### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = G6PC)
# 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}}"
"G6PC" "glucose-6-phosphatase, catalytic subunit" "17" "q21" "unknown" "NC_000017.10" "UD_134408605275" "" "https://www.LOVD.nl/G6PC1" "" "1" "4056" "2538" "613742" "1" "1" "1" "1" "NOTE: gene name changed from G6PC to G6PC1\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/G6PC_codingDNA.html" "1" "" "NOTE: gene name changed from G6PC to G6PC1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-27 15:01:55" "00000" "2024-10-29 21:08:56"
## 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}}"
"00008247" "G6PC" "transcript variant 1" "001" "NM_000151.3" "" "NP_000142.2" "" "" "" "-80" "4081" "1074" "41052814" "41066450" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 11
"{{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" "" ""
"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"
"00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33"
"01819" "GSD1A" "storage disease, glycogen, type 1A (GSD-1A)" "AR" "232200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01820" "GSD1B" "glycogen storage disease, type Ib (GSD1B)" "AR" "232220" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-02-03 14:20:19"
"03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04216" "GSD" "storage disease, glycogen (GSD)" "" "" "" "" "" "00006" "2015-03-05 15:32:25" "" ""
"04217" "WEST" "West syndrome (WEST, epileptic encephalopathy, early infantile)" "" "" "" "" "" "00006" "2015-03-06 11:05:39" "" ""
"05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"G6PC" "01819"
## Individuals ## Do not remove or alter this header ##
## Count = 54
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00103995" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-049A"
"00104004" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-125A"
"00183458" "" "" "" "1" "" "02947" "{PMID:Giugliano 2018:30373198}" "" "M" "" "Italy" "" "0" "" "" "" "Patient XX"
"00245845" "" "" "" "1" "" "02976" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00245846" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" ""
"00245847" "" "" "" "1" "" "00000" "" "liver biopsy G6Pase activity undetectable" "" "" "United States" "" "0" "" "" "" ""
"00245848" "" "" "" "1" "" "00000" "" "" "" "" "United States" "" "0" "" "" "" ""
"00291712" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291713" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291714" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00329073" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "" "M" "" "United States" "" "0" "" "" "" "P1"
"00329074" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "" "M" "" "United States" "" "0" "" "" "" "P2"
"00329089" "" "" "" "1" "" "00000" "{PMID:Wang 2013:22899091}" "" "M" "" "United States" "" "0" "" "" "" "P22"
"00395953" "" "" "" "1" "" "00006" "{PMID:Razaq 2021:34869784}" "" "M" "no" "United States" "" "0" "" "" "Middle East;Hispanic" "patient"
"00415265" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "M" "" "" "" "0" "" "" "" "20"
"00427051" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "" ""
"00432971" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" "#8"
"00432973" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" "#9"
"00432975" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" "#10"
"00432976" "" "" "" "4" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" "#1"
"00432977" "" "" "" "2" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" "#2"
"00432978" "" "" "" "4" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" "#3"
"00432979" "" "" "" "2" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" "#5"
"00432980" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "Hispanic" "#4"
"00432981" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "Hispanic" "#6"
"00432982" "" "" "" "3" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" "#7"
"00433162" "" "" "" "38" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" ""
"00433163" "" "" "" "29" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" ""
"00433164" "" "" "" "9" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "Hispanic" ""
"00433165" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" ""
"00433166" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" ""
"00433167" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "" "" "0" "" "" "" ""
"00433168" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "United States" "" "0" "" "" "Jew" ""
"00433169" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "United States" "" "0" "" "" "Jew" ""
"00433170" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "United States" "" "0" "" "" "Jew" ""
"00433171" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "United States" "" "0" "" "" "Jew" ""
"00433172" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "United States" "" "0" "" "" "Jew" ""
"00433173" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "United States" "" "0" "" "" "Jew" ""
"00433174" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "United States" "" "0" "" "" "Jew" ""
"00433175" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "United States" "" "0" "" "" "Jew" ""
"00433176" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "China" "" "0" "" "" "" ""
"00433177" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7573034}" "" "" "" "China" "" "0" "" "" "" ""
"00433199" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7814621}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "PatAN"
"00433200" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7814621}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "" "" "United States" "" "0" "" "" "" "PatLT"
"00433201" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7814621}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "" "" "United States" "" "0" "" "" "" "PatCA"
"00433202" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7814621}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "PatJD"
"00433203" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7814621}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "PatPG"
"00433204" "" "" "" "1" "" "00006" "{PMID:Lei 1995:7814621}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "" "" "United States" "" "0" "" "" "" "PatRH"
"00433205" "" "" "" "1" "" "00006" "" "" "" "" "United States" "" "0" "" "" "" "PatML"
"00433206" "" "" "" "1" "" "00006" "{PMID:Lei 1994:8182131}" "" "" "" "United States" "" "0" "" "" "" "PatLLP"
"00445042" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "?"
"00451441" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-029"
"00451657" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Parents with inbreeding and consanguinity (not molecularly tested)." "F" "yes" "Mexico" "" "" "" "" "Mexican" "3bINP-102"
"00451660" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-107"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 55
"{{individualid}}" "{{diseaseid}}"
"00103995" "03381"
"00104004" "03381"
"00183458" "00244"
"00245845" "01820"
"00245846" "00000"
"00245847" "01819"
"00245848" "01819"
"00291712" "00198"
"00291713" "00198"
"00291714" "00198"
"00329073" "04216"
"00329074" "04216"
"00329089" "04216"
"00395953" "04217"
"00395953" "05378"
"00415265" "04214"
"00427051" "00000"
"00432971" "01819"
"00432973" "01819"
"00432975" "01819"
"00432976" "01819"
"00432977" "01819"
"00432978" "01819"
"00432979" "01819"
"00432980" "01819"
"00432981" "01819"
"00432982" "01819"
"00433162" "01819"
"00433163" "01819"
"00433164" "01819"
"00433165" "01819"
"00433166" "01819"
"00433167" "01819"
"00433168" "01819"
"00433169" "01819"
"00433170" "01819"
"00433171" "01819"
"00433172" "01819"
"00433173" "01819"
"00433174" "01819"
"00433175" "01819"
"00433176" "01819"
"00433177" "01819"
"00433199" "01819"
"00433200" "01819"
"00433201" "01819"
"00433202" "01819"
"00433203" "01819"
"00433204" "01819"
"00433205" "01819"
"00433206" "01819"
"00445042" "00296"
"00451441" "01819"
"00451657" "01819"
"00451660" "01819"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00244, 00296, 01819, 01820, 03381, 04214, 04216, 04217, 05378
## Count = 13
"{{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}}"
"0000081929" "03381" "00103995" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" ""
"0000081938" "03381" "00104004" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" ""
"0000171338" "00244" "00183458" "00006" "Unknown" "" "onset adult, hyperCKemia, proximal muscle weakness, elevated CPK (7x), EMG normal, biopsy myopathic features" "" "" "hyperCKemia" "" "" "" "" "" "" "myopathy" ""
"0000247270" "04216" "00329073" "00000" "Familial, autosomal recessive" "6m" "see paper; ..., hypoglycemia, hepatosplenomegaly" "" "" "" "" "" "" "" "" "" "glycogen storage disease" ""
"0000247271" "04216" "00329074" "00000" "Familial, autosomal recessive" "7y" "see paper; ..., hypoglycemia, mild hepatosplenomegaly" "" "" "" "" "" "" "" "" "" "glycogen storage disease" ""
"0000247286" "04216" "00329089" "00000" "Familial, autosomal recessive" "1y" "see paper; ..., GSD Ia, hypoglycemia, lactic acidosis, hepatomegaly" "" "" "" "" "" "" "" "" "" "glycogen storage disease" ""
"0000289115" "05378" "00395953" "00006" "Familial, autosomal recessive" "00y22m" "4m-epileptic spasms, no head control; 5m-EEG hypsarrhythmia; 9m-severe developmental delay; MRI brain cortical atrophy; 18m-raised CK 25,000, 20m-" "00y04m" "" "epileptic spasms" "" "" "" "" "" "" "" ""
"0000307063" "04214" "00415265" "00000" "Familial, autosomal recessive" "" "OMIM: 232200; hepatomegaly, high liver enzymes, high lactic acid, high ammonia, and direct hyperbilirubinemia" "" "" "" "" "" "" "" "" "glycogen storage disease type 1a" "" ""
"0000323728" "01819" "00433199" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "GSD1A" "" ""
"0000334294" "00296" "00445042" "00006" "Familial, autosomal recessive" "" "bilateral cataract" "" "" "" "" "" "" "" "" "GSD1A" "cataract" ""
"0000340190" "01819" "00451441" "04221" "Familial, autosomal recessive" "" "Hypoglycemia" "" "10y07m" "" "" "" "" "" "" "storage disease, glycogen, type 1A" "Glycogen storage disease I" ""
"0000340318" "01819" "00451657" "04221" "Familial, autosomal recessive" "" "Mild Intellectual disability, Hepatomegaly, Hypoglicemias" "" "00y03m" "" "" "" "" "" "" "Glycogen storage disease Ia" "Glycogen storage disease" ""
"0000340321" "01819" "00451660" "04221" "Familial, autosomal recessive" "" "Short stature, Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia." "" "" "" "" "" "" "" "" "Glycogen storage disease Ia" "Glycogen storage disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 54
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000104466" "00103995" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" ""
"0000104475" "00104004" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" ""
"0000184426" "00183458" "1" "02947" "02947" "2018-10-25 15:41:51" "" "" "arrayCGH" "DNA" "" ""
"0000246957" "00245845" "1" "02976" "02976" "2012-01-21 12:21:50" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000246958" "00245846" "1" "00000" "00006" "2012-01-21 12:21:50" "" "" "SEQ" "DNA" "" ""
"0000246959" "00245847" "1" "00000" "00006" "2012-01-21 12:43:46" "" "" "SEQ" "DNA" "" ""
"0000246960" "00245848" "1" "00000" "00006" "2012-01-21 12:43:46" "" "" "SEQ" "DNA" "" ""
"0000292880" "00291712" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292881" "00291713" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292882" "00291714" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000330290" "00329073" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" ""
"0000330291" "00329074" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" ""
"0000330306" "00329089" "1" "00000" "00006" "2021-02-03 15:44:42" "" "" "SEQ" "DNA" "" ""
"0000397192" "00395953" "1" "00006" "00006" "2021-12-09 13:38:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000416547" "00415265" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory"
"0000428371" "00427051" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel"
"0000434415" "00432971" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434417" "00432973" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434419" "00432975" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434420" "00432976" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434421" "00432977" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434422" "00432978" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434423" "00432979" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434424" "00432980" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434425" "00432981" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434426" "00432982" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434616" "00433162" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434617" "00433163" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434618" "00433164" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434619" "00433165" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434620" "00433166" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434621" "00433167" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434622" "00433168" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434623" "00433169" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434624" "00433170" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434625" "00433171" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434626" "00433172" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434627" "00433173" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434628" "00433174" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434629" "00433175" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434630" "00433176" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434631" "00433177" "1" "00006" "00006" "2023-02-27 15:15:43" "" "" "SEQ;SSCA" "DNA" "" ""
"0000434653" "00433199" "1" "00006" "00006" "2023-03-03 15:32:33" "" "" "SEQ" "DNA" "" ""
"0000434654" "00433200" "1" "00006" "00006" "2023-03-03 15:35:10" "" "" "SEQ" "DNA" "" ""
"0000434655" "00433201" "1" "00006" "00006" "2023-03-03 15:37:16" "" "" "SEQ" "DNA" "" ""
"0000434656" "00433202" "1" "00006" "00006" "2023-03-03 15:40:47" "" "" "SEQ" "DNA" "" ""
"0000434657" "00433203" "1" "00006" "00006" "2023-03-03 15:43:26" "" "" "SEQ" "DNA" "" ""
"0000434658" "00433204" "1" "00006" "00006" "2023-03-03 15:47:59" "" "" "SEQ" "DNA" "" ""
"0000434659" "00433205" "1" "00006" "00006" "2023-03-03 15:50:15" "" "" "SEQ" "DNA" "" ""
"0000434660" "00433206" "1" "00006" "00006" "2023-03-03 15:55:05" "" "" "SEQ" "DNA" "" ""
"0000446612" "00445042" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000453041" "00451441" "1" "04221" "04221" "2024-06-04 01:43:27" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing"
"0000453261" "00451657" "1" "04221" "04221" "2024-06-21 21:55:32" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing"
"0000453264" "00451660" "1" "04221" "04221" "2024-06-21 22:19:19" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 46
"{{screeningid}}" "{{geneid}}"
"0000246957" "G6PC"
"0000246958" "G6PC"
"0000246959" "G6PC"
"0000246960" "G6PC"
"0000330290" "G6PC"
"0000330291" "G6PC"
"0000330306" "G6PC"
"0000397192" "DMD"
"0000416547" "G6PC"
"0000434415" "G6PC"
"0000434417" "G6PC"
"0000434419" "G6PC"
"0000434420" "G6PC"
"0000434421" "G6PC"
"0000434422" "G6PC"
"0000434423" "G6PC"
"0000434424" "G6PC"
"0000434425" "G6PC"
"0000434426" "G6PC"
"0000434616" "G6PC"
"0000434617" "G6PC"
"0000434618" "G6PC"
"0000434619" "G6PC"
"0000434620" "G6PC"
"0000434621" "G6PC"
"0000434622" "G6PC"
"0000434623" "G6PC"
"0000434624" "G6PC"
"0000434625" "G6PC"
"0000434626" "G6PC"
"0000434627" "G6PC"
"0000434628" "G6PC"
"0000434629" "G6PC"
"0000434630" "G6PC"
"0000434631" "G6PC"
"0000434653" "G6PC"
"0000434654" "G6PC"
"0000434655" "G6PC"
"0000434656" "G6PC"
"0000434657" "G6PC"
"0000434658" "G6PC"
"0000434659" "G6PC"
"0000434660" "G6PC"
"0000453041" "G6PC"
"0000453261" "G6PC"
"0000453264" "G6PC"
## 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 = 114
"{{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}}"
"0000169207" "0" "70" "17" "41053074" "41053074" "subst" "0" "00587" "G6PC_000022" "g.41053074C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000151.3(G6PC):c.181C>T p.(Leu61Phe)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.42901057C>T" "" "likely pathogenic" ""
"0000169216" "0" "70" "17" "41052989" "41052990" "del" "0" "00587" "G6PC_000021" "g.41052989_41052990del" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000151.3(G6PC):c.96_97del p.(Leu32Phefs*28)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.42900972_42900973del" "" "likely pathogenic" ""
"0000250492" "0" "70" "17" "41063157" "41063157" "del" "0" "02329" "G6PC_000010" "g.41063157del" "" "" "" "G6PC1(NM_000151.4):c.788delA (p.K263Rfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42911140del" "" "likely pathogenic" ""
"0000255311" "0" "30" "17" "41055944" "41055944" "subst" "4.062E-6" "01943" "G6PC_000025" "g.41055944A>G" "" "" "" "G6PC(NM_001270397.1):c.231-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42903927A>G" "" "likely benign" ""
"0000284449" "0" "30" "17" "41053029" "41053029" "subst" "4.06114E-5" "02326" "G6PC_000024" "g.41053029C>T" "" "" "" "G6PC(NM_000151.2):c.136C>T (p.L46F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42901012C>T" "" "likely benign" ""
"0000284450" "0" "90" "17" "41055964" "41055964" "subst" "0.000584824" "02326" "G6PC_000001" "g.41055964C>T" "" "" "" "G6PC(NM_000151.2):c.247C>T (p.R83C), G6PC(NM_001270397.1):c.247C>T (p.R83C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic" ""
"0000284451" "0" "10" "17" "41056067" "41056067" "subst" "0.000938399" "02326" "G6PC_000027" "g.41056067C>A" "" "" "" "G6PC(NM_000151.2):c.340+10C>A, G6PC(NM_001270397.1):c.340+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42904050C>A" "" "benign" ""
"0000284452" "0" "10" "17" "41059631" "41059631" "subst" "0.00565391" "02326" "G6PC_000028" "g.41059631G>A" "" "" "" "G6PC(NM_001270397.2):c.355G>A (p.D119N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42907614G>A" "" "benign" ""
"0000284453" "0" "90" "17" "41061381" "41061381" "subst" "2.84255E-5" "02326" "G6PC_000029" "g.41061381C>T" "" "" "" "G6PC(NM_000151.2):c.508C>T (p.R170*), G6PC1(NM_000151.4):c.508C>T (p.R170*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42909364C>T" "" "pathogenic" ""
"0000342566" "0" "70" "17" "41063253" "41063253" "subst" "1.21858E-5" "02327" "G6PC_000012" "g.41063253G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42911236G>A" "" "likely pathogenic" ""
"0000345817" "0" "90" "17" "41061435" "41061435" "subst" "5.27987E-5" "02327" "G6PC_000011" "g.41061435G>C" "" "" "" "G6PC(NM_001270397.1):c.485G>C (p.R162T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42909418G>C" "" "pathogenic" ""
"0000408471" "11" "90" "17" "41050890" "41053142" "del" "0" "02947" "G6PC_000013" "g.(41000000_41050890)_(41053142_41055947)del" "" "{PMID:Giugliano 2018:30373198}" "" "g.41050890_41053142del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000499791" "0" "95" "17" "41055964" "41055964" "subst" "0.000584824" "02976" "G6PC_000001" "g.41055964C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic" ""
"0000499792" "0" "55" "17" "41055964" "41055964" "subst" "0.000584824" "00000" "G6PC_000001" "g.41055964C>T" "" "" "" "" "" "Unknown" "" "rs1801175" "0" "" "" "g.42903947C>T" "" "VUS" ""
"0000499793" "21" "95" "17" "41055964" "41055964" "subst" "0.000584824" "00000" "G6PC_000001" "g.41055964C>T" "" "{PMID:Lei 1993:08211187}, {OMIM613742:0002}" "" "362C>T" "" "Unknown" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic" ""
"0000499794" "0" "55" "17" "41059578" "41059579" "dup" "0" "00000" "G6PC_000004" "g.41059578_41059579dup" "" "" "" "" "" "Unknown" "" "rs80356488" "0" "" "" "g.42907561_42907562dup" "" "VUS" ""
"0000499795" "21" "95" "17" "41059578" "41059579" "dup" "0" "00000" "G6PC_000004" "g.41059578_41059579dup" "" "{PMID:Lei 1993:08211187}, {OMIM613742:0001}" "" "459insAT" "" "Unknown" "" "" "0" "" "" "g.42907561_42907562dup" "" "pathogenic" ""
"0000499796" "21" "95" "17" "41059578" "41059579" "dup" "0" "00000" "G6PC_000004" "g.41059578_41059579dup" "" "{PMID:Lei 1993:08211187}, {OMIM613742:0002}" "" "459insAT" "" "Unknown" "" "" "0" "" "" "g.42907561_42907562dup" "" "pathogenic" ""
"0000499797" "0" "55" "17" "41063252" "41063252" "subst" "1.21854E-5" "00000" "G6PC_000003" "g.41063252C>T" "" "" "" "" "" "Unknown" "" "rs104894563" "0" "" "" "g.42911235C>T" "" "VUS" ""
"0000499798" "11" "95" "17" "41063252" "41063252" "subst" "1.21854E-5" "00000" "G6PC_000003" "g.41063252C>T" "" "{PMID:Lei 1993:08211187}, {OMIM613742:0003}" "" "962C>T" "" "Unknown" "" "" "0" "" "" "g.42911235C>T" "" "pathogenic" ""
"0000499799" "0" "95" "17" "41063408" "41063408" "subst" "0.000203389" "02976" "G6PC_000002" "g.41063408C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42911391C>T" "" "pathogenic" ""
"0000499800" "0" "55" "17" "41063408" "41063408" "subst" "0.000203389" "00000" "G6PC_000002" "g.41063408C>T" "" "" "" "" "" "Unknown" "" "rs80356487" "0" "" "" "g.42911391C>T" "" "VUS" ""
"0000561550" "0" "30" "17" "41056067" "41056067" "subst" "0.000938399" "01943" "G6PC_000027" "g.41056067C>A" "" "" "" "G6PC(NM_000151.2):c.340+10C>A, G6PC(NM_001270397.1):c.340+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42904050C>A" "" "likely benign" ""
"0000561551" "0" "50" "17" "41062964" "41062964" "subst" "0" "01943" "G6PC_000030" "g.41062964C>T" "" "" "" "G6PC(NM_001270397.1):c.518C>T (p.P173L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42910947C>T" "" "VUS" ""
"0000561552" "0" "30" "17" "41063323" "41063323" "subst" "1.62477E-5" "01943" "G6PC_000031" "g.41063323C>T" "" "" "" "G6PC(NM_000151.2):c.954C>T (p.V318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42911306C>T" "" "likely benign" ""
"0000616562" "0" "70" "17" "41063381" "41063381" "subst" "1.21915E-5" "02325" "G6PC_000032" "g.41063381G>T" "" "" "" "G6PC1(NM_000151.4):c.1012G>T (p.V338F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42911364G>T" "" "likely pathogenic" ""
"0000649569" "1" "90" "17" "41055964" "41055964" "subst" "0.000584824" "03575" "G6PC_000001" "g.41055964C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs1801175}" "Germline" "" "rs1801175" "0" "" "" "g.42903947C>T" "" "pathogenic" ""
"0000649570" "1" "90" "17" "41063391" "41063391" "subst" "2.84497E-5" "03575" "G6PC_000033" "g.41063391T>A" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs387906505}" "Germline" "" "rs387906505" "0" "" "" "g.42911374T>A" "" "pathogenic" ""
"0000649571" "1" "50" "17" "41064188" "41064188" "subst" "0" "03575" "G6PC_000034" "g.41064188G>T" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs116897758}" "Germline" "" "rs116897758" "0" "" "" "g.42912171G>T" "" "VUS" ""
"0000658120" "0" "90" "17" "41053102" "41053102" "subst" "0" "02327" "G6PC_000035" "g.41053102G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42901085G>A" "" "pathogenic" ""
"0000658121" "0" "90" "17" "41061435" "41061435" "subst" "5.27987E-5" "01943" "G6PC_000011" "g.41061435G>C" "" "" "" "G6PC(NM_001270397.1):c.485G>C (p.R162T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42909418G>C" "" "pathogenic" ""
"0000658122" "0" "30" "17" "41063279" "41063279" "subst" "6.09246E-5" "01943" "G6PC_000036" "g.41063279G>A" "" "" "" "G6PC(NM_000151.2):c.910G>A (p.V304I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42911262G>A" "" "likely benign" ""
"0000714821" "3" "90" "17" "41059539" "41066450" "del" "0" "00000" "G6PC_000038" "g.(41056058_41059539)_(41066450_?)del" "" "{PMID:Wang 2013:22899091}" "" "E3-E5 del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000714822" "1" "90" "17" "41059578" "41059579" "dup" "0" "00000" "G6PC_000004" "g.41059578_41059579dup" "" "{PMID:Wang 2013:22899091}" "" "379_380dupTA" "" "Germline" "" "" "0" "" "" "g.42907561_42907562dup" "" "pathogenic (recessive)" ""
"0000714837" "3" "90" "17" "41059578" "41059579" "dup" "0" "00000" "G6PC_000004" "g.41059578_41059579dup" "" "{PMID:Wang 2013:22899091}" "" "379_380dupTA" "" "Germline" "" "" "0" "" "" "g.42907561_42907562dup" "" "pathogenic (recessive)" ""
"0000714867" "2" "90" "17" "41061406" "41061406" "subst" "2.03039E-5" "00000" "G6PC_000039" "g.41061406C>T" "" "{PMID:Wang 2013:22899091}" "" "" "" "Germline" "" "" "0" "" "" "g.42909389C>T" "" "pathogenic (recessive)" ""
"0000726375" "0" "30" "17" "41052817" "41052817" "subst" "0" "02330" "G6PC_000023" "g.41052817G>A" "" "" "" "G6PC1(NM_001270397.2):c.-77G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000726376" "0" "90" "17" "41053082" "41053082" "subst" "4.06213E-6" "02325" "G6PC_000040" "g.41053082G>A" "" "" "" "G6PC(NM_000151.2):c.189G>A (p.W63*), G6PC1(NM_000151.4):c.189G>A (p.W63*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000726377" "0" "90" "17" "41061381" "41061381" "subst" "2.84255E-5" "02330" "G6PC_000029" "g.41061381C>T" "" "" "" "G6PC(NM_000151.2):c.508C>T (p.R170*), G6PC1(NM_000151.4):c.508C>T (p.R170*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000726378" "0" "30" "17" "41063371" "41063371" "subst" "0.000101575" "01943" "G6PC_000041" "g.41063371C>T" "" "" "" "G6PC(NM_000151.2):c.1002C>T (p.P334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807972" "0" "90" "17" "41052972" "41052972" "del" "0" "02325" "G6PC_000037" "g.41052972del" "" "" "" "G6PC1(NM_000151.4):c.79delC (p.Q27Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000807973" "0" "90" "17" "41053006" "41053006" "subst" "8.1217E-6" "02325" "G6PC_000042" "g.41053006A>T" "" "" "" "G6PC1(NM_000151.4):c.113A>T (p.D38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000807974" "0" "30" "17" "41063279" "41063279" "subst" "6.09246E-5" "02326" "G6PC_000036" "g.41063279G>A" "" "" "" "G6PC(NM_000151.2):c.910G>A (p.V304I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807975" "0" "30" "17" "41063317" "41063317" "subst" "7.71711E-5" "01943" "G6PC_000043" "g.41063317C>A" "" "" "" "G6PC(NM_000151.2):c.948C>A (p.S316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807976" "0" "90" "17" "41063349" "41063351" "del" "0" "02325" "G6PC_000044" "g.41063349_41063351del" "" "" "" "G6PC(NM_000151.2):c.980_982delTCT (p.F327del), G6PC1(NM_000151.4):c.980_982delTCT (p.F327del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000807977" "0" "30" "17" "41063416" "41063416" "subst" "0" "01943" "G6PC_000045" "g.41063416G>T" "" "" "" "G6PC(NM_000151.2):c.1047G>T (p.L349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000829039" "0" "70" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "" "{PMID:Razaq 2021:34869784}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" ""
"0000854899" "0" "30" "17" "41063278" "41063278" "subst" "0.000288374" "02326" "G6PC_000047" "g.41063278C>T" "" "" "" "G6PC(NM_000151.2):c.909C>T (p.L303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000865253" "0" "30" "17" "41053025" "41053025" "subst" "0.00110469" "01943" "G6PC_000046" "g.41053025C>T" "" "" "" "G6PC(NM_001270397.1):c.132C>T (p.Y44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000865254" "0" "50" "17" "41055964" "41055964" "subst" "0.000584824" "01943" "G6PC_000001" "g.41055964C>T" "" "" "" "G6PC(NM_000151.2):c.247C>T (p.R83C), G6PC(NM_001270397.1):c.247C>T (p.R83C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000865255" "0" "90" "17" "41063408" "41063408" "subst" "0.000203389" "01943" "G6PC_000002" "g.41063408C>T" "" "" "" "G6PC(NM_000151.2):c.1039C>T (p.Q347*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000865256" "0" "30" "17" "41063437" "41063437" "subst" "0.00018737" "01943" "G6PC_000048" "g.41063437G>A" "" "" "" "G6PC(NM_000151.2):c.1068G>A (p.S356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000874675" "3" "70" "17" "41055964" "41055964" "subst" "0.000584824" "00000" "G6PC_000001" "g.41055964C>T" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "G6PC, NM_000151.3, c.247C>T, p.Arg83Cys" "homozygous" "Unknown" "?" "" "0" "" "" "g.42903947C>T" "" "likely pathogenic" "ACMG"
"0000893584" "0" "90" "17" "41063157" "41063157" "del" "0" "02325" "G6PC_000010" "g.41063157del" "" "" "" "G6PC1(NM_000151.4):c.788delA (p.K263Rfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000893585" "0" "90" "17" "41063349" "41063351" "del" "0" "02326" "G6PC_000044" "g.41063349_41063351del" "" "" "" "G6PC(NM_000151.2):c.980_982delTCT (p.F327del), G6PC1(NM_000151.4):c.980_982delTCT (p.F327del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000893586" "0" "30" "17" "41063466" "41063466" "subst" "0.709397" "02325" "G6PC_000049" "g.41063466T>C" "" "" "" "G6PC1(NM_000151.4):c.*23T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000906096" "1" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic (recessive)" ""
"0000906154" "0" "90" "17" "41061382" "41061382" "subst" "8.12216E-6" "00006" "G6PC_000050" "g.41061382G>A" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.42909365G>A" "" "pathogenic (recessive)" ""
"0000914823" "0" "90" "17" "41053082" "41053082" "subst" "4.06213E-6" "02326" "G6PC_000040" "g.41053082G>A" "" "" "" "G6PC(NM_000151.2):c.189G>A (p.W63*), G6PC1(NM_000151.4):c.189G>A (p.W63*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000914824" "0" "50" "17" "41063313" "41063313" "subst" "3.24934E-5" "02326" "G6PC_000051" "g.41063313C>T" "" "" "" "G6PC(NM_000151.2):c.944C>T (p.P315L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000920166" "1" "90" "17" "41063104" "41063111" "delins" "0" "00006" "G6PC_000052" "g.41063104_41063111delinsGCGAGCAG" "1/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "813insG-822delC (CEQP245-248WRAA), (734dup;743del)" "" "Germline" "" "" "0" "" "" "g.42911087_42911094delinsGCGAGCAG" "" "pathogenic (recessive)" ""
"0000920167" "1" "90" "17" "41063178" "41063178" "subst" "1.21884E-5" "00006" "G6PC_000053" "g.41063178G>T" "1/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "G888T (G270V)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920168" "1" "90" "17" "41063403" "41063404" "inv" "0" "00006" "G6PC_000054" "g.41063403_41063404inv" "1/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "T1113G-C1114A (L345R)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920170" "1" "90" "17" "41052972" "41052972" "del" "0" "00006" "G6PC_000037" "g.41052972del" "4/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "158delC (35X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920172" "1" "90" "17" "41053081" "41053081" "subst" "0" "00006" "G6PC_000055" "g.41053081G>A" "2/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "G268A (W63X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920173" "1" "90" "17" "41055965" "41055965" "subst" "4.06121E-5" "00006" "G6PC_000056" "g.41055965G>A" "8/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "G327A (R83H)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920174" "1" "90" "17" "41061435" "41061435" "subst" "1.62458E-5" "00006" "G6PC_000058" "g.41061435G>A" "2/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "G641A (G188S)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920175" "1" "90" "17" "41061405" "41061405" "subst" "4.06072E-6" "00006" "G6PC_000057" "g.41061405C>T" "1/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "C611T (P178S)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920176" "1" "90" "17" "41063075" "41063075" "subst" "0" "00006" "G6PC_000059" "g.41063075T>A" "1/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "T785A (W236R)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920177" "1" "90" "17" "41063093" "41063093" "subst" "1.21864E-5" "00006" "G6PC_000060" "g.41063093C>T" "3/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "C803T (Q242X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920461" "1" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "52/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "R83C" "" "Germline" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic (recessive)" ""
"0000920462" "1" "90" "17" "41063408" "41063408" "subst" "0.000203389" "00006" "G6PC_000002" "g.41063408C>T" "31/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "Q347X" "" "Germline" "" "" "0" "" "" "g.42911391C>T" "" "pathogenic (recessive)" ""
"0000920463" "1" "90" "17" "41059578" "41059579" "dup" "0" "00006" "G6PC_000004" "g.41059578_41059579dup" "9/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "130X (459insTA)" "" "Germline" "" "" "0" "" "" "g.42907561_42907562dup" "" "pathogenic (recessive)" ""
"0000920464" "1" "90" "17" "41063349" "41063351" "del" "0" "00006" "G6PC_000044" "g.41063349_41063351del" "4/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "delF327" "" "Germline" "" "" "0" "" "" "g.42911332_42911334del" "" "pathogenic (recessive)" ""
"0000920465" "1" "90" "17" "41063252" "41063252" "subst" "1.21854E-5" "00006" "G6PC_000003" "g.41063252C>T" "2/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "R295C" "" "Germline" "" "" "0" "" "" "g.42911235C>T" "" "pathogenic (recessive)" ""
"0000920466" "1" "90" "17" "41063033" "41063033" "subst" "0" "00006" "G6PC_000061" "g.41063033G>C" "1/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "G222R (G743C)" "" "Germline" "" "" "0" "" "" "g.42911016G>C" "" "pathogenic (recessive)" ""
"0000920468" "3" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "52/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "R83C" "" "Germline" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic (recessive)" ""
"0000920469" "3" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "52/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "R83C" "" "Germline" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic (recessive)" ""
"0000920470" "3" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "52/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "R83C" "" "Germline" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic (recessive)" ""
"0000920471" "3" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "52/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "R83C" "" "Germline" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic (recessive)" ""
"0000920472" "3" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "52/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "R83C" "" "Germline" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic (recessive)" ""
"0000920473" "3" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "52/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "R83C" "" "Germline" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic (recessive)" ""
"0000920474" "1" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "52/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "R83C" "" "Germline" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic (recessive)" ""
"0000920475" "1" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "52/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "R83C" "" "Germline" "" "" "0" "" "" "g.42903947C>T" "" "pathogenic (recessive)" ""
"0000920476" "2" "90" "17" "41063408" "41063408" "subst" "0.000203389" "00006" "G6PC_000002" "g.41063408C>T" "31/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "Q347X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920477" "2" "90" "17" "41063408" "41063408" "subst" "0.000203389" "00006" "G6PC_000002" "g.41063408C>T" "31/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "Q347X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920478" "3" "90" "17" "41055965" "41055965" "subst" "4.06121E-5" "00006" "G6PC_000056" "g.41055965G>A" "8/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "R83H" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920479" "1" "90" "17" "41055965" "41055965" "subst" "4.06121E-5" "00006" "G6PC_000056" "g.41055965G>A" "8/140 case chromosomes" "{PMID:Lei 1995:7573034}" "" "R83H" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920511" "3" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "" "{PMID:Lei 1995:7814621}" "" "C326T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920512" "3" "90" "17" "41063408" "41063408" "subst" "0.000203389" "00006" "G6PC_000002" "g.41063408C>T" "" "{PMID:Lei 1995:7814621}" "" "C1118T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920513" "21" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "" "{PMID:Lei 1995:7814621}" "" "C326T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920514" "10" "90" "17" "41063349" "41063351" "del" "0" "00006" "G6PC_000044" "g.41063349_41063351del" "" "{PMID:Lei 1995:7814621}" "" "1057delTTC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920515" "21" "90" "17" "41063408" "41063408" "subst" "0.000203389" "00006" "G6PC_000002" "g.41063408C>T" "" "{PMID:Lei 1995:7814621}" "" "C1118T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920516" "11" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "" "{PMID:Lei 1995:7814621}" "" "C326T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920517" "11" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "" "{PMID:Lei 1995:7814621}" "" "C326T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920518" "21" "90" "17" "41059578" "41059579" "dup" "0" "00006" "G6PC_000004" "g.41059578_41059579dup" "" "{PMID:Lei 1995:7814621}" "" "459insTA (130X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920519" "21" "90" "17" "41059578" "41059579" "dup" "0" "00006" "G6PC_000004" "g.41059578_41059579dup" "" "{PMID:Lei 1995:7814621}" "" "459insTA (130X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920520" "10" "90" "17" "41063408" "41063408" "subst" "0.000203389" "00006" "G6PC_000002" "g.41063408C>T" "" "{PMID:Lei 1995:7814621}" "" "C1118T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920521" "2" "90" "17" "41063408" "41063408" "subst" "0.000203389" "00006" "G6PC_000002" "g.41063408C>T" "" "{PMID:Lei 1995:7814621}" "" "C1118T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920522" "1" "90" "17" "41063033" "41063033" "subst" "0" "00006" "G6PC_000061" "g.41063033G>C" "" "{PMID:Lei 1995:7814621}" "" "G743C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920523" "1" "90" "17" "41055964" "41055964" "subst" "0.000584824" "00006" "G6PC_000001" "g.41055964C>T" "" "{PMID:Lei 1994:8182131}" "" "" "no detectable phosphohydrolase activity" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000920524" "2" "90" "17" "41063408" "41063408" "subst" "0.000203389" "00006" "G6PC_000002" "g.41063408C>T" "" "{PMID:Lei 1994:8182131}" "" "Q347stop" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000926481" "0" "30" "17" "41059607" "41059607" "subst" "8.1322E-6" "02326" "G6PC_000062" "g.41059607C>T" "" "" "" "G6PC(NM_000151.2):c.408C>T (p.S136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000926482" "0" "30" "17" "41062912" "41062912" "subst" "0" "02326" "G6PC_000063" "g.41062912T>A" "" "" "" "G6PC(NM_000151.2):c.563-20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000926483" "0" "30" "17" "41063361" "41063361" "subst" "0.000633832" "02326" "G6PC_000064" "g.41063361C>T" "" "" "" "G6PC(NM_000151.2):c.992C>T (p.A331V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950877" "0" "90" "17" "41063178" "41063178" "subst" "1.21884E-5" "02329" "G6PC_000053" "g.41063178G>T" "" "" "" "G6PC1(NM_000151.4):c.809G>T (p.G270V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000954965" "1" "90" "17" "41052972" "41052972" "del" "0" "00006" "G6PC_000037" "g.41052972del" "" "{PMID:Kessel 2021:34169787}" "" "79delC" "ACMG PSV1, PS4mod, PM2" "Germline" "" "" "0" "" "" "g.42900955del" "VCV000021062.8" "pathogenic (recessive)" ""
"0000955000" "2" "90" "17" "41055965" "41055965" "subst" "4.06121E-5" "00006" "G6PC_000056" "g.41055965G>A" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PS3, PS4mod, PM2, PP3" "Germline" "" "" "0" "" "" "g.42903948G>A" "VCV000038300.7" "pathogenic (recessive)" ""
"0000987541" "1" "90" "17" "41059578" "41059579" "dup" "0" "04221" "G6PC_000004" "g.41059578_41059579dup" "" "" "" "" "Peeks 2017:28397058, Wang 2013:22899091, Koeberl 2021:19541498" "Germline" "yes" "rs80356488" "0" "" "" "g.42907561_42907562dup" "{CV:11997}" "pathogenic (recessive)" "ACMG"
"0000987542" "2" "90" "17" "41063408" "41063408" "subst" "0.000203389" "04221" "G6PC_000002" "g.41063408C>T" "" "" "" "" "" "Germline" "yes" "rs80356487" "" "" "" "g.42911391C>T" "{CV:12000}" "pathogenic (recessive)" "ACMG"
"0000987819" "3" "90" "17" "41063178" "41063178" "subst" "1.21884E-5" "04221" "G6PC_000053" "g.41063178G>T" "" "" "" "" "Peeks 2017:28397058, Allegrini 2017:28659124, Beegle 2015:25308557" "Germline" "yes" "rs80356483" "0" "" "" "g.42911161G>T" "{CV:21063}" "pathogenic (recessive)" "ACMG"
"0000987823" "1" "90" "17" "41061406" "41061406" "subst" "2.03039E-5" "04221" "G6PC_000039" "g.41061406C>T" "" "" "" "" "This variant was classified as per ACMG guidelines (Richards et al 2015) and the recently developed ACMG scoring system (Tavtigian et al 2020). This variant was found in trans with the heterozygous variant in G6PC1 (NM_000151.4:c.500G>A, p.Cys167Tyr); Wang 2013:22899091, Ki 2004:15151508, Shieh 2002:11739393" "Germline" "yes" "rs768803329" "0" "" "" "g.42909389C>T" "{CV:1682514}" "pathogenic (recessive)" "ACMG"
"0000987824" "2" "70" "17" "41061373" "41061373" "subst" "1.21822E-5" "04221" "G6PC_000065" "g.41061373G>A" "" "" "" "" "This variant was classified as per ACMG guidelines (Richards et al 2015) and the recently developed ACMG scoring system (Tavtigian et al 2020). This variant was found in trans with the heterozygous variant in G6PC1 (NM_000151.4:c.533C>T, p.Pro178Leu)." "Germline" "yes" "rs777552825" "0" "" "" "g.42909356G>A" "{CV:1682511}" "likely pathogenic (recessive)" "ACMG"
"0001015536" "0" "90" "17" "41063408" "41063408" "subst" "0.000203389" "02327" "G6PC_000002" "g.41063408C>T" "" "" "" "G6PC(NM_000151.2):c.1039C>T (p.Q347*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes G6PC
## Count = 114
"{{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}}"
"0000169207" "00008247" "00" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Leu61Phe)" ""
"0000169216" "00008247" "00" "96" "0" "97" "0" "c.96_97del" "r.(?)" "p.(Leu32Phefs*28)" ""
"0000250492" "00008247" "70" "788" "0" "788" "0" "c.788del" "r.(?)" "p.(Lys263ArgfsTer38)" ""
"0000255311" "00008247" "30" "231" "-4" "231" "-4" "c.231-4A>G" "r.spl?" "p.?" ""
"0000284449" "00008247" "30" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Leu46Phe)" ""
"0000284450" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000284451" "00008247" "10" "340" "10" "340" "10" "c.340+10C>A" "r.(=)" "p.(=)" ""
"0000284452" "00008247" "10" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Pro144=)" ""
"0000284453" "00008247" "90" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Arg170Ter)" ""
"0000342566" "00008247" "70" "884" "0" "884" "0" "c.884G>A" "r.(?)" "p.(Arg295His)" ""
"0000345817" "00008247" "90" "562" "0" "562" "0" "c.562G>C" "r.(?)" "p.(Gly188Arg)" ""
"0000408471" "00008247" "90" "-80" "0" "230" "19" "c.(?_-80)_(230+19_231-1)del" "r.0?" "p.0?" "_1_1i"
"0000499791" "00008247" "95" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "2"
"0000499792" "00008247" "55" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "2"
"0000499793" "00008247" "95" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" "2"
"0000499794" "00008247" "55" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" "3"
"0000499795" "00008247" "95" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" "3"
"0000499796" "00008247" "95" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" "3"
"0000499797" "00008247" "55" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Cys)" "5"
"0000499798" "00008247" "95" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Cys)" "5"
"0000499799" "00008247" "95" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" "5"
"0000499800" "00008247" "55" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" "5"
"0000561550" "00008247" "30" "340" "10" "340" "10" "c.340+10C>A" "r.(=)" "p.(=)" ""
"0000561551" "00008247" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(His199Tyr)" ""
"0000561552" "00008247" "30" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Val318=)" ""
"0000616562" "00008247" "70" "1012" "0" "1012" "0" "c.1012G>T" "r.(?)" "p.(Val338Phe)" ""
"0000649569" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000649570" "00008247" "90" "1022" "0" "1022" "0" "c.1022T>A" "r.(?)" "p.(Ile341Asn)" ""
"0000649571" "00008247" "50" "1819" "0" "1819" "0" "c.*745G>T" "r.(=)" "p.(=)" ""
"0000658120" "00008247" "90" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Trp70Ter)" ""
"0000658121" "00008247" "90" "562" "0" "562" "0" "c.562G>C" "r.(?)" "p.(Gly188Arg)" ""
"0000658122" "00008247" "30" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Val304Ile)" ""
"0000714821" "00008247" "90" "0" "0" "0" "0" "c.(340+1_341-1)_*3007{0}" "r.?" "p.?" "2i_5_"
"0000714822" "00008247" "90" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" ""
"0000714837" "00008247" "90" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" ""
"0000714867" "00008247" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" ""
"0000726375" "00008247" "30" "-77" "0" "-77" "0" "c.-77G>A" "r.(?)" "p.(=)" ""
"0000726376" "00008247" "90" "189" "0" "189" "0" "c.189G>A" "r.(?)" "p.(Trp63*)" ""
"0000726377" "00008247" "90" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Arg170Ter)" ""
"0000726378" "00008247" "30" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Pro334=)" ""
"0000807972" "00008247" "90" "79" "0" "79" "0" "c.79del" "r.(?)" "p.(Gln27ArgfsTer9)" ""
"0000807973" "00008247" "90" "113" "0" "113" "0" "c.113A>T" "r.(?)" "p.(Asp38Val)" ""
"0000807974" "00008247" "30" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Val304Ile)" ""
"0000807975" "00008247" "30" "948" "0" "948" "0" "c.948C>A" "r.(?)" "p.(Ser316=)" ""
"0000807976" "00008247" "90" "980" "0" "982" "0" "c.980_982del" "r.(?)" "p.(Phe327del)" ""
"0000807977" "00008247" "30" "1047" "0" "1047" "0" "c.1047G>T" "r.(?)" "p.(Leu349=)" ""
"0000829039" "00008247" "70" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000854899" "00008247" "30" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Leu303=)" ""
"0000865253" "00008247" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Tyr44=)" ""
"0000865254" "00008247" "50" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000865255" "00008247" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" ""
"0000865256" "00008247" "30" "1068" "0" "1068" "0" "c.1068G>A" "r.(?)" "p.(Ser356=)" ""
"0000874675" "00008247" "70" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000893584" "00008247" "90" "788" "0" "788" "0" "c.788del" "r.(?)" "p.(Lys263ArgfsTer38)" ""
"0000893585" "00008247" "90" "980" "0" "982" "0" "c.980_982del" "r.(?)" "p.(Phe327del)" ""
"0000893586" "00008247" "30" "1097" "0" "1097" "0" "c.*23T>C" "r.(=)" "p.(=)" ""
"0000906096" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000906154" "00008247" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" ""
"0000914823" "00008247" "90" "189" "0" "189" "0" "c.189G>A" "r.(?)" "p.(Trp63*)" ""
"0000914824" "00008247" "50" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Pro315Leu)" ""
"0000920166" "00008247" "90" "735" "0" "742" "0" "c.735_742delinsGCGAGCAG" "r.(?)" "p.(Cys245_Pro248delinsTrpArgAlaAla)" "5"
"0000920167" "00008247" "90" "809" "0" "809" "0" "c.809G>T" "r.(?)" "p.(Gly270Val)" "5"
"0000920168" "00008247" "90" "1034" "0" "1035" "0" "c.1034_1035inv" "r.(?)" "p.(Leu345Arg)" "5"
"0000920170" "00008247" "90" "79" "0" "79" "0" "c.79del" "r.(?)" "p.(Gln27Argfs*9)" "5"
"0000920172" "00008247" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Trp63*)" ""
"0000920173" "00008247" "90" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83His)" ""
"0000920174" "00008247" "90" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Gly188Ser)" ""
"0000920175" "00008247" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Pro178Ser)" ""
"0000920176" "00008247" "90" "706" "0" "706" "0" "c.706T>A" "r.(?)" "p.(Trp236Arg)" ""
"0000920177" "00008247" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Gln242*)" ""
"0000920461" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920462" "00008247" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" ""
"0000920463" "00008247" "90" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" ""
"0000920464" "00008247" "90" "980" "0" "982" "0" "c.980_982del" "r.(?)" "p.(Phe327del)" ""
"0000920465" "00008247" "90" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Cys)" ""
"0000920466" "00008247" "90" "664" "0" "664" "0" "c.664G>C" "r.(?)" "p.(Gly222Arg)" ""
"0000920468" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920469" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920470" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920471" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920472" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920473" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920474" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920475" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920476" "00008247" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" ""
"0000920477" "00008247" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" ""
"0000920478" "00008247" "90" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83His)" ""
"0000920479" "00008247" "90" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83His)" ""
"0000920511" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920512" "00008247" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" ""
"0000920513" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920514" "00008247" "90" "980" "0" "982" "0" "c.980_982del" "r.(?)" "p.(Phe327del)" ""
"0000920515" "00008247" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" ""
"0000920516" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920517" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920518" "00008247" "90" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" ""
"0000920519" "00008247" "90" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" ""
"0000920520" "00008247" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" ""
"0000920521" "00008247" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" ""
"0000920522" "00008247" "90" "664" "0" "664" "0" "c.664G>C" "r.(?)" "p.(Gly222Arg)" ""
"0000920523" "00008247" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Cys)" ""
"0000920524" "00008247" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" ""
"0000926481" "00008247" "30" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(Ser136=)" ""
"0000926482" "00008247" "30" "563" "-20" "563" "-20" "c.563-20T>A" "r.(=)" "p.(=)" ""
"0000926483" "00008247" "30" "992" "0" "992" "0" "c.992C>T" "r.(?)" "p.(Ala331Val)" ""
"0000950877" "00008247" "90" "809" "0" "809" "0" "c.809G>T" "r.(?)" "p.(Gly270Val)" ""
"0000954965" "00008247" "90" "79" "0" "79" "0" "c.79del" "r.(?)" "p.(Gln27ArgfsTer9)" ""
"0000955000" "00008247" "90" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83His)" ""
"0000987541" "00008247" "90" "379" "0" "380" "0" "c.379_380dup" "r.(?)" "p.(Tyr128Thrfs*3)" "3"
"0000987542" "00008247" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" "5"
"0000987819" "00008247" "90" "809" "0" "809" "0" "c.809G>T" "r.(?)" "p.(Gly270Val)" "5"
"0000987823" "00008247" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "4"
"0000987824" "00008247" "70" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Cys167Tyr)" "4"
"0001015536" "00008247" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 73
"{{screeningid}}" "{{variantid}}"
"0000104466" "0000169207"
"0000104475" "0000169216"
"0000184426" "0000408471"
"0000246957" "0000499791"
"0000246957" "0000499799"
"0000246958" "0000499792"
"0000246958" "0000499794"
"0000246958" "0000499797"
"0000246958" "0000499800"
"0000246959" "0000499793"
"0000246959" "0000499798"
"0000246960" "0000499795"
"0000246960" "0000499796"
"0000292880" "0000649569"
"0000292881" "0000649570"
"0000292882" "0000649571"
"0000330290" "0000714821"
"0000330291" "0000714822"
"0000330291" "0000714867"
"0000330306" "0000714837"
"0000397192" "0000829039"
"0000416547" "0000874675"
"0000428371" "0000906096"
"0000428371" "0000906154"
"0000434415" "0000920166"
"0000434417" "0000920167"
"0000434419" "0000920168"
"0000434420" "0000920170"
"0000434421" "0000920172"
"0000434422" "0000920173"
"0000434423" "0000920174"
"0000434424" "0000920175"
"0000434425" "0000920176"
"0000434426" "0000920177"
"0000434616" "0000920461"
"0000434617" "0000920462"
"0000434618" "0000920463"
"0000434619" "0000920464"
"0000434620" "0000920465"
"0000434621" "0000920466"
"0000434622" "0000920468"
"0000434623" "0000920469"
"0000434624" "0000920470"
"0000434625" "0000920471"
"0000434626" "0000920472"
"0000434627" "0000920473"
"0000434628" "0000920474"
"0000434628" "0000920476"
"0000434629" "0000920475"
"0000434629" "0000920477"
"0000434630" "0000920478"
"0000434631" "0000920479"
"0000434653" "0000920511"
"0000434654" "0000920512"
"0000434655" "0000920513"
"0000434655" "0000920514"
"0000434656" "0000920515"
"0000434656" "0000920516"
"0000434657" "0000920517"
"0000434657" "0000920518"
"0000434658" "0000920519"
"0000434658" "0000920520"
"0000434659" "0000920521"
"0000434659" "0000920522"
"0000434660" "0000920523"
"0000434660" "0000920524"
"0000446612" "0000954965"
"0000446612" "0000955000"
"0000453041" "0000987541"
"0000453041" "0000987542"
"0000453261" "0000987819"
"0000453264" "0000987823"
"0000453264" "0000987824"