### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GFPT1)
# 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}}"
"GFPT1" "glutamine--fructose-6-phosphate transaminase 1" "2" "p13" "unknown" "NG_029542.1" "UD_134408313668" "" "https://www.LOVD.nl/GFPT1" "" "1" "4241" "2673" "138292" "1" "1" "1" "1" "This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
" "" "g" "https://databases.lovd.nl/shared/refseq/GFPT1_NM_001244710.1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2011-07-07 00:00:00" "00006" "2018-11-11 19:32:36" "00000" "2025-02-07 18:57:27"
## 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}}"
"00008466" "GFPT1" "transcript variant 1" "002" "NM_001244710.1" "" "NP_001231639.1" "" "" "" "-183" "8520" "2100" "69614386" "69546901" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"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"
"00412" "diabetes" "diabetes" "" "" "" "" "" "00006" "2014-06-15 21:21:04" "" ""
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02956" "CMS12" "myasthenic syndrome, congenital, type 12, with tubular aggregates (CMS-12)" "AR" "610542" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32"
"05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" ""
"05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"GFPT1" "02956"
## Individuals ## Do not remove or alter this header ##
## Count = 50
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00035928" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035929" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035930" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035931" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035932" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035933" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035934" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035935" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035936" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035937" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035938" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035939" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035940" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035941" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035942" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00054674" "" "" "" "1" "" "01399" "{PMID:O\'Grady 2016:27159402}" "2-generation family, unaffected heterozygous carrier parents" "F" "" "Australia" ">13y" "0" "" "" "" ""
"00205520" "" "" "" "1" "" "00006" "{PMID:Kunika 2006:17024311}" "" "" "" "Japan" "" "0" "" "" "" ""
"00205521" "" "" "" "3" "" "00006" "{PMID:Senderek 2011:21310273}, {OMIM138292:0004}" "7-generation family, 3 affecteds (3M)" "M" "yes" "Iran" "" "0" "" "" "" ""
"00205522" "" "" "" "1" "" "00006" "{PMID:Senderek 2011:21310273}" "5-generation family, 1 affected" "F" "yes" "Senegal" "" "0" "" "" "" ""
"00205523" "" "" "" "1" "" "00006" "{PMID:Senderek 2011:21310273}" "4-generation family, 1 affected" "M" "yes" "Spain" "" "0" "" "" "" ""
"00205524" "" "" "" "2" "" "00006" "{PMID:Senderek 2011:21310273}" "2-generation family, 2 affecteds (M, F)" "" "no" "Spain" "" "0" "" "" "" ""
"00205525" "" "" "" "1" "" "00006" "{PMID:Senderek 2011:21310273}" "2-generation family, 1 affected" "F" "no" "Germany" "" "0" "" "" "" ""
"00205526" "" "" "" "3" "" "00006" "{PMID:Senderek 2011:21310273}" "2-generation family, 3 affecteds (F, 2M)" "" "no" "Spain" "" "0" "" "" "" ""
"00205527" "" "" "" "2" "" "00006" "{PMID:Rodolico 2002:12467753}" "2-generation family, 2 affecteds (F, M)" "" "no" "Italy" "" "0" "" "" "" ""
"00205528" "" "" "" "1" "" "00006" "{PMID:Senderek 2011:21310273}, {OMIM138292:0002}" "2-generation family, 1 affected" "M" "no" "Sweden" "" "0" "" "" "" ""
"00205529" "" "" "" "5" "" "00006" "{PMID:Sieb 1996:8664562}" "5-generation family, 5 affecteds (2F, 3M)" "" "yes" "Libya" "" "0" "" "" "" ""
"00205530" "" "" "" "1" "" "00006" "{PMID:Senderek 2011:21310273}, {OMIM138292:0003}" "4-generation family, 1 affected" "F" "yes" "Turkey" "" "0" "" "" "" ""
"00205531" "" "" "" "1" "" "00006" "{PMID:Senderek 2011:21310273}" "2-generation family, 1 affected" "M" "no" "Germany" "" "0" "" "" "" ""
"00205532" "" "" "" "1" "" "00006" "{PMID:Senderek 2011:21310273}" "2-generation family, 1 affected" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00205533" "" "" "" "1" "" "00006" "{PMID:Senderek 2011:21310273}" "2-generation family, 1 affected" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00205534" "" "" "" "1" "" "00006" "{PMID:Weigert 2005:15613432}" "" "" "" "Germany" "" "0" "" "" "" ""
"00205535" "" "" "" "1" "" "00006" "{PMID:Kunika 2006:17024311}" "" "" "" "Japan" "" "0" "" "" "" ""
"00205536" "" "" "" "1" "" "00006" "{PMID:Kunika 2006:17024311}" "" "" "" "Japan" "" "0" "" "" "" ""
"00205537" "" "" "" "1" "" "00006" "{PMID:Kunika 2006:17024311}" "" "" "" "" "" "0" "" "" "white" ""
"00205538" "" "" "" "1" "" "00006" "{PMID:Kunika 2006:17024311}" "" "" "" "Japan" "" "0" "" "" "" ""
"00205539" "" "" "" "1" "" "00006" "{PMID:Kunika 2006:17024311}" "" "" "" "Japan" "" "0" "" "" "" ""
"00205540" "" "" "" "1" "" "00006" "{PMID:Kunika 2006:17024311}" "" "" "" "Japan" "" "0" "" "" "" ""
"00205541" "" "" "" "1" "" "00006" "{PMID:Kunika 2006:17024311}" "" "" "" "Japan" "" "0" "" "" "" ""
"00205542" "" "" "" "1" "" "00006" "{PMID:Kunika 2006:17024311}" "" "" "" "Japan" "" "0" "" "" "" ""
"00205543" "" "" "" "1" "" "00006" "{PMID:Weigert 2005:15613432}" "" "" "" "Germany" "" "0" "" "" "" ""
"00205544" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "African American" ""
"00314324" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" ""
"00398987" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P5"
"00399007" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P33"
"00399011" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P37"
"00413032" "" "" "" "3" "" "00006" "{PMID:Mensch 2022:35694932}" "2-generation family, 3 affected (F, 2M)" "F;M" "" "Germany" "" "0" "" "" "" "FamPatII1/2/3"
"00413130" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P73/Myo149"
"00413136" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P79/Myo155"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 43
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00035928" "00198"
"00035929" "00198"
"00035930" "00198"
"00035931" "00198"
"00035934" "00198"
"00035935" "00198"
"00035937" "00198"
"00035942" "00198"
"00054674" "00360"
"00205520" "00412"
"00205521" "04312"
"00205522" "04312"
"00205523" "04312"
"00205524" "04312"
"00205525" "04312"
"00205526" "04312"
"00205527" "04312"
"00205528" "04312"
"00205529" "04312"
"00205530" "04312"
"00205531" "04312"
"00205532" "04312"
"00205533" "04312"
"00205534" "00198"
"00205535" "00412"
"00205536" "00412"
"00205537" "00412"
"00205538" "00412"
"00205539" "00412"
"00205540" "00412"
"00205541" "00412"
"00205542" "00412"
"00205543" "00198"
"00205544" "04312"
"00314324" "05126"
"00398987" "05618"
"00399007" "05618"
"00399011" "05618"
"00413032" "04312"
"00413130" "00244"
"00413136" "00244"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 00360, 00412, 01157, 02956, 04312, 05126, 05618
## Count = 42
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" ""
"0000041353" "00360" "00054674" "01399" "Familial, autosomal recessive" "13y" "congenital hypotonia, gross motor delay, mild facial weakness, contractures, scoliosis; EPS consistent with myasthenic syndrome with increased jitter on SFEMG; CPK normal; IHC alphaDG; histology dystrophic" "0d" "" "" "" "" "" "" "" "" "" ""
"0000153677" "00412" "00205520" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes, type 2" ""
"0000153678" "04312" "00205521" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153679" "04312" "00205522" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153680" "04312" "00205523" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153681" "04312" "00205524" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153682" "04312" "00205525" "00006" "Isolated (sporadic)" "" "" "" "" "" "WB substantially reduced GFPT1 levels muscle biopsy" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153683" "04312" "00205526" "00006" "Isolated (sporadic)" "" "" "" "" "" "WB substantially reduced GFPT1 levels muscle biopsy" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153684" "04312" "00205527" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153685" "04312" "00205528" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153686" "04312" "00205529" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153687" "04312" "00205530" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153688" "04312" "00205531" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153689" "04312" "00205532" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153690" "04312" "00205533" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMS-12" "myasthenia, limb-girdle, autosomal recessive (CMS)" ""
"0000153691" "00198" "00205534" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "body mass index, percent body fat" ""
"0000153692" "00412" "00205535" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes, type 2" ""
"0000153693" "00412" "00205536" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes, type 2" ""
"0000153694" "00412" "00205537" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes, type 2" ""
"0000153695" "00412" "00205538" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes, type 2" ""
"0000153696" "00412" "00205539" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes, type 2" ""
"0000153697" "00412" "00205540" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes, type 2" ""
"0000153698" "00412" "00205541" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes, type 2" ""
"0000153699" "00412" "00205542" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes, type 2" ""
"0000153700" "00198" "00205543" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "body mass index, percent body fat" ""
"0000153701" "04312" "00205544" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-12" "limb-girdle myasthenic syndrome" ""
"0000156305" "00198" "00035928" "01164" "Unknown" "" "since the ninth year of life myasthenia" "" "" "" "" "" "" "" "" "" "myasthenia" ""
"0000156306" "00198" "00035929" "01164" "Familial" "" "CMS, Ptosisrechts > links, Okulomotorik regelrecht, Gliedergürtelbetonung" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" ""
"0000156307" "00198" "00035930" "01164" "Familial" "" "CMS, Ptosisrechts > links, Okulomotorik regelrecht, Gliedergürtelbetonung" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" ""
"0000156308" "00198" "00035931" "01164" "Unknown" "" "since the ninth year of life myasthenia" "" "" "" "" "" "" "" "" "" "myasthenia" ""
"0000156309" "00198" "00035934" "01164" "Unknown" "" "since the ninth year of life myasthenia" "" "" "" "" "" "" "" "" "" "myasthenia" ""
"0000156310" "00198" "00035935" "01164" "Familial" "" "CMS, Ptosisrechts > links, Okulomotorik regelrecht, Gliedergürtelbetonung" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" ""
"0000156311" "00198" "00035937" "01164" "Familial" "" "CMS, Ptosisrechts > links, Okulomotorik regelrecht, Gliedergürtelbetonung" "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" ""
"0000156312" "00198" "00035942" "01164" "Unknown" "" "since the ninth year of life myasthenia" "" "" "" "" "" "" "" "" "" "myasthenia" ""
"0000292075" "05618" "00398987" "00006" "Unknown" "" "serum CK <200 U/L; weakness and myasthenic crises" "2y" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" ""
"0000292095" "05618" "00399007" "00006" "Unknown" "" "serum CK 112 U/L; limb-girdle muscle weakness" "9y" "" "" "" "" "" "" "" "" "neuromuscular disorder" ""
"0000292099" "05618" "00399011" "00006" "Unknown" "" "muscle biopsy vacuoles; limb-girdle muscle weakness" "14y" "" "" "" "" "" "" "" "" "neuromuscular disorder" ""
"0000305013" "04312" "00413032" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" ""
"0000305111" "00244" "00413130" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LGMDR2" "dysferlinopathy" ""
"0000305117" "00244" "00413136" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LGMDR2" "dysferlinopathy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 50
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000035998" "00035928" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000035999" "00035929" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036000" "00035930" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036001" "00035931" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036002" "00035932" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036003" "00035933" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036004" "00035934" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036005" "00035935" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036006" "00035936" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036007" "00035937" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036008" "00035938" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036009" "00035939" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036010" "00035940" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036011" "00035941" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036012" "00035942" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000054623" "00054674" "1" "01399" "01399" "2015-11-08 12:06:11" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000206549" "00205520" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000206550" "00205521" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "SEQ" "DNA" "" ""
"0000206551" "00205522" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "SEQ" "DNA" "" ""
"0000206552" "00205523" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "SEQ" "DNA" "" ""
"0000206553" "00205524" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "SEQ" "DNA" "" ""
"0000206554" "00205525" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "SEQ" "DNA" "" ""
"0000206555" "00205526" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "SEQ" "DNA" "" ""
"0000206556" "00205527" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "RT-PCR;SEQ" "RNA;DNA" "" ""
"0000206557" "00205528" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "SEQ" "DNA" "" ""
"0000206558" "00205529" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "SEQ" "DNA" "" ""
"0000206559" "00205530" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "SEQ" "DNA" "" ""
"0000206560" "00205531" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "SEQ" "DNA" "" ""
"0000206561" "00205532" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "SEQ" "DNA" "" ""
"0000206562" "00205533" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2012-03-04 15:57:39" "SEQ" "DNA" "" ""
"0000206563" "00205534" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000206564" "00205535" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000206565" "00205536" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000206566" "00205537" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000206567" "00205538" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000206568" "00205539" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000206569" "00205540" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000206570" "00205541" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000206571" "00205542" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000206572" "00205543" "1" "00006" "00006" "2011-07-29 19:51:26" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000206573" "00205544" "1" "00464" "00006" "2012-06-25 20:35:08" "" "" "PCR;SEQ" "DNA" "" ""
"0000315497" "00314324" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000400232" "00398987" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel"
"0000400252" "00399007" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel"
"0000400256" "00399011" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel"
"0000414303" "00413032" "1" "00006" "00006" "2022-07-07 16:14:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000414400" "00413130" "1" "00006" "00006" "2022-07-11 16:33:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000414406" "00413136" "1" "00006" "00006" "2022-07-11 16:33:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 42
"{{screeningid}}" "{{geneid}}"
"0000035998" "GFPT1"
"0000035999" "GFPT1"
"0000036000" "GFPT1"
"0000036001" "GFPT1"
"0000036002" "GFPT1"
"0000036003" "GFPT1"
"0000036004" "GFPT1"
"0000036005" "GFPT1"
"0000036006" "GFPT1"
"0000036007" "GFPT1"
"0000036008" "GFPT1"
"0000036009" "GFPT1"
"0000036010" "GFPT1"
"0000036011" "GFPT1"
"0000036012" "GFPT1"
"0000054623" "GFPT1"
"0000206549" "GFPT1"
"0000206550" "GFPT1"
"0000206551" "GFPT1"
"0000206552" "GFPT1"
"0000206553" "GFPT1"
"0000206554" "GFPT1"
"0000206555" "GFPT1"
"0000206556" "GFPT1"
"0000206557" "GFPT1"
"0000206558" "GFPT1"
"0000206559" "GFPT1"
"0000206560" "GFPT1"
"0000206561" "GFPT1"
"0000206562" "GFPT1"
"0000206563" "GFPT1"
"0000206564" "GFPT1"
"0000206565" "GFPT1"
"0000206566" "GFPT1"
"0000206567" "GFPT1"
"0000206568" "GFPT1"
"0000206569" "GFPT1"
"0000206570" "GFPT1"
"0000206571" "GFPT1"
"0000206572" "GFPT1"
"0000206573" "GFPT1"
"0000315497" "GFPT1"
## 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 = 109
"{{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}}"
"0000002290" "0" "50" "2" "69558878" "69558881" "del" "0" "00037" "GFPT1_000043" "g.69558878_69558881del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.69331746_69331749del" "" "VUS" ""
"0000003679" "0" "50" "2" "69558841" "69558841" "subst" "0" "00037" "GFPT1_000044" "g.69558841A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.69331709A>C" "" "VUS" ""
"0000011644" "3" "50" "2" "69558723" "69558723" "subst" "0" "00037" "GFPT1_000045" "g.69558723A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.69331591A>G" "" "VUS" ""
"0000011645" "3" "50" "2" "69558841" "69558841" "subst" "0" "00037" "GFPT1_000044" "g.69558841A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.69331709A>C" "" "VUS" ""
"0000063123" "1" "10" "2" "69597209" "69597209" "subst" "0.0162755" "01164" "GFPT1_000030" "g.69597209A>G" "" "" "" "" "" "Germline" "" "rs75562034" "0" "" "" "g.69370077A>G" "" "benign" ""
"0000063124" "1" "10" "2" "69565567" "69565567" "del" "0" "01164" "GFPT1_000034" "g.69565567del" "" "" "" "" "" "Germline" "" "rs113734896" "0" "" "" "g.69338435del" "" "benign" ""
"0000063125" "1" "10" "2" "69573029" "69573029" "subst" "0.586452" "01164" "GFPT1_000035" "g.69573029T>C" "" "" "" "" "" "Germline" "" "rs6722492" "0" "" "" "g.69345897T>C" "" "benign" ""
"0000063126" "1" "50" "2" "69600994" "69600994" "subst" "0" "01164" "GFPT1_000031" "g.69600994T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.69373862T>C" "" "VUS" ""
"0000063127" "1" "50" "2" "69556451" "69556451" "subst" "4.06253E-6" "01164" "GFPT1_000038" "g.69556451G>A" "" "" "" "" "PolyPhen-2: poss.damaging (PSIC: 0,54 )/ SIFT:deleterious" "Germline" "" "" "0" "" "" "g.69329319G>A" "" "VUS" ""
"0000063128" "1" "10" "2" "69586370" "69586370" "subst" "0.370978" "01164" "GFPT1_000021" "g.69586370A>G" "" "" "" "" "" "Germline" "" "rs67760762" "0" "" "" "g.69359238A>G" "" "benign" ""
"0000063129" "1" "50" "2" "69583553" "69583553" "subst" "0" "01164" "GFPT1_000037" "g.69583553T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.69356421T>C" "" "VUS" ""
"0000063130" "1" "10" "2" "69614161" "69614161" "subst" "0.574831" "01164" "GFPT1_000020" "g.69614161A>G" "" "" "" "" "" "Germline" "" "rs672041" "0" "" "" "g.69387029A>G" "" "benign" ""
"0000063131" "1" "90" "2" "69581371" "69581371" "dup" "0" "01164" "GFPT1_000036" "g.69581371dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.69354239dup" "" "pathogenic" ""
"0000063132" "1" "10" "2" "69586293" "69586293" "subst" "0" "01164" "GFPT1_000022" "g.69586293A>C" "" "" "" "" "" "Germline" "" "rs6546505" "0" "" "" "g.69359161A>C" "" "benign" ""
"0000063133" "1" "50" "2" "69614136" "69614136" "subst" "0" "01164" "GFPT1_000032" "g.69614136G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.69387004G>T" "" "VUS" ""
"0000063134" "1" "90" "2" "69556887" "69556887" "subst" "0" "01164" "GFPT1_000039" "g.69556887A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.69329755A>G" "" "pathogenic" ""
"0000063135" "1" "50" "2" "69553299" "69553299" "subst" "0.00136394" "01164" "GFPT1_000005" "g.69553299G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.69326167G>T" "" "VUS" ""
"0000063136" "1" "10" "2" "69565345" "69565345" "subst" "0" "01164" "GFPT1_000033" "g.69565345T>C" "" "" "" "" "" "Germline" "" "rs10164798" "0" "" "" "g.69338213T>C" "" "benign" ""
"0000063137" "1" "50" "2" "69547037" "69547037" "subst" "0" "01164" "GFPT1_000040" "g.69547037C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.69319905C>T" "" "VUS" ""
"0000084573" "1" "90" "2" "69581446" "69581446" "subst" "2.30729E-5" "01399" "GFPT1_000041" "g.69581446T>C" "" "{PMID:O\'Grady 2016:27159402}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69354314T>C" "" "pathogenic" ""
"0000084615" "2" "90" "2" "69573069" "69573069" "subst" "4.06461E-6" "01399" "GFPT1_000042" "g.69573069T>C" "" "{PMID:O\'Grady 2016:27159402}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69345937T>C" "" "pathogenic" ""
"0000251294" "0" "30" "2" "69553388" "69553388" "del" "0" "02326" "GFPT1_000047" "g.69553388del" "" "" "" "GFPT1(NM_001244710.1):c.2056-11del (p.(=)), GFPT1(NM_001244710.1):c.2056-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69326256del" "" "likely benign" ""
"0000252071" "0" "30" "2" "69565564" "69565564" "subst" "4.08383E-6" "02326" "GFPT1_000052" "g.69565564A>T" "" "" "" "GFPT1(NM_001244710.1):c.1324+13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69338432A>T" "" "likely benign" ""
"0000281031" "0" "10" "2" "69573029" "69573029" "subst" "0.586452" "02325" "GFPT1_000035" "g.69573029T>C" "" "" "" "GFPT1(NM_001244710.2):c.1105+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69345897T>C" "" "benign" ""
"0000284637" "0" "30" "2" "69553387" "69553388" "del" "0" "02326" "GFPT1_000048" "g.69553387_69553388del" "" "" "" "GFPT1(NM_001244710.1):c.2056-12_2056-11del (p.(=)), GFPT1(NM_001244710.1):c.2056-12_2056-11delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69326255_69326256del" "" "likely benign" ""
"0000327045" "0" "30" "2" "69553375" "69553375" "subst" "0" "01804" "GFPT1_000046" "g.69553375G>A" "" "" "" "GFPT1(NM_001244710.1):c.2056-10C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69326243G>A" "" "likely benign" ""
"0000327046" "0" "30" "2" "69553388" "69553388" "del" "0" "01804" "GFPT1_000047" "g.69553388del" "" "" "" "GFPT1(NM_001244710.1):c.2056-11del (p.(=)), GFPT1(NM_001244710.1):c.2056-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69326256del" "" "likely benign" ""
"0000327047" "0" "30" "2" "69553387" "69553388" "del" "0" "01804" "GFPT1_000048" "g.69553387_69553388del" "" "" "" "GFPT1(NM_001244710.1):c.2056-12_2056-11del (p.(=)), GFPT1(NM_001244710.1):c.2056-12_2056-11delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69326255_69326256del" "" "likely benign" ""
"0000327050" "0" "30" "2" "69597209" "69597209" "subst" "0.0162755" "01804" "GFPT1_000030" "g.69597209A>G" "" "" "" "GFPT1(NM_001244710.1):c.147T>C (p.(Asp49=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69370077A>G" "" "likely benign" ""
"0000341954" "0" "50" "2" "69601212" "69601212" "subst" "0" "02327" "GFPT1_000053" "g.69601212C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69374080C>T" "" "VUS" ""
"0000436156" "0" "10" "2" "69554110" "69554110" "subst" "0" "00006" "GFPT1_000000" "g.69554110A>G" "" "{PMID:Kunika 2006:17024311}" "" "IVS18+658T repeat" "Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000436157" "11" "90" "2" "69573099" "69573099" "subst" "0" "00006" "GFPT1_000001" "g.69573099C>A" "" "{PMID:Senderek 2011:21310273}, {OMIM138292:0004}" "" "" "not in 884 control chromosomes; seggregating\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000436158" "21" "90" "2" "69573099" "69573099" "subst" "0" "00006" "GFPT1_000001" "g.69573099C>A" "" "{PMID:Senderek 2011:21310273}, {OMIM138292:0004}" "" "" "not in 884 control chromosomes; seggregating\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000436159" "11" "90" "2" "69556879" "69556879" "subst" "0" "00006" "GFPT1_000002" "g.69556879G>A" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 460 control chromosomes; seggregating\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000436160" "21" "90" "2" "69556879" "69556879" "subst" "0" "00006" "GFPT1_000002" "g.69556879G>A" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 460 control chromosomes; seggregating\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000436161" "11" "90" "2" "69565040" "69565040" "subst" "0" "00006" "GFPT1_000003" "g.69565040A>G" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 1076 control chromosomes; seggregating\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000436162" "21" "90" "2" "69565040" "69565040" "subst" "0" "00006" "GFPT1_000003" "g.69565040A>G" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 1076 control chromosomes; seggregating\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000436163" "1" "90" "2" "69565621" "69565624" "dup" "0" "00006" "GFPT1_000004" "g.69565621_69565624dup" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 280 control chromosomes; seggregating" "Germline" "" "" "0" "" "" "g.69338489_69338492dup" "" "pathogenic" ""
"0000436164" "2" "90" "2" "69553299" "69553299" "subst" "0.00136394" "00006" "GFPT1_000005" "g.69553299G>T" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 1270 control chromosomes; seggregating; RNA expression not reduced, possibly affects translation efficiency" "Germline" "" "" "0" "" "" "g.69326167G>T" "" "pathogenic" ""
"0000436165" "2" "90" "2" "69553299" "69553299" "subst" "0.00136394" "00006" "GFPT1_000005" "g.69553299G>T" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 1270 control chromosomes; seggregating; RNA expression not reduced, possibly affects translation efficiency" "Germline" "" "" "0" "" "" "g.69326167G>T" "" "pathogenic" ""
"0000436166" "1" "90" "2" "69553299" "69553299" "subst" "0.00136394" "00006" "GFPT1_000005" "g.69553299G>T" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 1270 control chromosomes; seggregating; RNA expression not reduced, possibly affects translation efficiency" "Germline" "" "" "0" "" "" "g.69326167G>T" "" "pathogenic" ""
"0000436167" "1" "90" "2" "69601210" "69601210" "subst" "0" "00006" "GFPT1_000006" "g.69601210T>C" "" "{PMID:Senderek 2011:21310273}, {OMIM138292:0005}" "" "" "not in 886 control chromosomes" "Germline" "" "" "0" "" "" "g.69374078T>C" "" "pathogenic" ""
"0000436168" "2" "90" "2" "69581685" "69581686" "del" "0" "00006" "GFPT1_000007" "g.69581685_69581686del" "" "{PMID:Senderek 2011:21310273}, {OMIM138292:0006}" "" "" "not in 206 control chromosomes" "Germline" "" "" "0" "" "" "g.69354553_69354554del" "" "pathogenic" ""
"0000436169" "1" "90" "2" "69590802" "69590802" "dup" "0" "00006" "GFPT1_000008" "g.69590802dup" "" "{PMID:Senderek 2011:21310273}, {OMIM138292:0002}" "" "222_223insA" "incorrect numbering (see FigS4); not in 234 control chromosomes; seggregating" "Germline" "" "" "0" "" "" "g.69363670dup" "" "pathogenic" ""
"0000436170" "2" "90" "2" "69590695" "69590695" "subst" "0.000138101" "00006" "GFPT1_000009" "g.69590695G>A" "" "{PMID:Senderek 2011:21310273}, {OMIM138292:0001}" "" "" "not in 480 control chromosomes; seggregating" "Germline" "" "" "0" "" "" "g.69363563G>A" "" "pathogenic" ""
"0000436171" "11" "90" "2" "69590695" "69590695" "subst" "0.000138101" "00006" "GFPT1_000009" "g.69590695G>A" "" "{PMID:Senderek 2011:21310273}, {OMIM138292:0001}" "" "" "homozygosity mapping LOD score 3.24; not in 480 control chromosomes; seggregating" "Germline" "" "" "0" "" "" "g.69363563G>A" "" "pathogenic" ""
"0000436172" "21" "90" "2" "69590695" "69590695" "subst" "0.000138101" "00006" "GFPT1_000009" "g.69590695G>A" "" "{PMID:Senderek 2011:21310273}, {OMIM138292:0001}" "" "" "homozygosity mapping LOD score 3.24; not in 480 control chromosomes; seggregating" "Germline" "" "" "0" "" "" "g.69363563G>A" "" "pathogenic" ""
"0000436173" "11" "90" "2" "69581411" "69581411" "subst" "0" "00006" "GFPT1_000010" "g.69581411C>T" "" "{PMID:Senderek 2011:21310273}, {OMIM138292:0003}" "" "c.719G>A (Trp240*)" "not in 414 control chromosomes; seggregating\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000436174" "21" "90" "2" "69581411" "69581411" "subst" "0" "00006" "GFPT1_000010" "g.69581411C>T" "" "{PMID:Senderek 2011:21310273}, {OMIM138292:0003}" "" "c.719G>A (Trp240*)" "not in 414 control chromosomes; seggregating\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000436175" "1" "90" "2" "69565037" "69565037" "subst" "0" "00006" "GFPT1_000011" "g.69565037A>G" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 822 control chromosomes; seggregating\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000436176" "1" "90" "2" "69597228" "69597228" "subst" "0" "00006" "GFPT1_000012" "g.69597228T>A" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 446 control chromosomes; seggregating" "Germline" "" "" "0" "" "" "g.69370096T>A" "" "pathogenic" ""
"0000436177" "2" "90" "2" "69586446" "69586446" "subst" "4.06861E-5" "00006" "GFPT1_000013" "g.69586446A>G" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 864 control chromosomes; seggregating" "Germline" "" "" "0" "" "" "g.69359314A>G" "" "pathogenic" ""
"0000436178" "1" "90" "2" "69569333" "69569333" "subst" "0" "00006" "GFPT1_000014" "g.69569333C>T" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 874 control chromosomes; seggregating" "Germline" "" "" "0" "" "" "g.69342201C>T" "" "pathogenic" ""
"0000436179" "2" "90" "2" "69565600" "69565600" "subst" "0" "00006" "GFPT1_000015" "g.69565600C>T" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 852 control chromosomes; seggregating\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000436180" "1" "90" "2" "69601209" "69601209" "subst" "1.21935E-5" "00006" "GFPT1_000016" "g.69601209G>A" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 812 control chromosomes; seggregating" "Germline" "" "" "0" "" "" "g.69374077G>A" "" "pathogenic" ""
"0000436181" "2" "90" "2" "69556927" "69556927" "subst" "0" "00006" "GFPT1_000017" "g.69556927G>A" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 442 control chromosomes; seggregating\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000436182" "1" "90" "2" "69583638" "69583638" "subst" "4.06164E-6" "00006" "GFPT1_000018" "g.69583638C>A" "" "{PMID:Senderek 2011:21310273}" "" "" "not in 850 control chromosomes" "Germline" "" "" "0" "" "" "g.69356506C>A" "" "pathogenic" ""
"0000436183" "0" "90" "2" "69615295" "69615295" "subst" "0" "00006" "GFPT1_000019" "g.69615295C>T" "0.58" "{PMID:Weigert 2005:15613432}" "" "-913G>A" "homo- and heterozygotes; significantly higher body mass index/percent body fat in men (not women)" "Germline" "" "" "0" "" "" "g.69388163C>T" "" "pathogenic" ""
"0000436184" "0" "10" "2" "69615295" "69615295" "subst" "0" "00006" "GFPT1_000019" "g.69615295C>T" "0.44" "{PMID:Kunika 2006:17024311}" "" "-913G>A" "homo- and heterozygotes" "Germline" "" "" "0" "" "" "g.69388163C>T" "" "benign" ""
"0000436185" "0" "10" "2" "69614161" "69614161" "subst" "0.574831" "00006" "GFPT1_000020" "g.69614161A>G" "0.45" "{PMID:Kunika 2006:17024311}" "" "IVS1+36T>C" "homo- and heterozygotes; no type 2 diabetes association (1461 controls/ 1302 cases)" "Germline" "" "rs6720415" "0" "" "" "g.69387029A>G" "" "benign" ""
"0000436186" "0" "70" "2" "69614161" "69614161" "subst" "0.574831" "00006" "GFPT1_000020" "g.69614161A>G" "0.62" "{PMID:Kunika 2006:17024311}" "" "IVS1+36T>C" "homo- and heterozygotes; possible type 2 diabetes association (190 controls/ 140 cases)" "Germline" "" "rs6720415" "0" "" "" "g.69387029A>G" "" "likely pathogenic" ""
"0000436187" "0" "10" "2" "69586370" "69586370" "subst" "0.370978" "00006" "GFPT1_000021" "g.69586370A>G" "0.17" "{PMID:Kunika 2006:17024311}" "" "IVS5+30T>C" "homo- and heterozygotes; no type 2 diabetes association (1461 controls/ 1302 cases)" "Germline" "" "" "0" "" "" "g.69359238A>G" "" "benign" ""
"0000436188" "0" "10" "2" "69586293" "69586293" "subst" "0" "00006" "GFPT1_000022" "g.69586293A>C" "0.44" "{PMID:Kunika 2006:17024311}" "" "IVS5+108T>G" "homo- and heterozygotes; no type 2 diabetes association (1461 controls/ 1302 cases)" "Germline" "" "rs6546505" "0" "" "" "g.69359161A>C" "" "benign" ""
"0000436189" "0" "10" "2" "69581631" "69581631" "subst" "0.0280272" "00006" "GFPT1_000023" "g.69581631G>A" "0.18" "{PMID:Kunika 2006:17024311}" "" "+70C>T (L255L)" "homo- and heterozygotes; no type 2 diabetes association (1461 controls/ 1302 cases)" "Germline" "" "" "0" "" "" "g.69354499G>A" "" "benign" ""
"0000436190" "0" "10" "2" "69573083" "69573083" "subst" "0" "00006" "GFPT1_000024" "g.69573083T>C" "0.44" "{PMID:Kunika 2006:17024311}" "" "IVS11+7A>G" "homo- and heterozygotes; no type 2 diabetes association (1461 controls/ 1302 cases)\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs6722492" "0" "" "" "" "" "benign" ""
"0000436191" "0" "10" "2" "69552521" "69552521" "subst" "0" "00006" "GFPT1_000025" "g.69552521C>A" "0.44" "{PMID:Kunika 2006:17024311}" "" "+845G>T" "homo- and heterozygotes; no type 2 diabetes association (1461 controls/ 1302 cases)" "Germline" "" "rs2667" "0" "" "" "g.69325389C>A" "" "benign" ""
"0000436192" "0" "10" "2" "69615794" "69615794" "subst" "0" "00006" "GFPT1_000027" "g.69615794G>C" "0.16" "{PMID:Weigert 2005:15613432}" "" "-1412C>G" "homo- and heterozygotes; no association" "Germline" "" "rs67340771" "0" "" "" "g.69388662G>C" "" "benign" ""
"0000436193" "0" "50" "2" "69597240" "69597240" "subst" "0" "00464" "GFPT1_000028" "g.69597240C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.69370108C>A" "" "VUS" ""
"0000436194" "0" "50" "2" "69590790" "69590790" "subst" "2.84398E-5" "00464" "GFPT1_000029" "g.69590790A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.69363658A>G" "" "VUS" ""
"0000436195" "0" "30" "2" "69573099" "69573099" "subst" "0" "00006" "GFPT1_000001" "g.69573099C>A" "" "{PMID:Senderek 2011:21310273}" "" "" "expression cloning small effect enzymatic activity, normal protein localisation\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" ""
"0000436196" "0" "30" "2" "69601210" "69601210" "subst" "0" "00006" "GFPT1_000006" "g.69601210T>C" "" "{PMID:Senderek 2011:21310273}" "" "" "expression cloning small effect enzymatic activity, normal protein localisation" "In vitro (cloned)" "" "" "0" "" "" "g.69374078T>C" "" "NA" ""
"0000436197" "0" "30" "2" "69590695" "69590695" "subst" "0.000138101" "00006" "GFPT1_000009" "g.69590695G>A" "" "{PMID:Senderek 2011:21310273}" "" "" "expression cloning no effect enzymatic activity, normal protein localisation" "In vitro (cloned)" "" "" "0" "" "" "g.69363563G>A" "" "NA" ""
"0000436198" "0" "30" "2" "69565037" "69565037" "subst" "0" "00006" "GFPT1_000011" "g.69565037A>G" "" "{PMID:Senderek 2011:21310273}" "" "" "normal protein localisation\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" ""
"0000436199" "0" "30" "2" "69597228" "69597228" "subst" "0" "00006" "GFPT1_000012" "g.69597228T>A" "" "{PMID:Senderek 2011:21310273}" "" "" "expression cloning small effect enzymatic activity, normal protein localisation" "In vitro (cloned)" "" "" "0" "" "" "g.69370096T>A" "" "NA" ""
"0000436200" "0" "30" "2" "69586446" "69586446" "subst" "4.06861E-5" "00006" "GFPT1_000013" "g.69586446A>G" "" "{PMID:Senderek 2011:21310273}" "" "" "normal protein localisation" "In vitro (cloned)" "" "" "0" "" "" "g.69359314A>G" "" "NA" ""
"0000436201" "0" "30" "2" "69565600" "69565600" "subst" "0" "00006" "GFPT1_000015" "g.69565600C>T" "" "{PMID:Senderek 2011:21310273}" "" "" "expression cloning no effect enzymatic activity, normal protein localisation\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" ""
"0000436202" "0" "10" "2" "69615295" "69615295" "subst" "0" "00006" "GFPT1_000019" "g.69615295C>T" "" "{PMID:Kunika 2006:17024311}" "" "-913G>A" "expression cloning, no effect on promoter activity" "In vitro (cloned)" "" "" "0" "" "" "g.69388163C>T" "" "NA" ""
"0000436203" "0" "70" "2" "69614161" "69614161" "subst" "0.574831" "00006" "GFPT1_000020" "g.69614161A>G" "" "{PMID:Kunika 2006:17024311}" "" "IVS1+36T>C" "expression cloning, significant positive effect on promoter activity (3 cell types)" "In vitro (cloned)" "" "rs6720415" "0" "" "" "g.69387029A>G" "" "NA" ""
"0000436204" "0" "50" "2" "69615232" "69615232" "subst" "0" "00006" "GFPT1_000026" "g.69615232C>T" "" "" "" "" "Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs6546511" "0" "" "" "" "" "VUS" ""
"0000436205" "0" "90" "2" "69615794" "69615794" "subst" "0" "00006" "GFPT1_000027" "g.69615794G>C" "" "{PMID:Burt 2005:15878746}" "" "-1412C>G" "functional reduced promoter activity; EMSA binding nuclear proteins" "In vitro (cloned)" "" "rs67340771" "0" "" "" "g.69388662G>C" "" "NA" ""
"0000516599" "0" "30" "2" "69553369" "69553369" "subst" "0" "01804" "GFPT1_000054" "g.69553369C>A" "" "" "" "GFPT1(NM_001244710.1):c.2056-4G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69326237C>A" "" "likely benign" ""
"0000516600" "0" "30" "2" "69581414" "69581414" "subst" "0.000132308" "01804" "GFPT1_000055" "g.69581414C>T" "" "" "" "GFPT1(NM_001244710.1):c.716G>A (p.(Arg239Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69354282C>T" "" "likely benign" ""
"0000516602" "0" "30" "2" "69586393" "69586393" "subst" "0.00293178" "01804" "GFPT1_000057" "g.69586393T>A" "" "" "" "GFPT1(NM_001244710.1):c.408+7A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69359261T>A" "" "likely benign" ""
"0000676700" "0" "30" "2" "69553388" "69553388" "dup" "0" "01804" "GFPT1_000060" "g.69553388dup" "" "" "" "GFPT1(NM_001244710.1):c.2056-12dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000676701" "0" "30" "2" "69597146" "69597146" "subst" "0" "01943" "GFPT1_000061" "g.69597146A>T" "" "" "" "GFPT1(NM_001244710.1):c.210T>A (p.D70E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000697586" "0" "70" "2" "69581446" "69581446" "subst" "2.30729E-5" "00006" "GFPT1_000041" "g.69581446T>C" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.69354314T>C" "" "likely pathogenic" ""
"0000718929" "0" "70" "2" "69553299" "69553299" "subst" "0.00136394" "02329" "GFPT1_000005" "g.69553299G>T" "" "" "" "GFPT1(NM_001244710.1):c.*22C>A (p.(=)), GFPT1(NM_001244710.2):c.*22C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000718930" "0" "70" "2" "69581708" "69581708" "subst" "0" "02329" "GFPT1_000059" "g.69581708T>C" "" "" "" "GFPT1(NM_001244710.1):c.606-8A>G (p.(=)), GFPT1(NM_001244710.2):c.606-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000718931" "0" "30" "2" "69583698" "69583698" "subst" "0" "01943" "GFPT1_000062" "g.69583698G>A" "" "" "" "GFPT1(NM_001244710.1):c.544-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000718932" "0" "70" "2" "69586446" "69586446" "subst" "4.06861E-5" "02329" "GFPT1_000013" "g.69586446A>G" "" "" "" "GFPT1(NM_001244710.2):c.362T>C (p.I121T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000718933" "0" "70" "2" "69590773" "69590773" "subst" "0" "02329" "GFPT1_000063" "g.69590773A>C" "" "" "" "GFPT1(NM_001244710.2):c.253T>G (p.F85V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000800767" "0" "30" "2" "69569344" "69569344" "subst" "1.62713E-5" "01943" "GFPT1_000064" "g.69569344G>A" "" "" "" "GFPT1(NM_001244710.1):c.1143C>T (p.I381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000833039" "1" "70" "2" "69556912" "69556912" "subst" "4.06306E-6" "00006" "GFPT1_000065" "g.69556912C>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.69329780C>T" "" "likely pathogenic" ""
"0000833059" "3" "70" "2" "69601209" "69601209" "subst" "1.21935E-5" "00006" "GFPT1_000016" "g.69601209G>A" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.69374077G>A" "" "likely pathogenic" ""
"0000833063" "1" "70" "2" "69581446" "69581446" "subst" "2.30729E-5" "00006" "GFPT1_000041" "g.69581446T>C" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.69354314T>C" "" "likely pathogenic" ""
"0000849985" "0" "30" "2" "69597128" "69597128" "subst" "0.00102377" "01943" "GFPT1_000068" "g.69597128G>A" "" "" "" "GFPT1(NM_001244710.1):c.223+5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000858635" "0" "70" "2" "69553299" "69553299" "subst" "0.00136394" "01804" "GFPT1_000005" "g.69553299G>T" "" "" "" "GFPT1(NM_001244710.1):c.*22C>A (p.(=)), GFPT1(NM_001244710.2):c.*22C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000858636" "0" "70" "2" "69581393" "69581394" "del" "0" "01804" "GFPT1_000066" "g.69581393_69581394del" "" "" "" "GFPT1(NM_001244710.1):c.738_739del (p.(Gly247GlnfsTer33))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000858637" "0" "30" "2" "69581631" "69581631" "subst" "0.0280272" "01804" "GFPT1_000023" "g.69581631G>A" "" "" "" "GFPT1(NM_001244710.1):c.675C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000858638" "0" "70" "2" "69581708" "69581708" "subst" "0" "01804" "GFPT1_000059" "g.69581708T>C" "" "" "" "GFPT1(NM_001244710.1):c.606-8A>G (p.(=)), GFPT1(NM_001244710.2):c.606-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000858639" "0" "30" "2" "69590812" "69590812" "subst" "0.000252283" "01804" "GFPT1_000067" "g.69590812A>G" "" "" "" "GFPT1(NM_001244710.1):c.224-10T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000871938" "21" "90" "2" "69601212" "69601212" "subst" "0" "00006" "GFPT1_000053" "g.69601212C>T" "" "{PMID:Mensch 2022:35694932}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000871939" "11" "90" "2" "69565635" "69565638" "del" "0" "00006" "GFPT1_000069" "g.69565635_69565638del" "" "{PMID:Mensch 2022:35694932}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69338503_69338506del" "" "pathogenic (recessive)" ""
"0000872072" "0" "90" "2" "69581446" "69581446" "subst" "2.30729E-5" "00006" "GFPT1_000041" "g.69581446T>C" "" "{PMID:Cerino 2022:35741838}" "" "" "ACMG PSV1, PS4_mod, PM2" "Germline" "" "" "0" "" "" "g.69354314T>C" "" "pathogenic" "ACMG"
"0000872075" "0" "90" "2" "69581446" "69581446" "subst" "2.30729E-5" "00006" "GFPT1_000041" "g.69581446T>C" "" "{PMID:Cerino 2022:35741838}" "" "" "ACMG PSV1, PS4_mod, PM2" "Germline" "" "" "0" "" "" "g.69354314T>C" "" "pathogenic" "ACMG"
"0000885355" "0" "50" "2" "69565136" "69565136" "subst" "0" "02327" "GFPT1_000070" "g.69565136G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000962262" "0" "30" "2" "69586381" "69586381" "subst" "0.000292797" "02326" "GFPT1_000071" "g.69586381T>C" "" "" "" "GFPT1(NM_001244710.1):c.408+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001013781" "0" "30" "2" "69597128" "69597128" "subst" "0.00102377" "01804" "GFPT1_000068" "g.69597128G>A" "" "" "" "GFPT1(NM_001244710.1):c.223+5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001024668" "0" "50" "2" "69556797" "69556797" "subst" "0" "01804" "GFPT1_000072" "g.69556797T>C" "" "" "" "GFPT1(NM_001244710.1):c.1597+19A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes GFPT1
## Count = 109
"{{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}}"
"0000002290" "00008466" "00" "1483" "-1950" "1483" "-1947" "c.1483-1950_1483-1947del" "r.(=)" "p.(=)" ""
"0000003679" "00008466" "00" "1483" "-1911" "1483" "-1911" "c.1483-1911T>G" "r.(=)" "p.(=)" ""
"0000011644" "00008466" "00" "1483" "-1793" "1483" "-1793" "c.1483-1793T>C" "r.(=)" "p.(=)" ""
"0000011645" "00008466" "00" "1483" "-1911" "1483" "-1911" "c.1483-1911T>G" "r.(=)" "p.(=)" ""
"0000063123" "00008466" "00" "147" "0" "147" "0" "c.147T>C" "r.(=)" "p.(=)" ""
"0000063124" "00008466" "00" "1324" "13" "1324" "13" "c.1324+13del" "r.(=)" "p.(=)" ""
"0000063125" "00008466" "00" "1105" "7" "1105" "7" "c.1105+7A>G" "r.(=)" "p.(=)" ""
"0000063126" "00008466" "00" "115" "144" "115" "144" "c.115+144A>G" "r.(=)" "p.(=)" ""
"0000063127" "00008466" "00" "1703" "0" "1703" "0" "c.1703C>T" "r.(?)" "p.(Ala568Val)" ""
"0000063128" "00008466" "00" "408" "30" "408" "30" "c.408+30T>C" "r.(=)" "p.(=)" ""
"0000063129" "00008466" "00" "605" "75" "605" "75" "c.605+75A>G" "r.(=)" "p.(=)" ""
"0000063130" "00008466" "00" "7" "36" "7" "36" "c.7+36T>C" "r.(=)" "p.(=)" ""
"0000063131" "00008466" "00" "739" "20" "739" "20" "c.739+20dup" "r.(=)" "p.(=)" ""
"0000063132" "00008466" "00" "408" "107" "408" "107" "c.408+107T>G" "r.(=)" "p.(=)" ""
"0000063133" "00008466" "00" "7" "61" "7" "61" "c.7+61C>A" "r.(=)" "p.(=)" ""
"0000063134" "00008466" "00" "1526" "0" "1526" "0" "c.1526T>C" "r.(?)" "p.(Met509Thr)" ""
"0000063135" "00008466" "00" "2122" "0" "2122" "0" "c.*22C>A" "r.(=)" "p.(=)" ""
"0000063136" "00008466" "00" "1325" "-158" "1325" "-158" "c.1325-158A>G" "r.(=)" "p.(=)" ""
"0000063137" "00008466" "00" "8384" "0" "8384" "0" "c.*6284G>A" "r.(=)" "p.(=)" ""
"0000084573" "00008466" "90" "686" "-2" "686" "-2" "c.686-2A>G" "r.spl" "p.?" "8i"
"0000084615" "00008466" "90" "1072" "0" "1072" "0" "c.1072A>G" "r.(?)" "p.(Met358Val)" "12"
"0000251294" "00008466" "30" "2056" "-11" "2056" "-11" "c.2056-11del" "r.(=)" "p.(=)" ""
"0000252071" "00008466" "30" "1324" "13" "1324" "13" "c.1324+13T>A" "r.(=)" "p.(=)" ""
"0000281031" "00008466" "10" "1105" "7" "1105" "7" "c.1105+7A>G" "r.(=)" "p.(=)" ""
"0000284637" "00008466" "30" "2056" "-12" "2056" "-11" "c.2056-12_2056-11del" "r.(=)" "p.(=)" ""
"0000327045" "00008466" "30" "2056" "-10" "2056" "-10" "c.2056-10C>T" "r.(=)" "p.(=)" ""
"0000327046" "00008466" "30" "2056" "-11" "2056" "-11" "c.2056-11del" "r.(=)" "p.(=)" ""
"0000327047" "00008466" "30" "2056" "-12" "2056" "-11" "c.2056-12_2056-11del" "r.(=)" "p.(=)" ""
"0000327050" "00008466" "30" "147" "0" "147" "0" "c.147T>C" "r.(?)" "p.(Asp49=)" ""
"0000341954" "00008466" "50" "41" "0" "41" "0" "c.41G>A" "r.(?)" "p.(Arg14Gln)" ""
"0000436156" "00008466" "10" "2002" "-11" "2002" "-11" "c.(2002-11T>C)" "r.(=)" "p.(=)" "18i"
"0000436157" "00008466" "90" "1042" "0" "1042" "0" "c.1042G>T" "r.(?)" "p.(Asp348Tyr)" "11"
"0000436158" "00008466" "90" "1042" "0" "1042" "0" "c.1042G>T" "r.(?)" "p.(Asp348Tyr)" "11"
"0000436159" "00008466" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Trp)" "15"
"0000436160" "00008466" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Trp)" "15"
"0000436161" "00008466" "90" "1472" "0" "1472" "0" "c.1472T>C" "r.(?)" "p.(Met491Thr)" "15"
"0000436162" "00008466" "90" "1472" "0" "1472" "0" "c.1472T>C" "r.(?)" "p.(Met491Thr)" "15"
"0000436163" "00008466" "90" "1279" "0" "1282" "0" "c.1279_1282dup" "r.(?)" "p.(Pro428HisfsTer7)" "14"
"0000436164" "00008466" "90" "2122" "0" "2122" "0" "c.*22C>A" "r.*22c>a" "p.=" "19"
"0000436165" "00008466" "90" "2122" "0" "2122" "0" "c.*22C>A" "r.(?)" "p.(=)" "19"
"0000436166" "00008466" "90" "2122" "0" "2122" "0" "c.*22C>A" "r.(?)" "p.(=)" "19"
"0000436167" "00008466" "90" "43" "0" "43" "0" "c.43A>G" "r.43a>g" "p.Thr15Ala" "2"
"0000436168" "00008466" "90" "621" "0" "622" "0" "c.621_622del" "r.621_622del" "p.Leu208fs" "8"
"0000436169" "00008466" "90" "224" "0" "224" "0" "c.224dup" "r.(?)" "p.(Gln76AlafsTer11)" "4"
"0000436170" "00008466" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Cys)" "4"
"0000436171" "00008466" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Cys)" "4"
"0000436172" "00008466" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Cys)" "4"
"0000436173" "00008466" "90" "685" "210" "685" "210" "c.685+210G>A" "r.(?)" "p.(Trp229+11*)" "8i"
"0000436174" "00008466" "90" "685" "210" "685" "210" "c.685+210G>A" "r.(?)" "p.(Trp229+11*)" "8i"
"0000436175" "00008466" "90" "1475" "0" "1475" "0" "c.1475T>C" "r.(?)" "p.(Met492Thr)" "15"
"0000436176" "00008466" "90" "128" "0" "128" "0" "c.128A>T" "r.(?)" "p.(Asp43Val)" "3"
"0000436177" "00008466" "90" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Ile121Thr)" "5"
"0000436178" "00008466" "90" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Arg385His)" "13"
"0000436179" "00008466" "90" "1301" "0" "1301" "0" "c.1301G>A" "r.(?)" "p.(Arg434His)" "14"
"0000436180" "00008466" "90" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Thr15Met)" "2"
"0000436181" "00008466" "90" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Trp)" "15"
"0000436182" "00008466" "90" "595" "0" "595" "0" "c.595G>T" "r.595g>u" "p.Val199Phe" "7"
"0000436183" "00008466" "90" "-1092" "0" "-1092" "0" "c.-1092G>A" "r.(=)" "p.(=)" "-"
"0000436184" "00008466" "10" "-1092" "0" "-1092" "0" "c.-1092G>A" "r.(=)" "p.(=)" "-"
"0000436185" "00008466" "10" "7" "36" "7" "36" "c.7+36T>C" "r.(=)" "p.(=)" "1i"
"0000436186" "00008466" "70" "7" "36" "7" "36" "c.7+36T>C" "r.(=)" "p.(=)" "1i"
"0000436187" "00008466" "10" "408" "30" "408" "30" "c.408+30T>C" "r.(?)" "p.(=)" "5i"
"0000436188" "00008466" "10" "408" "107" "408" "107" "c.408+107T>G" "r.(?)" "p.(=)" "5i"
"0000436189" "00008466" "10" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(=)" "8"
"0000436190" "00008466" "10" "1051" "7" "1051" "7" "c.1051+7A>G" "r.(=)" "p.(=)" "11i"
"0000436191" "00008466" "10" "2900" "0" "2900" "0" "c.*800G>T" "r.(=)" "p.(=)" "19"
"0000436192" "00008466" "10" "-1591" "0" "-1591" "0" "c.-1591C>G" "r.(=)" "p.(=)" "-"
"0000436193" "00008466" "50" "116" "0" "116" "0" "c.116G>T" "r.(spl?)" "p.(Gly39Val?)" "3"
"0000436194" "00008466" "50" "236" "0" "236" "0" "c.236T>C" "r.(?)" "p.(Met79Thr)" "4"
"0000436195" "00008466" "30" "1042" "0" "1042" "0" "c.1042G>T" "-" "p.Asp348Tyr" "11"
"0000436196" "00008466" "30" "43" "0" "43" "0" "c.43A>G" "r.(?)" "p.Thr15Ala" "2"
"0000436197" "00008466" "30" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.Arg111Cys" "4"
"0000436198" "00008466" "30" "1475" "0" "1475" "0" "c.1475T>C" "-" "p.Met492Thr" "15"
"0000436199" "00008466" "30" "128" "0" "128" "0" "c.128A>T" "r.(?)" "p.Asp43Val" "3"
"0000436200" "00008466" "30" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.Ile121Thr" "5"
"0000436201" "00008466" "30" "1301" "0" "1301" "0" "c.1301G>A" "-" "p.Arg434His" "14"
"0000436202" "00008466" "10" "-1092" "0" "-1092" "0" "c.-1092G>A" "r.(=)" "p.(=)" "-"
"0000436203" "00008466" "70" "7" "36" "7" "36" "c.7+36T>C" "r.(=)" "p.(=)" "1i"
"0000436204" "00008466" "50" "-1029" "0" "-1029" "0" "c.-1029G>A" "r.(=)" "p.(=)" "-"
"0000436205" "00008466" "90" "-1591" "0" "-1591" "0" "c.-1591C>G" "r.(=)" "p.(=)" "-"
"0000516599" "00008466" "30" "2056" "-4" "2056" "-4" "c.2056-4G>T" "r.spl?" "p.?" ""
"0000516600" "00008466" "30" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Arg239Gln)" ""
"0000516602" "00008466" "30" "408" "7" "408" "7" "c.408+7A>T" "r.(=)" "p.(=)" ""
"0000676700" "00008466" "30" "2056" "-11" "2056" "-11" "c.2056-11dup" "r.(=)" "p.(=)" ""
"0000676701" "00008466" "30" "210" "0" "210" "0" "c.210T>A" "r.(?)" "p.(Asp70Glu)" ""
"0000697586" "00008466" "70" "686" "-2" "686" "-2" "c.686-2A>G" "r.spl" "p.?" ""
"0000718929" "00008466" "70" "2122" "0" "2122" "0" "c.*22C>A" "r.(=)" "p.(=)" ""
"0000718930" "00008466" "70" "606" "-8" "606" "-8" "c.606-8A>G" "r.(=)" "p.(=)" ""
"0000718931" "00008466" "30" "544" "-9" "544" "-9" "c.544-9C>T" "r.(=)" "p.(=)" ""
"0000718932" "00008466" "70" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Ile121Thr)" ""
"0000718933" "00008466" "70" "253" "0" "253" "0" "c.253T>G" "r.(?)" "p.(Phe85Val)" ""
"0000800767" "00008466" "30" "1143" "0" "1143" "0" "c.1143C>T" "r.(?)" "p.(Ile381=)" ""
"0000833039" "00008466" "70" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Val501Ile)" ""
"0000833059" "00008466" "70" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Thr15Met)" ""
"0000833063" "00008466" "70" "686" "-2" "686" "-2" "c.686-2A>G" "r.spl" "p.?" ""
"0000849985" "00008466" "30" "223" "5" "223" "5" "c.223+5C>T" "r.spl?" "p.?" ""
"0000858635" "00008466" "70" "2122" "0" "2122" "0" "c.*22C>A" "r.(=)" "p.(=)" ""
"0000858636" "00008466" "70" "738" "0" "739" "0" "c.738_739del" "r.(?)" "p.(Gly247GlnfsTer33)" ""
"0000858637" "00008466" "30" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Leu225=)" ""
"0000858638" "00008466" "70" "606" "-8" "606" "-8" "c.606-8A>G" "r.(=)" "p.(=)" ""
"0000858639" "00008466" "30" "224" "-10" "224" "-10" "c.224-10T>C" "r.(=)" "p.(=)" ""
"0000871938" "00008466" "90" "41" "0" "41" "0" "c.41G>A" "r.(?)" "p.(Arg14Gln)" ""
"0000871939" "00008466" "90" "1265" "0" "1268" "0" "c.1265_1268del" "r.(?)" "p.(Phe422Trpfs*26)" ""
"0000872072" "00008466" "90" "686" "-2" "686" "-2" "c.686-2A>G" "r.spl" "p.?" "8i"
"0000872075" "00008466" "90" "686" "-2" "686" "-2" "c.686-2A>G" "r.spl" "p.?" "8i"
"0000885355" "00008466" "50" "1376" "0" "1376" "0" "c.1376C>T" "r.(?)" "p.(Ala459Val)" ""
"0000962262" "00008466" "30" "408" "19" "408" "19" "c.408+19A>G" "r.(=)" "p.(=)" ""
"0001013781" "00008466" "30" "223" "5" "223" "5" "c.223+5C>T" "r.spl?" "p.?" ""
"0001024668" "00008466" "50" "1597" "19" "1597" "19" "c.1597+19A>G" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 68
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000002290"
"0000000209" "0000003679"
"0000000210" "0000011644"
"0000000210" "0000011645"
"0000035998" "0000063123"
"0000035999" "0000063124"
"0000036000" "0000063125"
"0000036001" "0000063126"
"0000036002" "0000063127"
"0000036003" "0000063128"
"0000036004" "0000063129"
"0000036005" "0000063130"
"0000036006" "0000063131"
"0000036007" "0000063132"
"0000036008" "0000063133"
"0000036009" "0000063134"
"0000036010" "0000063135"
"0000036011" "0000063136"
"0000036012" "0000063137"
"0000054623" "0000084573"
"0000054623" "0000084615"
"0000206549" "0000436156"
"0000206550" "0000436157"
"0000206550" "0000436158"
"0000206551" "0000436159"
"0000206551" "0000436160"
"0000206552" "0000436161"
"0000206552" "0000436162"
"0000206553" "0000436163"
"0000206553" "0000436165"
"0000206554" "0000436164"
"0000206554" "0000436182"
"0000206555" "0000436166"
"0000206555" "0000436175"
"0000206556" "0000436167"
"0000206556" "0000436168"
"0000206557" "0000436169"
"0000206557" "0000436170"
"0000206558" "0000436171"
"0000206558" "0000436172"
"0000206559" "0000436173"
"0000206559" "0000436174"
"0000206560" "0000436176"
"0000206560" "0000436177"
"0000206561" "0000436178"
"0000206561" "0000436179"
"0000206562" "0000436180"
"0000206562" "0000436181"
"0000206563" "0000436183"
"0000206564" "0000436184"
"0000206565" "0000436185"
"0000206566" "0000436186"
"0000206567" "0000436187"
"0000206568" "0000436188"
"0000206569" "0000436189"
"0000206570" "0000436190"
"0000206571" "0000436191"
"0000206572" "0000436192"
"0000206573" "0000436193"
"0000206573" "0000436194"
"0000315497" "0000697586"
"0000400232" "0000833039"
"0000400252" "0000833059"
"0000400256" "0000833063"
"0000414303" "0000871938"
"0000414303" "0000871939"
"0000414400" "0000872072"
"0000414406" "0000872075"