### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PRPS1)
# 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}}"
"PRPS1" "phosphoribosyl pyrophosphate synthetase 1" "X" "q21-q27" "unknown" "NG_008407.1" "UD_144477498631" "" "https://www.LOVD.nl/PRPS1" "" "1" "9462" "5631" "311850" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/PRPS1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2018-11-20 19:54:32" "00000" "2023-01-11 15:44:22"
## 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}}"
"00025255" "PRPS1" "transcript variant 1" "001" "NM_002764.3" "" "NP_002755.1" "" "" "" "-205" "1951" "957" "106871654" "106894256" "00001" "2018-01-29 15:39:10" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 13
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00021" "DFNX1" "deafness, X-linked, type 1 (DFNX-1)" "XL" "304500" "" "" "" "00008" "2012-07-30 11:15:12" "00006" "2021-12-10 21:51:32"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02177" "-" "superactivity, phosphoribosylpyrophosphate synthetase" "XLR" "300661" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02215" "ARTS;MRXS18" "Arts syndrome (ARTS, MRXS18)" "XLR" "301835" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02254" "CMTX5" "Charcot-Marie-Tooth disease, X-linked recessive, type 5 (CMTX-5)" "XLR" "311070" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40"
"05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00"
"05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08"
"05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" ""
"05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{geneid}}" "{{diseaseid}}"
"PRPS1" "00021"
"PRPS1" "00139"
"PRPS1" "02177"
"PRPS1" "02215"
"PRPS1" "02254"
## Individuals ## Do not remove or alter this header ##
## Count = 57
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00151970" "" "" "" "1" "" "00006" "{PMID:Kim 2007:17701900}" "" "" "" "" "" "0" "" "" "" ""
"00151971" "" "" "" "1" "" "00006" "{PMID:Becker 1995:7593598}" "" "" "" "" "" "0" "" "" "" ""
"00151972" "" "" "" "1" "" "00006" "{PMID:Liu 2010:20021999}" "" "" "" "" "" "0" "" "" "" ""
"00151973" "" "" "" "1" "" "00006" "{PMID:Liu 2010:20021999}" "" "" "" "" "" "0" "" "" "" ""
"00151974" "" "" "" "1" "" "01994" "{PMID:Robusto 2015:25182139}" "3-generation family with two affected male siblings and 2 obligate female carriers." "M" "no" "Italy" "" "0" "" "" "" ""
"00151975" "" "" "" "1" "" "01994" "{PMID:Robusto 2015:25182139}" "3-generation family with 4 affected males and 3 obligate carrier females. The carrier females show a milder phenotype." "M" "no" "Italy" "" "0" "" "" "" ""
"00151976" "" "" "" "1" "" "00006" "{PMID:Roessler 1991:1664177}" "" "" "" "" "" "0" "" "" "" ""
"00151977" "" "" "" "1" "" "00006" "{PMID:Kim 2007:17701900}" "" "" "" "" "" "0" "" "" "" ""
"00151978" "" "" "" "1" "" "00006" "{PMID:Becker 1995:7593598}" "" "" "" "" "" "0" "" "" "" ""
"00151979" "" "" "" "1" "" "00006" "{PMID:de Brouwer 2007:17701896}" "" "" "" "" "" "0" "" "" "" ""
"00151980" "" "" "" "1" "" "00006" "{PMID:de Brouwer 2007:17701896}" "" "" "" "" "" "0" "" "" "" ""
"00151981" "" "" "" "1" "" "00006" "{PMID:Roessler 1991:1664177}" "" "" "" "" "" "0" "" "" "" ""
"00151982" "" "" "" "1" "" "00006" "{PMID:Becker 1995:7593598}" "" "" "" "" "" "0" "" "" "" ""
"00151983" "" "" "" "1" "" "00006" "{PMID:Garcia-Pavia 2003:12847698}" "" "" "" "" "" "0" "" "" "" ""
"00151984" "" "" "" "1" "" "00006" "{PMID:Becker 1995:7593598}" "" "" "" "" "" "0" "" "" "" ""
"00151985" "" "" "" "1" "" "01994" "{PMID:Robusto 2015:25182139}" "3-generation family with two affected males and 2 obligate female carriers (DNA of 1st generation not available). The carrier females show a milder phenotype." "M" "no" "Peru" "" "0" "" "" "" ""
"00151986" "" "" "" "1" "" "00006" "{PMID:Liu 2010:20021999}" "" "" "" "" "" "0" "" "" "" ""
"00151987" "" "" "" "1" "" "00006" "{PMID:Liu 2010:20021999}" "" "" "" "" "" "0" "" "" "" ""
"00172476" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00172477" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00207340" "" "" "" "1" "" "02371" "" "" "M" "no" "France" "35y" "0" "" "" "" ""
"00266239" "" "" "" "1" "" "03262" "Mercati et al 2019 submitted" "" "M" "" "" "" "0" "" "" "" ""
"00266240" "" "" "" "1" "" "03262" "Mercati et al 2019 submitted" "" "M" "no" "Turkey" "" "0" "" "" "" ""
"00266241" "" "" "" "1" "" "03262" "Mercati et al 2019 submitted" "" "M" "" "" "" "0" "" "" "" ""
"00285730" "" "" "" "1" "" "00004" "{PMID:Almoguera 2014:25491489}" "" "" "" "" "" "0" "" "" "" ""
"00285731" "" "" "" "1" "" "00004" "{PMID:Kim 1993:20301731}, {PMID:Bird 1993:20301532}, {PMID:Kim 2007:17701900}" "" "" "" "" "" "0" "" "" "" ""
"00285732" "" "" "" "1" "" "00004" "{PMID:Zoref 1975:171280}, {PMID:Becker 1995:7593598}, {PMID:de Brouwer 1993:20301734}, {PMID:Chen 2013:23509005}" "" "" "" "" "" "0" "" "" "" ""
"00285733" "" "" "" "1" "" "00004" "{PMID:Liu 2010:20021999}, {PMID:Shearer 1993:20301607}, {PMID:Liu 1993:21834172}" "" "" "" "" "" "0" "" "" "" ""
"00285734" "" "" "" "1" "" "00004" "{PMID:Liu 2010:20021999}, {PMID:Shearer 1993:20301607}, {PMID:Tyson 1996:8968763}, {PMID:Liu 1993:21834172}" "" "" "" "" "" "0" "" "" "" ""
"00285735" "" "" "" "1" "" "00004" "{PMID:de Brouwer 1993:20301738}" "" "" "" "" "" "0" "" "" "" ""
"00285736" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Robusto 2015:25182139}, {PMID:Liu 1993:21834172}" "" "" "" "" "" "0" "" "" "" ""
"00285737" "" "" "" "1" "" "00004" "{PMID:Roessler 1993:8253776}, {PMID:Becker 1995:7593598}, {PMID:de Brouwer 1993:20301734}, {PMID:Becker 1986:2423135}, {PMID:Roessler 1991:1664177}" "" "" "" "" "" "0" "" "" "" ""
"00285738" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Robusto 2015:25182139}, {PMID:Bird 1993:20301532}, {PMID:Kim 1993:20301731}, {PMID:Liu 1993:21834172}" "" "" "" "" "" "0" "" "" "" ""
"00285739" "" "" "" "1" "" "00004" "{PMID:Kim 1993:20301731}, {PMID:Bird 1993:20301532}, {PMID:Kim 2007:17701900}" "" "" "" "" "" "0" "" "" "" ""
"00285740" "" "" "" "1" "" "00004" "{PMID:Park 2013:24285972}, {PMID:Kim 1993:20301731}, {PMID:Bird 1993:20301532}" "" "" "" "" "" "0" "" "" "" ""
"00285741" "" "" "" "1" "" "00004" "{PMID:Becker 1995:7593598}, {PMID:de Brouwer 1993:20301734}" "" "" "" "" "" "0" "" "" "" ""
"00285742" "" "" "" "1" "" "00004" "{PMID:de Brouwer 1993:20301738}, {PMID:de Brouwer 2007:17701896}" "" "" "" "" "" "0" "" "" "" ""
"00285743" "" "" "" "1" "" "00004" "{PMID:Moran 2012:22246954}, {PMID:de Brouwer 1993:20301738}" "" "" "" "" "" "0" "" "" "" ""
"00285744" "" "" "" "1" "" "00004" "{PMID:de Brouwer 1993:20301738}, {PMID:Arts 1993:8498830}, {PMID:de Brouwer 2007:17701896}" "" "" "" "" "" "0" "" "" "" ""
"00285745" "" "" "" "1" "" "00004" "{PMID:Roessler 1993:8253776}, {PMID:Becker 1980:6243137}, {PMID:de Brouwer 1993:20301734}, {PMID:Becker 1995:7593598}, {PMID:Roessler 1991:1664177}" "" "" "" "" "" "0" "" "" "" ""
"00285746" "" "" "" "1" "" "00004" "{PMID:Becker 1995:7593598}, {PMID:de Brouwer 1993:20301734}" "" "" "" "" "" "0" "" "" "" ""
"00285747" "" "" "" "1" "" "00004" "{PMID:García-Pavía 2003:12847698}" "" "" "" "" "" "0" "" "" "" ""
"00285748" "" "" "" "1" "" "00004" "{PMID:Becker 1995:7593598}, {PMID:de Brouwer 1993:20301734}" "" "" "" "" "" "0" "" "" "" ""
"00285749" "" "" "" "1" "" "00004" "{PMID:Al-Maawali 2015:24961627}" "" "" "" "" "" "0" "" "" "" ""
"00285750" "" "" "" "1" "" "00004" "{PMID:Synofzik 2014:24528855}" "" "" "" "" "" "0" "" "" "" ""
"00285751" "" "" "" "1" "" "00004" "{PMID:Liu 2010:20021999}, {PMID:Shearer 1993:20301607}, {PMID:Cui 2004:15240907}, {PMID:Liu 1993:21834172}" "" "" "" "" "" "0" "" "" "" ""
"00285752" "" "" "" "1" "" "00004" "{PMID:Liu 2010:20021999}, {PMID:Shearer 1993:20301607}, {PMID:Manolis 1999:10503584}, {PMID:Liu 1993:21834172}" "" "" "" "" "" "0" "" "" "" ""
"00285753" "" "" "" "1" "" "00004" "{PMID:Robusto 2015:25182139}, {PMID:Kim 1993:20301731}, {PMID:Bird 1993:20301532}" "" "" "" "" "" "0" "" "" "" ""
"00307646" "" "" "" "1" "" "01261" "{PMID:Puusepp 2020:33294372}, {DOI:Puusepp 2020:10.1016/j.ymgmr.2020.100677}" "2-generation family, 1 affected, unaffected heterozygous carrier females" "M" "no" "Estonia" "" "0" "" "" "" "patient"
"00314403" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" ""
"00314404" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" ""
"00388583" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.097"
"00395955" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 20175, genetic ID: 35460" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P1"
"00396454" "" "" "" "1" "" "04188" "{PMID:Shirakawa 2021:34803094}" "4-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "Japan" ">33y" "0" "" "" "" "FamPatIV1"
"00408941" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "M" "" "France" "" "0" "" "" "French" "IV"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 57
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00151970" "05113"
"00151971" "02177"
"00151972" "05103"
"00151973" "05103"
"00151974" "05103"
"00151975" "05103"
"00151976" "02177"
"00151977" "05113"
"00151978" "02177"
"00151979" "02177"
"00151980" "02177"
"00151981" "02177"
"00151982" "02177"
"00151983" "02177"
"00151984" "02177"
"00151985" "05103"
"00151986" "05103"
"00151987" "05103"
"00172476" "00187"
"00172477" "00187"
"00207340" "02254"
"00266239" "02254"
"00266240" "02254"
"00266241" "00021"
"00285730" "04214"
"00285731" "00198"
"00285732" "00198"
"00285733" "05103"
"00285734" "05103"
"00285735" "02215"
"00285736" "05086"
"00285737" "00198"
"00285738" "05086"
"00285739" "05113"
"00285740" "05113"
"00285741" "00198"
"00285742" "00198"
"00285743" "00198"
"00285744" "00198"
"00285745" "00198"
"00285746" "00198"
"00285747" "00198"
"00285748" "00198"
"00285749" "00198"
"00285750" "05113"
"00285751" "05103"
"00285752" "05103"
"00285753" "05086"
"00307646" "02215"
"00314403" "05126"
"00314404" "05126"
"00388583" "04214"
"00395955" "04214"
"00396454" "05113"
"00408941" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00021, 00139, 00187, 00198, 01157, 02177, 02215, 02254, 04214, 05086, 05103, 05113, 05126
## Count = 54
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" ""
"0000124333" "05113" "00151970" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMTX-5" "Rosenberg-Chutorian syndrome" ""
"0000124334" "02177" "00151971" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000124335" "05103" "00151972" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "DFNX-1" "Sensorineural deafness, nonsyndromic" ""
"0000124336" "05103" "00151973" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "DFNX-1" "Sensorineural deafness, nonsyndromic" ""
"0000124337" "05103" "00151974" "01994" "Familial, X-linked recessive" "" "post-lingual, bilateral, progressive deafness, normal speech development, received bilateral cochlear implants" "" "" "" "" "Reduced enzymatic activity" "" "" "" "" "DFNX-1" "nonsyndromic sensorineural hearing loss" ""
"0000124338" "05103" "00151975" "01994" "Familial, X-linked recessive" "" "post-lingual progressive bilateral hearing impairment, characterized by down-sloping audiometric profile, with moderate HL at low and middle frequencie, severe hearing impairment at higher frequencies; neurological evaluation displayed sign and symptoms of peripheral neuropathy, with both sensory and motor deficits" "" "" "" "" "Reduced enzymatic activity" "" "" "" "" "DFNX-1" "sensorineural hearing loss" ""
"0000124339" "02177" "00151976" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000124340" "05113" "00151977" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMTX-5" "Charcot-Marie-Tooth disease" ""
"0000124341" "02177" "00151978" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000124342" "02177" "00151979" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase deficiency" ""
"0000124343" "02177" "00151980" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase deficiency" ""
"0000124344" "02177" "00151981" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000124345" "02177" "00151982" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000124346" "02177" "00151983" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000124347" "02177" "00151984" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000124348" "05103" "00151985" "01994" "Familial, X-linked recessive" "" "post-lingual progressive bilateral hearing impairment, characterized by down-sloping audiometric profile, with moderate HL at low and middle frequencies and a severe hearing impairment at higher frequencies; neurological evaluation displayed sign and symptoms of mildly symptomatic peripheral neuropathy, with prevalent sensory involvement (i.e. Romberg positivity, absent deep tendon reflexes; showed chronic denervation at EMG evaluation, and mild axonal neuropathy affecting only motor nerves" "" "" "" "" "Reduced enzymatic activity" "" "" "" "" "DFNX-1" "sensorineural hearing loss" ""
"0000124349" "05103" "00151986" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "DFNX-1" "Sensorineural deafness, nonsyndromic" ""
"0000124350" "05103" "00151987" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "DFNX-1" "Sensorineural deafness, nonsyndromic" ""
"0000137340" "00187" "00172476" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000137341" "00187" "00172477" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000155122" "02254" "00207340" "02371" "Familial, X-linked" "35y" "sensori-motor neuropathy since the age of 8\r\nprofound bilateral hearing loss\r\nbilateral optic neuropathy" "08y" "" "35y" "15y" "" "" "" "" "" "" "" ""
"0000204016" "02254" "00266240" "03262" "Isolated (sporadic)" "" "hearing loss, epilepsy, peripheral neuropathy, severe IUGR" "" "" "00y06m" "" "" "" "" "" "" "" "" ""
"0000204017" "00021" "00266241" "03262" "Familial, X-linked" "" "" "" "" "08y" "" "" "" "" "" "" "" "hearing loss" ""
"0000217307" "00198" "00285731" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Rosenberg-Chutorian syndrome" ""
"0000217308" "00198" "00285732" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000217309" "00198" "00285737" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000217310" "00198" "00285741" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000217311" "00198" "00285742" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase deficiency" ""
"0000217312" "00198" "00285743" "00008" "Unknown" "" "recurrent infections" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000217313" "00198" "00285744" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase deficiency" ""
"0000217314" "00198" "00285745" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000217315" "00198" "00285746" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000217316" "00198" "00285747" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000217317" "00198" "00285748" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Phosphoribosylpyrophosphate synthetase superactivity" ""
"0000217318" "00198" "00285749" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Prenatal growth restriction, retinal dystrophy, diabetes insipidus & white matter disease" ""
"0000217997" "02215" "00285735" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Arts syndrome" ""
"0000218019" "04214" "00285730" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, syndromic" ""
"0000218331" "05086" "00285736" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" ""
"0000218332" "05086" "00285738" "00008" "Unknown" "" "peripheral neuropathy" "" "" "" "" "" "" "" "" "" "" "Hearing loss, X-linked" ""
"0000218333" "05086" "00285753" "00008" "Unknown" "" "peripheral neuropathy" "" "" "" "" "" "" "" "" "" "" "Hearing loss, X-linked" ""
"0000218737" "05103" "00285733" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic, sensorineural" ""
"0000218738" "05103" "00285734" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic, sensorineural" ""
"0000218739" "05103" "00285751" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic, sensorineural" ""
"0000218740" "05103" "00285752" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic, sensorineural" ""
"0000218742" "05113" "00285739" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 5" "Charcot-Marie-Tooth disease" ""
"0000218743" "05113" "00285740" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 5" "Charcot-Marie-Tooth disease" ""
"0000218744" "05113" "00285750" "00008" "Unknown" "" "arts syndrome" "" "" "" "" "" "" "" "" "" "type 5" "Charcot-Marie-Tooth disease" ""
"0000233211" "02215" "00307646" "01261" "Isolated (sporadic)" "" "" "" "" "" "" "PRPS activity in erythrocytes was markedly reduced confirming the pathogenicity of the variant" "" "" "" "" "" "" ""
"0000282123" "04214" "00388583" "00000" "Isolated (sporadic)" "" "Pretest syndrome" "" "" "8y" "" "" "" "" "" "" "Syndromic retinitis pigmentosa (ocular asymmetry, hearing loss and neurological disorders)" "Retinitis pigmentosa, diabetic retinopathy, deafness, epilepsy" ""
"0000289117" "04214" "00395955" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" ""
"0000290778" "05113" "00396454" "04188" "Unknown" "33y" "see paper; congenital bilateral hearing loss (HP:0000365), delayed ability to walk (HP:0031936); 11y-reduced visual acuity (HP:0007663); normal intelligence (-HP:0001249), difficulty grasping chopstick, difficulty writing, wheelchair-bound (HP:0006957); bilateral optic atrophy (HP:0000648); claw hand (HP:0001171), pes cavus (HP:0001761), distal muscle weakness (HP:0002460), hypesthesia, muscular atrophy hands/legs (HP:0009055), impaired vibration sensation ankles (HP:0006938), reduced tendon reflexes (HP:0001315), highly elevated creatine kinase (HP:0030234), sensory neuropathy (HP:0000763), ..." "03y" "" "" "hearing loss (HP:0000365), delayed ability to walk (HP:0031936)" "" "" "" "" "" "CMTX5" "Charcot-Marie-Tooth disease" ""
"0000301059" "04214" "00408941" "00000" "Isolated (sporadic)" "35y" "optic neuropathy, balance disorder, profound hearing loss" "8y" "" "" "Sensori?motor Axonal" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" ""
## Screenings ## Do not remove or alter this header ##
## Count = 57
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000152827" "00151970" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152828" "00151971" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152829" "00151972" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152830" "00151973" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152831" "00151974" "1" "01994" "01994" "2014-05-12 11:20:19" "01994" "2014-05-12 12:28:41" "SEQ-NG-I" "DNA" "" ""
"0000152832" "00151975" "1" "01994" "01994" "2014-05-12 12:26:59" "01994" "2014-05-13 15:22:25" "SEQ" "DNA" "" ""
"0000152833" "00151976" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152834" "00151977" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152835" "00151978" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152836" "00151979" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152837" "00151980" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152838" "00151981" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152839" "00151982" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152840" "00151983" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152841" "00151984" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152842" "00151985" "1" "01994" "01994" "2014-05-12 12:53:06" "" "" "SEQ" "DNA" "" ""
"0000152843" "00151986" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000152844" "00151987" "1" "00006" "00006" "2012-11-07 11:56:42" "" "" "SEQ" "DNA" "" ""
"0000173359" "00172476" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" ""
"0000173360" "00172477" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" ""
"0000208376" "00207340" "1" "02371" "02371" "2018-11-20 01:13:32" "" "" "SEQ-NG-IT" "DNA" "" ""
"0000267360" "00266239" "1" "03262" "03262" "2019-10-17 16:17:32" "" "" "SEQ" "DNA" "" ""
"0000267361" "00266240" "1" "03262" "03262" "2019-10-17 16:41:58" "" "" "SEQ-NG" "DNA" "" "WES"
"0000267362" "00266241" "1" "03262" "03262" "2019-10-17 16:47:49" "" "" "SEQ" "DNA" "" ""
"0000286880" "00285730" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286881" "00285731" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286882" "00285732" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286883" "00285733" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286884" "00285734" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286885" "00285735" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286886" "00285736" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286887" "00285737" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286888" "00285738" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286889" "00285739" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286890" "00285740" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286891" "00285741" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286892" "00285742" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286893" "00285743" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286894" "00285744" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286895" "00285745" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286896" "00285746" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286897" "00285747" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286898" "00285748" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286899" "00285749" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286900" "00285750" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286901" "00285751" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286902" "00285752" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000286903" "00285753" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000308787" "00307646" "1" "01261" "01261" "2020-08-17 13:03:58" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight One panel (4800 genes)"
"0000315576" "00314403" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000315577" "00314404" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000389825" "00388583" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000397194" "00395955" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study"
"0000398696" "00396454" "1" "04188" "04188" "2021-12-22 09:19:19" "00006" "2021-12-27 16:11:24" "SEQ" "DNA" "" ""
"0000410206" "00408941" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 53
"{{screeningid}}" "{{geneid}}"
"0000152827" "PRPS1"
"0000152828" "PRPS1"
"0000152829" "PRPS1"
"0000152830" "PRPS1"
"0000152831" "PRPS1"
"0000152832" "PRPS1"
"0000152833" "PRPS1"
"0000152834" "PRPS1"
"0000152835" "PRPS1"
"0000152836" "PRPS1"
"0000152837" "PRPS1"
"0000152838" "PRPS1"
"0000152839" "PRPS1"
"0000152840" "PRPS1"
"0000152841" "PRPS1"
"0000152842" "PRPS1"
"0000152843" "PRPS1"
"0000152844" "PRPS1"
"0000173359" "SYP"
"0000173360" "TIMP1"
"0000208376" "PRPS1"
"0000267360" "PRPS1"
"0000267362" "PRPS1"
"0000286880" "PRPS1"
"0000286881" "PRPS1"
"0000286882" "PRPS1"
"0000286883" "PRPS1"
"0000286884" "PRPS1"
"0000286885" "PRPS1"
"0000286886" "PRPS1"
"0000286887" "PRPS1"
"0000286888" "PRPS1"
"0000286889" "PRPS1"
"0000286890" "PRPS1"
"0000286891" "PRPS1"
"0000286892" "PRPS1"
"0000286893" "PRPS1"
"0000286894" "PRPS1"
"0000286895" "PRPS1"
"0000286896" "PRPS1"
"0000286897" "PRPS1"
"0000286898" "PRPS1"
"0000286899" "PRPS1"
"0000286900" "PRPS1"
"0000286901" "PRPS1"
"0000286902" "PRPS1"
"0000286903" "PRPS1"
"0000315576" "PRPS1"
"0000315577" "PRPS1"
"0000389825" "PRPS1"
"0000397194" "PRPS1"
"0000398696" "PRPS1"
"0000410206" "PRPS1"
## 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 = 80
"{{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}}"
"0000007407" "20" "50" "X" "106888333" "106888333" "subst" "0" "00037" "PRPS1_000001" "g.106888333C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.107645103C>T" "" "VUS" ""
"0000009529" "20" "50" "X" "106888333" "106888333" "subst" "0" "00037" "PRPS1_000001" "g.106888333C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.107645103C>T" "" "VUS" ""
"0000247759" "0" "90" "X" "106882531" "106882531" "subst" "0" "02330" "PRPS1_000004" "g.106882531A>C" "" "" "" "PRPS1(NM_002764.4):c.129A>C (p.E43D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107639301A>C" "" "pathogenic" ""
"0000294514" "0" "90" "X" "106884169" "106884169" "subst" "0" "02330" "PRPS1_000009" "g.106884169T>C" "" "" "" "PRPS1(NM_002764.4):c.344T>C (p.M115T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107640939T>C" "" "pathogenic" ""
"0000297389" "0" "30" "X" "106885667" "106885667" "subst" "0.00755236" "02325" "PRPS1_000026" "g.106885667C>T" "" "" "" "PRPS1(NM_002764.4):c.477C>T (p.I159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107642437C>T" "" "likely benign" ""
"0000306494" "0" "30" "X" "106885637" "106885637" "subst" "0.00165597" "01943" "PRPS1_000025" "g.106885637G>A" "" "" "" "PRPS1(NM_002764.3):c.447G>A (p.P149=), PRPS1(NM_002764.4):c.447G>A (p.P149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107642407G>A" "" "likely benign" ""
"0000335109" "0" "50" "X" "106884191" "106884191" "subst" "0" "01804" "PRPS1_000024" "g.106884191T>C" "" "" "" "PRPS1(NM_001204402.1):c.-82-4216T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107640961T>C" "" "VUS" ""
"0000335110" "0" "50" "X" "106890830" "106890830" "subst" "0.0000559478" "01804" "PRPS1_000027" "g.106890830C>T" "" "" "" "PRPS1(NM_001204402.1):c.93-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107647600C>T" "" "VUS" ""
"0000343523" "0" "50" "X" "106882689" "106882689" "subst" "0" "02327" "PRPS1_000028" "g.106882689G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107639459G>A" "" "VUS" ""
"0000351663" "0" "90" "X" "106882531" "106882531" "subst" "0" "00006" "PRPS1_000004" "g.106882531A>C" "" "{PMID:Kim 2007:17701900}" "" "" "" "Germline" "" "" "0" "" "" "g.107639301A>C" "" "pathogenic" ""
"0000351664" "0" "90" "X" "106882556" "106882556" "subst" "0" "00006" "PRPS1_000005" "g.106882556G>C" "" "{PMID:Becker 1995:07593598}" "" "" "" "Germline" "" "" "0" "" "" "g.107639326G>C" "" "pathogenic" ""
"0000351665" "0" "90" "X" "106882595" "106882595" "subst" "0" "00006" "PRPS1_000006" "g.106882595G>A" "" "{PMID:Liu 2010:20021999}" "" "c.193G>A" "" "Germline" "" "" "0" "" "" "g.107639365G>A" "" "pathogenic" ""
"0000351666" "0" "90" "X" "106882661" "106882661" "subst" "0" "00006" "PRPS1_000007" "g.106882661G>A" "" "{PMID:Liu 2010:20021999}" "" "c.259G>A" "" "Germline" "" "" "0" "" "" "g.107639431G>A" "" "pathogenic" ""
"0000351667" "21" "90" "X" "106884162" "106884162" "subst" "0" "01994" "PRPS1_000019" "g.106884162G>T" "" "{PMID:Robusto 2015:25182139}" "" "c.337G>T" "variant absent in 123 Italian normal-hearing controls, 1000 Genome Project, and NHLBIExome Variant Server" "Germline" "" "" "0" "" "" "g.107640932G>T" "" "pathogenic" ""
"0000351668" "21" "90" "X" "106884168" "106884168" "subst" "0" "01994" "PRPS1_000020" "g.106884168A>G" "" "{PMID:Robusto 2015:25182139}" "" "c.343A>G" "variant absent in 123 Italian normal-hearing controls, 1000 Genome Project, and NHLBIExome Variant Server" "Germline" "" "" "0" "" "" "g.107640938A>G" "" "pathogenic" ""
"0000351669" "0" "90" "X" "106884166" "106884166" "subst" "0" "00006" "PRPS1_000008" "g.106884166A>G" "" "{PMID:Roessler 1991:01664177}" "" "c.341A>G" "" "Germline" "" "" "0" "" "" "g.107640936A>G" "" "pathogenic" ""
"0000351670" "0" "90" "X" "106884169" "106884169" "subst" "0" "00006" "PRPS1_000009" "g.106884169T>C" "" "{PMID:Kim 2007:17701900}" "" "c.344T>C" "" "Germline" "" "" "0" "" "" "g.107640939T>C" "" "pathogenic" ""
"0000351671" "0" "90" "X" "106884210" "106884210" "subst" "0" "00006" "PRPS1_000010" "g.106884210C>A" "" "{PMID:Becker 1995:07593598}" "" "c.385C>A" "" "Germline" "" "" "0" "" "" "g.107640980C>A" "" "pathogenic" ""
"0000351672" "0" "90" "X" "106884223" "106884223" "subst" "0" "00006" "PRPS1_000011" "g.106884223A>C" "" "{PMID:de Brouwer 2007:17701896}" "" "c.398A>C" "" "Germline" "" "" "0" "" "" "g.107640993A>C" "" "pathogenic" ""
"0000351673" "0" "90" "X" "106885645" "106885645" "subst" "0" "00006" "PRPS1_000012" "g.106885645T>C" "" "{PMID:de Brouwer 2007:17701896}" "" "c.455T>C" "" "Germline" "" "" "0" "" "" "g.107642415T>C" "" "pathogenic" ""
"0000351674" "0" "90" "X" "106888423" "106888423" "subst" "0" "00006" "PRPS1_000013" "g.106888423G>C" "" "{PMID:Roessler 1991:01664177}" "" "c.547G>C" "" "Germline" "" "" "0" "" "" "g.107645193G>C" "" "pathogenic" ""
"0000351675" "0" "90" "X" "106888445" "106888445" "subst" "0" "00006" "PRPS1_000014" "g.106888445C>T" "" "{PMID:Becker 1995:07593598}" "" "c.569C>T" "" "Germline" "" "" "0" "" "" "g.107645215C>T" "" "pathogenic" ""
"0000351676" "0" "90" "X" "106888454" "106888454" "subst" "0" "00006" "PRPS1_000015" "g.106888454A>T" "" "{PMID:Garcia-Pavia 2003:12847698}" "" "c.578A>T" "" "Germline" "" "" "0" "" "" "g.107645224A>T" "" "pathogenic" ""
"0000351677" "0" "90" "X" "106888455" "106888455" "subst" "0" "00006" "PRPS1_000016" "g.106888455C>G" "" "{PMID:Becker 1995:07593598}" "" "c.579C>G" "" "Germline" "" "" "0" "" "" "g.107645225C>G" "" "pathogenic" ""
"0000351678" "21" "90" "X" "106893230" "106893230" "subst" "0" "01994" "PRPS1_000021" "g.106893230G>T" "" "{PMID:Robusto 2015:25182139}" "" "c.925G>T" "variant absent in 123 Italian normal-hearing controls, 1000 Genome Project, and NHLBIExome Variant Server" "Germline" "" "" "0" "" "" "g.107650000G>T" "" "pathogenic" ""
"0000351679" "0" "90" "X" "106893174" "106893174" "subst" "0" "00006" "PRPS1_000017" "g.106893174T>C" "" "{PMID:Liu 2010:20021999}" "" "c.869T>C" "" "Germline" "" "" "0" "" "" "g.107649944T>C" "" "pathogenic" ""
"0000351680" "0" "90" "X" "106893221" "106893221" "subst" "0" "00006" "PRPS1_000018" "g.106893221G>A" "" "{PMID:Liu 2010:20021999}" "" "c.916G>A" "" "Germline" "" "" "0" "" "" "g.107649991G>A" "" "pathogenic" ""
"0000393216" "1" "30" "X" "106885667" "106885667" "subst" "0.00755236" "00124" "PRPS1_000026" "g.106885667C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "I159I" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.107642437C>T" "" "likely benign" ""
"0000393217" "1" "30" "X" "106893247" "106893247" "subst" "0.000413974" "00124" "PRPS1_000030" "g.106893247C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S314S" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.107650017C>T" "" "likely benign" ""
"0000438212" "0" "90" "X" "106882604" "106882604" "subst" "0" "02371" "PRPS1_000031" "g.106882604A>T" "" "submitted for publication" "" "" "" "Somatic" "yes" "" "0" "" "" "g.107639374A>T" "" "pathogenic" ""
"0000572880" "0" "10" "X" "106885637" "106885637" "subst" "0.00165597" "02330" "PRPS1_000025" "g.106885637G>A" "" "" "" "PRPS1(NM_002764.3):c.447G>A (p.P149=), PRPS1(NM_002764.4):c.447G>A (p.P149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107642407G>A" "" "benign" ""
"0000572881" "0" "10" "X" "106885667" "106885667" "subst" "0.00755236" "02330" "PRPS1_000026" "g.106885667C>T" "" "" "" "PRPS1(NM_002764.4):c.477C>T (p.I159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107642437C>T" "" "benign" ""
"0000572882" "0" "50" "X" "106888553" "106888553" "subst" "0" "01943" "PRPS1_000032" "g.106888553G>A" "" "" "" "PRPS1(NM_002764.3):c.677G>A (p.C226Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107645323G>A" "" "VUS" ""
"0000598418" "0" "50" "X" "106884208" "106884208" "subst" "0" "03262" "PRPS1_000033" "g.106884208A>T" "" "Mercati et al 2019 submitted" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.107640978A>T" "" "pathogenic" ""
"0000598419" "0" "70" "X" "106882608" "106882608" "subst" "0" "03262" "PRPS1_000035" "g.106882608A>C" "" "Mercati et al 2019 submitted" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.107639378A>C" "" "pathogenic (dominant)" ""
"0000598420" "21" "50" "X" "106882538" "106882538" "subst" "0" "03262" "PRPS1_000034" "g.106882538G>C" "" "Mercati et al 2019 submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.107639308G>C" "" "pathogenic" ""
"0000642622" "1" "99" "X" "106871904" "106871904" "subst" "0" "00004" "PRPS1_000037" "g.106871904T>C" "" "{DB:DVD}, {PMID:Almoguera 2014:25491489}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107628674T>C" "" "pathogenic" ""
"0000642623" "1" "99" "X" "106882531" "106882531" "subst" "0" "00004" "PRPS1_000004" "g.106882531A>C" "" "{DB:DVD}, {PMID:Kim 1993:20301731}, {PMID:Bird 1993:20301532}, {PMID:Kim 2007:17701900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107639301A>C" "" "pathogenic" ""
"0000642624" "1" "99" "X" "106882556" "106882556" "subst" "0" "00004" "PRPS1_000005" "g.106882556G>C" "" "{DB:DVD}, {PMID:Zoref 1975:171280}, {PMID:Becker 1995:7593598}, {PMID:de Brouwer 1993:20301734}, {PMID:Chen 2013:23509005}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107639326G>C" "" "pathogenic" ""
"0000642625" "1" "99" "X" "106882595" "106882595" "subst" "0" "00004" "PRPS1_000006" "g.106882595G>A" "" "{DB:DVD}, {PMID:Liu 2010:20021999}, {PMID:Shearer 1993:20301607}, {PMID:Liu 1993:21834172}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107639365G>A" "" "pathogenic" ""
"0000642626" "1" "99" "X" "106882661" "106882661" "subst" "0" "00004" "PRPS1_000007" "g.106882661G>A" "" "{DB:DVD}, {PMID:Liu 2010:20021999}, {PMID:Shearer 1993:20301607}, {PMID:Tyson 1996:8968763}, {PMID:Liu 1993:21834172}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107639431G>A" "" "pathogenic" ""
"0000642627" "1" "11" "X" "106884161" "106884161" "subst" "0" "00004" "PRPS1_000038" "g.106884161T>C" "" "{DB:DVD}, {PMID:de Brouwer 1993:20301738}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107640931T>C" "" "benign" ""
"0000642628" "1" "99" "X" "106884162" "106884162" "subst" "0" "00004" "PRPS1_000019" "g.106884162G>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Robusto 2015:25182139}, {PMID:Liu 1993:21834172}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107640932G>T" "" "pathogenic" ""
"0000642629" "1" "99" "X" "106884166" "106884166" "subst" "0" "00004" "PRPS1_000008" "g.106884166A>G" "" "{DB:DVD}, {PMID:Roessler 1993:8253776}, {PMID:Becker 1995:7593598}, {PMID:de Brouwer 1993:20301734}, {PMID:Becker 1986:2423135}, {PMID:Roessler 1991:1664177}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107640936A>G" "" "pathogenic" ""
"0000642630" "1" "99" "X" "106884168" "106884168" "subst" "0" "00004" "PRPS1_000020" "g.106884168A>G" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Robusto 2015:25182139}, {PMID:Bird 1993:20301532}, {PMID:Kim 1993:20301731}, {PMID:Liu 1993:21834172}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107640938A>G" "" "pathogenic" ""
"0000642631" "1" "99" "X" "106884169" "106884169" "subst" "0" "00004" "PRPS1_000009" "g.106884169T>C" "" "{DB:DVD}, {PMID:Kim 1993:20301731}, {PMID:Bird 1993:20301532}, {PMID:Kim 2007:17701900}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107640939T>C" "" "pathogenic" ""
"0000642632" "1" "99" "X" "106884187" "106884187" "subst" "0" "00004" "PRPS1_000039" "g.106884187C>G" "" "{DB:DVD}, {PMID:Park 2013:24285972}, {PMID:Kim 1993:20301731}, {PMID:Bird 1993:20301532}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107640957C>G" "" "pathogenic" ""
"0000642633" "1" "99" "X" "106884210" "106884210" "subst" "0" "00004" "PRPS1_000010" "g.106884210C>A" "" "{DB:DVD}, {PMID:Becker 1995:7593598}, {PMID:de Brouwer 1993:20301734}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107640980C>A" "" "pathogenic" ""
"0000642634" "1" "99" "X" "106884223" "106884223" "subst" "0" "00004" "PRPS1_000011" "g.106884223A>C" "" "{DB:DVD}, {PMID:de Brouwer 1993:20301738}, {PMID:de Brouwer 2007:17701896}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107640993A>C" "" "pathogenic" ""
"0000642635" "1" "99" "X" "106885614" "106885614" "subst" "0" "00004" "PRPS1_000040" "g.106885614G>C" "" "{DB:DVD}, {PMID:Moran 2012:22246954}, {PMID:de Brouwer 1993:20301738}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107642384G>C" "" "pathogenic" ""
"0000642636" "1" "99" "X" "106885645" "106885645" "subst" "0" "00004" "PRPS1_000012" "g.106885645T>C" "" "{DB:DVD}, {PMID:de Brouwer 1993:20301738}, {PMID:Arts 1993:8498830}, {PMID:de Brouwer 2007:17701896}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107642415T>C" "" "pathogenic" ""
"0000642637" "1" "99" "X" "106888423" "106888423" "subst" "0" "00004" "PRPS1_000013" "g.106888423G>C" "" "{DB:DVD}, {PMID:Roessler 1993:8253776}, {PMID:Becker 1980:6243137}, {PMID:de Brouwer 1993:20301734}, {PMID:Becker 1995:7593598}, {PMID:Roessler 1991:1664177}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107645193G>C" "" "pathogenic" ""
"0000642638" "1" "99" "X" "106888445" "106888445" "subst" "0" "00004" "PRPS1_000014" "g.106888445C>T" "" "{DB:DVD}, {PMID:Becker 1995:7593598}, {PMID:de Brouwer 1993:20301734}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107645215C>T" "" "pathogenic" ""
"0000642639" "1" "99" "X" "106888454" "106888454" "subst" "0" "00004" "PRPS1_000015" "g.106888454A>T" "" "{DB:DVD}, {PMID:García-Pavía 2003:12847698}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107645224A>T" "" "pathogenic" ""
"0000642640" "1" "99" "X" "106888455" "106888455" "subst" "0" "00004" "PRPS1_000016" "g.106888455C>G" "" "{DB:DVD}, {PMID:Becker 1995:7593598}, {PMID:de Brouwer 1993:20301734}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107645225C>G" "" "pathogenic" ""
"0000642641" "1" "99" "X" "106888462" "106888462" "subst" "0" "00004" "PRPS1_000041" "g.106888462C>T" "" "{DB:DVD}, {PMID:Al-Maawali 2015:24961627}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107645232C>T" "" "pathogenic" ""
"0000642642" "1" "99" "X" "106890961" "106890961" "subst" "0" "00004" "PRPS1_000042" "g.106890961A>C" "" "{DB:DVD}, {PMID:Synofzik 2014:24528855}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107647731A>C" "" "pathogenic" ""
"0000642643" "1" "99" "X" "106893174" "106893174" "subst" "0" "00004" "PRPS1_000017" "g.106893174T>C" "" "{DB:DVD}, {PMID:Liu 2010:20021999}, {PMID:Shearer 1993:20301607}, {PMID:Cui 2004:15240907}, {PMID:Liu 1993:21834172}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107649944T>C" "" "pathogenic" ""
"0000642644" "1" "99" "X" "106893221" "106893221" "subst" "0" "00004" "PRPS1_000018" "g.106893221G>A" "" "{DB:DVD}, {PMID:Liu 2010:20021999}, {PMID:Shearer 1993:20301607}, {PMID:Manolis 1999:10503584}, {PMID:Liu 1993:21834172}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107649991G>A" "" "pathogenic" ""
"0000642645" "1" "99" "X" "106893230" "106893230" "subst" "0" "00004" "PRPS1_000021" "g.106893230G>T" "" "{DB:DVD}, {PMID:Robusto 2015:25182139}, {PMID:Kim 1993:20301731}, {PMID:Bird 1993:20301532}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.107650000G>T" "" "pathogenic" ""
"0000659034" "0" "50" "X" "106890933" "106890933" "subst" "0" "02325" "PRPS1_000043" "g.106890933G>A" "" "" "" "PRPS1(NM_002764.4):c.802G>A (p.A268T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107647703G>A" "" "VUS" ""
"0000682005" "0" "50" "X" "106890910" "106890910" "subst" "0" "01943" "PRPS1_000044" "g.106890910G>A" "" "" "" "PRPS1(NM_002764.3):c.779G>A (p.R260H), PRPS1(NM_002764.4):c.779G>A (p.R260H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000683199" "21" "90" "X" "106882532" "106882532" "subst" "0" "01261" "PRPS1_000045" "g.106882532A>G" "absent from gnomAD" "{PMID:Puusepp 2020:33294372}, {DOI:Puusepp 2020:10.1016/j.ymgmr.2020.100677}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000693264" "0" "30" "X" "106888449" "106888449" "subst" "0.00040268" "02325" "PRPS1_000046" "g.106888449G>A" "" "" "" "PRPS1(NM_002764.3):c.573G>A (p.L191=), PRPS1(NM_002764.4):c.573G>A (p.L191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000693265" "0" "50" "X" "106890910" "106890910" "subst" "0" "02325" "PRPS1_000044" "g.106890910G>A" "" "" "" "PRPS1(NM_002764.3):c.779G>A (p.R260H), PRPS1(NM_002764.4):c.779G>A (p.R260H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000693266" "0" "50" "X" "106890910" "106890910" "subst" "0" "02327" "PRPS1_000044" "g.106890910G>A" "" "" "" "PRPS1(NM_002764.3):c.779G>A (p.R260H), PRPS1(NM_002764.4):c.779G>A (p.R260H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000697665" "0" "70" "X" "106890958" "106890958" "subst" "0" "00006" "PRPS1_000047" "g.106890958C>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.107647728C>A" "" "likely pathogenic" ""
"0000697666" "0" "70" "X" "106893222" "106893222" "subst" "0" "00006" "PRPS1_000048" "g.106893222G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.107649992G>A" "" "likely pathogenic" ""
"0000728294" "0" "50" "X" "106893173" "106893173" "subst" "0.0000112107" "01943" "PRPS1_000049" "g.106893173A>G" "" "" "" "PRPS1(NM_002764.3):c.868A>G (p.I290V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000796592" "0" "70" "X" "106884197" "106884197" "subst" "0" "03779" "PRPS1_000050" "g.106884197T>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000809759" "0" "30" "X" "106888449" "106888449" "subst" "0.00040268" "01943" "PRPS1_000046" "g.106888449G>A" "" "" "" "PRPS1(NM_002764.3):c.573G>A (p.L191=), PRPS1(NM_002764.4):c.573G>A (p.L191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000819084" "0" "70" "X" "106882694" "106882694" "subst" "0" "00000" "PRPS1_000051" "g.106882694G>A" "" "{PMID:Dineiro 2020:32483926}" "" "PRPS1 c.292G>A, p.(Asp98Asn)" "heterozygous" "Germline" "?" "" "0" "" "" "g.107639464G>A" "" "likely pathogenic" "ACMG"
"0000829043" "0" "70" "X" "106871905" "106871905" "subst" "0" "00000" "PRPS1_000052" "g.106871905C>T" "" "{PMID:Georgiou 2021:32795431}" "" "PRPS1 c.47C>T, p.Ser16Phe" "" "Unknown" "?" "" "0" "" "" "g.107628675C>T" "" "likely pathogenic" ""
"0000831080" "21" "90" "X" "106871940" "106871940" "subst" "0" "04188" "PRPS1_000053" "g.106871940G>C" "" "{PMID:Shirakawa 2021:34803094}" "" "" "" "Germline" "" "" "0" "" "" "g.107628710G>C" "" "pathogenic (recessive)" ""
"0000832671" "0" "70" "X" "106885627" "106885627" "subst" "0" "03779" "PRPS1_000054" "g.106885627A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000847471" "20" "90" "X" "106882604" "106882604" "subst" "0" "00000" "PRPS1_000031" "g.106882604A>T" "" "" "" "c.202A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000856256" "0" "30" "X" "106888392" "106888392" "subst" "0.000195866" "02330" "PRPS1_000055" "g.106888392C>T" "" "" "" "PRPS1(NM_002764.4):c.531-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856257" "0" "30" "X" "106888393" "106888393" "subst" "0.0000279813" "02330" "PRPS1_000056" "g.106888393G>A" "" "" "" "PRPS1(NM_002764.4):c.531-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856258" "0" "30" "X" "106888449" "106888449" "subst" "0.00040268" "02326" "PRPS1_000046" "g.106888449G>A" "" "" "" "PRPS1(NM_002764.3):c.573G>A (p.L191=), PRPS1(NM_002764.4):c.573G>A (p.L191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000866960" "0" "30" "X" "106893247" "106893247" "subst" "0.000413974" "01943" "PRPS1_000030" "g.106893247C>T" "" "" "" "PRPS1(NM_002764.3):c.942C>T (p.S314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 PRPS1
## Count = 80
"{{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}}"
"0000007407" "00025255" "00" "531" "-74" "531" "-74" "c.531-74C>T" "r.(=)" "p.(=)" ""
"0000009529" "00025255" "00" "531" "-74" "531" "-74" "c.531-74C>T" "r.(=)" "p.(=)" ""
"0000247759" "00025255" "90" "129" "0" "129" "0" "c.129A>C" "r.(?)" "p.(Glu43Asp)" ""
"0000294514" "00025255" "90" "344" "0" "344" "0" "c.344T>C" "r.(?)" "p.(Met115Thr)" ""
"0000297389" "00025255" "30" "477" "0" "477" "0" "c.477C>T" "r.(?)" "p.(Ile159=)" ""
"0000306494" "00025255" "30" "447" "0" "447" "0" "c.447G>A" "r.(?)" "p.(Pro149=)" ""
"0000335109" "00025255" "50" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(Asp122=)" ""
"0000335110" "00025255" "50" "705" "-6" "705" "-6" "c.705-6C>T" "r.(=)" "p.(=)" ""
"0000343523" "00025255" "50" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Arg96Gln)" ""
"0000351663" "00025255" "90" "129" "0" "129" "0" "c.129A>C" "r.(?)" "p.(Glu43Asp)" "2"
"0000351664" "00025255" "90" "154" "0" "154" "0" "c.154G>C" "r.(?)" "p.(Asp52His)" "2"
"0000351665" "00025255" "90" "193" "0" "193" "0" "c.193G>A" "r.(?)" "p.(Asp65Asn)" "2"
"0000351666" "00025255" "90" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Ala87Thr)" "2"
"0000351667" "00025255" "90" "337" "0" "337" "0" "c.337G>T" "r.(?)" "p.(Ala113Ser)" "3"
"0000351668" "00025255" "90" "343" "0" "343" "0" "c.343A>G" "r.(?)" "p.(Met115Val)" "3"
"0000351669" "00025255" "90" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(Asn114Ser)" "3"
"0000351670" "00025255" "90" "344" "0" "344" "0" "c.344T>C" "r.(?)" "p.(Met115Thr)" "3"
"0000351671" "00025255" "90" "385" "0" "385" "0" "c.385C>A" "r.(?)" "p.(Leu129Ile)" "3"
"0000351672" "00025255" "90" "398" "0" "398" "0" "c.398A>C" "r.(?)" "p.(Gln133Pro)" "3"
"0000351673" "00025255" "90" "455" "0" "455" "0" "c.455T>C" "r.(?)" "p.(Leu152Pro)" "4"
"0000351674" "00025255" "90" "547" "0" "547" "0" "c.547G>C" "r.(?)" "p.(Asp183His)" "5"
"0000351675" "00025255" "90" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Ala190Val)" "5"
"0000351676" "00025255" "90" "578" "0" "578" "0" "c.578A>T" "r.(?)" "p.(His193Leu)" "5"
"0000351677" "00025255" "90" "579" "0" "579" "0" "c.579C>G" "r.(?)" "p.(His193Gln)" "5"
"0000351678" "00025255" "90" "925" "0" "925" "0" "c.925G>T" "r.(?)" "p.(Val309Phe)" "7"
"0000351679" "00025255" "90" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Ile290Thr)" "7"
"0000351680" "00025255" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "7"
"0000393216" "00025255" "30" "477" "0" "477" "0" "c.477C>T" "r.(=)" "p.(=)" ""
"0000393217" "00025255" "30" "942" "0" "942" "0" "c.942C>T" "r.(=)" "p.(=)" ""
"0000438212" "00025255" "90" "202" "0" "202" "0" "c.202A>T" "r.(?)" "p.(Met68Leu)" "2"
"0000572880" "00025255" "10" "447" "0" "447" "0" "c.447G>A" "r.(?)" "p.(Pro149=)" ""
"0000572881" "00025255" "10" "477" "0" "477" "0" "c.477C>T" "r.(?)" "p.(Ile159=)" ""
"0000572882" "00025255" "50" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Cys226Tyr)" ""
"0000598418" "00025255" "50" "383" "0" "383" "0" "c.383A>T" "r.(?)" "p.(Asp128Val)" ""
"0000598419" "00025255" "70" "206" "0" "206" "0" "c.206A>C" "r.(?)" "p.(Glu69Ala)" ""
"0000598420" "00025255" "50" "136" "0" "136" "0" "c.136G>C" "r.(?)" "p.(Glu46Gln)" ""
"0000642622" "00025255" "99" "46" "0" "46" "0" "c.46T>C" "r.(?)" "p.(Ser16Pro)" "1"
"0000642623" "00025255" "99" "129" "0" "129" "0" "c.129A>C" "r.(?)" "p.(Glu43Asp)" "2"
"0000642624" "00025255" "99" "154" "0" "154" "0" "c.154G>C" "r.(?)" "p.(Asp52His)" "2"
"0000642625" "00025255" "99" "193" "0" "193" "0" "c.193G>A" "r.(?)" "p.(Asp65Asn)" "2"
"0000642626" "00025255" "99" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Ala87Thr)" "2"
"0000642627" "00025255" "11" "336" "0" "336" "0" "c.336T>C" "r.(=)" "p.(=)" "3"
"0000642628" "00025255" "99" "337" "0" "337" "0" "c.337G>T" "r.(?)" "p.(Ala113Ser)" "3"
"0000642629" "00025255" "99" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(Asn114Ser)" "3"
"0000642630" "00025255" "99" "343" "0" "343" "0" "c.343A>G" "r.(?)" "p.(Met115Val)" "3"
"0000642631" "00025255" "99" "344" "0" "344" "0" "c.344T>C" "r.(?)" "p.(Met115Thr)" "3"
"0000642632" "00025255" "99" "362" "0" "362" "0" "c.362C>G" "r.(?)" "p.(Ala121Gly)" "3"
"0000642633" "00025255" "99" "385" "0" "385" "0" "c.385C>A" "r.(?)" "p.(Leu129Ile)" "3"
"0000642634" "00025255" "99" "398" "0" "398" "0" "c.398A>C" "r.(?)" "p.(Gln133Pro)" "3"
"0000642635" "00025255" "99" "424" "0" "424" "0" "c.424G>C" "r.(?)" "p.(Val142Leu)" "4"
"0000642636" "00025255" "99" "455" "0" "455" "0" "c.455T>C" "r.(?)" "p.(Leu152Pro)" "4"
"0000642637" "00025255" "99" "547" "0" "547" "0" "c.547G>C" "r.(?)" "p.(Asp183His)" "5"
"0000642638" "00025255" "99" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Ala190Val)" "5"
"0000642639" "00025255" "99" "578" "0" "578" "0" "c.578A>T" "r.(?)" "p.(His193Leu)" "5"
"0000642640" "00025255" "99" "579" "0" "579" "0" "c.579C>G" "r.(?)" "p.(His193Gln)" "5"
"0000642641" "00025255" "99" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Trp)" "5"
"0000642642" "00025255" "99" "830" "0" "830" "0" "c.830A>C" "r.(?)" "p.(Gln277Pro)" "6"
"0000642643" "00025255" "99" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Ile290Thr)" "7"
"0000642644" "00025255" "99" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "7"
"0000642645" "00025255" "99" "925" "0" "925" "0" "c.925G>T" "r.(?)" "p.(Val309Phe)" "7"
"0000659034" "00025255" "50" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Ala268Thr)" ""
"0000682005" "00025255" "50" "779" "0" "779" "0" "c.779G>A" "r.(?)" "p.(Arg260His)" ""
"0000683199" "00025255" "90" "130" "0" "130" "0" "c.130A>G" "r.(?)" "p.(Ile44Val)" "2"
"0000693264" "00025255" "30" "573" "0" "573" "0" "c.573G>A" "r.(?)" "p.(Leu191=)" ""
"0000693265" "00025255" "50" "779" "0" "779" "0" "c.779G>A" "r.(?)" "p.(Arg260His)" ""
"0000693266" "00025255" "50" "779" "0" "779" "0" "c.779G>A" "r.(?)" "p.(Arg260His)" ""
"0000697665" "00025255" "70" "827" "0" "827" "0" "c.827C>A" "r.(?)" "p.(Pro276His)" ""
"0000697666" "00025255" "70" "917" "0" "917" "0" "c.917G>A" "r.(?)" "p.(Gly306Glu)" ""
"0000728294" "00025255" "50" "868" "0" "868" "0" "c.868A>G" "r.(?)" "p.(Ile290Val)" ""
"0000796592" "00025255" "70" "372" "0" "372" "0" "c.372T>G" "r.(?)" "p.(Ile124Met)" ""
"0000809759" "00025255" "30" "573" "0" "573" "0" "c.573G>A" "r.(?)" "p.(Leu191=)" ""
"0000819084" "00025255" "70" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Asp98Asn)" ""
"0000829043" "00025255" "70" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Ser16Phe)" ""
"0000831080" "00025255" "90" "82" "0" "82" "0" "c.82G>C" "r.(?)" "p.(Gly28Arg)" ""
"0000832671" "00025255" "70" "437" "0" "437" "0" "c.437A>G" "r.(?)" "p.(Tyr146Cys)" ""
"0000847471" "00025255" "90" "202" "0" "202" "0" "c.202A>T" "r.(?)" "p.(Met68Leu)" "2"
"0000856256" "00025255" "30" "531" "-15" "531" "-15" "c.531-15C>T" "r.(=)" "p.(=)" ""
"0000856257" "00025255" "30" "531" "-14" "531" "-14" "c.531-14G>A" "r.(=)" "p.(=)" ""
"0000856258" "00025255" "30" "573" "0" "573" "0" "c.573G>A" "r.(?)" "p.(Leu191=)" ""
"0000866960" "00025255" "30" "942" "0" "942" "0" "c.942C>T" "r.(?)" "p.(Ser314=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 57
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000007407"
"0000000210" "0000009529"
"0000152827" "0000351663"
"0000152828" "0000351664"
"0000152829" "0000351665"
"0000152830" "0000351666"
"0000152831" "0000351667"
"0000152832" "0000351668"
"0000152833" "0000351669"
"0000152834" "0000351670"
"0000152835" "0000351671"
"0000152836" "0000351672"
"0000152837" "0000351673"
"0000152838" "0000351674"
"0000152839" "0000351675"
"0000152840" "0000351676"
"0000152841" "0000351677"
"0000152842" "0000351678"
"0000152843" "0000351679"
"0000152844" "0000351680"
"0000173359" "0000393216"
"0000173360" "0000393217"
"0000208376" "0000438212"
"0000267360" "0000598418"
"0000267361" "0000598419"
"0000267362" "0000598420"
"0000286880" "0000642622"
"0000286881" "0000642623"
"0000286882" "0000642624"
"0000286883" "0000642625"
"0000286884" "0000642626"
"0000286885" "0000642627"
"0000286886" "0000642628"
"0000286887" "0000642629"
"0000286888" "0000642630"
"0000286889" "0000642631"
"0000286890" "0000642632"
"0000286891" "0000642633"
"0000286892" "0000642634"
"0000286893" "0000642635"
"0000286894" "0000642636"
"0000286895" "0000642637"
"0000286896" "0000642638"
"0000286897" "0000642639"
"0000286898" "0000642640"
"0000286899" "0000642641"
"0000286900" "0000642642"
"0000286901" "0000642643"
"0000286902" "0000642644"
"0000286903" "0000642645"
"0000308787" "0000683199"
"0000315576" "0000697665"
"0000315577" "0000697666"
"0000389825" "0000819084"
"0000397194" "0000829043"
"0000398696" "0000831080"
"0000410206" "0000847471"