### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PIK3R1)
# 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}}"
"PIK3R1" "phosphoinositide-3-kinase, regulatory subunit 1" "5" "q13.1" "unknown" "NG_012849.2" "UD_132118902472" "" "https://www.LOVD.nl/PIK3R1" "" "1" "8979" "5295" "171833" "1" "1" "1" "1" "We gratefully acknowledge the efforts of Gerard Schaafsma, curating this database until 2021.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PIK3R1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-06-27 16:00:00" "00000" "2025-11-01 13:22:20"
## 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}}"
"00024161" "PIK3R1" "transcript variant 1" "001" "NM_181523.2" "" "NP_852664.1" "" "" "" "-580" "6395" "2175" "67511584" "67597649" "00002" "2016-08-31 13:11:55" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{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"
"01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23"
"02070" "SHORT" "SHORT syndrome (SHORT)" "AD" "269880" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03854" "AGM7" "agammaglobulinemia, type 7, autosomal recessive (AGM7)" "AR" "615214" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04613" "IMD36" "immunodeficiency, type 36 (IMD-36)" "AD" "616005" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32"
"05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59"
"06844" "AUTSX4" "{Autism, susceptibility to, X-linked 4}" "XLR" "300830" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"PIK3R1" "02070"
"PIK3R1" "03854"
"PIK3R1" "04613"
## Individuals ## Do not remove or alter this header ##
## Count = 31
"{{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}}"
"00079886" "" "" "" "1" "" "01742" "{PMID:Chudasama 2013:23810379}" "" "" "" "" "" "0" "" "" "" ""
"00079888" "" "" "" "1" "" "01742" "{PMID:Dyment 2013:23810382}" "" "F" "" "" "" "0" "" "" "" ""
"00079890" "" "" "" "1" "" "01742" "{PMID:Dyment 2013:23810382}" "" "M" "" "" "" "0" "" "" "" ""
"00079891" "" "" "" "1" "" "01742" "{PMID:Bárcena 2014:24886349}" "" "M" "" "" "" "0" "" "" "" ""
"00079900" "" "" "" "1" "" "01742" "{PMID:Thauvin-Robinet 2013:23810378}" "" "" "" "" "" "0" "" "" "" ""
"00080193" "" "" "" "1" "" "00002" "{PMID:Baynes et al 2000:10768093}" "" "" "" "" "" "0" "" "" "" ""
"00293890" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00293891" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62"
"00307258" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "patient with retinoblastoma" "M" "" "Brazil" "" "0" "" "" "" "Patient 64"
"00319854" "" "" "" "1" "" "03820" "{PMID:Goncalves 2022:35080105}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Brazil" "" "0" "" "" "" "patient"
"00334481" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00410753" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat1"
"00410754" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat2"
"00410755" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat3"
"00410756" "" "" "" "1" "" "00006" "{PMID:Siegel 2018:29174369}, {PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "patient;Pat4"
"00410757" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat5"
"00410758" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat6"
"00410759" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat7"
"00410760" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat8"
"00410761" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat9"
"00410762" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat10"
"00410763" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat11"
"00410764" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat12"
"00410765" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat13"
"00410766" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat14"
"00410767" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat15"
"00410768" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat16"
"00410769" "" "" "" "1" "" "00006" "{PMID:Cottrell 2021:34040190}" "" "" "" "United States" "" "0" "" "" "" "Pat17"
"00419529" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9127"
"00433672" "" "" "" "1" "" "03544" "" "" "M" "" "" "" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 31
"{{individualid}}" "{{diseaseid}}"
"00079886" "02070"
"00079888" "02070"
"00079890" "02070"
"00079891" "02070"
"00079900" "00198"
"00080193" "00198"
"00293890" "00198"
"00293891" "00198"
"00307257" "01544"
"00307258" "01544"
"00319854" "02070"
"00334481" "05793"
"00410753" "00198"
"00410754" "00198"
"00410755" "00198"
"00410756" "00198"
"00410757" "00198"
"00410758" "00198"
"00410759" "00198"
"00410760" "00198"
"00410761" "00198"
"00410762" "00198"
"00410763" "00198"
"00410764" "00198"
"00410765" "00198"
"00410766" "00198"
"00410767" "00198"
"00410768" "00198"
"00410769" "00198"
"00419529" "00198"
"00433672" "06844"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01544, 02070, 03854, 04613, 05793, 06844
## Count = 29
"{{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}}"
"0000059757" "00198" "00080193" "00002" "Familial" "" "Diagnosis: severe insulin resistance" "" "" "" "" "" "" "" "" "" "" ""
"0000061388" "02070" "00079886" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000061389" "02070" "00079888" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000061390" "02070" "00079890" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000061391" "02070" "00079891" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000061392" "00198" "00079900" "01742" "Unknown" "" "Diagnosis: Insulin resistance, lipoatrophy" "" "" "" "" "" "" "" "" "" "" ""
"0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" ""
"0000233062" "01544" "00307258" "03753" "Unknown" "" "Bilateral" "" "00y15m" "HP:0000555" "" "" "" "" "" "" "" ""
"0000253194" "05793" "00334481" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000302844" "00198" "00410753" "00006" "Unknown" "10y" "no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; macrodactyly, sandal gap; fatty overgrowth" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302845" "00198" "00410754" "00006" "Unknown" "5y" "no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; macrodactyly, Leg length discrepancy, sandal gap; right congenital buphthalmos (congenital toxoplasmosis), right anterior segment dysgenesis with glaucoma, right microphthalmia" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302846" "00198" "00410755" "00006" "Unknown" "6y" "congenital malformation syndrome involving early overgrowth, concern for CLOVES" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302847" "00198" "00410756" "00006" "Unknown" "17y" "no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; leg length discrepancy" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302848" "00198" "00410757" "00006" "Unknown" "50y" "no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; macrodactyly, syndactyly; lipoma" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302849" "00198" "00410758" "00006" "Unknown" "12y" "developmental delay; capillary malformation; no lymphatic malformation; no venous malformation; overgrowth; no skeletal abnormalities" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302850" "00198" "00410759" "00006" "Unknown" "30y" "no developmental delay; capillary malformation; no lymphatic malformation; venous malformation; overgrowth; macrodactyly, sandal gap" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302851" "00198" "00410760" "00006" "Unknown" "59y" "no developmental delay; no capillary malformation; no lymphatic malformation; venous malformation; overgrowth; no skeletal abnormalities" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302852" "00198" "00410761" "00006" "Unknown" "21y" "no developmental delay; capillary malformation; no lymphatic malformation; venous malformation; overgrowth; no skeletal abnormalities" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302853" "00198" "00410762" "00006" "Unknown" "18y" "no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; no skeletal abnormalities; lipoma" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302854" "00198" "00410763" "00006" "Unknown" "51y" "no developmental delay; capillary malformation; no lymphatic malformation; venous malformation; overgrowth; leg length discrepancy" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302855" "00198" "00410764" "00006" "Unknown" "10y" "no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; no skeletal abnormalities; frontal bossing" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302856" "00198" "00410765" "00006" "Unknown" "1y" "reticulated port wine stain of left leg also affecting left side of scrotum; left leg hypoplastic; left testicular nubbin" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302857" "00198" "00410766" "00006" "Unknown" "2y" "suspected Klippel-Trenaunay syndrome" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302858" "00198" "00410767" "00006" "Unknown" "20y" "vascular nevus, hemihypertrophy" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302859" "00198" "00410768" "00006" "Unknown" "39y" "no developmental delay; capillary malformation; lymphatic malformation; venous malformation; overgrowth; no skeletal abnormalities" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000302860" "00198" "00410769" "00006" "Unknown" "15y" "suspected Klippel-Trenaunay syndrome; vascular malformation and lipoma of left foot" "" "" "" "" "" "" "" "" "" "vascular lesions, overgrowth" ""
"0000310810" "00198" "00419529" "02300" "Isolated (sporadic)" "2y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" ""
"0000318902" "02070" "00319854" "00006" "Isolated (sporadic)" "23y" "see paper; ..., short stature, ocular depression, Rieger anomaly, teething delay; facial hirsutism, blue sclera, small upslanting palpebral fissures, hypoplastic alae nasi, full cheeks, thin upper lips, large dysplastic ears, micrognathia" "" "" "" "" "" "" "" "" "SHORT" "SHORT syndrome" ""
"0000324095" "06844" "00433672" "03544" "Familial, X-linked recessive" "" "moderate intellectual disability, global developmental delay" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 31
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000079969" "00079886" "1" "01742" "01742" "2016-08-26 11:02:34" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000079971" "00079888" "1" "01742" "01742" "2016-08-26 11:38:38" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000079973" "00079890" "1" "01742" "01742" "2016-08-26 11:44:57" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000079974" "00079891" "1" "01742" "01742" "2016-08-26 11:48:43" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000079983" "00079900" "1" "01742" "01742" "2016-08-26 14:55:21" "00006" "2017-07-21 10:14:00" "?" "DNA" "" ""
"0000080286" "00080193" "1" "00002" "00002" "2008-02-20 00:00:00" "" "" "SSCA" "DNA" "" ""
"0000295058" "00293890" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295059" "00293891" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308400" "00307258" "1" "03753" "03753" "2020-08-07 03:26:45" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000321035" "00319854" "1" "03820" "03820" "2020-11-08 12:44:35" "" "" "SEQ-NG" "DNA" "" ""
"0000335710" "00334481" "1" "04011" "04011" "2021-03-01 03:42:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000412018" "00410753" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "affected tissue" ""
"0000412019" "00410754" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "affected tissue" ""
"0000412020" "00410755" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "excisional biopsy soft tissue mass" ""
"0000412021" "00410756" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "punch biopsy affected skin" ""
"0000412022" "00410757" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "punch biopsy affected skin" ""
"0000412023" "00410758" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "punch biopsy affected skin" ""
"0000412024" "00410759" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "excisional biopsy affected skin" ""
"0000412025" "00410760" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "punch biopsy affected skin" ""
"0000412026" "00410761" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "punch biopsy affected skin" ""
"0000412027" "00410762" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "punch biopsy affected skin" ""
"0000412028" "00410763" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "punch biopsy affected skin" ""
"0000412029" "00410764" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "punch biopsy affected skin" ""
"0000412030" "00410765" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "punch biopsy reticulated port wine stain" ""
"0000412031" "00410766" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "affected skin" ""
"0000412032" "00410767" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "punch biopsy port wine stain right forearm" ""
"0000412033" "00410768" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "punch biopsy affected skin" ""
"0000412034" "00410769" "1" "00006" "00006" "2022-05-30 13:58:45" "" "" "SEQ" "DNA" "excisional biopsy vascular malformation" ""
"0000420833" "00419529" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000435130" "00433672" "1" "03544" "03544" "2023-03-13 05:27:09" "" "" "SEQ-NG-I" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 23
"{{screeningid}}" "{{geneid}}"
"0000079969" "PIK3R1"
"0000079971" "PIK3R1"
"0000079973" "PIK3R1"
"0000079974" "PIK3R1"
"0000079983" "PIK3R1"
"0000080286" "PIK3R1"
"0000412018" "PIK3R1"
"0000412019" "PIK3R1"
"0000412020" "PIK3R1"
"0000412021" "PIK3R1"
"0000412022" "PIK3R1"
"0000412023" "PIK3R1"
"0000412024" "PIK3R1"
"0000412025" "PIK3R1"
"0000412026" "PIK3R1"
"0000412027" "PIK3R1"
"0000412028" "PIK3R1"
"0000412029" "PIK3R1"
"0000412030" "PIK3R1"
"0000412031" "PIK3R1"
"0000412032" "PIK3R1"
"0000412033" "PIK3R1"
"0000412034" "PIK3R1"
## 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 = 112
"{{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}}"
"0000128844" "0" "90" "5" "67592129" "67592129" "subst" "0" "01742" "PIK3R1_000004" "g.67592129C>T" "" "{PMID:Chudasama 2013:23810379}" "" "g.67594009C>T" "" "Germline" "" "" "0" "" "" "g.68296301C>T" "" "pathogenic" ""
"0000128846" "0" "90" "5" "67592090" "67592091" "ins" "0" "01742" "PIK3R1_000002" "g.67592090_67592091insC" "" "{PMID:Dyment 2013:23810382}" "" "g.67593970_67593971insC" "" "Germline" "" "" "0" "" "" "g.68296262_68296263insC" "" "pathogenic" ""
"0000128848" "0" "90" "5" "67592155" "67592155" "subst" "0" "01742" "PIK3R1_000005" "g.67592155T>G" "" "{PMID:Dyment 2013:23810382}" "" "g.67594035T>G" "" "Germline" "" "" "0" "" "" "g.68296327T>G" "" "pathogenic" ""
"0000128849" "0" "90" "5" "67592113" "67592117" "del" "0" "01742" "PIK3R1_000003" "g.67592113_67592117del" "" "{PMID:Bárcena 2014:24886349}" "" "g.67593993_67593997delTGGCA" "" "Germline" "?" "" "0" "" "" "g.68296285_68296289del" "" "pathogenic" ""
"0000128858" "0" "90" "5" "67592129" "67592129" "subst" "0" "01742" "PIK3R1_000004" "g.67592129C>T" "" "{PMID:Thauvin-Robinet 2013:23810378}" "" "g.67594009C>T" "" "Germline" "" "" "0" "" "" "g.68296301C>T" "" "pathogenic" ""
"0000129244" "1" "77" "5" "67589238" "67589238" "subst" "8.13101E-6" "00002" "PIK3R1_000001" "g.67589238G>A" "" "{PMID:Baynes et al 2000:10768093}" "" "" "" "Germline" "" "" "0" "" "" "g.68293410G>A" "" "likely pathogenic" ""
"0000255231" "0" "30" "5" "67576346" "67576346" "subst" "0" "01943" "PIK3R1_000007" "g.67576346A>T" "" "" "" "PIK3R1(NM_181523.2):c.635-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68280518A>T" "" "likely benign" ""
"0000300792" "0" "90" "5" "67589663" "67589663" "subst" "0" "02326" "PIK3R1_000013" "g.67589663G>A" "" "" "" "PIK3R1(NM_181523.3):c.1425+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68293835G>A" "" "pathogenic" ""
"0000305629" "0" "30" "5" "67588926" "67588926" "subst" "0.00031312" "01943" "PIK3R1_000011" "g.67588926C>T" "" "" "" "PIK3R1(NM_181523.2):c.1020-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68293098C>T" "" "likely benign" ""
"0000305630" "0" "50" "5" "67576370" "67576370" "subst" "8.97446E-5" "01943" "PIK3R1_000008" "g.67576370G>A" "" "" "" "PIK3R1(NM_181523.2):c.649G>A (p.E217K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68280542G>A" "" "VUS" ""
"0000330408" "0" "50" "5" "67569230" "67569230" "subst" "7.31279E-5" "01804" "PIK3R1_000006" "g.67569230C>T" "" "" "" "PIK3R1(NM_181523.2):c.347C>T (p.(Pro116Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68273402C>T" "" "VUS" ""
"0000330409" "0" "30" "5" "67576786" "67576786" "subst" "0" "01804" "PIK3R1_000009" "g.67576786A>G" "" "" "" "PIK3R1(NM_181523.2):c.868A>G (p.(Ile290Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68280958A>G" "" "likely benign" ""
"0000330410" "0" "50" "5" "67588084" "67588084" "subst" "0.000305328" "01804" "PIK3R1_000010" "g.67588084C>T" "" "" "" "PIK3R1(NM_001242466.1):c.-544C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68292256C>T" "" "VUS" ""
"0000330411" "0" "50" "5" "67588975" "67588975" "subst" "0" "01804" "PIK3R1_000012" "g.67588975T>C" "" "" "" "PIK3R1(NM_001242466.1):c.-24T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68293147T>C" "" "VUS" ""
"0000338611" "0" "90" "5" "67589663" "67589663" "subst" "0" "02327" "PIK3R1_000015" "g.67589663G>T" "" "" "" "PIK3R1(NM_181523.2):c.1425+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68293835G>T" "" "pathogenic" ""
"0000347813" "0" "30" "5" "67588148" "67588148" "subst" "0.177051" "02327" "PIK3R1_000014" "g.67588148G>A" "" "" "" "PIK3R1(NM_181523.3):c.978G>A (p.M326I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68292320G>A" "" "likely benign" ""
"0000525918" "0" "30" "5" "67522101" "67522101" "subst" "0" "02326" "PIK3R1_000016" "g.67522101G>A" "" "" "" "PIK3R1(NM_181523.3):c.-386-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68226273G>A" "" "likely benign" ""
"0000525919" "0" "30" "5" "67575425" "67575425" "subst" "4.09648E-6" "01943" "PIK3R1_000017" "g.67575425C>T" "" "" "" "PIK3R1(NM_181523.2):c.503-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68279597C>T" "" "likely benign" ""
"0000525920" "0" "50" "5" "67575490" "67575490" "subst" "0.000138125" "01943" "PIK3R1_000018" "g.67575490G>A" "" "" "" "PIK3R1(NM_181523.2):c.563G>A (p.R188H), PIK3R1(NM_181523.3):c.563G>A (p.(Arg188His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68279662G>A" "" "VUS" ""
"0000525921" "0" "30" "5" "67575569" "67575569" "subst" "0.000350086" "01943" "PIK3R1_000019" "g.67575569T>C" "" "" "" "PIK3R1(NM_181523.2):c.634+8T>C, PIK3R1(NM_181523.3):c.634+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68279741T>C" "" "likely benign" ""
"0000525924" "0" "30" "5" "67576748" "67576748" "subst" "0.00104327" "01943" "PIK3R1_000022" "g.67576748C>T" "" "" "" "PIK3R1(NM_181523.2):c.837-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68280920C>T" "" "likely benign" ""
"0000525925" "0" "30" "5" "67576748" "67576748" "subst" "0.00104327" "01804" "PIK3R1_000022" "g.67576748C>T" "" "" "" "PIK3R1(NM_181523.2):c.837-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68280920C>T" "" "likely benign" ""
"0000525926" "0" "90" "5" "67589664" "67589664" "subst" "0" "02326" "PIK3R1_000023" "g.67589664T>A" "" "" "" "PIK3R1(NM_181523.3):c.1425+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68293836T>A" "" "pathogenic" ""
"0000525927" "0" "50" "5" "67590478" "67590478" "subst" "0" "01943" "PIK3R1_000024" "g.67590478C>T" "" "" "" "PIK3R1(NM_181523.2):c.1540C>T (p.R514C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68294650C>T" "" "VUS" ""
"0000525928" "0" "30" "5" "67591040" "67591040" "subst" "4.06309E-6" "01943" "PIK3R1_000025" "g.67591040T>C" "" "" "" "PIK3R1(NM_181523.2):c.1633T>C (p.L545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68295212T>C" "" "likely benign" ""
"0000525929" "0" "30" "5" "67592104" "67592104" "subst" "0.000129956" "01943" "PIK3R1_000026" "g.67592104G>A" "" "" "" "PIK3R1(NM_181523.2):c.1920G>A (p.G640=), PIK3R1(NM_181523.3):c.1920G>A (p.G640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68296276G>A" "" "likely benign" ""
"0000609771" "0" "30" "5" "67569315" "67569315" "subst" "0.000634244" "01943" "PIK3R1_000028" "g.67569315C>A" "" "" "" "PIK3R1(NM_181523.2):c.427+5C>A, PIK3R1(NM_181523.3):c.427+5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68273487C>A" "" "likely benign" ""
"0000609772" "0" "30" "5" "67576408" "67576408" "subst" "0.00171542" "01943" "PIK3R1_000029" "g.67576408G>A" "" "" "" "PIK3R1(NM_181523.2):c.687G>A (p.S229=), PIK3R1(NM_181523.3):c.687G>A (p.(Ser229=), p.S229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68280580G>A" "" "likely benign" ""
"0000609773" "0" "50" "5" "67576437" "67576437" "subst" "0.000105645" "01943" "PIK3R1_000030" "g.67576437C>T" "" "" "" "PIK3R1(NM_181523.2):c.716C>T (p.T239M, p.(Thr239Met)), PIK3R1(NM_181523.3):c.716C>T (p.T239M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68280609C>T" "" "VUS" ""
"0000609774" "0" "70" "5" "67592132" "67592132" "subst" "0" "02327" "PIK3R1_000031" "g.67592132G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68296304G>T" "" "likely pathogenic" ""
"0000621585" "0" "30" "5" "67522752" "67522752" "subst" "2.84458E-5" "01943" "PIK3R1_000027" "g.67522752G>A" "" "" "" "PIK3R1(NM_181523.2):c.249G>A (p.S83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68226924G>A" "" "likely benign" ""
"0000651747" "1" "70" "5" "67589015" "67589015" "subst" "0" "03575" "PIK3R1_000032" "g.67589015C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs587784325}" "Germline" "" "rs587784325" "0" "" "" "g.68293187C>T" "" "likely pathogenic" ""
"0000651748" "1" "90" "5" "67592129" "67592129" "subst" "0" "03575" "PIK3R1_000004" "g.67592129C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs397515453}" "Germline" "" "rs397515453" "0" "" "" "g.68296301C>T" "" "pathogenic" ""
"0000655399" "0" "30" "5" "67522533" "67522533" "subst" "4.51512E-5" "01943" "PIK3R1_000033" "g.67522533G>A" "" "" "" "PIK3R1(NM_181523.2):c.30G>A (p.A10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68226705G>A" "" "likely benign" ""
"0000655400" "0" "50" "5" "67576457" "67576457" "subst" "0" "01943" "PIK3R1_000034" "g.67576457C>T" "" "" "" "PIK3R1(NM_181523.2):c.736C>T (p.H246Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68280629C>T" "" "VUS" ""
"0000655401" "0" "50" "5" "67586574" "67586574" "subst" "0.000203664" "02327" "PIK3R1_000035" "g.67586574G>T" "" "" "" "PIK3R1(NM_181504.3):c.18G>T (p.W6C, p.(Trp6Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68290746G>T" "" "VUS" ""
"0000655402" "0" "50" "5" "67586631" "67586631" "subst" "0" "02327" "PIK3R1_000036" "g.67586631C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68290803C>G" "" "VUS" ""
"0000655403" "0" "70" "5" "67589313" "67589313" "subst" "0" "01943" "PIK3R1_000037" "g.67589313T>A" "" "" "" "PIK3R1(NM_181523.2):c.1299+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68293485T>A" "" "likely pathogenic" ""
"0000677534" "0" "70" "5" "67591099" "67591099" "subst" "0" "02327" "PIK3R1_000040" "g.67591099C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000682745" "0" "70" "5" "67588175" "67588175" "subst" "0" "03753" "PIK3R1_000038" "g.67588175G>A" "0.051" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "0" "" "" "g.68292347G>A" "" "pathogenic" "ACMG"
"0000682757" "0" "70" "5" "67591007" "67591007" "subst" "0" "03753" "PIK3R1_000039" "g.67591007C>T" "0.047" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "0" "" "" "g.68295179C>T" "" "pathogenic" "ACMG"
"0000689538" "0" "30" "5" "67589182" "67589182" "subst" "0.00047978" "01943" "PIK3R1_000041" "g.67589182T>C" "" "" "" "PIK3R1(NM_181523.2):c.1170T>C (p.Y390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000703801" "0" "70" "5" "67590394" "67590394" "subst" "0" "03820" "PIK3R1_000042" "g.67590394G>A" "" "{PMID:Goncalves 2022:35080105}" "" "" "" "De novo" "" "" "0" "" "" "g.68294566G>A" "" "pathogenic (dominant)" ""
"0000720475" "0" "50" "5" "67569229" "67569229" "subst" "1.62504E-5" "01804" "PIK3R1_000043" "g.67569229C>A" "" "" "" "PIK3R1(NM_181523.2):c.346C>A (p.(Pro116Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000720476" "0" "50" "5" "67575431" "67575431" "subst" "3.2541E-5" "01943" "PIK3R1_000044" "g.67575431T>A" "" "" "" "PIK3R1(NM_181523.2):c.504T>A (p.D168E, p.(Asp168Glu)), PIK3R1(NM_181523.3):c.504T>A (p.D168E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000720477" "0" "30" "5" "67575498" "67575498" "subst" "0.00111712" "01943" "PIK3R1_000045" "g.67575498C>T" "" "" "" "PIK3R1(NM_181523.2):c.571C>T (p.L191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000720478" "0" "30" "5" "67588145" "67588145" "subst" "1.21869E-5" "01943" "PIK3R1_000046" "g.67588145T>A" "" "" "" "PIK3R1(NM_181523.2):c.975T>A (p.N325K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000734444" "0" "70" "5" "67575489" "67575489" "subst" "2.43742E-5" "04011" "PIK3R1_000047" "g.67575489C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000802158" "0" "30" "5" "67569315" "67569315" "subst" "0.000634244" "02326" "PIK3R1_000028" "g.67569315C>A" "" "" "" "PIK3R1(NM_181523.2):c.427+5C>A, PIK3R1(NM_181523.3):c.427+5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000802159" "0" "30" "5" "67576408" "67576408" "subst" "0.00171542" "02326" "PIK3R1_000029" "g.67576408G>A" "" "" "" "PIK3R1(NM_181523.2):c.687G>A (p.S229=), PIK3R1(NM_181523.3):c.687G>A (p.(Ser229=), p.S229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000802160" "0" "50" "5" "67589217" "67589217" "subst" "0" "01943" "PIK3R1_000048" "g.67589217T>C" "" "" "" "PIK3R1(NM_181523.2):c.1205T>C (p.V402A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000802161" "0" "50" "5" "67591092" "67591092" "subst" "0" "01943" "PIK3R1_000049" "g.67591092G>A" "" "" "" "PIK3R1(NM_181523.2):c.1685G>A (p.R562H, p.(Arg562His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000850942" "0" "50" "5" "67522808" "67522808" "subst" "0.000240997" "01943" "PIK3R1_000051" "g.67522808C>T" "" "" "" "PIK3R1(NM_181523.2):c.305C>T (p.S102L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000850943" "0" "50" "5" "67576437" "67576437" "subst" "0.000105645" "02325" "PIK3R1_000030" "g.67576437C>T" "" "" "" "PIK3R1(NM_181523.2):c.716C>T (p.T239M, p.(Thr239Met)), PIK3R1(NM_181523.3):c.716C>T (p.T239M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000850944" "0" "30" "5" "67589197" "67589197" "subst" "0.000439035" "01943" "PIK3R1_000055" "g.67589197A>G" "" "" "" "PIK3R1(NM_181523.2):c.1185A>G (p.P395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850945" "0" "50" "5" "67591997" "67591997" "subst" "0" "01943" "PIK3R1_000056" "g.67591997A>G" "" "" "" "PIK3R1(NM_181523.2):c.1815-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000859983" "0" "30" "5" "67522713" "67522713" "subst" "9.7515E-5" "01943" "PIK3R1_000050" "g.67522713G>A" "" "" "" "PIK3R1(NM_181523.2):c.210G>A (p.P70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000859984" "0" "10" "5" "67575548" "67575548" "subst" "0.0357021" "01804" "PIK3R1_000052" "g.67575548T>C" "" "" "" "PIK3R1(NM_181523.2):c.621T>C (p.(Ile207=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000859985" "0" "30" "5" "67575569" "67575569" "subst" "0.000350086" "02326" "PIK3R1_000019" "g.67575569T>C" "" "" "" "PIK3R1(NM_181523.2):c.634+8T>C, PIK3R1(NM_181523.3):c.634+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000859986" "0" "30" "5" "67576564" "67576564" "subst" "0" "01943" "PIK3R1_000053" "g.67576564G>A" "" "" "" "PIK3R1(NM_181523.2):c.836+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000859987" "0" "50" "5" "67586560" "67586560" "subst" "0" "01943" "PIK3R1_000054" "g.67586560T>A" "" "" "" "PIK3R1(NM_181504.3):c.4T>A (p.Y2N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000859988" "0" "50" "5" "67586574" "67586574" "subst" "0.000203664" "01943" "PIK3R1_000035" "g.67586574G>T" "" "" "" "PIK3R1(NM_181504.3):c.18G>T (p.W6C, p.(Trp6Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000859989" "0" "70" "5" "67592076" "67592076" "subst" "0" "02327" "PIK3R1_000057" "g.67592076G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000869275" "0" "90" "5" "67591097" "67591097" "subst" "0" "00006" "PIK3R1_000063" "g.67591097A>G" "" "{PMID:Cottrell 2021:34040190}" "" "" "frequency 0.398 (1224 reads)" "Somatic" "" "" "0" "" "" "g.68295269A>G" "" "pathogenic" ""
"0000869276" "0" "90" "5" "67591097" "67591097" "subst" "0" "00006" "PIK3R1_000063" "g.67591097A>G" "" "{PMID:Cottrell 2021:34040190}" "" "" "frequency 0.24 (321 reads)" "Somatic" "" "" "0" "" "" "g.68295269A>G" "" "pathogenic" ""
"0000869277" "0" "90" "5" "67591097" "67591097" "subst" "0" "00006" "PIK3R1_000063" "g.67591097A>G" "" "{PMID:Cottrell 2021:34040190}" "" "" "frequency 0.034 (1980 reads)" "Somatic" "" "" "0" "" "" "g.68295269A>G" "" "pathogenic" ""
"0000869278" "0" "90" "5" "67591106" "67591106" "subst" "0" "00006" "PIK3R1_000064" "g.67591106A>G" "" "{PMID:Siegel 2018:29174369}, {PMID:Cottrell 2021:34040190}" "" "" "frequency 0.041 (2675 reads)" "Somatic" "" "" "0" "" "" "g.68295278A>G" "" "pathogenic" ""
"0000869279" "0" "90" "5" "67591142" "67591147" "del" "0" "00006" "PIK3R1_000065" "g.67591142_67591147del" "" "{PMID:Cottrell 2021:34040190}" "" "c.1735_1740delCAATAC" "frequency 0.133 (1832 reads)" "Somatic" "" "" "0" "" "" "g.68295314_68295319del" "" "pathogenic" ""
"0000869280" "0" "90" "5" "67591242" "67591253" "del" "0" "00006" "PIK3R1_000059" "g.67591242_67591253del" "" "{PMID:Cottrell 2021:34040190}" "" "c.1746-6_1751delTTTCAGGTGGTT" "frequency 0.031 (4205 reads)" "Somatic" "" "" "0" "" "" "g.68295414_68295425del" "" "pathogenic" ""
"0000869281" "0" "90" "5" "67591243" "67591250" "del" "0" "00006" "PIK3R1_000058" "g.67591243_67591250del" "" "{PMID:Cottrell 2021:34040190}" "" "c.1746-5_1748delTTCAGGTG" "frequency 0.059 (1174 reads)" "Somatic" "" "" "0" "" "" "g.68295415_68295422del" "" "pathogenic" ""
"0000869282" "0" "90" "5" "67591250" "67591252" "del" "0" "00006" "PIK3R1_000066" "g.67591250_67591252del" "" "{PMID:Cottrell 2021:34040190}" "" "c.1748_1750delGGT" "frequency 0.014 (2886 reads)" "Somatic" "" "" "0" "" "" "g.68295422_68295424del" "" "pathogenic" ""
"0000869283" "0" "90" "5" "67591106" "67591106" "subst" "0" "00006" "PIK3R1_000064" "g.67591106A>G" "" "{PMID:Cottrell 2021:34040190}" "" "" "frequency 0.023 (2737 reads)" "Somatic" "" "" "0" "" "" "g.68295278A>G" "" "pathogenic" ""
"0000869284" "0" "90" "5" "67591097" "67591097" "subst" "0" "00006" "PIK3R1_000063" "g.67591097A>G" "" "{PMID:Cottrell 2021:34040190}" "" "" "frequency 0.028 (2779 reads)" "Somatic" "" "" "0" "" "" "g.68295269A>G" "" "pathogenic" ""
"0000869285" "0" "90" "5" "67591106" "67591106" "subst" "0" "00006" "PIK3R1_000064" "g.67591106A>G" "" "{PMID:Cottrell 2021:34040190}" "" "" "frequency 0.011 (1425 reads)" "Somatic" "" "" "0" "" "" "g.68295278A>G" "" "pathogenic" ""
"0000869286" "0" "90" "5" "67591097" "67591097" "subst" "0" "00006" "PIK3R1_000063" "g.67591097A>G" "" "{PMID:Cottrell 2021:34040190}" "" "" "frequency 0.022 (4159 reads)" "Somatic" "" "" "0" "" "" "g.68295269A>G" "" "pathogenic" ""
"0000869287" "0" "90" "5" "67589138" "67589138" "subst" "0" "00006" "PIK3R1_000060" "g.67589138G>A" "" "{PMID:Cottrell 2021:34040190}" "" "" "frequency 0.029 (2772 reads)" "Somatic" "" "" "0" "" "" "g.68293310G>A" "" "pathogenic" ""
"0000869288" "0" "70" "5" "67589629" "67589640" "del" "0" "00006" "PIK3R1_000062" "g.67589629_67589640del" "" "{PMID:Cottrell 2021:34040190}" "" "c.1392_1403delTAGATTATATGA" "frequency 0.015 (1290 reads)" "Somatic" "" "" "0" "" "" "g.68293801_68293812del" "" "likely pathogenic" ""
"0000869289" "0" "90" "5" "67591250" "67591252" "del" "0" "00006" "PIK3R1_000066" "g.67591250_67591252del" "" "{PMID:Cottrell 2021:34040190}" "" "c.1748_1750delGGT" "frequency 0.022 (3317 reads)" "Somatic" "" "" "0" "" "" "g.68295422_68295424del" "" "pathogenic" ""
"0000869290" "0" "90" "5" "67591097" "67591097" "subst" "0" "00006" "PIK3R1_000063" "g.67591097A>G" "" "{PMID:Cottrell 2021:34040190}" "" "" "frequency 0.018 (6616 reads)" "Somatic" "" "" "0" "" "" "g.68295269A>G" "" "pathogenic" ""
"0000869291" "0" "70" "5" "67589592" "67589602" "delins" "0" "00006" "PIK3R1_000061" "g.67589592_67589602delinsTTCAAGAAAAAAGTTTCTTGAAA" "" "{PMID:Cottrell 2021:34040190}" "" "" "frequency 0.064 (1086 reads)" "Somatic" "" "" "0" "" "" "g.68293764_68293774delinsTTCAAGAAAAAAGTTTCTTGAAA" "" "likely pathogenic" ""
"0000881192" "0" "90" "5" "67592129" "67592129" "subst" "0" "02300" "PIK3R1_000004" "g.67592129C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS2, PS3, PM1, PM2, PP3, PP5" "De novo" "" "rs397515453" "0" "" "" "g.68296301C>T" "" "pathogenic (dominant)" "ACMG"
"0000886899" "0" "50" "5" "67576535" "67576535" "subst" "0" "02325" "PIK3R1_000067" "g.67576535C>T" "" "" "" "PIK3R1(NM_181523.3):c.814C>T (p.L272F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000886900" "0" "10" "5" "67588148" "67588148" "subst" "0.177051" "02330" "PIK3R1_000014" "g.67588148G>A" "" "" "" "PIK3R1(NM_181523.3):c.978G>A (p.M326I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000886901" "0" "10" "5" "67589188" "67589188" "subst" "0.0568884" "02330" "PIK3R1_000068" "g.67589188C>T" "" "" "" "PIK3R1(NM_181523.3):c.1176C>T (p.F392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000912354" "0" "30" "5" "67575513" "67575513" "subst" "0" "02326" "PIK3R1_000069" "g.67575513C>T" "" "" "" "PIK3R1(NM_181523.3):c.586C>T (p.P196S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000912355" "0" "30" "5" "67592104" "67592104" "subst" "0.000129956" "02326" "PIK3R1_000026" "g.67592104G>A" "" "" "" "PIK3R1(NM_181523.2):c.1920G>A (p.G640=), PIK3R1(NM_181523.3):c.1920G>A (p.G640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000912356" "0" "30" "5" "67593394" "67593394" "subst" "4.06395E-6" "02326" "PIK3R1_000070" "g.67593394C>T" "" "" "" "PIK3R1(NM_181523.3):c.2140C>T (p.L714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000921070" "0" "50" "5" "67591100" "67591100" "subst" "0" "03544" "PIK3R1_000071" "g.67591100A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000924369" "0" "50" "5" "67575431" "67575431" "subst" "3.2541E-5" "02329" "PIK3R1_000044" "g.67575431T>A" "" "" "" "PIK3R1(NM_181523.2):c.504T>A (p.D168E, p.(Asp168Glu)), PIK3R1(NM_181523.3):c.504T>A (p.D168E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000924370" "0" "30" "5" "67576763" "67576763" "subst" "0" "01804" "PIK3R1_000072" "g.67576763A>G" "" "" "" "PIK3R1(NM_181523.2):c.845A>G (p.(Asn282Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000976835" "0" "30" "5" "67568094" "67568095" "ins" "0" "01804" "PIK3R1_000073" "g.67568094_67568095insGA" "" "" "" "PIK3R1(NM_181523.3):c.335-1124_335-1123insGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000976836" "0" "50" "5" "67576422" "67576422" "subst" "2.43791E-5" "01804" "PIK3R1_000074" "g.67576422A>G" "" "" "" "PIK3R1(NM_181523.3):c.701A>G (p.(His234Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000976837" "0" "30" "5" "67593363" "67593363" "subst" "0.0114343" "01804" "PIK3R1_000075" "g.67593363T>C" "" "" "" "PIK3R1(NM_181523.3):c.2109T>C (p.L703=, p.(Leu703=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000995136" "0" "30" "5" "67575431" "67575431" "subst" "3.2541E-5" "01804" "PIK3R1_000044" "g.67575431T>A" "" "" "" "PIK3R1(NM_181523.2):c.504T>A (p.D168E, p.(Asp168Glu)), PIK3R1(NM_181523.3):c.504T>A (p.D168E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000995137" "0" "50" "5" "67575522" "67575522" "subst" "0" "01804" "PIK3R1_000076" "g.67575522C>T" "" "" "" "PIK3R1(NM_181523.2):c.595C>T (p.(Pro199Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995138" "0" "50" "5" "67576437" "67576437" "subst" "0.000105645" "01804" "PIK3R1_000030" "g.67576437C>T" "" "" "" "PIK3R1(NM_181523.2):c.716C>T (p.T239M, p.(Thr239Met)), PIK3R1(NM_181523.3):c.716C>T (p.T239M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995139" "0" "50" "5" "67586574" "67586574" "subst" "0.000203664" "01804" "PIK3R1_000035" "g.67586574G>T" "" "" "" "PIK3R1(NM_181504.3):c.18G>T (p.W6C, p.(Trp6Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995140" "0" "50" "5" "67588923" "67588927" "del" "0" "01804" "PIK3R1_000077" "g.67588923_67588927del" "" "" "" "PIK3R1(NM_181523.2):c.1020-6_1020-2delTTTCA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995141" "0" "90" "5" "67589663" "67589663" "subst" "0" "01804" "PIK3R1_000015" "g.67589663G>T" "" "" "" "PIK3R1(NM_181523.2):c.1425+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000995142" "0" "50" "5" "67591092" "67591092" "subst" "0" "01804" "PIK3R1_000049" "g.67591092G>A" "" "" "" "PIK3R1(NM_181523.2):c.1685G>A (p.R562H, p.(Arg562His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001025118" "0" "50" "5" "67591018" "67591018" "subst" "4.06256E-6" "02325" "PIK3R1_000078" "g.67591018A>C" "" "" "" "PIK3R1(NM_181523.3):c.1611A>C (p.E537D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001025119" "0" "70" "5" "67591246" "67591246" "subst" "0" "02330" "PIK3R1_000079" "g.67591246A>G" "" "" "" "PIK3R1(NM_181523.3):c.1746-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001025120" "0" "10" "5" "67593363" "67593363" "subst" "0.0114343" "02330" "PIK3R1_000075" "g.67593363T>C" "" "" "" "PIK3R1(NM_181523.3):c.2109T>C (p.L703=, p.(Leu703=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001035286" "0" "50" "5" "67522751" "67522751" "subst" "4.06355E-6" "01804" "PIK3R1_000080" "g.67522751C>T" "" "" "" "PIK3R1(NM_181523.3):c.248C>T (p.(Ser83Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035287" "0" "30" "5" "67522844" "67522844" "subst" "8.73012E-6" "01804" "PIK3R1_000081" "g.67522844A>G" "" "" "" "PIK3R1(NM_181523.3):c.334+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035288" "0" "50" "5" "67575490" "67575490" "subst" "0.000138125" "01804" "PIK3R1_000018" "g.67575490G>A" "" "" "" "PIK3R1(NM_181523.2):c.563G>A (p.R188H), PIK3R1(NM_181523.3):c.563G>A (p.(Arg188His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035289" "0" "50" "5" "67589652" "67589652" "subst" "0" "01804" "PIK3R1_000082" "g.67589652G>A" "" "" "" "PIK3R1(NM_181523.3):c.1415G>A (p.(Arg472His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035290" "0" "50" "5" "67590388" "67590388" "subst" "0" "01804" "PIK3R1_000083" "g.67590388A>G" "" "" "" "PIK3R1(NM_181523.3):c.1450A>G (p.(Ile484Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001051984" "0" "30" "5" "67576408" "67576408" "subst" "0.00171542" "01804" "PIK3R1_000029" "g.67576408G>A" "" "" "" "PIK3R1(NM_181523.2):c.687G>A (p.S229=), PIK3R1(NM_181523.3):c.687G>A (p.(Ser229=), p.S229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001051985" "0" "30" "5" "67591135" "67591135" "subst" "0.000154357" "01804" "PIK3R1_000084" "g.67591135G>A" "" "" "" "PIK3R1(NM_181523.3):c.1728G>A (p.(Thr576=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001051986" "0" "30" "5" "67593237" "67593237" "subst" "0" "01804" "PIK3R1_000085" "g.67593237T>C" "" "" "" "PIK3R1(NM_181523.3):c.1986-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001051987" "0" "50" "5" "67593308" "67593308" "subst" "0" "01804" "PIK3R1_000086" "g.67593308A>G" "" "" "" "PIK3R1(NM_181523.3):c.2054A>G (p.(Tyr685Cys))" "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 PIK3R1
## Count = 112
"{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "{{VariantOnTranscript/VariO/DNA}}" "{{VariantOnTranscript/VariO/Protein}}" "{{VariantOnTranscript/VariO/RNA}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "{{VariantOnTranscript/mRNA_level}}" "{{VariantOnTranscript/Protein_level}}"
"0000128844" "00024161" "90" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649Trp)" "15" "" "" "" "" "" "" ""
"0000128846" "00024161" "90" "1906" "0" "1907" "0" "c.1906_1907insC" "r.(?)" "p.(Asn636Thrfs*18)" "15" "" "" "" "" "" "" ""
"0000128848" "00024161" "90" "1971" "0" "1971" "0" "c.1971T>G" "r.(?)" "p.(Tyr657*)" "" "" "" "" "" "" "" ""
"0000128849" "00024161" "90" "1929" "0" "1933" "0" "c.1929_1933del" "r.(?)" "p.(Gly644Phefs*8)" "15" "" "" "" "" "" "" ""
"0000128858" "00024161" "90" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649Trp)" "15" "" "" "" "" "" "" ""
"0000129244" "00024161" "77" "1226" "0" "1226" "0" "c.1226G>A" "r.(1226g>a)" "p.(Arg409Gln)" "9" "SH2_1" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "amino acid substitution (VariO:0021)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308)" "" "" ""
"0000255231" "00024161" "30" "635" "-10" "635" "-10" "c.635-10A>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000300792" "00024161" "90" "1425" "1" "1425" "1" "c.1425+1G>A" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000305629" "00024161" "30" "1020" "-3" "1020" "-3" "c.1020-3C>T" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000305630" "00024161" "50" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Glu217Lys)" "" "" "" "" "" "" "" ""
"0000330408" "00024161" "50" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.(Pro116Leu)" "" "" "" "" "" "" "" ""
"0000330409" "00024161" "30" "868" "0" "868" "0" "c.868A>G" "r.(?)" "p.(Ile290Val)" "" "" "" "" "" "" "" ""
"0000330410" "00024161" "50" "917" "-3" "917" "-3" "c.917-3C>T" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000330411" "00024161" "50" "1066" "0" "1066" "0" "c.1066T>C" "r.(?)" "p.(Leu356=)" "" "" "" "" "" "" "" ""
"0000338611" "00024161" "90" "1425" "1" "1425" "1" "c.1425+1G>T" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000347813" "00024161" "30" "978" "0" "978" "0" "c.978G>A" "r.(?)" "p.(Met326Ile)" "" "" "" "" "" "" "" ""
"0000525918" "00024161" "30" "-386" "-17" "-386" "-17" "c.-386-17G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000525919" "00024161" "30" "503" "-5" "503" "-5" "c.503-5C>T" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000525920" "00024161" "50" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188His)" "" "" "" "" "" "" "" ""
"0000525921" "00024161" "30" "634" "8" "634" "8" "c.634+8T>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000525924" "00024161" "30" "837" "-7" "837" "-7" "c.837-7C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000525925" "00024161" "30" "837" "-7" "837" "-7" "c.837-7C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000525926" "00024161" "90" "1425" "2" "1425" "2" "c.1425+2T>A" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000525927" "00024161" "50" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514Cys)" "" "" "" "" "" "" "" ""
"0000525928" "00024161" "30" "1633" "0" "1633" "0" "c.1633T>C" "r.(?)" "p.(Leu545=)" "" "" "" "" "" "" "" ""
"0000525929" "00024161" "30" "1920" "0" "1920" "0" "c.1920G>A" "r.(?)" "p.(Gly640=)" "" "" "" "" "" "" "" ""
"0000609771" "00024161" "30" "427" "5" "427" "5" "c.427+5C>A" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000609772" "00024161" "30" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Ser229=)" "" "" "" "" "" "" "" ""
"0000609773" "00024161" "50" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "" "" "" "" "" "" ""
"0000609774" "00024161" "70" "1948" "0" "1948" "0" "c.1948G>T" "r.(?)" "p.(Glu650Ter)" "" "" "" "" "" "" "" ""
"0000621585" "00024161" "30" "249" "0" "249" "0" "c.249G>A" "r.(?)" "p.(Ser83=)" "" "" "" "" "" "" "" ""
"0000651747" "00024161" "70" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Thr369Ile)" "" "" "" "" "" "" "" ""
"0000651748" "00024161" "90" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649Trp)" "" "" "" "" "" "" "" ""
"0000655399" "00024161" "30" "30" "0" "30" "0" "c.30G>A" "r.(?)" "p.(Ala10=)" "" "" "" "" "" "" "" ""
"0000655400" "00024161" "50" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(His246Tyr)" "" "" "" "" "" "" "" ""
"0000655401" "00024161" "50" "917" "-1513" "917" "-1513" "c.917-1513G>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000655402" "00024161" "50" "917" "-1456" "917" "-1456" "c.917-1456C>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000655403" "00024161" "70" "1299" "2" "1299" "2" "c.1299+2T>A" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000677534" "00024161" "70" "1692" "0" "1692" "0" "c.1692C>G" "r.(?)" "p.(Asn564Lys)" "" "" "" "" "" "" "" ""
"0000682745" "00024161" "70" "1005" "0" "1005" "0" "c.1005G>A" "r.(1005g>a)" "p.(Trp335*)" "" "" "DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);nonsense variation (VariO:0310)" "" "" ""
"0000682757" "00024161" "70" "1600" "0" "1600" "0" "c.1600C>T" "r.(1600c>u)" "p.(Arg534*)" "" "" "DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314)" "protein truncation (VariO:0015)" "RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310)" "" "" ""
"0000689538" "00024161" "30" "1170" "0" "1170" "0" "c.1170T>C" "r.(?)" "p.(Tyr390=)" "" "" "" "" "" "" "" ""
"0000703801" "00024161" "70" "1456" "0" "1456" "0" "c.1456G>A" "r.(?)" "p.(Ala486Thr)" "" "" "" "" "" "" "" ""
"0000720475" "00024161" "50" "346" "0" "346" "0" "c.346C>A" "r.(?)" "p.(Pro116Thr)" "" "" "" "" "" "" "" ""
"0000720476" "00024161" "50" "504" "0" "504" "0" "c.504T>A" "r.(?)" "p.(Asp168Glu)" "" "" "" "" "" "" "" ""
"0000720477" "00024161" "30" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Leu191=)" "" "" "" "" "" "" "" ""
"0000720478" "00024161" "30" "975" "0" "975" "0" "c.975T>A" "r.(?)" "p.(Asn325Lys)" "" "" "" "" "" "" "" ""
"0000734444" "00024161" "50" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Cys)" "" "" "" "" "" "" "" ""
"0000802158" "00024161" "30" "427" "5" "427" "5" "c.427+5C>A" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000802159" "00024161" "30" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Ser229=)" "" "" "" "" "" "" "" ""
"0000802160" "00024161" "50" "1205" "0" "1205" "0" "c.1205T>C" "r.(?)" "p.(Val402Ala)" "" "" "" "" "" "" "" ""
"0000802161" "00024161" "50" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Arg562His)" "" "" "" "" "" "" "" ""
"0000850942" "00024161" "50" "305" "0" "305" "0" "c.305C>T" "r.(?)" "p.(Ser102Leu)" "" "" "" "" "" "" "" ""
"0000850943" "00024161" "50" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "" "" "" "" "" "" ""
"0000850944" "00024161" "30" "1185" "0" "1185" "0" "c.1185A>G" "r.(?)" "p.(Pro395=)" "" "" "" "" "" "" "" ""
"0000850945" "00024161" "50" "1815" "-2" "1815" "-2" "c.1815-2A>G" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000859983" "00024161" "30" "210" "0" "210" "0" "c.210G>A" "r.(?)" "p.(Pro70=)" "" "" "" "" "" "" "" ""
"0000859984" "00024161" "10" "621" "0" "621" "0" "c.621T>C" "r.(?)" "p.(Ile207=)" "" "" "" "" "" "" "" ""
"0000859985" "00024161" "30" "634" "8" "634" "8" "c.634+8T>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000859986" "00024161" "30" "836" "7" "836" "7" "c.836+7G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000859987" "00024161" "50" "917" "-1527" "917" "-1527" "c.917-1527T>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000859988" "00024161" "50" "917" "-1513" "917" "-1513" "c.917-1513G>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000859989" "00024161" "70" "1892" "0" "1892" "0" "c.1892G>A" "r.(?)" "p.(Arg631Gln)" "" "" "" "" "" "" "" ""
"0000869275" "00024161" "90" "1690" "0" "1690" "0" "c.1690A>G" "r.(?)" "p.(Asn564Asp)" "" "" "" "" "" "" "" ""
"0000869276" "00024161" "90" "1690" "0" "1690" "0" "c.1690A>G" "r.(?)" "p.(Asn564Asp)" "" "" "" "" "" "" "" ""
"0000869277" "00024161" "90" "1690" "0" "1690" "0" "c.1690A>G" "r.(?)" "p.(Asn564Asp)" "" "" "" "" "" "" "" ""
"0000869278" "00024161" "90" "1699" "0" "1699" "0" "c.1699A>G" "r.(?)" "p.(Lys567Glu)" "" "" "" "" "" "" "" ""
"0000869279" "00024161" "90" "1735" "0" "1740" "0" "c.1735_1740del" "r.(?)" "p.(Gln579_Tyr580del)" "" "" "" "" "" "" "" ""
"0000869280" "00024161" "90" "1746" "-6" "1751" "0" "c.1746-6_1751del" "r.spl" "p.(Met582_Asp605delinsIle)" "" "" "" "" "" "" "" ""
"0000869281" "00024161" "90" "1746" "-5" "1748" "0" "c.1746-5_1748del" "r.spl" "p.(Met582_Asp605delinsIle)" "" "" "" "" "" "" "" ""
"0000869282" "00024161" "90" "1748" "0" "1750" "0" "c.1748_1750del" "r.spl" "p.(Met582_Asp605delinsIle)" "" "" "" "" "" "" "" ""
"0000869283" "00024161" "90" "1699" "0" "1699" "0" "c.1699A>G" "r.(?)" "p.(Lys567Glu)" "" "" "" "" "" "" "" ""
"0000869284" "00024161" "90" "1690" "0" "1690" "0" "c.1690A>G" "r.(?)" "p.(Asn564Asp)" "" "" "" "" "" "" "" ""
"0000869285" "00024161" "90" "1699" "0" "1699" "0" "c.1699A>G" "r.(?)" "p.(Lys567Glu)" "" "" "" "" "" "" "" ""
"0000869286" "00024161" "90" "1690" "0" "1690" "0" "c.1690A>G" "r.(?)" "p.(Asn564Asp)" "" "" "" "" "" "" "" ""
"0000869287" "00024161" "90" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Gly376Arg)" "" "" "" "" "" "" "" ""
"0000869288" "00024161" "70" "1392" "0" "1403" "0" "c.1392_1403del" "r.(?)" "p.(Asp464_Tyr467del)" "" "" "" "" "" "" "" ""
"0000869289" "00024161" "90" "1748" "0" "1750" "0" "c.1748_1750del" "r.spl" "p.(Met582_Asp605delinsIle)" "" "" "" "" "" "" "" ""
"0000869290" "00024161" "90" "1690" "0" "1690" "0" "c.1690A>G" "r.(?)" "p.(Asn564Asp)" "" "" "" "" "" "" "" ""
"0000869291" "00024161" "70" "1355" "0" "1365" "0" "c.1355_1365delinsTTCAAGAAAAAAGTTTCTTGAAA" "r.(?)" "p.(Tyr452_Gln455delinsPheGlnGluLysSerPheLeuLys)" "" "" "" "" "" "" "" ""
"0000881192" "00024161" "90" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Arg649Trp)" "" "" "" "" "" "" "" ""
"0000886899" "00024161" "50" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Leu272Phe)" "" "" "" "" "" "" "" ""
"0000886900" "00024161" "10" "978" "0" "978" "0" "c.978G>A" "r.(?)" "p.(Met326Ile)" "" "" "" "" "" "" "" ""
"0000886901" "00024161" "10" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Phe392=)" "" "" "" "" "" "" "" ""
"0000912354" "00024161" "30" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Pro196Ser)" "" "" "" "" "" "" "" ""
"0000912355" "00024161" "30" "1920" "0" "1920" "0" "c.1920G>A" "r.(?)" "p.(Gly640=)" "" "" "" "" "" "" "" ""
"0000912356" "00024161" "30" "2140" "0" "2140" "0" "c.2140C>T" "r.(?)" "p.(Leu714=)" "" "" "" "" "" "" "" ""
"0000921070" "00024161" "50" "1693" "0" "1693" "0" "c.1693A>G" "r.(?)" "p.(Ser565Gly)" "" "" "DNA substitution (VariO:0136)" "" "" "" "" ""
"0000924369" "00024161" "50" "504" "0" "504" "0" "c.504T>A" "r.(?)" "p.(Asp168Glu)" "" "" "" "" "" "" "" ""
"0000924370" "00024161" "30" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Asn282Ser)" "" "" "" "" "" "" "" ""
"0000976835" "00024161" "30" "335" "-1124" "335" "-1123" "c.335-1124_335-1123insGA" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000976836" "00024161" "50" "701" "0" "701" "0" "c.701A>G" "r.(?)" "p.(His234Arg)" "" "" "" "" "" "" "" ""
"0000976837" "00024161" "30" "2109" "0" "2109" "0" "c.2109T>C" "r.(?)" "p.(=)" "" "" "" "" "" "" "" ""
"0000995136" "00024161" "30" "504" "0" "504" "0" "c.504T>A" "r.(?)" "p.(Asp168Glu)" "" "" "" "" "" "" "" ""
"0000995137" "00024161" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Pro199Ser)" "" "" "" "" "" "" "" ""
"0000995138" "00024161" "50" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "" "" "" "" "" "" ""
"0000995139" "00024161" "50" "917" "-1513" "917" "-1513" "c.917-1513G>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0000995140" "00024161" "50" "1020" "-6" "1020" "-2" "c.1020-6_1020-2del" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000995141" "00024161" "90" "1425" "1" "1425" "1" "c.1425+1G>T" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0000995142" "00024161" "50" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Arg562His)" "" "" "" "" "" "" "" ""
"0001025118" "00024161" "50" "1611" "0" "1611" "0" "c.1611A>C" "r.(?)" "p.(Glu537Asp)" "" "" "" "" "" "" "" ""
"0001025119" "00024161" "70" "1746" "-2" "1746" "-2" "c.1746-2A>G" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0001025120" "00024161" "10" "2109" "0" "2109" "0" "c.2109T>C" "r.(?)" "p.(=)" "" "" "" "" "" "" "" ""
"0001035286" "00024161" "50" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Ser83Leu)" "" "" "" "" "" "" "" ""
"0001035287" "00024161" "30" "334" "7" "334" "7" "c.334+7A>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" ""
"0001035288" "00024161" "50" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188His)" "" "" "" "" "" "" "" ""
"0001035289" "00024161" "50" "1415" "0" "1415" "0" "c.1415G>A" "r.(?)" "p.(Arg472His)" "" "" "" "" "" "" "" ""
"0001035290" "00024161" "50" "1450" "0" "1450" "0" "c.1450A>G" "r.(?)" "p.(Ile484Val)" "" "" "" "" "" "" "" ""
"0001051984" "00024161" "30" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Ser229=)" "" "" "" "" "" "" "" ""
"0001051985" "00024161" "30" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(=)" "" "" "" "" "" "" "" ""
"0001051986" "00024161" "30" "1986" "-3" "1986" "-3" "c.1986-3T>C" "r.spl?" "p.?" "" "" "" "" "" "" "" ""
"0001051987" "00024161" "50" "2054" "0" "2054" "0" "c.2054A>G" "r.(?)" "p.(Tyr685Cys)" "" "" "" "" "" "" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 31
"{{screeningid}}" "{{variantid}}"
"0000079969" "0000128844"
"0000079971" "0000128846"
"0000079973" "0000128848"
"0000079974" "0000128849"
"0000079983" "0000128858"
"0000080286" "0000129244"
"0000295058" "0000651747"
"0000295059" "0000651748"
"0000308399" "0000682745"
"0000308400" "0000682757"
"0000321035" "0000703801"
"0000335710" "0000734444"
"0000412018" "0000869275"
"0000412019" "0000869276"
"0000412020" "0000869277"
"0000412021" "0000869278"
"0000412022" "0000869279"
"0000412023" "0000869280"
"0000412024" "0000869281"
"0000412025" "0000869282"
"0000412026" "0000869283"
"0000412027" "0000869284"
"0000412028" "0000869285"
"0000412029" "0000869286"
"0000412030" "0000869287"
"0000412031" "0000869288"
"0000412032" "0000869289"
"0000412033" "0000869290"
"0000412034" "0000869291"
"0000420833" "0000881192"
"0000435130" "0000921070"