### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GMPPB)
# 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}}"
"GMPPB"	"GDP-mannose pyrophosphorylase B"	"3"	"p21.31"	"unknown"	"NG_033731.2"	"UD_132464838780"	""	"http://www.LOVD.nl/GMPPB"	""	"1"	"22932"	"29925"	"615320"	"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>"	""	"g"	"https://databases.lovd.nl/shared/refseq/GMPPB_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the gene variant databases from the <b><a href=\"http://www.DMD.nl\" target=\"_blank\">\"Leiden Muscular Dystrophy pages\" (LMDp)</a></b></font>"	"-1"	""	"-1"	"00001"	"2013-07-01 00:00:00"	"00006"	"2019-12-30 12:55:19"	"00000"	"2026-01-20 18:57:21"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00025656"	"GMPPB"	"transcript variant 2"	"001"	"NM_021971.2"	""	"NP_068806.1"	""	""	""	"-248"	"1359"	"1083"	"49761407"	"49758909"	"00006"	"2021-11-10 15:43:38"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 19
"{{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"	""	""
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00141"	"LGMD2"	"dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2)"	""	""	""	""	""	"00006"	"2013-06-10 21:06:19"	"00006"	"2021-12-11 13:56:28"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00244"	"MYOP"	"myopathy (MYOP)"	""	""	""	""	""	"00006"	"2013-10-12 23:00:55"	"00006"	"2019-06-19 11:52:31"
"00360"	"MDC"	"dystrophy, muscular, congenital (MDC)"	""	""	""	""	""	"00006"	"2014-03-21 23:02:36"	"00006"	"2018-07-03 16:30:02"
"00385"	"DA"	"arthrogryposis, distal (DA)"	""	""	""	""	""	"00006"	"2014-05-27 12:44:13"	"00006"	"2015-12-08 23:59:30"
"03903"	"MDDGA14"	"dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A14"	"AR"	"615350"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2024-01-12 21:33:41"
"03904"	"MDDGB14"	"dystrophy-dystroglycanopathy, muscular, (congenital with mental retardation), type B14"	"AR"	"615351"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2024-01-12 21:33:14"
"03905"	"MDDGC14;LGMD2T"	"dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C14 (LGMD2T)"	"AR"	"615352"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2024-01-12 21:34:16"
"04235"	"FSHD"	"dystrophy, muscular, facioscapulohumeral (FSHD)"	""	""	""	""	""	"00006"	"2015-04-04 18:14:08"	""	""
"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"	""	""
"05116"	"MDDGB"	"dystrophy, muscular, dystroglycanopathy, type B (MDDGB)"	""	""	""	""	""	"00006"	"2016-01-11 01:55:32"	""	""
"05117"	"MDDG"	"dystrophy, muscular, dystroglycanopathy (MDDG)"	""	""	""	""	""	"00006"	"2016-01-11 01:55:59"	""	""
"05126"	"LGMD"	"dystrophy, muscular, limb-girdle (LGMD)"	""	""	""	""	""	"00006"	"2016-01-26 06:05:36"	""	""
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"05618"	"NMD"	"neuromuscular disorder (NMD)"	""	""	""	""	""	"00006"	"2019-07-02 19:46:12"	""	""
"05851"	"MDDGC"	"dystrophy, muscular, dystroglycanopathy (limb-girdle), type C (MDDGC)"	""	""	""	""	""	"00006"	"2020-10-10 19:22:09"	"00006"	"2020-10-10 19:22:28"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"GMPPB"	"00139"
"GMPPB"	"03903"
"GMPPB"	"03904"
"GMPPB"	"03905"


## Individuals ## Do not remove or alter this header ##
## Count = 54
"{{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}}"
"00054664"	""	""	""	"1"	""	"01399"	"{PMID:O\'Grady 2016:27159402}"	"2-generation family, unaffected heterozygous carrier parents"	"F"	""	"Australia"	">24y"	"0"	""	""	""	"Pat20"
"00056473"	""	""	""	"1"	""	"00006"	""	"2-generation family, 1 affected, unaffected carrier parents"	"M"	""	"Pakistan"	">8y"	"0"	""	""	""	""
"00056474"	""	""	""	"1"	""	"00006"	""	"2-generation family, 1 affected, unaffected carrier parents"	"F"	""	"India"	">12y"	"0"	""	""	""	""
"00056475"	""	""	""	"1"	""	"00006"	"{PMID:Carss 2013:23768512}, {PMID:O\'Grady 2016:27159402}"	"2-generation family, unaffected heterozygous carrier parents"	"M"	""	"Mexico"	">16y"	"0"	""	""	""	"Pat3/Pat31"
"00056476"	""	""	""	"1"	""	"00006"	""	"2-generation family, 1 affected, unaffected carrier mother"	"F"	""	"Mexico"	">13y"	"0"	""	""	""	""
"00056477"	""	""	""	"1"	""	"00006"	""	"2-generation family, 1 affected, unaffected carrier parents"	"F"	""	"Italy"	"14y"	"0"	""	""	""	""
"00056478"	""	""	""	"1"	""	"00006"	""	"2-generation family, 1 affected, unaffected carrier parents"	"F"	""	"Italy"	">10y"	"0"	""	""	""	""
"00056479"	""	""	""	"1"	""	"00006"	""	"2-generation family, 1 affected, unaffected carrier parents"	"M"	""	"United Kingdom (Great Britain)"	">6y"	"0"	""	""	""	""
"00056480"	""	""	""	"1"	""	"00006"	""	"2-generation family, 1 affected, unaffected carrier parents"	"M"	""	"Egypt"	">18y"	"0"	""	""	""	""
"00056481"	""	""	""	"1"	""	"00006"	""	""	"-"	""	""	""	"0"	""	""	""	""
"00056482"	""	""	""	"1"	""	"00464"	""	""	"F"	"yes"	"United States"	""	"0"	""	""	"Hispanic"	""
"00056483"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	"white"	""
"00056484"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	"white"	""
"00056485"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00056486"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00056487"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00056488"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00056489"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00056490"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00056491"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00056492"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00056493"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00056494"	""	""	""	"2"	""	"00006"	"{PMID:Raphael 2014:24780531}, {DOI:Raphael 2014:10.1016/j.brainres.2014.04.028}"	"2-generation family, 2 affecteds, unaffected heterozygous carrier parents/sibs"	"F"	"no"	"United States"	""	"0"	""	""	"Jewish-Ashkenazi;Ukrain;Poland;Ireland"	""
"00056495"	""	""	""	"2"	""	"00006"	"{PMID:Cabrera-Serrano 2015:25681410}, {DOI:Cabrera-Serrano 2015:10.1093/brain/awv013}"	"3-generation family, 2 affected (FM), unaffected heterozygous carrier parents/sibs"	"M"	"no"	"Australia"	""	"0"	""	""	""	""
"00183264"	""	""	""	"1"	""	"00006"	"Lazar ASHG2018 P1192"	""	"F"	"no"	"Brazil"	""	"0"	""	""	""	"ASHG2018-P1192"
"00269877"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00293431"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00307233"	""	""	""	"1"	""	"00534"	"{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}"	""	""	""	"Australia"	""	"0"	""	""	""	"D18-0741"
"00307244"	""	""	""	"1"	""	"00534"	"{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}"	""	""	""	"Australia"	""	"0"	""	""	""	"D19-0998"
"00311109"	""	""	""	"1"	""	"00006"	"{PMID:Johnson 2018:30060766}"	""	"F"	""	""	""	"0"	""	""	"white"	"Pat11"
"00311110"	""	""	""	"1"	""	"00006"	"{PMID:Johnson 2018:30060766}"	""	"M"	""	""	""	"0"	""	""	"white"	"Pat12"
"00311111"	""	""	""	"1"	""	"00006"	"{PMID:Johnson 2018:30060766}"	""	"M"	""	""	""	"0"	""	""	"white"	"Pat13"
"00314325"	""	""	""	"3"	""	"00006"	"{PMID:Topf 2020:32528171}"	"analysis 1001 patients with unexplained limb-girdle weakness"	""	""	""	""	"0"	""	""	""	""
"00314326"	""	""	""	"2"	""	"00006"	"{PMID:Topf 2020:32528171}"	"analysis 1001 patients with unexplained limb-girdle weakness"	""	""	""	""	"0"	""	""	""	""
"00314327"	""	""	""	"1"	""	"00006"	"{PMID:Topf 2020:32528171}"	"analysis 1001 patients with unexplained limb-girdle weakness"	""	""	""	""	"0"	""	""	""	""
"00388517"	""	""	""	"1"	""	"04186"	""	""	"M"	"no"	"(Korea, South (Republic))"	""	"0"	""	""	"Korea"	"Case 26"
"00388518"	""	""	""	"1"	""	"04186"	""	""	"M"	"no"	"(Korea, South (Republic))"	""	"0"	""	""	"Korea"	"Case 27"
"00388519"	""	""	""	"1"	""	"04186"	""	""	"M"	"no"	"(Korea, South (Republic))"	""	"0"	""	""	"Korea"	"Case 28"
"00390618"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat135"
"00390619"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat136"
"00390620"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat137"
"00390621"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat138"
"00390622"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat139"
"00390623"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat140"
"00390624"	""	""	""	"1"	""	"00006"	"{PMID:Song 2021:33200426}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat141"
"00399083"	""	""	""	"1"	""	"00006"	"{PMID:Gonzalez-Quereda 2020:32403337}"	"patient"	"F"	""	"Spain"	""	"0"	""	""	""	"P165"
"00403853"	""	""	""	"1"	""	"00006"	"{PMID:Froukh 2020:32056211}"	"analysis 103 families with neurodevelopmental disorders"	""	""	"Jordan"	""	"0"	""	""	""	"TF009"
"00406626"	""	""	""	"1"	""	"04292"	""	""	"F"	""	""	""	""	""	""	""	"7"
"00406648"	""	""	""	"1"	""	"04292"	""	""	"F"	""	""	""	""	""	""	""	"18"
"00413024"	""	""	""	"1"	""	"00006"	"{PMID:Khadilkar 2022:35723113}"	""	""	""	"India"	""	"0"	""	""	""	"Pat-GMPPB1"
"00413025"	""	""	""	"1"	""	"00006"	"{PMID:Khadilkar 2022:35723113}"	""	""	""	"India"	""	"0"	""	""	""	"Pat-GMPPB2"
"00419601"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"F"	""	"Greece"	""	"0"	""	""	""	"20116"
"00451667"	""	""	""	"1"	""	"01164"	""	""	"F"	"yes"	"? (unknown)"	""	"0"	""	""	""	"296357"
"00468235"	""	""	""	"1"	""	"00006"	"{PMID:Ayala-Ramirez 2025:41066171}"	"patient"	"M"	""	"Colombia"	""	"0"	""	""	""	"Pat170"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 54
"{{individualid}}"	"{{diseaseid}}"
"00054664"	"00360"
"00056473"	"05114"
"00056474"	"00141"
"00056475"	"00360"
"00056476"	"00360"
"00056477"	"00360"
"00056478"	"00360"
"00056479"	"00141"
"00056480"	"00141"
"00056481"	"00000"
"00056482"	"00360"
"00056483"	"00360"
"00056484"	"00360"
"00056485"	"00360"
"00056486"	"00360"
"00056487"	"00360"
"00056488"	"05116"
"00056489"	"05116"
"00056490"	"05116"
"00056491"	"05116"
"00056492"	"05116"
"00056493"	"05116"
"00056494"	"05114"
"00056495"	"05116"
"00183264"	"04235"
"00269877"	"00198"
"00293431"	"00198"
"00307233"	"00385"
"00307244"	"00385"
"00311109"	"05117"
"00311110"	"05117"
"00311111"	"05117"
"00314325"	"05126"
"00314326"	"05126"
"00314327"	"05126"
"00388517"	"05851"
"00388518"	"05851"
"00388519"	"05115"
"00390618"	"05117"
"00390619"	"05117"
"00390620"	"05117"
"00390621"	"05117"
"00390622"	"05117"
"00390623"	"05117"
"00390624"	"05117"
"00399083"	"05618"
"00403853"	"05611"
"00406626"	"03905"
"00406648"	"03905"
"00413024"	"00244"
"00413025"	"00244"
"00419601"	"00198"
"00451667"	"03904"
"00468235"	"00244"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00141, 00198, 00244, 00360, 00385, 03903, 03904, 03905, 04235, 05114, 05115, 05116, 05117, 05126, 05611, 05618, 05851
## Count = 45
"{{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}}"
"0000041343"	"00360"	"00054664"	"01399"	"Familial, autosomal recessive"	"24y"	"gross motor delay, walked age 3y, mild facial weakness, choreoathetosis, rhabdomyolysis, moderate developmental delay; CPK elevated (943-6728); histology dystrophic"	"6m"	""	""	""	""	""	""	""	""	""	""
"0000043161"	"05114"	"00056473"	"00006"	"Isolated (sporadic)"	""	"MEB;WWS; prenatal oligohydramnios; severe intellectual delay; sensorineural hearing loss; ataxia; retinal dysfunction (on electroretinogram); no cardiorespiratory findings; brain MRI pontine and cerebellar hypoplasia; CPK 2,974 max U/l; max motor ability w(support)3y"	"0d"	""	"increased tone; microcephaly; cleft palate; feeding difficulties"	""	""	""	""	""	""	""	""
"0000043162"	"00141"	"00056474"	"00006"	"Isolated (sporadic)"	""	"no prenatal findings; mild intellectual delay; epilepsy; no ophthalmologic findings; no cardiorespiratory findings; brain MRI no structural abnormality; max motor ability run"	"0d"	""	"hypotonia; microcephaly"	""	""	""	""	""	""	""	""
"0000043163"	"00360"	"00056475"	"00006"	"Isolated (sporadic)"	""	"no prenatal findings; mild intellectual delay; cataracts; strabismus; ptosis; long QT syndrome; brain MRI no structural abnormality; CPK 7,323 max U/l; max motor ability w3.5y"	"14d"	""	"increased tone, then hypotonia; microcephaly; cataracts; torticollis; ileal atresia"	""	""	""	""	""	""	""	""
"0000043164"	"00360"	"00056476"	"00006"	"Isolated (sporadic)"	""	"decreased fetal movement; mild intellectual delay; cataracts; strabismus; intermittent nystagmus; ptosis; left ventricular dilatation; brain MRI no structural abnormality; max motor ability w3y"	"0d"	""	"hypotonia, feeding difficulties"	""	""	""	""	""	""	""	""
"0000043165"	"00360"	"00056477"	"00006"	"Isolated (sporadic)"	""	"dystrophy, muscular congenital (CMD), cerebellar involvement; decreased fetal movement; severe intellectual delay; drug-resistant epilepsy; motor delay; strabismus; no cardiorespiratory findings; brain MRI cerebellar hypoplasia; CPK 630 max U/l; max motor ability unable to sit"	"4m"	""	"poor head control"	""	""	""	""	""	""	""	""
"0000043166"	"00360"	"00056478"	"00006"	"Isolated (sporadic)"	""	"dystrophy, muscular congenital (CMD), cerebellar involvement; decreased fetal movement; severe intellectual delay; drug-resistant epilepsy; motor delay; no ophthalmologic findings; no cardiorespiratory findings; brain MRI cerebellar hypoplasia; CPK 720 max U/l; max motor ability s2y"	"4m"	""	"poor head control"	""	""	""	""	""	""	""	""
"0000043167"	"00141"	"00056479"	"00006"	"Isolated (sporadic)"	""	"no prenatal findings; normal cognitive function; no ophthalmologic findings; no cardiorespiratory findings;  CPK 3,000 max U/l; max motor ability run"	"4y"	""	"mild exercise intolerance"	""	""	""	""	""	""	""	""
"0000043168"	"00141"	"00056480"	"00006"	"Isolated (sporadic)"	""	"no prenatal findings; mild intellectual delay; epilepsy; cataracts; nystagmus; wandering atrial pacemaker; cardiomyopathy; respiratory insufficiency; brain MRI no structural abnormality; CPK 5,200 max U/l; max motor ability run"	"2y6m"	""	"difficulty climbing staris, microcephaly"	""	""	""	""	""	""	""	""
"0000043169"	"00000"	"00056481"	"00006"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000043170"	"00360"	"00056482"	"00464"	"Familial, autosomal recessive"	""	"congenital cataracts, motor delays"	""	""	""	""	""	""	""	""	""	""	""
"0000043171"	"00360"	"00056483"	"00464"	"Familial, autosomal recessive"	""	"cognitive impairment, seizures, weakness; CPK elevated"	""	""	""	""	""	""	""	""	""	""	""
"0000043172"	"00360"	"00056484"	"00464"	"Familial, autosomal recessive"	""	"seizures, mild MR"	""	""	""	""	""	""	""	""	""	""	""
"0000043173"	"00360"	"00056485"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000043174"	"00360"	"00056486"	"00464"	"Familial, autosomal recessive"	""	"dystroglycanopathy with MR and seizures; normal eyes."	""	""	""	""	""	""	""	""	""	""	""
"0000043175"	"00360"	"00056487"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000043176"	"05116"	"00056488"	"00464"	"Unknown"	""	"dystroglycanopathy"	""	""	""	""	""	""	""	""	""	""	""
"0000043177"	"05116"	"00056489"	"00464"	"Unknown"	""	"dystroglycanopathy"	""	""	""	""	""	""	""	""	""	""	""
"0000043178"	"05116"	"00056490"	"00464"	"Unknown"	""	"dystroglycanopathy"	""	""	""	""	""	""	""	""	""	""	""
"0000043179"	"05116"	"00056491"	"00464"	"Unknown"	""	"dystroglycanopathy"	""	""	""	""	""	""	""	""	""	""	""
"0000043180"	"05116"	"00056492"	"00464"	"Unknown"	""	"dystroglycanopathy"	""	""	""	""	""	""	""	""	""	""	""
"0000043181"	"05116"	"00056493"	"00464"	"Unknown"	""	"dystroglycanopathy"	""	""	""	""	""	""	""	""	""	""	""
"0000043182"	"05114"	"00056494"	"00006"	"Familial, autosomal recessive"	""	"see paper; alpha-dystroglycanopathy, congenital muscular dystrophy, generalized seizures, developmental delay, elevated serum creatine kinase, microcephaly, plagiocephaly (1), feeding difficulties, proximal weakness, epilepsy ( (absence, myoclonic, drop attacks) (1), strabismus,  …; CPK 4233-4505 U/L"	""	""	""	""	""	""	""	""	""	""	""
"0000043183"	"05116"	"00056495"	"00006"	"Isolated (sporadic)"	""	"see paper; II2 frequent cramps, enlarged calves, behavioural problems, ...; II3 hyperCK, cramps from age 6, enlarged calves., right bundle branch block, ..."	""	""	"proximal limb weakness; proximal limb weakness"	""	""	""	""	""	""	""	""
"0000143993"	"04235"	"00183264"	"00006"	"Unknown"	"43y"	"..., muscle weakness, proximal tetraparesis, EMG myopathic"	""	""	""	""	""	""	""	""	""	"FSHD-1 in relatives"	""
"0000207673"	"00198"	"00269877"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Hyperactivity (HP:0000752); Stereotypy (HP:0000733); Nyctalopia (HP:0000662); Hip dysplasia (HP:0001385)"	""	""	""	""	""	""	""	""	""	""	""
"0000233038"	"00385"	"00307233"	"00534"	"Familial, autosomal recessive"	""	"antenatal onset; hydrops fetalis; abnormal facial shape; small anterior fontanelle; sagittal craniosynostosis; hypertelorism; wide mouth; retrognathia; cleft palate; webbed neck; low-set ears; multiple pterygia; bilateral talipes equinovarus (severe); abnormality musculature limbs; abnormality of brain morphology"	""	""	""	""	""	""	""	""	""	"distal arthrogryposis"	""
"0000233049"	"00385"	"00307244"	"00534"	"Familial, autosomal recessive"	""	"arthrogryposis multiplex congenita; knee flexion contracture; hip contracture; flexion contracture of finger; wrist flexion contracture; stiff shoulders; overlapping fingers; talipes; limited elbow extension; amyoplasia (not typical); decreased fetal movement (antenatal); diaphragmatic paralysis; elevated serum creatine kinase; hirsutism"	""	""	""	""	""	""	""	""	""	"distal arthrogryposis"	""
"0000236365"	"05117"	"00311109"	"00006"	"Familial, autosomal recessive"	"45y"	"onset juvenile, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.66; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb and scapular muscle atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 1520 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle;"	""	""	""	"α-DG deficiency"	""	""	""	""	""	"dystroglycanopathy"	""
"0000236366"	"05117"	"00311110"	"00006"	"Familial, autosomal recessive"	"54y"	"onset childhood, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.59; muscle weakness p roximal upper limb and lower limb; proximal upper limb and scapular muscle atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2390 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; EMG myopathic"	""	""	""	"α-DG deficiency"	""	""	""	""	""	"dystroglycanopathy"	""
"0000236367"	"05117"	"00311111"	"00006"	"Familial, autosomal recessive"	"13y"	"onset childhood, slowly progressive; wheelchair bound; previous ventricular septal defects; slight insufficiency of mitral and tricuspid valves; myopia; no brain abnormalities; no intellectual disability; muscle weakness proximal and distal upper limb and lower limb; athletic and muscular build, distal lower limb hypertrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2336 U/L; muscle biopsy myopathic; involvement of dorsalis muscles, gluteus medius and minimus, and iliopsoas muscle with relative sparing of semitendinosus muscle. moderate involvement of adductor magnus muscles. slight involvement of gastrocnemius muscles with its hypertrophy without significant edema; EMG myopathic, positive repetitive nerve stimulation of quadriceps muscle"	""	""	""	"no indications"	""	""	""	""	""	"dystroglycanopathy"	""
"0000284155"	"05117"	"00390618"	"00006"	"Familial, autosomal dominant"	"8y4m"	"congenital muscular dystrophy/limb-girdle muscular dystrophy; 1y6m-walk; contractures ankle; no intellectual disability; no seizures; cataract; CK level 2000-6000 IU/L; MRI brain normal"	"1d"	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy"	""
"0000284156"	"05117"	"00390619"	"00006"	"Familial, autosomal dominant"	"28y"	""	""	""	""	""	""	""	""	""	""	"limb-girdle muscular dystrophy, mental retardation"	""
"0000284157"	"05117"	"00390620"	"00006"	"Familial, autosomal dominant"	"32y"	""	""	""	""	""	""	""	""	""	""	"muscle-eye-brain disease"	""
"0000284158"	"05117"	"00390621"	"00006"	"Familial, autosomal dominant"	"2y10m"	""	""	""	""	""	""	""	""	""	""	"muscle-eye-brain disease"	""
"0000284159"	"05117"	"00390622"	"00006"	"Familial, autosomal dominant"	"29y"	""	""	""	""	""	""	""	""	""	""	"muscle-eye-brain disease"	""
"0000284160"	"05117"	"00390623"	"00006"	"Familial, autosomal dominant"	"19y"	""	""	""	""	""	""	""	""	""	""	"congenital muscular dystrophy, no mental retardation"	""
"0000284161"	"05117"	"00390624"	"00006"	"Familial, autosomal dominant"	"61y"	""	""	""	""	""	""	""	""	""	""	"congenital muscular dystrophy, mental retardation"	""
"0000292171"	"05618"	"00399083"	"00006"	"Unknown"	""	"serum CK 800-1000 U/L; muscle biopsy dystrophic pattern; muscle weakness"	"<1m"	""	""	""	""	""	""	""	""	"congenital muscular dystrophy/congenital myasthenic syndrome"	""
"0000296533"	"05611"	"00403853"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000305007"	"00244"	"00413024"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"myopathy"	""
"0000305008"	"00244"	"00413025"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"myopathy"	""
"0000310882"	"00198"	"00419601"	"02300"	"Familial, autosomal recessive"	"27y"	""	""	""	""	""	""	""	""	""	""	"neuromuscular abnormality"	""
"0000340328"	"03904"	"00451667"	"01164"	"Familial, autosomal recessive"	"07y"	"Myopathy, Motor delay, Gait disturbance, Lower limb muscle weakness, Elevated circulating creatine kinase concentration,  CK elevation ~2300 U/l, known consanguinity of the parents (1st cousin), three siblings of the mother died at 6-12 months of age"	""	""	""	""	""	""	""	""	""	""	""
"0000353387"	"00244"	"00468235"	"00006"	"Unknown"	"1y"	""	""	""	""	""	""	""	""	""	""	"myopathy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 54
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000054613"	"00054664"	"1"	"01399"	"01399"	"2015-11-08 12:06:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000056434"	"00056473"	"1"	"00006"	"00006"	"2013-07-23 22:58:32"	"00006"	"2013-07-23 22:59:19"	"SEQ; SEQ-NG-I"	"DNA"	""	""
"0000056435"	"00056474"	"1"	"00006"	"00006"	"2013-07-23 22:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000056436"	"00056475"	"1"	"00006"	"00006"	"2013-07-23 22:58:32"	""	""	"SEQ; SEQ-NG-I"	"DNA"	""	""
"0000056437"	"00056476"	"1"	"00006"	"00006"	"2013-07-23 22:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000056438"	"00056477"	"1"	"00006"	"00006"	"2013-07-23 22:58:32"	""	""	"SEQ; SEQ-NG-I"	"DNA"	""	""
"0000056439"	"00056478"	"1"	"00006"	"00006"	"2013-07-23 22:58:32"	""	""	"SEQ; SEQ-NG-I"	"DNA"	""	""
"0000056440"	"00056479"	"1"	"00006"	"00006"	"2013-07-23 22:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000056441"	"00056480"	"1"	"00006"	"00006"	"2013-07-23 22:58:32"	""	""	"SEQ; SEQ-NG-I"	"DNA"	""	""
"0000056442"	"00056481"	"1"	"00006"	"00006"	"2013-07-23 22:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000056443"	"00056482"	"1"	"00464"	"00464"	"2014-06-11 17:27:43"	"00006"	"2014-06-22 12:36:40"	"PCR;SEQ"	"DNA"	""	""
"0000056444"	"00056483"	"1"	"00464"	"00464"	"2014-06-11 17:34:14"	"00006"	"2014-06-22 12:27:26"	"PCR;SEQ"	"DNA"	""	""
"0000056445"	"00056484"	"1"	"00464"	"00464"	"2014-06-11 17:40:29"	"00006"	"2014-06-22 12:28:50"	"PCR;SEQ"	"DNA"	""	""
"0000056446"	"00056485"	"1"	"00464"	"00464"	"2014-06-11 17:46:17"	"00006"	"2014-06-22 12:37:42"	"PCR;SEQ"	"DNA"	""	""
"0000056447"	"00056486"	"1"	"00464"	"00464"	"2014-09-24 17:18:54"	"00006"	"2014-09-26 23:35:59"	"PCR;SEQ"	"DNA"	""	""
"0000056448"	"00056487"	"1"	"00464"	"00464"	"2014-09-24 19:50:27"	"00006"	"2014-09-26 23:34:47"	"SEQ-NG"	"DNA"	""	""
"0000056449"	"00056488"	"1"	"00464"	"00464"	"2015-07-21 16:35:31"	"00006"	"2015-07-27 13:12:57"	"PCR;SEQ"	"DNA"	""	""
"0000056450"	"00056489"	"1"	"00464"	"00464"	"2015-07-21 16:40:00"	"00006"	"2015-07-27 13:17:17"	"PCR;SEQ"	"DNA"	""	""
"0000056451"	"00056490"	"1"	"00464"	"00464"	"2015-07-21 16:43:35"	"00006"	"2015-07-27 13:18:14"	"PCR;SEQ"	"DNA"	""	""
"0000056452"	"00056491"	"1"	"00464"	"00464"	"2015-07-21 16:47:04"	"00006"	"2015-07-27 13:19:48"	"PCR;SEQ"	"DNA"	""	""
"0000056453"	"00056492"	"1"	"00464"	"00464"	"2015-07-21 16:50:48"	"00006"	"2015-07-27 13:18:58"	"PCR;SEQ"	"DNA"	""	""
"0000056454"	"00056493"	"1"	"00464"	"00464"	"2015-07-21 16:55:34"	"00006"	"2015-07-27 13:16:46"	"PCR;SEQ"	"DNA"	""	""
"0000056455"	"00056494"	"1"	"00006"	"00006"	"2015-08-28 19:33:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000056456"	"00056495"	"1"	"00006"	"00006"	"2015-08-28 19:51:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000184221"	"00183264"	"1"	"00006"	"00006"	"2018-10-21 21:12:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000271030"	"00269877"	"1"	"01807"	"01807"	"2019-12-10 12:31:19"	""	""	"SEQ"	"DNA"	""	""
"0000294599"	"00293431"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000308375"	"00307233"	"1"	"00534"	"00006"	"2020-08-05 17:01:04"	""	""	"SEQ"	"DNA"	""	""
"0000308386"	"00307244"	"1"	"00534"	"00006"	"2020-08-05 17:01:04"	""	""	"SEQ"	"DNA"	""	""
"0000312261"	"00311109"	"1"	"00006"	"00006"	"2020-09-18 13:35:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312262"	"00311110"	"1"	"00006"	"00006"	"2020-09-18 13:35:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312263"	"00311111"	"1"	"00006"	"00006"	"2020-09-18 13:35:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000315498"	"00314325"	"1"	"00006"	"00006"	"2020-10-12 14:24:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000315499"	"00314326"	"1"	"00006"	"00006"	"2020-10-12 14:24:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000315500"	"00314327"	"1"	"00006"	"00006"	"2020-10-12 14:24:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000389759"	"00388517"	"1"	"04186"	"04186"	"2021-11-04 11:44:53"	""	""	"SEQ-NG"	"DNA"	""	""
"0000389760"	"00388518"	"1"	"04186"	"04186"	"2021-11-04 11:51:53"	""	""	"SEQ-NG"	"DNA"	""	""
"0000389761"	"00388519"	"1"	"04186"	"04186"	"2021-11-04 12:14:35"	""	""	"SEQ-NG"	"DNA"	""	""
"0000391859"	"00390618"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391860"	"00390619"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391861"	"00390620"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391862"	"00390621"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391863"	"00390622"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391864"	"00390623"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000391865"	"00390624"	"1"	"00006"	"00006"	"2021-11-10 16:44:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000400328"	"00399083"	"1"	"00006"	"00006"	"2022-01-15 16:40:49"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"166-gene panel"
"0000405091"	"00403853"	"1"	"00006"	"00006"	"2022-02-24 16:43:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000407872"	"00406626"	"1"	"04292"	"04292"	"2022-04-02 21:02:19"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000407895"	"00406648"	"1"	"04292"	"04292"	"2022-04-03 14:32:17"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000414295"	"00413024"	"1"	"00006"	"00006"	"2022-07-07 15:14:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000414296"	"00413025"	"1"	"00006"	"00006"	"2022-07-07 15:14:15"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000420905"	"00419601"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000453271"	"00451667"	"1"	"01164"	"01164"	"2024-06-25 16:53:40"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000469901"	"00468235"	"1"	"00006"	"00006"	"2025-11-07 14:41:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 39
"{{screeningid}}"	"{{geneid}}"
"0000054613"	"GMPPB"
"0000056434"	"GMPPB"
"0000056435"	"GMPPB"
"0000056436"	"GMPPB"
"0000056437"	"GMPPB"
"0000056438"	"GMPPB"
"0000056439"	"GMPPB"
"0000056440"	"GMPPB"
"0000056441"	"GMPPB"
"0000056442"	"GMPPB"
"0000056443"	"GMPPB"
"0000056444"	"GMPPB"
"0000056445"	"GMPPB"
"0000056446"	"GMPPB"
"0000056447"	"GMPPB"
"0000056448"	"GMPPB"
"0000056449"	"GMPPB"
"0000056450"	"GMPPB"
"0000056451"	"GMPPB"
"0000056452"	"GMPPB"
"0000056453"	"GMPPB"
"0000056454"	"GMPPB"
"0000056455"	"GMPPB"
"0000056456"	"GMPPB"
"0000184221"	"DAG1"
"0000184221"	"GMPPB"
"0000184221"	"POMT2"
"0000308375"	"GMPPB"
"0000308386"	"GMPPB"
"0000312261"	"GMPPB"
"0000312262"	"GMPPB"
"0000312263"	"GMPPB"
"0000315498"	"GMPPB"
"0000315499"	"GMPPB"
"0000315500"	"GMPPB"
"0000389759"	"GMPPB"
"0000389760"	"GMPPB"
"0000389761"	"GMPPB"
"0000453271"	"GMPPB"


## 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 = 161
"{{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}}"
"0000084563"	"1"	"90"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"01399"	"GMPPB_000004"	"g.49761081C>G"	""	"{PMID:O\'Grady 2016:27159402}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49723648C>G"	""	"pathogenic (recessive)"	""
"0000084610"	"2"	"90"	"3"	"49759313"	"49759313"	"subst"	"0"	"01399"	"GMPPB_000021"	"g.49759313G>T"	""	"{PMID:O\'Grady 2016:27159402}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49721880G>T"	""	"pathogenic (recessive)"	""
"0000086681"	"1"	"90"	"3"	"49760726"	"49760726"	"subst"	"0"	"00006"	"GMPPB_000009"	"g.49760726G>A"	""	"{PMID:Carss 2013:23768512}"	""	""	"exome sequencing; carries 2 MAN1B1 variants"	"Germline"	"yes"	""	"0"	""	""	"g.49723293G>A"	""	"pathogenic"	""
"0000086682"	"1"	"90"	"3"	"49761096"	"49761096"	"subst"	"0"	"00006"	"GMPPB_000001"	"g.49761096G>A"	""	"{PMID:Carss 2013:23768512}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49723663G>A"	""	"pathogenic"	""
"0000086683"	"3"	"90"	"3"	"49760037"	"49760037"	"subst"	"3.66554E-5"	"00006"	"GMPPB_000002"	"g.49760037G>A"	""	"{PMID:Carss 2013:23768512}"	""	""	"exome sequencing"	"Unknown"	"yes"	""	"0"	""	""	"g.49722604G>A"	""	"pathogenic (recessive)"	""
"0000086684"	"10"	"90"	"3"	"49760037"	"49760037"	"subst"	"3.66554E-5"	"00006"	"GMPPB_000002"	"g.49760037G>A"	""	"{PMID:Carss 2013:23768512}"	""	""	""	"Unknown"	"yes"	""	"0"	""	""	"g.49722604G>A"	""	"pathogenic"	""
"0000086685"	"1"	"90"	"3"	"49761065"	"49761065"	"subst"	"8.64123E-5"	"00006"	"GMPPB_000003"	"g.49761065G>A"	""	"{PMID:Carss 2013:23768512}"	""	""	"exome sequencing"	"Germline"	"yes"	""	"0"	""	""	"g.49723632G>A"	""	"pathogenic"	""
"0000086686"	"1"	"90"	"3"	"49761065"	"49761065"	"subst"	"8.64123E-5"	"00006"	"GMPPB_000003"	"g.49761065G>A"	""	"{PMID:Carss 2013:23768512}"	""	""	"exome sequencing"	"Germline"	"yes"	""	"0"	""	""	"g.49723632G>A"	""	"pathogenic"	""
"0000086687"	"1"	"90"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"00006"	"GMPPB_000004"	"g.49761081C>G"	""	"{PMID:Carss 2013:23768512}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49723648C>G"	""	"pathogenic"	""
"0000086688"	"11"	"90"	"3"	"49760037"	"49760037"	"subst"	"3.66554E-5"	"00006"	"GMPPB_000002"	"g.49760037G>A"	""	"{PMID:Carss 2013:23768512}"	""	""	"exome sequencing"	"Germline"	"yes"	""	"0"	""	""	"g.49722604G>A"	""	"pathogenic"	""
"0000086689"	"0"	"50"	"3"	"49761065"	"49761065"	"subst"	"0"	"00006"	"GMPPB_000008"	"g.49761065G>T"	"0.000077"	""	""	""	""	"Unknown"	"-"	""	"0"	""	""	"g.49723632G>T"	""	"VUS"	""
"0000086690"	"10"	"90"	"3"	"49760037"	"49760037"	"subst"	"3.66554E-5"	"00464"	"GMPPB_000002"	"g.49760037G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722604G>A"	""	"pathogenic"	""
"0000086691"	"1"	"70"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"00464"	"GMPPB_000004"	"g.49761081C>G"	""	""	""	""	""	"Germline"	""	"rs142336618"	"0"	""	""	"g.49723648C>G"	""	"likely pathogenic"	""
"0000086692"	"1"	"70"	"3"	"49760412"	"49760412"	"subst"	"8.15514E-6"	"00464"	"GMPPB_000011"	"g.49760412G>C"	""	""	""	""	""	"Germline"	""	"rs145535498"	"0"	""	""	"g.49722979G>C"	""	"likely pathogenic"	""
"0000086693"	"1"	"70"	"3"	"49759776"	"49759776"	"subst"	"6.0987E-5"	"00464"	"GMPPB_000012"	"g.49759776A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722343A>G"	""	"likely pathogenic"	""
"0000086694"	"21"	"70"	"3"	"49759490"	"49759490"	"subst"	"9.8048E-5"	"00464"	"GMPPB_000013"	"g.49759490G>A"	""	""	""	""	""	"Germline"	""	"rs142908436"	"0"	""	""	"g.49722057G>A"	""	"likely pathogenic"	""
"0000086695"	"1"	"70"	"3"	"49759776"	"49759776"	"subst"	"6.0987E-5"	"00464"	"GMPPB_000012"	"g.49759776A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722343A>G"	""	"likely pathogenic"	""
"0000086696"	"0"	"90"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"00464"	"GMPPB_000004"	"g.49761081C>G"	""	""	""	""	""	"Germline"	""	"rs142336618"	"0"	""	""	"g.49723648C>G"	""	"pathogenic"	""
"0000086697"	"0"	"90"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"00464"	"GMPPB_000004"	"g.49761081C>G"	""	""	""	""	""	"Germline"	""	"rs142336618"	"0"	""	""	"g.49723648C>G"	""	"pathogenic"	""
"0000086698"	"0"	"90"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"00464"	"GMPPB_000004"	"g.49761081C>G"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.49723648C>G"	""	"pathogenic"	""
"0000086699"	"0"	"90"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"00464"	"GMPPB_000004"	"g.49761081C>G"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.49723648C>G"	""	"pathogenic"	""
"0000086700"	"0"	"70"	"3"	"49759711"	"49759711"	"subst"	"0"	"00464"	"GMPPB_000016"	"g.49759711G>A"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.49722278G>A"	""	"likely pathogenic"	""
"0000086701"	"0"	"70"	"3"	"49761066"	"49761066"	"subst"	"0"	"00464"	"GMPPB_000018"	"g.49761066G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49723633G>A"	""	"likely pathogenic"	""
"0000086702"	"11"	"90"	"3"	"49759776"	"49759776"	"subst"	"6.0987E-5"	"00006"	"GMPPB_000012"	"g.49759776A>G"	""	"{PMID:Raphael 2014:24780531}, {DOI:Raphael 2014:10.1016/j.brainres.2014.04.028}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49722343A>G"	""	"pathogenic"	""
"0000086703"	"1"	"90"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"00006"	"GMPPB_000004"	"g.49761081C>G"	""	"{PMID:Cabrera-Serrano 2015:25681410}, {DOI:Cabrera-Serrano 2015:10.1093/brain/awv013}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49723648C>G"	""	"pathogenic"	""
"0000086708"	"2"	"90"	"3"	"49759268"	"49759268"	"subst"	"8.13425E-5"	"00006"	"GMPPB_000005"	"g.49759268C>T"	""	"{PMID:Carss 2013:23768512}"	""	"NM_021971.1:1000G>A  (Asp334Asn)"	"exome sequencing; carries 2 MAN1B1 variants"	"Germline"	"yes"	""	"0"	""	""	"g.49721835C>T"	""	"pathogenic"	""
"0000086709"	"2"	"90"	"3"	"49759268"	"49759268"	"subst"	"8.13425E-5"	"00006"	"GMPPB_000005"	"g.49759268C>T"	""	"{PMID:Carss 2013:23768512}"	""	"NM_021971.1:1000G>A  (Asp334Asn)"	""	"Germline"	"yes"	""	"0"	""	""	"g.49721835C>T"	""	"pathogenic"	""
"0000086711"	"21"	"90"	"3"	"49760037"	"49760037"	"subst"	"3.66554E-5"	"00006"	"GMPPB_000002"	"g.49760037G>A"	""	"{PMID:Carss 2013:23768512}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49722604G>A"	""	"pathogenic"	""
"0000086712"	"2"	"90"	"3"	"49759489"	"49759489"	"subst"	"0.000281902"	"00006"	"GMPPB_000006"	"g.49759489C>T"	""	"{PMID:Carss 2013:23768512}"	""	""	"exome sequencing"	"Germline"	"yes"	""	"0"	""	""	"g.49722056C>T"	""	"pathogenic"	""
"0000086713"	"2"	"90"	"3"	"49759489"	"49759489"	"subst"	"0.000281902"	"00006"	"GMPPB_000006"	"g.49759489C>T"	""	"{PMID:Carss 2013:23768512}"	""	""	"exome sequencing"	"Germline"	"yes"	""	"0"	""	""	"g.49722056C>T"	""	"pathogenic"	""
"0000086714"	"2"	"90"	"3"	"49759280"	"49759280"	"subst"	"5.69129E-5"	"00006"	"GMPPB_000007"	"g.49759280C>T"	""	"{PMID:Carss 2013:23768512}"	""	"NM_021971.1:c.988G>A (Val330Ile)"	""	"Germline"	"yes"	""	"0"	""	""	"g.49721847C>T"	""	"pathogenic"	""
"0000086715"	"21"	"90"	"3"	"49760037"	"49760037"	"subst"	"3.66554E-5"	"00006"	"GMPPB_000002"	"g.49760037G>A"	""	"{PMID:Carss 2013:23768512}"	""	""	"exome sequencing"	"Germline"	"yes"	""	"0"	""	""	"g.49722604G>A"	""	"pathogenic"	""
"0000086716"	"20"	"90"	"3"	"49760037"	"49760037"	"subst"	"3.66554E-5"	"00464"	"GMPPB_000002"	"g.49760037G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722604G>A"	""	"pathogenic"	""
"0000086717"	"2"	"90"	"3"	"49759559"	"49759559"	"subst"	"4.10614E-6"	"00464"	"GMPPB_000010"	"g.49759559G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722126G>A"	""	"pathogenic"	""
"0000086718"	"2"	"70"	"3"	"49759489"	"49759489"	"subst"	"0.000281902"	"00464"	"GMPPB_000006"	"g.49759489C>T"	""	""	""	""	""	"Germline"	""	"rs202160208"	"0"	""	""	"g.49722056C>T"	""	"likely pathogenic"	""
"0000086719"	"2"	"90"	"3"	"49759489"	"49759489"	"subst"	"0.000281902"	"00464"	"GMPPB_000006"	"g.49759489C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722056C>T"	""	"pathogenic"	""
"0000086720"	"10"	"90"	"3"	"49759489"	"49759489"	"subst"	"0.000281902"	"00464"	"GMPPB_000006"	"g.49759489C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722056C>T"	""	"pathogenic"	""
"0000086721"	"2"	"90"	"3"	"49759489"	"49759489"	"subst"	"0.000281902"	"00464"	"GMPPB_000006"	"g.49759489C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722056C>T"	""	"pathogenic"	""
"0000086722"	"0"	"90"	"3"	"49759280"	"49759280"	"subst"	"5.69129E-5"	"00464"	"GMPPB_000007"	"g.49759280C>T"	""	""	""	""	""	"Germline"	""	"rs199922550"	"0"	""	""	"g.49721847C>T"	""	"pathogenic"	""
"0000086723"	"0"	"70"	"3"	"49759672"	"49759672"	"subst"	"0"	"00464"	"GMPPB_000014"	"g.49759672C>T"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.49722239C>T"	""	"likely pathogenic"	""
"0000086724"	"0"	"90"	"3"	"49759280"	"49759280"	"subst"	"5.69129E-5"	"00464"	"GMPPB_000007"	"g.49759280C>T"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.49721847C>T"	""	"pathogenic"	""
"0000086725"	"0"	"90"	"3"	"49760404"	"49760404"	"subst"	"0"	"00464"	"GMPPB_000015"	"g.49760404C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722971C>T"	""	"pathogenic"	""
"0000086726"	"0"	"70"	"3"	"49759315"	"49759315"	"subst"	"1.21904E-5"	"00464"	"GMPPB_000017"	"g.49759315A>G"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.49721882A>G"	""	"likely pathogenic"	""
"0000086727"	"21"	"90"	"3"	"49759489"	"49759489"	"subst"	"0.000281902"	"00006"	"GMPPB_000006"	"g.49759489C>T"	""	"{PMID:Raphael 2014:24780531}, {DOI:Raphael 2014:10.1016/j.brainres.2014.04.028}"	""	""	""	"Germline"	"yes"	"rs202160208"	"0"	""	""	"g.49722056C>T"	""	"pathogenic"	""
"0000086728"	"2"	"90"	"3"	"49761065"	"49761065"	"subst"	"8.64123E-5"	"00006"	"GMPPB_000003"	"g.49761065G>A"	""	"{PMID:Cabrera-Serrano 2015:25681410}, {DOI:Cabrera-Serrano 2015:10.1093/brain/awv013}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.49723632G>A"	""	"pathogenic"	""
"0000256491"	"0"	"50"	"3"	"49736941"	"49736941"	"del"	"0"	"01943"	"RNF123_000001"	"g.49736941del"	""	""	""	"RNF123(NM_022064.4):c.805delA (p.S269Vfs*18)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49699508del"	""	"VUS"	""
"0000277331"	"0"	"30"	"3"	"49760477"	"49760477"	"subst"	"0.0131562"	"02330"	"GMPPB_000027"	"g.49760477G>A"	""	""	""	"GMPPB(NM_013334.4):c.330C>T (p.D110=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49723044G>A"	""	"likely benign"	""
"0000277332"	"0"	"30"	"3"	"49760431"	"49760431"	"subst"	"0.0145201"	"02330"	"GMPPB_000026"	"g.49760431G>C"	""	""	""	"GMPPB(NM_013334.3):c.376C>G (p.(His126Asp)), GMPPB(NM_013334.4):c.376C>G (p.H126D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49722998G>C"	""	"likely benign"	""
"0000277333"	"0"	"10"	"3"	"49760039"	"49760039"	"subst"	"0.997237"	"02330"	"GMPPB_000025"	"g.49760039T>C"	""	""	""	"GMPPB(NM_013334.4):c.551A>G (p.Q184R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49722606T>C"	""	"benign"	""
"0000277334"	"0"	"30"	"3"	"49760011"	"49760011"	"subst"	"0"	"02330"	"GMPPB_000024"	"g.49760011C>A"	""	""	""	"GMPPB(NM_013334.4):c.561+18G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49722578C>A"	""	"likely benign"	""
"0000307156"	"0"	"50"	"3"	"49750966"	"49750966"	"subst"	"8.33688E-6"	"01943"	"RNF123_000002"	"g.49750966C>T"	""	""	""	"RNF123(NM_022064.4):c.2695C>T (p.R899C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49713533C>T"	""	"VUS"	""
"0000329417"	"0"	"30"	"3"	"49725234"	"49725234"	"subst"	"0.000252511"	"01804"	"MST1_000003"	"g.49725234A>C"	""	""	""	"MST1(NM_020998.3):c.191T>G (p.(Val64Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49687801A>C"	""	"likely benign"	""
"0000329420"	"0"	"30"	"3"	"49759486"	"49759486"	"subst"	"2.04268E-5"	"01804"	"GMPPB_000022"	"g.49759486C>T"	""	""	""	"GMPPB(NM_013334.3):c.863G>A (p.(Arg288Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49722053C>T"	""	"likely benign"	""
"0000344360"	"0"	"10"	"3"	"49723750"	"49723750"	"subst"	"0.0502465"	"02327"	"MST1_000004"	"g.49723750A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.49686317A>G"	""	"benign"	""
"0000408230"	"0"	"90"	"3"	"49759490"	"49759490"	"subst"	"9.8048E-5"	"00006"	"GMPPB_000013"	"g.49759490G>A"	""	"Lazar ASHG2018 P1192"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722057G>A"	""	"pathogenic"	""
"0000520223"	"0"	"30"	"3"	"49723736"	"49723738"	"dup"	"0"	"02326"	"AMIGO3_000005"	"g.49723736_49723738dup"	""	""	""	"MST1(NM_020998.3):c.1016+17_1016+19dupGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49686303_49686305dup"	""	"likely benign"	""
"0000520232"	"0"	"50"	"3"	"49759369"	"49759370"	"ins"	"0"	"01943"	"AMIGO3_000014"	"g.49759369_49759370insGCC"	""	""	""	"GMPPB(NM_013334.3):c.979_980insGGC (p.(Glu327delinsGlyGln)), GMPPB(NM_013334.3):c.979_980insGGC (p.E327delinsGQ)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721936_49721937insGCC"	""	"VUS"	""
"0000520235"	"0"	"30"	"3"	"49759374"	"49759374"	"subst"	"0"	"01943"	"AMIGO3_000017"	"g.49759374A>C"	""	""	""	"GMPPB(NM_013334.3):c.975T>G (p.G325=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721941A>C"	""	"likely benign"	""
"0000520236"	"0"	"30"	"3"	"49759378"	"49759378"	"subst"	"0"	"01943"	"AMIGO3_000018"	"g.49759378A>C"	""	""	""	"GMPPB(NM_013334.3):c.971T>G (p.L324R), GMPPB(NM_013334.3):c.971delinsG (p.(Leu324Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721945A>C"	""	"likely benign"	""
"0000520237"	"0"	"30"	"3"	"49759378"	"49759378"	"subst"	"0"	"01804"	"AMIGO3_000018"	"g.49759378A>C"	""	""	""	"GMPPB(NM_013334.3):c.971T>G (p.L324R), GMPPB(NM_013334.3):c.971delinsG (p.(Leu324Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721945A>C"	""	"likely benign"	""
"0000520238"	"0"	"30"	"3"	"49759378"	"49759379"	"del"	"0"	"01804"	"AMIGO3_000019"	"g.49759378_49759379del"	""	""	""	"GMPPB(NM_013334.3):c.970_971del (p.(Leu324GlyfsTer13)), GMPPB(NM_013334.3):c.970_971delCT (p.L324Gfs*13)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721945_49721946del"	""	"likely benign"	""
"0000520239"	"0"	"30"	"3"	"49759379"	"49759379"	"subst"	"0"	"01943"	"AMIGO3_000020"	"g.49759379G>C"	""	""	""	"GMPPB(NM_013334.3):c.970C>G (p.L324V), GMPPB(NM_013334.3):c.970delinsG (p.(Leu324Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721946G>C"	""	"likely benign"	""
"0000520240"	"0"	"30"	"3"	"49759379"	"49759379"	"subst"	"0"	"01804"	"AMIGO3_000020"	"g.49759379G>C"	""	""	""	"GMPPB(NM_013334.3):c.970C>G (p.L324V), GMPPB(NM_013334.3):c.970delinsG (p.(Leu324Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721946G>C"	""	"likely benign"	""
"0000520241"	"0"	"30"	"3"	"49759383"	"49759384"	"del"	"0"	"01804"	"AMIGO3_000021"	"g.49759383_49759384del"	""	""	""	"GMPPB(NM_013334.3):c.965_966del (p.(Ala322GlyfsTer15))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721950_49721951del"	""	"likely benign"	""
"0000520242"	"0"	"30"	"3"	"49759384"	"49759384"	"subst"	"0"	"01804"	"AMIGO3_000022"	"g.49759384G>C"	""	""	""	"GMPPB(NM_013334.3):c.965delinsG (p.(Ala322Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721951G>C"	""	"likely benign"	""
"0000520244"	"0"	"30"	"3"	"49759388"	"49759388"	"subst"	"0"	"01804"	"AMIGO3_000024"	"g.49759388A>C"	""	""	""	"GMPPB(NM_013334.3):c.961T>G (p.(Trp321Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721955A>C"	""	"likely benign"	""
"0000520246"	"0"	"30"	"3"	"49759468"	"49759468"	"subst"	"1.22355E-5"	"01943"	"AMIGO3_000026"	"g.49759468T>C"	""	""	""	"GMPPB(NM_013334.3):c.881A>G (p.D294G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49722035T>C"	""	"likely benign"	""
"0000520247"	"0"	"50"	"3"	"49759919"	"49759919"	"subst"	"0"	"01804"	"AMIGO3_000027"	"g.49759919C>G"	""	""	""	"GMPPB(NM_013334.3):c.586G>C (p.(Glu196Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49722486C>G"	""	"VUS"	""
"0000520249"	"0"	"50"	"3"	"49760084"	"49760084"	"subst"	"9.38331E-5"	"02325"	"AMIGO3_000029"	"g.49760084T>C"	""	""	""	"GMPPB(NM_013334.4):c.506A>G (p.N169S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49722651T>C"	""	"VUS"	""
"0000520250"	"0"	"30"	"3"	"49760431"	"49760431"	"subst"	"0.0145201"	"01804"	"GMPPB_000026"	"g.49760431G>C"	""	""	""	"GMPPB(NM_013334.3):c.376C>G (p.(His126Asp)), GMPPB(NM_013334.4):c.376C>G (p.H126D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49722998G>C"	""	"likely benign"	""
"0000520252"	"0"	"30"	"3"	"49760483"	"49760483"	"subst"	"8.12744E-6"	"01943"	"AMIGO3_000031"	"g.49760483G>A"	""	""	""	"GMPPB(NM_013334.3):c.324C>T (p.N108=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49723050G>A"	""	"likely benign"	""
"0000520253"	"0"	"30"	"3"	"49761024"	"49761024"	"subst"	"5.99084E-5"	"01804"	"AMIGO3_000032"	"g.49761024G>T"	""	""	""	"GMPPB(NM_013334.3):c.129+7C>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49723591G>T"	""	"likely benign"	""
"0000520255"	"0"	"50"	"3"	"49761107"	"49761107"	"subst"	"0"	"01943"	"AMIGO3_000033"	"g.49761107G>C"	""	""	""	"GMPPB(NM_013334.3):c.53C>G (p.T18R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49723674G>C"	""	"VUS"	""
"0000608779"	"0"	"30"	"3"	"49759301"	"49759301"	"subst"	"0"	"02327"	"AMIGO3_000034"	"g.49759301C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721868C>G"	""	"likely benign"	""
"0000608780"	"0"	"30"	"3"	"49759369"	"49759370"	"ins"	"0"	"01804"	"AMIGO3_000035"	"g.49759369_49759370insGC"	""	""	""	"GMPPB(NM_013334.3):c.979_980insGC (p.(Glu327GlyfsTer25))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721936_49721937insGC"	""	"likely benign"	""
"0000608781"	"0"	"30"	"3"	"49759369"	"49759370"	"ins"	"0"	"01804"	"AMIGO3_000014"	"g.49759369_49759370insGCC"	""	""	""	"GMPPB(NM_013334.3):c.979_980insGGC (p.(Glu327delinsGlyGln)), GMPPB(NM_013334.3):c.979_980insGGC (p.E327delinsGQ)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721936_49721937insGCC"	""	"likely benign"	""
"0000608782"	"0"	"30"	"3"	"49759369"	"49759370"	"ins"	"0"	"01804"	"AMIGO3_000036"	"g.49759369_49759370insGCCC"	""	""	""	"GMPPB(NM_013334.3):c.979_980insGGGC (p.(Glu327GlyfsTer12))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49721936_49721937insGCCC"	""	"likely benign"	""
"0000608783"	"0"	"30"	"3"	"49760756"	"49760756"	"del"	"0"	"02327"	"AMIGO3_000037"	"g.49760756del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49723323del"	""	"likely benign"	""
"0000608784"	"0"	"50"	"3"	"49760848"	"49760848"	"subst"	"0"	"02327"	"AMIGO3_000038"	"g.49760848C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49723415C>T"	""	"VUS"	""
"0000624876"	"0"	"50"	"3"	"49759718"	"49759718"	"subst"	"4.06355E-6"	"01807"	"GMPPB_000028"	"g.49759718C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.49722285C>A"	""	"VUS"	""
"0000624877"	"0"	"50"	"3"	"49760515"	"49760518"	"del"	"0"	"01807"	"GMPPB_000029"	"g.49760515_49760518del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.49723082_49723085del"	""	"VUS"	""
"0000651288"	"1"	"70"	"3"	"49759268"	"49759268"	"subst"	"8.13425E-5"	"03575"	"GMPPB_000005"	"g.49759268C>T"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs397509422}"	"Germline"	""	"rs397509422"	"0"	""	""	"g.49721835C>T"	""	"likely pathogenic"	""
"0000654992"	"0"	"50"	"3"	"49760508"	"49760508"	"subst"	"4.06388E-6"	"02327"	"AMIGO3_000041"	"g.49760508G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.49723075G>A"	""	"VUS"	""
"0000675333"	"1"	"90"	"3"	"49761065"	"49761065"	"subst"	"8.64123E-5"	"00534"	"GMPPB_000003"	"g.49761065G>A"	""	"{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}"	""	"NM_198722:c.95C>T"	""	"Germline"	""	""	"0"	""	""	"g.49723632G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000675344"	"1"	"90"	"3"	"49760726"	"49760726"	"subst"	"0"	"00534"	"GMPPB_000009"	"g.49760726G>A"	""	"{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}"	""	"NM_198722:c.220C>T"	""	"Germline"	""	""	"0"	""	""	"g.49723293G>A"	""	"pathogenic (recessive)"	"ACMG"
"0000675365"	"2"	"90"	"3"	"49759280"	"49759280"	"subst"	"5.69129E-5"	"00534"	"GMPPB_000007"	"g.49759280C>T"	""	"{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}"	""	"NM_198722:c.1069G>A"	""	"Germline"	""	""	"0"	""	""	"g.49721847C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000675368"	"2"	"90"	"3"	"49759268"	"49759268"	"subst"	"8.13425E-5"	"00534"	"GMPPB_000005"	"g.49759268C>T"	""	"{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}"	""	"NM_198722:c.1081G>A"	""	"Germline"	""	""	"0"	""	""	"g.49721835C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000689112"	"0"	"50"	"3"	"49759241"	"49759241"	"subst"	"1.22563E-5"	"01943"	"AMIGO3_000042"	"g.49759241C>G"	""	""	""	"GMPPB(NM_013334.3):c.1108G>C (p.V370L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000693817"	"1"	"70"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"00006"	"GMPPB_000004"	"g.49761081C>G"	""	"{PMID:Johnson 2018:30060766}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49723648C>G"	""	"likely pathogenic (recessive)"	""
"0000693818"	"1"	"70"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"00006"	"GMPPB_000004"	"g.49761081C>G"	""	"{PMID:Johnson 2018:30060766}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49723648C>G"	""	"likely pathogenic (recessive)"	""
"0000693819"	"1"	"70"	"3"	"49760847"	"49760847"	"del"	"0"	"00006"	"GMPPB_000030"	"g.49760847del"	""	"{PMID:Johnson 2018:30060766}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49723414del"	""	"likely pathogenic (recessive)"	""
"0000693836"	"2"	"70"	"3"	"49759490"	"49759490"	"subst"	"9.8048E-5"	"00006"	"GMPPB_000013"	"g.49759490G>A"	""	"{PMID:Johnson 2018:30060766}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722057G>A"	""	"likely pathogenic (recessive)"	""
"0000693837"	"2"	"70"	"3"	"49759490"	"49759490"	"subst"	"9.8048E-5"	"00006"	"GMPPB_000013"	"g.49759490G>A"	""	"{PMID:Johnson 2018:30060766}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722057G>A"	""	"likely pathogenic (recessive)"	""
"0000693838"	"2"	"70"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"00006"	"GMPPB_000004"	"g.49761081C>G"	""	"{PMID:Johnson 2018:30060766}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49723648C>G"	""	"likely pathogenic (recessive)"	""
"0000697587"	"0"	"70"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"00006"	"GMPPB_000004"	"g.49761081C>G"	"3/1001 cases"	"{PMID:Topf 2020:32528171}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.49723648C>G"	""	"likely pathogenic"	""
"0000697588"	"0"	"70"	"3"	"49759490"	"49759490"	"subst"	"9.8048E-5"	"00006"	"GMPPB_000013"	"g.49759490G>A"	"2/1001 cases"	"{PMID:Topf 2020:32528171}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.49722057G>A"	""	"likely pathogenic"	""
"0000697589"	"0"	"70"	"3"	"49760847"	"49760847"	"del"	"0"	"00006"	"GMPPB_000030"	"g.49760847del"	"1/1001 cases"	"{PMID:Topf 2020:32528171}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.49723414del"	""	"likely pathogenic"	""
"0000719513"	"0"	"50"	"3"	"49742496"	"49742496"	"subst"	"4.59747E-5"	"01943"	"AMIGO3_000043"	"g.49742496G>A"	""	""	""	"RNF123(NM_022064.4):c.2039G>A (p.R680Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719514"	"0"	"50"	"3"	"49749954"	"49749954"	"subst"	"8.12466E-6"	"02329"	"AMIGO3_000039"	"g.49749954C>T"	""	""	""	"RNF123(NM_022064.5):c.2539C>T (p.R847W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719515"	"0"	"50"	"3"	"49751345"	"49751345"	"subst"	"1.21939E-5"	"01943"	"AMIGO3_000044"	"g.49751345G>A"	""	""	""	"RNF123(NM_022064.4):c.2840G>A (p.R947H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719516"	"0"	"70"	"3"	"49759296"	"49759296"	"dup"	"0"	"02329"	"AMIGO3_000012"	"g.49759296dup"	""	""	""	"GMPPB(NM_013334.4):c.1053dupA (p.V352Sfs*4)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000719517"	"0"	"30"	"3"	"49759383"	"49759383"	"subst"	"0"	"01943"	"AMIGO3_000045"	"g.49759383A>C"	""	""	""	"GMPPB(NM_013334.3):c.966T>G (p.A322=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719518"	"0"	"50"	"3"	"49759384"	"49759388"	"dup"	"0"	"02329"	"AMIGO3_000023"	"g.49759384_49759388dup"	""	""	""	"GMPPB(NM_013334.4):c.970_974dupCTGGG (p.G326Wfs*27)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719519"	"0"	"50"	"3"	"49760074"	"49760074"	"subst"	"0"	"02329"	"AMIGO3_000028"	"g.49760074G>C"	""	""	""	"GMPPB(NM_013334.4):c.516C>G (p.N172K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719520"	"0"	"50"	"3"	"49760475"	"49760475"	"subst"	"0"	"02329"	"AMIGO3_000030"	"g.49760475A>G"	""	""	""	"GMPPB(NM_013334.4):c.332T>C (p.V111A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719521"	"0"	"50"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"01943"	"GMPPB_000004"	"g.49761081C>G"	""	""	""	"GMPPB(NM_013334.3):c.79G>C (p.D27H, p.(Asp27His)), GMPPB(NM_013334.4):c.79G>C (p.D27H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719522"	"0"	"90"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"02329"	"GMPPB_000004"	"g.49761081C>G"	""	""	""	"GMPPB(NM_013334.3):c.79G>C (p.D27H, p.(Asp27His)), GMPPB(NM_013334.4):c.79G>C (p.D27H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000801306"	"0"	"30"	"3"	"49728870"	"49728870"	"subst"	"0.00456491"	"01943"	"AMIGO3_000046"	"g.49728870A>G"	""	""	""	"RNF123(NM_022064.4):c.95A>G (p.E32G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801307"	"0"	"30"	"3"	"49734860"	"49734860"	"subst"	"0.00106531"	"01943"	"AMIGO3_000047"	"g.49734860G>C"	""	""	""	"RNF123(NM_022064.4):c.312G>C (p.G104=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000818997"	"3"	"70"	"3"	"49760416"	"49760416"	"subst"	"0"	"04186"	"GMPPB_000033"	"g.49760416C>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000818998"	"0"	"70"	"3"	"49760416"	"49760416"	"subst"	"0"	"04186"	"GMPPB_000033"	"g.49760416C>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000818999"	"0"	"70"	"3"	"49759562"	"49759562"	"subst"	"8.21524E-6"	"04186"	"GMPPB_000032"	"g.49759562C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000819000"	"11"	"70"	"3"	"49760464"	"49760464"	"subst"	"0"	"04186"	"GMPPB_000031"	"g.49760464A>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000819001"	"21"	"70"	"3"	"49759562"	"49759562"	"subst"	"8.21524E-6"	"04186"	"GMPPB_000032"	"g.49759562C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000821785"	"1"	"90"	"3"	"49759562"	"49759562"	"subst"	"8.21524E-6"	"00006"	"GMPPB_000032"	"g.49759562C>T"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.787G>A"	""	"Germline"	""	""	"0"	""	""	"g.49722129C>T"	""	"pathogenic (recessive)"	""
"0000821786"	"1"	"90"	"3"	"49759489"	"49759489"	"subst"	"0"	"00006"	"GMPPB_000040"	"g.49759489C>A"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.860G>T"	""	"Germline"	""	""	"0"	""	""	"g.49722056C>A"	""	"pathogenic (recessive)"	""
"0000821787"	"1"	"90"	"3"	"49759252"	"49759252"	"subst"	"1.62934E-5"	"00006"	"GMPPB_000034"	"g.49759252T>C"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.1097A>G (Asn366Ser)"	""	"Germline"	""	""	"0"	""	""	"g.49721819T>C"	""	"pathogenic (recessive)"	""
"0000821788"	"1"	"90"	"3"	"49760476"	"49760476"	"subst"	"4.06418E-6"	"00006"	"GMPPB_000043"	"g.49760476C>T"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.331G>A"	""	"Germline"	""	""	"0"	""	""	"g.49723043C>T"	""	"pathogenic (recessive)"	""
"0000821789"	"1"	"90"	"3"	"49759198"	"49759198"	"subst"	"3.79907E-5"	"00006"	"GMPPB_000035"	"g.49759198C>T"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.1070G>A"	""	"Germline"	""	""	"0"	""	""	"g.49721765C>T"	""	"pathogenic (recessive)"	""
"0000821790"	"1"	"90"	"3"	"49759198"	"49759198"	"subst"	"3.79907E-5"	"00006"	"GMPPB_000035"	"g.49759198C>T"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.1070G>A"	""	"Germline"	""	""	"0"	""	""	"g.49721765C>T"	""	"pathogenic (recessive)"	""
"0000821791"	"1"	"90"	"3"	"49759198"	"49759198"	"subst"	"3.79907E-5"	"00006"	"GMPPB_000035"	"g.49759198C>T"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.1070G>A"	""	"Germline"	""	""	"0"	""	""	"g.49721765C>T"	""	"pathogenic (recessive)"	""
"0000821909"	"2"	"90"	"3"	"49760416"	"49760416"	"subst"	"0"	"00006"	"GMPPB_000033"	"g.49760416C>A"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.391G>T"	""	"Germline"	""	""	"0"	""	""	"g.49722983C>A"	""	"pathogenic (recessive)"	""
"0000821910"	"2"	"90"	"3"	"49759498"	"49759498"	"subst"	"0"	"00006"	"GMPPB_000041"	"g.49759498A>G"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.851T>C (Val284Leu)"	""	"Germline"	""	""	"0"	""	""	"g.49722065A>G"	""	"pathogenic (recessive)"	""
"0000821911"	"2"	"90"	"3"	"49759916"	"49759916"	"subst"	"0"	"00006"	"GMPPB_000042"	"g.49759916C>A"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.589G>T"	""	"Germline"	""	""	"0"	""	""	"g.49722483C>A"	""	"pathogenic (recessive)"	""
"0000821912"	"2"	"90"	"3"	"49759259"	"49759259"	"subst"	"0"	"00006"	"GMPPB_000037"	"g.49759259A>T"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.1090T>A"	""	"Germline"	""	""	"0"	""	""	"g.49721826A>T"	""	"pathogenic (recessive)"	""
"0000821913"	"2"	"90"	"3"	"49759250"	"49759250"	"subst"	"0"	"00006"	"GMPPB_000036"	"g.49759250C>T"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.1018G>A"	""	"Germline"	""	""	"0"	""	""	"g.49721817C>T"	""	"pathogenic (recessive)"	""
"0000821914"	"2"	"90"	"3"	"49759472"	"49759472"	"subst"	"4.0811E-6"	"00006"	"GMPPB_000039"	"g.49759472G>A"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.877C>T"	""	"Germline"	""	""	"0"	""	""	"g.49722039G>A"	""	"pathogenic (recessive)"	""
"0000821915"	"2"	"90"	"3"	"49759302"	"49759302"	"subst"	"4.06322E-6"	"00006"	"GMPPB_000038"	"g.49759302G>T"	""	"{PMID:Song 2021:33200426}"	""	"NM_021971.2:c.966C>A"	""	"Germline"	""	""	"0"	""	""	"g.49721869G>T"	""	"pathogenic (recessive)"	""
"0000821918"	"0"	"90"	"3"	"49759268"	"49759268"	"subst"	"8.13425E-5"	"00006"	"GMPPB_000005"	"g.49759268C>T"	""	"{PMID:Carss 2013:23768512}"	""	""	"in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.49721835C>T"	""	"NA"	""
"0000821919"	"0"	"90"	"3"	"49759280"	"49759280"	"subst"	"5.69129E-5"	"00006"	"GMPPB_000007"	"g.49759280C>T"	""	"{PMID:Carss 2013:23768512}"	""	""	"in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.49721847C>T"	""	"NA"	""
"0000821920"	"0"	"90"	"3"	"49759489"	"49759489"	"subst"	"0.000281902"	"00006"	"GMPPB_000006"	"g.49759489C>T"	""	"{PMID:Carss 2013:23768512}"	""	""	"in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.49722056C>T"	""	"NA"	""
"0000821921"	"0"	"90"	"3"	"49761096"	"49761096"	"subst"	"0"	"00006"	"GMPPB_000001"	"g.49761096G>A"	""	"{PMID:Carss 2013:23768512}"	""	""	"in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation near membrane protrusions"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.49723663G>A"	""	"NA"	""
"0000821922"	"0"	"30"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"00006"	"GMPPB_000004"	"g.49761081C>G"	""	"{PMID:Carss 2013:23768512}"	""	""	"in vitro expression cloning C2C12 GMPPB normal distribution"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.49723648C>G"	""	"NA"	""
"0000821923"	"0"	"90"	"3"	"49761065"	"49761065"	"subst"	"8.64123E-5"	"00006"	"GMPPB_000003"	"g.49761065G>A"	""	"{PMID:Carss 2013:23768512}"	""	""	"in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.49723632G>A"	""	"NA"	""
"0000821924"	"0"	"30"	"3"	"49760037"	"49760037"	"subst"	"3.66554E-5"	"00006"	"GMPPB_000002"	"g.49760037G>A"	""	"{PMID:Carss 2013:23768512}"	""	""	"in vitro expression cloning C2C12 GMPPB normal distribution"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.49722604G>A"	""	"NA"	""
"0000833135"	"3"	"70"	"3"	"49760037"	"49760037"	"subst"	"3.66554E-5"	"00006"	"GMPPB_000002"	"g.49760037G>A"	""	"{PMID:Gonzalez-Quereda 2020:32403337}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722604G>A"	""	"likely pathogenic"	""
"0000841152"	"1"	"90"	"3"	"49760515"	"49760518"	"del"	"0"	"00006"	"GMPPB_000029"	"g.49760515_49760518del"	""	"{PMID:Froukh 2020:32056211}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49723082_49723085del"	""	"pathogenic (recessive)"	""
"0000841187"	"2"	"90"	"3"	"49759718"	"49759718"	"subst"	"4.06355E-6"	"00006"	"GMPPB_000028"	"g.49759718C>A"	""	"{PMID:Froukh 2020:32056211}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.49722285C>A"	""	"pathogenic (recessive)"	""
"0000844687"	"0"	"70"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"04292"	"GMPPB_000004"	"g.49761081C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000844688"	"0"	"70"	"3"	"49759501"	"49759501"	"subst"	"0"	"04292"	"GMPPB_000044"	"g.49759501C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000844721"	"0"	"90"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"04292"	"GMPPB_000004"	"g.49761081C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000844722"	"0"	"70"	"3"	"49759489"	"49759489"	"subst"	"0.000281902"	"04292"	"GMPPB_000006"	"g.49759489C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000859089"	"0"	"70"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"02327"	"GMPPB_000004"	"g.49761081C>G"	""	""	""	"GMPPB(NM_013334.3):c.79G>C (p.D27H, p.(Asp27His)), GMPPB(NM_013334.4):c.79G>C (p.D27H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000871915"	"3"	"90"	"3"	"49759268"	"49759268"	"subst"	"8.13425E-5"	"00006"	"GMPPB_000005"	"g.49759268C>T"	""	"{PMID:Khadilkar 2022:35723113}"	""	"NM_013334.3:c.1081G>A"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.49721835C>T"	""	"pathogenic (recessive)"	""
"0000871916"	"3"	"90"	"3"	"49759268"	"49759268"	"subst"	"8.13425E-5"	"00006"	"GMPPB_000005"	"g.49759268C>T"	""	"{PMID:Khadilkar 2022:35723113}"	""	"NM_013334.3:c.1081G>A"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.49721835C>T"	""	"pathogenic (recessive)"	""
"0000881264"	"21"	"70"	"3"	"49759522"	"49759522"	"subst"	"0"	"02300"	"GMPPB_000045"	"g.49759522G>A"	""	"{PMID:Marinakis 2021:34008892}"	""	"NM_013334.3:c.827C>T (Pro276Leu)"	"ACMG PM2, PM3, PP2, PP3"	"Germline"	""	""	"0"	""	""	"g.49722089G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000881356"	"11"	"90"	"3"	"49759489"	"49759489"	"subst"	"0.000281902"	"02300"	"GMPPB_000006"	"g.49759489C>T"	""	"{PMID:Marinakis 2021:34008892}"	""	"NM_013334.3:c.860G>A (Arg287Gln)"	"ACMG PM2, PM5, PP2, PP3, PP5"	"Germline"	""	""	"0"	""	""	"g.49722056C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000885910"	"0"	"70"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"01804"	"GMPPB_000004"	"g.49761081C>G"	""	""	""	"GMPPB(NM_013334.3):c.79G>C (p.D27H, p.(Asp27His)), GMPPB(NM_013334.4):c.79G>C (p.D27H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000911972"	"0"	"10"	"3"	"49760039"	"49760039"	"subst"	"0.997237"	"02325"	"GMPPB_000025"	"g.49760039T>C"	""	""	""	"GMPPB(NM_013334.4):c.551A>G (p.Q184R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000962829"	"0"	"50"	"3"	"49759378"	"49759379"	"del"	"0"	"02326"	"AMIGO3_000019"	"g.49759378_49759379del"	""	""	""	"GMPPB(NM_013334.3):c.970_971del (p.(Leu324GlyfsTer13)), GMPPB(NM_013334.3):c.970_971delCT (p.L324Gfs*13)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975906"	"0"	"90"	"3"	"49759490"	"49759490"	"subst"	"9.8048E-5"	"01804"	"GMPPB_000013"	"g.49759490G>A"	""	""	""	"GMPPB(NM_021971.2):c.859C>T (p.(Arg287Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000987843"	"3"	"50"	"3"	"49759916"	"49759916"	"subst"	"0"	"01164"	"GMPPB_000042"	"g.49759916C>A"	""	""	""	""	"ACMG: PS4_SUP, PM2_SUP"	"Germline"	"?"	""	""	""	""	"g.49722483C>A"	"VCV000843614.5"	"VUS (!)"	"ACMG"
"0001034055"	"0"	"50"	"3"	"49721983"	"49721983"	"subst"	"4.06904E-6"	"01804"	"AMIGO3_000052"	"g.49721983C>T"	""	""	""	"MST1(NM_020998.3):c.1876G>A (p.(Gly626Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034056"	"0"	"50"	"3"	"49723859"	"49723859"	"subst"	"4.89772E-5"	"01804"	"AMIGO3_000053"	"g.49723859C>T"	""	""	""	"MST1(NM_020998.3):c.903G>A (p.(Lys301=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034057"	"0"	"30"	"3"	"49723916"	"49723916"	"subst"	"0"	"01804"	"AMIGO3_000054"	"g.49723916T>G"	""	""	""	"MST1(NM_020998.3):c.848-2A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034058"	"0"	"30"	"3"	"49736907"	"49736907"	"subst"	"0.00106706"	"01804"	"AMIGO3_000055"	"g.49736907A>G"	""	""	""	"RNF123(NM_022064.5):c.771A>G (p.(Pro257=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034059"	"0"	"30"	"3"	"49759462"	"49759462"	"subst"	"5.30145E-5"	"01804"	"AMIGO3_000056"	"g.49759462C>T"	""	""	""	"GMPPB(NM_021971.4):c.887G>A (p.(Arg296Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001051337"	"0"	"50"	"3"	"49760036"	"49760036"	"subst"	"4.07564E-5"	"01804"	"AMIGO3_000057"	"g.49760036C>T"	""	""	""	"GMPPB(NM_021971.4):c.554G>A (p.(Arg185His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001057961"	"0"	"70"	"3"	"49759313"	"49759313"	"subst"	"8.12579E-6"	"00006"	"GMPPB_000046"	"g.49759313G>A"	""	"{PMID:Ayala-Ramirez 2025:41066171}"	""	""	""	"Germline"	""	"rs780867515"	"0"	""	""	"g.49721880G>A"	"{CV:569923}"	"likely pathogenic"	""
"0001063973"	"0"	"50"	"3"	"49759334"	"49759338"	"dup"	"0"	"02325"	"AMIGO3_000058"	"g.49759334_49759338dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001063974"	"0"	"70"	"3"	"49761081"	"49761081"	"subst"	"0.000697664"	"02325"	"GMPPB_000004"	"g.49761081C>G"	""	""	""	"GMPPB(NM_013334.3):c.79G>C (p.D27H, p.(Asp27His)), GMPPB(NM_013334.4):c.79G>C (p.D27H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes GMPPB
## Count = 161
"{{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}}"
"0000084563"	"00025656"	"90"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000084610"	"00025656"	"90"	"955"	"0"	"955"	"0"	"c.955C>A"	"r.(?)"	"p.(Arg319Ser)"	""
"0000086681"	"00025656"	"90"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Arg74*)"	""
"0000086682"	"00025656"	"90"	"64"	"0"	"64"	"0"	"c.64C>T"	"r.(?)"	"p.(Pro22Ser)"	""
"0000086683"	"00025656"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Cys)"	""
"0000086684"	"00025656"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Cys)"	""
"0000086685"	"00025656"	"90"	"95"	"0"	"95"	"0"	"c.95C>T"	"r.(?)"	"p.(Pro32Leu)"	""
"0000086686"	"00025656"	"90"	"95"	"0"	"95"	"0"	"c.95C>T"	"r.(?)"	"p.(Pro32Leu)"	""
"0000086687"	"00025656"	"90"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000086688"	"00025656"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Cys)"	""
"0000086689"	"00025656"	"50"	"95"	"0"	"95"	"0"	"c.95C>A"	"r.(?)"	"p.(Pro32His)"	""
"0000086690"	"00025656"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Cys)"	""
"0000086691"	"00025656"	"70"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000086692"	"00025656"	"70"	"395"	"0"	"395"	"0"	"c.395C>G"	"r.(?)"	"p.(Ser132Cys)"	""
"0000086693"	"00025656"	"70"	"656"	"0"	"656"	"0"	"c.656T>C"	"r.(?)"	"p.(Ile219Thr)"	""
"0000086694"	"00025656"	"70"	"859"	"0"	"859"	"0"	"c.859C>T"	"r.(?)"	"p.(Arg287Trp)"	""
"0000086695"	"00025656"	"70"	"656"	"0"	"656"	"0"	"c.656T>C"	"r.(?)"	"p.(Ile219Thr)"	""
"0000086696"	"00025656"	"90"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000086697"	"00025656"	"90"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000086698"	"00025656"	"90"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000086699"	"00025656"	"90"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000086700"	"00025656"	"70"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Pro241Ser)"	""
"0000086701"	"00025656"	"70"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Pro32Ser)"	""
"0000086702"	"00025656"	"90"	"656"	"0"	"656"	"0"	"c.656T>C"	"r.(?)"	"p.(Ile219Thr)"	""
"0000086703"	"00025656"	"90"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000086708"	"00025656"	"90"	"1000"	"0"	"1000"	"0"	"c.1000G>A"	"r.(?)"	"p.(Asp334Asn)"	""
"0000086709"	"00025656"	"90"	"1000"	"0"	"1000"	"0"	"c.1000G>A"	"r.(?)"	"p.(Asp334Asn)"	""
"0000086711"	"00025656"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Cys)"	""
"0000086712"	"00025656"	"90"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Arg287Gln)"	""
"0000086713"	"00025656"	"90"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Arg287Gln)"	""
"0000086714"	"00025656"	"90"	"988"	"0"	"988"	"0"	"c.988G>A"	"r.(?)"	"p.(Val330Ile)"	""
"0000086715"	"00025656"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Cys)"	""
"0000086716"	"00025656"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Cys)"	""
"0000086717"	"00025656"	"90"	"790"	"0"	"790"	"0"	"c.790C>T"	"r.(?)"	"p.(Gln264*)"	""
"0000086718"	"00025656"	"70"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Arg287Gln)"	""
"0000086719"	"00025656"	"90"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Arg287Gln)"	""
"0000086720"	"00025656"	"90"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Arg287Gln)"	""
"0000086721"	"00025656"	"90"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Arg287Gln)"	""
"0000086722"	"00025656"	"90"	"988"	"0"	"988"	"0"	"c.988G>A"	"r.(?)"	"p.(Val330Ile)"	""
"0000086723"	"00025656"	"70"	"760"	"0"	"760"	"0"	"c.760G>A"	"r.(?)"	"p.(Val254Met)"	""
"0000086724"	"00025656"	"90"	"988"	"0"	"988"	"0"	"c.988G>A"	"r.(?)"	"p.(Val330Ile)"	""
"0000086725"	"00025656"	"90"	"402"	"1"	"402"	"1"	"c.402+1G>A"	"r.spl"	"p.?"	""
"0000086726"	"00025656"	"70"	"953"	"0"	"953"	"0"	"c.953T>C"	"r.(?)"	"p.(Val318Ala)"	""
"0000086727"	"00025656"	"90"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Arg287Gln)"	""
"0000086728"	"00025656"	"90"	"95"	"0"	"95"	"0"	"c.95C>T"	"r.(?)"	"p.(Pro32Leu)"	""
"0000256491"	"00025656"	"50"	"23327"	"0"	"23327"	"0"	"c.*22244del"	"r.(?)"	"p.(=)"	""
"0000277331"	"00025656"	"30"	"330"	"0"	"330"	"0"	"c.330C>T"	"r.(?)"	"p.(Asp110=)"	""
"0000277332"	"00025656"	"30"	"376"	"0"	"376"	"0"	"c.376C>G"	"r.(?)"	"p.(His126Asp)"	""
"0000277333"	"00025656"	"10"	"551"	"0"	"551"	"0"	"c.551="	"r.(=)"	"p.(Arg184=)"	""
"0000277334"	"00025656"	"30"	"561"	"18"	"561"	"18"	"c.561+18G>T"	"r.(=)"	"p.(=)"	""
"0000307156"	"00025656"	"50"	"9302"	"0"	"9302"	"0"	"c.*8219G>A"	"r.(=)"	"p.(=)"	""
"0000329417"	"00025656"	"30"	"35034"	"0"	"35034"	"0"	"c.*33951T>G"	"r.(=)"	"p.(=)"	""
"0000329420"	"00025656"	"30"	"863"	"0"	"863"	"0"	"c.863G>A"	"r.(?)"	"p.(Arg288Gln)"	""
"0000344360"	"00025656"	"10"	"36518"	"0"	"36518"	"0"	"c.*35435T>C"	"r.(=)"	"p.(=)"	""
"0000408230"	"00025656"	"90"	"859"	"0"	"859"	"0"	"c.859C>T"	"r.(?)"	"p.(Arg287Trp)"	""
"0000520223"	"00025656"	"30"	"36539"	"0"	"36541"	"0"	"c.*35456_*35458dup"	"r.(=)"	"p.(=)"	""
"0000520232"	"00025656"	"50"	"951"	"28"	"951"	"29"	"c.951+28_951+29insGGC"	"r.(=)"	"p.(=)"	""
"0000520235"	"00025656"	"30"	"951"	"24"	"951"	"24"	"c.951+24T>G"	"r.(=)"	"p.(=)"	""
"0000520236"	"00025656"	"30"	"951"	"20"	"951"	"20"	"c.951+20T>G"	"r.(=)"	"p.(=)"	""
"0000520237"	"00025656"	"30"	"951"	"20"	"951"	"20"	"c.951+20T>G"	"r.(=)"	"p.(=)"	""
"0000520238"	"00025656"	"30"	"951"	"19"	"951"	"20"	"c.951+19_951+20del"	"r.(=)"	"p.(=)"	""
"0000520239"	"00025656"	"30"	"951"	"19"	"951"	"19"	"c.951+19C>G"	"r.(=)"	"p.(=)"	""
"0000520240"	"00025656"	"30"	"951"	"19"	"951"	"19"	"c.951+19C>G"	"r.(=)"	"p.(=)"	""
"0000520241"	"00025656"	"30"	"951"	"14"	"951"	"15"	"c.951+14_951+15del"	"r.(=)"	"p.(=)"	""
"0000520242"	"00025656"	"30"	"951"	"14"	"951"	"14"	"c.951+14C>G"	"r.(=)"	"p.(=)"	""
"0000520244"	"00025656"	"30"	"951"	"10"	"951"	"10"	"c.951+10T>G"	"r.(=)"	"p.(=)"	""
"0000520246"	"00025656"	"30"	"881"	"0"	"881"	"0"	"c.881A>G"	"r.(?)"	"p.(Asp294Gly)"	""
"0000520247"	"00025656"	"50"	"586"	"0"	"586"	"0"	"c.586G>C"	"r.(?)"	"p.(Glu196Gln)"	""
"0000520249"	"00025656"	"50"	"506"	"0"	"506"	"0"	"c.506A>G"	"r.(?)"	"p.(Asn169Ser)"	""
"0000520250"	"00025656"	"30"	"376"	"0"	"376"	"0"	"c.376C>G"	"r.(?)"	"p.(His126Asp)"	""
"0000520252"	"00025656"	"30"	"324"	"0"	"324"	"0"	"c.324C>T"	"r.(?)"	"p.(Asn108=)"	""
"0000520253"	"00025656"	"30"	"129"	"7"	"129"	"7"	"c.129+7C>A"	"r.(=)"	"p.(=)"	""
"0000520255"	"00025656"	"50"	"53"	"0"	"53"	"0"	"c.53C>G"	"r.(?)"	"p.(Thr18Arg)"	""
"0000608779"	"00025656"	"30"	"967"	"0"	"967"	"0"	"c.967G>C"	"r.(?)"	"p.(Val323Leu)"	""
"0000608780"	"00025656"	"30"	"951"	"28"	"951"	"29"	"c.951+28_951+29insGC"	"r.(=)"	"p.(=)"	""
"0000608781"	"00025656"	"30"	"951"	"28"	"951"	"29"	"c.951+28_951+29insGGC"	"r.(=)"	"p.(=)"	""
"0000608782"	"00025656"	"30"	"951"	"28"	"951"	"29"	"c.951+28_951+29insGGGC"	"r.(=)"	"p.(=)"	""
"0000608783"	"00025656"	"30"	"211"	"-15"	"211"	"-15"	"c.211-15del"	"r.(=)"	"p.(=)"	""
"0000608784"	"00025656"	"50"	"187"	"0"	"187"	"0"	"c.187G>A"	"r.(?)"	"p.(Glu63Lys)"	""
"0000624876"	"00025656"	"50"	"714"	"0"	"714"	"0"	"c.714G>T"	"r.(?)"	"p.(Gln238His)"	""
"0000624877"	"00025656"	"50"	"291"	"0"	"294"	"0"	"c.291_294del"	"r.(?)"	"p.(Ser98ArgfsTer13)"	""
"0000651288"	"00025656"	"70"	"1000"	"0"	"1000"	"0"	"c.1000G>A"	"r.(?)"	"p.(Asp334Asn)"	""
"0000654992"	"00025656"	"50"	"299"	"0"	"299"	"0"	"c.299C>T"	"r.(?)"	"p.(Thr100Ile)"	""
"0000675333"	"00025656"	"90"	"95"	"0"	"95"	"0"	"c.95C>T"	"r.(?)"	"p.(Pro32Leu)"	""
"0000675344"	"00025656"	"90"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Arg74*)"	""
"0000675365"	"00025656"	"90"	"988"	"0"	"988"	"0"	"c.988G>A"	"r.(?)"	"p.(Val330Ile)"	""
"0000675368"	"00025656"	"90"	"1000"	"0"	"1000"	"0"	"c.1000G>A"	"r.(?)"	"p.(Asp334Asn)"	""
"0000689112"	"00025656"	"50"	"1027"	"0"	"1027"	"0"	"c.1027G>C"	"r.(?)"	"p.(Val343Leu)"	""
"0000693817"	"00025656"	"70"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000693818"	"00025656"	"70"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000693819"	"00025656"	"70"	"190"	"0"	"190"	"0"	"c.190del"	"r.(?)"	"p.(Met64*)"	""
"0000693836"	"00025656"	"70"	"859"	"0"	"859"	"0"	"c.859C>T"	"r.(?)"	"p.(Arg287Trp)"	""
"0000693837"	"00025656"	"70"	"859"	"0"	"859"	"0"	"c.859C>T"	"r.(?)"	"p.(Arg287Trp)"	""
"0000693838"	"00025656"	"70"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000697587"	"00025656"	"70"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000697588"	"00025656"	"70"	"859"	"0"	"859"	"0"	"c.859C>T"	"r.(?)"	"p.(Arg287Trp)"	""
"0000697589"	"00025656"	"70"	"190"	"0"	"190"	"0"	"c.190del"	"r.(?)"	"p.(Met64*)"	""
"0000719513"	"00025656"	"50"	"17772"	"0"	"17772"	"0"	"c.*16689C>T"	"r.(=)"	"p.(=)"	""
"0000719514"	"00025656"	"50"	"10314"	"0"	"10314"	"0"	"c.*9231G>A"	"r.(=)"	"p.(=)"	""
"0000719515"	"00025656"	"50"	"8923"	"0"	"8923"	"0"	"c.*7840C>T"	"r.(=)"	"p.(=)"	""
"0000719516"	"00025656"	"70"	"972"	"0"	"972"	"0"	"c.972dup"	"r.(?)"	"p.(Val325SerfsTer4)"	""
"0000719517"	"00025656"	"30"	"951"	"15"	"951"	"15"	"c.951+15T>G"	"r.(=)"	"p.(=)"	""
"0000719518"	"00025656"	"50"	"951"	"19"	"951"	"23"	"c.951+19_951+23dup"	"r.(=)"	"p.(=)"	""
"0000719519"	"00025656"	"50"	"516"	"0"	"516"	"0"	"c.516C>G"	"r.(?)"	"p.(Asn172Lys)"	""
"0000719520"	"00025656"	"50"	"332"	"0"	"332"	"0"	"c.332T>C"	"r.(?)"	"p.(Val111Ala)"	""
"0000719521"	"00025656"	"50"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000719522"	"00025656"	"90"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000801306"	"00025656"	"30"	"31398"	"0"	"31398"	"0"	"c.*30315T>C"	"r.(=)"	"p.(=)"	""
"0000801307"	"00025656"	"30"	"25408"	"0"	"25408"	"0"	"c.*24325C>G"	"r.(=)"	"p.(=)"	""
"0000818997"	"00025656"	"70"	"391"	"0"	"391"	"0"	"c.391G>T"	"r.(?)"	"p.(Gly131Cys)"	""
"0000818998"	"00025656"	"70"	"391"	"0"	"391"	"0"	"c.391G>T"	"r.(?)"	"p.(Gly131Cys)"	""
"0000818999"	"00025656"	"70"	"787"	"0"	"787"	"0"	"c.787G>A"	"r.(?)"	"p.(Gly263Ser)"	""
"0000819000"	"00025656"	"70"	"343"	"0"	"343"	"0"	"c.343T>C"	"r.(?)"	"p.(Phe115Leu)"	""
"0000819001"	"00025656"	"70"	"787"	"0"	"787"	"0"	"c.787G>A"	"r.(?)"	"p.(Gly263Ser)"	""
"0000821785"	"00025656"	"90"	"787"	"0"	"787"	"0"	"c.787G>A"	"r.(?)"	"p.(Gly263Ser)"	""
"0000821786"	"00025656"	"90"	"860"	"0"	"860"	"0"	"c.860G>T"	"r.(?)"	"p.(Arg287Leu)"	""
"0000821787"	"00025656"	"90"	"1016"	"0"	"1016"	"0"	"c.1016A>G"	"r.(?)"	"p.(Asn339Ser)"	""
"0000821788"	"00025656"	"90"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Val111Met)"	""
"0000821789"	"00025656"	"90"	"1070"	"0"	"1070"	"0"	"c.1070G>A"	"r.(?)"	"p.(Arg357His)"	""
"0000821790"	"00025656"	"90"	"1070"	"0"	"1070"	"0"	"c.1070G>A"	"r.(?)"	"p.(Arg357His)"	""
"0000821791"	"00025656"	"90"	"1070"	"0"	"1070"	"0"	"c.1070G>A"	"r.(?)"	"p.(Arg357His)"	""
"0000821909"	"00025656"	"90"	"391"	"0"	"391"	"0"	"c.391G>T"	"r.(?)"	"p.(Gly131Cys)"	""
"0000821910"	"00025656"	"90"	"851"	"0"	"851"	"0"	"c.851T>C"	"r.(?)"	"p.(Val284Ala)"	""
"0000821911"	"00025656"	"90"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Val197Phe)"	""
"0000821912"	"00025656"	"90"	"1090"	"0"	"1090"	"0"	"c.1090T>A"	"r.(?)"	"p.(Tyr364Asn)"	""
"0000821913"	"00025656"	"90"	"1018"	"0"	"1018"	"0"	"c.1018G>A"	"r.(?)"	"p.(Gly340Arg)"	""
"0000821914"	"00025656"	"90"	"877"	"0"	"877"	"0"	"c.877C>T"	"r.(?)"	"p.(Arg293Trp)"	""
"0000821915"	"00025656"	"90"	"966"	"0"	"966"	"0"	"c.966C>A"	"r.(?)"	"p.(Asn322Lys)"	""
"0000821918"	"00025656"	"90"	"1000"	"0"	"1000"	"0"	"c.1000G>A"	"-"	"p.Asp334Asn"	""
"0000821919"	"00025656"	"90"	"988"	"0"	"988"	"0"	"c.988G>A"	"-"	"p.Val330Ile"	""
"0000821920"	"00025656"	"90"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.Arg287Gln"	""
"0000821921"	"00025656"	"90"	"64"	"0"	"64"	"0"	"c.64C>T"	"r.(?)"	"p.Pro22Ser"	""
"0000821922"	"00025656"	"30"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.Asp27His"	""
"0000821923"	"00025656"	"90"	"95"	"0"	"95"	"0"	"c.95C>T"	"r.(?)"	"p.Pro32Leu"	""
"0000821924"	"00025656"	"30"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.Arg185Cys"	""
"0000833135"	"00025656"	"70"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Cys)"	""
"0000841152"	"00025656"	"90"	"291"	"0"	"294"	"0"	"c.291_294del"	"r.(?)"	"p.(Ser98ArgfsTer13)"	""
"0000841187"	"00025656"	"90"	"714"	"0"	"714"	"0"	"c.714G>T"	"r.(?)"	"p.(Gln238His)"	""
"0000844687"	"00025656"	"70"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000844688"	"00025656"	"70"	"848"	"0"	"848"	"0"	"c.848G>C"	"r.(?)"	"p.(Gly283Ala)"	""
"0000844721"	"00025656"	"90"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000844722"	"00025656"	"70"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Arg287Gln)"	""
"0000859089"	"00025656"	"70"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000871915"	"00025656"	"90"	"1000"	"0"	"1000"	"0"	"c.1000G>A"	"r.(?)"	"p.(Asp334Asn)"	"8"
"0000871916"	"00025656"	"90"	"1000"	"0"	"1000"	"0"	"c.1000G>A"	"r.(?)"	"p.(Asp334Asn)"	"8"
"0000881264"	"00025656"	"70"	"827"	"0"	"827"	"0"	"c.827C>T"	"r.(?)"	"p.(Pro276Leu)"	""
"0000881356"	"00025656"	"90"	"860"	"0"	"860"	"0"	"c.860G>A"	"r.(?)"	"p.(Arg287Gln)"	""
"0000885910"	"00025656"	"70"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""
"0000911972"	"00025656"	"10"	"551"	"0"	"551"	"0"	"c.551="	"r.(=)"	"p.(Arg184=)"	""
"0000962829"	"00025656"	"50"	"951"	"19"	"951"	"20"	"c.951+19_951+20del"	"r.(=)"	"p.(=)"	""
"0000975906"	"00025656"	"90"	"859"	"0"	"859"	"0"	"c.859C>T"	"r.(?)"	"p.(Arg287Trp)"	""
"0000987843"	"00025656"	"50"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Val197Phe)"	"Ex6"
"0001034055"	"00025656"	"50"	"38285"	"0"	"38285"	"0"	"c.*37202G>A"	"r.(=)"	"p.(=)"	""
"0001034056"	"00025656"	"50"	"36409"	"0"	"36409"	"0"	"c.*35326G>A"	"r.(=)"	"p.(=)"	""
"0001034057"	"00025656"	"30"	"36352"	"0"	"36352"	"0"	"c.*35269A>C"	"r.(=)"	"p.(=)"	""
"0001034058"	"00025656"	"30"	"23361"	"0"	"23361"	"0"	"c.*22278T>C"	"r.(=)"	"p.(=)"	""
"0001034059"	"00025656"	"30"	"887"	"0"	"887"	"0"	"c.887G>A"	"r.(?)"	"p.(Arg296Gln)"	""
"0001051337"	"00025656"	"50"	"554"	"0"	"554"	"0"	"c.554G>A"	"r.(?)"	"p.(Arg185His)"	""
"0001057961"	"00025656"	"70"	"955"	"0"	"955"	"0"	"c.955C>T"	"r.(?)"	"p.(Arg319Cys)"	""
"0001063973"	"00025656"	"50"	"952"	"-21"	"952"	"-17"	"c.952-21_952-17dup"	"r.(=)"	"p.(=)"	""
"0001063974"	"00025656"	"70"	"79"	"0"	"79"	"0"	"c.79G>C"	"r.(?)"	"p.(Asp27His)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 94
"{{screeningid}}"	"{{variantid}}"
"0000054613"	"0000084563"
"0000054613"	"0000084610"
"0000056434"	"0000086681"
"0000056434"	"0000086708"
"0000056435"	"0000086682"
"0000056435"	"0000086709"
"0000056436"	"0000086683"
"0000056437"	"0000086684"
"0000056437"	"0000086711"
"0000056438"	"0000086685"
"0000056438"	"0000086712"
"0000056439"	"0000086686"
"0000056439"	"0000086713"
"0000056440"	"0000086687"
"0000056440"	"0000086714"
"0000056441"	"0000086688"
"0000056441"	"0000086715"
"0000056442"	"0000086689"
"0000056443"	"0000086690"
"0000056443"	"0000086716"
"0000056444"	"0000086691"
"0000056444"	"0000086717"
"0000056445"	"0000086692"
"0000056445"	"0000086718"
"0000056446"	"0000086693"
"0000056446"	"0000086719"
"0000056447"	"0000086694"
"0000056447"	"0000086720"
"0000056448"	"0000086695"
"0000056448"	"0000086721"
"0000056449"	"0000086696"
"0000056449"	"0000086722"
"0000056450"	"0000086697"
"0000056450"	"0000086723"
"0000056451"	"0000086698"
"0000056451"	"0000086724"
"0000056452"	"0000086699"
"0000056452"	"0000086725"
"0000056453"	"0000086700"
"0000056453"	"0000086726"
"0000056454"	"0000086701"
"0000056455"	"0000086702"
"0000056455"	"0000086727"
"0000056456"	"0000086703"
"0000056456"	"0000086728"
"0000184221"	"0000408230"
"0000271030"	"0000624876"
"0000271030"	"0000624877"
"0000294599"	"0000651288"
"0000308375"	"0000675333"
"0000308375"	"0000675365"
"0000308386"	"0000675344"
"0000308386"	"0000675368"
"0000312261"	"0000693817"
"0000312261"	"0000693836"
"0000312262"	"0000693818"
"0000312262"	"0000693837"
"0000312263"	"0000693819"
"0000312263"	"0000693838"
"0000315498"	"0000697587"
"0000315499"	"0000697588"
"0000315500"	"0000697589"
"0000389759"	"0000818997"
"0000389760"	"0000818998"
"0000389760"	"0000818999"
"0000389761"	"0000819000"
"0000389761"	"0000819001"
"0000391859"	"0000821785"
"0000391859"	"0000821909"
"0000391860"	"0000821786"
"0000391860"	"0000821910"
"0000391861"	"0000821787"
"0000391861"	"0000821911"
"0000391862"	"0000821788"
"0000391862"	"0000821912"
"0000391863"	"0000821789"
"0000391863"	"0000821913"
"0000391864"	"0000821790"
"0000391864"	"0000821914"
"0000391865"	"0000821791"
"0000391865"	"0000821915"
"0000400328"	"0000833135"
"0000405091"	"0000841152"
"0000405091"	"0000841187"
"0000407872"	"0000844687"
"0000407872"	"0000844688"
"0000407895"	"0000844721"
"0000407895"	"0000844722"
"0000414295"	"0000871915"
"0000414296"	"0000871916"
"0000420905"	"0000881264"
"0000420905"	"0000881356"
"0000453271"	"0000987843"
"0000469901"	"0001057961"