### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GNPTG)
# 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}}"
"GNPTG"	"N-acetylglucosamine-1-phosphate transferase, gamma subunit"	"16"	"p13.3"	"unknown"	"NG_016985.1"	"UD_132085282969"	""	"https://www.LOVD.nl/GNPTG"	""	"1"	"23026"	"84572"	"607838"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	""	"g"	"http://databases.lovd.nl/shared/refseq/GNPTG_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2019-07-01 18:15:57"	"00006"	"2025-11-20 12:33:25"


## 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}}"
"00008683"	"GNPTG"	"N-acetylglucosamine-1-phosphate transferase, gamma subunit"	"001"	"NM_032520.4"	""	"NP_115909.1"	""	""	""	"-67"	"1178"	"918"	"1401900"	"1413352"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{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"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01931"	"ML3C"	"mucolipidosis, type III, gamma (ML-3C)"	"AR"	"252605"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04161"	"STUT2"	"stuttering, familial, persistent, type 2 (STUT-2)"	""	"609261"	""	""	""	"00006"	"2014-12-19 16:17:19"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05446"	"ML"	"mucolipidosis (ML)"	""	""	""	""	""	"00006"	"2018-06-27 14:44:08"	""	""
"05517"	"skeletal dysplasia"	"dysplasia, skeletal"	""	""	""	""	""	"00006"	"2018-11-16 16:43:21"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"GNPTG"	"01931"
"GNPTG"	"05446"


## Individuals ## Do not remove or alter this header ##
## Count = 52
"{{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}}"
"00037461"	""	""	""	"2"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037462"	""	""	""	"2"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037463"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037464"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037468"	""	""	""	"3"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037469"	""	""	""	"2"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037470"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037471"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037472"	""	""	""	"2"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037473"	""	""	""	"2"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037474"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037475"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037476"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037477"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037478"	""	""	""	"4"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037479"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037480"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037481"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037482"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037483"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037484"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037485"	""	""	""	"5"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037486"	""	""	""	"2"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037487"	""	""	""	"2"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037488"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037744"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037745"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037746"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037747"	""	""	""	"2"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00165086"	""	""	""	"1"	""	"02508"	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	"M"	""	"China"	"10y"	"0"	""	""	""	"37"
"00165087"	""	""	""	"1"	""	"02508"	"{DOI:Oussoren 2018:10.1007/s10545-018-0186-z}"	""	"M"	""	"Netherlands"	"30y"	"0"	""	""	""	"5"
"00165088"	""	""	""	"1"	""	"02508"	""	""	"M"	""	"Chile"	""	"0"	""	""	""	""
"00165089"	""	""	""	"1"	""	"02508"	"{DOI:Gao 2011:10.1016/j.ymgme.2010.09.007}"	"Chinese family, three affected siblings, two females at the age of 18 and 16 years, respectively, and a 11-year-old male, all had clinical and biochemical findings compatible with the diagnosis of ML III gamma. The patients\' parents were healthy and had no blood-relationship."	"F"	"no"	"China"	"16y"	"0"	""	""	""	""
"00165090"	""	""	""	"1"	""	"02508"	"{DOI:Schrader 2011:10.1002/path.2941}"	"performed exome sequencing of three affected individuals\r\n(nos 63, 83 and 104) and one obligate carrier\r\n(no. 94) to look for novel variants that were consistent\r\nwith this pattern of inheritance in all individuals."	"?"	""	"Canada"	""	"0"	""	""	""	""
"00165091"	""	""	""	"1"	""	"02508"	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	"M"	""	"China"	"10y"	"0"	""	""	""	"38"
"00165092"	""	""	""	"1"	""	"02508"	"{DOI:Velho 2014:10.1016/j.ymgmr.2014.01.002}"	""	"F"	"no"	"Brazil"	"20y"	"0"	""	""	""	""
"00165104"	""	""	""	"1"	""	"02508"	"{DOI:Velho 2016:10.1038/jhg.2016.13.}"	"Two adult patients, who were siblings and presented with clinical and biochemical diagnoses of ML III, were enrolled."	"M"	"?"	"Brazil"	"47y"	"0"	""	""	""	"Henn"
"00165131"	""	""	""	"1"	""	"02508"	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	""	"?"	"no"	"Netherlands"	""	"0"	""	""	""	"15060128-Pat8I"
"00165185"	""	""	""	"1"	""	"00006"	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"?"	"yes"	"Israel"	""	"0"	""	""	"Druze"	"15060128-Pat1"
"00165186"	""	""	""	"2"	""	"00006"	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	"2-generation family, 2 affecteds, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Jewish"	"15060128-Pat2I/II"
"00165187"	""	""	""	"1"	""	"00006"	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Jewish"	"15060128-Pat3"
"00165188"	""	""	""	"2"	""	"00006"	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	"2-generation family, 2 affecteds, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Tunisia"	""	"0"	""	""	"Jewish"	"15060128-Pat4I/II"
"00165189"	""	""	""	"4"	""	"00006"	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	"2-generation family, 4 affecteds, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"15060128-Pat5I/II/III/IV"
"00165190"	""	""	""	"2"	""	"00006"	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	"2-generation family, 2 affecteds, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"Iran"	""	"0"	""	""	"Jewish"	"15060128-Pat6I/II"
"00165191"	""	""	""	"1"	""	"00006"	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"?"	"no"	"Finland"	""	"0"	""	""	""	"15060128-Pat7I"
"00245068"	""	""	"00245069"	"1"	""	"00006"	"{PMID:Tiede 2004:15532026}, {DOI:Tiede 2004:10.1002/humu.9293}"	"sister of patient 1"	"F"	"no"	"Germany"	""	"0"	""	""	""	"patient 2"
"00245069"	""	""	""	"2"	""	"00006"	"{PMID:Tiede 2004:15532026}, {DOI:Tiede 2004:10.1002/humu.9293}"	"2-generation family, 2 affected siblings, unaffected heterozygous carrier parents/relatives"	"M"	""	"Germany"	""	"0"	""	""	""	"patient 1"
"00358963"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case71762"
"00374338"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5444"
"00426126"	""	""	""	"1"	""	"00006"	"{PMID:Al-Kasbi 2022:36344539}"	"patient, other affecteds in family"	"M"	""	"Oman"	""	"0"	""	""	""	"10SN9800"
"00456269"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"Pat47"
"00469848"	""	""	""	"1"	""	"00006"	"{PMID:Jacob 2025:39706863}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	""	""	"India"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 52
"{{individualid}}"	"{{diseaseid}}"
"00037461"	"04161"
"00037462"	"04161"
"00037463"	"04161"
"00037464"	"00000"
"00037468"	"04161"
"00037469"	"04161"
"00037470"	"04161"
"00037471"	"04161"
"00037472"	"04161"
"00037473"	"00000"
"00037474"	"00000"
"00037475"	"04161"
"00037476"	"00000"
"00037477"	"04161"
"00037478"	"04161"
"00037479"	"04161"
"00037480"	"04161"
"00037481"	"04161"
"00037482"	"04161"
"00037483"	"04161"
"00037484"	"04161"
"00037485"	"04161"
"00037486"	"04161"
"00037487"	"04161"
"00037488"	"00000"
"00037744"	"00000"
"00037745"	"00000"
"00037746"	"00000"
"00037747"	"00000"
"00165086"	"01931"
"00165087"	"01931"
"00165088"	"01931"
"00165089"	"01931"
"00165090"	"01931"
"00165091"	"01931"
"00165092"	"01931"
"00165104"	"01931"
"00165131"	"05446"
"00165185"	"05446"
"00165186"	"05446"
"00165187"	"05446"
"00165188"	"05446"
"00165189"	"05446"
"00165190"	"05446"
"00165191"	"05446"
"00245068"	"05446"
"00245069"	"05446"
"00358963"	"04214"
"00374338"	"00198"
"00426126"	"00139"
"00456269"	"00198"
"00469848"	"05517"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01931, 04161, 04214, 05446, 05517
## Count = 43
"{{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}}"
"0000028261"	"04161"	"00037479"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028262"	"04161"	"00037461"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028263"	"04161"	"00037462"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028264"	"04161"	"00037463"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028265"	"04161"	"00037468"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028266"	"04161"	"00037469"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028267"	"04161"	"00037470"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028268"	"04161"	"00037471"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028269"	"04161"	"00037472"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028270"	"04161"	"00037475"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028271"	"04161"	"00037477"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028272"	"04161"	"00037478"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028273"	"04161"	"00037487"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028274"	"04161"	"00037486"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028275"	"04161"	"00037485"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028276"	"04161"	"00037484"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028277"	"04161"	"00037483"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028278"	"04161"	"00037482"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028279"	"04161"	"00037481"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028280"	"04161"	"00037480"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000129958"	"01931"	"00165086"	"02508"	"Familial, autosomal recessive"	"10y"	"First symptom: abnormal flexion of wrist"	""	"10y"	""	""	""	""	""	""	"ML III gamma"	""	""
"0000129959"	"01931"	"00165087"	"02508"	"Familial, autosomal recessive"	"08y00m"	"Height: 170 cm\r\nBMI: 22 kg/m2\r\nCognitive impairment: yes, mild (special needs education)"	""	"08y00m"	""	""	""	""	""	""	"ML III gamma"	""	""
"0000129961"	"01931"	"00165088"	"02508"	"Familial, autosomal recessive"	"07y00m"	"7 year-old Chilean boy\r\nFirst child of non-consanguineous parents with no family history of genetic diseases.\r\nPregnancy and delivery were uneventful. \r\nInguinal hernioplasty surgery at 6 months\r\nDelayed in reaching motor milestones\r\nAt 6 years of age he presented joint stiffness of the fingers, shoulders and hips and mild intellectual disability.\r\nSkeletal radiography showed mild dysostosis multiplex: hypoplastic iliac bones and slanting acetabular roofs. Shortening of the tubular bones of the hands. Lumbar vertebral bodies with shortened anteroposterior diameter and anterosuperior hypoplasia. Skull and ribs were normal \r\nBrain MRI was normal\r\nOcular, hearing and cardiac evaluation was normal\r\nNo visceromegaly was present\r\nNo coarse facial features"	"06y00m"	"07y00m"	""	""	""	""	""	""	"ML III gamma"	"MPS"	""
"0000129962"	"01931"	"00165089"	"02508"	"Familial, autosomal recessive"	"16y"	""	""	"16y"	""	""	""	""	""	""	""	""	""
"0000129963"	"01931"	"00165090"	"02508"	"Familial, autosomal recessive"	""	"Occurrence in an extended family of autosomal\r\nrecessive spondyloepiphyseal dysplasia (SED) and retinitis pigmentosa (RP). Individual family members initially presented with spondyloepiphyseal dysplasia\r\nleading to multiple surgeries in the third to sixth\r\ndecade. It was later determined that a retinitis pigmentosa phenotype, presenting in the third and fourth decades with decreased night vision and leading to significant peripheral and central vision loss or blindness by the fifth to seventh decade, co-segregated with the SED phenotype. Additionally, affected individuals had a high incidence of corneal abnormalities."	""	""	""	""	""	""	""	""	"ML III gamma"	""	""
"0000129964"	"01931"	"00165091"	"02508"	"Familial, autosomal recessive"	"10y"	"First symptom: Scoliosis"	"08y00m"	"10y"	""	""	""	""	""	""	"ML III gamma"	""	""
"0000129965"	"01931"	"00165092"	"02508"	"Familial, autosomal recessive"	"08y"	"The proband, a female born at term to young (maternal and paternal age at conception was 27 years old) and non-consanguineous parents was referred for clinical genetic evaluation\r\ndue to large joint contractures. On physical examination, the patient presented contractures and restrictions of movement, especially in the hands, feet and shoulders, and heart systolic murmur, audible mainly at the left\r\nsternal border. The two-dimensional color Doppler echocardiography revealed the presence of mild thickening\r\nof aortic valve leaflets with mild regurgitation. All other clinical parameters were within normal limits for the patient\'s age. The exam was performed through the subcostal window, as thoracic deformity prevented the use\r\nof standard echocardiographic measures of pulmonary artery systolic pressure. Electroneuromyography of the upper limb was normal, and showed no electrophysiological evidence of peripheral neuropathy. The\r\nsomatosensory evoked potential of the upper and lower limbs was also normal. The patient was diagnosed as having ML III when she was 8 years old, and is currently stable."	""	"08y"	""	""	""	""	""	""	"ML III gamma"	""	""
"0000130001"	"01931"	"00165104"	"02508"	"Familial, autosomal recessive"	"42y"	"Patient A, male, is the third sibling from non-consanguineous parents. First symptoms started at the age of 10 years (claw hands). He developed disabling hip pain because of Legg–Calvé–Perthes disease, and prostheses were inserted bilaterally at 34 and 36 years of age. An umbilical hernia was repaired at the age of 37 years, and severe carpal tunnel syndrome was corrected by wrist surgery at the age of 40 years. At the last visit, he was 42 years old and currently working on the family farm, having no complaints or difficulties in his daily tasks. He\r\ndid not finish high school but does not appear to have cognitive impairment. A physical exam showed mild coarse facial features,\r\nsystolic murmur, no organomegaly, claw hands and severe joint contractures of the shoulders, elbows and knees. In addition to these\r\nsymptoms, he had some difficulty in moving the right leg because of an external rotation of the knee. On echocardiography he had\r\nsupravalvular aortic stenosis, minimal physiological mitral regurgitation, mild tricuspid regurgitation and systolic pulmonary artery\r\npressure at 29mm Hg, without other alterations. The neurological exam was normal. A polysomnography was performed and showed\r\nmild apnea hypopnea index (11.5).\r\nPatient B, male, second sibling from non-consanguineous parents, was diagnosed at the age of 38 years, after the ML III diagnosis of his\r\nbrother (patient A). Claw hands and shoulder contractures were noted since adolescence. He developed disabling hip pain because of\r\nLegg–Calvé–Perthes disease, and prostheses were inserted bilaterally at 38 and 40 years of age, respectively. At his last visit, he was 44 years old and currently working on the family farm, without complaints or difficulties in his tasks. Similar to his brother, he did not finish high school but does not appear to have cognitive impairment. A physical exam showed coarse facial features (even milder than patient A) and mild joint restrictions in the hands, elbow, shoulder and knees.\r\nThe neurological exam was normal. The echocardiogram and polysomnography were normal."	"10y"	"34y05m"	""	""	""	""	""	""	"ML III gamma"	""	""
"0000130028"	"05446"	"00165131"	"02508"	"Familial, autosomal recessive"	""	"see paper; ..., no family history,"	""	"07y"	""	""	""	""	""	""	"ML-3C"	"mucolipidosis"	""
"0000130061"	"05446"	"00165185"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., family history,"	""	""	""	""	""	""	""	""	"ML-3C"	"mucolipidosis"	""
"0000130068"	"05446"	"00165186"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., no family history,"	""	""	""	""	""	""	""	""	"ML-3C"	"mucolipidosis"	""
"0000130069"	"05446"	"00165187"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., family history,"	""	""	""	""	""	""	""	""	"ML-3C"	"mucolipidosis"	""
"0000130070"	"05446"	"00165188"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., family history,"	""	""	""	""	""	""	""	""	"ML-3C"	"mucolipidosis"	""
"0000130071"	"05446"	"00165189"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., family history,"	""	""	""	""	""	""	""	""	"ML-3C"	"mucolipidosis"	""
"0000130072"	"05446"	"00165190"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., family history,"	""	""	""	""	""	""	""	""	"ML-3C"	"mucolipidosis"	""
"0000130073"	"05446"	"00165191"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., family history,"	""	""	""	""	""	""	""	""	"ML-3C"	"mucolipidosis"	""
"0000185026"	"05446"	"00245068"	"00006"	"Familial, autosomal recessive"	"11y"	"weight/height 10th percentile, relatively long legs, shortened trunk, lumbar spine lordosis; radiologically marked dysostosis multiplex with platyspondyly vertebral bodies, deformity hand bones; no liver or spleen enlargement, normal intelligence"	""	""	"thickened finger joints"	""	""	""	""	""	"ML-3C"	"mucolipidosis"	""
"0000185027"	"05446"	"00245069"	"00006"	"Familial, autosomal recessive"	"12y"	"weight/height 10th percentile, relatively long legs, shortened trunk, lumbar spine lordosis; radiologically marked dysostosis multiplex with platyspondyly vertebral bodies, deformity hand bones; no liver or spleen enlargement, normal intelligence; hyperopia, astigmatism"	""	""	"thickened finger joints"	""	""	""	""	""	"ML-3C"	"mucolipidosis"	""
"0000254261"	"04214"	"00358963"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269548"	"00198"	"00374338"	"00006"	"Familial, autosomal recessive"	""	"Gait imbalance. Brain MRI showed Arnold-Chiari malformation with skeletal features of mucopolysaccharidoses"	""	""	""	""	""	""	""	""	""	"macrocephaly"	""
"0000317276"	"00139"	"00426126"	"00006"	"Familial, autosomal recessive"	"2y"	""	""	""	""	""	""	""	""	""	"Mucolipidosis III gamma"	"intellectual disability"	""
"0000344788"	"00198"	"00456269"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"lysosomal storage disorder"	""
"0000354993"	"05517"	"00469848"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"ML3G"	"skeletal dysplasia"	""


## Screenings ## Do not remove or alter this header ##
## Count = 52
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000037531"	"00037461"	"1"	"01178"	"01178"	"2015-04-03 16:34:17"	""	""	"CSCE"	"DNA"	""	""
"0000037532"	"00037462"	"1"	"01178"	"01178"	"2015-04-03 16:40:54"	""	""	"CSCE"	"DNA"	""	""
"0000037533"	"00037463"	"1"	"01178"	"01178"	"2015-04-03 16:53:41"	""	""	"CSCE"	"DNA"	""	""
"0000037534"	"00037464"	"1"	"01178"	"01178"	"2015-04-03 16:56:18"	""	""	"CSCE"	"DNA"	""	""
"0000037538"	"00037468"	"1"	"01178"	"01178"	"2015-04-03 16:59:08"	""	""	"CSCE"	"DNA"	""	""
"0000037539"	"00037469"	"1"	"01178"	"01178"	"2015-04-03 17:01:26"	""	""	"CSCE"	"DNA"	""	""
"0000037540"	"00037470"	"1"	"01178"	"01178"	"2015-04-03 17:03:59"	""	""	"CSCE"	"DNA"	""	""
"0000037541"	"00037471"	"1"	"01178"	"01178"	"2015-04-03 17:06:21"	""	""	"CSCE"	"DNA"	""	""
"0000037542"	"00037472"	"1"	"01178"	"01178"	"2015-04-03 17:08:35"	""	""	"CSCE"	"DNA"	""	""
"0000037543"	"00037473"	"1"	"01178"	"01178"	"2015-04-03 17:11:10"	""	""	"CSCE"	"DNA"	""	""
"0000037544"	"00037474"	"1"	"01178"	"01178"	"2015-04-03 17:13:44"	""	""	"CSCE"	"DNA"	""	""
"0000037545"	"00037475"	"1"	"01178"	"01178"	"2015-04-03 17:16:04"	""	""	"CSCE"	"DNA"	""	""
"0000037546"	"00037476"	"1"	"01178"	"01178"	"2015-04-03 17:17:55"	""	""	"CSCE"	"DNA"	""	""
"0000037547"	"00037477"	"1"	"01178"	"01178"	"2015-04-03 17:19:53"	""	""	"CSCE"	"DNA"	""	""
"0000037548"	"00037478"	"1"	"01178"	"01178"	"2015-04-03 17:21:52"	""	""	"CSCE"	"DNA"	""	""
"0000037549"	"00037479"	"1"	"01178"	"01178"	"2015-04-03 17:24:56"	""	""	"CSCE"	"DNA"	""	""
"0000037550"	"00037480"	"1"	"01178"	"01178"	"2015-04-03 17:27:25"	""	""	"CSCE"	"DNA"	""	""
"0000037551"	"00037481"	"1"	"01178"	"01178"	"2015-04-03 17:29:23"	""	""	"CSCE"	"DNA"	""	""
"0000037552"	"00037482"	"1"	"01178"	"01178"	"2015-04-03 17:31:29"	""	""	"CSCE"	"DNA"	""	""
"0000037553"	"00037483"	"1"	"01178"	"01178"	"2015-04-03 17:33:33"	""	""	"CSCE"	"DNA"	""	""
"0000037554"	"00037484"	"1"	"01178"	"01178"	"2015-04-03 17:35:22"	""	""	"CSCE"	"DNA"	""	""
"0000037555"	"00037485"	"1"	"01178"	"01178"	"2015-04-03 17:37:52"	""	""	"CSCE"	"DNA"	""	""
"0000037556"	"00037486"	"1"	"01178"	"01178"	"2015-04-03 17:40:36"	""	""	"CSCE"	"DNA"	""	""
"0000037557"	"00037487"	"1"	"01178"	"01178"	"2015-04-03 17:42:53"	""	""	"CSCE"	"DNA"	""	""
"0000037558"	"00037488"	"1"	"01178"	"01178"	"2015-04-03 17:44:59"	""	""	"CSCE"	"DNA"	""	""
"0000037976"	"00037744"	"1"	"01178"	"00006"	"2015-05-01 21:53:13"	""	""	"CSCE"	"DNA"	""	""
"0000037977"	"00037745"	"1"	"01178"	"00006"	"2015-05-01 21:58:17"	""	""	"CSCE"	"DNA"	""	""
"0000037978"	"00037746"	"1"	"01178"	"00006"	"2015-05-01 22:14:16"	""	""	"CSCE"	"DNA"	""	""
"0000037979"	"00037747"	"1"	"01178"	"00006"	"2015-05-01 22:19:51"	""	""	"CSCE"	"DNA"	""	""
"0000165958"	"00165086"	"1"	"02508"	"02508"	"2018-06-21 14:38:05"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000165959"	"00165087"	"1"	"02508"	"02508"	"2018-06-21 15:01:26"	""	""	"SEQ"	"DNA"	"Fibroblasts"	"g"
"0000165960"	"00165088"	"1"	"02508"	"02508"	"2018-06-21 15:29:52"	""	""	"SEQ"	"DNA;RNA"	"Blood"	""
"0000165961"	"00165089"	"1"	"02508"	"02508"	"2018-06-21 15:47:41"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000165962"	"00165090"	"1"	"02508"	"02508"	"2018-06-21 16:01:38"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000165963"	"00165091"	"1"	"02508"	"02508"	"2018-06-21 16:21:32"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000165964"	"00165092"	"1"	"02508"	"02508"	"2018-06-21 16:48:28"	""	""	"SEQ"	"DNA"	"Blood, buccal cells and fibroblasts"	""
"0000165979"	"00165104"	"1"	"02508"	"02508"	"2018-06-26 15:08:32"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000166007"	"00165131"	"1"	"02508"	"00006"	"2018-06-27 14:47:52"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000166061"	"00165185"	"1"	"00006"	"00006"	"2018-06-29 11:45:27"	""	""	"SEQ"	"DNA"	""	""
"0000166062"	"00165186"	"1"	"00006"	"00006"	"2018-06-29 11:45:27"	""	""	"SEQ"	"DNA"	""	""
"0000166063"	"00165187"	"1"	"00006"	"00006"	"2018-06-29 11:45:27"	""	""	"SEQ"	"DNA"	""	""
"0000166064"	"00165188"	"1"	"00006"	"00006"	"2018-06-29 11:45:27"	""	""	"SEQ"	"DNA"	""	""
"0000166065"	"00165189"	"1"	"00006"	"00006"	"2018-06-29 11:45:27"	""	""	"SEQ"	"DNA"	""	""
"0000166066"	"00165190"	"1"	"00006"	"00006"	"2018-06-29 11:45:27"	""	""	"SEQ"	"DNA"	""	""
"0000166067"	"00165191"	"1"	"00006"	"00006"	"2018-06-29 11:45:27"	""	""	"SEQ"	"DNA"	""	""
"0000246180"	"00245069"	"1"	"00006"	"00006"	"2019-07-01 17:28:58"	""	""	"SEQ"	"DNA"	""	""
"0000246181"	"00245068"	"1"	"00006"	"00006"	"2019-07-01 17:29:08"	""	""	"SEQ"	"DNA"	""	""
"0000360200"	"00358963"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000375532"	"00374338"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000427446"	"00426126"	"1"	"00006"	"00006"	"2022-11-28 11:02:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000457886"	"00456269"	"1"	"00006"	"00006"	"2024-10-24 08:52:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000471516"	"00469848"	"1"	"00006"	"00006"	"2025-11-20 12:33:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 53
"{{screeningid}}"	"{{geneid}}"
"0000037531"	"GNPTG"
"0000037532"	"GNPTG"
"0000037533"	"GNPTG"
"0000037534"	"GNPTG"
"0000037538"	"GNPTG"
"0000037539"	"GNPTG"
"0000037540"	"GNPTG"
"0000037541"	"GNPTG"
"0000037542"	"GNPTG"
"0000037543"	"GNPTG"
"0000037544"	"GNPTG"
"0000037545"	"GNPTG"
"0000037546"	"GNPTG"
"0000037547"	"GNPTG"
"0000037548"	"GNPTG"
"0000037549"	"GNPTG"
"0000037550"	"GNPTG"
"0000037551"	"GNPTG"
"0000037552"	"GNPTG"
"0000037553"	"GNPTG"
"0000037554"	"GNPTG"
"0000037555"	"GNPTG"
"0000037556"	"GNPTG"
"0000037557"	"GNPTG"
"0000037558"	"GNPTG"
"0000037976"	"GNPTG"
"0000037977"	"GNPTG"
"0000037978"	"GNPTG"
"0000037979"	"GNPTG"
"0000165958"	"GNPTAB"
"0000165958"	"GNPTG"
"0000165959"	"GNPTAB"
"0000165959"	"GNPTG"
"0000165960"	"GNPTAB"
"0000165960"	"GNPTG"
"0000165961"	"GNPTAB"
"0000165961"	"GNPTG"
"0000165963"	"GNPTAB"
"0000165963"	"GNPTG"
"0000165964"	"GNPTG"
"0000165979"	"GNPTAB"
"0000165979"	"GNPTG"
"0000166007"	"GNPTG"
"0000166061"	"GNPTG"
"0000166062"	"GNPTG"
"0000166063"	"GNPTG"
"0000166064"	"GNPTG"
"0000166065"	"GNPTG"
"0000166066"	"GNPTG"
"0000166067"	"GNPTG"
"0000246180"	"GNPTG"
"0000246181"	"GNPTG"
"0000375532"	"GNPTG"


## 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 = 170
"{{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}}"
"0000064656"	"0"	"70"	"16"	"1401973"	"1401973"	"subst"	"0"	"01178"	"GNPTG_000003"	"g.1401973G>A"	"2/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.1351972G>A"	""	"likely pathogenic"	""
"0000064657"	"0"	"70"	"16"	"1401974"	"1401974"	"subst"	"0"	"01178"	"GNPTG_000004"	"g.1401974C>T"	"2/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.1351973C>T"	""	"likely pathogenic"	""
"0000064658"	"0"	"70"	"16"	"1401981"	"1401989"	"dup"	"0"	"01178"	"GNPTG_000005"	"g.1401981_1401989dup"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.1351980_1351988dup"	""	"likely pathogenic"	""
"0000064662"	"0"	"50"	"16"	"1401985"	"1401985"	"subst"	"0"	"01178"	"GNPTG_000006"	"g.1401985C>T"	"1/677 controls"	""	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.1351984C>T"	""	"VUS"	""
"0000064663"	"0"	"70"	"16"	"1401994"	"1401994"	"subst"	"0"	"01178"	"GNPTG_000007"	"g.1401994T>G"	"3/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.1351993T>G"	""	"likely pathogenic"	""
"0000064664"	"0"	"70"	"16"	"1402124"	"1402124"	"subst"	"0"	"01178"	"GNPTG_000008"	"g.1402124C>A"	"2/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs137853826"	"0"	""	""	"g.1352123C>A"	""	"likely pathogenic"	""
"0000064665"	"0"	"70"	"16"	"1402124"	"1402124"	"subst"	"0"	"01178"	"GNPTG_000009"	"g.1402124C>G"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs137853826"	"0"	""	""	"g.1352123C>G"	""	"likely pathogenic"	""
"0000064666"	"0"	"70"	"16"	"1402143"	"1402143"	"subst"	"0.000133867"	"01178"	"GNPTG_000010"	"g.1402143G>C"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs8052503"	"0"	""	""	"g.1352142G>C"	""	"likely pathogenic"	""
"0000064667"	"0"	"70"	"16"	"1402290"	"1402290"	"subst"	"0.000161636"	"01178"	"GNPTG_000011"	"g.1402290A>T"	"2/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs368478807"	"0"	""	""	"g.1352289A>T"	""	"likely pathogenic"	""
"0000064668"	"0"	"50"	"16"	"1411795"	"1411795"	"subst"	"0"	"01178"	"GNPTG_000012"	"g.1411795C>A"	"2/677 controls"	""	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.1361794C>A"	""	"VUS"	""
"0000064669"	"0"	"59"	"16"	"1411955"	"1411955"	"subst"	"8.1594E-6"	"01178"	"GNPTG_000013"	"g.1411955G>A"	"1/677 controls"	"{DOI:Raas-Rothschild 2004:10.1136/jmg.2003.015222}"	""	""	""	"Germline"	""	"rs137852885"	"0"	""	""	"g.1361954G>A"	""	"pathogenic"	""
"0000064670"	"0"	"70"	"16"	"1412109"	"1412109"	"subst"	"1.65371E-5"	"01178"	"GNPTG_000014"	"g.1412109C>T"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.1362108C>T"	""	"likely pathogenic"	""
"0000064671"	"0"	"50"	"16"	"1412122"	"1412122"	"subst"	"0"	"01178"	"GNPTG_000015"	"g.1412122G>A"	"1/677 controls"	""	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.1362121G>A"	""	"VUS"	""
"0000064672"	"0"	"70"	"16"	"1412245"	"1412245"	"subst"	"0.000643585"	"01178"	"GNPTG_000016"	"g.1412245T>G"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs147109185"	"0"	""	""	"g.1362244T>G"	""	"likely pathogenic"	""
"0000064673"	"0"	"70"	"16"	"1412267"	"1412267"	"subst"	"0.000382936"	"01178"	"GNPTG_000001"	"g.1412267G>A"	"4/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs138018487"	"0"	""	""	"g.1362266G>A"	""	"likely pathogenic"	""
"0000064674"	"0"	"50"	"16"	"1412274"	"1412274"	"subst"	"0.000273171"	"01178"	"GNPTG_000002"	"g.1412274C>T"	"1/1013 patients"	""	""	""	""	"Germline"	"?"	"rs374470431"	"0"	""	""	"g.1362273C>T"	""	"VUS"	""
"0000064675"	"0"	"70"	"16"	"1412294"	"1412294"	"dup"	"0"	"01178"	"GNPTG_000026"	"g.1412294dup"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.1362293dup"	""	"likely pathogenic"	""
"0000064676"	"0"	"50"	"16"	"1412297"	"1412297"	"subst"	"0.00057198"	"01178"	"GNPTG_000025"	"g.1412297G>A"	""	""	""	""	""	"Germline"	"no"	"rs190614894"	"0"	""	""	"g.1362296G>A"	""	"VUS"	""
"0000064677"	"0"	"70"	"16"	"1412483"	"1412483"	"subst"	"6.50576E-5"	"01178"	"GNPTG_000024"	"g.1412483G>A"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs139997459"	"0"	""	""	"g.1362482G>A"	""	"likely pathogenic"	""
"0000064678"	"0"	"70"	"16"	"1412500"	"1412500"	"subst"	"0"	"01178"	"GNPTG_000023"	"g.1412500G>C"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.1362499G>C"	""	"likely pathogenic"	""
"0000064679"	"0"	"70"	"16"	"1412690"	"1412690"	"subst"	"0"	"01178"	"GNPTG_000022"	"g.1412690C>G"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs137853827"	"0"	""	""	"g.1362689C>G"	""	"likely pathogenic"	""
"0000064680"	"0"	"70"	"16"	"1412898"	"1412898"	"subst"	"0.0003414"	"01178"	"GNPTG_000021"	"g.1412898A>G"	"5/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs8062558"	"0"	""	""	"g.1362897A>G"	""	"likely pathogenic"	""
"0000064681"	"0"	"70"	"16"	"1413052"	"1413052"	"subst"	"4.87646E-5"	"01178"	"GNPTG_000020"	"g.1413052A>C"	"2/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs372062796"	"0"	""	""	"g.1363051A>C"	""	"likely pathogenic"	""
"0000064682"	"0"	"70"	"16"	"1413061"	"1413061"	"subst"	"0.000207374"	"01178"	"GNPTG_000019"	"g.1413061G>A"	"2/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.1363060G>A"	""	"likely pathogenic"	""
"0000064683"	"0"	"50"	"16"	"1413078"	"1413078"	"subst"	"4.07169E-6"	"01178"	"GNPTG_000018"	"g.1413078C>T"	"1/677 controls"	""	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.1363077C>T"	""	"VUS"	""
"0000064684"	"0"	"70"	"16"	"1413084"	"1413084"	"subst"	"0.000762003"	"01178"	"GNPTG_000017"	"g.1413084A>G"	"11/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs7187001"	"0"	""	""	"g.1363083A>G"	""	"likely pathogenic"	""
"0000065286"	"0"	"70"	"16"	"1412267"	"1412267"	"subst"	"0.000382936"	"01178"	"GNPTG_000001"	"g.1412267G>A"	"1/677 controls"	""	""	""	""	"Unknown"	""	"rs138018487"	"0"	""	""	"g.1362266G>A"	""	"likely pathogenic"	""
"0000065287"	"0"	"50"	"16"	"1412274"	"1412274"	"subst"	"0.000273171"	"01178"	"GNPTG_000002"	"g.1412274C>T"	"1/677 controls"	""	""	""	""	"Unknown"	""	"rs374470431"	"0"	""	""	"g.1362273C>T"	""	"VUS"	""
"0000065288"	"0"	"70"	"16"	"1412898"	"1412898"	"subst"	"0.0003414"	"01178"	"GNPTG_000021"	"g.1412898A>G"	"1/677 controls"	""	""	""	""	"Unknown"	""	"rs8062558"	"0"	""	""	"g.1362897A>G"	""	"likely pathogenic"	""
"0000065289"	"0"	"70"	"16"	"1413084"	"1413084"	"subst"	"0.000762003"	"01178"	"GNPTG_000017"	"g.1413084A>G"	"2/677 controls"	""	""	""	""	"Unknown"	""	"rs7187001"	"0"	""	""	"g.1363083A>G"	""	"likely pathogenic"	""
"0000247417"	"0"	"50"	"16"	"1402290"	"1402290"	"subst"	"0.000161636"	"02330"	"GNPTG_000011"	"g.1402290A>T"	""	""	""	"GNPTG(NM_032520.4):c.161A>T (p.(Asp54Val)), GNPTG(NM_032520.5):c.161A>T (p.D54V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1352289A>T"	""	"VUS"	""
"0000254994"	"0"	"30"	"16"	"1413084"	"1413084"	"subst"	"0.000762003"	"01943"	"GNPTG_000017"	"g.1413084A>G"	""	""	""	"GNPTG(NM_032520.4):c.910A>G (p.S304G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1363083A>G"	""	"likely benign"	""
"0000277352"	"0"	"99"	"16"	"1411761"	"1411761"	"subst"	"8.12632E-6"	"02330"	"GNPTG_000029"	"g.1411761C>T"	""	""	""	"GNPTG(NM_032520.4):c.196C>T (p.R66*), GNPTG(NM_032520.5):c.196C>T (p.R66*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1361760C>T"	""	"pathogenic"	""
"0000277353"	"0"	"10"	"16"	"1411903"	"1411903"	"subst"	"0.000325275"	"02330"	"GNPTG_000030"	"g.1411903C>T"	""	""	""	"GNPTG(NM_032520.4):c.264C>T (p.N88=), GNPTG(NM_032520.5):c.264C>T (p.N88=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1361902C>T"	""	"benign"	""
"0000277354"	"0"	"30"	"16"	"1412267"	"1412267"	"subst"	"0.000382936"	"02330"	"GNPTG_000001"	"g.1412267G>A"	""	""	""	"GNPTG(NM_032520.5):c.472G>A (p.V158I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1362266G>A"	""	"likely benign"	""
"0000277355"	"0"	"50"	"16"	"1412477"	"1412477"	"subst"	"8.94593E-5"	"02330"	"GNPTG_000032"	"g.1412477T>A"	""	""	""	"GNPTG(NM_032520.5):c.551T>A (p.L184Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1362476T>A"	""	"VUS"	""
"0000277356"	"0"	"10"	"16"	"1412592"	"1412592"	"subst"	"0"	"02330"	"GNPTG_000033"	"g.1412592C>T"	""	""	""	"GNPTG(NM_032520.5):c.610-20C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1362591C>T"	""	"benign"	""
"0000288576"	"0"	"30"	"16"	"1411903"	"1411903"	"subst"	"0.000325275"	"01943"	"GNPTG_000030"	"g.1411903C>T"	""	""	""	"GNPTG(NM_032520.4):c.264C>T (p.N88=), GNPTG(NM_032520.5):c.264C>T (p.N88=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1361902C>T"	""	"likely benign"	""
"0000288577"	"0"	"50"	"16"	"1412303"	"1412303"	"subst"	"0"	"01943"	"GNPTG_000031"	"g.1412303C>T"	""	""	""	"GNPTG(NM_032520.4):c.508C>T (p.H170Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1362302C>T"	""	"VUS"	""
"0000288578"	"0"	"33"	"16"	"1401971"	"1401971"	"subst"	"0"	"01943"	"GNPTG_000027"	"g.1401971C>T"	""	""	""	"GNPTG(NM_032520.4):c.5C>T (p.A2V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1351970C>T"	""	"likely benign"	""
"0000288579"	"0"	"30"	"16"	"1412748"	"1412748"	"subst"	"0.00150331"	"01943"	"GNPTG_000034"	"g.1412748C>T"	""	""	""	"GNPTG(NM_032520.4):c.741+5C>T, GNPTG(NM_032520.5):c.741+5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1362747C>T"	""	"likely benign"	""
"0000324415"	"0"	"30"	"16"	"1402117"	"1402117"	"subst"	"0.000527461"	"01804"	"GNPTG_000028"	"g.1402117G>C"	""	""	""	"GNPTG(NM_032520.4):c.67G>C (p.(Gly23Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1352116G>C"	""	"likely benign"	""
"0000324416"	"0"	"30"	"16"	"1413017"	"1413017"	"dup"	"0"	"01804"	"GNPTG_000035"	"g.1413017dup"	""	""	""	"GNPTG(NM_032520.4):c.842_843insC (p.(His284ProfsTer15))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1363016dup"	""	"likely benign"	""
"0000324417"	"0"	"30"	"16"	"1413031"	"1413031"	"subst"	"0.000195008"	"01804"	"GNPTG_000036"	"g.1413031C>T"	""	""	""	"GNPTG(NM_032520.4):c.857C>T (p.(Thr286Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1363030C>T"	""	"likely benign"	""
"0000324418"	"0"	"50"	"16"	"1417096"	"1417096"	"subst"	"0"	"01804"	"GNPTG_000097"	"g.1417096G>A"	""	""	""	"UNKL(NM_001193388.1):c.1887+147C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1367095G>A"	""	"VUS"	""
"0000324419"	"0"	"50"	"16"	"1420326"	"1420326"	"subst"	"0.00163862"	"01804"	"GNPTG_000099"	"g.1420326C>T"	""	""	""	"UNKL(NM_001193388.1):c.1381G>A (p.(Ala461Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.1370325C>T"	""	"VUS"	""
"0000369785"	"0"	"99"	"16"	"1401979"	"1401979"	"del"	"0"	"02508"	"GNPTG_000038"	"g.1401979del"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1351978del"	""	"pathogenic"	""
"0000369786"	"0"	"99"	"16"	"1402251"	"1402267"	"del"	"0"	"02508"	"GNPTG_000039"	"g.1402251_1402267del"	""	"{DOI:Oussoren 2018:10.1007/s10545-018-0186-z}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1352250_1352266del"	""	"pathogenic"	""
"0000369787"	"21"	"99"	"16"	"1411803"	"1411803"	"subst"	"0"	"02508"	"GNPTG_000040"	"g.1411803G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.1361802G>C"	""	"pathogenic"	""
"0000369788"	"21"	"99"	"16"	"1411872"	"1411872"	"subst"	"0"	"02508"	"GNPTG_000041"	"g.1411872G>C"	""	"{DOI:Gao 2011:10.1016/j.ymgme.2010.09.007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1361871G>C"	""	"pathogenic"	""
"0000369789"	"11"	"99"	"16"	"1412266"	"1412266"	"del"	"0"	"02508"	"GNPTG_000042"	"g.1412266del"	""	"{DOI:Gao 2011:10.1016/j.ymgme.2010.09.007}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362265del"	""	"pathogenic"	""
"0000369790"	"3"	"99"	"16"	"1411877"	"1411882"	"del"	"2.43853E-5"	"02508"	"GNPTG_000043"	"g.1411877_1411882del"	""	"{DOI:Schrader 2011:10.1002/path.2941}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1361876_1361881del"	""	"pathogenic"	""
"0000369791"	"0"	"99"	"16"	"1412536"	"1412536"	"del"	"0"	"02508"	"GNPTG_000044"	"g.1412536del"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	"IVS8+1deG"	""	"Germline"	""	""	"0"	""	""	"g.1362535del"	""	"pathogenic"	""
"0000369793"	"0"	"99"	"16"	"1411882"	"1411882"	"subst"	"0"	"02508"	"GNPTG_000046"	"g.1411882T>A"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1361881T>A"	""	"pathogenic"	""
"0000369794"	"21"	"99"	"16"	"1411883"	"1411886"	"dup"	"0"	"02508"	"GNPTG_000047"	"g.1411883_1411886dup"	""	"{DOI:Velho 2014:10.1016/j.ymgmr.2014.01.002}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.1361882_1361885dup"	""	"pathogenic"	""
"0000369795"	"11"	"99"	"16"	"1412049"	"1412049"	"subst"	"0"	"02508"	"GNPTG_000048"	"g.1412049G>T"	""	"{DOI:Velho 2014:10.1016/j.ymgmr.2014.01.002}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362048G>T"	""	"pathogenic"	""
"0000369796"	"0"	"99"	"16"	"1411924"	"1411924"	"dup"	"0"	"02508"	"GNPTG_000049"	"g.1411924dup"	""	"{DOI:Tüysüz 2018:10.1016/j.gene.2017.11.052}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1361923dup"	""	"pathogenic"	""
"0000369809"	"0"	"99"	"16"	"1412038"	"1412038"	"subst"	"4.10519E-6"	"02508"	"GNPTG_000050"	"g.1412038G>C"	""	"{DOI:Raas-Rothschild 2004:10.1136/jmg.2003.015222}"	""	"IVS5-1G>C"	""	"Germline"	""	""	"0"	""	""	"g.1362037G>C"	""	"pathogenic"	""
"0000369810"	"0"	"99"	"16"	"1412045"	"1412045"	"subst"	"0"	"02508"	"GNPTG_000051"	"g.1412045G>A"	""	"{DOI:Mistri 2018:10.1016/j.ymgme.2017.12.252}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362044G>A"	""	"pathogenic"	""
"0000369811"	"3"	"99"	"16"	"1412049"	"1412049"	"subst"	"0"	"02508"	"GNPTG_000048"	"g.1412049G>T"	""	"{DOI:Velho 2016:10.1038/jhg.2016.13.}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362048G>T"	""	"pathogenic"	""
"0000369812"	"0"	"99"	"16"	"1412052"	"1412052"	"subst"	"0"	"02508"	"GNPTG_000052"	"g.1412052T>C"	""	"{DOI:Oussoren 2018:10.1007/s10545-018-0186-z}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362051T>C"	""	"pathogenic"	""
"0000369813"	"0"	"99"	"16"	"1412054"	"1412054"	"subst"	"0"	"02508"	"GNPTG_000053"	"g.1412054G>A"	""	"{DOI:Persichetti 2009:10.1002/humu.20959}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362053G>A"	""	"pathogenic"	""
"0000369814"	"0"	"99"	"16"	"1412088"	"1412088"	"subst"	"0"	"02508"	"GNPTG_000054"	"g.1412088A>G"	""	"{DOI:Tüysüz 2018:10.1016/j.gene.2017.11.052}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362087A>G"	""	"pathogenic"	""
"0000369815"	"0"	"99"	"16"	"1412097"	"1412097"	"subst"	"0"	"02508"	"GNPTG_000045"	"g.1412097G>C"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362096G>C"	""	"pathogenic"	""
"0000369816"	"0"	"99"	"16"	"1412097"	"1412097"	"subst"	"1.25559E-5"	"02508"	"GNPTG_000055"	"g.1412097G>A"	""	"{DOI:Barea 2015:10.1002/ajmg.a.37213}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362096G>A"	""	"pathogenic"	""
"0000369817"	"0"	"99"	"16"	"1412100"	"1412112"	"del"	"0"	"02508"	"GNPTG_000056"	"g.1412100_1412112del"	""	"{DOI:Raas-Rotschild 2004:10.1136/jmg.2003.015222}"	""	"379 del13bp"	""	"Germline"	""	""	"0"	""	""	"g.1362099_1362111del"	""	"pathogenic"	""
"0000369818"	"0"	"97"	"16"	"1412143"	"1412167"	"del"	"0"	"02508"	"GNPTG_000057"	"g.1412143_1412167del"	""	"{DOI:Oussoren 2018:10.1007/s10545-018-0186-z}"	""	"c.411+11_411+35del"	"The correction of the mutation was done by email contact with the authors.\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000369819"	"0"	"99"	"16"	"1412220"	"1412220"	"subst"	"0"	"02508"	"GNPTG_000058"	"g.1412220G>A"	""	"{DOI:Liu 2014:10.1016/j.gene.2013.11.010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362219G>A"	""	"pathogenic"	""
"0000369820"	"0"	"99"	"16"	"1412240"	"1412240"	"del"	"0"	"02508"	"GNPTG_000059"	"g.1412240del"	""	"{DOI:Raas-Rothschild 2004:10.1136/jmg.2003.015222}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362239del"	""	"pathogenic"	""
"0000369823"	"0"	"99"	"16"	"1412266"	"1412266"	"subst"	"0"	"02508"	"GNPTG_000060"	"g.1412266C>A"	""	"{DOI:Mistri 2018:10.1016/j.ymgme.2017.12.252}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362265C>A"	""	"pathogenic"	""
"0000369825"	"0"	"99"	"16"	"1412294"	"1412294"	"dup"	"0"	"02508"	"GNPTG_000026"	"g.1412294dup"	""	"{DOI:Raas-Rothschild 2000:10.1172/JCI5826}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362293dup"	""	"pathogenic"	""
"0000369829"	"0"	"99"	"16"	"1412296"	"1412296"	"dup"	"0"	"02508"	"GNPTG_000061"	"g.1412296dup"	""	"{DOI:Raas-Tothschild 2004:10.1136/jmg.2003.015222}"	""	"500insC"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362295dup"	""	"pathogenic"	""
"0000369830"	"0"	"90"	"16"	"1412307"	"1412308"	"ins"	"0"	"02508"	"GNPTG_000062"	"g.1412307_1412308insGTGG"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362306_1362307insGTGG"	""	"pathogenic"	""
"0000369831"	"0"	"99"	"16"	"1412309"	"1412309"	"dup"	"0"	"02508"	"GNPTG_000063"	"g.1412309dup"	""	"{DOI:Liu 2014:10.1016/j.gene.2013.11.010}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362308dup"	""	"pathogenic"	""
"0000369840"	"0"	"99"	"16"	"1412443"	"1412443"	"subst"	"8.14147E-6"	"02508"	"GNPTG_000064"	"g.1412443G>A"	""	"{DOI:Pohl 2010:10.1002/ajmg.a.33170}"	""	"IVS7-10G>A"	""	"Germline"	""	""	"0"	""	""	"g.1362442G>A"	""	"pathogenic"	""
"0000369842"	"0"	"99"	"16"	"1412536"	"1412536"	"subst"	"0"	"02508"	"GNPTG_000066"	"g.1412536G>C"	""	"{DOI:Liu 2014:10.1016/j.gene.2013.11.010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362535G>C"	""	"pathogenic"	""
"0000369843"	"0"	"99"	"16"	"1412563"	"1412596"	"del"	"0"	"02508"	"GNPTG_000067"	"g.1412563_1412596del"	""	"{DOI:Persichetti 2009:10.1002/humu.20959}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362562_1362595del"	""	"pathogenic"	""
"0000369844"	"0"	"99"	"16"	"1412610"	"1412610"	"subst"	"1.21869E-5"	"02508"	"GNPTG_000068"	"g.1412610A>G"	""	"{DOI:Persochetti 2009:10.1002/humu.20959}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362609A>G"	""	"pathogenic"	""
"0000369845"	"0"	"99"	"16"	"1412611"	"1412611"	"subst"	"0"	"02508"	"GNPTG_000069"	"g.1412611G>T"	""	"{DOI:Encarnacao 2009:10.1111/j.1399-0004.2009.01185.x}"	""	"IVS8-1G>T"	""	"Germline"	""	""	"0"	""	""	"g.1362610G>T"	""	"pathogenic"	""
"0000369846"	"0"	"99"	"16"	"1412613"	"1412613"	"del"	"0"	"02508"	"GNPTG_000070"	"g.1412613del"	""	"{DOI:Persichetti 2009:10.1002/humu.20959}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362612del"	""	"pathogenic"	""
"0000369847"	"0"	"99"	"16"	"1412621"	"1412622"	"ins"	"0"	"02508"	"GNPTG_000071"	"g.1412621_1412622insT"	""	"{DOI:Pohl 2009:10.1016/j.bbadis.2009.01.009}"	""	"c.619insT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362620_1362621insT"	""	"pathogenic"	""
"0000369848"	"11"	"99"	"16"	"1412640"	"1412641"	"del"	"0"	"02508"	"GNPTG_000072"	"g.1412640_1412641del"	""	"{DOI:Zrhidri 2017:10.1186/s12969-017-0200-2}"	""	""	"The proband (III-2) is a Moroccan 15 years old boy, nonconsanguineous, second child of five siblings among\r\nwhich the two youngest are affected, and was initially admitted for genetic evaluation of familial scleroderma.\r\nHis parents and older brother appear to be healthy\r\nsuggesting an autosomal recessive inheritance pattern.\r\nClinical examination, skeletal survey, Scl 70 antibody, and\r\nSkin biopsy, Electroencephalogram test, and muscle biopsy\r\nwere carried out in the affected siblings."	"Germline"	""	""	"0"	""	""	"g.1362639_1362640del"	""	"pathogenic"	""
"0000369849"	"0"	"99"	"16"	"1412641"	"1412641"	"del"	"0"	"02508"	"GNPTG_000073"	"g.1412641del"	""	"{DOI:Encarnacao 2009:10.1111/j.1399-0004.2009.01185.x}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362640del"	""	"pathogenic"	""
"0000369850"	"0"	"99"	"16"	"1412642"	"1412669"	"del"	"0"	"02508"	"GNPTG_000074"	"g.1412642_1412669del"	""	"{DOI:Persichetti 2009:10.1002/humu.20959}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362641_1362668del"	""	"pathogenic"	""
"0000369866"	"0"	"99"	"16"	"1412656"	"1412659"	"del"	"0"	"02508"	"GNPTG_000075"	"g.1412656_1412659del"	""	"{DOI:Tüysüz 2018:10.1016/j.gene.2017.11.052}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362655_1362658del"	""	"pathogenic"	""
"0000369867"	"0"	"99"	"16"	"1413031"	"1413031"	"subst"	"0.000195008"	"02508"	"GNPTG_000036"	"g.1413031C>T"	""	"{DOI:Persichetti 2009:10.1002/humu.20959}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1363030C>T"	""	"pathogenic"	""
"0000369868"	"0"	"99"	"16"	"1412140"	"1412168"	"del"	"0"	"02508"	"GNPTG_000076"	"g.1412140_1412168del"	""	""	""	""	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000369869"	"1"	"99"	"16"	"1411761"	"1411761"	"subst"	"8.12632E-6"	"02508"	"GNPTG_000029"	"g.1411761C>T"	""	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1361760C>T"	""	"pathogenic"	""
"0000369870"	"2"	"99"	"16"	"1412038"	"1412038"	"subst"	"0"	"02508"	"GNPTG_000077"	"g.1412038G>G"	""	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	""	"IVS5-1G>C"	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000369928"	"3"	"99"	"16"	"1411955"	"1411955"	"subst"	"8.1594E-6"	"00006"	"GNPTG_000013"	"g.1411955G>A"	""	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1361954G>A"	""	"pathogenic"	""
"0000369929"	"3"	"90"	"16"	"1412294"	"1412294"	"dup"	"0"	"00006"	"GNPTG_000026"	"g.1412294dup"	""	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	""	"500insC"	""	"Germline"	""	""	"0"	""	""	"g.1362293dup"	""	"pathogenic"	""
"0000369930"	"3"	"90"	"16"	"1412294"	"1412294"	"dup"	"0"	"00006"	"GNPTG_000026"	"g.1412294dup"	""	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	""	"500insC"	""	"Germline"	"yes"	""	"0"	""	""	"g.1362293dup"	""	"pathogenic"	""
"0000369931"	"3"	"90"	"16"	"1412294"	"1412294"	"dup"	"0"	"00006"	"GNPTG_000026"	"g.1412294dup"	""	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	""	"500insC"	""	"Germline"	""	""	"0"	""	""	"g.1362293dup"	""	"pathogenic"	""
"0000369932"	"3"	"90"	"16"	"1412533"	"1412533"	"dup"	"0"	"00006"	"GNPTG_000078"	"g.1412533dup"	""	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	""	"608insC"	""	"Germline"	""	""	"0"	""	""	"g.1362532dup"	""	"pathogenic"	""
"0000369933"	"3"	"90"	"16"	"1412240"	"1412240"	"del"	"0"	"00006"	"GNPTG_000059"	"g.1412240del"	""	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	""	"445delG"	""	"Germline"	"yes"	""	"0"	""	""	"g.1362239del"	""	"pathogenic"	""
"0000369934"	"3"	"90"	"16"	"1412100"	"1412112"	"del"	"0"	"00006"	"GNPTG_000079"	"g.1412100_1412112del"	""	"{PMID:Raas-Rothschil 2004:15060128 }, {DOI:Raas-Rothschil 2004:10.1136/jmg.2003.015222}"	""	"379 del13bp"	""	"Germline"	""	""	"0"	""	""	"g.1362099_1362111del"	""	"pathogenic"	""
"0000394379"	"0"	"99"	"16"	"1401992"	"1401992"	"del"	"0"	"02508"	"GNPTG_000080"	"g.1401992del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1351991del"	""	"pathogenic"	""
"0000394380"	"0"	"99"	"16"	"1411799"	"1411799"	"subst"	"8.12592E-6"	"02508"	"GNPTG_000081"	"g.1411799G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1361798G>A"	""	"pathogenic"	""
"0000394381"	"0"	"99"	"16"	"1412044"	"1412044"	"subst"	"4.10904E-6"	"02508"	"GNPTG_000082"	"g.1412044G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362043G>A"	""	"pathogenic"	""
"0000394382"	"0"	"99"	"16"	"1412533"	"1412533"	"subst"	"0"	"02508"	"GNPTG_000083"	"g.1412533C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362532C>T"	""	"pathogenic"	""
"0000394383"	"0"	"99"	"16"	"1412533"	"1412533"	"del"	"0"	"02508"	"GNPTG_000084"	"g.1412533del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362532del"	""	"pathogenic"	""
"0000394388"	"0"	"99"	"16"	"1412656"	"1412659"	"del"	"0"	"02508"	"GNPTG_000085"	"g.1412656_1412659del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362655_1362658del"	""	"pathogenic"	""
"0000405859"	"3"	"99"	"16"	"1412273"	"1412274"	"ins"	"0"	"02508"	"GNPTG_000086"	"g.1412273_1412274insTAGG"	""	"{DOI:Khan 2018:10.1089/gtmb.2018.0123}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.1362272_1362273insTAGG"	""	"pathogenic"	""
"0000458925"	"0"	"97"	"16"	"1412098"	"1412098"	"subst"	"0"	"02508"	"GNPTG_000087"	"g.1412098G>A"	""	"{DOI:Gheldof 2018:10.1002/mgg3.527}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.1362097G>A"	""	"pathogenic"	""
"0000498537"	"3"	"99"	"16"	"1412068"	"1412070"	"del"	"0"	"00006"	"GNPTG_000037"	"g.1412068_1412070del"	""	"{PMID:Tiede 2004:15532026}, {DOI:Tiede 2004:10.1002/humu.9293}"	""	"347_349delACA"	""	"Germline"	"yes"	""	"0"	""	""	"g.1362067_1362069del"	""	"pathogenic (recessive)"	""
"0000498538"	"3"	"99"	"16"	"1412068"	"1412070"	"del"	"0"	"00006"	"GNPTG_000037"	"g.1412068_1412070del"	""	"{PMID:Tiede 2004:15532026}, {DOI:Tiede 2004:10.1002/humu.9293}"	""	"347_349delACA"	""	"Germline"	"yes"	""	"0"	""	""	"g.1362067_1362069del"	""	"pathogenic (recessive)"	""
"0000556605"	"0"	"30"	"16"	"1401977"	"1401977"	"subst"	"8.07667E-5"	"01804"	"BAIAP3_000008"	"g.1401977G>A"	""	""	""	"GNPTG(NM_032520.4):c.11G>A (p.G4E, p.(Gly4Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1351976G>A"	""	"likely benign"	""
"0000556606"	"0"	"10"	"16"	"1402038"	"1402038"	"subst"	"0"	"02330"	"BAIAP3_000009"	"g.1402038G>A"	""	""	""	"GNPTG(NM_032520.5):c.52+20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1352037G>A"	""	"benign"	""
"0000556621"	"0"	"90"	"16"	"1411761"	"1411761"	"subst"	"8.12632E-6"	"01943"	"GNPTG_000029"	"g.1411761C>T"	""	""	""	"GNPTG(NM_032520.4):c.196C>T (p.R66*), GNPTG(NM_032520.5):c.196C>T (p.R66*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1361760C>T"	""	"pathogenic"	""
"0000556622"	"0"	"30"	"16"	"1411805"	"1411805"	"subst"	"0.00375821"	"01804"	"GNPTG_000088"	"g.1411805G>T"	""	""	""	"GNPTG(NM_032520.4):c.233+7G>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1361804G>T"	""	"likely benign"	""
"0000556623"	"0"	"30"	"16"	"1411894"	"1411894"	"subst"	"0.00490798"	"01943"	"GNPTG_000089"	"g.1411894G>A"	""	""	""	"GNPTG(NM_032520.4):c.255G>A (p.P85=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1361893G>A"	""	"likely benign"	""
"0000556624"	"0"	"10"	"16"	"1412021"	"1412021"	"subst"	"0.00190863"	"02330"	"GNPTG_000090"	"g.1412021G>A"	""	""	""	"GNPTG(NM_032520.5):c.318-18G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1362020G>A"	""	"benign"	""
"0000556626"	"0"	"10"	"16"	"1412060"	"1412060"	"subst"	"0.000189403"	"02330"	"GNPTG_000092"	"g.1412060C>T"	""	""	""	"GNPTG(NM_032520.5):c.339C>T (p.I113=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1362059C>T"	""	"benign"	""
"0000556627"	"0"	"10"	"16"	"1412190"	"1412190"	"subst"	"0.00177324"	"02330"	"GNPTG_000093"	"g.1412190C>T"	""	""	""	"GNPTG(NM_032520.5):c.412-17C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1362189C>T"	""	"benign"	""
"0000556628"	"0"	"10"	"16"	"1412272"	"1412272"	"subst"	"0.00011003"	"02330"	"GNPTG_000094"	"g.1412272C>T"	""	""	""	"GNPTG(NM_032520.5):c.477C>T (p.Y159=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1362271C>T"	""	"benign"	""
"0000556629"	"0"	"50"	"16"	"1412297"	"1412297"	"subst"	"0.00057198"	"02330"	"GNPTG_000025"	"g.1412297G>A"	""	""	""	"GNPTG(NM_032520.5):c.502G>A (p.V168I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1362296G>A"	""	"VUS"	""
"0000556630"	"0"	"90"	"16"	"1412659"	"1412677"	"del"	"0"	"01943"	"GNPTG_000095"	"g.1412659_1412677del"	""	""	""	"GNPTG(NM_032520.4):c.657_675delAAAGACCCCAGAAGAAAAT (p.K220Nfs*34)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1362658_1362676del"	""	"pathogenic"	""
"0000556632"	"0"	"30"	"16"	"1412896"	"1412896"	"subst"	"0"	"01943"	"GNPTG_000096"	"g.1412896C>T"	""	""	""	"GNPTG(NM_032520.4):c.812C>T (p.T271M), GNPTG(NM_032520.5):c.812C>T (p.(Thr271Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1362895C>T"	""	"likely benign"	""
"0000556633"	"0"	"30"	"16"	"1420273"	"1420273"	"subst"	"0.000231582"	"01943"	"GNPTG_000098"	"g.1420273C>T"	""	""	""	"UNKL(NM_001193388.3):c.1443G>A (p.A481=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1370272C>T"	""	"likely benign"	""
"0000556640"	"0"	"30"	"16"	"1435317"	"1435328"	"dup"	"0"	"01943"	"GNPTG_000101"	"g.1435317_1435328dup"	""	""	""	"UNKL(NM_001193388.3):c.1156_1167dupCTGGCGTCCAGC (p.L386_S389dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1385316_1385327dup"	""	"likely benign"	""
"0000556646"	"0"	"30"	"16"	"1464665"	"1464665"	"subst"	"2.32164E-5"	"01943"	"GNPTG_000102"	"g.1464665C>G"	""	""	""	"UNKL(NM_001193388.3):c.28G>C (p.A10P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1414664C>G"	""	"likely benign"	""
"0000615696"	"0"	"30"	"16"	"1396909"	"1396909"	"subst"	"0.000396753"	"01804"	"BAIAP3_000010"	"g.1396909C>T"	""	""	""	"BAIAP3(NM_001199096.1):c.2596C>T (p.(Arg866Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1346908C>T"	""	"likely benign"	""
"0000615697"	"0"	"30"	"16"	"1412633"	"1412633"	"subst"	"1.21841E-5"	"01804"	"GNPTG_000103"	"g.1412633A>T"	""	""	""	"GNPTG(NM_032520.4):c.631A>T (p.(Thr211Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1362632A>T"	""	"likely benign"	""
"0000615698"	"0"	"30"	"16"	"1417773"	"1417773"	"subst"	"2.80811E-5"	"01804"	"GNPTG_000104"	"g.1417773G>C"	""	""	""	"UNKL(NM_001193388.1):c.1672C>G (p.(Pro558Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.1367772G>C"	""	"likely benign"	""
"0000725442"	"0"	"30"	"16"	"1402007"	"1402007"	"subst"	"0"	"01943"	"BAIAP3_000013"	"g.1402007T>C"	""	""	""	"GNPTG(NM_032520.4):c.41T>C (p.L14P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000725443"	"0"	"90"	"16"	"1412038"	"1412038"	"subst"	"4.10519E-6"	"01943"	"GNPTG_000050"	"g.1412038G>C"	""	""	""	"GNPTG(NM_032520.4):c.318-1G>C, GNPTG(NM_032520.5):c.318-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000725444"	"0"	"50"	"16"	"1412883"	"1412883"	"subst"	"1.21907E-5"	"01943"	"GNPTG_000105"	"g.1412883G>A"	""	""	""	"GNPTG(NM_032520.4):c.799G>A (p.G267S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725445"	"0"	"30"	"16"	"1413032"	"1413032"	"subst"	"4.06312E-6"	"01943"	"GNPTG_000106"	"g.1413032G>A"	""	""	""	"GNPTG(NM_032520.4):c.858G>A (p.T286=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000760023"	"0"	"50"	"16"	"1412297"	"1412297"	"subst"	"0.00057198"	"00000"	"GNPTG_000025"	"g.1412297G>A"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362296G>A"	""	"VUS"	""
"0000786883"	"3"	"70"	"16"	"1411755"	"1411758"	"dup"	"0"	"00006"	"GNPTG_000107"	"g.1411755_1411758dup"	""	"{PMID:Ganapathy 2019:31069529}"	""	"c.189_192dupTCTC"	""	"Germline"	""	""	"0"	""	""	"g.1361754_1361757dup"	""	"likely pathogenic"	""
"0000807060"	"0"	"30"	"16"	"1401977"	"1401977"	"subst"	"8.07667E-5"	"01943"	"BAIAP3_000008"	"g.1401977G>A"	""	""	""	"GNPTG(NM_032520.4):c.11G>A (p.G4E, p.(Gly4Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000807061"	"0"	"30"	"16"	"1402153"	"1402153"	"subst"	"0"	"01804"	"BAIAP3_000014"	"g.1402153G>A"	""	""	""	"GNPTG(NM_032520.4):c.103G>A (p.(Ala35Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000807064"	"0"	"50"	"16"	"1411934"	"1411934"	"subst"	"3.66452E-5"	"01943"	"GNPTG_000108"	"g.1411934A>G"	""	""	""	"GNPTG(NM_032520.4):c.295A>G (p.N99D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000807065"	"0"	"30"	"16"	"1412311"	"1412311"	"subst"	"7.76969E-5"	"01943"	"GNPTG_000109"	"g.1412311C>T"	""	""	""	"GNPTG(NM_032520.4):c.516C>T (p.H172=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854276"	"0"	"30"	"16"	"1402124"	"1402124"	"subst"	"0"	"01804"	"GNPTG_000008"	"g.1402124C>A"	""	""	""	"GNPTG(NM_032520.4):c.74C>A (p.(Ala25Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854278"	"0"	"30"	"16"	"1412662"	"1412662"	"subst"	"5.28129E-5"	"02330"	"GNPTG_000111"	"g.1412662G>A"	""	""	""	"GNPTG(NM_032520.5):c.660G>A (p.K220=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000864295"	"0"	"30"	"16"	"1412545"	"1412545"	"subst"	"7.31922E-5"	"01943"	"GNPTG_000110"	"g.1412545C>T"	""	""	""	"GNPTG(NM_032520.4):c.609+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000864296"	"0"	"30"	"16"	"1412748"	"1412748"	"subst"	"0.00150331"	"02330"	"GNPTG_000034"	"g.1412748C>T"	""	""	""	"GNPTG(NM_032520.4):c.741+5C>T, GNPTG(NM_032520.5):c.741+5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000864297"	"0"	"30"	"16"	"1412898"	"1412898"	"subst"	"0.0003414"	"01943"	"GNPTG_000021"	"g.1412898A>G"	""	""	""	"GNPTG(NM_032520.4):c.814A>G (p.R272G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000892526"	"0"	"30"	"16"	"1412562"	"1412562"	"subst"	"0"	"02325"	"GNPTG_000112"	"g.1412562G>A"	""	""	""	"GNPTG(NM_032520.5):c.609+27G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000904806"	"3"	"70"	"16"	"1413061"	"1413061"	"subst"	"0.000207374"	"00006"	"GNPTG_000019"	"g.1413061G>A"	""	"{PMID:Al-Kasbi 2022:36344539}"	""	""	""	"Germline"	""	"rs561640998"	"0"	""	""	"g.1363060G>A"	"VCV000317895.7"	"VUS"	""
"0000914461"	"0"	"50"	"16"	"1412274"	"1412274"	"subst"	"0.000273171"	"02325"	"GNPTG_000002"	"g.1412274C>T"	""	""	""	"GNPTG(NM_032520.5):c.479C>T (p.A160V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000914462"	"0"	"50"	"16"	"1412498"	"1412498"	"subst"	"0"	"02325"	"GNPTG_000113"	"g.1412498T>C"	""	""	""	"GNPTG(NM_032520.5):c.572T>C (p.V191A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000926123"	"0"	"30"	"16"	"1397757"	"1397757"	"subst"	"0.000152781"	"01804"	"BAIAP3_000015"	"g.1397757C>T"	""	""	""	"BAIAP3(NM_001199096.1):c.2852C>T (p.(Ala951Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926124"	"0"	"30"	"16"	"1400112"	"1400112"	"subst"	"0.00185634"	"01804"	"BAIAP3_000016"	"g.1400112G>A"	""	""	""	"TSR3(NM_001001410.2):c.650C>T (p.(Ala217Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950508"	"0"	"30"	"16"	"1411748"	"1411748"	"subst"	"0.000125963"	"02330"	"GNPTG_000114"	"g.1411748C>T"	""	""	""	"GNPTG(NM_032520.5):c.183C>T (p.P61=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950509"	"0"	"30"	"16"	"1412686"	"1412686"	"subst"	"0.000105622"	"02330"	"GNPTG_000115"	"g.1412686C>G"	""	""	""	"GNPTG(NM_032520.5):c.684C>G (p.T228=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000968096"	"0"	"90"	"16"	"1411761"	"1411761"	"subst"	"8.12632E-6"	"02327"	"GNPTG_000029"	"g.1411761C>T"	""	""	""	"GNPTG(NM_032520.4):c.196C>T (p.R66*), GNPTG(NM_032520.5):c.196C>T (p.R66*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000968097"	"0"	"70"	"16"	"1411877"	"1411882"	"del"	"2.43853E-5"	"02327"	"GNPTG_000043"	"g.1411877_1411882del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000981594"	"0"	"50"	"16"	"1401939"	"1401939"	"subst"	"0.000812348"	"01804"	"BAIAP3_000017"	"g.1401939G>A"	""	""	""	"GNPTG(NM_032520.5):c.-28G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981600"	"0"	"50"	"16"	"1412280"	"1412280"	"subst"	"1.63092E-5"	"01804"	"GNPTG_000116"	"g.1412280C>T"	""	""	""	"GNPTG(NM_032520.5):c.485C>T (p.(Thr162Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981601"	"0"	"50"	"16"	"1412896"	"1412896"	"subst"	"0"	"01804"	"GNPTG_000096"	"g.1412896C>T"	""	""	""	"GNPTG(NM_032520.4):c.812C>T (p.T271M), GNPTG(NM_032520.5):c.812C>T (p.(Thr271Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981602"	"0"	"50"	"16"	"1413061"	"1413061"	"subst"	"0.000207374"	"01804"	"GNPTG_000019"	"g.1413061G>A"	""	""	""	"GNPTG(NM_032520.5):c.887G>A (p.(Arg296Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001001886"	"0"	"30"	"16"	"1402283"	"1402283"	"subst"	"0"	"01804"	"BAIAP3_000019"	"g.1402283A>C"	""	""	""	"GNPTG(NM_032520.4):c.154A>C (p.(Lys52Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001001887"	"0"	"30"	"16"	"1402290"	"1402290"	"subst"	"0.000161636"	"01804"	"GNPTG_000011"	"g.1402290A>T"	""	""	""	"GNPTG(NM_032520.4):c.161A>T (p.(Asp54Val)), GNPTG(NM_032520.5):c.161A>T (p.D54V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001012433"	"1"	"50"	"16"	"1413031"	"1413031"	"subst"	"0.000195008"	"00006"	"GNPTG_000036"	"g.1413031C>T"	""	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1363030C>T"	""	"VUS"	""
"0001040771"	"0"	"50"	"16"	"1398002"	"1398002"	"subst"	"0"	"01804"	"BAIAP3_000024"	"g.1398002G>A"	""	""	""	"BAIAP3(NM_001199097.2):c.3133G>A (p.(Asp1045Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040775"	"0"	"50"	"16"	"1411960"	"1411960"	"subst"	"2.44694E-5"	"01804"	"GNPTG_000117"	"g.1411960A>T"	""	""	""	"GNPTG(NM_032520.5):c.317+4A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040776"	"0"	"50"	"16"	"1412064"	"1412064"	"subst"	"8.22294E-6"	"01804"	"GNPTG_000118"	"g.1412064A>T"	""	""	""	"GNPTG(NM_032520.5):c.343A>T (p.(Asn115Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040777"	"0"	"50"	"16"	"1412274"	"1412274"	"subst"	"8.56206E-5"	"01804"	"GNPTG_000119"	"g.1412274C>A"	""	""	""	"GNPTG(NM_032520.5):c.479C>A (p.(Ala160Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040778"	"0"	"50"	"16"	"1412702"	"1412702"	"subst"	"4.06289E-6"	"01804"	"GNPTG_000120"	"g.1412702C>A"	""	""	""	"GNPTG(NM_032520.5):c.700C>A (p.(Pro234Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040779"	"0"	"50"	"16"	"1464652"	"1464652"	"subst"	"0"	"01804"	"GNPTG_000121"	"g.1464652C>A"	""	""	""	"UNKL(NM_001372107.1):c.41G>T (p.(Gly14Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055312"	"0"	"30"	"16"	"1400205"	"1400205"	"subst"	"0.000943871"	"01804"	"BAIAP3_000025"	"g.1400205C>T"	""	""	""	"TSR3(NM_001001410.3):c.557G>A (p.(Arg186Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055313"	"0"	"50"	"16"	"1402021"	"1402021"	"subst"	"0"	"01804"	"BAIAP3_000026"	"g.1402021G>C"	""	""	""	"GNPTG(NM_032520.5):c.52+3G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055314"	"0"	"70"	"16"	"1402251"	"1402267"	"del"	"0"	"01804"	"GNPTG_000039"	"g.1402251_1402267del"	""	""	""	"GNPTG(NM_032520.5):c.122_138del (p.(Pro41Glnfs*36))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001055315"	"0"	"50"	"16"	"1411941"	"1411941"	"subst"	"1.22182E-5"	"01804"	"GNPTG_000122"	"g.1411941A>G"	""	""	""	"GNPTG(NM_032520.5):c.302A>G (p.(Tyr101Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055316"	"0"	"90"	"16"	"1412038"	"1412038"	"subst"	"4.10519E-6"	"01804"	"GNPTG_000050"	"g.1412038G>C"	""	""	""	"GNPTG(NM_032520.4):c.318-1G>C, GNPTG(NM_032520.5):c.318-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001055317"	"0"	"50"	"16"	"1412295"	"1412295"	"subst"	"8.16773E-6"	"01804"	"GNPTG_000123"	"g.1412295T>C"	""	""	""	"GNPTG(NM_032520.5):c.500T>C (p.(Leu167Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055318"	"0"	"30"	"16"	"1417818"	"1417818"	"subst"	"0.000308948"	"01804"	"GNPTG_000124"	"g.1417818C>T"	""	""	""	"UNKL(NM_001372107.1):c.1627G>A (p.(Gly543Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001059664"	"3"	"70"	"16"	"1412509"	"1412509"	"del"	"0"	"00006"	"GNPTG_000125"	"g.1412509del"	""	"{PMID:Jacob 2025:39706863}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.1362508del"	"SCV004037082.1"	"likely pathogenic (recessive)"	""


## 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 GNPTG
## Count = 170
"{{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}}"
"0000064656"	"00008683"	"70"	"7"	"0"	"7"	"0"	"c.7G>A"	"r.(?)"	"p.(Ala3Thr)"	"1"
"0000064657"	"00008683"	"70"	"8"	"0"	"8"	"0"	"c.8C>T"	"r.(?)"	"p.(Ala3Val)"	"1"
"0000064658"	"00008683"	"70"	"15"	"0"	"23"	"0"	"c.15_23dup"	"r.(?)"	"p.(Ala6_Leu8dup)"	"1"
"0000064662"	"00008683"	"50"	"19"	"0"	"19"	"0"	"c.19C>T"	"r.(?)"	"p.(Arg7Trp)"	"1"
"0000064663"	"00008683"	"70"	"28"	"0"	"28"	"0"	"c.28T>G"	"r.(?)"	"p.(Leu10Val)"	"1"
"0000064664"	"00008683"	"70"	"74"	"0"	"74"	"0"	"c.74C>A"	"r.(?)"	"p.(Ala25Glu)"	"2"
"0000064665"	"00008683"	"70"	"74"	"0"	"74"	"0"	"c.74C>G"	"r.(?)"	"p.(Ala25Gly)"	"2"
"0000064666"	"00008683"	"70"	"93"	"0"	"93"	"0"	"c.93G>C"	"r.(?)"	"p.(Glu31Asp)"	"2"
"0000064667"	"00008683"	"70"	"161"	"0"	"161"	"0"	"c.161A>T"	"r.(?)"	"p.(Asp54Val)"	"3"
"0000064668"	"00008683"	"50"	"230"	"0"	"230"	"0"	"c.230C>A"	"r.(?)"	"p.(Ser77Tyr)"	"4"
"0000064669"	"00008683"	"59"	"316"	"0"	"316"	"0"	"c.316G>A"	"r.(?)"	"p.(Gly106Ser)"	"5"
"0000064670"	"00008683"	"70"	"388"	"0"	"388"	"0"	"c.388C>T"	"r.(?)"	"p.(Arg130Cys)"	"6"
"0000064671"	"00008683"	"50"	"401"	"0"	"401"	"0"	"c.401G>A"	"r.(?)"	"p.(Arg134Gln)"	"6"
"0000064672"	"00008683"	"70"	"450"	"0"	"450"	"0"	"c.450T>G"	"r.(?)"	"p.(His150Gln)"	"7"
"0000064673"	"00008683"	"70"	"472"	"0"	"472"	"0"	"c.472G>A"	"r.(?)"	"p.(Val158Ile)"	"7"
"0000064674"	"00008683"	"50"	"479"	"0"	"479"	"0"	"c.479C>T"	"r.(?)"	"p.(Ala160Val)"	"7"
"0000064675"	"00008683"	"70"	"499"	"0"	"499"	"0"	"c.499dup"	"r.(?)"	"p.(Leu167Profs*32)"	"7"
"0000064676"	"00008683"	"50"	"502"	"0"	"502"	"0"	"c.502G>A"	"r.(?)"	"p.(Val168Ile)"	"7"
"0000064677"	"00008683"	"70"	"557"	"0"	"557"	"0"	"c.557G>A"	"r.(?)"	"p.(Arg186Gln)"	"8"
"0000064678"	"00008683"	"70"	"574"	"0"	"574"	"0"	"c.574G>C"	"r.(?)"	"p.(Glu192Gln)"	"8"
"0000064679"	"00008683"	"70"	"688"	"0"	"688"	"0"	"c.688C>G"	"r.(?)"	"p.(Leu230Val)"	"9"
"0000064680"	"00008683"	"70"	"814"	"0"	"814"	"0"	"c.814A>G"	"r.(?)"	"p.(Arg272Gly)"	"10"
"0000064681"	"00008683"	"70"	"878"	"0"	"878"	"0"	"c.878A>C"	"r.(?)"	"p.(Glu293Ala)"	"11"
"0000064682"	"00008683"	"70"	"887"	"0"	"887"	"0"	"c.887G>A"	"r.(?)"	"p.(Arg296Gln)"	"11"
"0000064683"	"00008683"	"50"	"904"	"0"	"904"	"0"	"c.904C>T"	"r.(?)"	"p.(Arg302Cys)"	"11"
"0000064684"	"00008683"	"70"	"910"	"0"	"910"	"0"	"c.910A>G"	"r.(?)"	"p.(Ser304Gly)"	"11"
"0000065286"	"00008683"	"70"	"472"	"0"	"472"	"0"	"c.472G>A"	"r.(?)"	"p.(Val158Ile)"	"7"
"0000065287"	"00008683"	"50"	"479"	"0"	"479"	"0"	"c.479C>T"	"r.(?)"	"p.(Ala160Val)"	"7"
"0000065288"	"00008683"	"70"	"814"	"0"	"814"	"0"	"c.814A>G"	"r.(?)"	"p.(Arg272Gly)"	"10"
"0000065289"	"00008683"	"30"	"910"	"0"	"910"	"0"	"c.910A>G"	"r.(?)"	"p.(Ser304Gly)"	"11"
"0000247417"	"00008683"	"50"	"161"	"0"	"161"	"0"	"c.161A>T"	"r.(?)"	"p.(Asp54Val)"	"3"
"0000254994"	"00008683"	"30"	"910"	"0"	"910"	"0"	"c.910A>G"	"r.(?)"	"p.(Ser304Gly)"	"11"
"0000277352"	"00008683"	"99"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Ter)"	"4"
"0000277353"	"00008683"	"10"	"264"	"0"	"264"	"0"	"c.264C>T"	"r.(?)"	"p.(Asn88=)"	"5"
"0000277354"	"00008683"	"30"	"472"	"0"	"472"	"0"	"c.472G>A"	"r.(?)"	"p.(Val158Ile)"	"7"
"0000277355"	"00008683"	"50"	"551"	"0"	"551"	"0"	"c.551T>A"	"r.(?)"	"p.(Leu184Gln)"	"8"
"0000277356"	"00008683"	"10"	"610"	"-20"	"610"	"-20"	"c.610-20C>T"	"r.(=)"	"p.(=)"	"8i"
"0000288576"	"00008683"	"30"	"264"	"0"	"264"	"0"	"c.264C>T"	"r.(?)"	"p.(Asn88=)"	"5"
"0000288577"	"00008683"	"50"	"508"	"0"	"508"	"0"	"c.508C>T"	"r.(?)"	"p.(His170Tyr)"	"7"
"0000288578"	"00008683"	"33"	"5"	"0"	"5"	"0"	"c.5C>T"	"r.(?)"	"p.(Ala2Val)"	"1"
"0000288579"	"00008683"	"30"	"741"	"5"	"741"	"5"	"c.741+5C>T"	"r.spl?"	"p.?"	"9i"
"0000324415"	"00008683"	"30"	"67"	"0"	"67"	"0"	"c.67G>C"	"r.(?)"	"p.(Gly23Arg)"	"2"
"0000324416"	"00008683"	"30"	"843"	"0"	"843"	"0"	"c.843dup"	"r.(?)"	"p.(His284ProfsTer15)"	"11"
"0000324417"	"00008683"	"30"	"857"	"0"	"857"	"0"	"c.857C>T"	"r.(?)"	"p.(Thr286Met)"	"11"
"0000324418"	"00008683"	"50"	"4922"	"0"	"4922"	"0"	"c.*4004G>A"	"r.(=)"	"p.(=)"	""
"0000324419"	"00008683"	"50"	"8152"	"0"	"8152"	"0"	"c.*7234C>T"	"r.(=)"	"p.(=)"	""
"0000369785"	"00008683"	"99"	"13"	"0"	"13"	"0"	"c.13del"	"r.(?)"	"p.(Leu5Trpfs*23)"	"1"
"0000369786"	"00008683"	"99"	"122"	"0"	"138"	"0"	"c.122_138del"	"r.(?)"	"p.(Pro41Glnfs*36)"	"3"
"0000369787"	"00008683"	"99"	"233"	"5"	"233"	"5"	"c.233+5G>C"	"r.spl?"	"p.?"	"4i"
"0000369788"	"00008683"	"99"	"234"	"-1"	"234"	"-1"	"c.234-1G>C"	"r.233_234ins233+1_233+74"	"p.Tyr79Thrfs*24"	"4i"
"0000369789"	"00008683"	"99"	"471"	"0"	"471"	"0"	"c.471del"	"r.(?)"	"p.(Cys157Trpfs*5)"	"7"
"0000369790"	"00008683"	"99"	"238"	"0"	"243"	"0"	"c.238_243del"	"r.(?)"	"p.(Lys80_Tyr81del)"	"5"
"0000369791"	"00008683"	"99"	"609"	"1"	"609"	"1"	"c.609+1del"	"r.spl?"	"p.?"	"8i"
"0000369793"	"00008683"	"99"	"243"	"0"	"243"	"0"	"c.243T>A"	"r.(?)"	"p.(Tyr81*)"	"5"
"0000369794"	"00008683"	"99"	"244"	"0"	"247"	"0"	"c.244_247dup"	"r.(?)"	"p.(Phe83*)"	"5"
"0000369795"	"00008683"	"99"	"328"	"0"	"328"	"0"	"c.328G>T"	"r.(?)"	"p.(Glu110*)"	"6"
"0000369796"	"00008683"	"99"	"285"	"0"	"285"	"0"	"c.285dup"	"r.(?)"	"p.(Phe96Leufs*32)"	"5"
"0000369809"	"00008683"	"99"	"318"	"-1"	"318"	"-1"	"c.318-1G>C"	"r.spl?"	"p.?"	"5i"
"0000369810"	"00008683"	"99"	"324"	"0"	"324"	"0"	"c.324G>A"	"r.(?)"	"p.(Trp108*)"	"6"
"0000369811"	"00008683"	"99"	"328"	"0"	"328"	"0"	"c.328G>T"	"r.(?)"	"p.(Glu110*)"	"6"
"0000369812"	"00008683"	"99"	"331"	"0"	"331"	"0"	"c.331T>C"	"r.(?)"	"p.(Trp111Arg)"	"6"
"0000369813"	"00008683"	"99"	"333"	"0"	"333"	"0"	"c.333G>A"	"r.(?)"	"p.(Trp111*)"	"6"
"0000369814"	"00008683"	"99"	"367"	"0"	"367"	"0"	"c.367A>G"	"r.(?)"	"p.(Met123Val)"	"6"
"0000369815"	"00008683"	"99"	"376"	"0"	"376"	"0"	"c.376G>C"	"r.(?)"	"p.(Gly126Arg)"	"6"
"0000369816"	"00008683"	"99"	"376"	"0"	"376"	"0"	"c.376G>A"	"r.(?)"	"p.(Gly126Ser)"	"6"
"0000369817"	"00008683"	"99"	"379"	"0"	"391"	"0"	"c.379_391del"	"r.(?)"	"p.(Asp127Profs*31)"	"6"
"0000369818"	"00008683"	"97"	"409"	"11"	"411"	"35"	"c.409+11_411+35del"	"r.(=)"	"p.(=)"	"6i"
"0000369819"	"00008683"	"99"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.(Cys142Tyr)"	"7"
"0000369820"	"00008683"	"99"	"445"	"0"	"445"	"0"	"c.445del"	"r.445del"	"p.Ala149Profs*13"	"7"
"0000369823"	"00008683"	"99"	"471"	"0"	"471"	"0"	"c.471C>A"	"r.(?)"	"p.(Cys157*)"	"7"
"0000369825"	"00008683"	"99"	"499"	"0"	"499"	"0"	"c.499dup"	"r.(?)"	"p.(Leu167Profs*32)"	"7"
"0000369829"	"00008683"	"99"	"501"	"0"	"501"	"0"	"c.501dup"	"r.(?)"	"p.(Val168Argfs*31)"	"7"
"0000369830"	"00008683"	"90"	"512"	"0"	"513"	"0"	"c.512_513insGTGG"	"r.(?)"	"p.(His172Trpfs*28)"	"7"
"0000369831"	"00008683"	"99"	"514"	"0"	"514"	"0"	"c.514dup"	"r.(?)"	"p.(His172Profs*27)"	"7"
"0000369840"	"00008683"	"99"	"527"	"-10"	"527"	"-10"	"c.527-10G>A"	"r.526_527ins527-8_527-1"	"p.Val176Glyfs*19"	"7i"
"0000369842"	"00008683"	"99"	"609"	"1"	"609"	"1"	"c.609+1G>C"	"r.spl?"	"p.?"	"8i"
"0000369843"	"00008683"	"99"	"609"	"28"	"610"	"-16"	"c.609+28_610-16del"	"r.609_610ins[609+1_609+27;610-15_610-1]"	"p.Gly204Valfs*17"	"8i"
"0000369844"	"00008683"	"99"	"610"	"-2"	"610"	"-2"	"c.610-2A>G"	"r.[610_741del,c.609_742ins609+1_742-1]"	"p.[Gly204_Lys247del,Gly204Valfs*28]"	"8i"
"0000369845"	"00008683"	"99"	"610"	"-1"	"610"	"-1"	"c.610-1G>T"	"r.[610_741del,609_610ins609+1_610-1, c.609_742ins609+1_742-1]"	"p.[Gly204_Lys247del,Gly204Valfs*28]"	"8i"
"0000369846"	"00008683"	"99"	"611"	"0"	"611"	"0"	"c.611del"	"r.(?)"	"p.(Gly204Alafs*6)"	"9"
"0000369847"	"00008683"	"99"	"619"	"0"	"620"	"0"	"c.619_620insT"	"r.619_620insu"	"p.Lys207Ilefs*8"	"9"
"0000369848"	"00008683"	"99"	"638"	"0"	"639"	"0"	"c.638_639del"	"r.(?)"	"p.(Phe213*)"	"9"
"0000369849"	"00008683"	"99"	"639"	"0"	"639"	"0"	"c.639del"	"r.(?)"	"p.(Phe213Leufs*7)"	"9"
"0000369850"	"00008683"	"99"	"640"	"0"	"667"	"0"	"c.640_667del"	"r.(?)"	"p.(Glu214Lysfs*37)"	"9"
"0000369866"	"00008683"	"99"	"654"	"0"	"657"	"0"	"c.654_657del"	"r.(?)"	"p.(Tyr218*)"	"9"
"0000369867"	"00008683"	"99"	"857"	"0"	"857"	"0"	"c.857C>T"	"r.(?)"	"p.(Thr286Met)"	"11"
"0000369868"	"00008683"	"99"	"411"	"8"	"411"	"35"	"c.411+8_411+35del"	"r.(=)"	"p.Glu139Glyfs*75"	"6i"
"0000369869"	"00008683"	"99"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.196c>u"	"p.Arg66*"	"4"
"0000369870"	"00008683"	"99"	"318"	"-1"	"318"	"-1"	"c.318-1G>G"	"r.318_411del"	"p.Val107Trpfs*24"	"5i"
"0000369928"	"00008683"	"99"	"316"	"0"	"316"	"0"	"c.316G>A"	"r.(?)"	"p.(Gly106Ser)"	"5"
"0000369929"	"00008683"	"90"	"499"	"0"	"499"	"0"	"c.499dup"	"r.(?)"	"p.(Leu167Profs*32)"	"7"
"0000369930"	"00008683"	"90"	"499"	"0"	"499"	"0"	"c.499dup"	"r.(?)"	"p.(Leu167Profs*32)"	"7"
"0000369931"	"00008683"	"90"	"499"	"0"	"499"	"0"	"c.499dup"	"r.(?)"	"p.(Leu167Profs*32)"	"7"
"0000369932"	"00008683"	"90"	"607"	"0"	"607"	"0"	"c.607dup"	"r.(?)"	"p.(Gln203Profs*4)"	"8"
"0000369933"	"00008683"	"90"	"445"	"0"	"445"	"0"	"c.445del"	"r.(?)"	"p.(Ala149Profs*13)"	"7"
"0000369934"	"00008683"	"90"	"379"	"0"	"391"	"0"	"c.379_391del"	"r.(?)"	"p.(Asp127Profs*31)"	"6"
"0000394379"	"00008683"	"99"	"26"	"0"	"26"	"0"	"c.26del"	"r.(?)"	"p.(Leu9Argfs*19)"	"1"
"0000394380"	"00008683"	"99"	"233"	"1"	"233"	"1"	"c.233+1G>A"	"r.spl?"	"p.?"	"4i"
"0000394381"	"00008683"	"99"	"323"	"0"	"323"	"0"	"c.323G>A"	"r.(?)"	"p.(Trp108*)"	"6"
"0000394382"	"00008683"	"99"	"607"	"0"	"607"	"0"	"c.607C>T"	"r.(?)"	"p.(Gln203*)"	"8"
"0000394383"	"00008683"	"99"	"607"	"0"	"607"	"0"	"c.607del"	"r.(?)"	"p.(Gln203Argfs*7)"	"8"
"0000394388"	"00008683"	"99"	"654"	"0"	"657"	"0"	"c.654_657del"	"r.(?)"	"p.(Tyr218*)"	"9"
"0000405859"	"00008683"	"99"	"478"	"0"	"479"	"0"	"c.478_479insTAGG"	"r.(?)"	"p.(Ala160Valfs*40)"	"7"
"0000458925"	"00008683"	"97"	"377"	"0"	"377"	"0"	"c.377G>A"	"r.(?)"	"p.(Gly126Asp)"	"6"
"0000498537"	"00008683"	"99"	"347"	"0"	"349"	"0"	"c.347_349del"	"r.(?)"	"p.(Asn116del)"	"6"
"0000498538"	"00008683"	"99"	"347"	"0"	"349"	"0"	"c.347_349del"	"r.(?)"	"p.(Asn116del)"	"6"
"0000556605"	"00008683"	"30"	"11"	"0"	"11"	"0"	"c.11G>A"	"r.(?)"	"p.(Gly4Glu)"	""
"0000556606"	"00008683"	"10"	"52"	"20"	"52"	"20"	"c.52+20G>A"	"r.(=)"	"p.(=)"	""
"0000556621"	"00008683"	"90"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Ter)"	""
"0000556622"	"00008683"	"30"	"233"	"7"	"233"	"7"	"c.233+7G>T"	"r.(=)"	"p.(=)"	""
"0000556623"	"00008683"	"30"	"255"	"0"	"255"	"0"	"c.255G>A"	"r.(?)"	"p.(Pro85=)"	""
"0000556624"	"00008683"	"10"	"318"	"-18"	"318"	"-18"	"c.318-18G>A"	"r.(=)"	"p.(=)"	""
"0000556626"	"00008683"	"10"	"339"	"0"	"339"	"0"	"c.339C>T"	"r.(?)"	"p.(Ile113=)"	""
"0000556627"	"00008683"	"10"	"412"	"-17"	"412"	"-17"	"c.412-17C>T"	"r.(=)"	"p.(=)"	""
"0000556628"	"00008683"	"10"	"477"	"0"	"477"	"0"	"c.477C>T"	"r.(?)"	"p.(Tyr159=)"	""
"0000556629"	"00008683"	"50"	"502"	"0"	"502"	"0"	"c.502G>A"	"r.(?)"	"p.(Val168Ile)"	""
"0000556630"	"00008683"	"90"	"657"	"0"	"675"	"0"	"c.657_675del"	"r.(?)"	"p.(Lys220AsnfsTer34)"	""
"0000556632"	"00008683"	"30"	"812"	"0"	"812"	"0"	"c.812C>T"	"r.(?)"	"p.(Thr271Met)"	""
"0000556633"	"00008683"	"30"	"8099"	"0"	"8099"	"0"	"c.*7181C>T"	"r.(=)"	"p.(=)"	""
"0000556640"	"00008683"	"30"	"23143"	"0"	"23154"	"0"	"c.*22225_*22236dup"	"r.(=)"	"p.(=)"	""
"0000556646"	"00008683"	"30"	"52491"	"0"	"52491"	"0"	"c.*51573C>G"	"r.(=)"	"p.(=)"	""
"0000615696"	"00008683"	"30"	"-5058"	"0"	"-5058"	"0"	"c.-5058C>T"	"r.(?)"	"p.(=)"	""
"0000615697"	"00008683"	"30"	"631"	"0"	"631"	"0"	"c.631A>T"	"r.(?)"	"p.(Thr211Ser)"	""
"0000615698"	"00008683"	"30"	"5599"	"0"	"5599"	"0"	"c.*4681G>C"	"r.(=)"	"p.(=)"	""
"0000725442"	"00008683"	"30"	"41"	"0"	"41"	"0"	"c.41T>C"	"r.(?)"	"p.(Leu14Pro)"	""
"0000725443"	"00008683"	"90"	"318"	"-1"	"318"	"-1"	"c.318-1G>C"	"r.spl?"	"p.?"	""
"0000725444"	"00008683"	"50"	"799"	"0"	"799"	"0"	"c.799G>A"	"r.(?)"	"p.(Gly267Ser)"	""
"0000725445"	"00008683"	"30"	"858"	"0"	"858"	"0"	"c.858G>A"	"r.(?)"	"p.(Thr286=)"	""
"0000760023"	"00008683"	"50"	"502"	"0"	"502"	"0"	"c.502G>A"	"r.(?)"	"p.(Val168Ile)"	""
"0000786883"	"00008683"	"70"	"190"	"0"	"193"	"0"	"c.190_193dup"	"r.(?)"	"p.(Phe65SerfsTer19)"	"4"
"0000807060"	"00008683"	"30"	"11"	"0"	"11"	"0"	"c.11G>A"	"r.(?)"	"p.(Gly4Glu)"	""
"0000807061"	"00008683"	"30"	"103"	"0"	"103"	"0"	"c.103G>A"	"r.(?)"	"p.(Ala35Thr)"	""
"0000807064"	"00008683"	"50"	"295"	"0"	"295"	"0"	"c.295A>G"	"r.(?)"	"p.(Asn99Asp)"	""
"0000807065"	"00008683"	"30"	"516"	"0"	"516"	"0"	"c.516C>T"	"r.(?)"	"p.(His172=)"	""
"0000854276"	"00008683"	"30"	"74"	"0"	"74"	"0"	"c.74C>A"	"r.(?)"	"p.(Ala25Glu)"	""
"0000854278"	"00008683"	"30"	"660"	"0"	"660"	"0"	"c.660G>A"	"r.(?)"	"p.(Lys220=)"	""
"0000864295"	"00008683"	"30"	"609"	"10"	"609"	"10"	"c.609+10C>T"	"r.(=)"	"p.(=)"	""
"0000864296"	"00008683"	"30"	"741"	"5"	"741"	"5"	"c.741+5C>T"	"r.spl?"	"p.?"	""
"0000864297"	"00008683"	"30"	"814"	"0"	"814"	"0"	"c.814A>G"	"r.(?)"	"p.(Arg272Gly)"	""
"0000892526"	"00008683"	"30"	"609"	"27"	"609"	"27"	"c.609+27G>A"	"r.(=)"	"p.(=)"	""
"0000904806"	"00008683"	"70"	"887"	"0"	"887"	"0"	"c.887G>A"	"r.(?)"	"p.(Arg296Gln)"	""
"0000914461"	"00008683"	"50"	"479"	"0"	"479"	"0"	"c.479C>T"	"r.(?)"	"p.(Ala160Val)"	""
"0000914462"	"00008683"	"50"	"572"	"0"	"572"	"0"	"c.572T>C"	"r.(?)"	"p.(Val191Ala)"	""
"0000926123"	"00008683"	"30"	"-4210"	"0"	"-4210"	"0"	"c.-4210C>T"	"r.(?)"	"p.(=)"	""
"0000926124"	"00008683"	"30"	"-1855"	"0"	"-1855"	"0"	"c.-1855G>A"	"r.(?)"	"p.(=)"	""
"0000950508"	"00008683"	"30"	"183"	"0"	"183"	"0"	"c.183C>T"	"r.(?)"	"p.(=)"	""
"0000950509"	"00008683"	"30"	"684"	"0"	"684"	"0"	"c.684C>G"	"r.(?)"	"p.(=)"	""
"0000968096"	"00008683"	"90"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Ter)"	""
"0000968097"	"00008683"	"70"	"238"	"0"	"243"	"0"	"c.238_243del"	"r.(?)"	"p.(Lys80_Tyr81del)"	""
"0000981594"	"00008683"	"50"	"-28"	"0"	"-28"	"0"	"c.-28G>A"	"r.(?)"	"p.(=)"	""
"0000981600"	"00008683"	"50"	"485"	"0"	"485"	"0"	"c.485C>T"	"r.(?)"	"p.(Thr162Met)"	""
"0000981601"	"00008683"	"50"	"812"	"0"	"812"	"0"	"c.812C>T"	"r.(?)"	"p.(Thr271Met)"	""
"0000981602"	"00008683"	"50"	"887"	"0"	"887"	"0"	"c.887G>A"	"r.(?)"	"p.(Arg296Gln)"	""
"0001001886"	"00008683"	"30"	"154"	"0"	"154"	"0"	"c.154A>C"	"r.(?)"	"p.(Lys52Gln)"	""
"0001001887"	"00008683"	"30"	"161"	"0"	"161"	"0"	"c.161A>T"	"r.(?)"	"p.(Asp54Val)"	""
"0001012433"	"00008683"	"50"	"857"	"0"	"857"	"0"	"c.857C>T"	"r.(?)"	"p.(Thr286Met)"	""
"0001040771"	"00008683"	"50"	"-3965"	"0"	"-3965"	"0"	"c.-3965G>A"	"r.(?)"	"p.(=)"	""
"0001040775"	"00008683"	"50"	"317"	"4"	"317"	"4"	"c.317+4A>T"	"r.spl?"	"p.?"	""
"0001040776"	"00008683"	"50"	"343"	"0"	"343"	"0"	"c.343A>T"	"r.(?)"	"p.(Asn115Tyr)"	""
"0001040777"	"00008683"	"50"	"479"	"0"	"479"	"0"	"c.479C>A"	"r.(?)"	"p.(Ala160Glu)"	""
"0001040778"	"00008683"	"50"	"700"	"0"	"700"	"0"	"c.700C>A"	"r.(?)"	"p.(Pro234Thr)"	""
"0001040779"	"00008683"	"50"	"52478"	"0"	"52478"	"0"	"c.*51560C>A"	"r.(=)"	"p.(=)"	""
"0001055312"	"00008683"	"30"	"-1762"	"0"	"-1762"	"0"	"c.-1762C>T"	"r.(?)"	"p.(=)"	""
"0001055313"	"00008683"	"50"	"52"	"3"	"52"	"3"	"c.52+3G>C"	"r.spl?"	"p.?"	""
"0001055314"	"00008683"	"70"	"122"	"0"	"138"	"0"	"c.122_138del"	"r.(?)"	"p.(Pro41Glnfs*36)"	""
"0001055315"	"00008683"	"50"	"302"	"0"	"302"	"0"	"c.302A>G"	"r.(?)"	"p.(Tyr101Cys)"	""
"0001055316"	"00008683"	"90"	"318"	"-1"	"318"	"-1"	"c.318-1G>C"	"r.spl?"	"p.?"	""
"0001055317"	"00008683"	"50"	"500"	"0"	"500"	"0"	"c.500T>C"	"r.(?)"	"p.(Leu167Pro)"	""
"0001055318"	"00008683"	"30"	"5644"	"0"	"5644"	"0"	"c.*4726C>T"	"r.(=)"	"p.(=)"	""
"0001059664"	"00008683"	"70"	"583"	"0"	"583"	"0"	"c.583del"	"r.(?)"	"p.(Leu195TrpfsTer5)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 56
"{{screeningid}}"	"{{variantid}}"
"0000037531"	"0000064656"
"0000037532"	"0000064657"
"0000037533"	"0000064658"
"0000037534"	"0000064662"
"0000037538"	"0000064663"
"0000037539"	"0000064664"
"0000037540"	"0000064665"
"0000037541"	"0000064666"
"0000037542"	"0000064667"
"0000037543"	"0000064668"
"0000037544"	"0000064669"
"0000037545"	"0000064670"
"0000037546"	"0000064671"
"0000037547"	"0000064672"
"0000037548"	"0000064673"
"0000037549"	"0000064674"
"0000037550"	"0000064675"
"0000037551"	"0000064676"
"0000037552"	"0000064677"
"0000037553"	"0000064678"
"0000037554"	"0000064679"
"0000037555"	"0000064680"
"0000037556"	"0000064681"
"0000037557"	"0000064682"
"0000037558"	"0000064683"
"0000037976"	"0000065286"
"0000037977"	"0000065287"
"0000037978"	"0000065288"
"0000037979"	"0000065289"
"0000165958"	"0000369785"
"0000165958"	"0000369791"
"0000165959"	"0000369786"
"0000165960"	"0000369787"
"0000165961"	"0000369788"
"0000165961"	"0000369789"
"0000165962"	"0000369790"
"0000165963"	"0000369793"
"0000165964"	"0000369794"
"0000165964"	"0000369795"
"0000165979"	"0000369811"
"0000166007"	"0000369869"
"0000166007"	"0000369870"
"0000166061"	"0000369928"
"0000166062"	"0000369929"
"0000166063"	"0000369930"
"0000166064"	"0000369931"
"0000166065"	"0000369932"
"0000166066"	"0000369933"
"0000166067"	"0000369934"
"0000246180"	"0000498537"
"0000246181"	"0000498538"
"0000360200"	"0000760023"
"0000375532"	"0000786883"
"0000427446"	"0000904806"
"0000457886"	"0001012433"
"0000471516"	"0001059664"