231"	""	""	""	"1"	""	"00430"	"from website {DBsub-Emory}"	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00152232"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00152233"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00152539"	""	""	""	"1"	""	"00006"	"{PMID:Saredi 2012:22554691}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"22554691-Pat1"
"00152542"	""	""	""	"1"	""	"00006"	"{PMID:Saredi 2012:22554691}"	""	"M"	""	"Italy"	"17y"	"0"	""	""	""	"22554691-Pat2"
"00152543"	""	""	""	"1"	""	"00006"	"{PMID:Saredi 2012:22554691}"	""	"F"	""	"Italy"	""	"0"	""	""	""	"22554691-Pat3"
"00152544"	""	""	""	"2"	""	"00006"	"{PMID:Saredi 2012:22554691}"	"2-generation family, 2 affected fetuses (F, M)"	"F;M"	"yes"	"Italy"	"<00y00m01d"	"0"	""	""	""	"22554691-Pat4/5"
"00152545"	""	""	""	"1"	""	"00006"	"{PMID:Jiao 2011:21983716}, {PMID:Jiao 2013:23689641}"	""	"M"	""	"China"	""	"0"	""	""	""	"23689641-Pat1"
"00152546"	""	""	""	"1"	""	"00006"	"{PMID:Jiao 2013:23689641}"	""	"F"	""	"China"	""	"0"	""	""	""	"23689641-Pat2"
"00152547"	""	""	""	"1"	""	"00006"	"{PMID:Jiao 2013:23689641}"	""	"M"	""	"China"	""	"0"	""	""	""	"23689641-Pat3"
"00152548"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2009:19679478}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"?"	"Turkey"	""	"0"	""	""	""	"19679478-Pat"
"00152549"	""	""	""	"1"	""	"00006"	"{PMID:Yis 2014:24731844}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"?"	"Turkey"	""	"0"	""	""	""	"24731844-Pat10"
"00152550"	""	""	""	"1"	""	"00006"	"{PMID:Yis 2014:24731844}"	""	"F"	"?"	"Turkey"	""	"0"	""	""	""	"24731844-Pat9"
"00152551"	""	""	""	"1"	""	"00006"	"{PMID:Hehr 2007:17906881}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"17906881-Pat6"
"00152552"	""	""	""	"1"	""	"00006"	"{PMID:Hehr 2007:17906881}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"United States"	""	"0"	""	""	"California, south"	"17906881-Pat1"
"00152553"	""	""	""	"2"	""	"00006"	"{PMID:Yis 2014:24731844}"	"2-generation family, 2 affecteds (2M), unaffected heterozygous carrier parents"	"M"	""	"Turkey"	""	"0"	""	""	""	"24731844-Pat1a"
"00152554"	""	""	"00152553"	"1"	""	"00006"	"{PMID:Yis 2014:24731844}"	"Pat1b"	"M"	""	"Turkey"	""	"0"	""	""	""	"24731844-Pat1b"
"00152555"	""	""	""	"1"	""	"00006"	"{PMID:Yis 2014:24731844}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Turkey"	""	"0"	""	""	""	"24731844-Pat2"
"00152556"	""	""	""	"1"	""	"00006"	"{PMID:Yis 2014:24731844}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Turkey"	""	"0"	""	""	""	"24731844-Pat3"
"00152557"	""	""	""	"1"	""	"00006"	"{PMID:Yis 2014:24731844}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Turkey"	""	"0"	""	""	""	"24731844-Pat4"
"00152558"	""	""	""	"1"	""	"00006"	"{PMID:Yis 2014:24731844}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Turkey"	""	"0"	""	""	""	"24731844-Pat5"
"00152559"	""	""	""	"2"	""	"00006"	"{PMID:Yis 2014:24731844}"	"2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents"	"M"	""	"Turkey"	""	"0"	""	""	""	"24731844-Pat6a"
"00152560"	""	""	"00152559"	"1"	""	"00006"	"{PMID:Yis 2014:24731844}"	"Pat6b"	"F"	""	"Turkey"	""	"0"	""	""	""	"24731844-Pat6b"
"00152561"	""	""	""	"1"	""	"00006"	"{PMID:Yis 2014:24731844}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Turkey"	""	"0"	""	""	""	"24731844-Pat7"
"00152562"	""	""	""	"1"	""	"00006"	"{PMID:Yis 2014:24731844}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Turkey"	""	"0"	""	""	""	"24731844-Pat8"
"00152563"	""	""	""	"1"	""	"00006"	"{PMID:Shenoy 2010:20215985}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"20215985-Pat1"
"00152564"	""	""	"00152153"	"1"	""	"00006"	"{PMID:Vervoort 2004:15236414}, {PMID:Vajsar 2006:16427280}"	"PatII3"	"M"	"no"	"United States"	""	"0"	""	""	"white"	"15236414-FamK6914PatII3"
"00152565"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2003:12849864}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	""	""	"Turkey"	""	"0"	""	""	""	"12849864-PatD"
"00152566"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2003:12849864}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	""	""	"France"	""	"0"	""	""	""	"12849864-PatA"
"00152567"	""	""	""	"1"	""	"00006"	"{PMID:Vajsar 2006:16427280}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	""	""	""	""	"0"	""	""	""	"16427280-PatL"
"00152568"	""	""	""	"1"	""	"00006"	"{PMID:Biancheri 2006:17030669}, {PMID:Mercuri 2009:19299310}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Italy"	""	"0"	""	""	""	"Pat1;Pat29"
"00152569"	""	""	""	"2"	""	"00006"	"{PMID:Biancheri 2006:17030669}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents"	"M"	""	"Italy"	""	"0"	""	""	""	"17030669-Pat2"
"00152570"	""	""	"00152569"	"1"	""	"00006"	"{PMID:Biancheri 2006:17030669}, {PMID:Mercuri 2009:19299310}"	"sister of Pat2"	"F"	""	"Italy"	""	"0"	""	""	""	"17030669-Pat3, 19299310-Pat30"
"00152571"	""	""	""	"1"	""	"00006"	"{PMID:Lim 2013:23453855}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"Korea"	""	"0"	""	""	""	"23453855-Pat1"
"00152572"	""	""	""	"1"	""	"00006"	"{PMID:Lim 2013:23453855}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"Korea"	""	"0"	""	""	""	"23453855-Pat2"
"00152574"	""	""	""	"1"	""	"00006"	"{PMID:Raducu 2014:24282183}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Spain"	""	"0"	""	""	""	"24282183-Pat1"
"00152675"	""	""	""	"1"	""	"00006"	"{PMID:Mercuri 2009:19299310}"	""	""	""	"Italy"	""	"0"	""	""	""	"19299310-Pat27"
"00152676"	""	""	""	"1"	""	"00006"	"{PMID:Mercuri 2009:19299310}"	""	""	""	"Italy"	""	"0"	""	""	""	"19299310-Pat28"
"00152677"	""	""	""	"1"	""	"00006"	"{PMID:Biancheri 2006:17030669}, {PMID:Mercuri 2009:19299310}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"Pat3;Pat31"
"00152678"	""	""	""	"1"	""	"00006"	"{PMID:Mercuri 2009:19299310}"	""	""	""	"Italy"	""	"0"	""	""	""	"19299310-Pat32"
"00152679"	""	""	""	"1"	""	"00006"	"{PMID:Mercuri 2009:19299310}"	""	""	""	"Italy"	""	"0"	""	""	""	"19299310-Pat33"
"00152680"	""	""	""	"1"	""	"00006"	"{PMID:Mercuri 2009:19299310}"	""	""	""	"Italy"	""	"0"	""	""	""	"19299310-Pat34"
"00218045"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00219592"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00219659"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00219681"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00219745"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00219753"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00219939"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220020"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220084"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220114"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220385"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220509"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220536"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220540"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220568"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220584"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220628"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220639"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220673"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220689"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220839"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00220872"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221083"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221104"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221133"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221266"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221296"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221307"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221380"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221427"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221435"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221445"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221536"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221558"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221570"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221613"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221683"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221740"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221837"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221840"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221871"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221885"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221886"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221956"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00221957"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222050"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222066"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222082"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222326"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222465"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222533"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222572"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222580"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222646"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222655"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	"M"	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222666"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222692"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00222742"	""	""	""	"1"	""	"00430"	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"(United States)"	""	"0"	""	""	""	"30564623-Pat"
"00231888"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231889"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231890"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231891"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231892"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231893"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231894"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231895"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00265820"	""	""	""	"1"	""	"00006"	"{PMID:Cummings 2017:28424332}"	""	"M"	""	""	""	"0"	""	""	""	"PatC1"
"00289869"	""	""	""	"7"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289870"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289871"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00296658"	""	""	""	"2"	""	"00006"	"{PMID:Xu 2016:26908613}, {PMID:Xu 2016:10.1093/hmg/ddw022}"	"2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier relative"	"M"	""	"(Canada)"	""	"0"	""	""	"Italy"	"Fam1PatMOGL2063"
"00296659"	""	""	"00296658"	"1"	""	"00006"	"{PMID:Xu 2016:26908613}, {PMID:Xu 2016:10.1093/hmg/ddw022}"	"older sister"	"F"	""	"(Canada)"	""	"0"	""	""	"Italy"	"Fam1PatMOGL2064"
"00296679"	""	""	""	"1"	""	"00006"	"{PMID:Xu 2016:26908613}, {PMID:Xu 2016:10.1093/hmg/ddw022}"	"2-generation family, 1 affected, unaffected parents"	"F"	"yes"	"China"	""	"0"	""	""	"Han Chinese"	"Fam2PatSRF1105"
"00296680"	""	""	""	"1"	""	"00006"	"{PMID:Xu 2016:26908613}, {PMID:Xu 2016:10.1093/hmg/ddw022}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"China"	""	"0"	""	""	"Han Chinese"	"Fam3PatSRF1630"
"00303625"	""	""	""	"3"	""	"00006"	"{PMID:Makrythanasis 2014:25044680}"	"family, 3 affected"	""	"yes"	"Jordan"	""	"0"	""	""	""	"Family_32"
"00334026"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"545"
"00359668"	""	""	""	"1"	""	"00006"	"{PMID:Mohammadi 2021: 33175337}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Iran"	""	"0"	""	""	""	"patient"
"00374448"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4266"
"00385406"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31872526}"	""	"F"	""	"Taiwan"	""	"0"	""	""	""	"F17-II-4"
"00385407"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31872526}"	""	"F"	""	"Taiwan"	""	"0"	""	""	""	"F18-II-2"
"00387864"	""	""	""	"2"	""	"00006"	"{PMID:Hu 2019:29302074}"	"family, 2 affected individuals, first cousin parents"	""	"yes"	"Iran"	""	"0"	""	""	"Persia"	"M8900240"
"00388291"	""	""	""	"1"	""	"04186"	""	""	"M"	"no"	"(Korea, South (Republic))"	""	"0"	""	""	"Korea"	"Case 24"
"00388515"	""	""	""	"1"	""	"04186"	""	""	"M"	"no"	"(Korea, South (Republic))"	""	"0"	""	""	"Korea"	"Case 25"
"00390059"	""	""	""	"1"	""	"00006"	"{PMID:Kritioti 2021:34324503}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Cyprus"	""	"0"	""	""	"Greece"	"Pat6"
"00390060"	""	""	""	"1"	""	"00006"	"{PMID:Kritioti 2021:34324503}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Cyprus"	""	"0"	""	""	"Greece"	"Pat7"
"00390079"	""	""	""	"1"	""	"00006"	"{PMID:Nissenkorn 2021:33413009}"	""	"F"	""	"Israel"	""	"0"	""	""	""	"Fam5Pat9"
"00390546"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat63"
"00390547"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat64"
"00390548"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat65"
"00390549"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat66"
"00390550"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat67"
"00390551"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat68"
"00390552"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat69"
"00390553"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat70"
"00390554"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat71"
"00390555"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat72"
"00390556"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat73"
"00390557"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat74"
"00390558"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat75"
"00390559"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat76"
"00392540"	""	""	""	"2"	""	"04186"	""	"family, 2 affected"	"F"	"no"	"(Korea, South (Republic))"	""	"0"	""	""	"Korea"	"Case 23a"
"00392542"	""	""	"00392540"	"1"	""	"04186"	""	""	"F"	"no"	"(Korea, South (Republic))"	""	"0"	""	""	"Korea"	"Case 23b"
"00394622"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00410256"	""	""	""	"1"	""	"00000"	"{PMID:Hanemaaijer 2009:19452620}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00410258"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	""	""	""	""	"0"	""	""	""	"?"
"00410259"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00410260"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00410261"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00410262"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00410263"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00410264"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00410265"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00410266"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00410267"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00410268"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00410269"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00410270"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	""	""	""	""	"0"	""	""	""	"?"
"00410271"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	""	""	""	""	"0"	""	""	""	"?"
"00410272"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00410273"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	""	""	""	""	"0"	""	""	""	"?"
"00410274"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00410275"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00410276"	""	""	""	"1"	""	"00000"	"{PMID:Voglmeir 2011:21361872}"	""	"F"	""	""	""	"0"	""	""	""	"?"
"00410277"	""	""	""	"1"	""	"00000"	"{PMID:Hoang 2011:21403000}"	""	"F"	""	"United States"	""	"0"	""	""	""	"?"
"00410278"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 01; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F01-01"
"00410279"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 01; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F01-03"
"00410280"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 01; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"M"	"likely"	"Taiwan"	""	"0"	""	""	""	"F01-04"
"00410281"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 01; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F01-05"
"00410282"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F02-01"
"00410283"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F02-04"
"00410284"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F02-08"
"00410285"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F02-12"
"00410286"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"M"	"likely"	"Taiwan"	""	"0"	""	""	""	"F02-13"
"00410287"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F02-15"
"00410288"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 03; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"M"	"likely"	"Taiwan"	""	"0"	""	""	""	"F03-02"
"00410289"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 03; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F03-03"
"00410290"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 03; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F03-05"
"00410291"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 04; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F04-01"
"00410292"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 04; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F04-03"
"00410293"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 05; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"M"	"likely"	"Taiwan"	""	"0"	""	""	""	"F05-01"
"00410294"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:27391550}"	"family 05; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago"	"F"	"likely"	"Taiwan"	""	"0"	""	""	""	"F05-05"
"00410295"	""	""	""	"1"	""	"00000"	"{PMID:Arvio 2019:31580529}"	""	"F"	""	"Finland"	""	"0"	""	""	""	"1"
"00410296"	""	""	""	"1"	""	"00000"	"{PMID:Arvio 2019:31580529}"	""	"F"	""	"Finland"	""	"0"	""	""	""	"2"
"00410297"	""	""	""	"1"	""	"00000"	"{PMID:Borisovna 2019:30961548}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00410298"	""	""	""	"1"	""	"00000"	"{PMID:Peiris 2018:29555514}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00426907"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 10, individual 11"	"F"	""	""	""	"0"	""	""	""	"10_11"
"00430019"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00430406"	""	""	""	"1"	""	"00006"	"{PMID:Cavdarli 2023:36575883}"	"analysis 146 neuromuscular disease patients"	"M"	""	"Turkey"	""	"0"	""	""	""	"D17"
"00433322"	""	""	""	"1"	""	"00006"	"{PMID:Jacquemin 2023:36859317}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Belgium"	""	"0"	""	""	""	"Pat26"
"00438484"	""	""	""	"1"	""	"00006"	"{PMID:Cavdarli 2023:36575883}"	"analysis 67 patients muscular dystrophy/myopathy (not DMD)"	"M"	""	"Turkey"	""	"0"	""	""	""	"D17"
"00447722"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"UD-97"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 298
"{{individualid}}"	"{{diseaseid}}"
"00095185"	"05114"
"00095186"	"05114"
"00095188"	"05114"
"00151468"	"00360"
"00152130"	"00360"
"00152131"	"05114"
"00152132"	"05114"
"00152133"	"05114"
"00152134"	"05114"
"00152135"	"05114"
"00152137"	"05114"
"00152138"	"05114"
"00152139"	"05114"
"00152140"	"05114"
"00152141"	"05114"
"00152142"	"05114"
"00152143"	"05114"
"00152144"	"05114"
"00152145"	"05114"
"00152146"	"05114"
"00152147"	"05114"
"00152148"	"05114"
"00152149"	"05114"
"00152150"	"05114"
"00152151"	"00361"
"00152152"	"05114"
"00152153"	"05114"
"00152154"	"00361"
"00152155"	"05114"
"00152156"	"00360"
"00152157"	"05114"
"00152158"	"00360"
"00152159"	"05114"
"00152160"	"05114"
"00152161"	"05114"
"00152162"	"05114"
"00152163"	"05114"
"00152164"	"05114"
"00152165"	"05114"
"00152166"	"00000"
"00152167"	"00360"
"00152168"	"05121"
"00152169"	"00360"
"00152170"	"00360"
"00152171"	"00361"
"00152172"	"05126"
"00152173"	"00360"
"00152174"	"05121"
"00152175"	"05121"
"00152176"	"05121"
"00152177"	"05121"
"00152178"	"05121"
"00152179"	"05121"
"00152180"	"05121"
"00152181"	"05121"
"00152182"	"00360"
"00152183"	"05121"
"00152184"	"00360"
"00152185"	"00360"
"00152186"	"05362"
"00152187"	"05362"
"00152188"	"05362"
"00152189"	"05362"
"00152190"	"05362"
"00152191"	"05362"
"00152192"	"05114"
"00152193"	"05114"
"00152195"	"05114"
"00152196"	"05114"
"00152197"	"05114"
"00152198"	"05114"
"00152199"	"05114"
"00152200"	"05114"
"00152201"	"05114"
"00152202"	"05114"
"00152203"	"05114"
"00152204"	"05114"
"00152205"	"00360"
"00152206"	"05114"
"00152207"	"00360"
"00152208"	"00360"
"00152209"	"05114"
"00152210"	"05114"
"00152211"	"05114"
"00152212"	"00360"
"00152213"	"00198"
"00152214"	"00198"
"00152215"	"00198"
"00152216"	"00198"
"00152217"	"00198"
"00152218"	"00198"
"00152219"	"00198"
"00152220"	"00198"
"00152221"	"00198"
"00152222"	"00198"
"00152223"	"00198"
"00152224"	"00198"
"00152225"	"00198"
"00152226"	"00198"
"00152227"	"00198"
"00152228"	"00198"
"00152229"	"00198"
"00152230"	"00198"
"00152231"	"00198"
"00152232"	"05114"
"00152233"	"00360"
"00152539"	"05114"
"00152542"	"05114"
"00152543"	"05114"
"00152544"	"05114"
"00152545"	"05114"
"00152546"	"05114"
"00152547"	"05114"
"00152548"	"05114"
"00152549"	"05114"
"00152550"	"05114"
"00152551"	"05114"
"00152552"	"05114"
"00152553"	"05114"
"00152554"	"05114"
"00152555"	"05114"
"00152556"	"05114"
"00152557"	"05114"
"00152558"	"05114"
"00152559"	"05114"
"00152560"	"05114"
"00152561"	"05114"
"00152562"	"05114"
"00152563"	"05114"
"00152564"	"05114"
"00152565"	"05114"
"00152566"	"05114"
"00152567"	"05114"
"00152568"	"00360"
"00152569"	"00360"
"00152570"	"00360"
"00152571"	"00360"
"00152572"	"00360"
"00152574"	"05114"
"00152675"	"00360"
"00152676"	"00360"
"00152677"	"00360"
"00152678"	"00360"
"00152679"	"00360"
"00152680"	"00360"
"00218045"	"00198"
"00219592"	"05126"
"00219659"	"05126"
"00219681"	"05126"
"00219745"	"04327"
"00219745"	"05126"
"00219753"	"04327"
"00219753"	"05126"
"00219939"	"05126"
"00220020"	"05126"
"00220084"	"05126"
"00220114"	"05126"
"00220385"	"05126"
"00220509"	"05126"
"00220536"	"05126"
"00220540"	"05126"
"00220568"	"05126"
"00220584"	"05126"
"00220628"	"05126"
"00220639"	"05126"
"00220673"	"05126"
"00220689"	"05126"
"00220839"	"05126"
"00220872"	"05126"
"00221083"	"05126"
"00221104"	"05126"
"00221133"	"05126"
"00221266"	"05126"
"00221296"	"05126"
"00221307"	"05126"
"00221380"	"05126"
"00221427"	"05126"
"00221435"	"05126"
"00221445"	"05126"
"00221536"	"05126"
"00221558"	"05126"
"00221570"	"05126"
"00221613"	"05126"
"00221683"	"05126"
"00221740"	"05126"
"00221837"	"05126"
"00221840"	"05126"
"00221871"	"05126"
"00221885"	"05126"
"00221886"	"05126"
"00221956"	"05126"
"00221957"	"05126"
"00222050"	"05126"
"00222066"	"05126"
"00222082"	"05126"
"00222326"	"05126"
"00222465"	"05126"
"00222533"	"05126"
"00222572"	"05126"
"00222580"	"05126"
"00222646"	"05126"
"00222655"	"05126"
"00222666"	"05126"
"00222692"	"05126"
"00222742"	"05126"
"00231888"	"04214"
"00231889"	"04214"
"00231890"	"04214"
"00231891"	"04214"
"00231892"	"04214"
"00231893"	"04214"
"00231894"	"04214"
"00231895"	"04214"
"00265820"	"00360"
"00289869"	"00198"
"00289870"	"00198"
"00289871"	"00198"
"00296658"	"04214"
"00296659"	"04214"
"00296679"	"04214"
"00296680"	"04214"
"00303625"	"00198"
"00334026"	"04214"
"00359668"	"05121"
"00374448"	"00198"
"00385406"	"04214"
"00385407"	"04214"
"00387864"	"00139"
"00388291"	"05115"
"00388515"	"05115"
"00390059"	"00198"
"00390060"	"00198"
"00390079"	"04304"
"00390546"	"05117"
"00390547"	"05117"
"00390548"	"05117"
"00390549"	"05117"
"00390550"	"05117"
"00390551"	"05117"
"00390552"	"05117"
"00390553"	"05117"
"00390554"	"05117"
"00390555"	"05117"
"00390556"	"05117"
"00390557"	"05117"
"00390558"	"05117"
"00390559"	"05117"
"00392540"	"05115"
"00392542"	"05115"
"00394622"	"04214"
"00410256"	"00198"
"00410258"	"00073"
"00410259"	"00073"
"00410260"	"00073"
"00410261"	"00073"
"00410262"	"00198"
"00410263"	"00073"
"00410264"	"00073"
"00410265"	"00073"
"00410266"	"00073"
"00410267"	"00073"
"00410268"	"00073"
"00410269"	"00073"
"00410270"	"00073"
"00410271"	"00073"
"00410272"	"00073"
"00410273"	"00073"
"00410274"	"00073"
"00410275"	"00073"
"00410276"	"00073"
"00410277"	"00073"
"00410278"	"04214"
"00410279"	"04214"
"00410280"	"04214"
"00410281"	"04214"
"00410282"	"04214"
"00410283"	"04214"
"00410284"	"04214"
"00410285"	"04214"
"00410286"	"04214"
"00410287"	"04214"
"00410288"	"04214"
"00410289"	"04214"
"00410290"	"04214"
"00410291"	"04214"
"00410292"	"04214"
"00410293"	"04214"
"00410294"	"04214"
"00410295"	"00073"
"00410296"	"00073"
"00410297"	"00073"
"00410298"	"00073"
"00426907"	"04214"
"00430019"	"00112"
"00430406"	"05618"
"00433322"	"00307"
"00438484"	"05121"
"00447722"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00073, 00112, 00139, 00198, 00307, 00360, 00361, 01087, 01088, 04214, 04304, 04327, 05114, 05115, 05117, 05121, 05126, 05362, 05618, 05721
## Count = 224
"{{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}}"
"0000073586"	"05114"	"00095186"	"01866"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000073588"	"05114"	"00095188"	"01866"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000123846"	"00360"	"00151468"	"00400"	"Isolated (sporadic)"	""	"brain changes; intellectual disability (HP:0001249)"	""	""	""	""	""	""	""	""	"MDDGA-4"	"muscular dystrophy, congenital, Fukuyama type (FCMD);MEB"	""
"0000124473"	"00360"	"00152130"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"muscular dystrophy, congenital, Fukuyama type (FCMD)"	""
"0000124474"	"05114"	"00152131"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124475"	"05114"	"00152132"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124476"	"05114"	"00152133"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124477"	"05114"	"00152134"	"00006"	"Familial, autosomal recessive"	"07y"	""	""	""	""	"severly reduced enzyme activity"	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124478"	"05114"	"00152135"	"00006"	"Familial, autosomal recessive"	"00y06m"	"see paper; ..., CPK 6900; intellectual disability (HP:0001249)"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124480"	"05114"	"00152137"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124481"	"05114"	"00152138"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	"POMGnT1 activity severly reduced"	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124482"	"05114"	"00152139"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124483"	"05114"	"00152140"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124484"	"05114"	"00152141"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124485"	"05114"	"00152142"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124486"	"05114"	"00152143"	"00006"	"Familial, autosomal recessive"	"11y"	"see paper; ..., CPK ?, severe intellectual disability (HP:0010864)"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124487"	"05114"	"00152144"	"00006"	"Familial, autosomal recessive"	"06y"	"see paper; ..., CPK 4485; severe intellectual disability (HP:0010864)"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124488"	"05114"	"00152145"	"00006"	"Unknown"	""	"severly reduced enzyme activity"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124489"	"05114"	"00152146"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124490"	"05114"	"00152147"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124491"	"05114"	"00152148"	"00006"	"Familial, autosomal recessive"	"15y"	"severe autistic features; CPK 1868"	"03y"	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124492"	"05114"	"00152149"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	"no enzymatic activity"	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124493"	"05114"	"00152150"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	"no enzyme activity"	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124494"	"00361"	"00152151"	"00006"	"Unknown"	""	"atypical phenotype; congenital muscular dystrophy, retinal dysplasia, cerebellar vermis hypoplasia, type II lissencephaly, hydrocephalus"	""	""	""	""	""	""	""	""	"MDDGA-3"	"Walker-Warburg syndrome"	""
"0000124495"	"05114"	"00152152"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	"severly reduced enzyme activity"	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124496"	"05114"	"00152153"	"00006"	"Familial, autosomal recessive"	"09y"	"20w ultra sound abnormal hydrocephalus; 42w-delivered by C-section, head 37 cm, hypotonia; 5dhead 38cm, bradycardia, ventriculoperitoneal shunt placed; 4w-corneal clouding, bilateral glaucoma, high myopia, staphylomas, optic nerve hypoplasia, retinal degeneration, cortical cataracts, nystagmus; 5m-epilepsy; complex partial with secondary generalized tonic-clonic and atypical absence seizures, status epilepticus 2x, ECG abnormal-slowing, left focal and spike waves; 6y-weaned from antiepileptic medication; severe to profound cognitive delays, mental retardation, averbal, no regression; severe/profound gross and fine motor delays with diffuse hypotonia, reflexes normal, HC at 10th percentile, height and weight 2nd percentile, low hairline, everted lower lip, short nasal bridge, mild micrognathia, midface hypoplasia; CK 2327 IU/l; CT/MRI brain abnormal with ventriculoperitoneal shunt"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124497"	"00361"	"00152154"	"00006"	"Isolated (sporadic)"	""	"phenotype hypotonia, high VEP, cataracts, cerebellar vermis hypoplasia, type II lissencephaly"	""	""	""	""	""	""	""	""	"MDDGA-3"	"Walker-Warburg syndrome"	""
"0000124498"	"05114"	"00152155"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124499"	"00360"	"00152156"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Walker-Warburg syndrome; muscle-eye-brain disease"	""
"0000124500"	"05114"	"00152157"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., CPK 8019; intellectual disability (HP:0001249)"	""	""	""	"no enzyme activity"	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124501"	"00360"	"00152158"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	"no enzyme activity"	""	""	""	""	""	"muscular dystrophy, congenital, Fukuyama type (FCMD);MEB"	""
"0000124502"	"05114"	"00152159"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124503"	"05114"	"00152160"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124504"	"05114"	"00152161"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124505"	"05114"	"00152162"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124506"	"05114"	"00152163"	"00006"	"Isolated (sporadic)"	""	"CPK 1567"	""	""	""	"WB no DAG1"	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124507"	"05114"	"00152164"	"00006"	"Familial, autosomal recessive"	"02y"	"see paper; ..."	""	""	""	"severly reduced enzyme activity"	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124508"	"05114"	"00152165"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124509"	"00000"	"00152166"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"healthy/control"	""
"0000124510"	"00360"	"00152167"	"00006"	"Unknown"	""	"Muscle-Eye-Brain/Fukuyama congenital muscular dystrophy like; no contractures, spine unaffected, ptosis, retinal atrophy, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, cerebellar cysts, dyspraxia, feeding difficulties, seizures; ?microcephaly; CPK 2800; intellectual disability (HP:0001249); able to run"	"1y"	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000124511"	"05121"	"00152168"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular"	""
"0000124512"	"00360"	"00152169"	"00006"	"Unknown"	""	"Muscle-Eye-Brain/Fukuyama Congenital Muscular Dystrophy like; contractures, hypertrophy, spine unaffected, optical atrophy, myopia, no microcepahly, cerebellar cysts, white matter abnormality, seizures, feeding difficulties; CPK 1000; intellectual disability (HP:0001249); able to walk"	"<0d"	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000124513"	"00360"	"00152170"	"00006"	"Unknown"	""	"Muscle-Eye-Brain/Fukuyama congenital muscular dystrophy like; no contractures, no hypertrophy, spine unaffected, retinal detachment, hydrocephaly, cerebellar cysts, white matter abnormality, seizures, feeding difficulties; microcephaly; CPK 1200; intellectual disability (HP:0001249); onset neonatal; no motor ability"	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000124514"	"00361"	"00152171"	"00006"	"Unknown"	""	"spine unaffected, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, cerebellar cysts, lissencephaly; no eye involvement, ?microcephaly; CPK 1300; intellectual disability (HP:0001249); onset neonatal; not able to sit"	""	""	""	""	""	""	""	""	"MDDGA-3"	"Walker-Warburg syndrome (WWS), muscular dystrophy, congenital"	""
"0000124515"	"05126"	"00152172"	"00006"	"Isolated (sporadic)"	""	"no contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, myopia, no microcephaly; CPK 5000-12000; no intellectual disability (-HP:0001249); able to run, normal milestones, 19y-lost ability to walk"	"12y"	"14y"	"Proximal limb muscle weakness"	"WB: DAG normal; IHC: mild DAG reduction in some fibers"	""	""	""	""	"LGMD2O"	"dystrophy, muscular, limb-girdle (LGMD)"	""
"0000124516"	"00360"	"00152173"	"00006"	"Unknown"	""	"MRI hydrocephalus, white matter abnormality, cerebellar cysts,; onset neonatal"	""	""	""	""	""	""	""	""	""	"MEB;muscular dystrophy, congenital, Fukuyama type (FCMD)"	""
"0000124517"	"05121"	"00152174"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular"	""
"0000124518"	"05121"	"00152175"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular"	""
"0000124519"	"05121"	"00152176"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular"	""
"0000124520"	"05121"	"00152177"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular"	""
"0000124521"	"05121"	"00152178"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular"	""
"0000124522"	"05121"	"00152179"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular"	""
"0000124523"	"05121"	"00152180"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular"	""
"0000124524"	"05121"	"00152181"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular"	""
"0000124525"	"00360"	"00152182"	"00006"	"Unknown"	""	"Muscle-Eye-Brain/Fukuyama congenital muscular dystrophy like; no contractures, no hypertrophy, congenital glaucoma, hydrocephaly, cerebellar cysts, white matter abnormality, brainstem involvement, ?microcephaly; CPK 780; intellectual disability (HP:0001249); onset infant; not able to walk"	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000124526"	"05121"	"00152183"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular"	""
"0000124527"	"00360"	"00152184"	"00006"	"Unknown"	""	""	""	""	""	"POMGnT1 activity severly reduced"	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000124528"	"00360"	"00152185"	"00006"	"Unknown"	""	""	""	""	""	"POMGnT1 activity severly reduced"	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000124529"	"05362"	"00152186"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"lissencephaly, type II"	""
"0000124530"	"05362"	"00152187"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"lissencephaly, type II"	""
"0000124531"	"05362"	"00152188"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"lissencephaly, type II"	""
"0000124532"	"05362"	"00152189"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"lissencephaly, type II"	""
"0000124533"	"05362"	"00152190"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"lissencephaly, type II"	""
"0000124534"	"05362"	"00152191"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"lissencephaly, type II"	""
"0000124535"	"05114"	"00152192"	"00400"	"Isolated (sporadic)"	""	"seizures, epilepsy, brain lissencephaly; CPK 572; intellectual disability (HP:0001249); onset neonatal; no motor ability"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124536"	"05114"	"00152193"	"00400"	"Isolated (sporadic)"	""	"brain MRI changes; CPK 1200; moderate intellectual disability (HP:0002342); onset neonatal; able to sit with support"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124538"	"05114"	"00152195"	"00400"	"Familial, autosomal recessive"	"01y03m"	"tonic clonic seizures; CPK 2600"	"<00y00m00d"	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124539"	"05114"	"00152196"	"00400"	"Familial, autosomal recessive"	"00y03m"	"tonic clonic seizures, hydrocephaly, brain MRI changes, gallbladder hydrops; CPK 1600; onset neonatal"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124540"	"05114"	"00152197"	"00400"	"Familial, autosomal recessive"	"16y"	"tonic clonic seizures, hydrocephaly, brain MRI changes, autistic behaviour; CPK 724"	"<00y00m00d"	""	"congenital hydrocephaly"	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124541"	"05114"	"00152198"	"00400"	"Familial, autosomal recessive"	"04y06m"	"spastic tetraparesis, no seizures, hydrocephaly, polymicrogyria; CPK increased; able to sit with support"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124542"	"05114"	"00152199"	"00400"	"Isolated (sporadic)"	""	"CPK 190; onset neonatal; no motor ability"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124543"	"05114"	"00152200"	"00400"	"Familial, autosomal recessive"	"02y"	"seizures, severe hydrocephaly, brain changes; CPK 1000; onset neonatal; able to sit with support"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124544"	"05114"	"00152201"	"00400"	"Familial, autosomal recessive"	"05y"	"seizures, hydrocephaly,cerebellar cysts; CPK 1950; mild intellectual disability (HP:0001256); onset neonatal"	""	""	""	"reduced DAG1"	""	""	""	""	"MDDGA-3"	"dystrophy, muscular, congenital"	""
"0000124545"	"05114"	"00152202"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124546"	"05114"	"00152203"	"00464"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124547"	"05114"	"00152204"	"00464"	"Unknown"	""	"congenital glaucoma, hydrocephalus; CPK elevated"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124548"	"00360"	"00152205"	"00464"	"Unknown"	""	"polymicrogyria, cerebellopontine hypoplasia"	""	""	""	"partial LAMA2 deficiency"	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000124549"	"05114"	"00152206"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124550"	"00360"	"00152207"	"00006"	"Unknown"	""	"no microcephaly, myopia, retinal dysplasia; CPK 740; intellectual disability (HP:0001249)"	""	"5m"	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000124551"	"00360"	"00152208"	"00006"	"Unknown"	""	"microcephaly, myopia; CPK 1500; intellectual disability (HP:0001249)"	""	"8m"	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000124552"	"05114"	"00152209"	"00006"	"Familial, autosomal recessive"	"08y"	"MRI brain dilated ventricles, pachygyria, cerebellar cysts, never walked, axial hypotonia requiring molded seat, epilepsy, severe eye dysfunction (right blindness, left severe myopia); CPK 900 UI/l; not able to walk"	"00y00m00d"	""	"macrocephalic, right microphthalmia, hypertrophy retina, left megalocornea, severe myopia"	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124553"	"05114"	"00152210"	"00006"	"Familial, autosomal recessive"	"08y"	"2m life-threatening cyanosis in context gastrooesophageal reflux, hypotonia, motor development delayed, scoliosis, MR with absent verbal ability, autistic signs, shifty eyes, severe myopia; 4y muscle biopsy discrete fiber size variability, slightly increased connective endomysial tissue, EMG myopathic changes, normal nerve conduction velocities, ERG moderate macular activity, MRI brain atrophy brain stem, abnormality periventricular white matter; CPK 800-1000 UI/l; intellectual disability (HP:0001249); 5y-able to walk"	"00y00m00d"	""	"swallowing difficulties"	"WB no DAG1"	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124554"	"05114"	"00152211"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124555"	"00360"	"00152212"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000124556"	"00198"	"00152213"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124557"	"00198"	"00152214"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124558"	"00198"	"00152215"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124559"	"00198"	"00152216"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124560"	"00198"	"00152217"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124561"	"00198"	"00152218"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124562"	"00198"	"00152219"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124563"	"00198"	"00152220"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124564"	"00198"	"00152221"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124565"	"00198"	"00152222"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124566"	"00198"	"00152223"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124567"	"00198"	"00152224"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124568"	"00198"	"00152225"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124569"	"00198"	"00152226"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124570"	"00198"	"00152227"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124571"	"00198"	"00152228"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124572"	"00198"	"00152229"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124573"	"00198"	"00152230"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124574"	"00198"	"00152231"	"00430"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"?"	""
"0000124575"	"05114"	"00152232"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000124576"	"00360"	"00152233"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000125500"	"05114"	"00095185"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125501"	"05114"	"00152539"	"00006"	"Familial, autosomal recessive"	"02y06m"	"microcephaly, spastic tetraparesis, max. motor achievement head control, rounded forehead, thin lips, short neck, micrognathia, retinopathy, severe mental retardation, CPK 1576 UI/l"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125504"	"05114"	"00152542"	"00006"	"Familial, autosomal recessive"	"17y"	"failure to thrive, global hypotonia, postural control not achieved, no facial dysmorphisms, severe mental retardation, myopia, cataracts, retinitis pigmentosa, CPK 1215 UI; 17y-sudden death"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125505"	"05114"	"00152543"	"00006"	"Familial, autosomal recessive"	"09y"	"macrocephaly, tetraparesis, postural control not achieved, frontal bossing, saddle nose, splayed nostrils, low-set ears, micrognathia, severe mental retardation, poor response to sounds and visual stimuli, no eye involvement, CPK 702 UI"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125506"	"05114"	"00152544"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125507"	"05114"	"00152545"	"00006"	"Familial, autosomal recessive"	"03y08m"	"see paper; ..."	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125508"	"05114"	"00152546"	"00006"	"Familial, autosomal recessive"	"06y"	"see paper; ..."	"01y"	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125509"	"05114"	"00152547"	"00006"	"Familial, autosomal recessive"	"02y03m"	"see paper; ..."	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125510"	"05114"	"00152548"	"00006"	"Familial, autosomal recessive"	"00y08m"	"see paper; ..."	""	""	"congenital blindness, motor retardation"	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125511"	"05114"	"00152549"	"00006"	"Familial, autosomal recessive"	"15y"	"CK 700 IU/l, optic disc paleness; brain MRI no ventriculomegaly (-HP:0002119), white matter abnormalities (HP:0002500), cerebellar cysts (HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); mild intellectual disability (HP:0001256)"	""	""	"mild developmental delay, paleness optic nerve"	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125512"	"05114"	"00152550"	"00006"	"Familial, autosomal recessive"	"19y"	"CK 923 IU/l, esotropia; brain MRI ventriculomegaly (HP:0002119), no white matter abnormalities (-HP:0002500), cerebellar cysts (HP:0002350), no brainstem hypoplasia (-HP:0002365), cortical dysplasia (HP:0002539), no cerebral atrophy (-HP:002509); moderate intellectual disability (HP:0002342); strabismus, partial seizures, moderate developmental delay"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125513"	"05114"	"00152551"	"00006"	"Familial, autosomal recessive"	"08y"	"see paper; ..., classical MEB associated, marked hydrocephalus"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125514"	"05114"	"00152552"	"00006"	"Familial, autosomal recessive"	"02y07m"	"see paper; ..., infatile spasms, hydrocephaly, brain MRI changes; CPK 550; onset neonatal"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125515"	"05114"	"00152553"	"00006"	"Familial, autosomal recessive"	"03y"	"CK 4267 IU/l, cataracts; brain MRI normal, no ventriculomegaly (-HP:0002119), no white matter abnormalities (-HP:0002500), no cerebellar cysts (-HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864)"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125516"	"05114"	"00152554"	"00006"	"Familial, autosomal recessive"	"15y"	"CK 4267 IU/l, cataracts; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), no cerebellar cysts (-HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864)"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125517"	"05114"	"00152555"	"00006"	"Familial, autosomal recessive"	"02y"	"CK 3451 IU/l, cataracts, glaucoma; brain MRI no ventriculomegaly (-HP:0002119), no white matter abnormalities (-HP:0002500), no cerebellar cysts (-HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), cerebral atrophy (HP:002509); severe intellectual disability (HP:0010864)"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125518"	"05114"	"00152556"	"00006"	"Familial, autosomal recessive"	"05y"	"CK 2300 IU/l; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), no cerebellar cysts (-HP:0002350), no brainstem hypoplasia (-HP:0002365), no cortical dysplasia (-HP:0002539), nocerebral atrophy (-HP:002509)"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125519"	"05114"	"00152557"	"00006"	"Familial, autosomal recessive"	"05y"	"CK 1394 IU/l, cataracts; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), cerebellar cysts (HP:0002350), no brainstem hypoplasia (-HP:0002365), cortical dysplasia (HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864)"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125520"	"05114"	"00152558"	"00006"	"Familial, autosomal recessive"	"09y"	"CK 2500 IU/l"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125521"	"05114"	"00152559"	"00006"	"Familial, autosomal recessive"	"07y"	"CK 2678 IU/l; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), cerebellar cysts (HP:0002350), brainstem hypoplasia (HP:0002365), cortical dysplasia (HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864)"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125522"	"05114"	"00152560"	"00006"	"Familial, autosomal recessive"	"09y"	"CK 2400 IU/l; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), cerebellar cysts (HP:0002350), brainstem hypoplasia (HP:0002365), cortical dysplasia (HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864)"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125523"	"05114"	"00152561"	"00006"	"Familial, autosomal recessive"	"12y"	"CK 1500 IU/l, retinal detachment; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), cerebellar cysts (HP:0002350), brainstem hypoplasia (HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); moderate intellectual disability (HP:0002342)"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125524"	"05114"	"00152562"	"00006"	"Familial, autosomal recessive"	"06y"	"CK 3000 IU/l, retinal detachment, optic atrophy; brain MRI ventriculomegaly (HP:0002119), white matter abnormalities (HP:0002500), no cerebellar cysts (-HP:0002350), brainstem hypoplasia (HP:0002365), no cortical dysplasia (-HP:0002539), no cerebral atrophy (-HP:002509); severe intellectual disability (HP:0010864)"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125525"	"05114"	"00152563"	"00006"	"Familial, autosomal recessive"	"01y08m"	"see paper; ..."	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125526"	"05114"	"00152564"	"00006"	"Familial, autosomal recessive"	"00y11m"	"14w ultra sound hydrocephalus, polyhydramnios; 38w-delivered by C-section, head 38 cm, hydrocephalus, hypotonia; 9d ventilator, no ventriculoperitoneal shunt; 3m-corneal clouding, bilateral glaucoma, high myopia, optic nerve hypoplasia, nystagmus; no epilepsy; mild/moderate cognitive and fine motor delays, no regression; moderate/severe gross motor delays with diffuse hypotonia, reflexes normal, HC at 55th\r\npercentile, height 5th percentile, weight 2nd percentile; everted lower lip, short nasal bridge, mild micrognathia, midface hypoplasia; CK 495 U/l; brain MRI abnormal without shunting"	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125527"	"05114"	"00152565"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125528"	"05114"	"00152566"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125529"	"05114"	"00152567"	"00006"	"Familial, autosomal recessive"	"01y"	""	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125530"	"00360"	"00152568"	"00006"	"Familial, autosomal recessive"	"30y"	"walked unassisted, no eye involvement, frontocortical dysplasia, hypoplastic pons, abnormal vermian foliation; 30y-severe mental retardation, epilepsy without evidence of ocular involvement on eye examination or ECG, slightly elevated serum CK (300-400U/l); brisk tendon reflexes, normal muscle strength with manual muscle testing, pseudohypertrophic appearance leg/thigh muscles"	"01y10m"	""	"seizures"	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000125531"	"00360"	"00152569"	"00006"	"Familial, autosomal recessive"	"07y"	"birth ocular abnormalities, muscular hypotonia; 10m-pileptic seizures; 6y-moderate mental retardation; walked unassisted, buphthalmus, corioretinal atrophy (R-eye), bilateral congenital myopia, frontocortical cortical dysplasia, white matter T2-weighted hyperintensity, hypoplastic pons, cerebellar cortical dysplasia, cerebellar cysts, raised CK 1500 U/l"	""	""	""	""	""	""	""	""	""	""	""
"0000125532"	"00360"	"00152570"	"00006"	"Familial, autosomal recessive"	""	"2m-ocular abnormalities, muscular hypotonia; stand unassisted, buphthalmus, megalocornea, glaucome, cataract (R-eye), frontocortical cortical dysplasia, hypoplastic pons, cerebellar cortical dysplasia, cerebellar cysts, raised CK 1000 U/l; 7y-severe mental retardation"	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000125533"	"00360"	"00152571"	"00006"	"Familial, autosomal recessive"	"07y07m"	"3y-CK 948 I/l; sat without support, esotropia, cataract, myopia"	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000125534"	"00360"	"00152572"	"00006"	"Familial, autosomal recessive"	"09y10m"	"no head control, esotropia, DAG1 reduced"	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000125536"	"05114"	"00152574"	"00006"	"Familial, autosomal recessive"	"12y"	"see paper; ..."	""	""	""	""	""	""	""	""	"MDDGA-3"	"muscle-eye-brain disease"	""
"0000125604"	"00360"	"00152675"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000125605"	"00360"	"00152676"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000125606"	"00360"	"00152677"	"00006"	"Familial, autosomal recessive"	"07y"	"see paper; …, ocular abnormalities, muscular hypotonia, stand with support, buphthalmus, megalocornea, glaucoma, cataract (right eye); MRI frontocortical dysplasia, hypoplastic pons, cerebellar cortical dysplasia, cerebellar cysts"	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000125607"	"00360"	"00152678"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000125608"	"00360"	"00152679"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000125609"	"00360"	"00152680"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"dystrophy, muscular, congenital"	""
"0000166495"	"00198"	"00218045"	"01807"	"Unknown"	""	"HP:0100753 (Schizophrenia)"	""	""	""	""	""	""	""	""	""	""	""
"0000203606"	"00360"	"00265820"	"00006"	"Familial, autosomal recessive"	"5y"	""	""	""	""	""	""	""	""	""	""	"alpha-dystroglycanopathy"	""
"0000224062"	"04214"	"00296658"	"00006"	"Familial, autosomal recessive"	"69y"	"10y-visual problems (HP:0000504); 69y-visual acuity 20/100 (HP:0007663), very restricted visual fields (HP:0030526) both eyes (Goldmann visual field test 5 degrees), fundus image bone spicules (HP:0007737), narrow vessels (HP:0008046), peripapillary atrophy (HP:0500087), tigroid appearance (HP:?)"	"10y"	""	"visual problems"	""	""	""	""	""	"RP76"	"non-syndromic retinitis pigmentosa"	""
"0000224063"	"04214"	"00296659"	"00006"	"Familial, autosomal recessive"	"78y"	"12y-nyctalopia (HP:0000662), vision problems (HP:0000504); 78y-visual acuity 20/80 OD (HP:0007663) and light perception OS, constricted visual fields (HP:0030526) 5 degrees, peripapillary atrophy (HP:0500087); funduscopy featured bone spicules (HP:0007737), attenuated retinal vessels (HP:0007843); optical coherence tomography revealed chorioretinal atrophy (HP:0000533), retinal thinning (HP:0030329) with absent inner segment/outer segment (IS/OS) junctions (HP:?) and cystoid macular edema (HP:0011505) both eyes"	"12y"	""	"nyctalopia, vision problems"	""	""	""	""	""	"RP76"	"non-syndromic retinitis pigmentosa"	""
"0000224080"	"04214"	"00296679"	"00006"	"Familial, autosomal recessive"	"32y"	"childhood night blindness (HP:0000662), best corrected visual acuity is 20/25 OD (HP:0007663) and 20/50 OS, diopter is 6.00–2.75×169degrees OD and −9.75 to 3.00×6degrees OS, fundus tigroid appearance (HP:?), possible thinning mid-peripheral retinal pigment epithelium (HP:?), loss of choroid-capillaries (HP:?), thinning outer retinal layer (HP:0030329) with preserved foveal photoreceptor IS/OS junction, constricted visual field (HP:0001133) both eyes, ERG non-detectable waves OU (HP:?), fundus auto-fluorescence oval shaped hypofluorescence (HP:?) with a hyperfluorescent ring macula (HP:?) and mottled hypofluorescence area peripheral retina (HP:?); no syndromic abnormalities were identified; normal serum creatine kinase level (-HP:0003236), MRI no periventricular white matter abnormality (-HP:0002500), no ventriculomegaly (-HP:0002119), no pontocerebellar hypoplasia (-HP:0006879), no cerebellar cyst (-HP:0002350)"	""	""	""	""	""	""	""	""	"RP76"	"retinitis pigmentosa"	""
"0000224081"	"04214"	"00296680"	"00006"	"Familial, autosomal recessive"	"52y"	"night blindness (HP:0000662) since youth; 52y visual acuity (HP:0007663) 20/400 OD, 20/40 OS, thinning whole retina (HP:0030329), flat fovea (HP:0000493), absent IS/OS junctions, bone-spicule (HP:0007737), salt-and-pepper pigment proliferation (HP:0007814) scattered in retina with macular involvement (HP:?) in both eyes, tunnel vision (HP:0007994) both eyes"	""	""	""	""	""	""	""	""	"RP76"	"retinitis pigmentosa"	""
"0000230689"	"00198"	"00303625"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., syndromic intellectual disability/developmental delay"	""	""	""	""	""	""	""	""	""	"syndromic ID/DD"	""
"0000252211"	"04214"	"00334026"	"00000"	"Familial, autosomal recessive"	"43y"	"clinical category IB1b"	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000254941"	"05121"	"00359668"	"00006"	"Familial, autosomal recessive"	"04y"	"see paper; ..., delayed speech, delayed language development, gait ataxia, global developmental delay, infantile-onset, microcephaly, motor delay, neurodevelopmental delay, poor speech, postnatal microcephaly, strabismus"	""	""	""	""	""	""	""	""	""	"muscular dystrophy"	""
"0000269658"	"00198"	"00374448"	"00006"	"Familial, autosomal recessive"	""	"Features suggestive of muscular dystrophy. Brain MRI showed anterior pachygyria and pontine hypoplasia with cerebellar vermian atrophy. Biochemical tests showed elevated CPK and SGPT/SGOT enzymes."	""	""	""	""	""	""	""	""	""	"muscular dystrophy"	""
"0000279202"	"04214"	"00385406"	"00000"	"Familial, autosomal recessive"	"38y"	"38"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000279203"	"04214"	"00385407"	"00000"	"Familial, autosomal recessive"	"56y"	"56"	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"	""
"0000281432"	"00139"	"00387864"	"00006"	"Familial, autosomal recessive"	""	"syndromic intellectual disability, no microcephaly"	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000283598"	"00198"	"00390059"	"00006"	"Familial, autosomal recessive"	"22y"	"Severe intellectual disability, developmental delay, congenital muscular dystrophy, absent speech, sensorineural hearing loss, hyperCkemia, stereotypies, severe visual impairment, cataract, hyperactivity, behavioral abnormalities, macular dystrophy"	""	""	""	""	""	""	""	""	""	""	""
"0000283599"	"00198"	"00390060"	"00006"	"Familial, autosomal recessive"	"18y"	"Severe intellectual disability, developmental delay, congenital muscular dystrophy, absent speech, sensorineural hearing loss, hyperCkemia, stereotypies, severe visual impairment, hydrocephaly, eczematous rash, squint"	""	""	""	""	""	""	""	""	""	""	""
"0000283617"	"04304"	"00390079"	"00006"	"Familial, autosomal recessive"	"3y"	"MRI brain hypoplastic corpus callosum, disorganization vermis and cerebellar hemispheres, asymmetric ventriculomegaly; hypoplastic corpus callosum, polymicrogyria, white matter abnormality, asymmetric ventriculomegaly, cerebellar cysts, hypoplastic pons; moderate global delay; special education; OFC -0.5 SD; no epilepsy; gait ataxia; no dystonia"	""	""	""	""	""	""	""	""	""	"congenital mirror movement"	""
"0000284083"	"05117"	"00390546"	"00006"	"Familial, autosomal dominant"	"5y7m"	"deceased; muscle-eye-brain disease; 8m-lift head; contractures elbow, knee; intellectual disability; no seizures; Optic nerve atrophy, retinal atrophy, macular dysplasia; VEP ab waves disappear in both eyes; CK level 1022-3893 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal"	"1d"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284084"	"05117"	"00390547"	"00006"	"Familial, autosomal dominant"	"12y5m"	"muscle-eye-brain disease; 5y-turn over; contractures ankle, knee; intellectual disability; no seizures; Microphthalmia, microcornea, right cataract, left severe myopia, left optic nerve atrophy, and left retinal dysplasia; CK level 1514 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia, eptum pellucidum"	"3m"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284085"	"05117"	"00390548"	"00006"	"Familial, autosomal dominant"	"7y8m"	"muscle-eye-brain disease; 6y2m-walk; contractures ankle; intellectual disability; no seizures; esotropia, optic nerve atrophy; CK level 345-1113 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal"	"1d"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284086"	"05117"	"00390549"	"00006"	"Familial, autosomal dominant"	"5y5m"	"muscle-eye-brain disease; 5y-walk; no contractures; intellectual disability; seizures; Optic nerve atrophy; CK level 867 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal"	"1d"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284087"	"05117"	"00390550"	"00006"	"Familial, autosomal dominant"	"4y3m"	"muscle-eye-brain disease; 3y6m-walk supported; no contractures; intellectual disability; no seizures; Optic nerve atrophy, retinal atrophy, macular dysplasia; CK level 569 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal"	"3m"	""	""	""	""	""	""	""	""	"congenital muscular dystrophy, no mental retardation"	""
"0000284088"	"05117"	"00390551"	"00006"	"Familial, autosomal dominant"	"4y2m"	"muscle-eye-brain disease; 3y6m-sit; contractures ankle; intellectual disability; seizures; Nystagmus, VEP amplitude  decreased with prolonged  latency; CK level 5190 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal"	"<0d"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284089"	"05117"	"00390552"	"00006"	"Familial, autosomal dominant"	"12y2m"	"muscle-eye-brain disease; 1y6m-walk; no contractures; intellectual disability; seizures; esotropia, myopia, nystagmus; CK level 948-1973 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia"	"5m"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284090"	"05117"	"00390553"	"00006"	"Familial, autosomal dominant"	"4y7m"	"muscle-eye-brain disease; 3y-walk and run; contractures ankle; intellectual disability; no seizures; macular dysplasia; CK level 1542 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; UGC tricuspid regurgitation"	"6m"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284091"	"05117"	"00390554"	"00006"	"Familial, autosomal dominant"	"2y5m"	"muscle-eye-brain disease; 1y6m-sit; contractures ankle, knee; intellectual disability; no seizures; esotropia; CK level 2375-6333 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia, hydrocephalus; EMG myogenic; IHC reduced DAG; EGC normal; UCG normal"	"<0d"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284092"	"05117"	"00390555"	"00006"	"Familial, autosomal dominant"	"3y10m"	"muscle-eye-brain disease; 2y1m-walk, 3y6m-run; contractures knee; intellectual disability; seizures; esotropia; CK level 1317-2888 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal"	"3m"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284093"	"05117"	"00390556"	"00006"	"Familial, autosomal dominant"	"13y11m"	"congenital muscular dystrophy, mental retardation; 1y6m-walk, 9y-run; no contractures; intellectual disability; no seizures; no eye involvement; CK level 1439-2142 IU/L; MRI brain nonspecific white matter changes; muscle biopsy muscular dystrophy; UGC tricuspid regurgitation"	"5m"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284094"	"05117"	"00390557"	"00006"	"Familial, autosomal dominant"	"10y1m"	"congenital muscular dystrophy, mental retardation; 1y8m-walk, 3y-run; no contractures; intellectual disability; no seizures; no eye involvement; CK level 420 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia"	"1d"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284095"	"05117"	"00390558"	"00006"	"Familial, autosomal dominant"	"2y8m"	"congenital muscular dystrophy, mental retardation; 2y6m-run; no contractures; intellectual disability; no seizures; no eye involvement; CK level 1458 IU/L; MRI brain polymicrogyria or pachygyria; UCG normal"	"3m"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284096"	"05117"	"00390559"	"00006"	"Familial, autosomal dominant"	"4y11m"	"limb-girdle muscular dystrophy; 1y2m-walk, 1-2y-run; no contractures; no intellectual disability; no seizures; CK level 1999-5429 IU/L; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal"	"3y6m"	""	"hyperCKemia"	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000287825"	"04214"	"00394622"	"00000"	"Familial, autosomal recessive"	"35y"	""	"21y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000302361"	"00198"	"00410256"	"00000"	"Familial, autosomal recessive"	"10m"	"Birth weight 2505 g (-2.5 standard deviations, SD), head circumference: 33 cm (-1.3 SD); bilateral coloboma of the iris and fundus and opacification of the inferior nasal part of the cornea; 2 months: right-sided inguinal hernia surgically corrected; one month later hospitalisation because of feeding difficulties and a laryngomalacia was diagnosed by laryngotracheobronchoscopy. 3m3w: length 58.5 cm (-2.3 SD), head circumference 36 cm (-2.5 SD); 80 dB mixed hearing loss of the left ear, 11 pairs of ribs with a hypoplastic first rib (left side more pronounced than right side), a sacral dimple and hypertonia; cerebral magnetic resonance imaging, cardiac and renal ultrasound, metabolic screening (including creatine kinase): normal; intra-uterine infections, especially cytomegalovirus infection: excluded; last examination: 9 months old, despite continuing feeding problems, catch-up growth with a length of 71 cm (-0.9 SD); microcephaly severely progressive - head circumference of 39.2 cm (-5.0 SD) with plagiocephaly; craniosynostosis excluded by X-ray examination; nystagmus with severe visual impairment, axial hypotonia with head lag, hypertonia of limbs and developmental delay were noted during neurological examination; no directive movements or visual pursuit; clinical episodes of suspected convulsions, electroencephalography: no signs of epilepsy"	"0m"	""	""	""	""	""	""	""	"intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay"	""	""
"0000302363"	"00073"	"00410258"	"00000"	"Familial, autosomal recessive"	"7y"	"creatine kinase units/l (normal values in the range of 24-240): 1000; biopsy: yes"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302364"	"00073"	"00410259"	"00000"	"Familial, autosomal recessive"	"12y"	"creatine kinase units/l (normal values in the range of 24-240): 2365; biopsy: not done"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302365"	"00073"	"00410260"	"00000"	"Familial, autosomal recessive"	"8y"	"creatine kinase units/l (normal values in the range of 24-240): 1844; biopsy: not done"	""	""	""	""	""	""	""	""	""	"muscle-eye-brain disease or severe Fukuyama congenital muscular dystrophy"	""
"0000302366"	"00073"	"00410261"	"00000"	"Familial, autosomal recessive"	"7y"	"creatine kinase units/l (normal values in the range of 24-240): 852; biopsy: not done"	""	""	""	""	""	""	""	""	""	"muscle-eye-brain disease or severe Fukuyama congenital muscular dystrophy"	""
"0000302367"	"00198"	"00410262"	"00000"	"Familial, autosomal recessive"	"11m"	"creatine kinase units/l (normal values in the range of 24-240): 495; biopsy: not done"	""	""	""	""	""	""	""	""	""	"postnatal diagnosis of hydrocephalus"	""
"0000302368"	"00073"	"00410263"	"00000"	"Familial, autosomal recessive"	"09y"	"creatine kinase units/l (normal values in the range of 24-240): 2327; biopsy: not done"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302369"	"00073"	"00410264"	"00000"	"Familial, autosomal recessive"	"00y20m"	"creatine kinase units/l (normal values in the range of 24-240): >3000; biopsy: yes"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302370"	"00073"	"00410265"	"00000"	"Familial, autosomal recessive"	"17y"	"creatine kinase units/l (normal values in the range of 24-240): nd; biopsy: yes"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302371"	"00073"	"00410266"	"00000"	"Familial, autosomal recessive"	"15m"	"creatine kinase units/l (normal values in the range of 24-240): 2697; biopsy: not done"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A4"	""	""
"0000302372"	"00073"	"00410267"	"00000"	"Familial, autosomal recessive"	"00y03m"	"creatine kinase units/l (normal values in the range of 24-240): 1798; biopsy: not done"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302373"	"00073"	"00410268"	"00000"	"Familial, autosomal recessive"	"14y"	"creatine kinase units/l (normal values in the range of 24-240): 724; biopsy: not done"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302374"	"00073"	"00410269"	"00000"	"Familial, autosomal recessive"	"02y"	"creatine kinase units/l (normal values in the range of 24-240): 1000; biopsy: not done"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302375"	"00073"	"00410270"	"00000"	"Familial, autosomal recessive"	""	"creatine kinase units/l (normal values in the range of 24-240): 1000; biopsy: yes"	""	""	""	""	""	""	""	""	""	"muscle-eye-brain disease or Fukuyama congenital muscular dystrophy"	""
"0000302376"	"00073"	"00410271"	"00000"	"Familial, autosomal recessive"	""	"creatine kinase units/l (normal values in the range of 24-240): nd; biopsy: not done"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302377"	"00073"	"00410272"	"00000"	"Familial, autosomal recessive"	""	"creatine kinase units/l (normal values in the range of 24-240): nd; biopsy: yes"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302378"	"00073"	"00410273"	"00000"	"Familial, autosomal recessive"	""	"creatine kinase units/l (normal values in the range of 24-240): nd; biopsy: not done"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302379"	"00073"	"00410274"	"00000"	"Familial, autosomal recessive"	"05y"	"creatine kinase units/l (normal values in the range of 24-240): 1953; biopsy: yes"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302380"	"00073"	"00410275"	"00000"	"Familial, autosomal recessive"	"16y"	"creatine kinase units/l (normal values in the range of 24-240): 9311; biopsy: yes"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302381"	"00073"	"00410276"	"00000"	"Familial, autosomal recessive"	"21y"	"creatine kinase units/l (normal values in the range of 24-240): 12000; biopsy: yes"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302382"	"00073"	"00410277"	"00000"	"Familial, autosomal recessive"	"12d"	"suspected retinal detachment in the right eye noted soon after birth; endoscopic third ventriculostomy at 1 day of life for hydrocephalus after magnetic resonance imaging revealed severe brain and brainstem malformation with an absent corpus callosum, cortical gyral thickening, cerebellar vermian hypoplasia, and markedly enlarged lateral and third ventricles; unremarkable anterior segment both eyes; fundus right eye: retinal detachment that obscured the optic nerve and fovea, but with a bullous elevation in a nearby macular area and superior elevated fibrosis - avascular retina with multiple lacunae and full-thickness holes; left eye: moderate optic nerve hypoplasia, an indistinct but attached fovea, and an anomalous distribution of vessels with very reduced caliber to vessels coursing superiorly, which appeared to terminate in the equatorial zone; periphery of the left eye featureless with poor pigmentation and an impressive extent of visible choroidal vasculature; fluorescein angiography right eye: leakage from the fibrosis, indicative of extraretinal fibrovascular proliferation, left eye: hypoplastic retina with prominent choroidal flush and anomalous vasculature that terminated in the equatorial zone; prophylactic laser treatment performed in each eye in areas of nonperfusion, and pars plana vitrectomy, lensectomy, and silicone oil placement were performed in the right eye"	"0d"	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302383"	"04214"	"00410278"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302384"	"04214"	"00410279"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302385"	"04214"	"00410280"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302386"	"04214"	"00410281"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302387"	"04214"	"00410282"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302388"	"04214"	"00410283"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302389"	"04214"	"00410284"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302390"	"04214"	"00410285"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302391"	"04214"	"00410286"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302392"	"04214"	"00410287"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302393"	"04214"	"00410288"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302394"	"04214"	"00410289"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302395"	"04214"	"00410290"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302396"	"04214"	"00410291"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302397"	"04214"	"00410292"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302398"	"04214"	"00410293"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302399"	"04214"	"00410294"	"00000"	"Familial, autosomal recessive"	""	"night blindness, peripheral visual field loss, ophthalmoscopy: typical attenuated retinal arterioles, bone-spicule pigment deposits, and optic disc pallor; electroretinography: rod responses severely reduced; no mental retardation and no muscle weakness or atrophy observed"	""	""	""	"specific enzyme activity: mutant proteins showed approximately 21.0% of wild-type activity"	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302400"	"00073"	"00410295"	"00000"	"Familial, autosomal recessive"	">40y"	"institutional care since childhood; magnetic resonance: cobble-stone malformation of the cortex, a thin corpus callosum, lower vermis hypoplasia, brain stem hypoplasia, absent septum pellucidum and ventriculomegaly; 1y: serum creatine kinase: 141 U/L (upper normal 220 U/L); patient profoundly intellectually disabled and unable to communicate, but generally content and peaceful when they are healthy; enjoy being outdoors, being stroked, and holding vibrating sensory toys; small head circumference of about 53 cm (-2SD), ~ 160 cm tall (-1SD), weight fluctuating between 60 and 65 kg; drawn to lack of eye contact and little reaction to their environment apart from laughter provoked by sudden loud noises; dilated pupils and a mature cataract in one eye; ocular examination under anesthesia in: subluxation of the lenses in the eye without a cataract, initially raising suspicions of a tumor and iris rubeosis; mouth open revealing excessively worn teeth due to bruxism; patient holds her hands in her lap; contractures in the upper limb joints (knuckles); retained ability to move their limbs and grasp objects. At the age of 20 ability to stand holding a frame (but no longer); clubfoot; now ability to roll from lying on the back onto the side, and when assisted to a sitting position - maintaining this position for some time; neck support in their wheelchair or stroller due to sporadic violent head swings; repeated bowel obstruction; eats pureed food with a spoon but requires assistance with drinking; bowel function is ensured with medication; antiepileptic monotherapy: levetiracetam; no epileptic seizure for years; electroencaphalography registration of wakefulness: a high frequency of high-amplitude discharges located in the frontal parts in addition to generalized slowing; periods of hypothermia (body temperature 31-34degC) with or without any clear infection or without other causes of hypothermia, such as exposure to cold, hypothyroidism, malnutrition or neuroleptic medication - mainly sleeping during these periods; irregular sleep patterns, and low systolic (76-92 mmHg) and diastolic blood pressure (59-61 mmHg). Hormone treatment has been used to end menstruation"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302401"	"00073"	"00410296"	"00000"	"Familial, autosomal recessive"	">40y"	"institutional care since childhood; magnetic resonance: cobble-stone malformation of the cortex, a thin corpus callosum, lower vermis hypoplasia, brain stem hypoplasia, absent septum pellucidum and ventriculomegaly; 5y: serum creatine kinase: 548 U/L (upper normal 220 U/L); patient profoundly intellectually disabled and unable to communicate, but generally content and peaceful when they are healthy; enjoy being outdoors, being stroked, and holding vibrating sensory toys; small head circumference of about 53 cm (-2SD), ~ 160 cm tall (-1SD), weight fluctuating between 60 and 65 kg; drawn to lack of eye contact and little reaction to their environment apart from laughter provoked by sudden loud noises; dilated pupils and a mature cataract in one eye; mouth open revealing excessively worn teeth due to bruxism; patient almost always cups her chin with her upper limbs, touching her face with her hands; contractures in the upper limb joints (elbow), retained ability to move their limbs and grasp objects. At the age of 20 ability to stand holding a frame (but no longer); clubfoot; now ability to roll from lying on the back onto the side, and when assisted to a sitting position - maintaining this position for some time; neck support in their wheelchair or stroller due to sporadic violent head swings; repeated bowel obstruction; fitted with a gastrostomy tube; bowel function is ensured with medication; antiepileptic monotherapy: lamotrigine - on average weekly short tonic-clonic seizures accompanied by shouting; electroencaphalography during slow-wave-sleep: continuous slow spike-sharp-polyspike-slow wave discharge located in the right temporal lobe, which at times becomes more generalized, during times of wakefulness, irritative activity in the right temporal lobe is evidentperiods of hypothermia (body temperature 31-34degC) with or without any clear infection or without other causes of hypothermia, such as exposure to cold, hypothyroidism, malnutrition or neuroleptic medication - mainly sleeping during these periods. of hypothermia, the women mainly sleep; irregular sleep patterns, and low systolic (76-92 mmHg) and diastolic blood pressure (59-61 mmHg). Hormone treatment has been used to end menstruation"	""	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302402"	"00073"	"00410297"	"00000"	"Familial, autosomal recessive"	"6y"	"delivery: scheduled Cesarean section due to high myopia; birth weight: 3650 g, height: 52 cm; hypotonia at birth; motor milestones: delayed: held head by 7 months, rolled from back to side at 8 months, put into sitting position by 24 months, walked with support at 2,5 years, walked independently at 4 years; speech development: delayed: 6y non-verbal. 8m: hospitalized, brain computed tomography: signs of leukodystrophy and cortical atrophy of frontal, parietal and temporal areas; 13m: brain magnetic resonance imaging: signs of leukodystrophy, lissencephaly of left occipital lobe, polymicrogyria of both frontal lobes, secondary ventriculomegaly, brain atrophic changes with enlargement of sub-arachnoid spaces; biochemical analysis: creatine kinase: 2024 U/L (normal range 25-140 U/L), alanine aminotransferase (ALT): 59 U/L (upper limit of normal 40 U/L), aspartate aminotransferase (AST): 82 U/L (upper limit of normal 42 U/L), lactate dehydrogenase (LDH): 318 U/L (upper limit of normal 225 U/L); electromyography: signs of primary muscle lesion. 6y: weight 21 kg, height 113 cm, head circumference 53 cm; convergent strabismus, insufficiency of convergence and accommodation; hypotonia, distal more than proximal, trunk ataxia, walking on the toes with an atactic component, flat valgus foot reacted; able to maintain short-term eye contact; speech is misunderstood; face - hypomimic; behavioral features: periodic fading with subsequent rapidity of breathing and stereotyped swings of hands, orthopedic examination revealed thoracic hypokyphosis, lumbar hyperlordosis, double-sided coxa valga, pathological antetorsion on the right, equinox flat valgus feet; limb movements were not restricted except for restriction of back flexion in the ankles; ophthalmological examination: congenital high myopia, partial atrophy of an optic nerve and retinal atrophy in both eyes; magnetic resonance imaging: hypoplasia of temporal lobes and opercular areas from two sides, hypoplasia of caudal parts of the cerebellum worm with the expansion of external subarachnoid spaces of the cerebral hemispheres (more in the temporal areas), expansion of retrocerebellar cistern, symmetrical expansion of the ventricular system, pachygyria-polymicrogyria of cerebral hemispheres with preservation of the occipital lobe; cerebellum: multiple small cysts, hypoplasia of the corpus callosum and pons with the extension of the anterior and covering cisterns are revealed; biochemical analysis: CK - 2253 U/L , ALT - 70,4 U/L, AST - 62 U/L, LDH - 503 U/L; other blood and urine indicators: normal; level of CK was increased 10-15 times and for two years decreased from 3126 (3 years 4 months) to 1986 (at 5 years 2 months). creatine kinase-muscle/brain: 61.1 (upper limit of normal 25 U/L); electroneuromyography: signs of primary muscle; motor unit potentials (MUP) were short in duration and low in amplitude. The number of polyphasic MUP has increased. Spontaneous activity in each test muscle- electroencephalography - no epileptiform activity; electrocardiogram: vertical position of the electrical heart axis, mild bradycardia and arrhythmia, nonspecific intraventricular block, early repolarization syndrome of the ventricles; karyotype: normal; tandem mass spectrometry: no changes in the plasma level of amino acids and acylcarnitines"	"0m"	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000302403"	"00073"	"00410298"	"00000"	"Familial, autosomal recessive"	"3y"	"9m: progressively increasing esotropia, initially diagnosed at 3 months of age, developmental delay; rapid and unsteady eye movements and torticollis; abnormal fetal magnetic resonance imaging: cerebral ventriculomegaly, cyanosis at birth, and global developmental delay, with central weakness and hypotonia; visual acuity (assessed by preferential looking testing) right, left eye: 20/130, 20/270; pupils: 3.5 mm and minimally reactive to light; cycloplegic refraction: -2.50 sphere bothe eyes; anterior segment: unremarkable; sensorimotor evaluation: pendular, horizontal nystagmus with occasional jerk-like movements, full ductions and versions, and 45D-50D of esotropia at near; fundus: pale and hypoplastic-appearing optic nerves, with anomalous vascular loops; retina had a dysplastic appearance, and the retinal vasculature (and presumed fovea) appeared to have been dragged inferiorly; vertical deviation was thus recognized to be a large vertical angle kappa � no focus of traction to explain the apparent retinal dragging; however, the peripheral retina was avascular in both eyes; laboratory evaluation: elevated creatine kinase at 3213 U/L; magnetic resonance imaging: low-volume cerebral white matter with a diffusely abnormal hyperintense T2 signal, polymicrogyria of the frontal lobes and perisylvian regions, cerebellar dysgenesis, pontine hypoplasia, and ventriculomegaly dystrophy; esotropia was treated with an injection of 5 units of botulinum toxin (onabotulinumtoxin A to each medial rectus muscle during the examination under anesthesia; presumed amblyopia was treated with 4 hours of daily patching of the right eye. Follow-up at 13m: visual acuity unchanged, persistent right eye fixation preference, myopia increased to -3.75 D sphere in both eyes; persistent V-pattern esotropia of 40D at near (Krimsky) was managed with a repeat injection of 5 units of botulinum toxin into both medial rectus muscles for the esotropia and additional 5 units into both inferior oblique muscles for the V pattern; minimal residual esotropia"	"3m"	""	""	""	""	""	""	""	"dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3"	""	""
"0000318045"	"04214"	"00426907"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	"cone dystrophy"	""
"0000320891"	"00112"	"00430019"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321203"	"05618"	"00430406"	"00006"	"Familial, autosomal recessive"	"4y"	"hyperCKemia, congenital muscular dystrophy; muscle biopsy alpha dystroglycan deficiency"	""	""	""	""	""	""	""	""	""	"neuromuscular disorder"	""
"0000323843"	"00307"	"00433322"	"00006"	"Familial, autosomal recessive"	""	"hydrocephaly; MRI 22w-H severe, small cerebellum, Sylvius aqueduct agenesis, mild hypoplasia vermis and cerebellum"	""	""	""	""	""	""	""	""	""	"hydrocephaly"	""
"0000328387"	"05121"	"00438484"	"00006"	"Familial, autosomal recessive"	"4y"	"hyperCKemia, congenital muscular dystrophy muscle biopsy: alpha dystroglycan deficiency"	""	""	""	""	""	""	""	""	""	"muscular dystrophy/myopathy"	""
"0000336921"	"00198"	"00447722"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"unclear diagnosis"	""


## Screenings ## Do not remove or alter this header ##
## Count = 298
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000061"	"00000061"	"1"	"00004"	""	"2012-05-11 13:18:54"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000076"	"00000076"	"1"	"00004"	""	"2012-05-11 13:19:02"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000095583"	"00095185"	"1"	"01866"	"01866"	"2017-01-11 00:30:08"	""	""	"SEQ-NG"	"DNA"	""	""
"0000095584"	"00095186"	"1"	"01866"	"01866"	"2017-01-11 00:42:20"	""	""	"SEQ-NG"	"DNA"	""	""
"0000095586"	"00095188"	"1"	"01866"	"01866"	"2017-01-11 00:53:49"	""	""	"SEQ-NG"	"DNA"	""	""
"0000152323"	"00151468"	"1"	"00400"	"00400"	"2006-09-15 20:05:00"	"00006"	"2018-02-02 13:50:51"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000152987"	"00152130"	"1"	"00006"	"00006"	"2006-08-13 22:50:24"	"00006"	"2012-03-09 19:08:25"	"SEQ"	"DNA"	""	""
"0000152988"	"00152131"	"1"	"00006"	"00006"	"2006-08-21 21:16:08"	"00006"	"2013-02-01 19:44:12"	"SSCA;SEQ"	"DNA"	""	""
"0000152989"	"00152132"	"1"	"00006"	"00006"	"2006-08-21 21:27:12"	"00006"	"2013-02-01 19:44:12"	"SSCA;SEQ"	"DNA;RNA"	""	""
"0000152990"	"00152133"	"1"	"00006"	"00006"	"2006-08-21 21:27:55"	"00006"	"2013-02-01 19:44:12"	"SSCA;SEQ"	"DNA;RNA"	""	""
"0000152991"	"00152134"	"1"	"00006"	"00006"	"2006-09-23 12:04:46"	"00006"	"2013-02-01 19:44:12"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000152992"	"00152135"	"1"	"00006"	"00006"	"2006-09-23 15:15:31"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000152994"	"00152137"	"1"	"00006"	"00006"	"2006-08-20 12:31:06"	"00006"	"2013-02-01 19:44:12"	"SSCA;SEQ"	"DNA"	""	""
"0000152995"	"00152138"	"1"	"00006"	"00006"	"2006-08-13 17:44:56"	"00006"	"2012-03-09 19:02:29"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000152996"	"00152139"	"1"	"00006"	"00006"	"2006-08-13 20:08:01"	"00006"	"2013-02-01 19:44:12"	"SSCA;SEQ"	"DNA;RNA"	""	""
"0000152997"	"00152140"	"1"	"00006"	"00006"	"2006-08-21 21:28:41"	"00006"	"2013-02-01 19:44:12"	"SSCA;SEQ"	"DNA;RNA"	""	""
"0000152998"	"00152141"	"1"	"00006"	"00006"	"2006-08-21 21:34:25"	"00006"	"2013-02-01 19:44:12"	"SSCA;SEQ"	"DNA;RNA"	""	""
"0000152999"	"00152142"	"1"	"00006"	"00006"	"2006-08-21 21:37:28"	"00006"	"2013-02-01 19:44:12"	"RT-PCR;SSCA;SEQ"	"DNA;RNA"	""	""
"0000153000"	"00152143"	"1"	"00006"	"00006"	"2006-08-21 22:27:25"	"00006"	"2012-03-09 19:03:40"	"SSCA;SEQ"	"DNA"	""	""
"0000153001"	"00152144"	"1"	"00006"	"00006"	"2006-09-23 12:32:31"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000153002"	"00152145"	"1"	"00006"	"00006"	"2006-09-23 14:53:20"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153003"	"00152146"	"1"	"00006"	"00006"	"2006-08-13 17:42:40"	"00006"	"2012-03-09 19:02:29"	"SEQ"	"DNA"	""	""
"0000153004"	"00152147"	"1"	"00006"	"00006"	"2006-08-13 17:43:31"	"00006"	"2012-03-09 19:02:29"	"SEQ"	"DNA"	""	""
"0000153005"	"00152148"	"1"	"00006"	"00006"	"2006-08-13 20:05:33"	"00006"	"2012-03-09 18:55:42"	"SEQ"	"DNA"	""	""
"0000153006"	"00152149"	"1"	"00006"	"00006"	"2006-08-13 17:49:16"	"00006"	"2012-03-09 19:02:29"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000153007"	"00152150"	"1"	"00006"	"00006"	"2006-08-13 17:54:14"	"00006"	"2012-03-09 19:02:29"	"SEQ"	"DNA"	""	""
"0000153008"	"00152151"	"1"	"00006"	"00006"	"2006-08-13 17:58:12"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153009"	"00152152"	"1"	"00006"	"00006"	"2006-08-13 19:38:12"	"00006"	"2013-01-17 22:23:31"	"SEQ"	"DNA"	""	""
"0000153010"	"00152153"	"1"	"00006"	"00006"	"2006-08-13 23:15:12"	"00006"	"2012-03-10 10:41:17"	"RT-PCR;SSCA;SEQ"	"DNA;RNA"	""	""
"0000153011"	"00152154"	"1"	"00006"	"00006"	"2006-08-13 19:42:04"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000153012"	"00152155"	"1"	"00006"	"00006"	"2006-08-13 19:57:27"	"00006"	"2013-01-17 22:34:22"	"RT-PCR;SSCA;SEQ"	"DNA;RNA"	""	""
"0000153013"	"00152156"	"1"	"00006"	"00006"	"2006-08-13 22:32:07"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000153014"	"00152157"	"1"	"00006"	"00006"	"2006-08-13 22:39:14"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000153015"	"00152158"	"1"	"00006"	"00006"	"2006-08-13 22:43:37"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000153016"	"00152159"	"1"	"00006"	"00006"	"2006-08-21 21:11:33"	"00006"	"2012-03-09 19:03:40"	"SSCA;SEQ"	"DNA"	""	""
"0000153017"	"00152160"	"1"	"00006"	"00006"	"2006-08-21 21:31:44"	"00006"	"2013-02-01 19:44:12"	"SSCA;SEQ"	"DNA;RNA"	""	""
"0000153018"	"00152161"	"1"	"00006"	"00006"	"2006-08-21 21:35:17"	"00006"	"2013-02-01 19:44:12"	"RT-PCR;SSCA;SEQ"	"DNA;RNA"	""	""
"0000153019"	"00152162"	"1"	"00006"	"00006"	"2006-08-21 21:18:44"	"00006"	"2013-01-17 22:41:29"	"SEQ;SSCA"	"DNA"	""	""
"0000153020"	"00152163"	"1"	"00006"	"00006"	"2006-09-15 19:52:28"	"00006"	"2017-03-31 14:13:45"	"SEQ"	"DNA"	""	""
"0000153021"	"00152164"	"1"	"00006"	"00006"	"2006-09-23 12:11:04"	"00006"	"2012-03-09 19:03:40"	"SEQ"	"DNA"	""	""
"0000153022"	"00152165"	"1"	"00006"	"00006"	"2006-08-20 12:28:38"	"00006"	"2013-02-01 19:44:12"	"SSCA;SEQ"	"DNA"	""	""
"0000153023"	"00152166"	"1"	"00006"	"00006"	"2006-08-21 21:50:32"	"00006"	"2013-02-01 19:44:12"	"SSCA;SEQ"	"DNA;RNA"	""	""
"0000153024"	"00152167"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153025"	"00152168"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153026"	"00152169"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153027"	"00152170"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153028"	"00152171"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153029"	"00152172"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2012-03-09 18:55:42"	"SEQ"	"DNA"	""	""
"0000153030"	"00152173"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153031"	"00152174"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153032"	"00152175"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153033"	"00152176"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153034"	"00152177"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153035"	"00152178"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153036"	"00152179"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153037"	"00152180"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153038"	"00152181"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153039"	"00152182"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153040"	"00152183"	"1"	"00006"	"00006"	"2008-01-27 16:57:45"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153041"	"00152184"	"1"	"00006"	"00006"	"2008-02-08 08:58:31"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153042"	"00152185"	"1"	"00006"	"00006"	"2008-02-08 08:58:31"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153043"	"00152186"	"1"	"00006"	"00006"	"2008-07-18 17:55:35"	"00006"	"2018-02-03 16:37:51"	"SEQ"	"DNA"	""	""
"0000153044"	"00152187"	"1"	"00006"	"00006"	"2008-07-18 17:55:35"	"00006"	"2018-02-03 16:36:44"	"SEQ"	"DNA"	""	""
"0000153045"	"00152188"	"1"	"00006"	"00006"	"2008-07-18 17:55:35"	"00006"	"2018-02-03 16:38:58"	"SEQ"	"DNA"	""	""
"0000153046"	"00152189"	"1"	"00006"	"00006"	"2008-07-18 17:55:35"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA;RNA"	""	""
"0000153047"	"00152190"	"1"	"00006"	"00006"	"2008-07-18 17:55:35"	"00006"	"2013-02-01 19:44:12"	"SEQ;PCRq"	"DNA"	""	""
"0000153048"	"00152191"	"1"	"00006"	"00006"	"2008-07-18 17:55:35"	"00006"	"2013-02-01 19:44:12"	"SEQ;PCRq"	"DNA"	""	""
"0000153049"	"00152192"	"1"	"00400"	"00006"	"2008-08-14 16:36:25"	"00006"	"2012-03-10 10:40:46"	"SEQ"	"DNA"	""	""
"0000153050"	"00152193"	"1"	"00400"	"00006"	"2008-08-14 16:36:26"	"00006"	"2012-03-10 10:40:46"	"SEQ"	"DNA"	""	""
"0000153052"	"00152195"	"1"	"00400"	"00006"	"2008-08-14 16:36:26"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000153053"	"00152196"	"1"	"00400"	"00006"	"2008-08-14 16:36:26"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000153054"	"00152197"	"1"	"00400"	"00006"	"2008-08-14 16:36:26"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000153055"	"00152198"	"1"	"00400"	"00006"	"2008-08-14 16:36:26"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000153056"	"00152199"	"1"	"00400"	"00006"	"2008-08-14 16:36:26"	"00006"	"2012-03-10 10:40:46"	"SEQ"	"DNA"	""	""
"0000153057"	"00152200"	"1"	"00400"	"00006"	"2008-08-14 16:36:26"	"00006"	"2012-03-10 10:40:46"	"SEQ"	"DNA"	""	""
"0000153058"	"00152201"	"1"	"00400"	"00006"	"2008-08-14 16:36:26"	"00006"	"2012-03-09 18:27:00"	"SEQ"	"DNA"	""	""
"0000153059"	"00152202"	"1"	"00464"	"00464"	"2009-06-16 22:35:54"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153060"	"00152203"	"1"	"00464"	"00464"	"2009-09-14 23:11:44"	"00006"	"2012-05-20 11:29:21"	"SEQ"	"DNA"	""	""
"0000153061"	"00152204"	"1"	"00464"	"00464"	"2010-05-03 17:51:40"	"00006"	"2013-02-01 19:44:12"	"PCR;SEQ"	"DNA"	""	""
"0000153062"	"00152205"	"1"	"00464"	"00464"	"2010-10-15 22:15:32"	"00006"	"2013-02-01 19:44:12"	"PCR;SEQ"	"DNA"	""	""
"0000153063"	"00152206"	"1"	"00464"	"00464"	"2010-10-15 22:20:30"	"00006"	"2013-02-01 19:44:12"	"PCR;SEQ"	"DNA"	""	""
"0000153064"	"00152207"	"1"	"00006"	"00006"	"2011-03-13 12:19:48"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153065"	"00152208"	"1"	"00006"	"00006"	"2011-03-13 12:19:48"	"00006"	"2013-02-01 19:44:12"	"SEQ"	"DNA"	""	""
"0000153066"	"00152209"	"1"	"00006"	"00006"	"2012-04-23 15:06:48"	""	""	"arrayCGH;PCRq;SEQ"	"DNA"	""	""
"0000153067"	"00152210"	"1"	"00006"	"00006"	"2012-04-23 15:06:48"	"00006"	"2012-04-23 15:08:37"	"arrayCGH;PCRq;SEQ"	"DNA"	""	""
"0000153068"	"00152211"	"1"	"00464"	"00464"	"2012-06-04 16:38:39"	"00006"	"2012-07-20 17:40:02"	"PCR;SEQ"	"DNA"	""	""
"0000153069"	"00152212"	"1"	"00464"	"00464"	"2012-10-19 18:12:56"	"00006"	"2012-10-23 21:05:13"	"PCR;SEQ"	"DNA"	""	""
"0000153070"	"00152213"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153071"	"00152214"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153072"	"00152215"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153073"	"00152216"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153074"	"00152217"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153075"	"00152218"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153076"	"00152219"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153077"	"00152220"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153078"	"00152221"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153079"	"00152222"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153080"	"00152223"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153081"	"00152224"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153082"	"00152225"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153083"	"00152226"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153084"	"00152227"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153085"	"00152228"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153086"	"00152229"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153087"	"00152230"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153088"	"00152231"	"1"	"00430"	"00430"	"2012-10-26 14:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000153089"	"00152232"	"1"	"00464"	"00464"	"2013-01-15 21:09:13"	"00006"	"2013-01-17 21:36:11"	"PCR;SEQ"	"DNA"	""	""
"0000153090"	"00152233"	"1"	"00464"	"00464"	"2013-10-31 15:58:10"	"00006"	"2013-11-01 17:08:33"	"PCR;SEQ"	"DNA"	""	""
"0000153396"	"00152539"	"1"	"00006"	"00006"	"2018-02-02 20:20:18"	"00006"	"2018-02-02 20:23:57"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000153399"	"00152542"	"1"	"00006"	"00006"	"2018-02-02 21:46:17"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000153400"	"00152543"	"1"	"00006"	"00006"	"2018-02-02 21:57:08"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000153401"	"00152544"	"1"	"00006"	"00006"	"2018-02-02 22:09:46"	""	""	"SEQ"	"DNA"	""	""
"0000153402"	"00152545"	"1"	"00006"	"00006"	"2018-02-02 22:53:07"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000153403"	"00152546"	"1"	"00006"	"00006"	"2018-02-02 23:04:25"	""	""	"SEQ"	"DNA"	""	""
"0000153404"	"00152547"	"1"	"00006"	"00006"	"2018-02-02 23:10:32"	""	""	"SEQ"	"DNA"	""	""
"0000153405"	"00152548"	"1"	"00006"	"00006"	"2018-02-03 12:03:35"	""	""	"SEQ"	"DNA"	""	""
"0000153406"	"00152549"	"1"	"00006"	"00006"	"2018-02-03 12:34:53"	""	""	"SEQ"	"DNA"	""	""
"0000153407"	"00152550"	"1"	"00006"	"00006"	"2018-02-03 12:45:07"	""	""	"SEQ"	"DNA"	""	""
"0000153408"	"00152551"	"1"	"00006"	"00006"	"2018-02-03 12:56:51"	""	""	"SEQ"	"DNA"	""	""
"0000153409"	"00152552"	"1"	"00006"	"00006"	"2018-02-03 13:03:02"	""	""	"SEQ"	"DNA"	""	""
"0000153410"	"00152553"	"1"	"00006"	"00006"	"2018-02-03 14:14:01"	""	""	"SEQ"	"DNA"	""	""
"0000153411"	"00152554"	"1"	"00006"	"00006"	"2018-02-03 14:17:19"	""	""	"SEQ"	"DNA"	""	""
"0000153412"	"00152555"	"1"	"00006"	"00006"	"2018-02-03 14:21:16"	""	""	"SEQ"	"DNA"	""	""
"0000153413"	"00152556"	"1"	"00006"	"00006"	"2018-02-03 14:24:35"	""	""	"SEQ"	"DNA"	""	""
"0000153414"	"00152557"	"1"	"00006"	"00006"	"2018-02-03 14:28:40"	""	""	"SEQ"	"DNA"	""	""
"0000153415"	"00152558"	"1"	"00006"	"00006"	"2018-02-03 14:31:18"	""	""	"SEQ"	"DNA"	""	""
"0000153416"	"00152559"	"1"	"00006"	"00006"	"2018-02-03 14:34:24"	""	""	"SEQ"	"DNA"	""	""
"0000153417"	"00152560"	"1"	"00006"	"00006"	"2018-02-03 14:37:41"	""	""	"SEQ"	"DNA"	""	""
"0000153418"	"00152561"	"1"	"00006"	"00006"	"2018-02-03 14:41:35"	""	""	"SEQ"	"DNA"	""	""
"0000153419"	"00152562"	"1"	"00006"	"00006"	"2018-02-03 14:44:40"	""	""	"SEQ"	"DNA"	""	""
"0000153420"	"00152563"	"1"	"00006"	"00006"	"2018-02-03 14:55:45"	""	""	"SEQ"	"DNA"	""	""
"0000153421"	"00152564"	"1"	"00006"	"00006"	"2018-02-03 15:25:25"	""	""	"SEQ"	"DNA"	""	""
"0000153422"	"00152565"	"1"	"00006"	"00006"	"2018-02-03 16:01:28"	""	""	"SEQ"	"DNA"	""	""
"0000153423"	"00152566"	"1"	"00006"	"00006"	"2018-02-03 16:05:33"	""	""	"SEQ"	"DNA"	""	""
"0000153424"	"00152567"	"1"	"00006"	"00006"	"2018-02-03 16:25:03"	""	""	"SEQ"	"DNA"	""	""
"0000153425"	"00152568"	"1"	"00006"	"00006"	"2018-02-03 16:55:30"	""	""	"SEQ"	"DNA"	""	""
"0000153426"	"00152569"	"1"	"00006"	"00006"	"2018-02-03 17:05:04"	"00006"	"2018-02-03 17:09:15"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000153427"	"00152570"	"1"	"00006"	"00006"	"2018-02-03 17:14:01"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000153428"	"00152571"	"1"	"00006"	"00006"	"2018-02-03 20:29:58"	""	""	"SEQ"	"DNA"	""	""
"0000153429"	"00152572"	"1"	"00006"	"00006"	"2018-02-03 20:33:23"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000153431"	"00152574"	"1"	"00006"	"00006"	"2018-02-03 21:09:10"	""	""	"SEQ"	"DNA"	""	""
"0000153533"	"00152675"	"1"	"00006"	"00006"	"2018-02-05 21:19:50"	""	""	"SEQ"	"DNA"	""	""
"0000153534"	"00152676"	"1"	"00006"	"00006"	"2018-02-05 21:19:50"	""	""	"SEQ"	"DNA"	""	""
"0000153535"	"00152677"	"1"	"00006"	"00006"	"2018-02-05 21:19:50"	""	""	"SEQ"	"DNA"	""	""
"0000153536"	"00152678"	"1"	"00006"	"00006"	"2018-02-05 21:19:50"	""	""	"SEQ"	"DNA"	""	""
"0000153537"	"00152679"	"1"	"00006"	"00006"	"2018-02-05 21:19:50"	""	""	"SEQ"	"DNA"	""	""
"0000153538"	"00152680"	"1"	"00006"	"00006"	"2018-02-05 21:19:50"	""	""	"SEQ"	"DNA"	""	""
"0000219115"	"00218045"	"1"	"01807"	"01807"	"2019-01-17 11:44:12"	""	""	"SEQ"	"DNA"	""	""
"0000220663"	"00219592"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000220730"	"00219659"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000220752"	"00219681"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000220816"	"00219745"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000220824"	"00219753"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221010"	"00219939"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221091"	"00220020"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221155"	"00220084"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221185"	"00220114"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221456"	"00220385"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221580"	"00220509"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221607"	"00220536"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221611"	"00220540"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221639"	"00220568"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221655"	"00220584"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221699"	"00220628"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221710"	"00220639"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221744"	"00220673"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221760"	"00220689"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221910"	"00220839"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000221943"	"00220872"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222154"	"00221083"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222175"	"00221104"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222204"	"00221133"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222337"	"00221266"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222367"	"00221296"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222378"	"00221307"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222451"	"00221380"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222498"	"00221427"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222506"	"00221435"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222516"	"00221445"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222607"	"00221536"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222629"	"00221558"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222641"	"00221570"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222684"	"00221613"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222754"	"00221683"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222811"	"00221740"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222908"	"00221837"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222911"	"00221840"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222942"	"00221871"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222956"	"00221885"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000222957"	"00221886"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223027"	"00221956"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223028"	"00221957"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223121"	"00222050"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223137"	"00222066"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223153"	"00222082"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223397"	"00222326"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223536"	"00222465"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223604"	"00222533"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223643"	"00222572"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223651"	"00222580"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223717"	"00222646"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223726"	"00222655"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223737"	"00222666"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223763"	"00222692"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000223813"	"00222742"	"1"	"00430"	"00006"	"2019-02-06 14:15:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted gene panel"
"0000232987"	"00231888"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232988"	"00231889"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232989"	"00231890"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232990"	"00231891"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232991"	"00231892"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232992"	"00231893"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232993"	"00231894"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000232994"	"00231895"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000266943"	"00265820"	"1"	"00006"	"00006"	"2019-10-05 18:48:27"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000291037"	"00289869"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291038"	"00289870"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291039"	"00289871"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000297768"	"00296658"	"1"	"00006"	"00006"	"2020-04-09 19:25:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000297769"	"00296659"	"1"	"00006"	"00006"	"2020-04-09 19:35:49"	"00006"	"2020-05-11 11:39:22"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000297789"	"00296679"	"1"	"00006"	"00006"	"2020-04-10 12:42:39"	"00006"	"2020-04-10 12:45:14"	"SEQ;SEQ-NG"	"DNA"	"blood"	"WES NimbleGenSeqCap EZ"
"0000297790"	"00296680"	"1"	"00006"	"00006"	"2020-04-10 13:15:47"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	"WES NimbleGenSeqCap EZ"
"0000304753"	"00303625"	"1"	"00006"	"00006"	"2020-06-17 11:20:32"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000335252"	"00334026"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000360899"	"00359668"	"1"	"00006"	"00006"	"2021-04-03 17:23:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000375642"	"00374448"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000386635"	"00385406"	"1"	"00000"	"03840"	"2021-10-10 19:46:50"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000386636"	"00385407"	"1"	"00000"	"03840"	"2021-10-10 19:46:50"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000389095"	"00387864"	"1"	"00006"	"00006"	"2021-10-31 12:02:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000389532"	"00388291"	"1"	"04186"	"04186"	"2021-11-03 15:38:09"	""	""	"SEQ-NG"	"DNA"	""	""
"0000389757"	"00388515"	"1"	"04186"	"04186"	"2021-11-04 10:39:28"	""	""	"SEQ-NG"	"DNA"	""	""
"0000391300"	"00390059"	"1"	"00006"	"00006"	"2021-11-09 16:34:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000391301"	"00390060"	"1"	"00006"	"00006"	"2021-11-09 16:34:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000391320"	"00390079"	"1"	"00006"	"00006"	"2021-11-09 17:45:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000391787"	"00390546"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391788"	"00390547"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391789"	"00390548"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391790"	"00390549"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391791"	"00390550"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391792"	"00390551"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391793"	"00390552"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391794"	"00390553"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391795"	"00390554"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391796"	"00390555"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391797"	"00390556"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391798"	"00390557"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391799"	"00390558"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391800"	"00390559"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000393786"	"00392540"	"1"	"04186"	"04186"	"2021-11-23 09:36:42"	""	""	"PCR"	"DNA"	""	""
"0000393788"	"00392542"	"1"	"04186"	"04186"	"2021-11-23 09:41:54"	""	""	"PCR"	"DNA"	""	""
"0000395869"	"00394622"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000411520"	"00410256"	"1"	"00000"	"03840"	"2022-05-22 20:24:19"	""	""	"arrayCGH;FISH;SEQ"	"DNA"	"blood"	""
"0000411521"	"00410258"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411522"	"00410259"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411523"	"00410260"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411524"	"00410261"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411525"	"00410262"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411526"	"00410263"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411527"	"00410264"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411528"	"00410265"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411529"	"00410266"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411530"	"00410267"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411531"	"00410268"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411532"	"00410269"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411533"	"00410270"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411534"	"00410271"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411535"	"00410272"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411536"	"00410273"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411537"	"00410274"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411538"	"00410275"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411539"	"00410276"	"1"	"00000"	"03840"	"2022-05-23 11:57:25"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411541"	"00410277"	"1"	"00000"	"03840"	"2022-05-23 12:39:39"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000411542"	"00410278"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411543"	"00410279"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411544"	"00410280"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411545"	"00410281"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411546"	"00410282"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411547"	"00410283"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411548"	"00410284"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411549"	"00410285"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411550"	"00410286"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411551"	"00410287"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411552"	"00410288"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411553"	"00410289"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411554"	"00410290"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411555"	"00410291"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411556"	"00410292"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411557"	"00410293"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411558"	"00410294"	"1"	"00000"	"03840"	"2022-05-23 13:20:58"	""	""	"arraySNP;SEQ-NG"	"DNA"	"blood"	"homozygosity mapping and whole-genome sequencing"
"0000411559"	"00410295"	"1"	"00000"	"03840"	"2022-05-23 14:09:53"	""	""	"?"	"DNA"	""	"retrospective case series"
"0000411560"	"00410296"	"1"	"00000"	"03840"	"2022-05-23 14:09:53"	""	""	"?"	"DNA"	""	"retrospective case series"
"0000411561"	"00410297"	"1"	"00000"	"03840"	"2022-05-23 14:58:28"	""	""	"?"	"DNA"	""	"retrospective case series"
"0000411562"	"00410298"	"1"	"00000"	"03840"	"2022-05-23 15:18:38"	""	""	"SEQ"	"DNA"	"blood"	""
"0000428227"	"00426907"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000431432"	"00430019"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431815"	"00430406"	"1"	"00006"	"00006"	"2023-01-20 11:39:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000434776"	"00433322"	"1"	"00006"	"00006"	"2023-03-04 19:42:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439966"	"00438484"	"1"	"00006"	"00006"	"2023-10-21 14:47:26"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"47-gene panel"
"0000449299"	"00447722"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 241
"{{screeningid}}"	"{{geneid}}"
"0000000061"	"ADA"
"0000000061"	"ATP7B"
"0000000061"	"BTD"
"0000000061"	"ETFB"
"0000000061"	"GLB1"
"0000000061"	"HEXB"
"0000000061"	"HSPG2"
"0000000061"	"MTHFR"
"0000000061"	"POMGNT1"
"0000000061"	"SERPINA1"
"0000000061"	"SMPD1"
"0000000076"	"ATP7B"
"0000000076"	"BCKDHA"
"0000000076"	"FKRP"
"0000000076"	"GAA"
"0000000076"	"GLB1"
"0000000076"	"HSD17B4"
"0000000076"	"IGHMBP2"
"0000000076"	"MEFV"
"0000000076"	"NHLRC1"
"0000000076"	"NPHS1"
"0000000076"	"PMM2"
"0000000076"	"POMGNT1"
"0000000076"	"PPT1"
"0000000076"	"SERPINA1"
"0000000076"	"SLC26A2"
"0000095583"	"POMGNT1"
"0000095584"	"POMGNT1"
"0000095586"	"POMGNT1"
"0000152323"	"FKTN"
"0000152323"	"POMGNT1"
"0000152323"	"POMT1"
"0000152987"	"POMGNT1"
"0000152988"	"POMGNT1"
"0000152989"	"POMGNT1"
"0000152990"	"POMGNT1"
"0000152991"	"POMGNT1"
"0000152992"	"POMGNT1"
"0000152994"	"POMGNT1"
"0000152995"	"POMGNT1"
"0000152996"	"POMGNT1"
"0000152997"	"POMGNT1"
"0000152998"	"POMGNT1"
"0000152999"	"POMGNT1"
"0000153000"	"POMGNT1"
"0000153001"	"POMGNT1"
"0000153002"	"POMGNT1"
"0000153003"	"POMGNT1"
"0000153004"	"POMGNT1"
"0000153005"	"POMGNT1"
"0000153006"	"POMGNT1"
"0000153007"	"POMGNT1"
"0000153008"	"POMGNT1"
"0000153009"	"POMGNT1"
"0000153010"	"POMGNT1"
"0000153011"	"POMGNT1"
"0000153012"	"POMGNT1"
"0000153013"	"POMGNT1"
"0000153014"	"POMGNT1"
"0000153015"	"POMGNT1"
"0000153016"	"POMGNT1"
"0000153017"	"POMGNT1"
"0000153018"	"POMGNT1"
"0000153019"	"POMGNT1"
"0000153020"	"POMGNT1"
"0000153021"	"POMGNT1"
"0000153022"	"POMGNT1"
"0000153023"	"POMGNT1"
"0000153024"	"POMGNT1"
"0000153025"	"POMGNT1"
"0000153026"	"POMGNT1"
"0000153027"	"POMGNT1"
"0000153028"	"POMGNT1"
"0000153029"	"POMGNT1"
"0000153030"	"POMGNT1"
"0000153031"	"POMGNT1"
"0000153032"	"POMGNT1"
"0000153033"	"POMGNT1"
"0000153034"	"POMGNT1"
"0000153035"	"POMGNT1"
"0000153036"	"POMGNT1"
"0000153037"	"POMGNT1"
"0000153038"	"POMGNT1"
"0000153039"	"POMGNT1"
"0000153040"	"POMGNT1"
"0000153041"	"POMGNT1"
"0000153042"	"POMGNT1"
"0000153043"	"POMGNT1"
"0000153044"	"POMGNT1"
"0000153045"	"POMGNT1"
"0000153046"	"POMGNT1"
"0000153047"	"POMGNT1"
"0000153048"	"POMGNT1"
"0000153049"	"POMGNT1"
"0000153050"	"POMGNT1"
"0000153052"	"POMGNT1"
"0000153053"	"POMGNT1"
"0000153054"	"POMGNT1"
"0000153055"	"POMGNT1"
"0000153056"	"POMGNT1"
"0000153057"	"POMGNT1"
"0000153058"	"POMGNT1"
"0000153059"	"POMGNT1"
"0000153060"	"POMGNT1"
"0000153061"	"POMGNT1"
"0000153062"	"POMGNT1"
"0000153063"	"POMGNT1"
"0000153064"	"POMGNT1"
"0000153065"	"POMGNT1"
"0000153066"	"POMGNT1"
"0000153067"	"POMGNT1"
"0000153068"	"POMGNT1"
"0000153069"	"POMGNT1"
"0000153070"	"POMGNT1"
"0000153071"	"POMGNT1"
"0000153072"	"POMGNT1"
"0000153073"	"POMGNT1"
"0000153074"	"POMGNT1"
"0000153075"	"POMGNT1"
"0000153076"	"POMGNT1"
"0000153077"	"POMGNT1"
"0000153078"	"POMGNT1"
"0000153079"	"POMGNT1"
"0000153080"	"POMGNT1"
"0000153081"	"POMGNT1"
"0000153082"	"POMGNT1"
"0000153083"	"POMGNT1"
"0000153084"	"POMGNT1"
"0000153085"	"POMGNT1"
"0000153086"	"POMGNT1"
"0000153087"	"POMGNT1"
"0000153088"	"POMGNT1"
"0000153089"	"POMGNT1"
"0000153090"	"POMGNT1"
"0000153396"	"POMGNT1"
"0000153399"	"POMGNT1"
"0000153400"	"POMGNT1"
"0000153401"	"POMGNT1"
"0000153402"	"POMGNT1"
"0000153403"	"POMGNT1"
"0000153404"	"POMGNT1"
"0000153405"	"POMGNT1"
"0000153406"	"POMGNT1"
"0000153407"	"POMGNT1"
"0000153408"	"POMGNT1"
"0000153409"	"POMGNT1"
"0000153410"	"POMGNT1"
"0000153411"	"POMGNT1"
"0000153412"	"POMGNT1"
"0000153413"	"POMGNT1"
"0000153414"	"POMGNT1"
"0000153415"	"POMGNT1"
"0000153416"	"POMGNT1"
"0000153417"	"POMGNT1"
"0000153418"	"POMGNT1"
"0000153419"	"POMGNT1"
"0000153420"	"POMGNT1"
"0000153421"	"POMGNT1"
"0000153422"	"POMGNT1"
"0000153423"	"POMGNT1"
"0000153424"	"POMGNT1"
"0000153425"	"POMGNT1"
"0000153426"	"POMGNT1"
"0000153427"	"POMGNT1"
"0000153428"	"POMGNT1"
"0000153429"	"POMGNT1"
"0000153431"	"POMGNT1"
"0000153533"	"POMGNT1"
"0000153534"	"POMGNT1"
"0000153535"	"POMGNT1"
"0000153536"	"POMGNT1"
"0000153537"	"POMGNT1"
"0000153538"	"POMGNT1"
"0000232987"	"POMGNT1"
"0000232988"	"POMGNT1"
"0000232989"	"POMGNT1"
"0000232990"	"POMGNT1"
"0000232991"	"POMGNT1"
"0000232992"	"POMGNT1"
"0000232993"	"POMGNT1"
"0000232994"	"POMGNT1"
"0000266943"	"POMGNT1"
"0000297768"	"POMGNT1"
"0000297769"	"POMGNT1"
"0000297789"	"POMGNT1"
"0000297790"	"POMGNT1"
"0000304753"	"POMGNT1"
"0000335252"	"POMGNT1"
"0000360899"	"POMGNT1"
"0000375642"	"POMGNT1"
"0000386635"	"POMGNT1"
"0000386636"	"POMGNT1"
"0000389095"	"POMGNT1"
"0000389757"	"POMGNT1"
"0000393786"	"POMGNT1"
"0000393788"	"POMGNT1"
"0000395869"	"POMGNT1"
"0000411520"	"POMGNT1"
"0000411521"	"POMGNT1"
"0000411522"	"POMGNT1"
"0000411523"	"POMGNT1"
"0000411524"	"POMGNT1"
"0000411525"	"POMGNT1"
"0000411526"	"POMGNT1"
"0000411527"	"POMGNT1"
"0000411528"	"POMGNT1"
"0000411529"	"POMGNT1"
"0000411530"	"POMGNT1"
"0000411531"	"POMGNT1"
"0000411532"	"POMGNT1"
"0000411533"	"POMGNT1"
"0000411534"	"POMGNT1"
"0000411535"	"POMGNT1"
"0000411536"	"POMGNT1"
"0000411537"	"POMGNT1"
"0000411538"	"POMGNT1"
"0000411539"	"POMGNT1"
"0000411541"	"POMGNT1"
"0000411542"	"POMGNT1"
"0000411543"	"POMGNT1"
"0000411544"	"POMGNT1"
"0000411545"	"POMGNT1"
"0000411546"	"POMGNT1"
"0000411547"	"POMGNT1"
"0000411548"	"POMGNT1"
"0000411549"	"POMGNT1"
"0000411550"	"POMGNT1"
"0000411551"	"POMGNT1"
"0000411552"	"POMGNT1"
"0000411553"	"POMGNT1"
"0000411554"	"POMGNT1"
"0000411555"	"POMGNT1"
"0000411556"	"POMGNT1"
"0000411557"	"POMGNT1"
"0000411558"	"POMGNT1"
"0000411559"	"POMGNT1"
"0000411560"	"POMGNT1"
"0000411561"	"POMGNT1"
"0000411562"	"POMGNT1"
"0000428227"	"CNGA3"
"0000431432"	"POMGNT1"


## 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 = 574
"{{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}}"
"0000000129"	"0"	"50"	"1"	"46655645"	"46655645"	"subst"	"0.00991042"	"00002"	"POMGNT1_000035"	"g.46655645C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.46189973C>T"	""	"VUS"	""
"0000000130"	"0"	"50"	"1"	"46655645"	"46655645"	"subst"	"0.00991042"	"00002"	"POMGNT1_000035"	"g.46655645C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.46189973C>T"	""	"VUS"	""
"0000017038"	"0"	"70"	"1"	"46660031"	"46660031"	"subst"	"3.65512E-5"	"00015"	"POMGNT1_000019"	"g.46660031C>T"	""	""	""	"935G>A (R265H)"	"variants c.794G>A (Arg265His) and c.932G>A (Arg311Gln) segregate together, it is unclear which one is (or if both are) causative"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46194359C>T"	""	"likely pathogenic (recessive)"	""
"0000017039"	"0"	"70"	"1"	"46658987"	"46658987"	"subst"	"1.22452E-5"	"00015"	"POMGNT1_000032"	"g.46658987C>T"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46193315C>T"	""	"likely pathogenic (recessive)"	""
"0000017040"	"3"	"70"	"1"	"46658200"	"46658200"	"subst"	"4.06309E-6"	"00015"	"POMGNT1_000012"	"g.46658200C>G"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192528C>G"	""	"likely pathogenic (recessive)"	""
"0000017041"	"0"	"70"	"1"	"46658110"	"46658110"	"subst"	"4.06431E-6"	"00015"	"POMGNT1_000021"	"g.46658110T>C"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192438T>C"	""	"likely pathogenic (recessive)"	""
"0000017043"	"0"	"70"	"1"	"46658069"	"46658069"	"subst"	"0"	"00015"	"POMGNT1_000007"	"g.46658069G>A"	""	""	""	"1465C>T, R442C"	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192397G>A"	""	"likely pathogenic (recessive)"	""
"0000017044"	"0"	"90"	"1"	"46658068"	"46658068"	"subst"	"1.62538E-5"	"00015"	"POMGNT1_000014"	"g.46658068C>T"	""	""	""	"Arg442His"	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192396C>T"	""	"pathogenic (recessive)"	""
"0000017045"	"0"	"70"	"1"	"46658051"	"46658051"	"subst"	"4.06233E-6"	"00015"	"POMGNT1_000060"	"g.46658051C>G"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192379C>G"	""	"likely pathogenic (recessive)"	""
"0000017046"	"0"	"70"	"1"	"46658049"	"46658053"	"del"	"0"	"00015"	"POMGNT1_000053"	"g.46658049_46658053del"	""	""	""	"1350_1354delCTGGG: premTerm461"	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192377_46192381del"	""	"likely pathogenic (recessive)"	""
"0000017047"	"0"	"70"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00015"	"POMGNT1_000022"	"g.46657840C>T"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192168C>T"	""	"likely pathogenic (recessive)"	""
"0000017048"	"0"	"70"	"1"	"46657831"	"46657831"	"subst"	"0"	"00015"	"POMGNT1_000005"	"g.46657831G>C"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192159G>C"	""	"likely pathogenic (recessive)"	""
"0000017049"	"0"	"90"	"1"	"46652588"	"46657586"	"del"	"0"	"00015"	"POMGNT1_000113"	"g.46652588_46657586del"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46186916_46191914del"	""	"pathogenic (recessive)"	""
"0000017050"	"1"	"90"	"1"	"46652537"	"46657509"	"del"	"0"	"00015"	"POMGNT1_000062"	"g.46652537_46657509del"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46186865_46191837del"	""	"pathogenic (recessive)"	""
"0000017051"	"0"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00015"	"POMGNT1_000002"	"g.46657769C>T"	""	""	""	"IVS17+1G>A: Glu514read-through 526Stop/Leu472-His513del"	"Finnish Major/Founder MDDGA3(MEB) variant, causes splice defect, either exon 18 skipping or intron 18 inclusion"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic (recessive)"	""
"0000017052"	"0"	"70"	"1"	"46657769"	"46657769"	"subst"	"0"	"00015"	"POMGNT1_000001"	"g.46657769C>A"	""	""	""	"IVS17+1G>T"	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192097C>A"	""	"likely pathogenic (recessive)"	""
"0000017053"	"0"	"70"	"1"	"46656458"	"46656458"	"subst"	"0"	"00015"	"POMGNT1_000020"	"g.46656458T>C"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46190786T>C"	""	"pathogenic (recessive)"	""
"0000017054"	"0"	"70"	"1"	"46656145"	"46656145"	"subst"	"0"	"00015"	"POMGNT1_000003"	"g.46656145C>T"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46190473C>T"	""	"likely pathogenic (recessive)"	""
"0000017055"	"0"	"70"	"1"	"46655592"	"46655592"	"del"	"0"	"00015"	"POMGNT1_000004"	"g.46655592del"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189920del"	""	"likely pathogenic (recessive)"	""
"0000017056"	"0"	"70"	"1"	"46655573"	"46655573"	"subst"	"8.14764E-6"	"00015"	"POMGNT1_000055"	"g.46655573G>A"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189901G>A"	""	"likely pathogenic (recessive)"	""
"0000017057"	"0"	"70"	"1"	"46655542"	"46655542"	"subst"	"4.0855E-6"	"00015"	"POMGNT1_000023"	"g.46655542C>T"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189870C>T"	""	"likely pathogenic (recessive)"	""
"0000017058"	"0"	"70"	"1"	"46655524"	"46655524"	"subst"	"0"	"00015"	"POMGNT1_000036"	"g.46655524A>C"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189852A>C"	""	"likely pathogenic (recessive)"	""
"0000017059"	"0"	"70"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00015"	"POMGNT1_000031"	"g.46655211C>T"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189539C>T"	""	"likely pathogenic (recessive)"	""
"0000017060"	"0"	"70"	"1"	"46655211"	"46655211"	"subst"	"8.20883E-6"	"00015"	"POMGNT1_000124"	"g.46655211C>G"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189539C>G"	""	"likely pathogenic (recessive)"	""
"0000017062"	"0"	"70"	"1"	"46655153"	"46655153"	"del"	"0"	"00015"	"POMGNT1_000006"	"g.46655153del"	""	""	""	"1876delG"	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189481del"	""	"likely pathogenic (recessive)"	""
"0000017063"	"0"	"70"	"1"	"46655126"	"46655129"	"del"	"0"	"00015"	"POMGNT1_000127"	"g.46655126_46655129del"	""	""	""	"1895+1_4delGTGA"	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189454_46189457del"	""	"likely pathogenic (recessive)"	""
"0000017064"	"0"	"70"	"1"	"46655129"	"46655129"	"subst"	"8.17514E-6"	"00015"	"POMGNT1_000027"	"g.46655129C>T"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189457C>T"	""	"likely pathogenic (recessive)"	""
"0000017065"	"0"	"70"	"1"	"46655129"	"46655129"	"subst"	"8.17514E-5"	"00015"	"POMGNT1_000024"	"g.46655129C>A"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189457C>A"	""	"likely pathogenic (recessive)"	""
"0000017073"	"0"	"70"	"1"	"46660574"	"46660574"	"subst"	"0"	"00015"	"POMGNT1_000137"	"g.46660574G>C"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46194902G>C"	""	"likely pathogenic (recessive)"	""
"0000017074"	"3"	"70"	"1"	"46660532"	"46660532"	"subst"	"3.65586E-5"	"00015"	"POMGNT1_000030"	"g.46660532G>A"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46194860G>A"	""	"likely pathogenic (recessive)"	""
"0000017076"	"1"	"70"	"1"	"46660515"	"46660515"	"subst"	"4.06233E-6"	"00015"	"POMGNT1_000044"	"g.46660515C>T"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46194843C>T"	""	"likely pathogenic (recessive)"	""
"0000017078"	"1"	"70"	"1"	"46660019"	"46660019"	"subst"	"0"	"00015"	"POMGNT1_000048"	"g.46660019C>T"	""	""	""	"900G>A"	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46194347C>T"	""	"likely pathogenic (recessive)"	""
"0000017079"	"0"	"70"	"1"	"46659941"	"46659941"	"subst"	"0"	"00015"	"POMGNT1_000026"	"g.46659941C>T"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46194269C>T"	""	"likely pathogenic (recessive)"	""
"0000017080"	"1"	"70"	"1"	"46659941"	"46659941"	"subst"	"4.06194E-6"	"00015"	"POMGNT1_000025"	"g.46659941C>A"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46194269C>A"	""	"likely pathogenic (recessive)"	""
"0000017081"	"0"	"70"	"1"	"46659546"	"46659546"	"subst"	"0"	"00015"	"POMGNT1_000063"	"g.46659546G>A"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46193874G>A"	""	"likely pathogenic (recessive)"	""
"0000017957"	"0"	"30"	"1"	"46659545"	"46659545"	"subst"	"1.62514E-5"	"00015"	"POMGNT1_000008"	"g.46659545C>T"	""	""	""	"1073G>A (R311Q)"	"variants c.794G>A (Arg265His) and c.932G>A (Arg311Gln) segregate together"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46193873C>T"	""	"likely benign"	""
"0000020877"	"1"	"70"	"1"	"46659252"	"46659252"	"dup"	"0"	"00015"	"POMGNT1_000018"	"g.46659252dup"	""	""	""	"c.1011insT"	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46193580dup"	""	"likely pathogenic (recessive)"	""
"0000020878"	"0"	"70"	"1"	"46658008"	"46658008"	"subst"	"0"	"00015"	"POMGNT1_000152"	"g.46658008A>T"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192336A>T"	""	"likely pathogenic (recessive)"	""
"0000036143"	"0"	"70"	"1"	"46656452"	"46656452"	"del"	"0"	"00015"	"POMGNT1_000198"	"g.46656452del"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46190780del"	""	"likely pathogenic (recessive)"	""
"0000039759"	"3"	"70"	"1"	"46660273"	"46660273"	"subst"	"0"	"00015"	"POMGNT1_000154"	"g.46660273C>G"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46194601C>G"	""	"likely pathogenic (recessive)"	""
"0000039760"	"0"	"70"	"1"	"46655525"	"46655525"	"subst"	"0"	"00015"	"POMGNT1_000155"	"g.46655525C>T"	""	""	""	""	""	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189853C>T"	""	"likely pathogenic (recessive)"	""
"0000154171"	"3"	"90"	"1"	"46655865"	"46657454"	"del"	"0"	"01866"	"POMGNT1_000158"	"g.46655865_46657454del"	""	"{PMID:Fu 2017:28765568}"	""	"g.6668-8257del"	""	"Germline"	""	""	"0"	""	""	"g.46190193_46191782del"	""	"pathogenic"	""
"0000154172"	"11"	"90"	"1"	"46655865"	"46657454"	"del"	"0"	"01866"	"POMGNT1_000158"	"g.46655865_46657454del"	""	"{PMID:Fu 2017:28765568}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46190193_46191782del"	""	"pathogenic"	""
"0000154174"	"11"	"90"	"1"	"46660031"	"46660031"	"subst"	"0"	"01866"	"POMGNT1_000157"	"g.46660031C>G"	""	"{PMID:Fu 2017:28765568}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194359C>G"	""	"pathogenic"	""
"0000245512"	"0"	"10"	"1"	"46658328"	"46658328"	"subst"	"0"	"02330"	"POMGNT1_000169"	"g.46658328A>G"	""	""	""	"POMGNT1(NM_001243766.2):c.1212-66T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192656A>G"	""	"benign"	""
"0000253742"	"0"	"10"	"1"	"46655048"	"46655048"	"subst"	"4.07057E-6"	"01943"	"POMGNT1_000159"	"g.46655048A>G"	""	""	""	"POMGNT1(NM_001243766.2):c.1870-19T>C, POMGNT1(NM_017739.3):c.1896-19T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46189376A>G"	""	"benign"	""
"0000255189"	"0"	"30"	"1"	"46660332"	"46660332"	"subst"	"0"	"01943"	"POMGNT1_000177"	"g.46660332A>G"	""	""	""	"POMGNT1(NM_017739.3):c.653-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46194660A>G"	""	"likely benign"	""
"0000255190"	"0"	"30"	"1"	"46662534"	"46662534"	"subst"	"0.000475138"	"01943"	"POMGNT1_000065"	"g.46662534A>G"	""	""	""	"POMGNT1(NM_017739.3):c.236-13T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46196862A>G"	""	"likely benign"	""
"0000255942"	"0"	"50"	"1"	"46663456"	"46663456"	"subst"	"0.00012589"	"01943"	"POMGNT1_000183"	"g.46663456A>G"	""	""	""	"POMGNT1(NM_001243766.1):c.38T>C (p.F13S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46197784A>G"	""	"VUS"	""
"0000294219"	"0"	"10"	"1"	"46659104"	"46659104"	"subst"	"0.366075"	"02330"	"POMGNT1_000068"	"g.46659104T>C"	""	""	""	"POMGNT1(NM_001243766.2):c.1027-44A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46193432T>C"	""	"benign"	""
"0000294221"	"0"	"30"	"1"	"46663361"	"46663361"	"subst"	"0.00461071"	"02330"	"POMGNT1_000182"	"g.46663361G>A"	""	""	""	"POMGNT1(NM_001243766.1):c.120+13C>T (p.(=)), POMGNT1(NM_001243766.2):c.120+13C>T, POMGNT1(NM_017739.3):c.120+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46197689G>A"	""	"likely benign"	""
"0000294222"	"0"	"10"	"1"	"46658217"	"46658217"	"subst"	"0.00895303"	"02330"	"POMGNT1_000168"	"g.46658217C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1257G>A (p.(Leu419=)), POMGNT1(NM_001243766.2):c.1257G>A (p.L419=), POMGNT1(NM_017739.3):c.1257G>A (p.L419=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192545C>T"	""	"benign"	""
"0000294223"	"0"	"10"	"1"	"46655158"	"46655158"	"subst"	"0.987196"	"02330"	"POMGNT1_000160"	"g.46655158T>C"	""	""	""	"POMGNT1(NM_001243766.2):c.1867A>G (p.M623V), POMGNT1(NM_017739.3):c.1867A>G (p.M623V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"benign"	""
"0000294224"	"0"	"10"	"1"	"46660295"	"46660295"	"subst"	"0.356255"	"02330"	"POMGNT1_000045"	"g.46660295T>C"	""	""	""	"POMGNT1(NM_001243766.2):c.681A>G (p.K227=), POMGNT1(NM_017739.3):c.681A>G (p.K227=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46194623T>C"	""	"benign"	""
"0000297254"	"0"	"90"	"1"	"46658069"	"46658069"	"subst"	"0"	"02325"	"POMGNT1_000007"	"g.46658069G>A"	""	""	""	"POMGNT1(NM_001243766.2):c.1324C>T (p.R442C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192397G>A"	""	"pathogenic"	""
"0000297255"	"0"	"90"	"1"	"46657979"	"46657979"	"subst"	"4.06081E-6"	"02325"	"POMGNT1_000165"	"g.46657979C>T"	""	""	""	"POMGNT1(NM_001243766.2):c.1413+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192307C>T"	""	"pathogenic"	""
"0000297256"	"0"	"90"	"1"	"46657979"	"46657979"	"subst"	"0"	"02325"	"POMGNT1_000166"	"g.46657979C>A"	""	""	""	"POMGNT1(NM_001243766.2):c.1413+1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192307C>A"	""	"pathogenic"	""
"0000297257"	"0"	"70"	"1"	"46657884"	"46657884"	"subst"	"0"	"02325"	"POMGNT1_000034"	"g.46657884C>T"	""	""	""	"POMGNT1(NM_001243766.2):c.1425G>A (p.W475*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192212C>T"	""	"likely pathogenic"	""
"0000297258"	"0"	"90"	"1"	"46656145"	"46656145"	"subst"	"0"	"02325"	"POMGNT1_000003"	"g.46656145C>T"	""	""	""	"POMGNT1(NM_001243766.2):c.1649G>A (p.S550N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46190473C>T"	""	"pathogenic"	""
"0000297259"	"0"	"70"	"1"	"46655592"	"46655592"	"del"	"0"	"02325"	"POMGNT1_000004"	"g.46655592del"	""	""	""	"POMGNT1(NM_001243766.2):c.1719delC (p.H573Qfs*50)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46189920del"	""	"likely pathogenic"	""
"0000297260"	"0"	"10"	"1"	"46655158"	"46655158"	"subst"	"0.987196"	"02325"	"POMGNT1_000160"	"g.46655158T>C"	""	""	""	"POMGNT1(NM_001243766.2):c.1867A>G (p.M623V), POMGNT1(NM_017739.3):c.1867A>G (p.M623V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"benign"	""
"0000297261"	"0"	"90"	"1"	"46662690"	"46662690"	"subst"	"0"	"02325"	"POMGNT1_000009"	"g.46662690G>A"	""	""	""	"POMGNT1(NM_001243766.2):c.187C>T (p.R63*), POMGNT1(NM_017739.3):c.187C>T (p.R63*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46197018G>A"	""	"pathogenic"	""
"0000297262"	"0"	"10"	"1"	"46660295"	"46660295"	"subst"	"0.356255"	"02325"	"POMGNT1_000045"	"g.46660295T>C"	""	""	""	"POMGNT1(NM_001243766.2):c.681A>G (p.K227=), POMGNT1(NM_017739.3):c.681A>G (p.K227=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46194623T>C"	""	"benign"	""
"0000297263"	"0"	"70"	"1"	"46659941"	"46659941"	"subst"	"4.06194E-6"	"02325"	"POMGNT1_000025"	"g.46659941C>A"	""	""	""	"POMGNT1(NM_001243766.2):c.879+5G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46194269C>A"	""	"likely pathogenic"	""
"0000297264"	"0"	"90"	"1"	"46659545"	"46659545"	"subst"	"1.62514E-5"	"02325"	"POMGNT1_000008"	"g.46659545C>T"	""	""	""	"POMGNT1(NM_001243766.2):c.932G>A (p.R311Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46193873C>T"	""	"pathogenic"	""
"0000299059"	"0"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"02329"	"POMGNT1_000002"	"g.46657769C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1539+1G>A, POMGNT1(NM_001243766.2):c.1539+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000301138"	"0"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"02326"	"POMGNT1_000002"	"g.46657769C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1539+1G>A, POMGNT1(NM_001243766.2):c.1539+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000306146"	"0"	"10"	"1"	"46658910"	"46658910"	"subst"	"0.0669313"	"01943"	"POMGNT1_000033"	"g.46658910G>A"	""	""	""	"POMGNT1(NM_017739.3):c.1111-23C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46193238G>A"	""	"benign"	""
"0000306147"	"0"	"30"	"1"	"46658896"	"46658896"	"subst"	"0.000174733"	"01943"	"POMGNT1_000170"	"g.46658896G>A"	""	""	""	"POMGNT1(NM_001243766.1):c.1111-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46193224G>A"	""	"likely benign"	""
"0000306148"	"0"	"30"	"1"	"46663361"	"46663361"	"subst"	"0.00461071"	"01943"	"POMGNT1_000182"	"g.46663361G>A"	""	""	""	"POMGNT1(NM_001243766.1):c.120+13C>T (p.(=)), POMGNT1(NM_001243766.2):c.120+13C>T, POMGNT1(NM_017739.3):c.120+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46197689G>A"	""	"likely benign"	""
"0000306149"	"0"	"10"	"1"	"46658217"	"46658217"	"subst"	"0.00895303"	"01943"	"POMGNT1_000168"	"g.46658217C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1257G>A (p.(Leu419=)), POMGNT1(NM_001243766.2):c.1257G>A (p.L419=), POMGNT1(NM_017739.3):c.1257G>A (p.L419=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192545C>T"	""	"benign"	""
"0000306150"	"0"	"30"	"1"	"46657986"	"46657986"	"subst"	"2.84257E-5"	"01943"	"POMGNT1_000167"	"g.46657986C>T"	""	""	""	"POMGNT1(NM_017739.3):c.1407G>A (p.P469=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192314C>T"	""	"likely benign"	""
"0000306151"	"0"	"50"	"1"	"46657853"	"46657853"	"subst"	"8.1211E-6"	"01943"	"POMGNT1_000163"	"g.46657853G>C"	""	""	""	"POMGNT1(NM_017739.3):c.1456C>G (p.R486G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192181G>C"	""	"VUS"	""
"0000306152"	"0"	"50"	"1"	"46657826"	"46657826"	"subst"	"0"	"01943"	"POMGNT1_000162"	"g.46657826C>G"	""	""	""	"POMGNT1(NM_017739.3):c.1483G>C (p.V495L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192154C>G"	""	"VUS"	""
"0000306153"	"0"	"10"	"1"	"46655158"	"46655158"	"subst"	"0.987196"	"01943"	"POMGNT1_000160"	"g.46655158T>C"	""	""	""	"POMGNT1(NM_001243766.2):c.1867A>G (p.M623V), POMGNT1(NM_017739.3):c.1867A>G (p.M623V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"benign"	""
"0000306154"	"0"	"70"	"1"	"46662690"	"46662690"	"subst"	"0"	"01943"	"POMGNT1_000009"	"g.46662690G>A"	""	""	""	"POMGNT1(NM_001243766.2):c.187C>T (p.R63*), POMGNT1(NM_017739.3):c.187C>T (p.R63*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46197018G>A"	""	"likely pathogenic"	""
"0000306155"	"0"	"10"	"1"	"46662537"	"46662537"	"subst"	"0"	"01943"	"POMGNT1_000180"	"g.46662537G>C"	""	""	""	"POMGNT1(NM_017739.3):c.236-16C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46196865G>C"	""	"benign"	""
"0000306156"	"0"	"10"	"1"	"46660295"	"46660295"	"subst"	"0.356255"	"01943"	"POMGNT1_000045"	"g.46660295T>C"	""	""	""	"POMGNT1(NM_001243766.2):c.681A>G (p.K227=), POMGNT1(NM_017739.3):c.681A>G (p.K227=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46194623T>C"	""	"benign"	""
"0000306157"	"0"	"90"	"1"	"46659598"	"46659598"	"subst"	"4.06408E-6"	"01943"	"POMGNT1_000175"	"g.46659598C>G"	""	""	""	"POMGNT1(NM_017739.3):c.880-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46193926C>G"	""	"pathogenic"	""
"0000306158"	"0"	"30"	"1"	"46659524"	"46659524"	"subst"	"0"	"01943"	"POMGNT1_000174"	"g.46659524T>C"	""	""	""	"POMGNT1(NM_017739.3):c.950+3A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46193852T>C"	""	"likely benign"	""
"0000320807"	"0"	"30"	"1"	"46655645"	"46655645"	"subst"	"0.00991042"	"01804"	"POMGNT1_000035"	"g.46655645C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1666G>A (p.(Asp556Asn), p.D556N), POMGNT1(NM_001243766.2):c.1666G>A (p.D556N), POMGNT1(NM_017739.3):c.1666G>A (p.D556N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46189973C>T"	""	"likely benign"	""
"0000320810"	"0"	"50"	"1"	"46685735"	"46685735"	"subst"	"0"	"01804"	"LURAP1_000002"	"g.46685735C>T"	""	""	""	"LURAP1(NM_001013615.2):c.563C>T (p.(Ala188Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46220063C>T"	""	"VUS"	""
"0000338143"	"0"	"30"	"1"	"46656475"	"46656475"	"subst"	"0"	"02327"	"POMGNT1_000185"	"g.46656475T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46190803T>G"	""	"likely benign"	""
"0000338144"	"0"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"02327"	"POMGNT1_000002"	"g.46657769C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1539+1G>A, POMGNT1(NM_001243766.2):c.1539+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000338145"	"0"	"90"	"1"	"46659598"	"46659598"	"subst"	"4.06408E-6"	"02327"	"POMGNT1_000175"	"g.46659598C>G"	""	""	""	"POMGNT1(NM_017739.3):c.880-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46193926C>G"	""	"pathogenic"	""
"0000340872"	"0"	"10"	"1"	"46660295"	"46660295"	"subst"	"0.356255"	"02327"	"POMGNT1_000045"	"g.46660295T>C"	""	""	""	"POMGNT1(NM_001243766.2):c.681A>G (p.K227=), POMGNT1(NM_017739.3):c.681A>G (p.K227=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46194623T>C"	""	"benign"	""
"0000342067"	"0"	"50"	"1"	"46661505"	"46661505"	"subst"	"0"	"02327"	"POMGNT1_000191"	"g.46661505C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46195833C>A"	""	"VUS"	""
"0000342906"	"0"	"90"	"1"	"46658068"	"46658068"	"subst"	"1.62538E-5"	"02327"	"POMGNT1_000014"	"g.46658068C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192396C>T"	""	"pathogenic"	""
"0000342990"	"0"	"90"	"1"	"46657847"	"46657847"	"subst"	"4.06062E-6"	"02327"	"POMGNT1_000186"	"g.46657847G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192175G>A"	""	"pathogenic"	""
"0000344086"	"0"	"70"	"1"	"46658581"	"46658581"	"subst"	"0"	"02327"	"POMGNT1_000189"	"g.46658581T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192909T>A"	""	"likely pathogenic"	""
"0000346126"	"0"	"70"	"1"	"46657796"	"46657796"	"subst"	"1.21832E-5"	"02327"	"POMGNT1_000149"	"g.46657796C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192124C>T"	""	"likely pathogenic"	""
"0000347767"	"0"	"90"	"1"	"46663493"	"46663493"	"subst"	"0"	"02327"	"POMGNT1_000193"	"g.46663493T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46197821T>A"	""	"pathogenic"	""
"0000347847"	"0"	"90"	"1"	"46657879"	"46657880"	"del"	"0"	"02327"	"POMGNT1_000187"	"g.46657879_46657880del"	""	""	""	"POMGNT1(NM_001243766.1):c.1429_1430delAT (p.M477Vfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46192207_46192208del"	""	"pathogenic"	""
"0000348364"	"0"	"70"	"1"	"46659569"	"46659569"	"subst"	"8.12427E-6"	"02327"	"POMGNT1_000054"	"g.46659569G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46193897G>A"	""	"likely pathogenic"	""
"0000350231"	"0"	"30"	"1"	"46662456"	"46662456"	"subst"	"0.00313926"	"02327"	"POMGNT1_000192"	"g.46662456C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.301G>A (p.V101I), POMGNT1(NM_001243766.2):c.301G>A (p.V101I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.46196784C>T"	""	"likely benign"	""
"0000351826"	"1"	"90"	"1"	"46659252"	"46659252"	"dup"	"0"	"00006"	"POMGNT1_000018"	"g.46659252dup"	""	"{PMID:Taniguchi 2003:12588800}"	""	"1011dupT"	""	"Germline"	""	""	"0"	""	""	"g.46193580dup"	""	"pathogenic"	""
"0000351827"	"1"	"90"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00006"	"POMGNT1_000022"	"g.46657840C>T"	""	"{PMID:Diesen 2004:15466003}"	""	""	"not in 250 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46192168C>T"	""	"pathogenic"	""
"0000351828"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Diesen 2004:15466003}, {OMIM606822:0002}"	"PmlI"	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351829"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Diesen 2004:15466003}, {OMIM606822:0002}"	"PmlI"	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351830"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Zhang 2003:12849864}"	"PmlI"	""	"unknown variant 2nd allele"	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351831"	"3"	"90"	"1"	"46659252"	"46659252"	"dup"	"0"	"00006"	"POMGNT1_000018"	"g.46659252dup"	""	"{PMID:Matsumoto 2005:15833426}"	""	"1106insT"	""	"Germline"	""	""	"0"	""	""	"g.46193580dup"	""	"pathogenic"	""
"0000351832"	"2"	"90"	"1"	"46659252"	"46659252"	"dup"	"0"	"00006"	"POMGNT1_000018"	"g.46659252dup"	""	"{PMID:Matsumoto 2005:15833426}"	""	"1011dupT"	""	"Germline"	""	""	"0"	""	""	"g.46193580dup"	""	"pathogenic"	""
"0000351835"	"3"	"90"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00006"	"POMGNT1_000022"	"g.46657840C>T"	""	"{PMID:Diesen 2004:15466003}"	""	""	"not in 250 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46192168C>T"	""	"pathogenic"	""
"0000351837"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Yoshida 2001:11709191}, {PMID:Manya 2008:17869517}, {OMIM606822:0002}"	"PmlI"	""	"not in 246 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351839"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Diesen 2004:15466003}, {OMIM606822:0002}"	"PmlI"	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351841"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Diesen 2004:15466003}, {OMIM606822:0002}"	"PmlI"	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351843"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Diesen 2004:15466003}, {OMIM606822:0002}"	"PmlI"	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351845"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Diesen 2004:15466003}, {OMIM606822:0002}"	"PmlI"	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351847"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Vajsar 2006:16427280}"	"PmlI"	""	""	"Germline"	"yes"	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351849"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Vajsar 2006:16427280}"	"PmlI"	""	""	"Germline"	"yes"	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351851"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Zhang 2003:12849864}"	"PmlI"	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351852"	"2"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Zhang 2003:12849864}"	"PmlI"	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351853"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0"	"00006"	"POMGNT1_000001"	"g.46657769C>A"	""	"{PMID:Yoshida 2001:11709191}, {OMIM606822:0001}"	""	""	"not in 246 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46192097C>A"	""	"pathogenic"	""
"0000351855"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0"	"00006"	"POMGNT1_000001"	"g.46657769C>A"	""	"{PMID:Yoshida 2001:11709191}, {OMIM606822:0001}"	""	""	"not in 246 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46192097C>A"	""	"pathogenic"	""
"0000351857"	"3"	"97"	"1"	"46656458"	"46656458"	"subst"	"0"	"00006"	"POMGNT1_000020"	"g.46656458T>C"	""	"{PMID:Haliloglu 2004:15938569}, {PMID:Hehr 2007:17906881}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46190786T>C"	""	"pathogenic"	""
"0000351859"	"3"	"90"	"1"	"46656145"	"46656145"	"subst"	"0"	"00006"	"POMGNT1_000003"	"g.46656145C>T"	""	"{PMID:Yoshida 2001:11709191}, {PMID:Taniguchi 2003:12588800}, {PMID:Zhang 2003:12849864}, {PMID:Manya 2003:12788071}, {OMIM606822:0003}"	""	"1743G>A"	"not in 246 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46190473C>T"	""	"pathogenic"	""
"0000351861"	"3"	"90"	"1"	"46655592"	"46655592"	"del"	"0"	"00006"	"POMGNT1_000004"	"g.46655592del"	""	"{PMID:Yoshida 2001:11709191}, {PMID:Manya 2003:12788071}, {OMIM606822:0004}"	""	"1813delC"	"not in 246 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46189920del"	""	"pathogenic"	""
"0000351863"	"1"	"90"	"1"	"46662690"	"46662690"	"subst"	"0"	"00006"	"POMGNT1_000009"	"g.46662690G>A"	""	"{PMID:Taniguchi 2003:12588800}, {OMIM606822:0009}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46197018G>A"	""	"pathogenic"	""
"0000351864"	"2"	"90"	"1"	"46662690"	"46662690"	"subst"	"0"	"00006"	"POMGNT1_000009"	"g.46662690G>A"	""	"{PMID:Taniguchi 2003:12588800}, {OMIM606822:0009}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46197018G>A"	""	"pathogenic"	""
"0000351865"	"1"	"90"	"1"	"46657831"	"46657831"	"subst"	"0"	"00006"	"POMGNT1_000005"	"g.46657831G>C"	""	"{PMID:Yoshida 2001:11709191}, {PMID:Zhang 2003:12849864}, {PMID:Manya 2003:12788071}, {OMIM606822:0005}"	""	"1572C>G"	"not in 246 control chromosomes"	"Germline"	""	"rs28942068"	"0"	""	""	"g.46192159G>C"	""	"pathogenic"	""
"0000351866"	"2"	"90"	"1"	"46655153"	"46655153"	"del"	"0"	"00006"	"POMGNT1_000006"	"g.46655153del"	""	"{PMID:Yoshida 2001:11709191}, {PMID:Zhang 2003:12849864}, {PMID:Manya 2003:12788071}, {OMIM606822:0006}"	""	"NM_017739.3:1876delG (Val626Serfs*8)"	"not in 246 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46189481del"	""	"pathogenic"	""
"0000351867"	"21"	"30"	"1"	"46660031"	"46660031"	"subst"	"3.65512E-5"	"00006"	"POMGNT1_000019"	"g.46660031C>T"	""	"{PMID:Vervoort 2004:15236414}, {PMID:Vajsar 2006:16427280}"	""	""	"not in 500 normal chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.46194359C>T"	""	"likely benign"	""
"0000351868"	"21"	"90"	"1"	"46659545"	"46659545"	"subst"	"1.62514E-5"	"00006"	"POMGNT1_000008"	"g.46659545C>T"	""	"{PMID:Vervoort 2004:15236414}, {PMID:Vajsar 2006:16427280}, {OMIM606822:0008}"	"NgoMN-"	""	"not in 500 normal chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.46193873C>T"	""	"pathogenic"	""
"0000351869"	"11"	"90"	"1"	"46658069"	"46658069"	"subst"	"0"	"00006"	"POMGNT1_000007"	"g.46658069G>A"	""	"{PMID:Vervoort 2004:15236414}, {PMID:Vajsar 2006:16427280}, {OMIM606822:0007}"	""	""	"not in 500 normal chromosomes"	"Germline"	"yes"	"rs28940869"	"0"	""	""	"g.46192397G>A"	""	"pathogenic"	""
"0000351870"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Taniguchi 2003:12588800}, {PMID:Manya 2003:12788071}, {OMIM606822:0002}"	"PmlI"	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351871"	"2"	"90"	"1"	"46655193"	"46655193"	"del"	"0"	"00006"	"POMGNT1_000011"	"g.46655193del"	""	"{PMID:Taniguchi 2003:12588800}, {PMID:Manya 2003:12788071}, {OMIM606822:0011}"	""	"1832delT"	""	"Germline"	""	""	"0"	""	""	"g.46189521del"	""	"pathogenic"	""
"0000351872"	"1"	"90"	"1"	"46658200"	"46658200"	"subst"	"4.06309E-6"	"00006"	"POMGNT1_000012"	"g.46658200C>G"	""	"{PMID:Diesen 2004:15466003}, {PMID:Pascual-Castroviejo:15954036}"	"TaqI+"	""	"not in 250 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46192528C>G"	""	"pathogenic (recessive)"	""
"0000351873"	"2"	"90"	"1"	"46655126"	"46655129"	"del"	"0"	"00006"	"POMGNT1_000013"	"g.46655126_46655129del"	""	"{PMID:Diesen 2004:15466003}, {PMID:Pascual-Castroviejo:15954036}"	""	"1895+5_1895+8del"	"not in 250 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46189454_46189457del"	""	"pathogenic (recessive)"	""
"0000351874"	"1"	"90"	"1"	"46661572"	"46661572"	"del"	"0"	"00006"	"POMGNT1_000015"	"g.46661572del"	""	"{PMID:Taniguchi 2003:12588800}, {PMID:Manya 2003:12788071}"	""	"447delT"	""	"Germline"	""	""	"0"	""	""	"g.46195900del"	""	"pathogenic"	""
"0000351875"	"2"	"90"	"1"	"46660309"	"46660309"	"subst"	"0"	"00006"	"POMGNT1_000016"	"g.46660309C>T"	""	"{PMID:Taniguchi 2003:12588800}, {PMID:Manya 2003:12788071}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194637C>T"	""	"pathogenic"	""
"0000351876"	"1"	"90"	"1"	"46660019"	"46660019"	"subst"	"0"	"00006"	"POMGNT1_000048"	"g.46660019C>T"	""	"{PMID:Taniguchi 2003:12588800}, {PMID:Manya 2003:12788071}, {PMID:Matsumoto 2005:15833426}"	""	"900G>A"	""	"Germline"	""	""	"0"	""	""	"g.46194347C>T"	""	"pathogenic"	""
"0000351877"	"2"	"90"	"1"	"46659284"	"46659284"	"dup"	"0"	"00006"	"POMGNT1_000017"	"g.46659284dup"	""	"{PMID:Taniguchi 2003:12588800}, {PMID:Manya 2003:12788071}, {PMID:Matsumoto 2005:15833426}"	""	"1077insG"	""	"Germline"	""	""	"0"	""	""	"g.46193612dup"	""	"pathogenic"	""
"0000351878"	"2"	"90"	"1"	"46660309"	"46660309"	"subst"	"0"	"00006"	"POMGNT1_000016"	"g.46660309C>T"	""	"{PMID:Taniguchi 2003:12588800}, {PMID:Manya 2003:12788071}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194637C>T"	""	"pathogenic"	""
"0000351879"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Taniguchi 2003:12588800}, {PMID:Manya 2003:12788071}, {OMIM606822:0002}"	"PmlI"	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351880"	"1"	"90"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00006"	"POMGNT1_000022"	"g.46657840C>T"	""	"{PMID:Diesen 2004:15466003}"	""	""	"not in 250 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46192168C>T"	""	"pathogenic"	""
"0000351881"	"2"	"90"	"1"	"46655542"	"46655542"	"subst"	"4.0855E-6"	"00006"	"POMGNT1_000023"	"g.46655542C>T"	""	"{PMID:Diesen 2004:15466003}"	"AvaII-"	""	"not in 250 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46189870C>T"	""	"pathogenic"	""
"0000351882"	"2"	"90"	"1"	"46659941"	"46659941"	"subst"	"0"	"00006"	"POMGNT1_000026"	"g.46659941C>T"	""	"{PMID:Diesen 2004:15466003}"	""	""	"not in 150 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46194269C>T"	""	"pathogenic"	""
"0000351883"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Diesen 2004:15466003}, {OMIM606822:0002}"	"PmlI"	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351884"	"2"	"90"	"1"	"46659941"	"46659941"	"subst"	"4.06194E-6"	"00006"	"POMGNT1_000025"	"g.46659941C>A"	""	"{PMID:Diesen 2004:15466003}"	""	""	"not in 150 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46194269C>A"	""	"pathogenic"	""
"0000351885"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Diesen 2004:15466003}, {OMIM606822:0002}"	"PmlI"	""	"founder haplotype"	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351886"	"2"	"90"	"1"	"46655129"	"46655129"	"subst"	"8.17514E-5"	"00006"	"POMGNT1_000024"	"g.46655129C>A"	""	"{PMID:Diesen 2004:15466003}"	""	"NM_017739.3:1895+1G>T"	"not in 250 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46189457C>A"	""	"pathogenic"	""
"0000351887"	"1"	"90"	"1"	"46655129"	"46655129"	"subst"	"8.17514E-6"	"00006"	"POMGNT1_000027"	"g.46655129C>T"	""	"{PMID:Diesen 2004:15466003}"	""	"NM_017739.3:1895+1G>A"	"not in 250 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46189457C>T"	""	"pathogenic"	""
"0000351888"	"2"	"90"	"1"	"46661572"	"46661572"	"dup"	"0"	"00006"	"POMGNT1_000028"	"g.46661572dup"	""	"{PMID:Longman 2004:15313851}"	""	"447dupT"	"not in 188 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46195900dup"	""	"pathogenic"	""
"0000351889"	"1"	"90"	"1"	"46658195"	"46658195"	"subst"	"0"	"00006"	"POMGNT1_000029"	"g.46658195C>G"	""	"{PMID:Longman 2004:15313851}"	""	""	"not in 188 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46192523C>G"	""	"pathogenic"	""
"0000351890"	"1"	"90"	"1"	"46659252"	"46659252"	"dup"	"0"	"00006"	"POMGNT1_000018"	"g.46659252dup"	""	"{PMID:Zhang 2003:12849864}, {PMID:Vajsar 2006:16427280}"	""	"1106insT"	"muscle extract POMGnT1 to GnT1 ratio 0.02"	"Germline"	""	""	"0"	""	""	"g.46193580dup"	""	"pathogenic"	""
"0000351891"	"2"	"90"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00006"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Zhang 2003:12849864}, {PMID:Vajsar 2006:16427280}"	""	"G1908A"	""	"Germline"	"yes"	""	"0"	""	""	"g.46189539C>T"	""	"pathogenic"	""
"0000351892"	"1"	"90"	"1"	"46658110"	"46658110"	"subst"	"4.06431E-6"	"00006"	"POMGNT1_000021"	"g.46658110T>C"	""	"{PMID:Diesen 2004:15466003}"	"SmaI+"	""	"not in 250 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46192438T>C"	""	"pathogenic"	""
"0000351893"	"1"	"10"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	"3/308"	"{PMID:Diesen 2004:15466003}, {OMIM606822:0002}"	"PmlI"	""	"found in 3/308 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"benign"	""
"0000351894"	"1"	"90"	"1"	"46658987"	"46658987"	"subst"	"1.22452E-5"	"00006"	"POMGNT1_000032"	"g.46658987C>T"	""	"{PMID:Godfrey 2007:17878207}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193315C>T"	""	"pathogenic"	""
"0000351895"	"2"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Godfrey 2007:17878207}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351896"	"0"	"10"	"1"	"46658910"	"46658910"	"subst"	"0.0669313"	"00006"	"POMGNT1_000033"	"g.46658910G>A"	""	"{PMID:Godfrey 2007:17878207}"	""	""	"other pathogenic change in several patients"	"Germline"	""	""	"0"	""	""	"g.46193238G>A"	""	"benign"	""
"0000351897"	"1"	"90"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00006"	"POMGNT1_000022"	"g.46657840C>T"	""	"{PMID:Godfrey 2007:17878207}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192168C>T"	""	"pathogenic"	""
"0000351898"	"2"	"90"	"1"	"46660515"	"46660515"	"subst"	"4.06233E-6"	"00006"	"POMGNT1_000044"	"g.46660515C>T"	""	"{PMID:Godfrey 2007:17878207}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194843C>T"	""	"pathogenic"	""
"0000351899"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Godfrey 2007:17878207}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351901"	"3"	"90"	"1"	"46657884"	"46657884"	"subst"	"0"	"00006"	"POMGNT1_000034"	"g.46657884C>T"	""	"{PMID:Godfrey 2007:17878207}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192212C>T"	""	"pathogenic"	""
"0000351903"	"3"	"90"	"1"	"46655645"	"46655645"	"subst"	"0.00991042"	"00006"	"POMGNT1_000035"	"g.46655645C>T"	""	"{PMID:Godfrey 2007:17878207}, {PMID:Clement 2008:19067344}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189973C>T"	""	"pathogenic"	""
"0000351905"	"3"	"90"	"1"	"46655524"	"46655524"	"subst"	"0"	"00006"	"POMGNT1_000036"	"g.46655524A>C"	""	"{PMID:Godfrey 2007:17878207}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189852A>C"	""	"pathogenic"	""
"0000351907"	"0"	"10"	"1"	"46655495"	"46655495"	"subst"	"0.0311666"	"00006"	"POMGNT1_000037"	"g.46655495G>T"	""	"{PMID:Godfrey 2007:17878207}"	""	""	"found in one patient"	"Germline"	""	""	"0"	""	""	"g.46189823G>T"	""	"benign"	""
"0000351908"	"1"	"50"	"1"	"46655158"	"46655158"	"subst"	"0"	"00006"	"POMGNT1_000038"	"g.46655158C>T"	""	"{PMID:Godfrey 2007:17878207}"	""	""	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	"rs6659553"	"0"	""	""	""	""	"VUS"	""
"0000351909"	"1"	"50"	"1"	"46655158"	"46655158"	"subst"	"0"	"00006"	"POMGNT1_000038"	"g.46655158C>T"	""	"{PMID:Godfrey 2007:17878207}"	""	""	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	"rs6659553"	"0"	""	""	""	""	"VUS"	""
"0000351910"	"1"	"50"	"1"	"46655158"	"46655158"	"subst"	"0"	"00006"	"POMGNT1_000038"	"g.46655158C>T"	""	"{PMID:Godfrey 2007:17878207}"	""	""	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	"rs6659553"	"0"	""	""	""	""	"VUS"	""
"0000351911"	"0"	"10"	"1"	"46655100"	"46655100"	"subst"	"0.035222"	"00006"	"POMGNT1_000039"	"g.46655100T>C"	""	"{PMID:Godfrey 2007:17878207}"	""	"NM_017739.3:1895+30G>A"	"found in one patient"	"Germline"	""	""	"0"	""	""	"g.46189428T>C"	""	"benign"	""
"0000351912"	"0"	"10"	"1"	"46663504"	"46663504"	"subst"	"0.0043204"	"00006"	"POMGNT1_000040"	"g.46663504C>T"	""	"{PMID:Godfrey 2007:17878207}"	""	""	"other pathogenic change in one patient"	"Germline"	""	""	"0"	""	""	"g.46197832C>T"	""	"benign"	""
"0000351913"	"0"	"10"	"1"	"46662609"	"46662609"	"subst"	"0.0292085"	"00006"	"POMGNT1_000041"	"g.46662609A>C"	""	"{PMID:Godfrey 2007:17878207}"	""	""	"found in several patients"	"Germline"	""	""	"0"	""	""	"g.46196937A>C"	""	"benign"	""
"0000351914"	"0"	"10"	"1"	"46661776"	"46661776"	"subst"	"0.0292094"	"00006"	"POMGNT1_000042"	"g.46661776G>A"	""	"{PMID:Godfrey 2007:17878207}"	""	""	"found in one patient"	"Germline"	""	""	"0"	""	""	"g.46196104G>A"	""	"benign"	""
"0000351915"	"3"	"90"	"1"	"46661491"	"46661491"	"subst"	"4.58014E-6"	"00006"	"POMGNT1_000043"	"g.46661491T>G"	""	"{PMID:Godfrey 2007:17878207}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46195819T>G"	""	"pathogenic"	""
"0000351917"	"0"	"10"	"1"	"46660295"	"46660295"	"subst"	"0.356255"	"00006"	"POMGNT1_000045"	"g.46660295T>C"	""	"{PMID:Godfrey 2007:17878207}"	""	""	"other pathogenic change in several patients"	"Germline"	""	"rs2292487"	"0"	""	""	"g.46194623T>C"	""	"benign"	""
"0000351918"	"1"	"10"	"1"	"46658068"	"46658068"	"subst"	"1.62538E-5"	"00006"	"POMGNT1_000014"	"g.46658068C>T"	""	"{PMID:Manya 2008:17869517}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192396C>T"	""	"benign"	""
"0000351919"	"2"	"10"	"1"	"46658068"	"46658068"	"subst"	"1.62538E-5"	"00006"	"POMGNT1_000014"	"g.46658068C>T"	""	"{PMID:Manya 2008:17869517}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192396C>T"	""	"benign"	""
"0000351920"	"1"	"10"	"1"	"46661559"	"46661559"	"subst"	"0"	"00006"	"POMGNT1_000046"	"g.46661559G>C"	""	"{PMID:Manya 2008:17869517}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46195887G>C"	""	"benign"	""
"0000351921"	"2"	"10"	"1"	"46660019"	"46660021"	"del"	"0"	"00006"	"POMGNT1_000047"	"g.46660019_46660021del"	""	"{PMID:Manya 2008:17869517}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194347_46194349del"	""	"benign"	""
"0000351922"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Bouchet 2007:17559086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351923"	"2"	"90"	"1"	"46660538"	"46660538"	"subst"	"0"	"00006"	"POMGNT1_000050"	"g.46660538C>A"	""	"{PMID:Bouchet 2007:17559086}"	""	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46194866C>A"	""	"pathogenic"	""
"0000351924"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Bouchet 2007:17559086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351925"	"2"	"90"	"1"	"46661571"	"46661631"	"del"	"0"	"00006"	"POMGNT1_000049"	"g.46661571_46661631del"	""	"{PMID:Bouchet 2007:17559086}"	""	"421-29_452del61"	""	"Germline"	"yes"	""	"0"	""	""	"g.46195899_46195959del"	""	"pathogenic"	""
"0000351926"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Bouchet 2007:17559086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351927"	"2"	"70"	"1"	"46659545"	"46659545"	"subst"	"1.62514E-5"	"00006"	"POMGNT1_000008"	"g.46659545C>T"	""	"{PMID:Bouchet 2007:17559086}"	""	""	"parental DNA not available; not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46193873C>T"	""	"likely pathogenic"	""
"0000351928"	"2"	"50"	"1"	"46660031"	"46660031"	"subst"	"3.65512E-5"	"00006"	"POMGNT1_000019"	"g.46660031C>T"	""	"{PMID:Bouchet 2007:17559086}"	""	""	"parental DNA not available; not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46194359C>T"	""	"VUS"	""
"0000351929"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Bouchet 2007:17559086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351930"	"2"	"90"	"1"	"46660532"	"46660532"	"subst"	"3.65586E-5"	"00006"	"POMGNT1_000030"	"g.46660532G>A"	""	"{PMID:Bouchet 2007:17559086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194860G>A"	""	"pathogenic"	""
"0000351931"	"3"	"90"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00006"	"POMGNT1_000022"	"g.46657840C>T"	""	"{PMID:Bouchet 2007:17559086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192168C>T"	""	"pathogenic"	""
"0000351933"	"3"	"90"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00006"	"POMGNT1_000022"	"g.46657840C>T"	""	"{PMID:Bouchet 2007:17559086}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192168C>T"	""	"pathogenic"	""
"0000351935"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00400"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Teber 2008:17881266}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351937"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00400"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Teber 2008:17881266}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351941"	"3"	"90"	"1"	"46658069"	"46658069"	"subst"	"0"	"00400"	"POMGNT1_000007"	"g.46658069G>A"	""	"{PMID:Hehr 2007:17906881}"	""	"R442C"	""	"Germline"	""	"rs28940869"	"0"	""	""	"g.46192397G>A"	""	"pathogenic"	""
"0000351943"	"3"	"90"	"1"	"46658069"	"46658069"	"subst"	"0"	"00400"	"POMGNT1_000007"	"g.46658069G>A"	""	"{PMID:Hehr 2007:17906881}"	""	"R442C"	""	"Germline"	"yes"	"rs28940869"	"0"	""	""	"g.46192397G>A"	""	"pathogenic"	""
"0000351945"	"3"	"90"	"1"	"46658069"	"46658069"	"subst"	"0"	"00400"	"POMGNT1_000007"	"g.46658069G>A"	""	"{PMID:Hehr 2007:17906881}"	""	"R442C"	""	"Germline"	""	"rs28940869"	"0"	""	""	"g.46192397G>A"	""	"pathogenic"	""
"0000351947"	"1"	"90"	"1"	"46660575"	"46660575"	"del"	"0"	"00400"	"POMGNT1_000051"	"g.46660575del"	""	"{PMID:Hehr 2007:17906881}"	""	"593delG"	""	"Germline"	""	""	"0"	""	""	"g.46194903del"	""	"pathogenic"	""
"0000351948"	"2"	"90"	"1"	"46663473"	"46663473"	"dup"	"0"	"00400"	"POMGNT1_000052"	"g.46663473dup"	""	"{PMID:Hehr 2007:17906881}"	""	"25_26insC"	""	"Germline"	""	""	"0"	""	""	"g.46197801dup"	""	"pathogenic"	""
"0000351949"	"1"	"90"	"1"	"46658049"	"46658053"	"del"	"0"	"00400"	"POMGNT1_000053"	"g.46658049_46658053del"	""	"{PMID:Hehr 2007:17906881}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192377_46192381del"	""	"pathogenic"	""
"0000351950"	"2"	"90"	"1"	"46658049"	"46658053"	"del"	"0"	"00400"	"POMGNT1_000053"	"g.46658049_46658053del"	""	"{PMID:Hehr 2007:17906881}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192377_46192381del"	""	"pathogenic"	""
"0000351951"	"3"	"90"	"1"	"46658068"	"46658068"	"subst"	"1.62538E-5"	"00400"	"POMGNT1_000014"	"g.46658068C>T"	""	"{PMID:Haliloglu 2004:15938569}, {PMID:Hehr 2007:17906881}"	""	"R442H"	""	"Germline"	""	""	"0"	""	""	"g.46192396C>T"	""	"pathogenic"	""
"0000351953"	"1"	"90"	"1"	"46655573"	"46655573"	"subst"	"8.14764E-6"	"00400"	"POMGNT1_000055"	"g.46655573G>A"	""	"{PMID:Hehr 2007:17906881}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189901G>A"	""	"pathogenic"	""
"0000351954"	"2"	"90"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00400"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Hehr 2007:17906881}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189539C>T"	""	"pathogenic"	""
"0000351955"	"0"	"90"	"1"	"46658069"	"46658069"	"subst"	"0"	"00464"	"POMGNT1_000007"	"g.46658069G>A"	""	""	""	""	""	"Germline"	""	"rs28940869"	"0"	""	""	"g.46192397G>A"	""	"pathogenic"	""
"0000351956"	"0"	"50"	"1"	"46657847"	"46657847"	"subst"	"4.06062E-6"	"00464"	"POMGNT1_000057"	"g.46657847G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192175G>C"	""	"VUS"	""
"0000351957"	"1"	"90"	"1"	"46660031"	"46660031"	"subst"	"3.65512E-5"	"00464"	"POMGNT1_000019"	"g.46660031C>T"	""	"{PMID:Willer 2012:22522420}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194359C>T"	""	"pathogenic"	""
"0000351958"	"2"	"70"	"1"	"46659545"	"46659545"	"subst"	"1.62514E-5"	"00464"	"POMGNT1_000008"	"g.46659545C>T"	""	"{PMID:Willer 2012:22522420}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193873C>T"	""	"likely pathogenic"	""
"0000351959"	"0"	"50"	"1"	"46659306"	"46659306"	"subst"	"0"	"00464"	"POMGNT1_000056"	"g.46659306A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193634A>G"	""	"VUS"	""
"0000351960"	"1"	"90"	"1"	"46658068"	"46658068"	"subst"	"1.62538E-5"	"00464"	"POMGNT1_000014"	"g.46658068C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192396C>T"	""	"pathogenic"	""
"0000351961"	"2"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00464"	"POMGNT1_000002"	"g.46657769C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351962"	"3"	"50"	"1"	"46659569"	"46659569"	"subst"	"8.12427E-6"	"00464"	"POMGNT1_000054"	"g.46659569G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193897G>A"	""	"VUS"	""
"0000351963"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00464"	"POMGNT1_000002"	"g.46657769C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351964"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Clement:19067344}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351965"	"2"	"90"	"1"	"46655573"	"46655573"	"subst"	"8.14764E-6"	"00006"	"POMGNT1_000055"	"g.46655573G>A"	""	"{PMID:Clement:19067344}"	""	"Arg580X"	""	"Germline"	""	""	"0"	""	""	"g.46189901G>A"	""	"pathogenic"	""
"0000351966"	"1"	"90"	"1"	"46658195"	"46658195"	"subst"	"0"	"00006"	"POMGNT1_000029"	"g.46658195C>G"	""	"{PMID:Clement:19067344}"	""	"Asp427His"	""	"Germline"	""	""	"0"	""	""	"g.46192523C>G"	""	"pathogenic"	""
"0000351967"	"2"	"90"	"1"	"46661572"	"46661572"	"dup"	"0"	"00006"	"POMGNT1_000028"	"g.46661572dup"	""	"{PMID:Clement:19067344}"	""	"447dupT A(sp150fsX)"	""	"Germline"	""	""	"0"	""	""	"g.46195900dup"	""	"pathogenic"	""
"0000351968"	"3"	"90"	"1"	"46652588"	"46657586"	"del"	"0"	"00006"	"POMGNT1_000113"	"g.46652588_46657586del"	""	"{PMID:Vuillaumier-Barrot 2011:21727005}"	""	"1539+184_1983+2354del4972"	"5.0 Kb deletion exon 17-22"	"Germline"	""	""	"0"	""	""	"g.46186916_46191914del"	""	"pathogenic"	""
"0000351970"	"11"	"90"	"1"	"46658051"	"46658051"	"subst"	"4.06233E-6"	"00006"	"POMGNT1_000060"	"g.46658051C>G"	""	"{PMID:Vuillaumier-Barrot 2011:21727005}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192379C>G"	""	"pathogenic"	""
"0000351971"	"21"	"90"	"1"	"46652537"	"46657509"	"del"	"0"	"00006"	"POMGNT1_000062"	"g.46652537_46657509del"	""	"{PMID:Vuillaumier-Barrot 2011:21727005}"	""	"1539+261_1983+2405del4972"	"5.0 Kb deletion exon 17-22"	"Germline"	""	""	"0"	""	""	"g.46186865_46191837del"	""	"pathogenic"	""
"0000351972"	"1"	"90"	"1"	"46659546"	"46659546"	"subst"	"0"	"00464"	"POMGNT1_000063"	"g.46659546G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193874G>A"	""	"pathogenic"	""
"0000351973"	"2"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00464"	"POMGNT1_000002"	"g.46657769C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351974"	"21"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00464"	"POMGNT1_000002"	"g.46657769C>T"	""	""	"tlwinder"	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351975"	"11"	"70"	"1"	"46658107"	"46658107"	"subst"	"8.12929E-6"	"00464"	"POMGNT1_000064"	"g.46658107C>T"	""	""	"tlwinder"	""	""	"Germline"	""	""	"0"	""	""	"g.46192435C>T"	""	"likely pathogenic"	""
"0000351976"	"0"	"10"	"1"	"46662609"	"46662609"	"subst"	"0.0292085"	"00430"	"POMGNT1_000041"	"g.46662609A>C"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46196937A>C"	""	"benign"	""
"0000351977"	"0"	"50"	"1"	"46662534"	"46662534"	"subst"	"0.000475138"	"00430"	"POMGNT1_000065"	"g.46662534A>G"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46196862A>G"	""	"VUS"	""
"0000351978"	"0"	"10"	"1"	"46661776"	"46661776"	"subst"	"0.0292094"	"00430"	"POMGNT1_000042"	"g.46661776G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46196104G>A"	""	"benign"	""
"0000351979"	"0"	"90"	"1"	"46660532"	"46660532"	"subst"	"3.65586E-5"	"00430"	"POMGNT1_000030"	"g.46660532G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46194860G>A"	""	"pathogenic"	""
"0000351980"	"0"	"10"	"1"	"46660295"	"46660295"	"subst"	"0.356255"	"00430"	"POMGNT1_000045"	"g.46660295T>C"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	"rs2292487"	"0"	""	""	"g.46194623T>C"	""	"benign"	""
"0000351981"	"0"	"10"	"1"	"46659636"	"46659636"	"subst"	"0.0260688"	"00430"	"POMGNT1_000066"	"g.46659636C>G"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46193964C>G"	""	"benign"	""
"0000351982"	"0"	"50"	"1"	"46659602"	"46659602"	"subst"	"8.13114E-6"	"00430"	"POMGNT1_000067"	"g.46659602G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46193930G>A"	""	"VUS"	""
"0000351983"	"0"	"10"	"1"	"46659104"	"46659104"	"subst"	"0.366075"	"00430"	"POMGNT1_000068"	"g.46659104T>C"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46193432T>C"	""	"benign"	""
"0000351984"	"0"	"10"	"1"	"46658910"	"46658910"	"subst"	"0.0669313"	"00430"	"POMGNT1_000033"	"g.46658910G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46193238G>A"	""	"benign"	""
"0000351985"	"0"	"90"	"1"	"46657982"	"46657982"	"subst"	"0"	"00430"	"POMGNT1_000069"	"g.46657982T>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46192310T>A"	""	"pathogenic"	""
"0000351986"	"0"	"10"	"1"	"46657933"	"46657933"	"subst"	"0.00190052"	"00430"	"POMGNT1_000070"	"g.46657933C>T"	""	"from website {DBsub-Emory}"	""	"1413+47G>A"	""	"Unknown"	""	""	"0"	""	""	"g.46192261C>T"	""	"benign"	""
"0000351987"	"0"	"10"	"1"	"46657799"	"46657799"	"subst"	"0.00102741"	"00430"	"POMGNT1_000058"	"g.46657799C>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	"rs17102066"	"0"	""	""	"g.46192127C>T"	""	"benign"	""
"0000351988"	"0"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00430"	"POMGNT1_000002"	"g.46657769C>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000351989"	"0"	"10"	"1"	"46656472"	"46656472"	"subst"	"0.00596152"	"00430"	"POMGNT1_000071"	"g.46656472G>A"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46190800G>A"	""	"benign"	""
"0000351990"	"0"	"10"	"1"	"46655495"	"46655495"	"subst"	"0.0311666"	"00430"	"POMGNT1_000037"	"g.46655495G>T"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46189823G>T"	""	"benign"	""
"0000351991"	"0"	"10"	"1"	"46655486"	"46655486"	"subst"	"0.000735051"	"00430"	"POMGNT1_000072"	"g.46655486G>C"	""	"from website {DBsub-Emory}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46189814G>C"	""	"benign"	""
"0000351992"	"0"	"10"	"1"	"46655158"	"46655158"	"subst"	"0"	"00430"	"POMGNT1_000038"	"g.46655158C>T"	""	"from website {DBsub-Emory}"	""	"1867A>G"	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Unknown"	""	"rs6659553"	"0"	""	""	""	""	"benign"	""
"0000351993"	"0"	"50"	"1"	"46655152"	"46655152"	"subst"	"8.1636E-6"	"00430"	"POMGNT1_000073"	"g.46655152C>T"	""	"from website {DBsub-Emory}"	""	"NM_017739.3:1873G>A (Gly625Arg)"	""	"Unknown"	""	""	"0"	""	""	"g.46189480C>T"	""	"VUS"	""
"0000351994"	"0"	"10"	"1"	"46655100"	"46655100"	"subst"	"0.035222"	"00430"	"POMGNT1_000039"	"g.46655100T>C"	""	"from website {DBsub-Emory}"	""	"NM_017739.3:1895+30A>G"	""	"Unknown"	""	""	"0"	""	""	"g.46189428T>C"	""	"benign"	""
"0000351995"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0"	"00464"	"POMGNT1_000001"	"g.46657769C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>A"	""	"pathogenic"	""
"0000351996"	"2"	"90"	"1"	"46655129"	"46655129"	"subst"	"8.17514E-5"	"00464"	"POMGNT1_000024"	"g.46655129C>A"	""	""	""	"NM_017739.3:1895+1G>T"	""	"Germline"	""	""	"0"	""	""	"g.46189457C>A"	""	"pathogenic"	""
"0000351997"	"11"	"90"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00464"	"POMGNT1_000022"	"g.46657840C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192168C>T"	""	"pathogenic"	""
"0000351998"	"21"	"70"	"1"	"46659301"	"46659301"	"subst"	"0"	"00464"	"POMGNT1_000074"	"g.46659301A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193629A>G"	""	"likely pathogenic"	""
"0000351999"	"1"	"50"	"1"	"46662513"	"46662513"	"subst"	"0"	"00006"	"POMGNT1_000059"	"g.46662513G>A"	"0.34"	""	""	""	""	"Germline"	""	"rs34212808"	"0"	""	""	"g.46196841G>A"	""	"VUS"	""
"0000352000"	"1"	"50"	"1"	"46663448"	"46663448"	"subst"	"2.8428E-5"	"00006"	"POMGNT1_000010"	"g.46663448G>A"	"0.01"	""	""	""	""	"Germline"	""	"rs34058684"	"0"	""	""	"g.46197776G>A"	""	"VUS"	""
"0000352336"	"3"	"90"	"1"	"46660532"	"46660532"	"subst"	"3.65586E-5"	"00006"	"POMGNT1_000030"	"g.46660532G>A"	""	"{PMID:Oliveira 2008:18330676}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194860G>A"	""	"pathogenic"	""
"0000352497"	"21"	"90"	"1"	"46662461"	"46662461"	"subst"	"0"	"01866"	"POMGNT1_000156"	"g.46662461A>G"	""	"{PMID:Fu 2017:28765568}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46196789A>G"	""	"pathogenic"	""
"0000352498"	"21"	"90"	"1"	"46655865"	"46657454"	"del"	"0"	"01866"	"POMGNT1_000158"	"g.46655865_46657454del"	""	"{PMID:Fu 2017:28765568}"	""	"g.6668–8257del"	""	"Germline"	""	""	"0"	""	""	"g.46190193_46191782del"	""	"pathogenic"	""
"0000352499"	"21"	"90"	"1"	"46660525"	"46660525"	"subst"	"2.03113E-5"	"00006"	"POMGNT1_000139"	"g.46660525G>A"	""	"{PMID:Saredi 2012:22554691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194853G>A"	""	"pathogenic"	""
"0000352500"	"11"	"90"	"1"	"46659546"	"46659546"	"subst"	"0"	"00006"	"POMGNT1_000063"	"g.46659546G>A"	""	"{PMID:Saredi 2012:22554691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193874G>A"	""	"pathogenic"	""
"0000352503"	"11"	"90"	"1"	"46662407"	"46662407"	"del"	"0"	"00006"	"POMGNT1_000196"	"g.46662407del"	""	"{PMID:Saredi 2012:22554691}"	""	"350delC"	""	"Germline"	""	""	"0"	""	""	"g.46196735del"	""	"pathogenic"	""
"0000352504"	"21"	"90"	"1"	"46660224"	"46663544"	"del"	"0"	"00006"	"POMGNT1_000134"	"g.(46660074_46660224)_(46663544_46685376)del"	""	"{PMID:Saredi 2012:22554691}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000352505"	"21"	"90"	"1"	"46655129"	"46655129"	"subst"	"8.17514E-5"	"00006"	"POMGNT1_000024"	"g.46655129C>A"	""	"{PMID:Saredi 2012:22554691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189457C>A"	""	"pathogenic"	""
"0000352506"	"11"	"90"	"1"	"46662407"	"46662407"	"del"	"0"	"00006"	"POMGNT1_000196"	"g.46662407del"	""	"{PMID:Saredi 2012:22554691}"	""	"350delC"	""	"Germline"	""	""	"0"	""	""	"g.46196735del"	""	"pathogenic"	""
"0000352507"	"3"	"90"	"1"	"46655162"	"46655162"	"del"	"0"	"00006"	"POMGNT1_000125"	"g.46655162del"	""	"{PMID:Saredi 2012:22554691}"	""	"1863delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.46189490del"	""	"pathogenic"	""
"0000352508"	"11"	"90"	"1"	"46655030"	"46655030"	"subst"	"0"	"00006"	"POMGNT1_000130"	"g.46655030C>G"	""	"{PMID:Jiao 2011:21983716}, {PMID:Jiao 2013:23689641}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189358C>G"	""	"pathogenic"	""
"0000352509"	"21"	"90"	"1"	"46658074"	"46658074"	"subst"	"0"	"00006"	"POMGNT1_000106"	"g.46658074A>C"	""	"{PMID:Jiao 2011:21983716}, {PMID:Jiao 2013:23689641}"	""	""	"expression cloning shows significant decrement in enzymatic activity"	"Germline"	"yes"	""	"0"	""	""	"g.46192402A>C"	""	"pathogenic"	""
"0000352510"	"1"	"90"	"1"	"46655211"	"46655211"	"subst"	"8.20883E-6"	"00006"	"POMGNT1_000124"	"g.46655211C>G"	""	"{PMID:Jiao 2013:23689641}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189539C>G"	""	"pathogenic"	""
"0000352511"	"2"	"90"	"1"	"46657796"	"46657796"	"subst"	"1.21832E-5"	"00006"	"POMGNT1_000149"	"g.46657796C>T"	""	"{PMID:Jiao 2013:23689641}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192124C>T"	""	"pathogenic"	""
"0000352512"	"1"	"90"	"1"	"46660593"	"46660593"	"subst"	"0"	"00006"	"POMGNT1_000150"	"g.46660593A>G"	""	"{PMID:Jiao 2013:23689641}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194921A>G"	""	"pathogenic"	""
"0000352513"	"2"	"90"	"1"	"46658068"	"46658068"	"subst"	"0"	"00006"	"POMGNT1_000148"	"g.46658068C>A"	""	"{PMID:Jiao 2013:23689641}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192396C>A"	""	"pathogenic"	""
"0000352514"	"3"	"97"	"1"	"46655211"	"46655211"	"subst"	"8.20883E-6"	"00006"	"POMGNT1_000124"	"g.46655211C>G"	""	"{PMID:Demir 2009:19679478}"	""	""	"not in 332 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.46189539C>G"	""	"pathogenic"	""
"0000352515"	"3"	"97"	"1"	"46655211"	"46655211"	"subst"	"8.20883E-6"	"00006"	"POMGNT1_000124"	"g.46655211C>G"	""	"{PMID:Yis 2014:24731844}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189539C>G"	""	"pathogenic"	""
"0000352516"	"3"	"97"	"1"	"46658049"	"46658053"	"del"	"0"	"00006"	"POMGNT1_000053"	"g.46658049_46658053del"	""	"{PMID:Yis 2014:24731844}"	""	"1350_1354delCTGGG"	""	"Germline"	""	""	"0"	""	""	"g.46192377_46192381del"	""	"pathogenic"	""
"0000352517"	"3"	"97"	"1"	"46658049"	"46658053"	"del"	"0"	"00006"	"POMGNT1_000053"	"g.46658049_46658053del"	""	"{PMID:Hehr 2007:17906881}"	""	"1350_1354delCTGGG"	""	"Germline"	""	""	"0"	""	""	"g.46192377_46192381del"	""	"pathogenic"	""
"0000352518"	"1"	"90"	"1"	"46660575"	"46660575"	"del"	"0"	"00006"	"POMGNT1_000051"	"g.46660575del"	""	"{PMID:Hehr 2007:17906881}"	""	"593del premTerm240"	""	"Germline"	""	""	"0"	""	""	"g.46194903del"	""	"pathogenic"	""
"0000352519"	"2"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Hehr 2007:17906881}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000352520"	"3"	"90"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00006"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Yis 2014:24731844}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.46189539C>T"	""	"pathogenic"	""
"0000352521"	"3"	"90"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00006"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Yis 2014:24731844}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.46189539C>T"	""	"pathogenic"	""
"0000352522"	"3"	"90"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00006"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Yis 2014:24731844}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189539C>T"	""	"pathogenic"	""
"0000352523"	"3"	"90"	"1"	"46660273"	"46660273"	"subst"	"0"	"00006"	"POMGNT1_000154"	"g.46660273C>G"	""	"{PMID:Yis 2014:24731844}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194601C>G"	""	"pathogenic"	""
"0000352524"	"3"	"90"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00006"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Yis 2014:24731844}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189539C>T"	""	"pathogenic"	""
"0000352525"	"3"	"90"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00006"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Yis 2014:24731844}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189539C>T"	""	"pathogenic"	""
"0000352526"	"3"	"90"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00006"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Yis 2014:24731844}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.46189539C>T"	""	"pathogenic"	""
"0000352527"	"3"	"90"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00006"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Yis 2014:24731844}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.46189539C>T"	""	"pathogenic"	""
"0000352528"	"3"	"90"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00006"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Yis 2014:24731844}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189539C>T"	""	"pathogenic"	""
"0000352529"	"3"	"90"	"1"	"46655525"	"46655525"	"subst"	"0"	"00006"	"POMGNT1_000155"	"g.46655525C>T"	""	"{PMID:Yis 2014:24731844}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189853C>T"	""	"pathogenic"	""
"0000352530"	"1"	"50"	"1"	"46660031"	"46660031"	"subst"	"3.65512E-5"	"00006"	"POMGNT1_000019"	"g.46660031C>T"	""	"{PMID:Shenoy 2010:20215985}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194359C>T"	""	"VUS"	""
"0000352531"	"1"	"50"	"1"	"46659545"	"46659545"	"subst"	"1.62514E-5"	"00006"	"POMGNT1_000008"	"g.46659545C>T"	""	"{PMID:Shenoy 2010:20215985}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193873C>T"	""	"VUS"	""
"0000352532"	"2"	"90"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00006"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Shenoy 2010:20215985}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189539C>T"	""	"pathogenic"	""
"0000352533"	"11"	"90"	"1"	"46658069"	"46658069"	"subst"	"0"	"00006"	"POMGNT1_000007"	"g.46658069G>A"	""	"{PMID:Vervoort 2004:15236414}, {PMID:Vajsar 2006:16427280}"	""	"1465C>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.46192397G>A"	""	"pathogenic"	""
"0000352534"	"21"	"90"	"1"	"46659545"	"46659545"	"subst"	"1.62514E-5"	"00006"	"POMGNT1_000008"	"g.46659545C>T"	""	"{PMID:Vervoort 2004:15236414}, {PMID:Vajsar 2006:16427280}"	""	"1073G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.46193873C>T"	""	"pathogenic"	""
"0000352535"	"21"	"30"	"1"	"46660031"	"46660031"	"subst"	"3.65512E-5"	"00006"	"POMGNT1_000019"	"g.46660031C>T"	""	"{PMID:Vervoort 2004:15236414}, {PMID:Vajsar 2006:16427280}"	""	"935G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.46194359C>T"	""	"likely benign"	""
"0000352536"	"3"	"90"	"1"	"46656145"	"46656145"	"subst"	"0"	"00006"	"POMGNT1_000003"	"g.46656145C>T"	""	"{PMID:Zhang 2003:12849864}"	""	"G1743A"	"muscle extract POMGnT1 to GnT1 ratio 0.02"	"Germline"	""	""	"0"	""	""	"g.46190473C>T"	""	"pathogenic"	""
"0000352537"	"1"	"90"	"1"	"46657831"	"46657831"	"subst"	"0"	"00006"	"POMGNT1_000005"	"g.46657831G>C"	""	"{PMID:Zhang 2003:12849864}"	""	"C1572G"	""	"Germline"	""	""	"0"	""	""	"g.46192159G>C"	""	"pathogenic"	""
"0000352538"	"2"	"90"	"1"	"46655153"	"46655153"	"del"	"0"	"00006"	"POMGNT1_000006"	"g.46655153del"	""	"{PMID:Zhang 2003:12849864}"	""	"1970delG; NM_017739.3:c.1876del (Val626Serfs*8)"	""	"Germline"	""	""	"0"	""	""	"g.46189481del"	""	"pathogenic"	""
"0000352539"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Vajsar 2006:16427280}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000352540"	"3"	"90"	"1"	"46659545"	"46659545"	"subst"	"1.62514E-5"	"00006"	"POMGNT1_000008"	"g.46659545C>T"	""	"{PMID:Biancheri 2006:17030669}, {PMID:Mercuri 2009:19299310}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193873C>T"	""	"pathogenic (recessive)"	""
"0000352541"	"1"	"90"	"1"	"46659546"	"46659546"	"subst"	"0"	"00006"	"POMGNT1_000063"	"g.46659546G>A"	""	"{PMID:Biancheri 2006:17030669}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193874G>A"	""	"pathogenic (recessive)"	""
"0000352542"	"2"	"90"	"1"	"46658110"	"46658110"	"subst"	"4.06431E-6"	"00006"	"POMGNT1_000021"	"g.46658110T>C"	""	"{PMID:Biancheri 2006:17030669}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192438T>C"	""	"pathogenic (recessive)"	""
"0000352543"	"1"	"90"	"1"	"46659546"	"46659546"	"subst"	"0"	"00006"	"POMGNT1_000063"	"g.46659546G>A"	""	"{PMID:Biancheri 2006:17030669}, {PMID:Mercuri 2009:19299310}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193874G>A"	""	"pathogenic"	""
"0000352544"	"2"	"90"	"1"	"46658110"	"46658110"	"subst"	"4.06431E-6"	"00006"	"POMGNT1_000021"	"g.46658110T>C"	""	"{PMID:Biancheri 2006:17030669}, {PMID:Mercuri 2009:19299310}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192438T>C"	""	"pathogenic"	""
"0000352545"	"3"	"90"	"1"	"46658200"	"46658200"	"subst"	"4.06309E-6"	"00006"	"POMGNT1_000012"	"g.46658200C>G"	""	"{PMID:Lim 2013:23453855}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192528C>G"	""	"pathogenic"	""
"0000352546"	"1"	"90"	"1"	"46658008"	"46658008"	"subst"	"0"	"00006"	"POMGNT1_000152"	"g.46658008A>T"	""	"{PMID:Lim 2013:23453855}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192336A>T"	""	"pathogenic"	""
"0000352547"	"0"	"90"	"1"	"46659252"	"46659252"	"dup"	"0"	"00006"	"POMGNT1_000018"	"g.46659252dup"	""	"{PMID:Lim 2013:23453855}"	""	"1011insT"	""	"Germline"	""	""	"0"	""	""	"g.46193580dup"	""	"pathogenic"	""
"0000352552"	"11"	"90"	"1"	"46656452"	"46656452"	"del"	"0"	"00006"	"POMGNT1_000198"	"g.46656452del"	""	"{PMID:Raducu 2014:24282183}"	""	"1545delC"	"not in 200 control individuals"	"Germline"	""	""	"0"	""	""	"g.46190780del"	""	"pathogenic"	""
"0000352553"	"21"	"90"	"1"	"46657813"	"46657813"	"subst"	"0"	"00006"	"POMGNT1_000199"	"g.46657813T>C"	""	"{PMID:Raducu 2014:24282183}"	""	"1496G>A (Cys490Tyr)"	""	"Germline"	""	""	"0"	""	""	"g.46192141T>C"	""	"pathogenic"	""
"0000352554"	"1"	"77"	"1"	"46655030"	"46655030"	"subst"	"0"	"00006"	"POMGNT1_000130"	"g.46655030C>G"	""	""	""	""	"1 Chinese MDDGA3 (MEB) family (com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189358C>G"	""	"likely pathogenic"	""
"0000352555"	"3"	"97"	"1"	"46655162"	"46655162"	"del"	"0"	"00006"	"POMGNT1_000125"	"g.46655162del"	""	""	""	"1863delC"	"2 Italian MDDGA3 (MEB) patients (both hom)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46189490del"	""	"pathogenic"	""
"0000352556"	"1"	"77"	"1"	"46657796"	"46657796"	"subst"	"1.21832E-5"	"00006"	"POMGNT1_000149"	"g.46657796C>T"	""	""	""	""	"1 Chinese MDDGA3 patient (com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192124C>T"	""	"likely pathogenic"	""
"0000352557"	"1"	"77"	"1"	"46658068"	"46658068"	"subst"	"0"	"00006"	"POMGNT1_000148"	"g.46658068C>A"	""	""	""	""	"1 Chinese MDDGA3 patient (com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192396C>A"	""	"likely pathogenic"	""
"0000352558"	"1"	"77"	"1"	"46658074"	"46658074"	"subst"	"0"	"00006"	"POMGNT1_000106"	"g.46658074A>C"	""	""	""	""	"1 Chinese MDDGA3 (MEB) family (com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46192402A>C"	""	"likely pathogenic"	""
"0000352559"	"1"	"97"	"1"	"46659284"	"46659284"	"dup"	"0"	"00006"	"POMGNT1_000017"	"g.46659284dup"	""	""	""	"1077insG"	"1 Japan MDDGA3 (MEB) patient (com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46193612dup"	""	"pathogenic"	""
"0000352560"	"1"	"97"	"1"	"46660224"	"46663544"	"del"	"0"	"00006"	"POMGNT1_000134"	"g.(46660074_46660224)_(46663544_46685376)del"	""	""	""	"deletion exons 2–8"	"1 Italian MDDGA3 (MEB) patient (com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	""	""	"pathogenic"	""
"0000352561"	"1"	"97"	"1"	"46660309"	"46660309"	"subst"	"0"	"00006"	"POMGNT1_000016"	"g.46660309C>T"	""	""	""	"761G>A"	"1 Japanese  and 1 Belgian MDDGA3 (MEB) patient (both com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46194637C>T"	""	"pathogenic"	""
"0000352562"	"1"	"97"	"1"	"46660525"	"46660525"	"subst"	"2.03113E-5"	"00006"	"POMGNT1_000139"	"g.46660525G>A"	""	""	""	"in-frame skip exon 7"	"1 Italian MDDGA3 (MEB) patient (com-het) and 1 MDDGA3 (MEB) patient (hom) with unknown ethnicity"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46194853G>A"	""	"pathogenic"	""
"0000352563"	"1"	"97"	"1"	"46660575"	"46660575"	"del"	"0"	"00006"	"POMGNT1_000051"	"g.46660575del"	""	""	""	"593delG"	"1 American and 1 German MDDGA3 (MEB) patient (both com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46194903del"	""	"pathogenic"	""
"0000352564"	"1"	"77"	"1"	"46660593"	"46660593"	"subst"	"0"	"00006"	"POMGNT1_000150"	"g.46660593A>G"	""	""	""	""	"1 Chinese MDDGA3 (MEB) patient (com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46194921A>G"	""	"likely pathogenic"	""
"0000352565"	"3"	"77"	"1"	"46661491"	"46661491"	"subst"	"4.58014E-6"	"00006"	"POMGNT1_000043"	"g.46661491T>G"	""	""	""	"Thr176Pro"	"1 MDDGA3 (MEB) patient (hom) with unknown ethnicity"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46195819T>G"	""	"likely pathogenic"	""
"0000352566"	"1"	"97"	"1"	"46661572"	"46661572"	"del"	"0"	"00006"	"POMGNT1_000015"	"g.46661572del"	""	""	""	"541delT"	"1 Japan MDDGA3 (MEB) patient (com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46195900del"	""	"pathogenic"	""
"0000352567"	"1"	"97"	"1"	"46662407"	"46662407"	"del"	"0"	"00006"	"POMGNT1_000196"	"g.46662407del"	""	""	""	"350delC"	"2 Italian MDDGA3 (MEB) patients (both com-het) and 1 MDDGA3 (MEB) patient (com-het) with unknown ethnicity"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46196735del"	""	"pathogenic"	""
"0000352568"	"1"	"97"	"1"	"46663473"	"46663473"	"dup"	"0"	"00006"	"POMGNT1_000052"	"g.46663473dup"	""	""	""	"25_26insC"	"1 German MDDGA3 (MEB) patient (com-het)"	"SUMMARY record"	"-"	""	"0"	""	""	"g.46197801dup"	""	"pathogenic"	""
"0000352677"	"3"	"90"	"1"	"46655211"	"46655211"	"subst"	"8.20883E-6"	"00006"	"POMGNT1_000124"	"g.46655211C>G"	""	"{PMID:Mercuri 2009:19299310}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189539C>G"	""	"pathogenic"	""
"0000352678"	"3"	"90"	"1"	"46660532"	"46660532"	"subst"	"3.65586E-5"	"00006"	"POMGNT1_000030"	"g.46660532G>A"	""	"{PMID:Mercuri 2009:19299310}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194860G>A"	""	"pathogenic"	""
"0000352679"	"1"	"90"	"1"	"46660574"	"46660574"	"subst"	"0"	"00006"	"POMGNT1_000137"	"g.46660574G>C"	""	"{PMID:Biancheri 2006:17030669}, {PMID:Mercuri 2009:19299310}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194902G>C"	""	"pathogenic (recessive)"	""
"0000352680"	"2"	"90"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00006"	"POMGNT1_000022"	"g.46657840C>T"	""	"{PMID:Biancheri 2006:17030669}, {PMID:Mercuri 2009:19299310}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192168C>T"	""	"pathogenic (recessive)"	""
"0000352681"	"1"	"90"	"1"	"46662407"	"46662407"	"del"	"0"	"00006"	"POMGNT1_000075"	"g.46662407del"	""	"{PMID:Mercuri 2009:19299310}"	""	"350delC"	""	"Germline"	""	""	"0"	""	""	"g.46196735del"	""	"pathogenic"	""
"0000352682"	"2"	"90"	"1"	"46655129"	"46655129"	"subst"	"8.17514E-5"	"00006"	"POMGNT1_000024"	"g.46655129C>A"	""	"{PMID:Mercuri 2009:19299310}"	""	"1895+1G>T"	""	"Germline"	""	""	"0"	""	""	"g.46189457C>A"	""	"pathogenic"	""
"0000352683"	"3"	"90"	"1"	"46658110"	"46658110"	"subst"	"4.06431E-6"	"00006"	"POMGNT1_000021"	"g.46658110T>C"	""	"{PMID:Mercuri 2009:19299310}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192438T>C"	""	"pathogenic"	""
"0000352684"	"3"	"90"	"1"	"46662690"	"46662690"	"subst"	"0"	"00006"	"POMGNT1_000076"	"g.46662690G>A"	""	"{PMID:Mercuri 2009:19299310}"	""	"281C>T (R63X)"	""	"Germline"	""	""	"0"	""	""	"g.46197018G>A"	""	"pathogenic"	""
"0000453953"	"0"	"90"	"1"	"46655550"	"46655554"	"del"	"0"	"01807"	"POMGNT1_000200"	"g.46655550_46655554del"	""	""	""	"1759_1763delTTCAC"	""	"Unknown"	""	""	"0"	""	""	"g.46189878_46189882del"	""	"pathogenic"	""
"0000453954"	"0"	"90"	"1"	"46658985"	"46658985"	"subst"	"4.08097E-6"	"01807"	"POMGNT1_000201"	"g.46658985C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.46193313C>T"	""	"pathogenic"	""
"0000464826"	"1"	"50"	"1"	"46657855"	"46657855"	"subst"	"9.74532E-5"	"00430"	"POMGNT1_000209"	"g.46657855C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46192183C>T"	""	"VUS"	""
"0000464827"	"1"	"50"	"1"	"46658626"	"46658626"	"subst"	"4.06105E-6"	"00430"	"POMGNT1_000213"	"g.46658626G>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46192954G>A"	""	"VUS"	""
"0000464828"	"1"	"50"	"1"	"46661686"	"46661686"	"subst"	"0"	"00430"	"POMGNT1_000232"	"g.46661686T>C"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46196014T>C"	""	"VUS"	""
"0000464829"	"1"	"50"	"1"	"46661514"	"46661514"	"subst"	"0"	"00430"	"POMGNT1_000227"	"g.46661514G>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46195842G>A"	""	"VUS"	""
"0000464830"	"1"	"50"	"1"	"46660270"	"46660270"	"subst"	"1.21834E-5"	"00430"	"POMGNT1_000224"	"g.46660270C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46194598C>T"	""	"VUS"	""
"0000464831"	"1"	"50"	"1"	"46659986"	"46659986"	"subst"	"0.000235525"	"00430"	"POMGNT1_000220"	"g.46659986C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46194314C>T"	""	"VUS"	""
"0000464832"	"1"	"50"	"1"	"46662491"	"46662491"	"subst"	"0.000117767"	"00430"	"POMGNT1_000237"	"g.46662491C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46196819C>T"	""	"VUS"	""
"0000464833"	"1"	"50"	"1"	"0"	"0"	""	"0"	"00430"	"NPHS2_000000"	"g.?"	""	"{PMID:Nallamilli 2018:30564623}"	""	"1927T>G (F643V)"	"no second variant"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000464834"	"1"	"50"	"1"	"0"	"0"	""	"0"	"00430"	"NPHS2_000000"	"g.?"	""	"{PMID:Nallamilli 2018:30564623}"	""	"1933G>C (E645Q)"	"no second variant"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000464835"	"1"	"50"	"1"	"46662471"	"46662471"	"subst"	"2.43671E-5"	"00430"	"POMGNT1_000234"	"g.46662471G>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46196799G>A"	""	"VUS"	""
"0000464836"	"1"	"50"	"1"	"46659252"	"46659252"	"subst"	"2.03171E-5"	"00430"	"POMGNT1_000217"	"g.46659252A>G"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193580A>G"	""	"VUS"	""
"0000464837"	"1"	"50"	"1"	"46657833"	"46657833"	"subst"	"1.2182E-5"	"00430"	"POMGNT1_000206"	"g.46657833G>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192161G>T"	""	"VUS"	""
"0000464838"	"1"	"50"	"1"	"46663371"	"46663371"	"subst"	"3.24915E-5"	"00430"	"POMGNT1_000239"	"g.46663371T>C"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46197699T>C"	""	"VUS"	""
"0000464839"	"1"	"50"	"1"	"0"	"0"	""	"0"	"00430"	"POMGNT1_000000"	"g.?"	""	"{PMID:Nallamilli 2018:30564623}"	""	"1979C>T (T660I)"	"no second variant"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000464840"	"1"	"50"	"1"	"46661556"	"46661556"	"subst"	"0"	"00430"	"POMGNT1_000229"	"g.46661556G>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46195884G>A"	""	"VUS"	""
"0000464841"	"1"	"50"	"1"	"46659252"	"46659252"	"subst"	"2.03171E-5"	"00430"	"POMGNT1_000217"	"g.46659252A>G"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46193580A>G"	""	"VUS"	""
"0000464842"	"1"	"50"	"1"	"46657852"	"46657852"	"subst"	"1.62423E-5"	"00430"	"POMGNT1_000207"	"g.46657852C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192180C>T"	""	"VUS"	""
"0000464843"	"1"	"50"	"1"	"46663448"	"46663448"	"subst"	"2.8428E-5"	"00430"	"POMGNT1_000010"	"g.46663448G>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46197776G>A"	""	"VUS"	""
"0000464844"	"1"	"50"	"1"	"46660037"	"46660037"	"subst"	"3.65503E-5"	"00430"	"POMGNT1_000222"	"g.46660037C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46194365C>T"	""	"VUS"	""
"0000464845"	"1"	"50"	"1"	"46660607"	"46660607"	"subst"	"0"	"00430"	"POMGNT1_000226"	"g.46660607G>C"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194935G>C"	""	"VUS"	""
"0000464846"	"1"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00430"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"pathogenic"	""
"0000464847"	"1"	"50"	"1"	"46657855"	"46657855"	"subst"	"9.74532E-5"	"00430"	"POMGNT1_000209"	"g.46657855C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46192183C>T"	""	"VUS"	""
"0000464848"	"1"	"50"	"1"	"46662489"	"46662489"	"subst"	"2.43663E-5"	"00430"	"POMGNT1_000236"	"g.46662489G>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46196817G>A"	""	"VUS"	""
"0000464849"	"1"	"50"	"1"	"46662488"	"46662488"	"subst"	"5.27919E-5"	"00430"	"POMGNT1_000235"	"g.46662488C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46196816C>T"	""	"VUS"	""
"0000464850"	"1"	"50"	"1"	"46658254"	"46658254"	"subst"	"4.07262E-6"	"00430"	"POMGNT1_000212"	"g.46658254C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46192582C>T"	""	"VUS"	""
"0000464851"	"1"	"50"	"1"	"46659247"	"46659247"	"subst"	"0"	"00430"	"POMGNT1_000216"	"g.46659247C>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46193575C>A"	""	"VUS"	""
"0000464852"	"1"	"50"	"1"	"46657855"	"46657855"	"subst"	"9.74532E-5"	"00430"	"POMGNT1_000209"	"g.46657855C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46192183C>T"	""	"VUS"	""
"0000464853"	"1"	"50"	"1"	"46658210"	"46658210"	"subst"	"0"	"00430"	"POMGNT1_000211"	"g.46658210T>G"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46192538T>G"	""	"VUS"	""
"0000464854"	"1"	"50"	"1"	"46655579"	"46655579"	"subst"	"0"	"00430"	"POMGNT1_000204"	"g.46655579A>G"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46189907A>G"	""	"VUS"	""
"0000464855"	"1"	"90"	"1"	"46661541"	"46661541"	"dup"	"0"	"00430"	"POMGNT1_000228"	"g.46661541dup"	""	"{PMID:Nallamilli 2018:30564623}"	""	"477dupC"	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46195869dup"	""	"pathogenic"	""
"0000464856"	"1"	"50"	"1"	"46660037"	"46660037"	"subst"	"3.65503E-5"	"00430"	"POMGNT1_000222"	"g.46660037C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46194365C>T"	""	"VUS"	""
"0000464857"	"1"	"50"	"1"	"46659986"	"46659986"	"subst"	"0.000235525"	"00430"	"POMGNT1_000220"	"g.46659986C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46194314C>T"	""	"VUS"	""
"0000464858"	"1"	"50"	"1"	"46660067"	"46660067"	"subst"	"0"	"00430"	"POMGNT1_000223"	"g.46660067T>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194395T>A"	""	"VUS"	""
"0000464859"	"1"	"50"	"1"	"46658014"	"46658014"	"subst"	"0"	"00430"	"POMGNT1_000210"	"g.46658014T>G"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46192342T>G"	""	"VUS"	""
"0000464860"	"1"	"50"	"1"	"46654976"	"46654976"	"subst"	"0"	"00430"	"POMGNT1_000202"	"g.46654976T>G"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46189304T>G"	""	"VUS"	""
"0000464861"	"1"	"50"	"1"	"46662705"	"46662705"	"subst"	"1.21817E-5"	"00430"	"POMGNT1_000238"	"g.46662705T>C"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46197033T>C"	""	"VUS"	""
"0000464862"	"1"	"50"	"1"	"46658859"	"46658859"	"subst"	"0"	"00430"	"POMGNT1_000214"	"g.46658859A>G"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193187A>G"	""	"VUS"	""
"0000464863"	"1"	"50"	"1"	"46663448"	"46663448"	"subst"	"2.8428E-5"	"00430"	"POMGNT1_000010"	"g.46663448G>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46197776G>A"	""	"VUS"	""
"0000464864"	"1"	"50"	"1"	"0"	"0"	""	"0"	"00430"	"NPHS2_000000"	"g.?"	""	"{PMID:Nallamilli 2018:30564623}"	""	"1933G>C (E645Q)"	"no second variant"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000464865"	"1"	"50"	"1"	"46661603"	"46661603"	"subst"	"0.00052812"	"00430"	"POMGNT1_000231"	"g.46661603G>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46195931G>T"	""	"VUS"	""
"0000464866"	"1"	"50"	"1"	"46661565"	"46661565"	"subst"	"1.22105E-5"	"00430"	"POMGNT1_000230"	"g.46661565G>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46195893G>A"	""	"VUS"	""
"0000464867"	"1"	"50"	"1"	"46660312"	"46660312"	"subst"	"3.6547E-5"	"00430"	"POMGNT1_000225"	"g.46660312C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194640C>T"	""	"VUS"	""
"0000464868"	"1"	"50"	"1"	"46657855"	"46657855"	"subst"	"9.74532E-5"	"00430"	"POMGNT1_000209"	"g.46657855C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46192183C>T"	""	"VUS"	""
"0000464869"	"1"	"50"	"1"	"46657852"	"46657852"	"subst"	"0"	"00430"	"POMGNT1_000208"	"g.46657852C>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46192180C>A"	""	"VUS"	""
"0000464870"	"1"	"50"	"1"	"46657852"	"46657852"	"subst"	"0"	"00430"	"POMGNT1_000208"	"g.46657852C>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46192180C>A"	""	"VUS"	""
"0000464871"	"1"	"50"	"1"	"46659589"	"46659589"	"subst"	"2.03128E-5"	"00430"	"POMGNT1_000219"	"g.46659589G>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46193917G>T"	""	"VUS"	""
"0000464872"	"1"	"50"	"1"	"46659304"	"46659304"	"subst"	"4.47395E-5"	"00430"	"POMGNT1_000218"	"g.46659304G>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46193632G>A"	""	"VUS"	""
"0000464873"	"1"	"50"	"1"	"46663387"	"46663387"	"subst"	"1.21833E-5"	"00430"	"POMGNT1_000240"	"g.46663387C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46197715C>T"	""	"VUS"	""
"0000464874"	"1"	"50"	"1"	"46663478"	"46663478"	"subst"	"0"	"00430"	"POMGNT1_000241"	"g.46663478G>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46197806G>A"	""	"VUS"	""
"0000464875"	"1"	"50"	"1"	"46657777"	"46657777"	"subst"	"0"	"00430"	"POMGNT1_000205"	"g.46657777T>C"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46192105T>C"	""	"VUS"	""
"0000464876"	"1"	"50"	"1"	"46663456"	"46663456"	"subst"	"0.00012589"	"00430"	"POMGNT1_000183"	"g.46663456A>G"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46197784A>G"	""	"VUS"	""
"0000464877"	"1"	"50"	"1"	"46659005"	"46659005"	"subst"	"0"	"00430"	"POMGNT1_000215"	"g.46659005A>G"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46193333A>G"	""	"VUS"	""
"0000464878"	"1"	"50"	"1"	"46659005"	"46659005"	"subst"	"0"	"00430"	"POMGNT1_000215"	"g.46659005A>G"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46193333A>G"	""	"VUS"	""
"0000464879"	"1"	"50"	"1"	"46660028"	"46660028"	"subst"	"0"	"00430"	"POMGNT1_000221"	"g.46660028C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46194356C>T"	""	"VUS"	""
"0000464880"	"1"	"50"	"1"	"46659986"	"46659986"	"subst"	"0.000235525"	"00430"	"POMGNT1_000220"	"g.46659986C>T"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46194314C>T"	""	"VUS"	""
"0000464881"	"1"	"50"	"1"	"46655170"	"46655170"	"subst"	"4.48551E-5"	"00430"	"POMGNT1_000203"	"g.46655170T>A"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46189498T>A"	""	"VUS"	""
"0000464882"	"1"	"50"	"1"	"46661746"	"46661746"	"subst"	"8.12949E-6"	"00430"	"POMGNT1_000233"	"g.46661746G>C"	""	"{PMID:Nallamilli 2018:30564623}"	""	""	"no second variant"	"Germline"	""	""	"0"	""	""	"g.46196074G>C"	""	"VUS"	""
"0000464883"	"1"	"50"	"1"	"0"	"0"	""	"0"	"00430"	"NPHS2_000000"	"g.?"	""	"{PMID:Nallamilli 2018:30564623}"	""	"1933G>C (E645Q)"	"no second variant"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000475695"	"0"	"50"	"1"	"46655136"	"46655136"	"subst"	"7.76195E-5"	"02591"	"POMGNT1_000242"	"g.46655136G>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs747723242"	"0"	""	""	"g.46189464G>C"	""	"VUS"	""
"0000475696"	"0"	"50"	"1"	"46655563"	"46655563"	"subst"	"0"	"02591"	"POMGNT1_000243"	"g.46655563T>C"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189891T>C"	""	"VUS"	""
"0000475697"	"0"	"90"	"1"	"46657820"	"46657820"	"subst"	"1.21833E-5"	"02591"	"POMGNT1_000244"	"g.46657820G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs745343484"	"0"	""	""	"g.46192148G>A"	""	"pathogenic"	""
"0000475698"	"0"	"50"	"1"	"46659002"	"46659002"	"subst"	"0"	"02591"	"POMGNT1_000245"	"g.46659002C>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193330C>G"	""	"VUS"	""
"0000475699"	"0"	"50"	"1"	"46659303"	"46659303"	"subst"	"8.13306E-6"	"02591"	"POMGNT1_000246"	"g.46659303C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs368653589"	"0"	""	""	"g.46193631C>T"	""	"VUS"	""
"0000475700"	"0"	"50"	"1"	"46660013"	"46660013"	"subst"	"4.06081E-6"	"02591"	"POMGNT1_000247"	"g.46660013T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194341T>C"	""	"VUS"	""
"0000475701"	"3"	"50"	"1"	"46660035"	"46660035"	"subst"	"8.12236E-6"	"02591"	"POMGNT1_000248"	"g.46660035G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs369306680"	"0"	""	""	"g.46194363G>A"	""	"VUS"	""
"0000475702"	"0"	"50"	"1"	"46661518"	"46661518"	"subst"	"0"	"02591"	"POMGNT1_000249"	"g.46661518C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46195846C>T"	""	"VUS"	""
"0000507729"	"0"	"10"	"1"	"46655048"	"46655048"	"subst"	"4.07057E-6"	"02330"	"POMGNT1_000159"	"g.46655048A>G"	""	""	""	"POMGNT1(NM_001243766.2):c.1870-19T>C, POMGNT1(NM_017739.3):c.1896-19T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46189376A>G"	""	"benign"	""
"0000507730"	"0"	"50"	"1"	"46655200"	"46655200"	"subst"	"3.68002E-5"	"02325"	"LURAP1_000003"	"g.46655200G>A"	""	""	""	"POMGNT1(NM_001243766.2):c.1825C>T (p.R609W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46189528G>A"	""	"VUS"	""
"0000507731"	"0"	"90"	"1"	"46655525"	"46655525"	"subst"	"0"	"02327"	"POMGNT1_000155"	"g.46655525C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46189853C>T"	""	"pathogenic"	""
"0000507733"	"0"	"10"	"1"	"46655645"	"46655645"	"subst"	"0.00991042"	"02330"	"POMGNT1_000035"	"g.46655645C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1666G>A (p.(Asp556Asn), p.D556N), POMGNT1(NM_001243766.2):c.1666G>A (p.D556N), POMGNT1(NM_017739.3):c.1666G>A (p.D556N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46189973C>T"	""	"benign"	""
"0000507734"	"0"	"50"	"1"	"46655645"	"46655645"	"subst"	"0.00991042"	"01943"	"POMGNT1_000035"	"g.46655645C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1666G>A (p.(Asp556Asn), p.D556N), POMGNT1(NM_001243766.2):c.1666G>A (p.D556N), POMGNT1(NM_017739.3):c.1666G>A (p.D556N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46189973C>T"	""	"VUS"	""
"0000507735"	"0"	"30"	"1"	"46655645"	"46655645"	"subst"	"0.00991042"	"02325"	"POMGNT1_000035"	"g.46655645C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1666G>A (p.(Asp556Asn), p.D556N), POMGNT1(NM_001243766.2):c.1666G>A (p.D556N), POMGNT1(NM_017739.3):c.1666G>A (p.D556N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46189973C>T"	""	"likely benign"	""
"0000507736"	"0"	"10"	"1"	"46655645"	"46655645"	"subst"	"0.00991042"	"02326"	"POMGNT1_000035"	"g.46655645C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1666G>A (p.(Asp556Asn), p.D556N), POMGNT1(NM_001243766.2):c.1666G>A (p.D556N), POMGNT1(NM_017739.3):c.1666G>A (p.D556N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46189973C>T"	""	"benign"	""
"0000507737"	"0"	"50"	"1"	"46656462"	"46656462"	"subst"	"0.000125885"	"01804"	"LURAP1_000004"	"g.46656462G>A"	""	""	""	"POMGNT1(NM_001243766.1):c.1540-6C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46190790G>A"	""	"VUS"	""
"0000507738"	"0"	"10"	"1"	"46656472"	"46656472"	"subst"	"0.00596152"	"01943"	"POMGNT1_000071"	"g.46656472G>A"	""	""	""	"POMGNT1(NM_001243766.1):c.1540-16C>T (p.(=)), POMGNT1(NM_017739.3):c.1540-16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46190800G>A"	""	"benign"	""
"0000507739"	"0"	"70"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"01943"	"POMGNT1_000002"	"g.46657769C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1539+1G>A, POMGNT1(NM_001243766.2):c.1539+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46192097C>T"	""	"likely pathogenic"	""
"0000507741"	"0"	"30"	"1"	"46658217"	"46658217"	"subst"	"0.00895303"	"01804"	"POMGNT1_000168"	"g.46658217C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1257G>A (p.(Leu419=)), POMGNT1(NM_001243766.2):c.1257G>A (p.L419=), POMGNT1(NM_017739.3):c.1257G>A (p.L419=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46192545C>T"	""	"likely benign"	""
"0000507742"	"0"	"30"	"1"	"46658870"	"46658870"	"subst"	"0"	"01943"	"LURAP1_000006"	"g.46658870G>A"	""	""	""	"POMGNT1(NM_001243766.1):c.1128C>T (p.L376=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46193198G>A"	""	"likely benign"	""
"0000507744"	"0"	"10"	"1"	"46659302"	"46659302"	"subst"	"0.000121985"	"02330"	"LURAP1_000007"	"g.46659302G>C"	""	""	""	"POMGNT1(NM_001243766.1):c.960C>G (p.R320=), POMGNT1(NM_001243766.2):c.960C>G (p.R320=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46193630G>C"	""	"benign"	""
"0000507746"	"0"	"50"	"1"	"46659963"	"46659963"	"subst"	"8.12196E-6"	"01804"	"LURAP1_000008"	"g.46659963C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.862G>A (p.(Glu288Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46194291C>T"	""	"VUS"	""
"0000507747"	"0"	"90"	"1"	"46660532"	"46660532"	"subst"	"3.65586E-5"	"02325"	"POMGNT1_000030"	"g.46660532G>A"	""	""	""	"POMGNT1(NM_001243766.2):c.636C>T (p.F212=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46194860G>A"	""	"pathogenic"	""
"0000507748"	"0"	"70"	"1"	"46660538"	"46660538"	"subst"	"0"	"01943"	"POMGNT1_000050"	"g.46660538C>A"	""	""	""	"POMGNT1(NM_001243766.1):c.630G>T (p.W210C), POMGNT1(NM_001243766.2):c.630G>T (p.W210C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46194866C>A"	""	"likely pathogenic"	""
"0000507749"	"0"	"90"	"1"	"46660538"	"46660538"	"subst"	"0"	"02325"	"POMGNT1_000050"	"g.46660538C>A"	""	""	""	"POMGNT1(NM_001243766.1):c.630G>T (p.W210C), POMGNT1(NM_001243766.2):c.630G>T (p.W210C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46194866C>A"	""	"pathogenic"	""
"0000507750"	"0"	"30"	"1"	"46661717"	"46661717"	"subst"	"0"	"02330"	"LURAP1_000009"	"g.46661717C>T"	""	""	""	"POMGNT1(NM_001243766.2):c.387G>A (p.R129=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46196045C>T"	""	"likely benign"	""
"0000507751"	"0"	"30"	"1"	"46662456"	"46662456"	"subst"	"0.00313926"	"01943"	"POMGNT1_000192"	"g.46662456C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.301G>A (p.V101I), POMGNT1(NM_001243766.2):c.301G>A (p.V101I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46196784C>T"	""	"likely benign"	""
"0000507752"	"0"	"30"	"1"	"46662456"	"46662456"	"subst"	"0.00313926"	"02326"	"POMGNT1_000192"	"g.46662456C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.301G>A (p.V101I), POMGNT1(NM_001243766.2):c.301G>A (p.V101I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46196784C>T"	""	"likely benign"	""
"0000507756"	"0"	"30"	"1"	"46663361"	"46663361"	"subst"	"0.00461071"	"01804"	"POMGNT1_000182"	"g.46663361G>A"	""	""	""	"POMGNT1(NM_001243766.1):c.120+13C>T (p.(=)), POMGNT1(NM_001243766.2):c.120+13C>T, POMGNT1(NM_017739.3):c.120+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46197689G>A"	""	"likely benign"	""
"0000507757"	"0"	"10"	"1"	"46663504"	"46663504"	"subst"	"0.0043204"	"02330"	"POMGNT1_000040"	"g.46663504C>T"	""	""	""	"POMGNT1(NM_001243766.2):c.-11G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46197832C>T"	""	"benign"	""
"0000507758"	"0"	"30"	"1"	"46685716"	"46685716"	"subst"	"0"	"01804"	"LURAP1_000012"	"g.46685716A>G"	""	""	""	"LURAP1(NM_001013615.2):c.544A>G (p.(Arg182Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46220044A>G"	""	"likely benign"	""
"0000597783"	"1"	"90"	"1"	"46660532"	"46660532"	"subst"	"3.65586E-5"	"00006"	"POMGNT1_000030"	"g.46660532G>A"	""	"{PMID:Cummings 2017:28424332}"	""	""	"strong NMD for variant in muscle"	"Germline"	""	""	"0"	""	""	"g.46194860G>A"	""	"likely pathogenic"	""
"0000597816"	"2"	"90"	"1"	"46655129"	"46655129"	"subst"	"8.17514E-5"	"00006"	"POMGNT1_000024"	"g.46655129C>A"	""	"{PMID:Cummings 2017:28424332}"	""	""	"effect on splicing shown in SupFig.10C/D"	"Germline"	""	""	"0"	""	""	"g.46189457C>A"	""	"pathogenic"	""
"0000605811"	"0"	"30"	"1"	"46654437"	"46654437"	"subst"	"1.24656E-5"	"01943"	"LURAP1_000014"	"g.46654437C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.2201G>A (p.R734K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46188765C>T"	""	"likely benign"	""
"0000605812"	"0"	"30"	"1"	"46654964"	"46654964"	"subst"	"3.67897E-5"	"01943"	"LURAP1_000015"	"g.46654964G>A"	""	""	""	"POMGNT1(NM_017739.3):c.1961C>T (p.P654L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46189292G>A"	""	"likely benign"	""
"0000605813"	"0"	"30"	"1"	"46659302"	"46659302"	"subst"	"0.000121985"	"01943"	"LURAP1_000007"	"g.46659302G>C"	""	""	""	"POMGNT1(NM_001243766.1):c.960C>G (p.R320=), POMGNT1(NM_001243766.2):c.960C>G (p.R320=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46193630G>C"	""	"likely benign"	""
"0000605814"	"0"	"30"	"1"	"46660009"	"46660009"	"subst"	"0"	"01943"	"LURAP1_000016"	"g.46660009A>G"	""	""	""	"POMGNT1(NM_017739.3):c.816T>C (p.V272=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46194337A>G"	""	"likely benign"	""
"0000605815"	"0"	"50"	"1"	"46661685"	"46661685"	"subst"	"2.0315E-5"	"01943"	"LURAP1_000017"	"g.46661685G>A"	""	""	""	"POMGNT1(NM_017739.3):c.419C>T (p.T140M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46196013G>A"	""	"VUS"	""
"0000620655"	"0"	"70"	"1"	"46657879"	"46657880"	"del"	"0"	"01943"	"POMGNT1_000187"	"g.46657879_46657880del"	""	""	""	"POMGNT1(NM_001243766.1):c.1429_1430delAT (p.M477Vfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46192207_46192208del"	""	"likely pathogenic"	""
"0000620656"	"0"	"50"	"1"	"46659986"	"46659986"	"subst"	"0.000235525"	"01943"	"POMGNT1_000220"	"g.46659986C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.839G>A (p.S280N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46194314C>T"	""	"VUS"	""
"0000647726"	"1"	"30"	"1"	"46655645"	"46655645"	"subst"	"0.00991042"	"03575"	"POMGNT1_000035"	"g.46655645C>T"	"7/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"7 heterozygous, no homozygous; {DB:CLININrs74374973}"	"Germline"	""	"rs74374973"	"0"	""	""	"g.46189973C>T"	""	"likely benign"	""
"0000647727"	"1"	"70"	"1"	"46656145"	"46656145"	"subst"	"0"	"03575"	"POMGNT1_000003"	"g.46656145C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs193919335}"	"Germline"	""	"rs193919335"	"0"	""	""	"g.46190473C>T"	""	"likely pathogenic"	""
"0000647728"	"1"	"50"	"1"	"46660031"	"46660031"	"subst"	"3.65512E-5"	"03575"	"POMGNT1_000019"	"g.46660031C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs386834010}"	"Germline"	""	"rs386834010"	"0"	""	""	"g.46194359C>T"	""	"VUS"	""
"0000654055"	"0"	"30"	"1"	"46657799"	"46657799"	"subst"	"0.00102741"	"01943"	"POMGNT1_000058"	"g.46657799C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1510G>A (p.V504I), POMGNT1(NM_001243766.2):c.1510G>A (p.V504I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46192127C>T"	""	"likely benign"	""
"0000654056"	"0"	"50"	"1"	"46660618"	"46660618"	"subst"	"4.06461E-5"	"02327"	"LURAP1_000018"	"g.46660618G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46194946G>A"	""	"VUS"	""
"0000654057"	"0"	"50"	"1"	"46661556"	"46661556"	"subst"	"0"	"02327"	"LURAP1_000019"	"g.46661556G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46195884G>T"	""	"VUS"	""
"0000654058"	"0"	"10"	"1"	"46663034"	"46663034"	"subst"	"0"	"02330"	"LURAP1_000020"	"g.46663034T>C"	""	""	""	"POMGNT1(NM_001290129.2):c.-1A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.46197362T>C"	""	"benign"	""
"0000660430"	"1"	"90"	"1"	"46662690"	"46662690"	"subst"	"0"	"00006"	"POMGNT1_000009"	"g.46662690G>A"	"1/309 unresolved RP cases"	"{PMID:Xu 2016:26908613}, {PMID:Xu 2016:10.1093/hmg/ddw022}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.46197018G>A"	""	"pathogenic (recessive)"	""
"0000660431"	"2"	"90"	"1"	"46659965"	"46659965"	"subst"	"1.21829E-5"	"00006"	"POMGNT1_000250"	"g.46659965A>C"	"1/309 unresolved RP cases"	"{PMID:Xu 2016:26908613}, {PMID:Xu 2016:10.1093/hmg/ddw022}"	""	""	"variant in unaffected heterozygous carrier sister; cDNA expression cloning in HEK293T cells showed significantly reduced POMGNT1 enzymatic activity (0.10)"	"Germline"	"yes"	""	"0"	""	""	"g.46194293A>C"	""	"pathogenic (recessive)"	""
"0000660432"	"1"	"90"	"1"	"46662690"	"46662690"	"subst"	"0"	"00006"	"POMGNT1_000009"	"g.46662690G>A"	""	"{PMID:Xu 2016:26908613}, {PMID:Xu 2016:10.1093/hmg/ddw022}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.46197018G>A"	""	"pathogenic (recessive)"	""
"0000660433"	"2"	"90"	"1"	"46659965"	"46659965"	"subst"	"1.21829E-5"	"00006"	"POMGNT1_000250"	"g.46659965A>C"	""	"{PMID:Xu 2016:26908613}, {PMID:Xu 2016:10.1093/hmg/ddw022}"	""	""	"variant in unaffected heterozygous carrier sister; cDNA expression cloning in HEK293T cells showed significantly reduced (0.10) POMGNT1 enzymatic activity"	"Germline"	"yes"	""	"0"	""	""	"g.46194293A>C"	""	"pathogenic (recessive)"	""
"0000660452"	"3"	"90"	"1"	"46661551"	"46661551"	"subst"	"0"	"00006"	"POMGNT1_000251"	"g.46661551C>T"	""	"{PMID:Xu 2016:26908613}, {PMID:Xu 2016:10.1093/hmg/ddw022}"	""	""	"cDNA expression cloning in HEK293T cells showed significantly reduced (0.30) POMGNT1 enzymatic activity"	"Germline"	""	""	"0"	""	""	"g.46195879C>T"	""	"pathogenic (recessive)"	""
"0000660453"	"11"	"90"	"1"	"46655129"	"46655129"	"subst"	"8.17514E-6"	"00006"	"POMGNT1_000027"	"g.46655129C>T"	""	"{PMID:Xu 2016:26908613}, {PMID:Xu 2016:10.1093/hmg/ddw022}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189457C>T"	""	"pathogenic (recessive)"	""
"0000660454"	"21"	"90"	"1"	"46657804"	"46657804"	"subst"	"0"	"00006"	"POMGNT1_000252"	"g.46657804C>G"	""	"{PMID:Xu 2016:26908613}, {PMID:Xu 2016:10.1093/hmg/ddw022}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192132C>G"	""	"pathogenic (recessive)"	""
"0000668257"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Makrythanasis 2014:25044680}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000688196"	"0"	"30"	"1"	"46661603"	"46661603"	"subst"	"0.00052812"	"01943"	"POMGNT1_000231"	"g.46661603G>T"	""	""	""	"POMGNT1(NM_001243766.1):c.421-7C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717539"	"0"	"30"	"1"	"46654595"	"46654595"	"subst"	"3.7395E-5"	"01943"	"LURAP1_000021"	"g.46654595C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.2043G>A (p.P681=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717540"	"0"	"30"	"1"	"46658016"	"46658016"	"subst"	"4.06098E-6"	"01943"	"LURAP1_000022"	"g.46658016C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1377G>A (p.K459=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717541"	"0"	"30"	"1"	"46658114"	"46658114"	"subst"	"4.06398E-5"	"01943"	"LURAP1_000023"	"g.46658114G>A"	""	""	""	"POMGNT1(NM_001243766.1):c.1285-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717542"	"0"	"50"	"1"	"46662506"	"46662506"	"subst"	"4.46759E-5"	"01943"	"LURAP1_000024"	"g.46662506C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.251G>A (p.R84H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000733261"	"1"	"70"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00000"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Stone 2017:28559085}"	""	"IVS17+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"likely pathogenic"	""
"0000733664"	"2"	"70"	"1"	"46660546"	"46660546"	"subst"	"0"	"00000"	"POMGNT1_000253"	"g.46660546C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194874C>T"	""	"likely pathogenic"	""
"0000761013"	"3"	"70"	"1"	"46661718"	"46661718"	"subst"	"1.62566E-5"	"00006"	"POMGNT1_000254"	"g.46661718C>T"	""	"{PMID:Mohammadi 2021: 33175337}"	""	""	"ACMG PM1, PM2, PP2, PP3, PP4"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000786993"	"3"	"70"	"1"	"46660551"	"46660551"	"subst"	"4.06256E-6"	"00006"	"POMGNT1_000255"	"g.46660551C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194879C>T"	""	"likely pathogenic"	""
"0000799403"	"0"	"50"	"1"	"46655145"	"46655145"	"subst"	"0"	"01943"	"LURAP1_000025"	"g.46655145G>A"	""	""	""	"POMGNT1(NM_017739.3):c.1880C>T (p.P627L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799404"	"0"	"30"	"1"	"46658989"	"46658989"	"subst"	"0"	"01943"	"LURAP1_000026"	"g.46658989G>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1098C>A (p.A366=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799405"	"0"	"30"	"1"	"46662424"	"46662424"	"subst"	"0"	"01943"	"LURAP1_000027"	"g.46662424A>G"	""	""	""	"POMGNT1(NM_001243766.1):c.333T>C (p.Y111=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799406"	"0"	"50"	"1"	"46662482"	"46662482"	"subst"	"8.12216E-6"	"01943"	"POMGNT1_000178"	"g.46662482C>A"	""	""	""	"POMGNT1(NM_001243766.1):c.275G>T (p.G92V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000814273"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Chen 2020:31872526}"	""	"POMGNT1:NM_001290129:exon4:c.359T>G:p.L120R"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000814274"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Chen 2020:31872526}"	""	"POMGNT1:NM_001290129:exon4:c.359T>G:p.L120R"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000817888"	"3"	"70"	"1"	"46657796"	"46657796"	"subst"	"1.21832E-5"	"00006"	"POMGNT1_000149"	"g.46657796C>T"	""	"{PMID:Hu 2019:29302074}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192124C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000818620"	"0"	"70"	"1"	"46659252"	"46659252"	"dup"	"0"	"04186"	"POMGNT1_000018"	"g.46659252dup"	""	""	""	"1011dupT"	""	"Germline"	"yes"	""	"0"	""	""	"g.46193580dup"	""	"likely pathogenic"	"ACMG"
"0000818621"	"0"	"70"	"1"	"46658008"	"46658008"	"subst"	"0"	"04186"	"POMGNT1_000257"	"g.46658008A>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000818992"	"11"	"70"	"1"	"46655543"	"46655543"	"subst"	"0"	"04186"	"POMGNT1_000258"	"g.46655543A>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000818994"	"21"	"70"	"1"	"46659252"	"46659252"	"dup"	"0"	"04186"	"POMGNT1_000018"	"g.46659252dup"	""	""	""	"1011dupT"	""	"Germline"	"yes"	""	"0"	""	""	"g.46193580dup"	""	"likely pathogenic"	"ACMG"
"0000821038"	"1"	"90"	"1"	"46662453"	"46662453"	"subst"	"0"	"00006"	"POMGNT1_000272"	"g.46662453C>A"	""	"{PMID:Kritioti 2021:34324503}"	""	""	"ACMG PVS1, PM2, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.46196781C>A"	""	"pathogenic (recessive)"	"ACMG"
"0000821039"	"1"	"90"	"1"	"46662453"	"46662453"	"subst"	"0"	"00006"	"POMGNT1_000272"	"g.46662453C>A"	""	"{PMID:Kritioti 2021:34324503}"	""	""	"ACMG PVS1, PM2, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.46196781C>A"	""	"pathogenic (recessive)"	"ACMG"
"0000821049"	"2"	"70"	"1"	"46661719"	"46661719"	"subst"	"1.21928E-5"	"00006"	"POMGNT1_000271"	"g.46661719G>A"	""	"{PMID:Kritioti 2021:34324503}"	""	""	"ACMG PM1, PM2, PM3, PP2, PP3, PP4"	"Germline"	""	"rs375431575"	"0"	""	""	"g.46196047G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000821050"	"2"	"70"	"1"	"46661719"	"46661719"	"subst"	"1.21928E-5"	"00006"	"POMGNT1_000271"	"g.46661719G>A"	""	"{PMID:Kritioti 2021:34324503}"	""	""	"ACMG PM1, PM2, PM3, PP2, PP3, PP4"	"Germline"	""	"rs375431575"	"0"	""	""	"g.46196047G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000821068"	"3"	"90"	"1"	"46659542"	"46659542"	"subst"	"0"	"00006"	"POMGNT1_000266"	"g.46659542G>A"	""	"{PMID:Nissenkorn 2021:33413009}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46193870G>A"	""	"pathogenic (recessive)"	""
"0000821713"	"1"	"90"	"1"	"46658074"	"46658074"	"subst"	"0"	"00006"	"POMGNT1_000106"	"g.46658074A>C"	""	"{PMID:Song 2021:33200426}"	""	""	"enzyme activity, protein expression and subcellular localization assessed in HeLa cells"	"Germline"	""	""	"0"	""	""	"g.46192402A>C"	""	"pathogenic (recessive)"	""
"0000821714"	"3"	"90"	"1"	"46656144"	"46656457"	""	"0"	"00006"	"POMGNT1_000260"	"g.(46655662_46656144)_(46656457_46657769)del"	""	"{PMID:Song 2021:33200426}"	""	"del ex18-19"	""	"Germline"	""	""	"0"	""	""	"g.(46189990_46190472)_(46190785_46192097)del"	""	"pathogenic (recessive)"	""
"0000821715"	"1"	"90"	"1"	"46662461"	"46662461"	"subst"	"0"	"00006"	"POMGNT1_000156"	"g.46662461A>G"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46196789A>G"	""	"pathogenic (recessive)"	""
"0000821716"	"1"	"90"	"1"	"46660031"	"46660031"	"subst"	"0"	"00006"	"POMGNT1_000157"	"g.46660031C>G"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194359C>G"	""	"pathogenic (recessive)"	""
"0000821717"	"1"	"90"	"1"	"46662461"	"46662461"	"subst"	"0"	"00006"	"POMGNT1_000156"	"g.46662461A>G"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46196789A>G"	""	"pathogenic (recessive)"	""
"0000821718"	"1"	"90"	"1"	"46655026"	"46655026"	"subst"	"0"	"00006"	"POMGNT1_000263"	"g.46655026C>T"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189354C>T"	""	"pathogenic (recessive)"	""
"0000821719"	"1"	"90"	"1"	"46657884"	"46657884"	"subst"	"0"	"00006"	"POMGNT1_000265"	"g.46657884C>A"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192212C>A"	""	"pathogenic (recessive)"	""
"0000821720"	"1"	"90"	"1"	"46660031"	"46660031"	"subst"	"0"	"00006"	"POMGNT1_000157"	"g.46660031C>G"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194359C>G"	""	"pathogenic (recessive)"	""
"0000821721"	"1"	"90"	"1"	"46660031"	"46660031"	"subst"	"0"	"00006"	"POMGNT1_000157"	"g.46660031C>G"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194359C>G"	""	"pathogenic (recessive)"	""
"0000821722"	"1"	"90"	"1"	"46655238"	"46655238"	"subst"	"0"	"00006"	"POMGNT1_000264"	"g.46655238C>A"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189566C>A"	""	"pathogenic (recessive)"	""
"0000821723"	"1"	"90"	"1"	"46660593"	"46660593"	"subst"	"0"	"00006"	"POMGNT1_000150"	"g.46660593A>G"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194921A>G"	""	"pathogenic (recessive)"	""
"0000821724"	"1"	"90"	"1"	"46655211"	"46655211"	"subst"	"8.20883E-6"	"00006"	"POMGNT1_000124"	"g.46655211C>G"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46189539C>G"	""	"pathogenic (recessive)"	""
"0000821725"	"1"	"90"	"1"	"46660531"	"46660531"	"subst"	"1.21865E-5"	"00006"	"POMGNT1_000268"	"g.46660531C>T"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194859C>T"	""	"pathogenic (recessive)"	""
"0000821726"	"3"	"90"	"1"	"46660029"	"46660029"	"subst"	"0.000385818"	"00006"	"POMGNT1_000267"	"g.46660029G>A"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194357G>A"	""	"pathogenic (recessive)"	""
"0000821845"	"2"	"90"	"1"	"46659945"	"46661597"	"del"	"0"	"00006"	"POMGNT1_000262"	"g.(46659598_46659945)_(46661597_46661683)del"	""	"{PMID:Song 2021:33200426}"	""	"del ex6-9"	"enzyme activity, protein expression and subcellular localization assessed in HeLa cells"	"Germline"	""	""	"0"	""	""	"g.(46193926_46194273)_(46195925_46196011)del"	""	"pathogenic (recessive)"	""
"0000821846"	"2"	"90"	"1"	"46656144"	"46656457"	""	"0"	"00006"	"POMGNT1_000260"	"g.(46655662_46656144)_(46656457_46657769)del"	""	"{PMID:Song 2021:33200426}"	""	"del ex18-19"	""	"Germline"	""	""	"0"	""	""	"g.(46189990_46190472)_(46190785_46192097)del"	""	"pathogenic (recessive)"	""
"0000821847"	"2"	"90"	"1"	"46656144"	"46656457"	""	"0"	"00006"	"POMGNT1_000260"	"g.(46655662_46656144)_(46656457_46657769)del"	""	"{PMID:Song 2021:33200426}"	""	"del ex18-19"	""	"Germline"	""	""	"0"	""	""	"g.(46189990_46190472)_(46190785_46192097)del"	""	"pathogenic (recessive)"	""
"0000821848"	"2"	"90"	"1"	"46662690"	"46662690"	"subst"	"0"	"00006"	"POMGNT1_000009"	"g.46662690G>A"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46197018G>A"	""	"pathogenic (recessive)"	""
"0000821849"	"2"	"90"	"1"	"46658068"	"46658068"	"subst"	"1.62538E-5"	"00006"	"POMGNT1_000014"	"g.46658068C>T"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192396C>T"	""	"pathogenic (recessive)"	""
"0000821850"	"2"	"90"	"1"	"46660031"	"46660031"	"subst"	"0"	"00006"	"POMGNT1_000157"	"g.46660031C>G"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46194359C>G"	""	"pathogenic (recessive)"	""
"0000821851"	"2"	"90"	"1"	"46656144"	"46656190"	"del"	"0"	"00006"	"POMGNT1_000261"	"g.(46655662_46656144)_(46656190_46656391)del"	""	"{PMID:Song 2021:33200426}"	""	"del ex19"	""	"Germline"	""	""	"0"	""	""	"g.(46189990_46190472)_(46190518_46190719)del"	""	"pathogenic (recessive)"	""
"0000821852"	"2"	"90"	"1"	"46661506"	"46661506"	"subst"	"0"	"00006"	"POMGNT1_000270"	"g.46661506G>A"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46195834G>A"	""	"pathogenic (recessive)"	""
"0000821853"	"2"	"90"	"1"	"46660309"	"46660309"	"subst"	"0"	"00006"	"POMGNT1_000016"	"g.46660309C>T"	""	"{PMID:Song 2021:33200426}"	""	"667G>A;56G>A"	""	"Germline"	""	""	"0"	""	""	"g.46194637C>T"	""	"pathogenic (recessive)"	""
"0000821854"	"2"	"90"	"1"	"46658068"	"46658068"	"subst"	"0"	"00006"	"POMGNT1_000148"	"g.46658068C>A"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192396C>A"	""	"pathogenic (recessive)"	""
"0000821855"	"2"	"90"	"1"	"46657796"	"46657796"	"subst"	"1.21832E-5"	"00006"	"POMGNT1_000149"	"g.46657796C>T"	""	"{PMID:Song 2021:33200426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.46192124C>T"	""	"pathogenic (recessive)"	""
"0000821856"	"2"	"90"	"1"	"46661489"	"46661489"	"dup"	"0"	"00006"	"POMGNT1_000269"	"g.46661489dup"	""	"{PMID:Song 2021:33200426}"	""	"c.528dupT"	""	"Germline"	""	""	"0"	""	""	"g.46195817dup"	""	"pathogenic (recessive)"	""
"0000821917"	"2"	"50"	"1"	"46663438"	"46663438"	"subst"	"4.06098E-6"	"00006"	"POMGNT1_000259"	"g.46663438C>T"	""	"{PMID:Song 2021:33200426}"	""	"667G>A;56G>A"	""	"Germline"	""	""	"0"	""	""	"g.46197766C>T"	""	"VUS"	""
"0000824599"	"3"	"70"	"1"	"46658200"	"46658200"	"subst"	"4.06309E-6"	"04186"	"POMGNT1_000012"	"g.46658200C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000824602"	"3"	"70"	"1"	"46658200"	"46658200"	"subst"	"4.06309E-6"	"04186"	"POMGNT1_000012"	"g.46658200C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000827315"	"0"	"90"	"1"	"46662406"	"46662406"	"del"	"4.0622E-6"	"00000"	"POMGNT1_000075"	"g.46662406del"	""	"{PMID:Colombo-2020:33576794}"	""	"POMGNT1:c.351del"	""	"Germline"	""	"rs386834028"	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827316"	"0"	"70"	"1"	"46657894"	"46657894"	"subst"	"0"	"00000"	"POMGNT1_000273"	"g.46657894A>G"	""	"{PMID:Colombo-2020:33576794}"	""	"POMGNT1:c.1415T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000848759"	"0"	"50"	"1"	"46657826"	"46657826"	"subst"	"0"	"01943"	"LURAP1_000028"	"g.46657826C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1483G>A (p.V495I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848760"	"0"	"30"	"1"	"46661468"	"46661468"	"subst"	"9.87116E-5"	"02326"	"LURAP1_000029"	"g.46661468G>A"	""	""	""	"POMGNT1(NM_017739.3):c.534+15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857522"	"0"	"30"	"1"	"46656472"	"46656472"	"subst"	"0.00596152"	"01804"	"POMGNT1_000071"	"g.46656472G>A"	""	""	""	"POMGNT1(NM_001243766.1):c.1540-16C>T (p.(=)), POMGNT1(NM_017739.3):c.1540-16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857523"	"0"	"30"	"1"	"46657799"	"46657799"	"subst"	"0.00102741"	"02330"	"POMGNT1_000058"	"g.46657799C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1510G>A (p.V504I), POMGNT1(NM_001243766.2):c.1510G>A (p.V504I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857524"	"0"	"50"	"1"	"46662506"	"46662506"	"subst"	"2.03072E-5"	"01804"	"LURAP1_000030"	"g.46662506C>A"	""	""	""	"POMGNT1(NM_001243766.1):c.251G>T (p.(Arg84Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000868657"	"3"	"70"	"1"	"45862062"	"46510920"	"dup"	"0"	"00000"	"MMACHC_000047"	"g.45862062_46510920dup"	""	"{PMID:Hanemaaijer 2009:19452620}"	""	"POMGNT1"	"heterozygous, both parents wild type; t(2;14)(q37.3;q13) with duplication in chromosome 1p34.1"	"De novo"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000868658"	"1"	"70"	"1"	"46660574"	"46660574"	"subst"	"0"	"00000"	"POMGNT1_000137"	"g.46660574G>C"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 S198R"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46194902G>C"	""	"likely pathogenic"	""
"0000868659"	"2"	"70"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00000"	"POMGNT1_000022"	"g.46657840C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 C490Y"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192168C>T"	""	"likely pathogenic"	""
"0000868660"	"1"	"70"	"1"	"46660309"	"46660309"	"subst"	"0"	"00000"	"POMGNT1_000016"	"g.46660309C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 E223K"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46194637C>T"	""	"likely pathogenic"	""
"0000868661"	"2"	"70"	"1"	"46661572"	"46661572"	"del"	"0"	"00000"	"POMGNT1_000015"	"g.46661572del"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 Phe149 frameshift 167 stop"	"probably c.447del (reference Taniguchi et al., 2007); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46195900del"	""	"likely pathogenic"	""
"0000868662"	"1"	"70"	"1"	"46660309"	"46660309"	"subst"	"0"	"00000"	"POMGNT1_000016"	"g.46660309C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 E223K"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46194637C>T"	""	"likely pathogenic"	""
"0000868663"	"2"	"70"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00000"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 mutation in intron 17"	"probably c.1539+1G>A (IVS17+1G>A reference Taniguchi et al., 2007); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192097C>T"	""	"likely pathogenic"	""
"0000868664"	"1"	"70"	"1"	"46660019"	"46660019"	"subst"	"0"	"00000"	"POMGNT1_000048"	"g.46660019C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 C269Y"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46194347C>T"	""	"likely pathogenic"	""
"0000868665"	"2"	"70"	"1"	"46659284"	"46659284"	"dup"	"0"	"00000"	"POMGNT1_000017"	"g.46659284dup"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 Val328 frameshift 338 stop"	"probably c.447del (reference Taniguchi et al., 2007); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46193612dup"	""	"likely pathogenic"	""
"0000868666"	"1"	"70"	"1"	"46660031"	"46660031"	"subst"	"3.65512E-5"	"00000"	"POMGNT1_000019"	"g.46660031C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R265H"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46194359C>T"	""	"likely pathogenic"	""
"0000868667"	"1"	"70"	"1"	"46659545"	"46659545"	"subst"	"1.62514E-5"	"00000"	"POMGNT1_000008"	"g.46659545C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R311Q"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46193873C>T"	""	"likely pathogenic"	""
"0000868668"	"2"	"70"	"1"	"46658069"	"46658069"	"subst"	"0"	"00000"	"POMGNT1_000007"	"g.46658069G>A"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R442C"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192397G>A"	""	"likely pathogenic"	""
"0000868669"	"1"	"70"	"1"	"46660031"	"46660031"	"subst"	"3.65512E-5"	"00000"	"POMGNT1_000019"	"g.46660031C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R265H"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46194359C>T"	""	"likely pathogenic"	""
"0000868670"	"1"	"70"	"1"	"46659545"	"46659545"	"subst"	"1.62514E-5"	"00000"	"POMGNT1_000008"	"g.46659545C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R311Q"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46193873C>T"	""	"likely pathogenic"	""
"0000868671"	"2"	"70"	"1"	"46658069"	"46658069"	"subst"	"0"	"00000"	"POMGNT1_000007"	"g.46658069G>A"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R442C"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192397G>A"	""	"likely pathogenic"	""
"0000868672"	"1"	"70"	"1"	"46660031"	"46660031"	"subst"	"3.65512E-5"	"00000"	"POMGNT1_000019"	"g.46660031C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R265H"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46194359C>T"	""	"likely pathogenic"	""
"0000868673"	"1"	"70"	"1"	"46659545"	"46659545"	"subst"	"1.62514E-5"	"00000"	"POMGNT1_000008"	"g.46659545C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R311Q"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46193873C>T"	""	"likely pathogenic"	""
"0000868674"	"2"	"70"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00000"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R605H"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46189539C>T"	""	"likely pathogenic"	""
"0000868675"	"1"	"70"	"1"	"46658200"	"46658200"	"subst"	"4.06309E-6"	"00000"	"POMGNT1_000012"	"g.46658200C>G"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 W425S"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192528C>G"	""	"likely pathogenic"	""
"0000868676"	"2"	"70"	"1"	"46655126"	"46655129"	"del"	"0"	"00000"	"POMGNT1_000013"	"g.46655126_46655129del"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 mutation in intron 21"	"probably c.1895+5_1895+8del (reference Diesen et al., 2004); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46189454_46189457del"	""	"likely pathogenic"	""
"0000868677"	"3"	"70"	"1"	"46658069"	"46658069"	"subst"	"0"	"00000"	"POMGNT1_000007"	"g.46658069G>A"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R442C"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192397G>A"	""	"likely pathogenic"	""
"0000868678"	"3"	"70"	"1"	"46658069"	"46658069"	"subst"	"0"	"00000"	"POMGNT1_000007"	"g.46658069G>A"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R442C"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192397G>A"	""	"likely pathogenic"	""
"0000868679"	"3"	"70"	"1"	"46658069"	"46658069"	"subst"	"0"	"00000"	"POMGNT1_000007"	"g.46658069G>A"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R442C"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192397G>A"	""	"likely pathogenic"	""
"0000868680"	"1"	"70"	"1"	"46658069"	"46658069"	"subst"	"0"	"00000"	"POMGNT1_000007"	"g.46658069G>A"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R442C"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192397G>A"	""	"likely pathogenic"	""
"0000868681"	"2"	"70"	"1"	"46658068"	"46658068"	"subst"	"1.62538E-5"	"00000"	"POMGNT1_000014"	"g.46658068C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R442H"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192396C>T"	""	"likely pathogenic"	""
"0000868682"	"1"	"70"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00000"	"POMGNT1_000022"	"g.46657840C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 C490Y"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192168C>T"	""	"likely pathogenic"	""
"0000868683"	"2"	"70"	"1"	"46660515"	"46660515"	"subst"	"4.06233E-6"	"00000"	"POMGNT1_000044"	"g.46660515C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 mutation in intron 7"	"probably c.652+1G>A (reference Godfrey et al.. 2007); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46194843C>T"	""	"likely pathogenic"	""
"0000868684"	"3"	"70"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00000"	"POMGNT1_000022"	"g.46657840C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 C490Y"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192168C>T"	""	"likely pathogenic"	""
"0000868685"	"1"	"70"	"1"	"46657831"	"46657831"	"subst"	"0"	"00000"	"POMGNT1_000005"	"g.46657831G>C"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 P493R"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192159G>C"	""	"likely pathogenic"	""
"0000868686"	"2"	"70"	"1"	"46655153"	"46655153"	"del"	"0"	"00000"	"POMGNT1_000006"	"g.46655153del"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 Val262 frameshift 633 stop"	"error in citation, Val262 should be Val626 (reference: Yoshida et al., 2001); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46189481del"	""	"likely pathogenic"	""
"0000868687"	"1"	"70"	"1"	"46655542"	"46655542"	"subst"	"4.0855E-6"	"00000"	"POMGNT1_000023"	"g.46655542C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 Trp590  stop"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46189870C>T"	""	"likely pathogenic"	""
"0000868688"	"2"	"70"	"1"	"46657840"	"46657840"	"subst"	"1.62425E-5"	"00000"	"POMGNT1_000022"	"g.46657840C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 C490Y"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192168C>T"	""	"likely pathogenic"	""
"0000868689"	"1"	"70"	"1"	"46655573"	"46655573"	"subst"	"8.14764E-6"	"00000"	"POMGNT1_000055"	"g.46655573G>A"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 Arg580 stop"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46189901G>A"	""	"likely pathogenic"	""
"0000868690"	"2"	"70"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00000"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R605H"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46189539C>T"	""	"likely pathogenic"	""
"0000868691"	"3"	"70"	"1"	"46655211"	"46655211"	"subst"	"1.64177E-5"	"00000"	"POMGNT1_000031"	"g.46655211C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 R605H"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46189539C>T"	""	"likely pathogenic"	""
"0000868692"	"3"	"70"	"1"	"46655645"	"46655645"	"subst"	"0.00991042"	"00000"	"POMGNT1_000035"	"g.46655645C>T"	""	"{PMID:Voglmeir 2011:21361872}"	""	"POMGNT1 D556N"	"protein concentrations of the expressed mutant rPOMGnT1 protein diminished; homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46189973C>T"	""	"likely pathogenic"	""
"0000868694"	"3"	"70"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00000"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Hoang 2011:21403000}"	""	"c1539+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"likely pathogenic (recessive)"	""
"0000868703"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868704"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868705"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868706"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868707"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868708"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868709"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868710"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868711"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868712"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868713"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868714"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868715"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868716"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868717"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868718"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868719"	"3"	"70"	"1"	"46661745"	"46661745"	"subst"	"0"	"00000"	"POMGNT1_000256"	"g.46661745A>C"	""	"{PMID:Wang 2016:27391550}"	""	"POMGNT1 c.359T>G, p.Leu120Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196073A>C"	""	"likely pathogenic"	""
"0000868723"	"3"	"70"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00000"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Arvio 2019:31580529}"	""	"POMGNT1  c.1539 + 1G?A (p.Leu472_His513del) - Finnish founder mutation"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46192097C>T"	""	"likely pathogenic"	""
"0000868724"	"3"	"70"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00000"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Arvio 2019:31580529}"	""	"POMGNT1  c.1539 + 1G?A (p.Leu472_His513del) - Finnish founder mutation"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46192097C>T"	""	"likely pathogenic"	""
"0000868726"	"11"	"70"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00000"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Borisovna 2019:30961548}"	""	"POMGNT1  c.1539 + 1G?A (p.Leu472_His513del)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46192097C>T"	""	"likely pathogenic"	""
"0000868727"	"21"	"70"	"1"	"46661719"	"46661719"	"subst"	"1.21928E-5"	"00000"	"POMGNT1_000271"	"g.46661719G>A"	""	"{PMID:Borisovna 2019:30961548}"	""	"POMGNT1  c.385C > T (p.Arg129Trp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.46196047G>A"	""	"likely pathogenic"	""
"0000868728"	"0"	"70"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00000"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Peiris 2018:29555514}"	""	"POMGNT1  c.1539 + 1G>A (p.Leu472_His513del)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46192097C>T"	""	"likely pathogenic"	""
"0000868729"	"0"	"70"	"1"	"46655129"	"46655129"	"subst"	"8.17514E-5"	"00000"	"POMGNT1_000024"	"g.46655129C>A"	""	"{PMID:Peiris 2018:29555514}"	""	"POMGNT1 c.1895+1G>T"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.46189457C>A"	""	"likely pathogenic"	""
"0000883484"	"0"	"30"	"1"	"46658095"	"46658095"	"subst"	"0.00404829"	"02326"	"LURAP1_000031"	"g.46658095G>A"	""	""	""	"POMGNT1(NM_017739.3):c.1298C>T (p.T433M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883485"	"0"	"30"	"1"	"46663361"	"46663361"	"subst"	"0.00461071"	"02326"	"POMGNT1_000182"	"g.46663361G>A"	""	""	""	"POMGNT1(NM_001243766.1):c.120+13C>T (p.(=)), POMGNT1(NM_001243766.2):c.120+13C>T, POMGNT1(NM_017739.3):c.120+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000905870"	"0"	"50"	"1"	"46662513"	"46662513"	"subst"	"0"	"00000"	"POMGNT1_000274"	"g.46662513G>C"	""	"{PMID:Zhu 2022:35456422}"	""	"POMGNT1 c.244C>G, p.(Leu82Val)"	"heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.46196841G>C"	""	"VUS"	"ACMG"
"0000916582"	"1"	"90"	"1"	"46662690"	"46662690"	"subst"	"0"	"04436"	"POMGNT1_000009"	"g.46662690G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.187C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916583"	"2"	"50"	"1"	"46659965"	"46659965"	"subst"	"1.21829E-5"	"04436"	"POMGNT1_000250"	"g.46659965A>C"	""	"{PMID:Panneman 2023:36819107}"	""	"c.860T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000917105"	"3"	"90"	"1"	"46660525"	"46660525"	"subst"	"2.03113E-5"	"00006"	"POMGNT1_000139"	"g.46660525G>A"	""	"{PMID:Cavdarli 2023:36575883}"	""	""	"ACMG PVS1 PM2 PP5 "	"Germline"	""	"rs386834034"	"0"	""	""	"g.46194853G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000920647"	"3"	"90"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"00006"	"POMGNT1_000002"	"g.46657769C>T"	""	"{PMID:Jacquemin 2023:36859317}"	""	""	"ACMG PVS1, PM2"	"Germline"	""	""	"0"	""	""	"g.46192097C>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000936110"	"3"	"90"	"1"	"46660525"	"46660525"	"subst"	"2.03113E-5"	"00006"	"POMGNT1_000139"	"g.46660525G>A"	""	"{PMID:Cavdarli 2023:36575883}"	""	""	"ACMG PVS1 PM2 PP5 "	"Germline"	""	"rs386834034"	"0"	""	""	"g.46194853G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000947264"	"0"	"50"	"1"	"46656144"	"46656144"	"subst"	"1.62422E-5"	"02327"	"LURAP1_000032"	"g.46656144C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000947265"	"0"	"50"	"1"	"46657984"	"46657984"	"subst"	"3.65458E-5"	"02327"	"LURAP1_000033"	"g.46657984T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000947266"	"0"	"10"	"1"	"46662456"	"46662456"	"subst"	"0.00313926"	"02330"	"POMGNT1_000192"	"g.46662456C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.301G>A (p.V101I), POMGNT1(NM_001243766.2):c.301G>A (p.V101I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000959066"	"0"	"90"	"1"	"46657820"	"46657820"	"subst"	"1.21833E-5"	"00006"	"POMGNT1_000244"	"g.46657820G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PVS1, PM2, PP5; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.46192148G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000961076"	"0"	"30"	"1"	"46654908"	"46654908"	"subst"	"0.00103675"	"01804"	"LURAP1_000034"	"g.46654908C>T"	""	""	""	"POMGNT1(NM_001243766.1):c.1985+6G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974016"	"0"	"30"	"1"	"46658564"	"46658564"	"subst"	"0"	"02330"	"LURAP1_000035"	"g.46658564C>A"	""	""	""	"POMGNT1(NM_001243766.2):c.1211+8G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974017"	"0"	"50"	"1"	"46663421"	"46663421"	"subst"	"0"	"01804"	"LURAP1_000036"	"g.46663421A>C"	""	""	""	"POMGNT1(NM_017739.4):c.73T>G (p.(Trp25Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991323"	"0"	"50"	"1"	"46658626"	"46658626"	"subst"	"0"	"01804"	"LURAP1_000037"	"g.46658626G>C"	""	""	""	"POMGNT1(NM_017739.3):c.1157C>G (p.(Ala386Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001016524"	"0"	"50"	"1"	"46662506"	"46662506"	"subst"	"2.03072E-5"	"03779"	"LURAP1_000030"	"g.46662506C>A"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs373866304"	"0"	""	""	""	""	"VUS"	""
"0001016525"	"0"	"70"	"1"	"46657769"	"46657769"	"subst"	"0.000625686"	"03779"	"POMGNT1_000002"	"g.46657769C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs138642840"	"0"	""	""	""	""	"likely pathogenic"	""
"0001032102"	"0"	"90"	"1"	"46655129"	"46655129"	"subst"	"8.17514E-6"	"01804"	"POMGNT1_000027"	"g.46655129C>T"	""	""	""	"POMGNT1(NM_017739.4):c.1895+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001032103"	"0"	"50"	"1"	"46660014"	"46660014"	"subst"	"0"	"01804"	"LURAP1_000038"	"g.46660014T>C"	""	""	""	"POMGNT1(NM_017739.4):c.811A>G (p.(Lys271Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032104"	"0"	"70"	"1"	"46660051"	"46660052"	"del"	"0"	"01804"	"LURAP1_000039"	"g.46660051_46660052del"	""	""	""	"POMGNT1(NM_017739.4):c.776_777del (p.(Thr259Argfs*14))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001032105"	"0"	"30"	"1"	"46662984"	"46662984"	"subst"	"0"	"01804"	"LURAP1_000040"	"g.46662984T>C"	""	""	""	"POMGNT1(NM_001290129.2):c.50A>G (p.(His17Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032106"	"0"	"30"	"1"	"46685377"	"46685377"	"subst"	"8.90274E-6"	"01804"	"LURAP1_000041"	"g.46685377C>T"	""	""	""	"POMGNT1(NM_001243766.2):c.-51G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001050105"	"0"	"50"	"1"	"46657853"	"46657853"	"subst"	"8.1211E-6"	"02327"	"POMGNT1_000163"	"g.46657853G>C"	""	""	""	"POMGNT1(NM_017739.3):c.1456C>G (p.R486G)"	"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 POMGNT1
## Count = 825
"{{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}}"
"0000000129"	"00025467"	"50"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000000129"	"00025256"	"00"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000000130"	"00025467"	"50"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000000130"	"00025256"	"00"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000017038"	"00025467"	"70"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	""
"0000017038"	"00025256"	"70"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	"9"
"0000017039"	"00025467"	"70"	"1100"	"0"	"1100"	"0"	"c.1100G>A"	"r.(?)"	"p.(Arg367His)"	""
"0000017039"	"00025256"	"70"	"1100"	"0"	"1100"	"0"	"c.1100G>A"	"r.(?)"	"p.(Arg367His)"	"12"
"0000017040"	"00025467"	"70"	"1274"	"0"	"1274"	"0"	"c.1274G>C"	"r.(?)"	"p.(Trp425Ser)"	""
"0000017040"	"00025256"	"70"	"1274"	"0"	"1274"	"0"	"c.1274G>C"	"r.(?)"	"p.(Trp425Ser)"	"15"
"0000017041"	"00025467"	"70"	"1285"	"-2"	"1285"	"-2"	"c.1285-2A>G"	"r.spl?"	"p.?"	""
"0000017041"	"00025256"	"70"	"1285"	"-2"	"1285"	"-2"	"c.1285-2A>G"	"r.spl"	"p.Gln428_Gly429insVGWNDQGLAGEFMRPQLIPPTMAPCPR"	"15i"
"0000017043"	"00025467"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000017043"	"00025256"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	"16"
"0000017044"	"00025467"	"90"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.(?)"	"p.(Arg442His)"	""
"0000017044"	"00025256"	"90"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.(?)"	"p.(Arg442His)"	"16"
"0000017045"	"00025467"	"70"	"1342"	"0"	"1342"	"0"	"c.1342G>C"	"r.(?)"	"p.(Gly448Arg)"	""
"0000017045"	"00025256"	"70"	"1342"	"0"	"1342"	"0"	"c.1342G>C"	"r.(?)"	"p.(Gly448Arg)"	"16"
"0000017046"	"00025467"	"70"	"1350"	"0"	"1354"	"0"	"c.1350_1354del"	"r.(?)"	"p.(Trp451Alafs*11)"	""
"0000017046"	"00025256"	"70"	"1350"	"0"	"1354"	"0"	"c.1350_1354del"	"r.(?)"	"p.(Trp451Alafs*11)"	"16"
"0000017047"	"00025467"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	""
"0000017047"	"00025256"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	""
"0000017048"	"00025467"	"70"	"1478"	"0"	"1478"	"0"	"c.1478C>G"	"r.(?)"	"p.(Pro493Arg)"	""
"0000017048"	"00025256"	"70"	"1478"	"0"	"1478"	"0"	"c.1478C>G"	"r.(?)"	"p.(Pro493Arg)"	"17"
"0000017049"	"00025467"	"90"	"0"	"0"	"0"	"0"	"c.1539+184_*589{0}"	"r.?"	"p.?"	"17i_22_"
"0000017049"	"00025256"	"90"	"0"	"0"	"0"	"0"	"c.1539+184_*38{0}"	"r.?"	"p.?"	"17i_23_"
"0000017050"	"00025467"	"90"	"0"	"0"	"0"	"0"	"c.1539+261_*589{0}"	"r.?"	"p.?"	"17i_22_"
"0000017050"	"00025256"	"90"	"0"	"0"	"0"	"0"	"c.1539+261_*38{0}"	"r.?"	"p.?"	"17i_23_"
"0000017051"	"00025467"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	""
"0000017051"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000017052"	"00025467"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>T"	"r.spl?"	"p.?"	""
"0000017052"	"00025256"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>T"	"r.spl"	"p.?"	"17i"
"0000017053"	"00025467"	"70"	"1540"	"-2"	"1540"	"-2"	"c.1540-2A>G"	"r.spl"	"p.?"	""
"0000017053"	"00025256"	"70"	"1540"	"-2"	"1540"	"-2"	"c.1540-2A>G"	"r.spl"	"p.?"	"17i"
"0000017054"	"00025467"	"70"	"1649"	"0"	"1649"	"0"	"c.1649G>A"	"r.(?)"	"p.(Ser550Asn)"	""
"0000017054"	"00025256"	"70"	"1649"	"0"	"1649"	"0"	"c.1649G>A"	"r.(?)"	"p.(Ser550Asn)"	"19"
"0000017055"	"00025467"	"70"	"1719"	"0"	"1719"	"0"	"c.1719del"	"r.(?)"	"p.(His573Glnfs*50)"	""
"0000017055"	"00025256"	"70"	"1719"	"0"	"1719"	"0"	"c.1719del"	"r.(?)"	"p.(His573Glnfs*50)"	"20"
"0000017056"	"00025467"	"70"	"1738"	"0"	"1738"	"0"	"c.1738C>T"	"r.(?)"	"p.(Arg580*)"	""
"0000017056"	"00025256"	"70"	"1738"	"0"	"1738"	"0"	"c.1738C>T"	"r.(?)"	"p.(Arg580*)"	"20"
"0000017057"	"00025467"	"70"	"1769"	"0"	"1769"	"0"	"c.1769G>A"	"r.(?)"	"p.(Trp590*)"	""
"0000017057"	"00025256"	"70"	"1769"	"0"	"1769"	"0"	"c.1769G>A"	"r.(?)"	"p.(Trp590*)"	"20"
"0000017058"	"00025467"	"70"	"1785"	"2"	"1785"	"2"	"c.1785+2T>G"	"r.spl"	"p.?"	""
"0000017058"	"00025256"	"70"	"1785"	"2"	"1785"	"2"	"c.1785+2T>G"	"r.spl"	"p.?"	"20i"
"0000017059"	"00025467"	"70"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000017059"	"00025256"	"70"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000017060"	"00025467"	"70"	"1814"	"0"	"1814"	"0"	"c.1814G>C"	"r.(?)"	"p.(Arg605Pro)"	""
"0000017060"	"00025256"	"70"	"1814"	"0"	"1814"	"0"	"c.1814G>C"	"r.(?)"	"p.(Arg605Pro)"	""
"0000017062"	"00025467"	"70"	"1876"	"0"	"1876"	"0"	"c.1876del"	"r.(?)"	"p.(Val626SerfsTer8)"	""
"0000017062"	"00025256"	"70"	"1869"	"7"	"1869"	"7"	"c.1869+7del"	"r.(?)"	"p.?"	"21i"
"0000017063"	"00025467"	"70"	"1895"	"5"	"1895"	"8"	"c.1895+5_1895+8del"	"r.spl"	"p.?"	"21i"
"0000017063"	"00025256"	"70"	"1869"	"31"	"1869"	"34"	"c.1869+31_1869+34del"	"r.spl"	"p.?"	"21i"
"0000017064"	"00025467"	"70"	"1895"	"1"	"1895"	"1"	"c.1895+1G>A"	"r.spl"	"p.?"	"21i"
"0000017064"	"00025256"	"70"	"1869"	"27"	"1869"	"27"	"c.1869+27G>A"	"r.spl"	"p.?"	"21i"
"0000017065"	"00025467"	"70"	"1895"	"1"	"1895"	"1"	"c.1895+1G>T"	"r.spl"	"p.?"	"21i"
"0000017065"	"00025256"	"70"	"1869"	"27"	"1869"	"27"	"c.1869+27G>T"	"r.spl"	"p.?"	"21i"
"0000017073"	"00025467"	"70"	"594"	"0"	"594"	"0"	"c.594C>G"	"r.(?)"	"p.(Ser198Arg)"	""
"0000017073"	"00025256"	"70"	"594"	"0"	"594"	"0"	"c.594C>G"	"r.(?)"	"p.(Ser198Arg)"	""
"0000017074"	"00025467"	"70"	"636"	"0"	"636"	"0"	"c.636C>T"	"r.spl"	"p.?"	""
"0000017074"	"00025256"	"70"	"636"	"0"	"636"	"0"	"c.636C>T"	"r.spl"	"p.(Phe212=)"	"7"
"0000017076"	"00025467"	"70"	"652"	"1"	"652"	"1"	"c.652+1G>A"	"r.spl"	"p.?"	""
"0000017076"	"00025256"	"70"	"652"	"1"	"652"	"1"	"c.652+1G>A"	"r.spl"	"p.?"	"7i"
"0000017078"	"00025467"	"70"	"806"	"0"	"806"	"0"	"c.806G>A"	"r.(?)"	"p.(Cys269Tyr)"	""
"0000017078"	"00025256"	"70"	"806"	"0"	"806"	"0"	"c.806G>A"	"r.(?)"	"p.(Cys269Tyr)"	"9"
"0000017079"	"00025467"	"70"	"879"	"5"	"879"	"5"	"c.879+5G>A"	"r.spl?"	"p.?"	""
"0000017079"	"00025256"	"70"	"879"	"5"	"879"	"5"	"c.879+5G>A"	"r.spl"	"p.?"	"9i"
"0000017080"	"00025467"	"70"	"879"	"5"	"879"	"5"	"c.879+5G>T"	"r.spl?"	"p.?"	""
"0000017080"	"00025256"	"70"	"879"	"5"	"879"	"5"	"c.879+5G>T"	"r.spl"	"p.?"	"9i"
"0000017081"	"00025467"	"70"	"931"	"0"	"931"	"0"	"c.931C>T"	"r.(?)"	"p.(Arg311*)"	""
"0000017081"	"00025256"	"70"	"931"	"0"	"931"	"0"	"c.931C>T"	"r.(?)"	"p.(Arg311*)"	"10"
"0000017957"	"00025467"	"30"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000017957"	"00025256"	"30"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"10"
"0000020877"	"00025467"	"70"	"1011"	"0"	"1011"	"0"	"c.1011dup"	"r.(?)"	"p.(Asp338*)"	""
"0000020877"	"00025256"	"70"	"1011"	"0"	"1011"	"0"	"c.1011dup"	"r.(?)"	"p.(Asp338*)"	"11"
"0000020878"	"00025467"	"70"	"1385"	"0"	"1385"	"0"	"c.1385T>A"	"r.(?)"	"p.(Leu462His)"	""
"0000020878"	"00025256"	"70"	"1385"	"0"	"1385"	"0"	"c.1385T>A"	"r.(?)"	"p.(Leu462His)"	"16"
"0000036143"	"00025467"	"70"	"1545"	"0"	"1545"	"0"	"c.1545del"	"r.(?)"	"p.(Tyr516Thrfs*21)"	""
"0000036143"	"00025256"	"70"	"1545"	"0"	"1545"	"0"	"c.1545del"	"r.(?)"	"p.(Tyr516Thrfs*21)"	"18"
"0000039759"	"00025467"	"70"	"703"	"0"	"703"	"0"	"c.703G>C"	"r.(?)"	"p.(Gly235Arg)"	""
"0000039759"	"00025256"	"70"	"703"	"0"	"703"	"0"	"c.703G>C"	"r.(?)"	"p.(Gly235Arg)"	"8"
"0000039760"	"00025467"	"70"	"1785"	"1"	"1785"	"1"	"c.1785+1G>A"	"r.spl"	"p.?"	""
"0000039760"	"00025256"	"70"	"1785"	"1"	"1785"	"1"	"c.1785+1G>A"	"r.spl"	"p.?"	"20i"
"0000154171"	"00025467"	"90"	"1539"	"358"	"1650"	"-162"	"c.1539+358_1650-162del"	"r.(?)"	"p.(Glu514*)"	""
"0000154171"	"00025256"	"90"	"1539"	"358"	"1650"	"-162"	"c.1539+358_1650-162del"	"r.(?)"	"p.(Glu514*)"	"17i_19i"
"0000154172"	"00025467"	"90"	"1539"	"358"	"1650"	"-162"	"c.1539+358_1650-162del"	"r.(?)"	"p.(Glu514*)"	""
"0000154172"	"00025256"	"90"	"1539"	"358"	"1650"	"-162"	"c.1539+358_1650-162del"	"r.(?)"	"p.(Glu514*)"	"17i_19i"
"0000154174"	"00025467"	"90"	"794"	"0"	"794"	"0"	"c.794G>C"	"r.(?)"	"p.(Arg265Pro)"	""
"0000154174"	"00025256"	"90"	"794"	"0"	"794"	"0"	"c.794G>C"	"r.(?)"	"p.(Arg265Pro)"	""
"0000245512"	"00025467"	"10"	"1212"	"-66"	"1212"	"-66"	"c.1212-66T>C"	"r.(=)"	"p.(=)"	""
"0000245512"	"00025256"	"10"	"1212"	"-66"	"1212"	"-66"	"c.1212-66T>C"	"r.(=)"	"p.(=)"	""
"0000253742"	"00025467"	"10"	"1896"	"-19"	"1896"	"-19"	"c.1896-19T>C"	"r.(=)"	"p.(=)"	""
"0000253742"	"00025256"	"10"	"1870"	"-19"	"1870"	"-19"	"c.1870-19T>C"	"r.(=)"	"p.(=)"	""
"0000255189"	"00025467"	"30"	"653"	"-9"	"653"	"-9"	"c.653-9T>C"	"r.(=)"	"p.(=)"	""
"0000255189"	"00025256"	"30"	"653"	"-9"	"653"	"-9"	"c.653-9T>C"	"r.(=)"	"p.(=)"	""
"0000255190"	"00025467"	"30"	"236"	"-13"	"236"	"-13"	"c.236-13T>C"	"r.(=)"	"p.(=)"	""
"0000255190"	"00025256"	"30"	"236"	"-13"	"236"	"-13"	"c.236-13T>C"	"r.(=)"	"p.(=)"	""
"0000255942"	"00025467"	"50"	"38"	"0"	"38"	"0"	"c.38T>C"	"r.(?)"	"p.(Phe13Ser)"	""
"0000255942"	"00025256"	"50"	"38"	"0"	"38"	"0"	"c.38T>C"	"r.(?)"	"p.(Phe13Ser)"	""
"0000294219"	"00025467"	"10"	"1027"	"-44"	"1027"	"-44"	"c.1027-44A>G"	"r.(=)"	"p.(=)"	""
"0000294219"	"00025256"	"10"	"1027"	"-44"	"1027"	"-44"	"c.1027-44A>G"	"r.(=)"	"p.(=)"	""
"0000294221"	"00025467"	"30"	"120"	"13"	"120"	"13"	"c.120+13C>T"	"r.(=)"	"p.(=)"	""
"0000294221"	"00025256"	"30"	"120"	"13"	"120"	"13"	"c.120+13C>T"	"r.(=)"	"p.(=)"	""
"0000294222"	"00025467"	"10"	"1257"	"0"	"1257"	"0"	"c.1257G>A"	"r.(?)"	"p.(Leu419=)"	""
"0000294222"	"00025256"	"10"	"1257"	"0"	"1257"	"0"	"c.1257G>A"	"r.(?)"	"p.(Leu419=)"	""
"0000294223"	"00025467"	"10"	"1867"	"0"	"1867"	"0"	"c.1867="	"r.(=)"	"p.(Val623=)"	""
"0000294223"	"00025256"	"10"	"1867"	"0"	"1867"	"0"	"c.1867="	"r.(=)"	"p.(Val623=)"	""
"0000294224"	"00025467"	"10"	"681"	"0"	"681"	"0"	"c.681A>G"	"r.(?)"	"p.(Lys227=)"	""
"0000294224"	"00025256"	"10"	"681"	"0"	"681"	"0"	"c.681A>G"	"r.(?)"	"p.(Lys227=)"	""
"0000297254"	"00025467"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000297254"	"00025256"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000297255"	"00025467"	"90"	"1413"	"1"	"1413"	"1"	"c.1413+1G>A"	"r.spl?"	"p.?"	""
"0000297255"	"00025256"	"90"	"1413"	"1"	"1413"	"1"	"c.1413+1G>A"	"r.spl?"	"p.?"	""
"0000297256"	"00025467"	"90"	"1413"	"1"	"1413"	"1"	"c.1413+1G>T"	"r.spl?"	"p.?"	""
"0000297256"	"00025256"	"90"	"1413"	"1"	"1413"	"1"	"c.1413+1G>T"	"r.spl?"	"p.?"	""
"0000297257"	"00025467"	"70"	"1425"	"0"	"1425"	"0"	"c.1425G>A"	"r.(?)"	"p.(Trp475Ter)"	""
"0000297257"	"00025256"	"70"	"1425"	"0"	"1425"	"0"	"c.1425G>A"	"r.(?)"	"p.(Trp475Ter)"	""
"0000297258"	"00025467"	"90"	"1649"	"0"	"1649"	"0"	"c.1649G>A"	"r.(?)"	"p.(Ser550Asn)"	""
"0000297258"	"00025256"	"90"	"1649"	"0"	"1649"	"0"	"c.1649G>A"	"r.(?)"	"p.(Ser550Asn)"	""
"0000297259"	"00025467"	"70"	"1719"	"0"	"1719"	"0"	"c.1719del"	"r.(?)"	"p.(His573GlnfsTer61)"	""
"0000297259"	"00025256"	"70"	"1719"	"0"	"1719"	"0"	"c.1719del"	"r.(?)"	"p.(His573GlnfsTer51)"	""
"0000297260"	"00025467"	"10"	"1867"	"0"	"1867"	"0"	"c.1867="	"r.(=)"	"p.(Val623=)"	""
"0000297260"	"00025256"	"10"	"1867"	"0"	"1867"	"0"	"c.1867="	"r.(=)"	"p.(Val623=)"	""
"0000297261"	"00025467"	"90"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63Ter)"	""
"0000297261"	"00025256"	"90"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63Ter)"	""
"0000297262"	"00025467"	"10"	"681"	"0"	"681"	"0"	"c.681A>G"	"r.(?)"	"p.(Lys227=)"	""
"0000297262"	"00025256"	"10"	"681"	"0"	"681"	"0"	"c.681A>G"	"r.(?)"	"p.(Lys227=)"	""
"0000297263"	"00025467"	"70"	"879"	"5"	"879"	"5"	"c.879+5G>T"	"r.spl?"	"p.?"	""
"0000297263"	"00025256"	"70"	"879"	"5"	"879"	"5"	"c.879+5G>T"	"r.spl?"	"p.?"	""
"0000297264"	"00025467"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000297264"	"00025256"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000299059"	"00025467"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000299059"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000301138"	"00025467"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000301138"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000306146"	"00025467"	"10"	"1111"	"-23"	"1111"	"-23"	"c.1111-23C>T"	"r.(=)"	"p.(=)"	""
"0000306146"	"00025256"	"10"	"1111"	"-23"	"1111"	"-23"	"c.1111-23C>T"	"r.(=)"	"p.(=)"	""
"0000306147"	"00025467"	"30"	"1111"	"-9"	"1111"	"-9"	"c.1111-9C>T"	"r.(=)"	"p.(=)"	""
"0000306147"	"00025256"	"30"	"1111"	"-9"	"1111"	"-9"	"c.1111-9C>T"	"r.(=)"	"p.(=)"	""
"0000306148"	"00025467"	"30"	"120"	"13"	"120"	"13"	"c.120+13C>T"	"r.(=)"	"p.(=)"	""
"0000306148"	"00025256"	"30"	"120"	"13"	"120"	"13"	"c.120+13C>T"	"r.(=)"	"p.(=)"	""
"0000306149"	"00025467"	"10"	"1257"	"0"	"1257"	"0"	"c.1257G>A"	"r.(?)"	"p.(Leu419=)"	""
"0000306149"	"00025256"	"10"	"1257"	"0"	"1257"	"0"	"c.1257G>A"	"r.(?)"	"p.(Leu419=)"	""
"0000306150"	"00025467"	"30"	"1407"	"0"	"1407"	"0"	"c.1407G>A"	"r.(?)"	"p.(Pro469=)"	""
"0000306150"	"00025256"	"30"	"1407"	"0"	"1407"	"0"	"c.1407G>A"	"r.(?)"	"p.(Pro469=)"	""
"0000306151"	"00025467"	"50"	"1456"	"0"	"1456"	"0"	"c.1456C>G"	"r.(?)"	"p.(Arg486Gly)"	""
"0000306151"	"00025256"	"50"	"1456"	"0"	"1456"	"0"	"c.1456C>G"	"r.(?)"	"p.(Arg486Gly)"	""
"0000306152"	"00025467"	"50"	"1483"	"0"	"1483"	"0"	"c.1483G>C"	"r.(?)"	"p.(Val495Leu)"	""
"0000306152"	"00025256"	"50"	"1483"	"0"	"1483"	"0"	"c.1483G>C"	"r.(?)"	"p.(Val495Leu)"	""
"0000306153"	"00025467"	"10"	"1867"	"0"	"1867"	"0"	"c.1867="	"r.(=)"	"p.(Val623=)"	""
"0000306153"	"00025256"	"10"	"1867"	"0"	"1867"	"0"	"c.1867="	"r.(=)"	"p.(Val623=)"	""
"0000306154"	"00025467"	"70"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63Ter)"	""
"0000306154"	"00025256"	"70"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63Ter)"	""
"0000306155"	"00025467"	"10"	"236"	"-16"	"236"	"-16"	"c.236-16C>G"	"r.(=)"	"p.(=)"	""
"0000306155"	"00025256"	"10"	"236"	"-16"	"236"	"-16"	"c.236-16C>G"	"r.(=)"	"p.(=)"	""
"0000306156"	"00025467"	"10"	"681"	"0"	"681"	"0"	"c.681A>G"	"r.(?)"	"p.(Lys227=)"	""
"0000306156"	"00025256"	"10"	"681"	"0"	"681"	"0"	"c.681A>G"	"r.(?)"	"p.(Lys227=)"	""
"0000306157"	"00025467"	"90"	"880"	"-1"	"880"	"-1"	"c.880-1G>C"	"r.spl?"	"p.?"	""
"0000306157"	"00025256"	"90"	"880"	"-1"	"880"	"-1"	"c.880-1G>C"	"r.spl?"	"p.?"	""
"0000306158"	"00025467"	"30"	"950"	"3"	"950"	"3"	"c.950+3A>G"	"r.spl?"	"p.?"	""
"0000306158"	"00025256"	"30"	"950"	"3"	"950"	"3"	"c.950+3A>G"	"r.spl?"	"p.?"	""
"0000320807"	"00025467"	"30"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000320807"	"00025256"	"30"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000320810"	"00025467"	"50"	"-21778"	"0"	"-21778"	"0"	"c.-21778G>A"	"r.(?)"	"p.(=)"	""
"0000320810"	"00025256"	"50"	"-409"	"0"	"-409"	"0"	"c.-409G>A"	"r.(?)"	"p.(=)"	""
"0000338143"	"00025467"	"30"	"1540"	"-19"	"1540"	"-19"	"c.1540-19A>C"	"r.(=)"	"p.(=)"	""
"0000338143"	"00025256"	"30"	"1540"	"-19"	"1540"	"-19"	"c.1540-19A>C"	"r.(=)"	"p.(=)"	""
"0000338144"	"00025467"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000338144"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000338145"	"00025467"	"90"	"880"	"-1"	"880"	"-1"	"c.880-1G>C"	"r.spl?"	"p.?"	""
"0000338145"	"00025256"	"90"	"880"	"-1"	"880"	"-1"	"c.880-1G>C"	"r.spl?"	"p.?"	""
"0000340872"	"00025467"	"10"	"681"	"0"	"681"	"0"	"c.681A>G"	"r.(?)"	"p.(Lys227=)"	""
"0000340872"	"00025256"	"10"	"681"	"0"	"681"	"0"	"c.681A>G"	"r.(?)"	"p.(Lys227=)"	""
"0000342067"	"00025467"	"50"	"512"	"0"	"512"	"0"	"c.512G>T"	"r.(?)"	"p.(Arg171Leu)"	""
"0000342067"	"00025256"	"50"	"512"	"0"	"512"	"0"	"c.512G>T"	"r.(?)"	"p.(Arg171Leu)"	""
"0000342906"	"00025467"	"90"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.(?)"	"p.(Arg442His)"	""
"0000342906"	"00025256"	"90"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.(?)"	"p.(Arg442His)"	""
"0000342990"	"00025467"	"90"	"1462"	"0"	"1462"	"0"	"c.1462C>T"	"r.(?)"	"p.(Arg488Ter)"	""
"0000342990"	"00025256"	"90"	"1462"	"0"	"1462"	"0"	"c.1462C>T"	"r.(?)"	"p.(Arg488Ter)"	""
"0000344086"	"00025467"	"70"	"1202"	"0"	"1202"	"0"	"c.1202A>T"	"r.(?)"	"p.(Asp401Val)"	""
"0000344086"	"00025256"	"70"	"1202"	"0"	"1202"	"0"	"c.1202A>T"	"r.(?)"	"p.(Asp401Val)"	""
"0000346126"	"00025467"	"70"	"1513"	"0"	"1513"	"0"	"c.1513G>A"	"r.(?)"	"p.(Gly505Ser)"	""
"0000346126"	"00025256"	"70"	"1513"	"0"	"1513"	"0"	"c.1513G>A"	"r.(?)"	"p.(Gly505Ser)"	""
"0000347767"	"00025467"	"90"	"1"	"0"	"1"	"0"	"c.1A>T"	"r.(?)"	"p.(Met1?)"	""
"0000347767"	"00025256"	"90"	"1"	"0"	"1"	"0"	"c.1A>T"	"r.(?)"	"p.(Met1?)"	""
"0000347847"	"00025467"	"90"	"1429"	"0"	"1430"	"0"	"c.1429_1430del"	"r.(?)"	"p.(Met477ValfsTer6)"	""
"0000347847"	"00025256"	"90"	"1429"	"0"	"1430"	"0"	"c.1429_1430del"	"r.(?)"	"p.(Met477ValfsTer6)"	""
"0000348364"	"00025467"	"70"	"908"	"0"	"908"	"0"	"c.908C>T"	"r.(?)"	"p.(Pro303Leu)"	""
"0000348364"	"00025256"	"70"	"908"	"0"	"908"	"0"	"c.908C>T"	"r.(?)"	"p.(Pro303Leu)"	""
"0000350231"	"00025467"	"30"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Val101Ile)"	""
"0000350231"	"00025256"	"30"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Val101Ile)"	""
"0000351826"	"00025256"	"90"	"1011"	"0"	"1011"	"0"	"c.1011dup"	"r.(?)"	"p.(Asp338*)"	"11"
"0000351827"	"00025256"	"90"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	"17"
"0000351828"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.1414_1539del"	"p.Leu472_His513del"	"17i"
"0000351829"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.1414_1539del"	"p.Leu472_His513del"	"17i"
"0000351830"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.[1414_1539del, 1539_1540ins(1539+1_?);1539+1g>a]"	"p.[Leu472_His513del, Glu514Metfs*13]"	"17i"
"0000351831"	"00025256"	"90"	"1011"	"0"	"1011"	"0"	"c.1011dup"	"r.(?)"	"p.(Asp338*)"	"11"
"0000351832"	"00025256"	"90"	"1011"	"0"	"1011"	"0"	"c.1011dup"	"r.(?)"	"p.(Asp338*)"	"11"
"0000351835"	"00025256"	"90"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	"17"
"0000351837"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.[1414_1539del, 1539_1540ins(1539+1_?);1539+1g>a]"	"p.[Leu472_His513del, Glu514Metfs*13]"	"17i"
"0000351839"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.1414_1539del"	"p.Leu472_His513del"	"17i"
"0000351841"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.1414_1539del"	"p.Leu472_His513del"	"17i"
"0000351843"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.1414_1539del"	"p.Leu472_His513del"	"17i"
"0000351845"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.1414_1539del"	"p.Leu472_His513del"	"17i"
"0000351847"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000351849"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000351851"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000351852"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000351853"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>T"	"r.spl"	"p.?"	"17i"
"0000351855"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>T"	"r.spl"	"p.?"	"17i"
"0000351857"	"00025256"	"97"	"1540"	"-2"	"1540"	"-2"	"c.1540-2A>G"	"r.spl"	"p.?"	"17i"
"0000351859"	"00025256"	"90"	"1649"	"0"	"1649"	"0"	"c.1649G>A"	"r.1605_1649del"	"p.Leu536_Ser550del"	"19"
"0000351861"	"00025256"	"90"	"1719"	"0"	"1719"	"0"	"c.1719del"	"r.(?)"	"p.(His573Glnfs*61)"	"20"
"0000351863"	"00025256"	"90"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63*)"	"3"
"0000351864"	"00025256"	"90"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63*)"	"3"
"0000351865"	"00025256"	"90"	"1478"	"0"	"1478"	"0"	"c.1478C>G"	"r.(?)"	"p.(Pro493Arg)"	"17"
"0000351866"	"00025256"	"90"	"1869"	"7"	"1869"	"7"	"c.1869+7del"	"r.(=)"	"p.(=)"	"21i"
"0000351867"	"00025256"	"30"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.794g>a"	"p.Arg265His"	"9"
"0000351868"	"00025256"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.932g>a"	"p.Arg311Gln"	"10"
"0000351869"	"00025256"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.1324c>u"	"p.Arg442Cys"	"16"
"0000351870"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000351871"	"00025256"	"90"	"1832"	"0"	"1832"	"0"	"c.1832del"	"r.(?)"	"p.(Leu611Argfs*23)"	"21"
"0000351872"	"00025256"	"90"	"1274"	"0"	"1274"	"0"	"c.1274G>C"	"r.(?)"	"p.(Trp425Ser)"	"15"
"0000351873"	"00025467"	"90"	"1895"	"5"	"1895"	"8"	"c.1895+5_1895+8del"	"r.1895_1896ins[guga;1895+9_1896-1]"	"p.val633*"	"21i"
"0000351873"	"00025256"	"90"	"1869"	"31"	"1869"	"34"	"c.1869+31_1869+34del"	"r.1869_1870ins[1869+1_1869+30;1869+35_1870-1]"	"p.Ser624Valfs*10"	"21i"
"0000351874"	"00025256"	"90"	"447"	"0"	"447"	"0"	"c.447del"	"r.(?)"	"p.(Phe149Leufs*19)"	"6"
"0000351875"	"00025256"	"90"	"667"	"0"	"667"	"0"	"c.667G>A"	"r.(?)"	"p.(Glu223Lys)"	"8"
"0000351876"	"00025256"	"90"	"806"	"0"	"806"	"0"	"c.806G>A"	"r.(?)"	"p.(Cys269Tyr)"	"9"
"0000351877"	"00025256"	"90"	"982"	"0"	"982"	"0"	"c.982dup"	"r.(?)"	"p.(Val328Glyfs*11)"	"11"
"0000351878"	"00025256"	"90"	"667"	"0"	"667"	"0"	"c.667G>A"	"r.(?)"	"p.(Glu223Lys)"	"8"
"0000351879"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000351880"	"00025256"	"90"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	"17"
"0000351881"	"00025256"	"90"	"1769"	"0"	"1769"	"0"	"c.1769G>A"	"r.(?)"	"p.(Trp590*)"	"20"
"0000351882"	"00025256"	"90"	"879"	"5"	"879"	"5"	"c.879+5G>A"	"r.spl"	"p.?"	"9i"
"0000351883"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.1414_1539del"	"p.Leu472_His513del"	"17i"
"0000351884"	"00025256"	"90"	"879"	"5"	"879"	"5"	"c.879+5G>T"	"r.879_880ins[gtgau;879+6_879+25]"	"p.Leu294Valfs*8"	"9i"
"0000351885"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.1414_1539del"	"p.Leu472_His513del"	"17i"
"0000351886"	"00025256"	"90"	"1869"	"27"	"1869"	"27"	"c.1869+27G>T"	"r.spl?"	"p.(=)"	"21i"
"0000351887"	"00025256"	"90"	"1869"	"27"	"1869"	"27"	"c.1869+27G>A"	"r.spl?"	"p.(=)"	"21i"
"0000351888"	"00025256"	"90"	"447"	"0"	"447"	"0"	"c.447dup"	"r.(?)"	"p.(Asp150*)"	"6"
"0000351889"	"00025256"	"90"	"1279"	"0"	"1279"	"0"	"c.1279G>C"	"r.(?)"	"p.(Asp427His)"	"15"
"0000351890"	"00025256"	"90"	"1011"	"0"	"1011"	"0"	"c.1011dup"	"r.(?)"	"p.(Asp338*)"	"11"
"0000351891"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000351892"	"00025256"	"90"	"1285"	"-2"	"1285"	"-2"	"c.1285-2A>G"	"r.spl?"	"p.?"	"15i"
"0000351893"	"00025256"	"10"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.1414_1539del"	"p.Leu472_His513del"	"17i"
"0000351894"	"00025256"	"90"	"1100"	"0"	"1100"	"0"	"c.1100G>A"	"r.(?)"	"p.(Arg367His)"	"12"
"0000351895"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000351896"	"00025256"	"10"	"1111"	"-23"	"1111"	"-23"	"c.1111-23C>T"	"r.(?)"	"p.(=)"	"12i"
"0000351897"	"00025256"	"90"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	"17"
"0000351898"	"00025256"	"90"	"652"	"1"	"652"	"1"	"c.652+1G>A"	"r.spl?"	"p.?"	"7i"
"0000351899"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000351901"	"00025256"	"90"	"1425"	"0"	"1425"	"0"	"c.1425G>A"	"r.(?)"	"p.(Trp475*)"	"17"
"0000351903"	"00025256"	"90"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	"20"
"0000351905"	"00025256"	"90"	"1785"	"2"	"1785"	"2"	"c.1785+2T>G"	"r.spl"	"p.?"	"20i"
"0000351907"	"00025256"	"10"	"1785"	"31"	"1785"	"31"	"c.1785+31C>A"	"r.(?)"	"p.(=)"	"20"
"0000351908"	"00025256"	"50"	"1867"	"0"	"1867"	"0"	"c.1867G>A"	"r.(?)"	"p.(Val623Met)"	"21"
"0000351909"	"00025256"	"50"	"1867"	"0"	"1867"	"0"	"c.1867G>A"	"r.(?)"	"p.(Val623Met)"	"21"
"0000351910"	"00025256"	"50"	"1867"	"0"	"1867"	"0"	"c.1867G>A"	"r.(?)"	"p.(Val623Met)"	"21"
"0000351911"	"00025256"	"10"	"1869"	"56"	"1869"	"56"	"c.1869+56A>G"	"r.(?)"	"p.(=)"	"21i"
"0000351912"	"00025256"	"10"	"-11"	"0"	"-11"	"0"	"c.-11G>A"	"r.(?)"	"p.(=)"	"2"
"0000351913"	"00025256"	"10"	"235"	"33"	"235"	"33"	"c.235+33T>G"	"r.(?)"	"p.(=)"	"3i"
"0000351914"	"00025256"	"10"	"355"	"-27"	"355"	"-27"	"c.355-27C>T"	"r.(?)"	"p.(=)"	"4i"
"0000351915"	"00025256"	"90"	"526"	"0"	"526"	"0"	"c.526A>C"	"r.(?)"	"p.(Thr176Pro)"	"6"
"0000351917"	"00025256"	"10"	"681"	"0"	"681"	"0"	"c.681A>G"	"r.(?)"	"p.(?)"	"8"
"0000351918"	"00025256"	"10"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.(?)"	"p.(Arg442His)"	"16"
"0000351919"	"00025256"	"10"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.(?)"	"p.(Arg442His)"	"16"
"0000351920"	"00025256"	"10"	"458"	"0"	"458"	"0"	"c.458C>G"	"r.(?)"	"p.(Ser153*)"	"6"
"0000351921"	"00025256"	"10"	"805"	"0"	"807"	"0"	"c.805_807del"	"r.(?)"	"p.(Cys269del)"	"9"
"0000351922"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.(1414_1539del)"	"p.(Leu472_His513del)"	"17i"
"0000351923"	"00025256"	"90"	"630"	"0"	"630"	"0"	"c.630G>T"	"r.(?)"	"p.(Trp210Cys)"	"7"
"0000351924"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.(1414_1539del)"	"p.(Leu472_His513del)"	"17i"
"0000351925"	"00025256"	"90"	"421"	"-29"	"452"	"0"	"c.421-29_452del"	"r.spl"	"p.?"	"5i_6"
"0000351926"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.(1414_1539del)"	"p.(Leu472_His513del)"	"17i"
"0000351927"	"00025256"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"10"
"0000351928"	"00025256"	"50"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	"9"
"0000351929"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.1414_1539del"	"p.Leu472_His513del"	"17i"
"0000351930"	"00025256"	"90"	"636"	"0"	"636"	"0"	"c.636C>T"	"r.535_652del"	"p.Asp179Valfs*23"	"7"
"0000351931"	"00025256"	"90"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	"17"
"0000351933"	"00025256"	"90"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	"17"
"0000351935"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.(Leu472_His513del)"	"17i"
"0000351937"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.(Leu472_His513del)"	"17i"
"0000351941"	"00025256"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	"16"
"0000351943"	"00025256"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	"16"
"0000351945"	"00025256"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	"16"
"0000351947"	"00025256"	"90"	"593"	"0"	"593"	"0"	"c.593del"	"r.(?)"	"p.(Ser198Thrfs*43)"	"7"
"0000351948"	"00025256"	"90"	"25"	"0"	"25"	"0"	"c.25dup"	"r.(?)"	"p.(Leu9Profs*20)"	"2"
"0000351949"	"00025256"	"90"	"1350"	"0"	"1354"	"0"	"c.1350_1354del"	"r.(?)"	"p.(Trp451Alafs*11)"	"16"
"0000351950"	"00025256"	"90"	"1350"	"0"	"1354"	"0"	"c.1350_1354del"	"r.(?)"	"p.(Trp451Alafs*11)"	"16"
"0000351951"	"00025256"	"90"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.(?)"	"p.(Arg442His)"	"16"
"0000351953"	"00025256"	"90"	"1738"	"0"	"1738"	"0"	"c.1738C>T"	"r.(?)"	"p.(Arg580*)"	"20"
"0000351954"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000351955"	"00025256"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	"16"
"0000351956"	"00025256"	"50"	"1462"	"0"	"1462"	"0"	"c.1462C>G"	"r.(?)"	"p.(Arg488Gly)"	"17"
"0000351957"	"00025256"	"90"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	"9"
"0000351958"	"00025256"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"10"
"0000351959"	"00025256"	"50"	"956"	"0"	"956"	"0"	"c.956T>C"	"r.(?)"	"p.(Leu319Pro)"	"11"
"0000351960"	"00025256"	"90"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.(?)"	"p.(Arg442His)"	"16"
"0000351961"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17"
"0000351962"	"00025256"	"50"	"908"	"0"	"908"	"0"	"c.908C>T"	"r.(?)"	"p.(Pro303Leu)"	"10"
"0000351963"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000351964"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.(Leu472_His513del)"	"17i"
"0000351965"	"00025256"	"90"	"1738"	"0"	"1738"	"0"	"c.1738C>T"	"r.(?)"	"p.(Arg580*)"	"20"
"0000351966"	"00025256"	"90"	"1279"	"0"	"1279"	"0"	"c.1279G>C"	"r.(?)"	"p.(Asp427His)"	"15"
"0000351967"	"00025256"	"90"	"447"	"0"	"447"	"0"	"c.447dup"	"r.(?)"	"p.(Asp150*)"	"6"
"0000351968"	"00025467"	"90"	"0"	"0"	"0"	"0"	"c.1539+184_*589{0}"	"r.?"	"p.?"	"17i_22_"
"0000351968"	"00025256"	"90"	"0"	"0"	"0"	"0"	"c.1539+184_*38{0}"	"r.?"	"p.?"	"17i_23_"
"0000351970"	"00025256"	"90"	"1342"	"0"	"1342"	"0"	"c.1342G>C"	"r.(?)"	"p.(Gly448Arg)"	"16"
"0000351971"	"00025467"	"90"	"0"	"0"	"0"	"0"	"c.1539+261_*589{0}"	"r.?"	"p.?"	""
"0000351971"	"00025256"	"90"	"0"	"0"	"0"	"0"	"c.1539+261_*38{0}"	"r.?"	"p.?"	"17i_22_"
"0000351972"	"00025256"	"90"	"931"	"0"	"931"	"0"	"c.931C>T"	"r.(?)"	"p.(Arg311*)"	"10"
"0000351973"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000351974"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000351975"	"00025256"	"70"	"1286"	"0"	"1286"	"0"	"c.1286G>A"	"r.(?)"	"p.(Gly429Glu)"	"16"
"0000351976"	"00025256"	"10"	"235"	"33"	"235"	"33"	"c.235+33T>G"	"r.(?)"	"p.(=)"	"3i"
"0000351977"	"00025256"	"50"	"236"	"-13"	"236"	"-13"	"c.236-13T>C"	"r.(?)"	"p.(=)"	"3i"
"0000351978"	"00025256"	"10"	"355"	"-27"	"355"	"-27"	"c.355-27C>T"	"r.(?)"	"p.(=)"	"4i"
"0000351979"	"00025256"	"90"	"636"	"0"	"636"	"0"	"c.636C>T"	"r.(?)"	"p.(=)"	"7"
"0000351980"	"00025256"	"10"	"681"	"0"	"681"	"0"	"c.681A>G"	"r.(?)"	"p.(=)"	"8"
"0000351981"	"00025256"	"10"	"880"	"-39"	"880"	"-39"	"c.880-39G>C"	"r.(?)"	"p.(=)"	"9i"
"0000351982"	"00025256"	"50"	"880"	"-5"	"880"	"-5"	"c.880-5C>T"	"r.(?)"	"p.(=)"	"9i"
"0000351983"	"00025256"	"10"	"1027"	"-44"	"1027"	"-44"	"c.1027-44A>G"	"r.(?)"	"p.(=)"	"11i"
"0000351984"	"00025256"	"10"	"1111"	"-23"	"1111"	"-23"	"c.1111-23C>T"	"r.(?)"	"p.(=)"	"12i"
"0000351985"	"00025256"	"90"	"1411"	"0"	"1411"	"0"	"c.1411A>T"	"r.(?)"	"p.(Lys471*)"	"16"
"0000351986"	"00025256"	"10"	"1414"	"-38"	"1414"	"-38"	"c.1414-38G>A"	"r.(?)"	"p.(=)"	"16i"
"0000351987"	"00025256"	"10"	"1510"	"0"	"1510"	"0"	"c.1510G>A"	"r.(?)"	"p.(Val504Ile)"	"17"
"0000351988"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000351989"	"00025256"	"10"	"1540"	"-16"	"1540"	"-16"	"c.1540-16C>T"	"r.(?)"	"p.(=)"	"17i"
"0000351990"	"00025256"	"10"	"1785"	"31"	"1785"	"31"	"c.1785+31C>A"	"r.(?)"	"p.(=)"	"20i"
"0000351991"	"00025256"	"10"	"1785"	"40"	"1785"	"40"	"c.1785+40C>G"	"r.(?)"	"p.(=)"	"20i"
"0000351992"	"00025256"	"10"	"1867"	"0"	"1867"	"0"	"c.1867G>A"	"r.(?)"	"p.(Val623Met)"	"21"
"0000351993"	"00025256"	"50"	"1869"	"4"	"1869"	"4"	"c.1869+4G>A"	"r.(spl?)"	"p.(?)"	"21i"
"0000351994"	"00025256"	"10"	"1869"	"56"	"1869"	"56"	"c.1869+56A>G"	"r.(?)"	"p.(=)"	"21i"
"0000351995"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>T"	"r.spl"	"p.?"	"17i"
"0000351996"	"00025256"	"90"	"1869"	"27"	"1869"	"27"	"c.1869+27G>T"	"r.(spl?)"	"p.(=)"	"21i"
"0000351997"	"00025256"	"90"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	"17"
"0000351998"	"00025256"	"70"	"961"	"0"	"961"	"0"	"c.961T>C"	"r.(?)"	"p.(Ser321Pro)"	"11"
"0000351999"	"00025256"	"50"	"244"	"0"	"244"	"0"	"c.244C>T"	"r.(?)"	"p.(=)"	"4"
"0000352000"	"00025256"	"50"	"46"	"0"	"46"	"0"	"c.46C>T"	"r.(?)"	"p.(Arg16Trp)"	"2"
"0000352336"	"00025256"	"90"	"636"	"0"	"636"	"0"	"c.636C>T"	"r.535_652del"	"p.Asp179Valfs*23"	"7"
"0000352497"	"00025256"	"90"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	""
"0000352498"	"00025256"	"90"	"1539"	"358"	"1650"	"-162"	"c.1539+358_1650-162del"	"r.(?)"	"p.(Glu514*)"	"17i_19i"
"0000352499"	"00025256"	"90"	"643"	"0"	"643"	"0"	"c.643C>T"	"r.535_652del"	"p.Asp179Valfs*23"	"7"
"0000352500"	"00025256"	"90"	"931"	"0"	"931"	"0"	"c.931C>T"	"r.931c>u"	"p.Arg311*"	"10"
"0000352503"	"00025256"	"90"	"351"	"0"	"351"	"0"	"c.351del"	"r.(?)"	"p.(Thr118Argfs*26)"	"4"
"0000352504"	"00025256"	"90"	"-50"	"-1"	"751"	"1"	"c.(-51+1_-50-1)_(751+1_752-1)del"	"r.?"	"p.0?"	"1i_8i"
"0000352505"	"00025256"	"00"	"1869"	"27"	"1869"	"27"	"c.1869+27G>T"	"r.1869_1870ins[1869+1_1869+26;u;1869+28_1870-1]"	"p.(=)"	"21i"
"0000352506"	"00025256"	"90"	"351"	"0"	"351"	"0"	"c.351del"	"r.(?)"	"p.(Thr118Argfs*26)"	"4"
"0000352507"	"00025256"	"90"	"1864"	"0"	"1864"	"0"	"c.1864del"	"r.(?)"	"p.(Leu622*)"	"21"
"0000352508"	"00025256"	"90"	"1870"	"-1"	"1870"	"-1"	"c.1870-1G>C"	"r.1870_1871del"	"p.Ser624*"	"21i"
"0000352509"	"00025256"	"90"	"1319"	"0"	"1319"	"0"	"c.1319T>G"	"r.(?)"	"p.(Leu440Arg)"	"16"
"0000352510"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>C"	"r.(?)"	"p.(Arg605Pro)"	"21"
"0000352511"	"00025256"	"90"	"1513"	"0"	"1513"	"0"	"c.1513G>A"	"r.(?)"	"p.(Gly505Ser)"	"17"
"0000352512"	"00025256"	"90"	"575"	"0"	"575"	"0"	"c.575T>C"	"r.(?)"	"p.(Leu192Pro)"	"7"
"0000352513"	"00025256"	"90"	"1325"	"0"	"1325"	"0"	"c.1325G>T"	"r.(?)"	"p.(Arg442Leu)"	"16"
"0000352514"	"00025256"	"97"	"1814"	"0"	"1814"	"0"	"c.1814G>C"	"r.(?)"	"p.(Arg605Pro)"	"21"
"0000352515"	"00025256"	"97"	"1814"	"0"	"1814"	"0"	"c.1814G>C"	"r.(?)"	"p.(Arg605Pro)"	"21"
"0000352516"	"00025256"	"97"	"1350"	"0"	"1354"	"0"	"c.1350_1354del"	"r.(?)"	"p.(Trp451Alafs*11)"	"16"
"0000352517"	"00025256"	"97"	"1350"	"0"	"1354"	"0"	"c.1350_1354del"	"r.(?)"	"p.(Trp451Alafs*11)"	"16"
"0000352518"	"00025256"	"90"	"593"	"0"	"593"	"0"	"c.593del"	"r.(?)"	"p.(Ser198Thrfs*43)"	"7"
"0000352519"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000352520"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000352521"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000352522"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000352523"	"00025256"	"90"	"703"	"0"	"703"	"0"	"c.703G>C"	"r.(?)"	"p.(Gly235Arg)"	"8"
"0000352524"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000352525"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000352526"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000352527"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000352528"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000352529"	"00025256"	"90"	"1785"	"1"	"1785"	"1"	"c.1785+1G>A"	"r.spl"	"p.?"	"20i"
"0000352530"	"00025256"	"50"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	"9"
"0000352531"	"00025256"	"50"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"10"
"0000352532"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	"21"
"0000352533"	"00025256"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	"16"
"0000352534"	"00025256"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"10"
"0000352535"	"00025256"	"30"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	"9"
"0000352536"	"00025256"	"90"	"1649"	"0"	"1649"	"0"	"c.1649G>A"	"r.(?)"	"p.(Ser550Asn)"	"19"
"0000352537"	"00025256"	"90"	"1478"	"0"	"1478"	"0"	"c.1478C>G"	"r.(?)"	"p.(Pro493Arg)"	"17"
"0000352538"	"00025256"	"90"	"1869"	"7"	"1869"	"7"	"c.1869+7del"	"r.(=)"	"p.(=)"	"21i"
"0000352539"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000352540"	"00025256"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	"10"
"0000352541"	"00025467"	"90"	"931"	"0"	"931"	"0"	"c.931C>T"	"r.(?)"	"p.(Arg311*)"	""
"0000352541"	"00025256"	"90"	"931"	"0"	"931"	"0"	"c.931C>T"	"r.(?)"	"p.(Arg311*)"	"10"
"0000352542"	"00025256"	"90"	"1285"	"-2"	"1285"	"-2"	"c.1285-2A>G"	"r.[1284_1285ins[1284+1_1285-3;gg], 1285_1413del]"	"p.Gln428_Gly429insVGWNDQGLAGEFMRPQLIPPTMAPCPR"	"15i"
"0000352543"	"00025256"	"90"	"931"	"0"	"931"	"0"	"c.931C>T"	"r.(?)"	"p.(Arg311*)"	"10"
"0000352544"	"00025256"	"90"	"1285"	"-2"	"1285"	"-2"	"c.1285-2A>G"	"r.[1284_1285ins[1284+1_1285-3;gg], 1285_1413del]"	"p.Gln428_Gly429insVGWNDQGLAGEFMRPQLIPPTMAPCPR"	"15i"
"0000352545"	"00025256"	"90"	"1274"	"0"	"1274"	"0"	"c.1274G>C"	"r.(?)"	"p.(Trp425Ser)"	"15"
"0000352546"	"00025256"	"90"	"1385"	"0"	"1385"	"0"	"c.1385T>A"	"r.(?)"	"p.(Leu462His)"	"16"
"0000352547"	"00025256"	"90"	"1011"	"0"	"1011"	"0"	"c.1011dup"	"r.(?)"	"p.(Asp338*)"	"11"
"0000352552"	"00025256"	"90"	"1545"	"0"	"1545"	"0"	"c.1545del"	"r.(?)"	"p.(Tyr516Thrfs*21)"	"18"
"0000352553"	"00025256"	"90"	"1496"	"0"	"1496"	"0"	"c.1496A>G"	"r.(?)"	"p.(Tyr499Cys)"	"17"
"0000352554"	"00025256"	"97"	"1870"	"-1"	"1870"	"-1"	"c.1870-1G>C"	"r.1896_1897del"	"p.Val633Glufs*53"	"21i"
"0000352555"	"00025256"	"97"	"1864"	"0"	"1864"	"0"	"c.1864del"	"r.(1864del)"	"p.(Leu622TrpfsTer2)"	"21"
"0000352556"	"00025256"	"77"	"1513"	"0"	"1513"	"0"	"c.1513G>A"	"r.(1513g>a)"	"p.(Gly505Ser)"	"17"
"0000352557"	"00025256"	"77"	"1325"	"0"	"1325"	"0"	"c.1325G>T"	"r.(1325g>u)"	"p.(Arg442Leu)"	"16"
"0000352558"	"00025256"	"77"	"1319"	"0"	"1319"	"0"	"c.1319T>G"	"r.(1319u>g)"	"p.(Leu440Arg)"	"16"
"0000352559"	"00025256"	"97"	"982"	"0"	"982"	"0"	"c.982dup"	"r.(982dup)"	"p.(Val328Glyfs*11)"	"11"
"0000352560"	"00025256"	"97"	"-50"	"-1"	"751"	"1"	"c.(-51+1_-50-1)_(751+1_752-1)del"	"r.?"	"p.?"	"2i_8i"
"0000352561"	"00025256"	"97"	"667"	"0"	"667"	"0"	"c.667G>A"	"r.(667g>a)"	"p.(Glu223Lys)"	"8"
"0000352562"	"00025256"	"97"	"643"	"0"	"643"	"0"	"c.643C>T"	"r.535_652del"	"p.Asp179Valfs*23"	"7"
"0000352563"	"00025256"	"97"	"593"	"0"	"593"	"0"	"c.593del"	"r.(593del)"	"p.(Ser198Thrfs*43)"	"7"
"0000352564"	"00025256"	"77"	"575"	"0"	"575"	"0"	"c.575T>C"	"r.(575u>c)"	"p.(Leu192Pro)"	"7"
"0000352565"	"00025256"	"77"	"526"	"0"	"526"	"0"	"c.526A>C"	"r.(526a>c)"	"p.(Thr176Pro)"	"6"
"0000352566"	"00025256"	"97"	"447"	"0"	"447"	"0"	"c.447del"	"r.(447del)"	"p.(Phe149Leufs*19)"	"6"
"0000352567"	"00025256"	"97"	"351"	"0"	"351"	"0"	"c.351del"	"r.(351del)"	"p.(Thr118Argfs*26)"	"4"
"0000352568"	"00025256"	"97"	"25"	"0"	"25"	"0"	"c.25dup"	"r.(25dup)"	"p.(Leu9Profs*20)"	"2"
"0000352677"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>C"	"r.(?)"	"p.(Arg605Pro)"	"21"
"0000352678"	"00025256"	"90"	"636"	"0"	"636"	"0"	"c.636C>T"	"r.(=)"	"p.(=)"	"7"
"0000352679"	"00025256"	"90"	"594"	"0"	"594"	"0"	"c.594C>G"	"r.(?)"	"p.(Ser198Arg)"	"7"
"0000352680"	"00025256"	"90"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	"17"
"0000352681"	"00025256"	"90"	"351"	"0"	"351"	"0"	"c.351del"	"r.(?)"	"p.(Thr118Argfs*26)"	"4"
"0000352682"	"00025256"	"90"	"1869"	"27"	"1869"	"27"	"c.1869+27G>T"	"r.(=)"	"p.(=)"	"22i"
"0000352683"	"00025256"	"90"	"1285"	"-2"	"1285"	"-2"	"c.1285-2A>G"	"r.spl"	"p.?"	"15i"
"0000352684"	"00025256"	"90"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63*)"	"4"
"0000453953"	"00025256"	"90"	"1759"	"0"	"1763"	"0"	"c.1759_1763del"	"r.(?)"	"p.(Phe587Hisfs*37)"	""
"0000453954"	"00025256"	"90"	"1102"	"0"	"1102"	"0"	"c.1102G>A"	"r.(?)"	"p.(Val368Met)"	""
"0000464826"	"00025256"	"50"	"1454"	"0"	"1454"	"0"	"c.1454G>A"	"r.(?)"	"p.(Arg485His)"	"17"
"0000464827"	"00025256"	"50"	"1157"	"0"	"1157"	"0"	"c.1157C>T"	"r.(?)"	"p.(Ala386Val)"	"14"
"0000464828"	"00025256"	"50"	"418"	"0"	"418"	"0"	"c.418A>G"	"r.(?)"	"p.(Thr140Ala)"	"5"
"0000464829"	"00025256"	"50"	"503"	"0"	"503"	"0"	"c.503C>T"	"r.(?)"	"p.(Ala168Val)"	"6"
"0000464830"	"00025256"	"50"	"706"	"0"	"706"	"0"	"c.706G>A"	"r.(?)"	"p.(Asp236Asn)"	"8"
"0000464831"	"00025256"	"50"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Ser280Asn)"	"9"
"0000464832"	"00025256"	"50"	"266"	"0"	"266"	"0"	"c.266G>A"	"r.(?)"	"p.(Arg89Gln)"	"4"
"0000464833"	"00025256"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"22"
"0000464834"	"00025256"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"22"
"0000464835"	"00025256"	"50"	"286"	"0"	"286"	"0"	"c.286C>T"	"r.(?)"	"p.(Arg96Trp)"	"4"
"0000464836"	"00025256"	"50"	"1010"	"0"	"1010"	"0"	"c.1010T>C"	"r.(?)"	"p.(Ile337Thr)"	"11"
"0000464837"	"00025256"	"50"	"1476"	"0"	"1476"	"0"	"c.1476C>A"	"r.(?)"	"p.(=)"	"17"
"0000464838"	"00025256"	"50"	"120"	"3"	"120"	"3"	"c.120+3A>G"	"r.spl?"	"p.?"	"2i"
"0000464839"	"00025256"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(Thr660Ile)"	"22"
"0000464840"	"00025256"	"50"	"461"	"0"	"461"	"0"	"c.461C>T"	"r.(?)"	"p.(Pro154Leu)"	"6"
"0000464841"	"00025256"	"50"	"1010"	"0"	"1010"	"0"	"c.1010T>C"	"r.(?)"	"p.(Ile337Thr)"	"11"
"0000464842"	"00025256"	"50"	"1457"	"0"	"1457"	"0"	"c.1457G>A"	"r.(?)"	"p.(Arg486Gln)"	"17"
"0000464843"	"00025256"	"50"	"46"	"0"	"46"	"0"	"c.46C>T"	"r.(?)"	"p.(Arg16Trp)"	"2"
"0000464844"	"00025256"	"50"	"788"	"0"	"788"	"0"	"c.788G>A"	"r.(?)"	"p.(Arg263His)"	"9"
"0000464845"	"00025256"	"50"	"561"	"0"	"561"	"0"	"c.561C>G"	"r.(?)"	"p.(Asp187Glu)"	"7"
"0000464846"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	"17i"
"0000464847"	"00025256"	"50"	"1454"	"0"	"1454"	"0"	"c.1454G>A"	"r.(?)"	"p.(Arg485His)"	"17"
"0000464848"	"00025256"	"50"	"268"	"0"	"268"	"0"	"c.268C>T"	"r.(?)"	"p.(Arg90Cys)"	"4"
"0000464849"	"00025256"	"50"	"269"	"0"	"269"	"0"	"c.269G>A"	"r.(?)"	"p.(Arg90His)"	"4"
"0000464850"	"00025256"	"50"	"1220"	"0"	"1220"	"0"	"c.1220G>A"	"r.(?)"	"p.(Ser407Asn)"	"15"
"0000464851"	"00025256"	"50"	"1015"	"0"	"1015"	"0"	"c.1015G>T"	"r.(?)"	"p.(Gly339Cys)"	"11"
"0000464852"	"00025256"	"50"	"1454"	"0"	"1454"	"0"	"c.1454G>A"	"r.(?)"	"p.(Arg485His)"	"17"
"0000464853"	"00025256"	"50"	"1264"	"0"	"1264"	"0"	"c.1264A>C"	"r.(?)"	"p.(Ile422Leu)"	"15"
"0000464854"	"00025256"	"50"	"1732"	"0"	"1732"	"0"	"c.1732T>C"	"r.(?)"	"p.(Phe578Leu)"	"20"
"0000464855"	"00025256"	"90"	"477"	"0"	"477"	"0"	"c.477dup"	"r.(?)"	"p.(Met160Hisfs*21)"	"6"
"0000464856"	"00025256"	"50"	"788"	"0"	"788"	"0"	"c.788G>A"	"r.(?)"	"p.(Arg263His)"	"9"
"0000464857"	"00025256"	"50"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Ser280Asn)"	"9"
"0000464858"	"00025256"	"50"	"758"	"0"	"758"	"0"	"c.758A>T"	"r.(?)"	"p.(Glu253Val)"	"9"
"0000464859"	"00025256"	"50"	"1379"	"0"	"1379"	"0"	"c.1379A>C"	"r.(?)"	"p.(Glu460Ala)"	"16"
"0000464860"	"00025256"	"50"	"1923"	"0"	"1923"	"0"	"c.1923A>C"	"r.(?)"	"p.(=)"	"22"
"0000464861"	"00025256"	"50"	"172"	"0"	"172"	"0"	"c.172A>G"	"r.(?)"	"p.(Ile58Val)"	"3"
"0000464862"	"00025256"	"50"	"1139"	"0"	"1139"	"0"	"c.1139T>C"	"r.(?)"	"p.(Phe380Ser)"	"13"
"0000464863"	"00025256"	"50"	"46"	"0"	"46"	"0"	"c.46C>T"	"r.(?)"	"p.(Arg16Trp)"	"2"
"0000464864"	"00025256"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"22"
"0000464865"	"00025256"	"50"	"421"	"-7"	"421"	"-7"	"c.421-7C>A"	"r.spl"	"p.(=)"	"5i"
"0000464866"	"00025256"	"50"	"452"	"0"	"452"	"0"	"c.452C>T"	"r.(?)"	"p.(Thr151Met)"	"6"
"0000464867"	"00025256"	"50"	"664"	"0"	"664"	"0"	"c.664G>A"	"r.(?)"	"p.(Gly222Arg)"	"8"
"0000464868"	"00025256"	"50"	"1454"	"0"	"1454"	"0"	"c.1454G>A"	"r.(?)"	"p.(Arg485His)"	"17"
"0000464869"	"00025256"	"50"	"1457"	"0"	"1457"	"0"	"c.1457G>T"	"r.(?)"	"p.(Arg486Leu)"	"17"
"0000464870"	"00025256"	"50"	"1457"	"0"	"1457"	"0"	"c.1457G>T"	"r.(?)"	"p.(Arg486Leu)"	"17"
"0000464871"	"00025256"	"50"	"888"	"0"	"888"	"0"	"c.888C>A"	"r.(?)"	"p.(Asp296Glu)"	"10"
"0000464872"	"00025256"	"50"	"958"	"0"	"958"	"0"	"c.958C>T"	"r.(?)"	"p.(Arg320Cys)"	"11"
"0000464873"	"00025256"	"50"	"107"	"0"	"107"	"0"	"c.107G>A"	"r.(?)"	"p.(Arg36Gln)"	"2"
"0000464874"	"00025256"	"50"	"16"	"0"	"16"	"0"	"c.16C>T"	"r.(?)"	"p.(Pro6Ser)"	"2"
"0000464875"	"00025256"	"50"	"1532"	"0"	"1532"	"0"	"c.1532A>G"	"r.(?)"	"p.(Tyr511Cys)"	"17"
"0000464876"	"00025256"	"50"	"38"	"0"	"38"	"0"	"c.38T>C"	"r.(?)"	"p.(Phe13Ser)"	"2"
"0000464877"	"00025256"	"50"	"1082"	"0"	"1082"	"0"	"c.1082T>C"	"r.(?)"	"p.(Ile361Thr)"	"12"
"0000464878"	"00025256"	"50"	"1082"	"0"	"1082"	"0"	"c.1082T>C"	"r.(?)"	"p.(Ile361Thr)"	"12"
"0000464879"	"00025256"	"50"	"797"	"0"	"797"	"0"	"c.797G>A"	"r.(?)"	"p.(Arg266Gln)"	"9"
"0000464880"	"00025256"	"50"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Ser280Asn)"	"9"
"0000464881"	"00025256"	"50"	"1855"	"0"	"1855"	"0"	"c.1855A>T"	"r.(?)"	"p.(Asn619Tyr)"	"21"
"0000464882"	"00025256"	"50"	"358"	"0"	"358"	"0"	"c.358C>G"	"r.(?)"	"p.(Leu120Val)"	"5"
"0000464883"	"00025256"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"22"
"0000475695"	"00025467"	"50"	"1889"	"0"	"1889"	"0"	"c.1889C>G"	"r.(?)"	"p.(Pro630Arg)"	""
"0000475695"	"00025256"	"50"	"1869"	"20"	"1869"	"20"	"c.1869+20C>G"	"r.(=)"	"p.(=)"	""
"0000475696"	"00025467"	"50"	"1748"	"0"	"1748"	"0"	"c.1748A>G"	"r.(?)"	"p.(Lys583Arg)"	""
"0000475696"	"00025256"	"50"	"1748"	"0"	"1748"	"0"	"c.1748A>G"	"r.(?)"	"p.(Lys583Arg)"	""
"0000475697"	"00025467"	"90"	"1489"	"0"	"1489"	"0"	"c.1489C>T"	"r.(?)"	"p.(Arg497*)"	""
"0000475697"	"00025256"	"90"	"1489"	"0"	"1489"	"0"	"c.1489C>T"	"r.(?)"	"p.(Arg497*)"	""
"0000475698"	"00025467"	"50"	"1085"	"0"	"1085"	"0"	"c.1085G>C"	"r.(?)"	"p.(Ser362Thr)"	""
"0000475698"	"00025256"	"50"	"1085"	"0"	"1085"	"0"	"c.1085G>C"	"r.(?)"	"p.(Ser362Thr)"	""
"0000475699"	"00025467"	"50"	"959"	"0"	"959"	"0"	"c.959G>A"	"r.(?)"	"p.(Arg320His)"	""
"0000475699"	"00025256"	"50"	"959"	"0"	"959"	"0"	"c.959G>A"	"r.(?)"	"p.(Arg320His)"	""
"0000475700"	"00025467"	"50"	"812"	"0"	"812"	"0"	"c.812A>G"	"r.(?)"	"p.(Lys271Arg)"	""
"0000475700"	"00025256"	"50"	"812"	"0"	"812"	"0"	"c.812A>G"	"r.(?)"	"p.(Lys271Arg)"	""
"0000475701"	"00025467"	"50"	"790"	"0"	"790"	"0"	"c.790C>T"	"r.(?)"	"p.(Arg264Cys)"	""
"0000475701"	"00025256"	"50"	"790"	"0"	"790"	"0"	"c.790C>T"	"r.(?)"	"p.(Arg264Cys)"	""
"0000475702"	"00025467"	"50"	"499"	"0"	"499"	"0"	"c.499G>A"	"r.(?)"	"p.(Val167Ile)"	""
"0000475702"	"00025256"	"50"	"499"	"0"	"499"	"0"	"c.499G>A"	"r.(?)"	"p.(Val167Ile)"	""
"0000507729"	"00025467"	"10"	"1896"	"-19"	"1896"	"-19"	"c.1896-19T>C"	"r.(=)"	"p.(=)"	""
"0000507729"	"00025256"	"10"	"1870"	"-19"	"1870"	"-19"	"c.1870-19T>C"	"r.(=)"	"p.(=)"	""
"0000507730"	"00025467"	"50"	"1825"	"0"	"1825"	"0"	"c.1825C>T"	"r.(?)"	"p.(Arg609Trp)"	""
"0000507730"	"00025256"	"50"	"1825"	"0"	"1825"	"0"	"c.1825C>T"	"r.(?)"	"p.(Arg609Trp)"	""
"0000507731"	"00025467"	"90"	"1785"	"1"	"1785"	"1"	"c.1785+1G>A"	"r.spl?"	"p.?"	""
"0000507731"	"00025256"	"90"	"1785"	"1"	"1785"	"1"	"c.1785+1G>A"	"r.spl?"	"p.?"	""
"0000507733"	"00025467"	"10"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000507733"	"00025256"	"10"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000507734"	"00025467"	"50"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000507734"	"00025256"	"50"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000507735"	"00025467"	"30"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000507735"	"00025256"	"30"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000507736"	"00025467"	"10"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000507736"	"00025256"	"10"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000507737"	"00025467"	"50"	"1540"	"-6"	"1540"	"-6"	"c.1540-6C>T"	"r.(=)"	"p.(=)"	""
"0000507737"	"00025256"	"50"	"1540"	"-6"	"1540"	"-6"	"c.1540-6C>T"	"r.(=)"	"p.(=)"	""
"0000507738"	"00025467"	"10"	"1540"	"-16"	"1540"	"-16"	"c.1540-16C>T"	"r.(=)"	"p.(=)"	""
"0000507738"	"00025256"	"10"	"1540"	"-16"	"1540"	"-16"	"c.1540-16C>T"	"r.(=)"	"p.(=)"	""
"0000507739"	"00025467"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000507739"	"00025256"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000507741"	"00025467"	"30"	"1257"	"0"	"1257"	"0"	"c.1257G>A"	"r.(?)"	"p.(Leu419=)"	""
"0000507741"	"00025256"	"30"	"1257"	"0"	"1257"	"0"	"c.1257G>A"	"r.(?)"	"p.(Leu419=)"	""
"0000507742"	"00025467"	"30"	"1128"	"0"	"1128"	"0"	"c.1128C>T"	"r.(?)"	"p.(Leu376=)"	""
"0000507742"	"00025256"	"30"	"1128"	"0"	"1128"	"0"	"c.1128C>T"	"r.(?)"	"p.(Leu376=)"	""
"0000507744"	"00025467"	"10"	"960"	"0"	"960"	"0"	"c.960C>G"	"r.(?)"	"p.(Arg320=)"	""
"0000507744"	"00025256"	"10"	"960"	"0"	"960"	"0"	"c.960C>G"	"r.(?)"	"p.(Arg320=)"	""
"0000507746"	"00025467"	"50"	"862"	"0"	"862"	"0"	"c.862G>A"	"r.(?)"	"p.(Glu288Lys)"	""
"0000507746"	"00025256"	"50"	"862"	"0"	"862"	"0"	"c.862G>A"	"r.(?)"	"p.(Glu288Lys)"	""
"0000507747"	"00025467"	"90"	"636"	"0"	"636"	"0"	"c.636C>T"	"r.(?)"	"p.(Phe212=)"	""
"0000507747"	"00025256"	"90"	"636"	"0"	"636"	"0"	"c.636C>T"	"r.(?)"	"p.(Phe212=)"	""
"0000507748"	"00025467"	"70"	"630"	"0"	"630"	"0"	"c.630G>T"	"r.(?)"	"p.(Trp210Cys)"	""
"0000507748"	"00025256"	"70"	"630"	"0"	"630"	"0"	"c.630G>T"	"r.(?)"	"p.(Trp210Cys)"	""
"0000507749"	"00025467"	"90"	"630"	"0"	"630"	"0"	"c.630G>T"	"r.(?)"	"p.(Trp210Cys)"	""
"0000507749"	"00025256"	"90"	"630"	"0"	"630"	"0"	"c.630G>T"	"r.(?)"	"p.(Trp210Cys)"	""
"0000507750"	"00025467"	"30"	"387"	"0"	"387"	"0"	"c.387G>A"	"r.(?)"	"p.(Arg129=)"	""
"0000507750"	"00025256"	"30"	"387"	"0"	"387"	"0"	"c.387G>A"	"r.(?)"	"p.(Arg129=)"	""
"0000507751"	"00025467"	"30"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Val101Ile)"	""
"0000507751"	"00025256"	"30"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Val101Ile)"	""
"0000507752"	"00025467"	"30"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Val101Ile)"	""
"0000507752"	"00025256"	"30"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Val101Ile)"	""
"0000507756"	"00025467"	"30"	"120"	"13"	"120"	"13"	"c.120+13C>T"	"r.(=)"	"p.(=)"	""
"0000507756"	"00025256"	"30"	"120"	"13"	"120"	"13"	"c.120+13C>T"	"r.(=)"	"p.(=)"	""
"0000507757"	"00025467"	"10"	"-11"	"0"	"-11"	"0"	"c.-11G>A"	"r.(?)"	"p.(=)"	""
"0000507757"	"00025256"	"10"	"-11"	"0"	"-11"	"0"	"c.-11G>A"	"r.(?)"	"p.(=)"	""
"0000507758"	"00025467"	"30"	"-21759"	"0"	"-21759"	"0"	"c.-21759T>C"	"r.(?)"	"p.(=)"	""
"0000507758"	"00025256"	"30"	"-390"	"0"	"-390"	"0"	"c.-390T>C"	"r.(?)"	"p.(=)"	""
"0000597783"	"00025256"	"70"	"636"	"0"	"636"	"0"	"c.636C>T"	"r.535_652del"	"p.Asp179Valfs*23"	"7"
"0000597816"	"00025467"	"90"	"1895"	"1"	"1895"	"1"	"c.1895+1G>T"	""	"p.?"	""
"0000597816"	"00025256"	"90"	"1869"	"27"	"1869"	"27"	"c.1869+27G>T"	"r.(=)"	"p.(=)"	""
"0000605811"	"00025467"	"30"	"2488"	"0"	"2488"	"0"	"c.*505G>A"	"r.(=)"	"p.(=)"	""
"0000605811"	"00025256"	"30"	"2201"	"0"	"2201"	"0"	"c.2201G>A"	"r.(?)"	"p.(Arg734Lys)"	""
"0000605812"	"00025467"	"30"	"1961"	"0"	"1961"	"0"	"c.1961C>T"	"r.(?)"	"p.(Pro654Leu)"	""
"0000605812"	"00025256"	"30"	"1935"	"0"	"1935"	"0"	"c.1935C>T"	"r.(?)"	"p.(Pro645=)"	""
"0000605813"	"00025467"	"30"	"960"	"0"	"960"	"0"	"c.960C>G"	"r.(?)"	"p.(Arg320=)"	""
"0000605813"	"00025256"	"30"	"960"	"0"	"960"	"0"	"c.960C>G"	"r.(?)"	"p.(Arg320=)"	""
"0000605814"	"00025467"	"30"	"816"	"0"	"816"	"0"	"c.816T>C"	"r.(?)"	"p.(Val272=)"	""
"0000605814"	"00025256"	"30"	"816"	"0"	"816"	"0"	"c.816T>C"	"r.(?)"	"p.(Val272=)"	""
"0000605815"	"00025467"	"50"	"419"	"0"	"419"	"0"	"c.419C>T"	"r.(?)"	"p.(Thr140Met)"	""
"0000605815"	"00025256"	"50"	"419"	"0"	"419"	"0"	"c.419C>T"	"r.(?)"	"p.(Thr140Met)"	""
"0000620655"	"00025467"	"70"	"1429"	"0"	"1430"	"0"	"c.1429_1430del"	"r.(?)"	"p.(Met477ValfsTer6)"	""
"0000620655"	"00025256"	"70"	"1429"	"0"	"1430"	"0"	"c.1429_1430del"	"r.(?)"	"p.(Met477ValfsTer6)"	""
"0000620656"	"00025467"	"50"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Ser280Asn)"	""
"0000620656"	"00025256"	"50"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Ser280Asn)"	""
"0000647726"	"00025467"	"30"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000647726"	"00025256"	"30"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000647727"	"00025467"	"70"	"1649"	"0"	"1649"	"0"	"c.1649G>A"	"r.(?)"	"p.(Ser550Asn)"	""
"0000647727"	"00025256"	"70"	"1649"	"0"	"1649"	"0"	"c.1649G>A"	"r.(?)"	"p.(Ser550Asn)"	""
"0000647728"	"00025467"	"50"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	""
"0000647728"	"00025256"	"50"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	""
"0000654055"	"00025467"	"30"	"1510"	"0"	"1510"	"0"	"c.1510G>A"	"r.(?)"	"p.(Val504Ile)"	""
"0000654055"	"00025256"	"30"	"1510"	"0"	"1510"	"0"	"c.1510G>A"	"r.(?)"	"p.(Val504Ile)"	""
"0000654056"	"00025467"	"50"	"550"	"0"	"550"	"0"	"c.550C>T"	"r.(?)"	"p.(His184Tyr)"	""
"0000654056"	"00025256"	"50"	"550"	"0"	"550"	"0"	"c.550C>T"	"r.(?)"	"p.(His184Tyr)"	""
"0000654057"	"00025467"	"50"	"461"	"0"	"461"	"0"	"c.461C>A"	"r.(?)"	"p.(Pro154His)"	""
"0000654057"	"00025256"	"50"	"461"	"0"	"461"	"0"	"c.461C>A"	"r.(?)"	"p.(Pro154His)"	""
"0000654058"	"00025467"	"10"	"121"	"-278"	"121"	"-278"	"c.121-278A>G"	"r.(=)"	"p.(=)"	""
"0000654058"	"00025256"	"10"	"121"	"-278"	"121"	"-278"	"c.121-278A>G"	"r.(=)"	"p.(=)"	""
"0000660430"	"00025467"	"90"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63*)"	""
"0000660430"	"00025256"	"90"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63*)"	""
"0000660431"	"00025467"	"90"	"860"	"0"	"860"	"0"	"c.860T>G"	"r.(?)"	"p.(Ile287Ser)"	""
"0000660431"	"00025256"	"90"	"860"	"0"	"860"	"0"	"c.860T>G"	"r.(?)"	"p.(Ile287Ser)"	""
"0000660432"	"00025467"	"90"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63*)"	""
"0000660432"	"00025256"	"90"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63*)"	""
"0000660433"	"00025467"	"90"	"860"	"0"	"860"	"0"	"c.860T>G"	"r.(?)"	"p.(Ile287Ser)"	""
"0000660433"	"00025256"	"90"	"860"	"0"	"860"	"0"	"c.860T>G"	"r.(?)"	"p.(Ile287Ser)"	""
"0000660452"	"00025467"	"90"	"466"	"0"	"466"	"0"	"c.466G>A"	"r.(?)"	"p.(Glu156Lys)"	""
"0000660452"	"00025256"	"90"	"466"	"0"	"466"	"0"	"c.466G>A"	"r.(?)"	"p.(Glu156Lys)"	""
"0000660453"	"00025467"	"90"	"1895"	"1"	"1895"	"1"	"c.1895+1G>A"	"r.spl"	"p.(Val633*)"	""
"0000660453"	"00025256"	"90"	"1869"	"27"	"1869"	"27"	"c.1869+27G>A"	"r.(=)"	"p.(=)"	""
"0000660454"	"00025467"	"90"	"1505"	"0"	"1505"	"0"	"c.1505G>C"	"r.(?)"	"p.(Gly502Ala)"	""
"0000660454"	"00025256"	"90"	"1505"	"0"	"1505"	"0"	"c.1505G>C"	"r.(?)"	"p.(Gly502Ala)"	""
"0000668257"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	""
"0000688196"	"00025467"	"30"	"421"	"-7"	"421"	"-7"	"c.421-7C>A"	"r.(=)"	"p.(=)"	""
"0000688196"	"00025256"	"30"	"421"	"-7"	"421"	"-7"	"c.421-7C>A"	"r.(=)"	"p.(=)"	""
"0000717539"	"00025467"	"30"	"2330"	"0"	"2330"	"0"	"c.*347G>A"	"r.(=)"	"p.(=)"	""
"0000717539"	"00025256"	"30"	"2043"	"0"	"2043"	"0"	"c.2043G>A"	"r.(?)"	"p.(Pro681=)"	""
"0000717540"	"00025467"	"30"	"1377"	"0"	"1377"	"0"	"c.1377G>A"	"r.(?)"	"p.(Lys459=)"	""
"0000717540"	"00025256"	"30"	"1377"	"0"	"1377"	"0"	"c.1377G>A"	"r.(?)"	"p.(Lys459=)"	""
"0000717541"	"00025467"	"30"	"1285"	"-6"	"1285"	"-6"	"c.1285-6C>T"	"r.(=)"	"p.(=)"	""
"0000717541"	"00025256"	"30"	"1285"	"-6"	"1285"	"-6"	"c.1285-6C>T"	"r.(=)"	"p.(=)"	""
"0000717542"	"00025467"	"50"	"251"	"0"	"251"	"0"	"c.251G>A"	"r.(?)"	"p.(Arg84His)"	""
"0000717542"	"00025256"	"50"	"251"	"0"	"251"	"0"	"c.251G>A"	"r.(?)"	"p.(Arg84His)"	""
"0000733261"	"00025256"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	""
"0000733664"	"00025256"	"70"	"622"	"0"	"622"	"0"	"c.622G>A"	"r.(?)"	"p.(Asp208Asn)"	""
"0000761013"	"00025467"	"70"	"386"	"0"	"386"	"0"	"c.386G>A"	"r.(?)"	"p.(Arg129Gln)"	""
"0000761013"	"00025256"	"70"	"386"	"0"	"386"	"0"	"c.386G>A"	"r.(?)"	"p.(Arg129Gln)"	""
"0000786993"	"00025256"	"70"	"617"	"0"	"617"	"0"	"c.617G>A"	"r.(?)"	"p.(Trp206Ter)"	"7"
"0000799403"	"00025467"	"50"	"1880"	"0"	"1880"	"0"	"c.1880C>T"	"r.(?)"	"p.(Pro627Leu)"	""
"0000799403"	"00025256"	"50"	"1869"	"11"	"1869"	"11"	"c.1869+11C>T"	"r.(=)"	"p.(=)"	""
"0000799404"	"00025467"	"30"	"1098"	"0"	"1098"	"0"	"c.1098C>A"	"r.(?)"	"p.(Ala366=)"	""
"0000799404"	"00025256"	"30"	"1098"	"0"	"1098"	"0"	"c.1098C>A"	"r.(?)"	"p.(Ala366=)"	""
"0000799405"	"00025467"	"30"	"333"	"0"	"333"	"0"	"c.333T>C"	"r.(?)"	"p.(Tyr111=)"	""
"0000799405"	"00025256"	"30"	"333"	"0"	"333"	"0"	"c.333T>C"	"r.(?)"	"p.(Tyr111=)"	""
"0000799406"	"00025467"	"50"	"275"	"0"	"275"	"0"	"c.275G>T"	"r.(?)"	"p.(Gly92Val)"	""
"0000799406"	"00025256"	"50"	"275"	"0"	"275"	"0"	"c.275G>T"	"r.(?)"	"p.(Gly92Val)"	""
"0000814273"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000814273"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"4"
"0000814274"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000814274"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"4"
"0000817888"	"00025256"	"70"	"1513"	"0"	"1513"	"0"	"c.1513G>A"	"r.(?)"	"p.(Gly505Ser)"	""
"0000818620"	"00025467"	"70"	"1011"	"0"	"1011"	"0"	"c.1011dup"	"r.(?)"	"p.(Asp338*)"	""
"0000818620"	"00025256"	"70"	"1011"	"0"	"1011"	"0"	"c.1011dup"	"r.(?)"	"p.(Asp338*)"	"11"
"0000818621"	"00025467"	"70"	"1385"	"0"	"1385"	"0"	"c.1385T>A"	"r.(?)"	"p.(Leu462His)"	""
"0000818621"	"00025256"	"70"	"1385"	"0"	"1385"	"0"	"c.1385T>A"	"r.(?)"	"p.(Leu462His)"	"16"
"0000818992"	"00025467"	"70"	"1768"	"0"	"1768"	"0"	"c.1768T>C"	"r.(?)"	"p.(Trp590Arg)"	""
"0000818992"	"00025256"	"70"	"1768"	"0"	"1768"	"0"	"c.1768T>C"	"r.(?)"	"p.(Trp590Arg)"	"20"
"0000818994"	"00025467"	"70"	"1011"	"0"	"1011"	"0"	"c.1011dup"	"r.(?)"	"p.(Asp338*)"	""
"0000818994"	"00025256"	"70"	"1011"	"0"	"1011"	"0"	"c.1011dup"	"r.(?)"	"p.(Asp338*)"	"11"
"0000821038"	"00025256"	"90"	"304"	"0"	"304"	"0"	"c.304G>T"	"r.(?)"	"p.(Glu102Ter)"	"4"
"0000821039"	"00025256"	"90"	"304"	"0"	"304"	"0"	"c.304G>T"	"r.(?)"	"p.(Glu102Ter)"	"4"
"0000821049"	"00025256"	"70"	"385"	"0"	"385"	"0"	"c.385C>T"	"r.(?)"	"p.(Arg129Trp)"	"5"
"0000821050"	"00025256"	"70"	"385"	"0"	"385"	"0"	"c.385C>T"	"r.(?)"	"p.(Arg129Trp)"	"5"
"0000821068"	"00025256"	"90"	"935"	"0"	"935"	"0"	"c.935C>T"	"r.(?)"	"p.(Pro312Leu)"	""
"0000821713"	"00025256"	"90"	"1319"	"0"	"1319"	"0"	"c.1319T>G"	"r.(?)"	"p.(Leu440Arg)"	""
"0000821714"	"00025256"	"90"	"1540"	"-1"	"1649"	"1"	"c.(1539+1_1540-1)_(1649+1_1650-1)del"	"r.?"	"p.?"	"17i_19i"
"0000821715"	"00025256"	"90"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	""
"0000821716"	"00025256"	"90"	"794"	"0"	"794"	"0"	"c.794G>C"	"r.(?)"	"p.(Arg265Pro)"	""
"0000821717"	"00025256"	"90"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	""
"0000821718"	"00025256"	"90"	"1873"	"0"	"1873"	"0"	"c.1873G>A"	"r.(?)"	"p.(Glu625Lys)"	""
"0000821719"	"00025256"	"90"	"1425"	"0"	"1425"	"0"	"c.1425G>T"	"r.(?)"	"p.(Trp475Cys)"	""
"0000821720"	"00025256"	"90"	"794"	"0"	"794"	"0"	"c.794G>C"	"r.(?)"	"p.(Arg265Pro)"	""
"0000821721"	"00025256"	"90"	"794"	"0"	"794"	"0"	"c.794G>C"	"r.(?)"	"p.(Arg265Pro)"	""
"0000821722"	"00025256"	"90"	"1787"	"0"	"1787"	"0"	"c.1787G>T"	"c.667G>A c.56G>A"	"p.(Cys596Phe)"	""
"0000821723"	"00025256"	"90"	"575"	"0"	"575"	"0"	"c.575T>C"	"r.(?)"	"p.(Leu192Pro)"	""
"0000821724"	"00025256"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>C"	"r.(?)"	"p.(Arg605Pro)"	""
"0000821725"	"00025256"	"90"	"637"	"0"	"637"	"0"	"c.637G>A"	"r.(?)"	"p.(Val213Met)"	""
"0000821726"	"00025256"	"90"	"796"	"0"	"796"	"0"	"c.796C>T"	"r.(?)"	"p.(Arg266Trp)"	""
"0000821845"	"00025256"	"90"	"421"	"-1"	"879"	"1"	"c.(420+1_421-1)_(879+1_880-1)del"	"r.?"	"p.?"	"5i_9i"
"0000821846"	"00025256"	"90"	"1540"	"-1"	"1649"	"1"	"c.(1539+1_1540-1)_(1649+1_1650-1)del"	"r.?"	"p.?"	"17i_19i"
"0000821847"	"00025256"	"90"	"1540"	"-1"	"1649"	"1"	"c.(1539+1_1540-1)_(1649+1_1650-1)del"	"r.?"	"p.?"	"17i_19i"
"0000821848"	"00025256"	"90"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63Ter)"	""
"0000821849"	"00025256"	"90"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.(?)"	"p.(Arg442His)"	""
"0000821850"	"00025256"	"90"	"794"	"0"	"794"	"0"	"c.794G>C"	"r.(?)"	"p.(Arg265Pro)"	""
"0000821851"	"00025256"	"90"	"1605"	"-1"	"1649"	"1"	"c.(1604+1_1605-1)_(1649+1_1650-1)del"	"r.?"	"p.?"	"18i_19i"
"0000821852"	"00025256"	"90"	"511"	"0"	"511"	"0"	"c.511C>T"	"r.(?)"	"p.(Arg171Ter)"	""
"0000821853"	"00025256"	"90"	"667"	"0"	"667"	"0"	"c.667G>A"	"r.(?)"	"p.(Glu223Lys)"	""
"0000821854"	"00025256"	"90"	"1325"	"0"	"1325"	"0"	"c.1325G>T"	"r.(?)"	"p.(Arg442Leu)"	""
"0000821855"	"00025256"	"90"	"1513"	"0"	"1513"	"0"	"c.1513G>A"	"r.(?)"	"p.(Gly505Ser)"	""
"0000821856"	"00025256"	"90"	"528"	"0"	"528"	"0"	"c.528dup"	"r.(?)"	"p.(Val177CysfsTer4)"	""
"0000821917"	"00025256"	"50"	"56"	"0"	"56"	"0"	"c.56G>A"	"r.(?)"	"p.(Arg19Gln)"	""
"0000824599"	"00025467"	"70"	"1274"	"0"	"1274"	"0"	"c.1274G>C"	"r.(?)"	"p.(Trp425Ser)"	""
"0000824599"	"00025256"	"70"	"1274"	"0"	"1274"	"0"	"c.1274G>C"	"r.(?)"	"p.(Trp425Ser)"	""
"0000824602"	"00025467"	"70"	"1274"	"0"	"1274"	"0"	"c.1274G>C"	"r.(?)"	"p.(Trp425Ser)"	"15"
"0000824602"	"00025256"	"70"	"1274"	"0"	"1274"	"0"	"c.1274G>C"	"r.(?)"	"p.(Trp425Ser)"	"15"
"0000827315"	"00025256"	"90"	"351"	"0"	"351"	"0"	"c.351del"	"r.(?)"	"p.(Thr118Argfs*26)"	"4"
"0000827316"	"00025256"	"70"	"1415"	"0"	"1415"	"0"	"c.1415T>C"	"r.(?)"	"p.(Leu472Pro)"	"17"
"0000848759"	"00025467"	"50"	"1483"	"0"	"1483"	"0"	"c.1483G>A"	"r.(?)"	"p.(Val495Ile)"	""
"0000848759"	"00025256"	"50"	"1483"	"0"	"1483"	"0"	"c.1483G>A"	"r.(?)"	"p.(Val495Ile)"	""
"0000848760"	"00025467"	"30"	"534"	"15"	"534"	"15"	"c.534+15C>T"	"r.(=)"	"p.(=)"	""
"0000848760"	"00025256"	"30"	"534"	"15"	"534"	"15"	"c.534+15C>T"	"r.(=)"	"p.(=)"	""
"0000857522"	"00025467"	"30"	"1540"	"-16"	"1540"	"-16"	"c.1540-16C>T"	"r.(=)"	"p.(=)"	""
"0000857522"	"00025256"	"30"	"1540"	"-16"	"1540"	"-16"	"c.1540-16C>T"	"r.(=)"	"p.(=)"	""
"0000857523"	"00025467"	"30"	"1510"	"0"	"1510"	"0"	"c.1510G>A"	"r.(?)"	"p.(Val504Ile)"	""
"0000857523"	"00025256"	"30"	"1510"	"0"	"1510"	"0"	"c.1510G>A"	"r.(?)"	"p.(Val504Ile)"	""
"0000857524"	"00025467"	"50"	"251"	"0"	"251"	"0"	"c.251G>T"	"r.(?)"	"p.(Arg84Leu)"	""
"0000857524"	"00025256"	"50"	"251"	"0"	"251"	"0"	"c.251G>T"	"r.(?)"	"p.(Arg84Leu)"	""
"0000868657"	"00025256"	"70"	"0"	"0"	"0"	"0"	"c.0?"	"r.0?"	"p.0?"	"1"
"0000868658"	"00025467"	"70"	"594"	"0"	"594"	"0"	"c.594C>G"	"r.(?)"	"p.(Ser198Arg)"	""
"0000868658"	"00025256"	"70"	"594"	"0"	"594"	"0"	"c.594C>G"	"r.(?)"	"p.(Ser198Arg)"	""
"0000868659"	"00025467"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	""
"0000868659"	"00025256"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	""
"0000868660"	"00025467"	"70"	"667"	"0"	"667"	"0"	"c.667G>A"	"r.(?)"	"p.(Glu223Lys)"	""
"0000868660"	"00025256"	"70"	"667"	"0"	"667"	"0"	"c.667G>A"	"r.(?)"	"p.(Glu223Lys)"	""
"0000868661"	"00025467"	"70"	"447"	"0"	"447"	"0"	"c.447del"	"r.(?)"	"p.(Phe149LeufsTer19)"	""
"0000868661"	"00025256"	"70"	"445"	"0"	"445"	"0"	"c.445del"	"r.(?)"	"p.(Phe149Leufs*19)"	""
"0000868662"	"00025467"	"70"	"667"	"0"	"667"	"0"	"c.667G>A"	"r.(?)"	"p.(Glu223Lys)"	""
"0000868662"	"00025256"	"70"	"667"	"0"	"667"	"0"	"c.667G>A"	"r.(?)"	"p.(Glu223Lys)"	""
"0000868663"	"00025467"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.(?)"	"p.?"	""
"0000868663"	"00025256"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000868664"	"00025467"	"70"	"806"	"0"	"806"	"0"	"c.806G>A"	"r.(?)"	"p.(Cys269Tyr)"	""
"0000868664"	"00025256"	"70"	"806"	"0"	"806"	"0"	"c.806G>A"	"r.(?)"	"p.(Cys269Tyr)"	""
"0000868665"	"00025467"	"70"	"982"	"0"	"982"	"0"	"c.982dup"	"r.(?)"	"p.(Val328GlyfsTer11)"	""
"0000868665"	"00025256"	"70"	"978"	"0"	"978"	"0"	"c.978dup"	"r.(?)"	"p.(Val328Glyfs*11)"	""
"0000868666"	"00025467"	"70"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	""
"0000868666"	"00025256"	"70"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	""
"0000868667"	"00025467"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000868667"	"00025256"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000868668"	"00025467"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000868668"	"00025256"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000868669"	"00025467"	"70"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	""
"0000868669"	"00025256"	"70"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	""
"0000868670"	"00025467"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000868670"	"00025256"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000868671"	"00025467"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000868671"	"00025256"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000868672"	"00025467"	"70"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	""
"0000868672"	"00025256"	"70"	"794"	"0"	"794"	"0"	"c.794G>A"	"r.(?)"	"p.(Arg265His)"	""
"0000868673"	"00025467"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000868673"	"00025256"	"70"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000868674"	"00025467"	"70"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	""
"0000868674"	"00025256"	"70"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	""
"0000868675"	"00025467"	"70"	"1274"	"0"	"1274"	"0"	"c.1274G>C"	"r.(?)"	"p.(Trp425Ser)"	""
"0000868675"	"00025256"	"70"	"1274"	"0"	"1274"	"0"	"c.1274G>C"	"r.(?)"	"p.(Trp425Ser)"	""
"0000868676"	"00025467"	"70"	"1895"	"5"	"1895"	"8"	"c.1895+5_1895+8del"	"r.(?)"	"p.?"	""
"0000868676"	"00025256"	"70"	"1869"	"27"	"1869"	"30"	"c.1869+27_1869+30del"	"r.(=)"	"p.(=)"	""
"0000868677"	"00025467"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000868677"	"00025256"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000868678"	"00025467"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000868678"	"00025256"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000868679"	"00025467"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000868679"	"00025256"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000868680"	"00025467"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000868680"	"00025256"	"70"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Cys)"	""
"0000868681"	"00025467"	"70"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.(?)"	"p.(Arg442His)"	""
"0000868681"	"00025256"	"70"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.(?)"	"p.(Arg442His)"	""
"0000868682"	"00025467"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	""
"0000868682"	"00025256"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	""
"0000868683"	"00025467"	"70"	"652"	"1"	"652"	"1"	"c.652+1G>A"	"r.(?)"	"p.?"	""
"0000868683"	"00025256"	"70"	"652"	"1"	"652"	"1"	"c.652+1G>A"	"r.spl?"	"p.?"	""
"0000868684"	"00025467"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	""
"0000868684"	"00025256"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	""
"0000868685"	"00025467"	"70"	"1478"	"0"	"1478"	"0"	"c.1478C>G"	"r.(?)"	"p.(Pro493Arg)"	""
"0000868685"	"00025256"	"70"	"1478"	"0"	"1478"	"0"	"c.1478C>G"	"r.(?)"	"p.(Pro493Arg)"	""
"0000868686"	"00025467"	"70"	"1876"	"0"	"1876"	"0"	"c.1876del"	"r.(?)"	"p.(Val626SerfsTer8)"	""
"0000868686"	"00025256"	"70"	"1869"	"3"	"1869"	"3"	"c.1869+3del"	"r.(=)"	"p.(=)"	""
"0000868687"	"00025467"	"70"	"1769"	"0"	"1769"	"0"	"c.1769G>A"	"r.(?)"	"p.(Trp590Ter)"	""
"0000868687"	"00025256"	"70"	"1769"	"0"	"1769"	"0"	"c.1769G>A"	"r.(?)"	"p.(Trp590*)"	""
"0000868688"	"00025467"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	""
"0000868688"	"00025256"	"70"	"1469"	"0"	"1469"	"0"	"c.1469G>A"	"r.(?)"	"p.(Cys490Tyr)"	""
"0000868689"	"00025467"	"70"	"1738"	"0"	"1738"	"0"	"c.1738C>T"	"r.(?)"	"p.(Arg580Ter)"	""
"0000868689"	"00025256"	"70"	"1738"	"0"	"1738"	"0"	"c.1738C>T"	"r.(?)"	"p.(Arg580*)"	""
"0000868690"	"00025467"	"70"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	""
"0000868690"	"00025256"	"70"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	""
"0000868691"	"00025467"	"70"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	""
"0000868691"	"00025256"	"70"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Arg605His)"	""
"0000868692"	"00025467"	"70"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000868692"	"00025256"	"70"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Asp556Asn)"	""
"0000868694"	"00025467"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	""
"0000868694"	"00025256"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	""
"0000868703"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868703"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868704"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868704"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868705"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868705"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868706"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868706"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868707"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868707"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868708"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868708"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868709"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868709"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868710"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868710"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868711"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868711"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868712"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868712"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868713"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868713"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868714"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868714"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868715"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868715"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868716"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868716"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868717"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868717"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868718"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868718"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868719"	"00025467"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	"5"
"0000868719"	"00025256"	"70"	"359"	"0"	"359"	"0"	"c.359T>G"	"r.(?)"	"p.(Leu120Arg)"	""
"0000868723"	"00025467"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.(?)"	"p.(Leu472_His513del)"	""
"0000868723"	"00025256"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000868724"	"00025467"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.(?)"	"p.(Leu472_His513del)"	""
"0000868724"	"00025256"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000868726"	"00025467"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.(?)"	"p.(Leu472_His513del)"	""
"0000868726"	"00025256"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000868727"	"00025467"	"70"	"385"	"0"	"385"	"0"	"c.385C>T"	"r.(?)"	"p.(Arg129Trp)"	""
"0000868727"	"00025256"	"70"	"385"	"0"	"385"	"0"	"c.385C>T"	"r.(?)"	"p.(Arg129Trp)"	""
"0000868728"	"00025467"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.(?)"	"p.(Leu472_His513del)"	""
"0000868728"	"00025256"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl?"	"p.?"	""
"0000868729"	"00025467"	"70"	"1895"	"1"	"1895"	"1"	"c.1895+1G>T"	"r.(?)"	"p.?"	""
"0000868729"	"00025256"	"70"	"1869"	"27"	"1869"	"27"	"c.1869+27G>T"	"r.(=)"	"p.(=)"	""
"0000883484"	"00025467"	"30"	"1298"	"0"	"1298"	"0"	"c.1298C>T"	"r.(?)"	"p.(Thr433Met)"	""
"0000883484"	"00025256"	"30"	"1298"	"0"	"1298"	"0"	"c.1298C>T"	"r.(?)"	"p.(Thr433Met)"	""
"0000883485"	"00025467"	"30"	"120"	"13"	"120"	"13"	"c.120+13C>T"	"r.(=)"	"p.(=)"	""
"0000883485"	"00025256"	"30"	"120"	"13"	"120"	"13"	"c.120+13C>T"	"r.(=)"	"p.(=)"	""
"0000905870"	"00025467"	"50"	"244"	"0"	"244"	"0"	"c.244C>G"	"r.(?)"	"p.(Leu82Val)"	""
"0000905870"	"00025256"	"50"	"244"	"0"	"244"	"0"	"c.244C>G"	"r.(?)"	"p.(Leu82Val)"	""
"0000916582"	"00025256"	"90"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Arg63*)"	"3"
"0000916583"	"00025256"	"50"	"860"	"0"	"860"	"0"	"c.860T>G"	"r.(?)"	"p.(Ile287Ser)"	"9"
"0000917105"	"00025256"	"90"	"643"	"0"	"643"	"0"	"c.643C>T"	"r.(?)"	"p.(Arg215Ter)"	""
"0000920647"	"00025467"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	""
"0000920647"	"00025256"	"90"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.spl"	"p.?"	""
"0000936110"	"00025256"	"90"	"643"	"0"	"643"	"0"	"c.643C>T"	"r.(?)"	"p.(Arg215Ter)"	""
"0000947264"	"00025467"	"50"	"1649"	"1"	"1649"	"1"	"c.1649+1G>A"	"r.spl?"	"p.?"	""
"0000947264"	"00025256"	"50"	"1649"	"1"	"1649"	"1"	"c.1649+1G>A"	"r.spl?"	"p.?"	""
"0000947265"	"00025467"	"50"	"1409"	"0"	"1409"	"0"	"c.1409A>G"	"r.(?)"	"p.(Glu470Gly)"	""
"0000947265"	"00025256"	"50"	"1409"	"0"	"1409"	"0"	"c.1409A>G"	"r.(?)"	"p.(Glu470Gly)"	""
"0000947266"	"00025467"	"10"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Val101Ile)"	""
"0000947266"	"00025256"	"10"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Val101Ile)"	""
"0000959066"	"00025467"	"90"	"1489"	"0"	"1489"	"0"	"c.1489C>T"	"r.(?)"	"p.(Arg497Ter)"	""
"0000961076"	"00025467"	"30"	"2017"	"0"	"2017"	"0"	"c.*34G>A"	"r.(=)"	"p.(=)"	""
"0000961076"	"00025256"	"30"	"1985"	"6"	"1985"	"6"	"c.1985+6G>A"	"r.(=)"	"p.(=)"	""
"0000974016"	"00025467"	"30"	"1211"	"8"	"1211"	"8"	"c.1211+8G>T"	"r.(=)"	"p.(=)"	""
"0000974016"	"00025256"	"30"	"1211"	"8"	"1211"	"8"	"c.1211+8G>T"	"r.(=)"	"p.(=)"	""
"0000974017"	"00025467"	"50"	"73"	"0"	"73"	"0"	"c.73T>G"	"r.(?)"	"p.(Trp25Gly)"	""
"0000974017"	"00025256"	"50"	"73"	"0"	"73"	"0"	"c.73T>G"	"r.(?)"	"p.(Trp25Gly)"	""
"0000991323"	"00025467"	"50"	"1157"	"0"	"1157"	"0"	"c.1157C>G"	"r.(?)"	"p.(Ala386Gly)"	""
"0000991323"	"00025256"	"50"	"1157"	"0"	"1157"	"0"	"c.1157C>G"	"r.(?)"	"p.(Ala386Gly)"	""
"0001016524"	"00025467"	"50"	"251"	"0"	"251"	"0"	"c.251G>T"	"r.(?)"	"p.(Arg84Leu)"	""
"0001016525"	"00025467"	"70"	"1539"	"1"	"1539"	"1"	"c.1539+1G>A"	"r.(?)"	"p.(?)"	""
"0001032102"	"00025467"	"90"	"1895"	"1"	"1895"	"1"	"c.1895+1G>A"	"r.spl?"	"p.?"	""
"0001032102"	"00025256"	"90"	"1869"	"27"	"1869"	"27"	"c.1869+27G>A"	"r.(=)"	"p.(=)"	""
"0001032103"	"00025467"	"50"	"811"	"0"	"811"	"0"	"c.811A>G"	"r.(?)"	"p.(Lys271Glu)"	""
"0001032103"	"00025256"	"50"	"811"	"0"	"811"	"0"	"c.811A>G"	"r.(?)"	"p.(Lys271Glu)"	""
"0001032104"	"00025467"	"70"	"776"	"0"	"777"	"0"	"c.776_777del"	"r.(?)"	"p.(Thr259Argfs*14)"	""
"0001032104"	"00025256"	"70"	"776"	"0"	"777"	"0"	"c.776_777del"	"r.(?)"	"p.(Thr259Argfs*14)"	""
"0001032105"	"00025467"	"30"	"121"	"-228"	"121"	"-228"	"c.121-228A>G"	"r.(=)"	"p.(=)"	""
"0001032105"	"00025256"	"30"	"121"	"-228"	"121"	"-228"	"c.121-228A>G"	"r.(=)"	"p.(=)"	""
"0001032106"	"00025467"	"30"	"-21420"	"0"	"-21420"	"0"	"c.-21420G>A"	"r.(?)"	"p.(=)"	""
"0001032106"	"00025256"	"30"	"-51"	"0"	"-51"	"0"	"c.-51G>A"	"r.(?)"	"p.(=)"	""
"0001050105"	"00025467"	"50"	"1456"	"0"	"1456"	"0"	"c.1456C>G"	"r.(?)"	"p.(Arg486Gly)"	""
"0001050105"	"00025256"	"50"	"1456"	"0"	"1456"	"0"	"c.1456C>G"	"r.(?)"	"p.(Arg486Gly)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 402
"{{screeningid}}"	"{{variantid}}"
"0000000061"	"0000000129"
"0000000076"	"0000000130"
"0000095583"	"0000154171"
"0000095584"	"0000154172"
"0000095584"	"0000352497"
"0000095586"	"0000154174"
"0000095586"	"0000352498"
"0000152323"	"0000352336"
"0000152987"	"0000351826"
"0000152988"	"0000351827"
"0000152989"	"0000351828"
"0000152990"	"0000351829"
"0000152991"	"0000351830"
"0000152992"	"0000351831"
"0000152992"	"0000351832"
"0000152994"	"0000351835"
"0000152995"	"0000351837"
"0000152996"	"0000351839"
"0000152997"	"0000351841"
"0000152998"	"0000351843"
"0000152999"	"0000351845"
"0000153000"	"0000351847"
"0000153001"	"0000351849"
"0000153002"	"0000351851"
"0000153002"	"0000351852"
"0000153003"	"0000351853"
"0000153004"	"0000351855"
"0000153005"	"0000351857"
"0000153006"	"0000351859"
"0000153007"	"0000351861"
"0000153008"	"0000351863"
"0000153008"	"0000351864"
"0000153009"	"0000351865"
"0000153009"	"0000351866"
"0000153010"	"0000351867"
"0000153010"	"0000351868"
"0000153010"	"0000351869"
"0000153011"	"0000351870"
"0000153011"	"0000351871"
"0000153012"	"0000351872"
"0000153012"	"0000351873"
"0000153013"	"0000351874"
"0000153013"	"0000351875"
"0000153014"	"0000351876"
"0000153014"	"0000351877"
"0000153015"	"0000351878"
"0000153015"	"0000351879"
"0000153016"	"0000351880"
"0000153016"	"0000351881"
"0000153017"	"0000351882"
"0000153017"	"0000351883"
"0000153018"	"0000351884"
"0000153018"	"0000351885"
"0000153019"	"0000351886"
"0000153019"	"0000351887"
"0000153020"	"0000351888"
"0000153020"	"0000351889"
"0000153021"	"0000351890"
"0000153021"	"0000351891"
"0000153022"	"0000351892"
"0000153023"	"0000351893"
"0000153024"	"0000351894"
"0000153024"	"0000351895"
"0000153025"	"0000351896"
"0000153026"	"0000351897"
"0000153026"	"0000351898"
"0000153027"	"0000351899"
"0000153028"	"0000351901"
"0000153029"	"0000351903"
"0000153030"	"0000351905"
"0000153031"	"0000351907"
"0000153032"	"0000351908"
"0000153033"	"0000351909"
"0000153034"	"0000351910"
"0000153035"	"0000351911"
"0000153036"	"0000351912"
"0000153037"	"0000351913"
"0000153038"	"0000351914"
"0000153039"	"0000351915"
"0000153040"	"0000351917"
"0000153041"	"0000351918"
"0000153041"	"0000351919"
"0000153042"	"0000351920"
"0000153042"	"0000351921"
"0000153043"	"0000351922"
"0000153043"	"0000351923"
"0000153044"	"0000351924"
"0000153044"	"0000351925"
"0000153045"	"0000351926"
"0000153045"	"0000351927"
"0000153045"	"0000351928"
"0000153046"	"0000351929"
"0000153046"	"0000351930"
"0000153047"	"0000351931"
"0000153048"	"0000351933"
"0000153049"	"0000351935"
"0000153050"	"0000351937"
"0000153052"	"0000351941"
"0000153053"	"0000351943"
"0000153054"	"0000351945"
"0000153055"	"0000351947"
"0000153055"	"0000351948"
"0000153056"	"0000351949"
"0000153056"	"0000351950"
"0000153057"	"0000351951"
"0000153058"	"0000351953"
"0000153058"	"0000351954"
"0000153059"	"0000351955"
"0000153059"	"0000351956"
"0000153060"	"0000351957"
"0000153060"	"0000351958"
"0000153060"	"0000351959"
"0000153061"	"0000351960"
"0000153061"	"0000351961"
"0000153062"	"0000351962"
"0000153063"	"0000351963"
"0000153064"	"0000351964"
"0000153064"	"0000351965"
"0000153065"	"0000351966"
"0000153065"	"0000351967"
"0000153066"	"0000351968"
"0000153067"	"0000351970"
"0000153067"	"0000351971"
"0000153068"	"0000351972"
"0000153068"	"0000351973"
"0000153069"	"0000351974"
"0000153069"	"0000351975"
"0000153070"	"0000351976"
"0000153071"	"0000351977"
"0000153072"	"0000351978"
"0000153073"	"0000351979"
"0000153074"	"0000351980"
"0000153075"	"0000351981"
"0000153076"	"0000351982"
"0000153077"	"0000351983"
"0000153078"	"0000351984"
"0000153079"	"0000351985"
"0000153080"	"0000351986"
"0000153081"	"0000351987"
"0000153082"	"0000351988"
"0000153083"	"0000351989"
"0000153084"	"0000351990"
"0000153085"	"0000351991"
"0000153086"	"0000351992"
"0000153087"	"0000351993"
"0000153088"	"0000351994"
"0000153089"	"0000351995"
"0000153089"	"0000351996"
"0000153090"	"0000351997"
"0000153090"	"0000351998"
"0000153396"	"0000352499"
"0000153396"	"0000352500"
"0000153399"	"0000352503"
"0000153399"	"0000352504"
"0000153400"	"0000352505"
"0000153400"	"0000352506"
"0000153401"	"0000352507"
"0000153402"	"0000352508"
"0000153402"	"0000352509"
"0000153403"	"0000352510"
"0000153403"	"0000352511"
"0000153404"	"0000352512"
"0000153404"	"0000352513"
"0000153405"	"0000352514"
"0000153406"	"0000352515"
"0000153407"	"0000352516"
"0000153408"	"0000352517"
"0000153409"	"0000352518"
"0000153409"	"0000352519"
"0000153410"	"0000352520"
"0000153411"	"0000352521"
"0000153412"	"0000352522"
"0000153413"	"0000352523"
"0000153414"	"0000352524"
"0000153415"	"0000352525"
"0000153416"	"0000352526"
"0000153417"	"0000352527"
"0000153418"	"0000352528"
"0000153419"	"0000352529"
"0000153420"	"0000352530"
"0000153420"	"0000352531"
"0000153420"	"0000352532"
"0000153421"	"0000352533"
"0000153421"	"0000352534"
"0000153421"	"0000352535"
"0000153422"	"0000352536"
"0000153423"	"0000352537"
"0000153423"	"0000352538"
"0000153424"	"0000352539"
"0000153425"	"0000352540"
"0000153426"	"0000352541"
"0000153426"	"0000352542"
"0000153427"	"0000352543"
"0000153427"	"0000352544"
"0000153428"	"0000352545"
"0000153429"	"0000352546"
"0000153429"	"0000352547"
"0000153431"	"0000352552"
"0000153431"	"0000352553"
"0000153533"	"0000352677"
"0000153534"	"0000352678"
"0000153535"	"0000352679"
"0000153535"	"0000352680"
"0000153536"	"0000352681"
"0000153536"	"0000352682"
"0000153537"	"0000352683"
"0000153538"	"0000352684"
"0000219115"	"0000453953"
"0000219115"	"0000453954"
"0000220663"	"0000464826"
"0000220730"	"0000464827"
"0000220752"	"0000464828"
"0000220816"	"0000464829"
"0000220824"	"0000464830"
"0000221010"	"0000464831"
"0000221091"	"0000464832"
"0000221155"	"0000464833"
"0000221185"	"0000464834"
"0000221456"	"0000464835"
"0000221580"	"0000464836"
"0000221607"	"0000464837"
"0000221611"	"0000464838"
"0000221639"	"0000464839"
"0000221655"	"0000464840"
"0000221699"	"0000464841"
"0000221710"	"0000464842"
"0000221744"	"0000464843"
"0000221760"	"0000464844"
"0000221910"	"0000464845"
"0000221943"	"0000464846"
"0000222154"	"0000464847"
"0000222175"	"0000464848"
"0000222204"	"0000464849"
"0000222337"	"0000464850"
"0000222367"	"0000464851"
"0000222378"	"0000464852"
"0000222451"	"0000464853"
"0000222498"	"0000464854"
"0000222506"	"0000464855"
"0000222516"	"0000464856"
"0000222607"	"0000464857"
"0000222629"	"0000464858"
"0000222641"	"0000464859"
"0000222684"	"0000464860"
"0000222754"	"0000464861"
"0000222811"	"0000464862"
"0000222908"	"0000464863"
"0000222911"	"0000464864"
"0000222942"	"0000464865"
"0000222942"	"0000464866"
"0000222956"	"0000464867"
"0000222957"	"0000464868"
"0000223027"	"0000464869"
"0000223028"	"0000464870"
"0000223121"	"0000464871"
"0000223137"	"0000464872"
"0000223153"	"0000464873"
"0000223397"	"0000464874"
"0000223536"	"0000464875"
"0000223604"	"0000464876"
"0000223643"	"0000464877"
"0000223651"	"0000464878"
"0000223717"	"0000464879"
"0000223726"	"0000464880"
"0000223737"	"0000464881"
"0000223763"	"0000464882"
"0000223813"	"0000464883"
"0000232987"	"0000475695"
"0000232988"	"0000475696"
"0000232989"	"0000475697"
"0000232990"	"0000475698"
"0000232991"	"0000475699"
"0000232992"	"0000475700"
"0000232993"	"0000475701"
"0000232994"	"0000475702"
"0000266943"	"0000597783"
"0000266943"	"0000597816"
"0000291037"	"0000647726"
"0000291038"	"0000647727"
"0000291039"	"0000647728"
"0000297768"	"0000660430"
"0000297768"	"0000660431"
"0000297769"	"0000660432"
"0000297769"	"0000660433"
"0000297789"	"0000660452"
"0000297790"	"0000660453"
"0000297790"	"0000660454"
"0000304753"	"0000668257"
"0000335252"	"0000733261"
"0000335252"	"0000733664"
"0000360899"	"0000761013"
"0000375642"	"0000786993"
"0000386635"	"0000814273"
"0000386636"	"0000814274"
"0000389095"	"0000817888"
"0000389532"	"0000818620"
"0000389532"	"0000818621"
"0000389757"	"0000818992"
"0000389757"	"0000818994"
"0000391300"	"0000821038"
"0000391300"	"0000821049"
"0000391301"	"0000821039"
"0000391301"	"0000821050"
"0000391320"	"0000821068"
"0000391787"	"0000821713"
"0000391787"	"0000821845"
"0000391788"	"0000821714"
"0000391789"	"0000821715"
"0000391789"	"0000821846"
"0000391790"	"0000821716"
"0000391790"	"0000821847"
"0000391791"	"0000821717"
"0000391791"	"0000821848"
"0000391792"	"0000821718"
"0000391792"	"0000821849"
"0000391793"	"0000821719"
"0000391793"	"0000821850"
"0000391794"	"0000821720"
"0000391794"	"0000821851"
"0000391795"	"0000821721"
"0000391795"	"0000821852"
"0000391796"	"0000821722"
"0000391796"	"0000821853"
"0000391796"	"0000821917"
"0000391797"	"0000821723"
"0000391797"	"0000821854"
"0000391798"	"0000821724"
"0000391798"	"0000821855"
"0000391799"	"0000821725"
"0000391799"	"0000821856"
"0000391800"	"0000821726"
"0000393786"	"0000824599"
"0000393788"	"0000824602"
"0000395869"	"0000827315"
"0000395869"	"0000827316"
"0000411520"	"0000868657"
"0000411521"	"0000868658"
"0000411521"	"0000868659"
"0000411522"	"0000868660"
"0000411522"	"0000868661"
"0000411523"	"0000868662"
"0000411523"	"0000868663"
"0000411524"	"0000868664"
"0000411524"	"0000868665"
"0000411525"	"0000868666"
"0000411525"	"0000868667"
"0000411525"	"0000868668"
"0000411526"	"0000868669"
"0000411526"	"0000868670"
"0000411526"	"0000868671"
"0000411527"	"0000868672"
"0000411527"	"0000868673"
"0000411527"	"0000868674"
"0000411528"	"0000868675"
"0000411528"	"0000868676"
"0000411529"	"0000868677"
"0000411530"	"0000868678"
"0000411531"	"0000868679"
"0000411532"	"0000868680"
"0000411532"	"0000868681"
"0000411533"	"0000868682"
"0000411533"	"0000868683"
"0000411534"	"0000868684"
"0000411535"	"0000868685"
"0000411535"	"0000868686"
"0000411536"	"0000868687"
"0000411536"	"0000868688"
"0000411537"	"0000868689"
"0000411537"	"0000868690"
"0000411538"	"0000868691"
"0000411539"	"0000868692"
"0000411541"	"0000868694"
"0000411542"	"0000868703"
"0000411543"	"0000868704"
"0000411544"	"0000868705"
"0000411545"	"0000868706"
"0000411546"	"0000868707"
"0000411547"	"0000868708"
"0000411548"	"0000868709"
"0000411549"	"0000868710"
"0000411550"	"0000868711"
"0000411551"	"0000868712"
"0000411552"	"0000868713"
"0000411553"	"0000868714"
"0000411554"	"0000868715"
"0000411555"	"0000868716"
"0000411556"	"0000868717"
"0000411557"	"0000868718"
"0000411558"	"0000868719"
"0000411559"	"0000868723"
"0000411560"	"0000868724"
"0000411561"	"0000868726"
"0000411561"	"0000868727"
"0000411562"	"0000868728"
"0000411562"	"0000868729"
"0000428227"	"0000905870"
"0000431432"	"0000916582"
"0000431432"	"0000916583"
"0000431815"	"0000917105"
"0000434776"	"0000920647"
"0000439966"	"0000936110"
"0000449299"	"0000959066"