### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRKAR1A) # 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}}" "PRKAR1A" "protein kinase, cAMP-dependent, regulatory, type I, alpha" "17" "q23-q24" "unknown" "LRG_514" "UD_132118558222" "" "http://www.LOVD.nl/PRKAR1A" "" "1" "9388" "5573" "188830" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PRKAR1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-09 21:57:15" "00000" "2025-07-08 13:22:38" ## 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}}" "00024160" "PRKAR1A" "transcript variant 1" "004" "NM_002734.4" "" "NP_002725.1" "" "" "" "-176" "4128" "1146" "66508520" "66529572" "01200" "2016-08-31 09:05:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "00999" "Carney complex" "Carney complex variant" "" "608837" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-08-13 09:29:05" "01160" "ACRDYS1" "acrodysostosis, with/without hormone resistance" "AD" "101800" "" "flat anterior facies, mid-face hypoplasia, hypertelorism, small nose, depressed nasal bridge, short columella, long philtrum, prominent chin; no seizure (-HP:0001250); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); severe brachydactyly, skeletal dysplasia, multiple hormone resistance" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-03 20:04:27" "01213" "BDE1" "brachydactyly type E1 (BD-E1)" "AD" "113300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01459" "CNC1" "Carney complex, type 1 (CNC-1)" "AD" "160980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01583" "NMTC1" "cancer, thyroid, nonmedullary, type 1 (NMTC-1, papillary thyroid carcinoma)" "AD" "188550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01962" "-" "myxoma, intracardiac" "AD" "255960" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02950" "PPNAD1" "adrenocortical disease, nodular, pigmented, primary, type 1 (PPNAD-1)" "AD" "610489" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03686" "ACRDYS2" "acrodysostosis, with/without hormone resistance, type 2" "AD" "614613" "" "flat anterior facies, mid-face hypoplasia, hypertelorism, small nose, depressed nasal bridge, short columella, long philtrum, prominent chin; no seizure (-HP:0001250); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); severe brachydactyly, skeletal dysplasia, multiple hormone resistance" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-03 20:03:14" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05427" "ADPKD" "kidney, polycystic, disease, autosomal dominant (ADPKD)" "" "" "" "" "" "00006" "2018-05-08 22:37:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "PRKAR1A" "01160" "PRKAR1A" "01459" "PRKAR1A" "01583" "PRKAR1A" "01962" "PRKAR1A" "02950" ## Individuals ## Do not remove or alter this header ## ## Count = 59 "{{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}}" "00000011" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "M" "" "" "" "0" "" "" "" "NA04364" "00000012" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000014" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000015" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000016" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000017" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000018" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000021" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000027" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000028" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000031" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000033" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000034" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000035" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000036" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000037" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000038" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000039" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000040" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00036580" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036581" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00079988" "" "" "" "1" "" "01200" "{PMID:Elli et al.2016:26763073}" "" "F" "no" "(Bosnia and Herzegovina)" "" "0" "" "" "" "" "00079989" "" "" "" "1" "" "01200" "{PMID:Elli et al.2016 :26763073}" "" "M" "no" "(Italy)" "" "0" "" "" "" "" "00079990" "" "" "" "1" "" "01200" "{PMID:Elli et al.2016:26763073}" "" "M" "no" "(Italy)" "" "0" "" "" "" "" "00080137" "" "" "" "1" "" "01200" "{PMID:Muhn et al.2013:23425300}" "" "F" "?" "" "" "0" "" "" "" "" "00080148" "" "" "" "1" "" "01200" "{PMID:Muhn et al.2013:23425300 }" "" "F" "?" "" "" "0" "" "" "" "" "00080149" "" "" "" "1" "" "01200" "{PMID:Muhn et al.2013:23425300}" "" "F" "?" "" "" "0" "" "" "" "" "00080150" "" "" "" "1" "" "01200" "{PMID:Muhn et al.2013:23425300}" "" "F" "?" "" "" "0" "" "" "" "" "00080152" "" "" "" "1" "" "01200" "{PMID:Nagasaki et al.2012:22723333}" "" "F" "no" "(Japan)" "" "0" "" "" "" "" "00080154" "" "" "" "1" "" "01200" "{PMID:Li et al.2014:25075981}" "" "F" "no" "(China)" "" "0" "" "" "" "" "00080164" "" "" "" "1" "" "01200" "{PMID:Michot et al:22464250}" "" "F" "?" "" "" "0" "" "" "" "" "00080165" "" "" "" "1" "" "01200" "{PMID:Michot et al.2012:22464250}" "" "F" "?" "" "" "0" "" "" "" "" "00080166" "" "" "" "1" "" "01200" "{PMID:Michot et al.2012:22464250}" "" "F" "?" "" "" "0" "" "" "" "" "00080167" "" "" "" "1" "" "01200" "{PMID:Lee et al.2012:22464252}" "" "M" "?" "" "" "0" "" "" "" "" "00080168" "" "" "" "1" "" "01200" "{PMID:Lee et al.2012:22464252 }" "" "M" "?" "" "" "0" "" "" "" "" "00080174" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "F" "?" "" "" "0" "" "" "" "" "00080175" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "M" "?" "" "" "0" "" "" "" "" "00080176" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "M" "?" "" "" "0" "" "" "" "" "00080179" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "F" "?" "" "" "0" "" "" "" "" "00080180" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "M" "?" "" "" "0" "" "" "" "" "00080691" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "M" "?" "" "" "0" "" "" "" "" "00080692" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "F" "?" "" "" "0" "" "" "" "" "00080693" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "M" "?" "" "" "0" "" "" "" "" "00080694" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "F" "?" "" "" "0" "" "" "" "" "00080696" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "F" "?" "" "" "0" "" "" "" "" "00080697" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "M" "?" "" "" "0" "" "" "" "" "00080698" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "F" "?" "" "" "0" "" "" "" "" "00080699" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "M" "?" "" "" "0" "" "" "" "" "00100342" "" "" "" "1" "" "01744" "NOT PUBLISHED" "" "F" "no" "Morocco" "" "0" "" "" "" "" "00100381" "" "" "" "1" "" "01907" "NOT PUBLISHED" "" "F" "" "(France)" "" "0" "" "" "" "" "00100382" "" "" "" "2" "" "01907" "NOT PUBLISHED" "2-generation family, 2 affecteds, (children and mother)" "M" "" "(France)" "" "0" "" "" "" "" "00100383" "" "" "00100382" "1" "" "01907" "NOT PUBLISHED" "" "F" "" "(France)" "" "0" "" "" "" "" "00100384" "" "" "" "1" "" "01907" "NOT PUBLISHED" "" "F" "" "(France)" "" "0" "" "" "" "" "00132070" "" "" "" "1" "" "01396" "" "" "F" "no" "Brazil" ">13y" "0" "" "" "" "1" "00248448" "" "" "00248445" "1" "" "00006" "{PMID:Dieterich 2013:23236030}" "" "" "yes" "Mali" "" "0" "" "" "Malian" "Fam1Pat4" "00248502" "" "" "" "2" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00385177" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "70" "00436128" "" "" "" "1" "" "03628" "" "" "F" "no" "Hungary" "" "" "" "" "" "" "00446747" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat9" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 56 "{{individualid}}" "{{diseaseid}}" "00000011" "00198" "00000012" "00138" "00000012" "05378" "00000014" "00138" "00000014" "05378" "00000015" "00138" "00000015" "05378" "00000016" "00138" "00000016" "05378" "00000017" "00138" "00000017" "05378" "00000018" "00138" "00000018" "05378" "00000021" "05378" "00000038" "04270" "00000039" "05427" "00036580" "00198" "00036581" "01459" "00079988" "01160" "00079989" "01160" "00079990" "01160" "00080137" "01160" "00080148" "01213" "00080149" "01160" "00080150" "01160" "00080152" "01160" "00080154" "01160" "00080164" "01160" "00080165" "01160" "00080166" "01160" "00080167" "01160" "00080168" "01160" "00080174" "01160" "00080175" "01160" "00080176" "01160" "00080179" "01160" "00080180" "01160" "00080691" "01160" "00080692" "01160" "00080693" "01160" "00080694" "01160" "00080696" "01160" "00080697" "01160" "00080698" "01160" "00080699" "01160" "00100342" "01160" "00100381" "01160" "00100382" "03686" "00100383" "01160" "00100384" "01160" "00132070" "01160" "00248448" "00026" "00248502" "00531" "00385177" "04214" "00436128" "00999" "00446747" "04173" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00138, 00198, 00531, 00999, 01160, 01213, 01459, 01583, 01962, 02950, 03686, 04173, 04214, 04270, 05378, 05427 ## Count = 34 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Length/Stature}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Growth}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000059624" "01160" "00079988" "01200" "Familial, autosomal dominant" "" "advanced bone age, caeliac disease, glucose intolerance with insulin resistance, severe peripheral dysostosis" "" "" "" "08y" "fmelli" "" "" "" "" "" "" "" "" "" "0000059625" "01160" "00079989" "01200" "Unknown" "" "IUGR, neonatal hypoglycemia, enamel dysplasia" "" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "0000059626" "01160" "00079990" "01200" "Unknown" "" "IUGR, neonatal hypoglycemia, gastroesophageal reflux, dysmorphic spines" "" "" "" "10y" "" "" "" "" "" "" "" "" "" "" "0000059712" "01160" "00080137" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, brachydactily, mental retardation, cone-shaped epiphyses, short neck, cafè-au-lait spots" "" "" "" "15y" "fmelli" "" "" "" "" "" "" "" "" "" "0000059714" "01160" "00080149" "01200" "Unknown" "" "short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, sensorineural hearing loss, short neck" "" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "0000059715" "01160" "00080150" "01200" "Unknown" "" "TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, cone-shaped epiphyses" "" "" "" "11y" "" "" "" "" "" "" "" "" "" "" "0000059717" "01160" "00080152" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, IUGR, cone-shaped epiphyses" "" "" "" "3,10y" "" "" "" "" "" "" "" "" "" "" "0000059719" "01160" "00080154" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily" "" "" "" "12y" "" "" "" "" "" "" "" "" "" "" "0000059729" "01160" "00080164" "01200" "Unknown" "" "PTH resistance3, Tsh resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses" "" "" "" "13y" "" "" "" "" "" "" "" "" "" "" "0000059730" "01160" "00080165" "01200" "Unknown" "" "PTH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses" "" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000059731" "01160" "00080166" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, brachydactily, IUGR, cone-shaped epiphyses" "" "" "" "22y" "" "" "" "" "" "" "" "" "" "" "0000059732" "01160" "00080167" "01200" "Unknown" "" "short stature, dysmorphic facies, brachydactily, mental retardation, moderate mixed hearing loss, congenital hypothyroidism, unilateral undescended testis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059733" "01160" "00080168" "01200" "Unknown" "" "short stature, dysmorphic facies, brachydactily, mental retardation" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059739" "01160" "00080174" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, IUGR, cone-shaped epiphyses, advanced bone age" "" "" "" "03y" "" "" "" "" "" "" "" "" "" "" "0000059740" "01160" "00080175" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, +1digit" "" "" "" "14y" "" "" "" "" "" "" "" "" "" "" "0000059741" "01160" "00080176" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily" "" "" "" "24y" "" "" "" "" "" "" "" "" "" "" "0000059743" "01160" "00080179" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance" "" "" "" "20,4y" "" "" "" "" "" "" "" "" "" "" "0000059744" "01160" "00080180" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advaned bone age" "" "" "" "05y" "" "" "" "" "" "" "" "" "" "" "0000060255" "01459" "00036581" "01164" "Unknown" "" "suspected Carney complex" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060256" "00198" "00036580" "01164" "Unknown" "" "myxoma (HP:0011672) large left atrial, abnormal skin pigmentation (HP:0001000)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060263" "01160" "00080691" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA" "" "" "" "24y" "" "" "" "" "" "" "" "" "" "" "0000060264" "01160" "00080692" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance" "" "" "" "16y" "" "" "" "" "" "" "" "" "" "" "0000060265" "01160" "00080693" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age" "" "" "" "11y" "" "" "" "" "" "" "" "" "" "" "0000060266" "01160" "00080694" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, FSH resistance" "" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "0000060268" "01160" "00080696" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, FSH resistance" "" "" "" "4,5y" "" "" "" "" "" "" "" "" "" "" "0000060269" "01160" "00080697" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA" "" "" "" "11y" "" "" "" "" "" "" "" "" "" "" "0000060270" "01160" "00080698" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, SGA" "" "" "" "8,6y" "" "" "" "" "" "" "" "" "" "" "0000060271" "01160" "00080699" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, SGA" "" "" "" "12,6y" "" "" "" "" "" "" "" "" "" "" "0000073819" "01213" "00080148" "01199" "Unknown" "44y" "Short stature, short IV metacarpal and distal\r\nphalanx of the thumb (I)" "" "" "" "44y" "" "" "" "" "" "" "" "" "" "" "0000104275" "01160" "00132070" "01396" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187439" "00026" "00248448" "00006" "Familial, autosomal recessive" "" "see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound" "" "1d" "" "" "" "" "" "" "" "" "" "DA-5D" "distal arthrogryposis" "" "0000278973" "04214" "00385177" "00000" "Familial, autosomal dominant" "0m" "HP:0001789 Hydrops fetalis; HP:0001319 Neonatal hypotonia; HP:0001263 Global developmental delay; HP:0000541 Retinal detachment; HP:0007973 Retinal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Acrodysostosis type1" "" "0000326312" "00999" "00436128" "03628" "Familial" "17y" "multiple cutaneous myxomas HP:0030428\r\nleft atrial myxoma HP:0011672\r\nblue nevus HP:0100814" "" "" "" "17y" "" "" "" "" "" "" "" "carney vomplex" "carney complex" "" "0000335951" "04173" "00446747" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" ## Screenings ## Do not remove or alter this header ## ## Count = 59 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000011" "00000011" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2021-10-11 11:49:29" "SEQ-NG" "DNA" "" "" "0000000012" "00000012" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000014" "00000014" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000015" "00000015" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000016" "00000016" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000017" "00000017" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000018" "00000018" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000021" "00000021" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000027" "00000027" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000028" "00000028" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000031" "00000031" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000033" "00000033" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000034" "00000034" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000035" "00000035" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000036" "00000036" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000037" "00000037" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000038" "00000038" "1" "00004" "" "2012-05-11 13:18:45" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000039" "00000039" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000040" "00000040" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000036650" "00036580" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036651" "00036581" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000080067" "00079988" "1" "01200" "01200" "2016-08-31 08:47:45" "" "" "SEQ" "DNA" "blood" "" "0000080068" "00079989" "1" "01200" "01200" "2016-08-31 09:09:05" "" "" "SEQ" "DNA" "blood" "" "0000080069" "00079990" "1" "01200" "01200" "2016-08-31 09:19:15" "" "" "SEQ" "DNA" "blood" "" "0000080231" "00080137" "1" "01200" "01200" "2016-09-02 08:48:51" "" "" "SEQ" "DNA" "blood" "" "0000080242" "00080148" "1" "01200" "01200" "2016-09-02 09:39:43" "" "" "SEQ" "DNA" "blood" "" "0000080243" "00080149" "1" "01200" "01200" "2016-09-02 09:52:43" "" "" "SEQ" "DNA" "blood" "" "0000080244" "00080150" "1" "01200" "01200" "2016-09-02 10:26:09" "" "" "SEQ" "DNA" "blood" "" "0000080246" "00080152" "1" "01200" "01200" "2016-09-02 10:50:06" "" "" "SEQ" "DNA" "blood" "" "0000080248" "00080154" "1" "01200" "01200" "2016-09-02 11:39:37" "" "" "SEQ" "DNA" "blood" "" "0000080258" "00080164" "1" "01200" "01200" "2016-09-02 14:16:30" "" "" "SEQ" "DNA" "blood" "" "0000080259" "00080165" "1" "01200" "01200" "2016-09-02 14:26:26" "" "" "SEQ" "DNA" "blood" "" "0000080260" "00080166" "1" "01200" "01200" "2016-09-02 14:29:45" "" "" "SEQ" "DNA" "blood" "" "0000080261" "00080167" "1" "01200" "01200" "2016-09-02 14:47:08" "" "" "SEQ" "DNA" "blood" "" "0000080262" "00080168" "1" "01200" "01200" "2016-09-02 14:50:51" "" "" "SEQ" "DNA" "blood" "" "0000080267" "00080174" "1" "01200" "01200" "2016-09-02 15:55:33" "" "" "SEQ" "DNA" "blood" "" "0000080269" "00080175" "1" "01200" "01200" "2016-09-02 15:59:53" "" "" "SEQ" "DNA" "blood" "" "0000080270" "00080176" "1" "01200" "01200" "2016-09-02 16:06:34" "" "" "SEQ" "DNA" "blood" "" "0000080272" "00080179" "1" "01200" "01200" "2016-09-02 16:15:10" "" "" "SEQ" "DNA" "blood" "" "0000080273" "00080180" "1" "01200" "01200" "2016-09-02 16:20:18" "" "" "SEQ" "DNA" "blood" "" "0000080784" "00080691" "1" "01200" "01200" "2016-09-05 09:56:09" "" "" "SEQ" "DNA" "blood" "" "0000080785" "00080692" "1" "01200" "01200" "2016-09-05 10:03:18" "" "" "SEQ" "DNA" "blood" "" "0000080786" "00080693" "1" "01200" "01200" "2016-09-05 10:17:01" "" "" "SEQ" "DNA" "blood" "" "0000080787" "00080694" "1" "01200" "01200" "2016-09-05 10:20:35" "" "" "SEQ" "DNA" "blood" "" "0000080789" "00080696" "1" "01200" "01200" "2016-09-05 10:29:21" "" "" "SEQ" "DNA" "blood" "" "0000080790" "00080697" "1" "01200" "01200" "2016-09-05 10:32:37" "" "" "SEQ" "DNA" "blood" "" "0000080791" "00080698" "1" "01200" "01200" "2016-09-05 10:35:27" "" "" "SEQ" "DNA" "blood" "" "0000080792" "00080699" "1" "01200" "01200" "2016-09-05 10:38:26" "" "" "SEQ" "DNA" "blood" "" "0000100746" "00100342" "1" "01744" "01744" "2017-02-13 11:43:10" "" "" "SEQ" "DNA" "peripheral blood" "" "0000100785" "00100381" "1" "01907" "01199" "2017-02-17 10:14:56" "" "" "SEQ-NG" "DNA" "peripheral blood" "" "0000100786" "00100382" "1" "01907" "01199" "2017-02-17 10:19:26" "" "" "SEQ-NG" "DNA" "peripheral blood" "" "0000100787" "00100383" "1" "01907" "01199" "2017-02-17 10:24:43" "" "" "SEQ-NG" "DNA" "peripheral blood" "" "0000100788" "00100384" "1" "01907" "01199" "2017-02-17 10:28:05" "" "" "SEQ-NG" "DNA" "peripheral blood" "" "0000132909" "00132070" "1" "01396" "01396" "2017-10-18 18:30:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000249552" "00248448" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249606" "00248502" "1" "00000" "00006" "2011-10-21 16:34:54" "" "" "SEQ" "DNA" "" "" "0000386406" "00385177" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000437609" "00436128" "1" "03628" "03628" "2023-08-11 18:43:20" "" "" "MLPA;PCR;PCRm;RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "" "" "0000448322" "00446747" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 246 "{{screeningid}}" "{{geneid}}" "0000000011" "ACADM" "0000000011" "ADA" "0000000011" "ATP7B" "0000000011" "ATR" "0000000011" "CFTR" "0000000011" "DMD" "0000000011" "DPYD" "0000000011" "GLB1" "0000000011" "IGHMBP2" "0000000011" "NHLRC1" "0000000011" "SERPINA1" "0000000011" "SMPD1" "0000000011" "TNNT1" "0000000012" "ACADVL" "0000000012" "ADA" "0000000012" "AGL" "0000000012" "ATP7B" "0000000012" "CYP21A2" "0000000012" "DPYD" "0000000012" "ETFB" "0000000012" "GBA" "0000000012" "HGSNAT" "0000000012" "IGHMBP2" "0000000012" "LAMA2" "0000000012" "MYO5A" "0000000012" "NHLRC1" "0000000012" "NPHS1" "0000000012" "SERPINA1" "0000000012" "SLC26A2" "0000000014" "ALG6" "0000000014" "ATP7B" "0000000014" "CFTR" "0000000014" "DPYD" "0000000014" "ETFB" "0000000014" "GLB1" "0000000014" "GNPTAB" "0000000014" "HEXB" "0000000014" "IGHMBP2" "0000000014" "MYO5A" "0000000014" "NHLRC1" "0000000014" "NPHP4" "0000000014" "NPHS1" "0000000014" "PKHD1" "0000000014" "SERPINA1" "0000000014" "SFTPB" "0000000014" "SGSH" "0000000014" "TSFM" "0000000015" "ALG6" "0000000015" "ARSB" "0000000015" "ATP7B" "0000000015" "BMPR2" "0000000015" "DPYD" "0000000015" "ETFB" "0000000015" "GALC" "0000000015" "GLB1" "0000000015" "NHLRC1" "0000000015" "NPHS1" "0000000015" "SERPINA1" "0000000015" "TGM1" "0000000016" "ADA" "0000000016" "ALG6" "0000000016" "ATP7B" "0000000016" "CFTR" "0000000016" "DPYD" "0000000016" "ENPP1" "0000000016" "GLB1" "0000000016" "IGHMBP2" "0000000016" "NPHS1" "0000000016" "PKHD1" "0000000017" "ALG6" "0000000017" "ASPA" "0000000017" "ATP7B" "0000000017" "DPYD" "0000000017" "GLB1" "0000000017" "LAMA2" "0000000017" "MMACHC" "0000000017" "MPL" "0000000017" "MYO5A" "0000000017" "NHLRC1" "0000000017" "NPHS1" "0000000017" "SERPINA1" "0000000017" "SMPD1" "0000000018" "ALG6" "0000000018" "ASPA" "0000000018" "ATP7B" "0000000018" "DPYD" "0000000018" "GLB1" "0000000018" "LAMA2" "0000000018" "MMACHC" "0000000018" "MPL" "0000000018" "MYO5A" "0000000018" "NHLRC1" "0000000018" "NPHS1" "0000000018" "SERPINA1" "0000000018" "SMPD1" "0000000021" "ALPL" "0000000021" "BTD" "0000000021" "CBS" "0000000021" "DKC1" "0000000021" "ETFB" "0000000021" "GLB1" "0000000021" "SBDS" "0000000021" "SERPINA1" "0000000027" "AMPD1" "0000000027" "ARSB" "0000000027" "ATP7B" "0000000027" "CBS" "0000000027" "CFTR" "0000000027" "DPYD" "0000000027" "ETFB" "0000000027" "HEXB" "0000000027" "MYO5A" "0000000027" "NHLRC1" "0000000027" "NPC1" "0000000027" "NPHS1" "0000000027" "SLC26A2" "0000000028" "ALG1" "0000000028" "AMPD1" "0000000028" "ATP7B" "0000000028" "BTD" "0000000028" "CBS" "0000000028" "CLN3" "0000000028" "CYP21A2" "0000000028" "FGG" "0000000028" "GALC" "0000000028" "GLB1" "0000000028" "JAK3" "0000000028" "NPHS1" "0000000028" "RAG2" "0000000028" "RPGRIP1L" "0000000028" "SERPINA1" "0000000028" "SLC26A2" "0000000031" "ADA" "0000000031" "ATP7B" "0000000031" "CYP21A2" "0000000031" "DPYD" "0000000031" "ETFB" "0000000031" "FKTN" "0000000031" "GAA" "0000000031" "GLB1" "0000000031" "IGHMBP2" "0000000031" "NHLRC1" "0000000031" "NPHS1" "0000000031" "SERPINA1" "0000000031" "TMEM67" "0000000031" "WNT10A" "0000000033" "ATP7B" "0000000033" "CDH23" "0000000033" "CYP21A2" "0000000033" "DPYD" "0000000033" "ETFB" "0000000033" "GAA" "0000000033" "HADHA" "0000000033" "HESX1" "0000000033" "NHLRC1" "0000000033" "PHEX" "0000000033" "SERPINA1" "0000000033" "USH2A" "0000000034" "ATP7B" "0000000034" "CBS" "0000000034" "CYP21A2" "0000000034" "DPYD" "0000000034" "ETFB" "0000000034" "GLB1" "0000000034" "GNPTAB" "0000000034" "IGHMBP2" "0000000034" "NHLRC1" "0000000034" "SERPINA1" "0000000034" "SLC26A2" "0000000034" "SMPD1" "0000000035" "ADA" "0000000035" "ATP7B" "0000000035" "BLM" "0000000035" "CFTR" "0000000035" "DPYD" "0000000035" "ETFB" "0000000035" "GLB1" "0000000035" "HBB" "0000000035" "IGHMBP2" "0000000035" "MYO5A" "0000000035" "PKHD1" "0000000035" "SERPINA1" "0000000035" "SMPD1" "0000000036" "AHI1" "0000000036" "ATP7B" "0000000036" "CYP21A2" "0000000036" "DPYD" "0000000036" "ETFB" "0000000036" "GLB1" "0000000036" "HEXB" "0000000036" "LAMA2" "0000000036" "SMPD1" "0000000037" "ATM" "0000000037" "ATP7B" "0000000037" "DPYD" "0000000037" "ETFB" "0000000037" "HEXB" "0000000037" "NHLRC1" "0000000037" "NPHS1" "0000000037" "SBDS" "0000000037" "SLC26A2" "0000000037" "SLC3A1" "0000000037" "SMN1" "0000000037" "SMPD1" "0000000038" "ALS2" "0000000038" "ATP7B" "0000000038" "CFTR" "0000000038" "DPYD" "0000000038" "GLB1" "0000000038" "HEXB" "0000000038" "MTHFR" "0000000038" "MYO5A" "0000000038" "NHLRC1" "0000000038" "SMPD1" "0000000039" "AHI1" "0000000039" "ATP7B" "0000000039" "DPYD" "0000000039" "ETFB" "0000000039" "GAA" "0000000039" "GLB1" "0000000039" "LAMA2" "0000000039" "MTHFR" "0000000039" "NPHP4" "0000000039" "NPHS1" "0000000039" "P3H1" "0000000039" "SBDS" "0000000039" "SLC26A2" "0000000040" "ATP7A" "0000000040" "DPYD" "0000000040" "GLB1" "0000000040" "LAMA2" "0000036650" "PRKAR1A" "0000036651" "PRKAR1A" "0000100746" "PRKAR1A" "0000100785" "PRKAR1A" "0000100786" "PRKAR1A" "0000100787" "PRKAR1A" "0000100788" "PRKAR1A" "0000132909" "ADAMTSL2" "0000132909" "FBN1" "0000132909" "GNAS" "0000132909" "PRKAR1A" "0000249552" "ECEL1" "0000249606" "COL9A3" "0000386406" "PRKAR1A" "0000437609" "PRKAR1A" ## 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 = 84 "{{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}}" "0000000015" "0" "50" "1" "63872032" "63872032" "subst" "0.0303895" "00002" "ALG6_000005" "g.63872032T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63406361T>C" "" "VUS" "" "0000000016" "0" "50" "1" "63872032" "63872032" "subst" "0.0303895" "00002" "ALG6_000005" "g.63872032T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63406361T>C" "" "VUS" "" "0000000017" "0" "50" "1" "63872032" "63872032" "subst" "0.0303895" "00002" "ALG6_000005" "g.63872032T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63406361T>C" "" "VUS" "" "0000000018" "0" "50" "1" "63872032" "63872032" "subst" "0.0303895" "00002" "ALG6_000005" "g.63872032T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63406361T>C" "" "VUS" "" "0000000019" "0" "50" "1" "63872032" "63872032" "subst" "0.0303895" "00002" "ALG6_000005" "g.63872032T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63406361T>C" "" "VUS" "" "0000000022" "0" "50" "1" "21889760" "21889760" "subst" "0.0115737" "00002" "ALPL_000002" "g.21889760G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.21563267G>A" "" "pathogenic (recessive)" "" "0000000028" "0" "50" "1" "115231254" "115231254" "subst" "0.0877526" "00002" "AMPD1_000001" "g.115231254G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.114688633G>A" "" "VUS" "" "0000000029" "0" "50" "1" "115231254" "115231254" "subst" "0.0877526" "00002" "AMPD1_000001" "g.115231254G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.114688633G>A" "" "VUS" "" "0000000032" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000000034" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000000035" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000000036" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000000037" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000000038" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000000039" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000000040" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000000042" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000000043" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000000044" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000000045" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000000047" "0" "50" "1" "97981395" "97981395" "subst" "0.196812" "00002" "DPYD_000001" "g.97981395T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.97515839T>C" "" "VUS" "" "0000063775" "1" "90" "17" "66520207" "66520208" "del" "0" "01164" "PRKAR1A_000001" "g.66520207_66520208del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68524066_68524067del" "" "pathogenic" "" "0000063776" "1" "90" "17" "66521051" "66521051" "subst" "0" "01164" "PRKAR1A_000002" "g.66521051A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68524910A>T" "" "pathogenic" "" "0000128944" "21" "77" "17" "66521970" "66521970" "subst" "0" "01200" "PRKAR1A_000004" "g.66521970A>G" "" "{PMID:Elli et al. 2016:26763073}" "" "" "" "Germline" "?" "" "0" "" "" "g.68525829A>G" "" "likely pathogenic" "" "0000129198" "0" "77" "17" "66526546" "66526546" "subst" "0" "01200" "PRKAR1A_000010" "g.66526546C>T" "" "{PMID:Muhn et al. 2013:23425300}" "" "" "" "De novo" "?" "" "0" "" "" "g.68530405C>T" "" "likely pathogenic" "" "0000129202" "0" "77" "17" "66525107" "66525107" "subst" "0" "01200" "PRKAR1A_000013" "g.66525107G>A" "" "{PMID:Li et al. 2014:25075981}" "" "" "" "De novo" "?" "" "0" "" "" "g.68528966G>A" "" "likely pathogenic" "" "0000129212" "0" "77" "17" "66526546" "66526546" "subst" "0" "01200" "PRKAR1A_000010" "g.66526546C>T" "" "{PMID:Michot et al. 2012:22464250}" "" "" "" "Germline" "?" "" "0" "" "" "g.68530405C>T" "" "likely pathogenic" "" "0000129215" "0" "77" "17" "66526424" "66526424" "subst" "0" "01200" "PRKAR1A_000015" "g.66526424T>C" "" "{PMID:Lee et al. 2012:22464252 }" "" "" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000129216" "0" "77" "17" "66526448" "66526448" "subst" "0" "01200" "PRKAR1A_000016" "g.66526448G>C" "" "{PMID:Lee et al. 2012:22464252 }" "" "" "" "Germline" "?" "" "0" "" "" "g.68530307G>C" "" "likely pathogenic" "" "0000129224" "0" "77" "17" "66525107" "66525107" "subst" "0" "01200" "PRKAR1A_000013" "g.66525107G>A" "" "{PMID:Linglart et al. 2012:23043190}" "" "" "" "Germline" "?" "" "0" "" "" "g.68528966G>A" "" "likely pathogenic" "" "0000163159" "1" "70" "17" "66521967" "66521967" "subst" "0" "01907" "PRKAR1A_000021" "g.66521967G>A" "" "NOT PUBLISHED" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68525826G>A" "" "likely pathogenic" "" "0000163160" "21" "90" "17" "66526555" "66526555" "subst" "0" "01907" "PRKAR1A_000022" "g.66526555C>T" "" "NOT PUBLISHED" "" "" "" "Germline" "yes" "" "0" "" "" "g.68530414C>T" "" "pathogenic" "" "0000163161" "1" "90" "17" "66526555" "66526555" "subst" "0" "01907" "PRKAR1A_000022" "g.66526555C>T" "" "NOT PUBLISHED" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.68530414C>T" "" "pathogenic" "" "0000163162" "1" "70" "17" "66521057" "66521059" "del" "0" "01907" "PRKAR1A_000023" "g.66521057_66521059del" "" "NOT PUBLISHED" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68524916_68524918del" "" "likely pathogenic" "" "0000222091" "0" "70" "17" "66526546" "66526546" "subst" "0" "01396" "PRKAR1A_000010" "g.66526546C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68530405C>T" "" "likely pathogenic" "" "0000250235" "0" "10" "17" "66521877" "66521877" "subst" "0.00722754" "02329" "PRKAR1A_000028" "g.66521877A>G" "" "" "" "PRKAR1A(NM_002734.5):c.550-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68525736A>G" "" "benign" "" "0000276580" "0" "50" "17" "66538123" "66538123" "subst" "0" "01943" "FAM20A_000006" "g.66538123C>A" "" "" "" "FAM20A(NM_001243746.1):c.695+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68541982C>A" "" "VUS" "" "0000297355" "0" "10" "17" "66519861" "66519861" "dup" "0" "02325" "PRKAR1A_000026" "g.66519861dup" "" "" "" "PRKAR1A(NM_212471.3):c.349-4delCinsTC, PRKAR1A(NM_212471.3):c.349-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68523720dup" "" "benign" "" "0000299080" "0" "10" "17" "66511627" "66511627" "subst" "0.0179366" "02329" "PRKAR1A_000024" "g.66511627G>A" "" "" "" "PRKAR1A(NM_001276289.1):c.87G>A (p.(Ala29=)), PRKAR1A(NM_002734.5):c.87G>A (p.A29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68515486G>A" "" "benign" "" "0000301209" "0" "30" "17" "66518940" "66518940" "subst" "0.00039429" "02326" "PRKAR1A_000025" "g.66518940G>A" "" "" "" "PRKAR1A(NM_001369389.1):c.221G>A (p.R74H), PRKAR1A(NM_002734.5):c.221G>A (p.R74H), PRKAR1A(NM_212471.2):c.221G>A (p.R74H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68522799G>A" "" "likely benign" "" "0000301210" "0" "10" "17" "66519972" "66519972" "subst" "0.00122822" "02326" "PRKAR1A_000027" "g.66519972T>C" "" "" "" "PRKAR1A(NM_212471.2):c.440+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68523831T>C" "" "benign" "" "0000347210" "0" "10" "17" "66533655" "66533655" "subst" "0.71316" "02327" "FAM20A_000007" "g.66533655A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68537514A>G" "" "benign" "" "0000562864" "0" "70" "17" "66526546" "66526546" "subst" "0" "01804" "PRKAR1A_000010" "g.66526546C>T" "" "" "" "PRKAR1A(NM_001276289.1):c.1102C>T (p.(Arg368Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68530405C>T" "" "likely pathogenic" "" "0000616775" "0" "50" "17" "66547263" "66547263" "subst" "0" "01804" "FAM20A_000030" "g.66547263T>G" "" "" "" "PRKAR1A(NM_001276290.1):c.1012T>G (p.*338Eext*7, p.(*338Gluext*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68551122T>G" "" "VUS" "" "0000680992" "0" "50" "17" "66547263" "66547263" "subst" "0" "01943" "FAM20A_000030" "g.66547263T>G" "" "" "" "PRKAR1A(NM_001276290.1):c.1012T>G (p.*338Eext*7, p.(*338Gluext*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692449" "0" "50" "17" "66521899" "66521899" "subst" "8.12308E-6" "02327" "FAM20A_000031" "g.66521899A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726636" "0" "50" "17" "66416504" "66416504" "subst" "0.00261967" "01943" "SLC16A6_000009" "g.66416504T>C" "" "" "" "ARSG(NM_014960.4):c.1478T>C (p.I493T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726637" "0" "90" "17" "66526546" "66526546" "subst" "0" "02327" "PRKAR1A_000010" "g.66526546C>T" "" "" "" "PRKAR1A(NM_001276289.1):c.1102C>T (p.(Arg368Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808233" "0" "10" "17" "66520112" "66520112" "subst" "0.00487398" "02369" "FAM20A_000032" "g.66520112G>A" "" "" "" "PRKAR1A(NM_212471.2):c.441-45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000813905" "0" "70" "17" "66526546" "66526546" "subst" "0" "00000" "PRKAR1A_000010" "g.66526546C>T" "" "{PMID:Jiman 2020:31836858}" "" "PRKAR1A;NM_002734.4;c.[1102C>T];[1102=]p.[(Arg368*)];[(Arg368=)];" "heterozygous" "Unknown" "?" "" "0" "" "" "g.68530405C>T" "" "likely pathogenic" "" "0000865470" "0" "10" "17" "66511627" "66511627" "subst" "0.0179366" "01804" "PRKAR1A_000024" "g.66511627G>A" "" "" "" "PRKAR1A(NM_001276289.1):c.87G>A (p.(Ala29=)), PRKAR1A(NM_002734.5):c.87G>A (p.A29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865471" "0" "50" "17" "66523997" "66523997" "subst" "0" "01943" "FAM20A_000037" "g.66523997A>C" "" "" "" "PRKAR1A(NM_212471.2):c.725A>C (p.K242T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865472" "0" "30" "17" "66526473" "66526473" "subst" "0.000568657" "01943" "FAM20A_000038" "g.66526473C>T" "" "" "" "PRKAR1A(NM_001369389.1):c.1029C>T (p.G343=), PRKAR1A(NM_212471.2):c.1029C>T (p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865473" "0" "30" "17" "66533733" "66533733" "subst" "0.0014996" "01804" "FAM20A_000039" "g.66533733G>A" "" "" "" "FAM20A(NM_001243746.1):c.1097C>T (p.(Thr366Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914959" "0" "30" "17" "66551845" "66551845" "subst" "0.00060102" "02326" "FAM20A_000041" "g.66551845G>A" "" "" "" "FAM20A(NM_017565.4):c.444C>T (p.S148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000932922" "0" "90" "17" "66498293" "66508954" "del" "0" "03628" "PRKAR1A_000030" "g.66498293_66508954del" "" "" "" "c.-10403_-7+265del" "" "Germline" "yes" "" "0" "" "" "g.68502152_68512813del" "" "pathogenic" "ACMG" "0000951023" "0" "50" "17" "66551763" "66551763" "subst" "0.000142125" "01804" "FAM20A_000043" "g.66551763G>C" "" "" "" "FAM20A(NM_001243746.1):c.112C>G (p.(Arg38Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000957729" "0" "70" "17" "66525109" "66525109" "dup" "0" "00006" "PRKAR1A_000031" "g.66525109dup" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68528968dup" "" "likely pathogenic" "" "0000969196" "0" "50" "17" "66511611" "66511611" "subst" "8.12176E-6" "02327" "FAM20A_000044" "g.66511611A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969197" "0" "30" "17" "66511643" "66511643" "subst" "0.000117766" "02325" "FAM20A_000045" "g.66511643A>G" "" "" "" "PRKAR1A(NM_002734.5):c.103A>G (p.I35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969198" "0" "30" "17" "66518902" "66518902" "subst" "0" "02330" "FAM20A_000046" "g.66518902G>A" "" "" "" "PRKAR1A(NM_001369389.1):c.183G>A (p.E61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969199" "0" "30" "17" "66518940" "66518940" "subst" "0.00039429" "02330" "PRKAR1A_000025" "g.66518940G>A" "" "" "" "PRKAR1A(NM_001369389.1):c.221G>A (p.R74H), PRKAR1A(NM_002734.5):c.221G>A (p.R74H), PRKAR1A(NM_212471.2):c.221G>A (p.R74H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969200" "0" "30" "17" "66519898" "66519898" "subst" "8.53464E-5" "02330" "FAM20A_000047" "g.66519898T>C" "" "" "" "PRKAR1A(NM_001369389.1):c.381T>C (p.A127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969201" "0" "30" "17" "66526473" "66526473" "subst" "0.000568657" "02330" "FAM20A_000038" "g.66526473C>T" "" "" "" "PRKAR1A(NM_001369389.1):c.1029C>T (p.G343=), PRKAR1A(NM_212471.2):c.1029C>T (p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969202" "0" "30" "17" "66547208" "66547208" "subst" "0.000753693" "02330" "FAM20A_000048" "g.66547208G>A" "" "" "" "PRKAR1A(NM_001276290.1):c.974-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969203" "0" "30" "17" "66547249" "66547249" "subst" "0.167823" "02329" "FAM20A_000049" "g.66547249G>A" "" "" "" "PRKAR1A(NM_001276290.1):c.998G>A (p.S333N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982740" "0" "30" "17" "66525002" "66525002" "subst" "0.00109326" "02330" "FAM20A_000050" "g.66525002G>T" "" "" "" "PRKAR1A(NM_001369389.1):c.770-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982741" "0" "50" "17" "66526133" "66526133" "subst" "0" "02327" "FAM20A_000051" "g.66526133G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982742" "0" "30" "17" "66535468" "66535468" "subst" "8.12354E-6" "01804" "FAM20A_000052" "g.66535468G>T" "" "" "" "FAM20A(NM_017565.4):c.1361+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982743" "0" "30" "17" "66535525" "66535525" "subst" "0.000536028" "02326" "FAM20A_000053" "g.66535525G>A" "" "" "" "FAM20A(NM_017565.4):c.1314C>T (p.H438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982744" "0" "50" "17" "66538223" "66538223" "subst" "0.000418376" "01804" "FAM20A_000054" "g.66538223C>T" "" "" "" "FAM20A(NM_017565.4):c.1012G>A (p.(Gly338Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003618" "0" "30" "17" "66520205" "66520205" "subst" "0.000203095" "02330" "FAM20A_000055" "g.66520205T>C" "" "" "" "PRKAR1A(NM_001369389.1):c.489T>C (p.T163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003619" "0" "50" "17" "66538952" "66538952" "subst" "1.21844E-5" "01804" "FAM20A_000002" "g.66538952T>C" "" "" "" "PRKAR1A(NM_001276290.1):c.974-8273T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015607" "0" "50" "17" "66511724" "66511724" "subst" "0" "02330" "FAM20A_000056" "g.66511724A>G" "" "" "" "PRKAR1A(NM_001369389.1):c.177+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015608" "0" "30" "17" "66518923" "66518923" "subst" "0.00113384" "02329" "FAM20A_000057" "g.66518923G>A" "" "" "" "PRKAR1A(NM_002734.5):c.204G>A (p.L68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027048" "0" "30" "17" "66511747" "66511747" "subst" "0.00197331" "02329" "FAM20A_000058" "g.66511747T>G" "" "" "" "PRKAR1A(NM_002734.5):c.177+30T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027049" "0" "30" "17" "66518940" "66518940" "subst" "0.00039429" "02325" "PRKAR1A_000025" "g.66518940G>A" "" "" "" "PRKAR1A(NM_001369389.1):c.221G>A (p.R74H), PRKAR1A(NM_002734.5):c.221G>A (p.R74H), PRKAR1A(NM_212471.2):c.221G>A (p.R74H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027050" "0" "70" "17" "66521074" "66521074" "subst" "0" "02325" "PRKAR1A_000003" "g.66521074A>G" "" "" "" "PRKAR1A(NM_002734.5):c.524A>G (p.Y175C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042133" "0" "30" "17" "66519090" "66519090" "subst" "0.000356938" "01804" "FAM20A_000059" "g.66519090G>A" "" "" "" "PRKAR1A(NM_002734.5):c.348+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042134" "0" "50" "17" "66521095" "66521095" "subst" "8.13068E-6" "01804" "FAM20A_000060" "g.66521095C>T" "" "" "" "PRKAR1A(NM_002734.5):c.545C>T (p.(Thr182Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042135" "0" "50" "17" "66538124" "66538127" "del" "0" "01804" "FAM20A_000061" "g.66538124_66538127del" "" "" "" "FAM20A(NM_017565.4):c.1109+3_1109+6del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042136" "0" "30" "17" "66538153" "66538153" "subst" "5.29126E-5" "01804" "FAM20A_000062" "g.66538153C>T" "" "" "" "FAM20A(NM_017565.4):c.1082G>A (p.(Arg361His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042137" "0" "30" "17" "66538315" "66538323" "del" "0" "01804" "FAM20A_000063" "g.66538315_66538323del" "" "" "" "FAM20A(NM_017565.4):c.929-11_929-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046667" "0" "50" "17" "66511679" "66511679" "subst" "1.62464E-5" "02325" "FAM20A_000064" "g.66511679A>G" "" "" "" "PRKAR1A(NM_002734.5):c.139A>G (p.M47V)" "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 PRKAR1A ## Count = 84 "{{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}}" "0000000015" "00024160" "77" "806" "0" "806" "0" "c.806A>G" "r.(806a>g)" "p.(Asp269Gly)" "9" "0000000016" "00024160" "77" "879" "0" "879" "0" "c.879C>G" "r.(879c>g)" "p.(Phe293Leu)" "9" "0000000017" "00024160" "77" "637" "0" "637" "0" "c.637G>A" "r.(637g>a)" "p.(Ala213Thr)" "7" "0000000018" "00024160" "33" "679" "0" "679" "0" "c.679G>A" "r.(679g>a)" "p.(Asp227Asn)" "7" "0000000019" "00024160" "77" "1003" "0" "1003" "0" "c.1003C>T" "r.(1003c>u)" "p.(Arg335Cys)" "11" "0000000022" "00024160" "77" "715" "0" "715" "0" "c.715A>G" "r.(715a>g)" "p.(Thr239Ala)" "8" "0000000028" "00024160" "77" "1102" "0" "1102" "0" "c.1102C>T" "r.(1102c>u)" "p.(Arg368*)" "11" "0000000029" "00024160" "77" "1117" "0" "1117" "0" "c.1117T>C" "r.(1117u>c)" "p.(Tyr373His)" "11" "0000000032" "00024160" "77" "854" "0" "854" "0" "c.854A>G" "r.(854a>g)" "p.(Gln285Arg)" "9" "0000000034" "00024160" "77" "983" "0" "983" "0" "c.983C>T" "r.(?)" "p.(Ala328Val)" "11" "0000000035" "00024160" "77" "1114" "0" "1114" "0" "c.1114C>T" "r.(1114c>u)" "p.(Gln372*)" "11" "0000000036" "00024160" "77" "1004" "0" "1004" "0" "c.1004G>T" "r.(1004g>u)" "p.(Arg335Leu)" "11" "0000000037" "00024160" "77" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "11" "0000000038" "00024160" "77" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "11" "0000000039" "00024160" "77" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "11" "0000000040" "00024160" "77" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "11" "0000000042" "00024160" "77" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "11" "0000000043" "00024160" "77" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "11" "0000000044" "00024160" "77" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "11" "0000000045" "00024160" "77" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "11" "0000000047" "00024160" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "11" "0000063775" "00024160" "90" "491" "0" "492" "0" "c.491_492del" "r.(491_492del)" "p.(Val164Aspfs*5)" "5" "0000063776" "00024160" "90" "503" "-2" "503" "-2" "c.503-2A>T" "r.spl" "p.?" "" "0000128944" "00024160" "77" "625" "0" "625" "0" "c.625A>G" "r.(?)" "p.(Thr209Ala)" "7" "0000129198" "00024160" "77" "1102" "0" "1102" "0" "c.1102C>T" "r.(1102c>u)" "p.(Arg368*)" "11" "0000129202" "00024160" "73" "866" "0" "866" "0" "c.866G>A" "r.(?)" "p.(Gly289Glu)" "9" "0000129212" "00024160" "77" "1102" "0" "1102" "0" "c.1102C>T" "r.(1102c>u)" "p.(Arg368*)" "11" "0000129215" "00024160" "77" "980" "0" "980" "0" "c.980T>C" "r.(?)" "p.(Ile327Thr)" "" "0000129216" "00024160" "77" "1004" "0" "1004" "0" "c.1004G>C" "r.(1004g>c)" "p.(Arg335Pro)" "11" "0000129224" "00024160" "77" "866" "0" "866" "0" "c.866G>A" "r.(866g>a)" "p.(Gly289Glu)" "9" "0000163159" "00024160" "70" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Gly208Arg)" "7" "0000163160" "00024160" "90" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Gln371*)" "11" "0000163161" "00024160" "90" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Gln371*)" "11" "0000163162" "00024160" "70" "507" "0" "509" "0" "c.507_509del" "r.(?)" "p.(Asp169del)" "6" "0000222091" "00024160" "99" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "11" "0000250235" "00024160" "10" "550" "-18" "550" "-18" "c.550-18A>G" "r.(=)" "p.(=)" "" "0000276580" "00024160" "50" "12679" "0" "12679" "0" "c.*11533C>A" "r.(=)" "p.(=)" "" "0000297355" "00024160" "10" "349" "-5" "349" "-5" "c.349-5dup" "r.spl?" "p.?" "" "0000299080" "00024160" "10" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Ala29=)" "" "0000301209" "00024160" "30" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Arg74His)" "" "0000301210" "00024160" "10" "440" "15" "440" "15" "c.440+15T>C" "r.(=)" "p.(=)" "" "0000347210" "00024160" "10" "8211" "0" "8211" "0" "c.*7065A>G" "r.(=)" "p.(=)" "" "0000562864" "00024160" "70" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Ter)" "" "0000616775" "00024160" "50" "21819" "0" "21819" "0" "c.*20673T>G" "r.(=)" "p.(=)" "" "0000680992" "00024160" "50" "21819" "0" "21819" "0" "c.*20673T>G" "r.(=)" "p.(=)" "" "0000692449" "00024160" "50" "554" "0" "554" "0" "c.554A>G" "r.(?)" "p.(Tyr185Cys)" "" "0000726636" "00024160" "50" "-92192" "0" "-92192" "0" "c.-92192T>C" "r.(?)" "p.(=)" "" "0000726637" "00024160" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Ter)" "" "0000808233" "00024160" "10" "441" "-45" "441" "-45" "c.441-45G>A" "r.(=)" "p.(=)" "" "0000813905" "00024160" "70" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "" "0000865470" "00024160" "10" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Ala29=)" "" "0000865471" "00024160" "50" "725" "0" "725" "0" "c.725A>C" "r.(?)" "p.(Lys242Thr)" "" "0000865472" "00024160" "30" "1029" "0" "1029" "0" "c.1029C>T" "r.(?)" "p.(Gly343=)" "" "0000865473" "00024160" "30" "8289" "0" "8289" "0" "c.*7143G>A" "r.(=)" "p.(=)" "" "0000914959" "00024160" "30" "26401" "0" "26401" "0" "c.*25255G>A" "r.(=)" "p.(=)" "" "0000932922" "00024160" "90" "0" "0" "0" "0" "c.-176_-7+265{0}" "r.0?" "p.0?" "_1_1i" "0000951023" "00024160" "50" "26319" "0" "26319" "0" "c.*25173G>C" "r.(=)" "p.(=)" "" "0000957729" "00024160" "70" "868" "0" "868" "0" "c.868dup" "r.(?)" "p.(Asp290GlyfsTer2)" "" "0000969196" "00024160" "50" "71" "0" "71" "0" "c.71A>G" "r.(?)" "p.(Lys24Arg)" "" "0000969197" "00024160" "30" "103" "0" "103" "0" "c.103A>G" "r.(?)" "p.(Ile35Val)" "" "0000969198" "00024160" "30" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(=)" "" "0000969199" "00024160" "30" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Arg74His)" "" "0000969200" "00024160" "30" "381" "0" "381" "0" "c.381T>C" "r.(?)" "p.(=)" "" "0000969201" "00024160" "30" "1029" "0" "1029" "0" "c.1029C>T" "r.(?)" "p.(Gly343=)" "" "0000969202" "00024160" "30" "21764" "0" "21764" "0" "c.*20618G>A" "r.(=)" "p.(=)" "" "0000969203" "00024160" "30" "21805" "0" "21805" "0" "c.*20659G>A" "r.(=)" "p.(=)" "" "0000982740" "00024160" "30" "770" "-9" "770" "-9" "c.770-9G>T" "r.(=)" "p.(=)" "" "0000982741" "00024160" "50" "964" "0" "964" "0" "c.964G>T" "r.(?)" "p.(Asp322Tyr)" "" "0000982742" "00024160" "30" "10024" "0" "10024" "0" "c.*8878G>T" "r.(=)" "p.(=)" "" "0000982743" "00024160" "30" "10081" "0" "10081" "0" "c.*8935G>A" "r.(=)" "p.(=)" "" "0000982744" "00024160" "50" "12779" "0" "12779" "0" "c.*11633C>T" "r.(=)" "p.(=)" "" "0001003618" "00024160" "30" "489" "0" "489" "0" "c.489T>C" "r.(?)" "p.(=)" "" "0001003619" "00024160" "50" "13508" "0" "13508" "0" "c.*12362T>C" "r.(=)" "p.(=)" "" "0001015607" "00024160" "50" "177" "7" "177" "7" "c.177+7A>G" "r.(=)" "p.(=)" "" "0001015608" "00024160" "30" "204" "0" "204" "0" "c.204G>A" "r.(?)" "p.(=)" "" "0001027048" "00024160" "30" "177" "30" "177" "30" "c.177+30T>G" "r.(=)" "p.(=)" "" "0001027049" "00024160" "30" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Arg74His)" "" "0001027050" "00024160" "70" "524" "0" "524" "0" "c.524A>G" "r.(?)" "p.(Tyr175Cys)" "" "0001042133" "00024160" "30" "348" "23" "348" "23" "c.348+23G>A" "r.(=)" "p.(=)" "" "0001042134" "00024160" "50" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Thr182Met)" "" "0001042135" "00024160" "50" "12680" "0" "12683" "0" "c.*11534_*11537del" "r.(=)" "p.(=)" "" "0001042136" "00024160" "30" "12709" "0" "12709" "0" "c.*11563C>T" "r.(=)" "p.(=)" "" "0001042137" "00024160" "30" "12871" "0" "12879" "0" "c.*11725_*11733del" "r.(=)" "p.(=)" "" "0001046667" "00024160" "50" "139" "0" "139" "0" "c.139A>G" "r.(?)" "p.(Met47Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 61 "{{screeningid}}" "{{variantid}}" "0000000011" "0000000040" "0000000012" "0000000042" "0000000014" "0000000015" "0000000014" "0000000037" "0000000015" "0000000016" "0000000016" "0000000017" "0000000016" "0000000044" "0000000017" "0000000018" "0000000018" "0000000019" "0000000021" "0000000022" "0000000027" "0000000028" "0000000028" "0000000029" "0000000031" "0000000032" "0000000033" "0000000034" "0000000034" "0000000035" "0000000035" "0000000036" "0000000036" "0000000038" "0000000037" "0000000039" "0000000038" "0000000043" "0000000039" "0000000045" "0000000040" "0000000047" "0000036650" "0000063775" "0000036651" "0000063776" "0000080067" "0000128944" "0000080068" "0000000015" "0000080069" "0000000016" "0000080231" "0000000017" "0000080242" "0000000018" "0000080243" "0000000019" "0000080244" "0000129198" "0000080246" "0000000022" "0000080248" "0000129202" "0000080258" "0000129212" "0000080259" "0000000028" "0000080260" "0000000029" "0000080261" "0000129215" "0000080262" "0000129216" "0000080267" "0000000032" "0000080269" "0000129224" "0000080270" "0000000034" "0000080272" "0000000035" "0000080273" "0000000036" "0000080784" "0000000037" "0000080785" "0000000038" "0000080786" "0000000039" "0000080787" "0000000040" "0000080789" "0000000042" "0000080790" "0000000043" "0000080791" "0000000044" "0000080792" "0000000045" "0000100746" "0000000047" "0000100785" "0000163159" "0000100786" "0000163160" "0000100787" "0000163161" "0000100788" "0000163162" "0000132909" "0000222091" "0000249552" "0000000029" "0000249606" "0000000018" "0000386406" "0000813905" "0000437609" "0000932922" "0000448322" "0000957729"