### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SAMHD1) # 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}}" "SAMHD1" "SAM domain and HD domain 1" "20" "pter-q12" "unknown" "NG_017059.1" "UD_132085225835" "" "https://www.LOVD.nl/SAMHD1" "" "1" "15925" "25939" "606754" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SAMHD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-02-18 00:00:00" "00006" "2017-08-05 10:57:55" "00000" "2025-05-15 17:14:02" ## 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}}" "00018398" "SAMHD1" "SAM domain and HD domain 1" "001" "NM_015474.3" "" "NP_056289.2" "" "" "" "-200" "2989" "1881" "35580246" "35520227" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "01037" "AGS5" "Aicardi-Goutieres syndrome, type 5 (AGS5)" "AR" "612952" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01038" "CHBL2" "Chilblain lupus, type 2 (CHBL2)" "AD" "614415" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-18 14:24:27" "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" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05129" "AGS" "Aicardi-Goutieres syndrome (AGS)" "" "" "" "" "" "00006" "2016-02-03 07:50:41" "" "" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05881" "CHBL" "Chilblain lupus (CHBL)" "" "" "" "" "" "00006" "2020-11-18 14:26:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SAMHD1" "01037" "SAMHD1" "01038" "SAMHD1" "05881" ## Individuals ## Do not remove or alter this header ## ## Count = 48 "{{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}}" "00000012" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000040" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00080696" "" "" "" "1" "" "01200" "{PMID:Linglart et al.2012:23043190}" "" "F" "?" "" "" "0" "" "" "" "" "00080973" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00100342" "" "" "" "1" "" "01744" "NOT PUBLISHED" "" "F" "no" "Morocco" "" "0" "" "" "" "" "00112759" "" "" "" "1" "" "01537" "{PMID:Ramesh 2010:20653736}" "" "" "" "" "" "0" "" "" "" "" "00112760" "" "" "" "1" "" "01537" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "France" "" "0" "" "" "France;Jewish" "" "00112761" "" "" "" "1" "" "01537" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "France" "" "0" "" "" "France;Jewish" "" "00112762" "" "" "" "1" "" "01537" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "" "" "0" "" "" "Jewish" "" "00112763" "" "" "" "1" "" "01537" "{PMID:Leshinsky-Silver 2011:21102625}" "" "" "" "" "" "0" "" "" "Jewish" "" "00112764" "" "" "" "1" "" "01537" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Israel" "" "0" "" "" "Israeli" "" "00112765" "" "" "" "1" "" "01537" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "" "" "0" "" "" "" "" "00112766" "" "" "" "1" "" "01537" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "" "" "0" "" "" "" "" "00112767" "" "" "" "1" "" "01537" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "" "" "0" "" "" "" "" "00112768" "" "" "" "1" "" "01537" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "" "" "0" "" "" "Jewish" "" "00112769" "" "" "" "1" "" "01537" "{PMID:Abdel-Salam 2010:20571986}" "" "" "" "" "" "0" "" "" "" "" "00112770" "" "" "" "1" "" "01537" "{PMID:Rice 2009:19525956}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112771" "" "" "" "1" "" "01537" "{PMID:Rice 2009:19525956}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112772" "" "" "" "1" "" "02172" "" "" "M" "" "" "" "0" "" "" "" "" "00112773" "" "" "" "1" "" "01537" "{PMID:Rice 2009:19525956}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112774" "" "" "" "1" "" "01537" "{PMID:Rice 2009:19525956}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112775" "" "" "" "2" "" "01537" "{PMID:Rice 2009:19525956}" "2 times identified" "" "" "" "" "0" "" "" "" "" "00112776" "" "" "" "1" "" "01537" "{PMID:Rice 2009:19525956}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112777" "" "" "" "1" "" "01537" "{PMID:Rice 2009:19525956}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112778" "" "" "" "4" "" "01537" "{PMID:Thiele 2010:20842748}" "4 times identified" "" "" "" "" "0" "" "" "" "" "00112779" "" "" "" "1" "" "01537" "{PMID:Ramantani 2010:20131292}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112780" "" "" "" "1" "" "01537" "{PMID:Rice 2009:19525956}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112781" "" "" "" "1" "" "01537" "{PMID:Ramesh 2010:20653736}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112782" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112783" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112784" "" "" "" "1" "" "01537" "{PMID:Rice 2009:19525956}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112785" "" "" "" "1" "" "01537" "{PMID:Ramesh 2010:20653736}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112786" "" "" "" "1" "" "01537" "{PMID:Rice 2009:19525956}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112787" "" "" "" "1" "" "01537" "{PMID:Ramantani 2010:20131292}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112789" "" "" "" "1" "" "01537" "{PMID:Rice 2009:19525956}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112790" "" "" "" "1" "" "01537" "{PMID:Ramesh 2010:20653736}" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00112792" "" "" "" "17" "" "01537" "{PMID:Xin 2011:21402907}" "17 times identified" "" "" "" "" "0" "" "" "" "" "00112793" "" "" "" "1" "" "01537" "{PMID:Xin 2011:21402907}" "" "" "" "United States" "" "0" "" "" "Amish" "" "00112794" "" "" "" "1" "" "01537" "{PMID:Xin 2011:21402907}" "" "" "" "United States" "" "0" "" "" "Amish" "" "00112795" "" "" "" "1" "" "01537" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "United States" "" "0" "" "" "Amish" "" "00112796" "" "" "" "1" "" "01537" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Australia" "" "0" "" "" "" "" "00112797" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112798" "" "" "" "1" "" "01537" "{PMID:Rice 2009:19525956}" "1 carrier" "" "" "" "" "0" "" "" "" "" "00112799" "" "" "" "1" "" "01536" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "" "" "0" "" "" "" "" "00112800" "" "" "" "1" "" "01537" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Spain" "" "0" "" "" "Spanish" "" "00410580" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "F" "" "Belgium" "" "0" "" "" "" "Pat42" "00419999" "" "" "" "1" "" "00006" "{PMID:Lessel 2014:24989684}" "" "M" "yes" "Turkey" "" "0" "" "" "" "patient" "00431873" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "00y03m" "" "" "" "Europe" "SIDS044" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 48 "{{individualid}}" "{{diseaseid}}" "00000012" "00138" "00000012" "05378" "00080696" "01160" "00080973" "01037" "00100342" "01160" "00112759" "01037" "00112760" "01037" "00112761" "01037" "00112762" "01037" "00112763" "01037" "00112764" "01037" "00112765" "01037" "00112766" "01037" "00112767" "01037" "00112768" "01037" "00112769" "01037" "00112770" "01037" "00112771" "01037" "00112772" "01037" "00112773" "01037" "00112774" "01037" "00112775" "01037" "00112776" "01037" "00112777" "01037" "00112778" "01037" "00112779" "01037" "00112780" "01037" "00112781" "01037" "00112782" "01037" "00112783" "01037" "00112784" "01037" "00112785" "01037" "00112786" "01037" "00112787" "01037" "00112789" "01037" "00112790" "01037" "00112792" "01037" "00112793" "01037" "00112794" "01037" "00112795" "01037" "00112796" "01037" "00112797" "01037" "00112798" "01037" "00112799" "01037" "00112800" "01037" "00410580" "00198" "00419999" "05129" "00431873" "02087" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 01037, 01038, 01160, 02087, 05129, 05378, 05881 ## Count = 45 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Growth}}" "{{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}}" "0000060268" "01160" "00080696" "01200" "Unknown" "" "PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, FSH resistance" "" "" "4,5y" "" "" "" "" "" "" "" "" "" "0000060542" "01037" "00080973" "01758" "Familial, autosomal recessive" "" "Aicardi-Goutieres syndrome 5 (OMIM:612952)" "" "" "" "" "" "" "" "" "" "" "" "" "0000088241" "01037" "00112759" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088242" "01037" "00112760" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088243" "01037" "00112761" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088244" "01037" "00112762" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088245" "01037" "00112763" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088246" "01037" "00112764" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088247" "01037" "00112765" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088248" "01037" "00112766" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088249" "01037" "00112767" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088250" "01037" "00112768" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088251" "01037" "00112769" "01537" "Unknown" "" "with Chilblain leasions" "" "" "" "" "" "" "" "" "" "" "" "" "0000088252" "01037" "00112770" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088253" "01037" "00112771" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088254" "01037" "00112772" "02172" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088255" "01037" "00112773" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088256" "01037" "00112774" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088257" "01037" "00112775" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088258" "01037" "00112776" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088259" "01037" "00112777" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088260" "01037" "00112778" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088261" "01037" "00112779" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088262" "01037" "00112780" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088263" "01037" "00112781" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088264" "01037" "00112782" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088265" "01037" "00112783" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088266" "01037" "00112784" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088267" "01037" "00112785" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088268" "01037" "00112786" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088269" "01037" "00112787" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088271" "01037" "00112789" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088272" "01037" "00112790" "01537" "Unknown" "" "Inflammatory phenotype" "" "" "" "" "" "" "" "" "" "" "" "" "0000088274" "01037" "00112792" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088275" "01037" "00112793" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088276" "01037" "00112794" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088277" "01037" "00112795" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088278" "01037" "00112796" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088279" "01037" "00112797" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088280" "01037" "00112798" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088281" "01037" "00112799" "01536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088282" "01037" "00112800" "01537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000302683" "00198" "00410580" "00006" "Unknown" "" "see paper; ..., onset adulthood, cerebral white matter lesions, pain, chilblains, dermatitis" "" "" "" "" "" "" "" "" "" "Chilblain lupus 2 (614415)" "" "" "0000311245" "05129" "00419999" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., aged appearance, prematurely gray hair, scleroderma-like skin, spastic paraplegia, apparent disability" "" "" "" "" "" "" "" "" "" "AGS5" "Aicardi-Goutieres syndrome" "" "0000322441" "02087" "00431873" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 48 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000012" "00000012" "1" "00004" "" "2012-05-11 13:18:38" "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" "" "" "0000080789" "00080696" "1" "01200" "01200" "2016-09-05 10:29:21" "" "" "SEQ" "DNA" "blood" "" "0000081085" "00080973" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100746" "00100342" "1" "01744" "01744" "2017-02-13 11:43:10" "" "" "SEQ" "DNA" "peripheral blood" "" "0000113217" "00112759" "1" "01537" "01537" "2012-12-04 14:16:12" "" "" "PCR" "DNA" "" "" "0000113218" "00112760" "1" "01537" "01537" "2012-12-04 14:22:16" "" "" "PCR" "DNA" "" "" "0000113219" "00112761" "1" "01537" "01537" "2012-12-04 14:47:40" "" "" "PCR" "DNA" "" "" "0000113220" "00112762" "1" "01537" "01537" "2012-12-04 15:05:02" "" "" "PCR" "DNA" "" "" "0000113221" "00112763" "1" "01537" "01537" "2012-12-04 15:09:50" "" "" "PCR" "DNA" "" "" "0000113222" "00112764" "1" "01537" "01537" "2012-12-04 15:13:50" "" "" "PCR" "DNA" "" "" "0000113223" "00112765" "1" "01537" "01537" "2012-12-04 15:18:13" "" "" "PCR" "DNA" "" "" "0000113224" "00112766" "1" "01537" "01537" "2012-12-04 15:21:18" "" "" "PCR" "DNA" "" "" "0000113225" "00112767" "1" "01537" "01537" "2012-12-10 14:54:51" "" "" "PCR" "DNA" "" "" "0000113226" "00112768" "1" "01537" "01537" "2012-12-10 15:15:23" "" "" "PCR" "DNA" "" "" "0000113227" "00112769" "1" "01537" "01537" "2012-12-10 11:50:32" "" "" "PCR" "DNA" "" "" "0000113228" "00112770" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113229" "00112771" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113230" "00112772" "1" "02172" "02172" "2013-11-27 16:53:34" "" "" "SEQ" "DNA" "" "" "0000113231" "00112773" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113232" "00112774" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113233" "00112775" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113234" "00112776" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113235" "00112777" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113236" "00112778" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113237" "00112779" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113238" "00112780" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113239" "00112781" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113240" "00112782" "1" "01536" "01536" "2012-03-10 18:09:54" "01536" "2012-03-28 19:22:08" "SEQ" "DNA" "" "" "0000113241" "00112783" "1" "01536" "01536" "2012-03-10 18:17:28" "" "" "SEQ" "DNA" "" "" "0000113242" "00112784" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113243" "00112785" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113244" "00112786" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113245" "00112787" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113247" "00112789" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113248" "00112790" "1" "01537" "01537" "2012-12-10 14:44:26" "" "" "PCR" "DNA" "" "" "0000113250" "00112792" "1" "01537" "01537" "2011-07-25 17:00:46" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113251" "00112793" "1" "01537" "01537" "2012-12-10 11:21:59" "" "" "SEQ" "DNA" "" "" "0000113252" "00112794" "1" "01537" "01537" "2012-12-10 11:25:42" "" "" "SEQ" "DNA" "" "" "0000113253" "00112795" "1" "01537" "01537" "2012-12-10 11:28:27" "" "" "SEQ" "DNA" "" "" "0000113254" "00112796" "1" "01537" "01537" "2012-12-10 15:26:36" "" "" "SEQ" "DNA" "" "" "0000113255" "00112797" "1" "01536" "01536" "2012-03-10 18:24:37" "01536" "2012-03-28 19:24:43" "SEQ" "DNA" "" "" "0000113256" "00112798" "1" "01537" "01537" "2011-03-22 14:30:17" "01537" "2012-12-11 15:35:51" "SEQ" "DNA" "" "" "0000113257" "00112799" "1" "01536" "01536" "2012-03-10 18:38:01" "" "" "SEQ" "DNA" "" "" "0000113258" "00112800" "1" "01537" "01537" "2012-12-10 14:08:34" "" "" "SEQ" "DNA" "" "" "0000411845" "00410580" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421305" "00419999" "1" "00006" "00006" "2022-10-30 10:11:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000433313" "00431873" "1" "01602" "01602" "2023-02-17 14:40:44" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 63 "{{screeningid}}" "{{geneid}}" "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" "0000000040" "ATP7A" "0000000040" "DPYD" "0000000040" "GLB1" "0000000040" "LAMA2" "0000081085" "SAMHD1" "0000100746" "PRKAR1A" "0000113217" "SAMHD1" "0000113218" "SAMHD1" "0000113219" "SAMHD1" "0000113220" "SAMHD1" "0000113221" "SAMHD1" "0000113222" "SAMHD1" "0000113223" "SAMHD1" "0000113224" "SAMHD1" "0000113225" "SAMHD1" "0000113226" "SAMHD1" "0000113227" "SAMHD1" "0000113228" "SAMHD1" "0000113229" "SAMHD1" "0000113230" "SAMHD1" "0000113231" "SAMHD1" "0000113232" "SAMHD1" "0000113233" "SAMHD1" "0000113234" "SAMHD1" "0000113235" "SAMHD1" "0000113236" "SAMHD1" "0000113237" "SAMHD1" "0000113238" "SAMHD1" "0000113239" "SAMHD1" "0000113240" "SAMHD1" "0000113241" "SAMHD1" "0000113242" "SAMHD1" "0000113243" "SAMHD1" "0000113244" "SAMHD1" "0000113245" "SAMHD1" "0000113247" "SAMHD1" "0000113248" "SAMHD1" "0000113250" "SAMHD1" "0000113251" "SAMHD1" "0000113252" "SAMHD1" "0000113253" "SAMHD1" "0000113254" "SAMHD1" "0000113255" "SAMHD1" "0000113256" "SAMHD1" "0000113257" "SAMHD1" "0000113258" "SAMHD1" "0000421305" "WRN" ## 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 = 100 "{{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}}" "0000000042" "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" "" "0000130171" "3" "70" "20" "35559162" "35559162" "subst" "0" "01758" "SAMHD1_000014" "g.35559162C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.36930759C>T" "" "likely pathogenic" "ACMG" "0000182058" "3" "77" "20" "35577148" "35586131" "" "0" "00006" "SAMHD1_000005" "g.35577148_35586131del" "" "{PMID:Ramesh 2010:20653736}" "" "" "9kb Deletion" "Germline" "" "" "0" "" "" "g.36948745_36957728del" "" "likely pathogenic" "" "0000182059" "1" "77" "20" "35577148" "35586131" "" "0" "00006" "SAMHD1_000005" "g.35577148_35586131del" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "(8984Kbdel)" "Germline" "" "" "0" "" "" "g.36948745_36957728del" "" "likely pathogenic" "" "0000182060" "3" "77" "20" "35577148" "35586131" "" "0" "00006" "SAMHD1_000005" "g.35577148_35586131del" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "(8984Kbdel)" "Germline" "" "" "0" "" "" "g.36948745_36957728del" "" "likely pathogenic" "" "0000182061" "0" "77" "20" "35577148" "35586131" "" "0" "00006" "SAMHD1_000005" "g.35577148_35586131del" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "(8984Kbdel)" "Germline" "" "" "0" "" "" "g.36948745_36957728del" "" "likely pathogenic" "" "0000182062" "0" "77" "20" "35577148" "35586131" "" "0" "00006" "SAMHD1_000005" "g.35577148_35586131del" "" "{PMID:Ramesh 2010:20653736}" "" "" "9kb Deletion" "Germline" "" "" "0" "" "" "g.36948745_36957728del" "" "likely pathogenic" "" "0000182063" "1" "77" "20" "35577148" "35586131" "" "0" "00006" "SAMHD1_000005" "g.35577148_35586131del" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "(8984Kbdel)" "Germline" "" "" "0" "" "" "g.36948745_36957728del" "" "likely pathogenic" "" "0000182064" "3" "77" "20" "35577148" "35586131" "" "0" "00006" "SAMHD1_000005" "g.35577148_35586131del" "" "{PMID:Ramesh 2010:20653736}" "" "" "(8984Kbdel)" "Germline" "" "" "0" "" "" "g.36948745_36957728del" "" "likely pathogenic" "" "0000182065" "3" "77" "20" "35577148" "35586131" "" "0" "00006" "SAMHD1_000005" "g.35577148_35586131del" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "(8984Kbdel)" "Germline" "" "" "0" "" "" "g.36948745_36957728del" "" "likely pathogenic" "" "0000182066" "1" "77" "20" "35577148" "35586131" "" "0" "00006" "SAMHD1_000005" "g.35577148_35586131del" "" "{PMID:Ramesh 2010:20653736}" "" "" "9kb Deletion" "Germline" "" "" "0" "" "" "g.36948745_36957728del" "" "likely pathogenic" "" "0000182067" "3" "77" "20" "35577148" "35586131" "" "0" "00006" "SAMHD1_000005" "g.35577148_35586131del" "" "{PMID:Leshinsky-Silver 2011:21102625}" "" "" "(8984Kbdel)" "Germline" "" "" "0" "" "" "g.36948745_36957728del" "" "likely pathogenic" "" "0000182068" "3" "77" "20" "35526224" "35526224" "subst" "0" "00006" "SAMHD1_000010" "g.35526224C>A" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.36897821C>A" "" "likely pathogenic" "" "0000182069" "11" "30" "20" "35526314" "35526314" "subst" "0" "01536" "SAMHD1_000004" "g.35526314A>G" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "heterozygous variant" "Germline" "" "" "0" "" "" "g.36897911A>G" "" "likely benign" "" "0000182070" "3" "90" "20" "35526329" "35526329" "subst" "4.06151E-6" "00006" "SAMHD1_000032" "g.35526329G>A" "" "{PMID:Rice 2009:19525956}" "" "" "homozygous mutation" "Germline" "" "" "0" "" "" "g.36897926G>A" "" "pathogenic" "" "0000182071" "3" "90" "20" "35526363" "35526363" "subst" "4.06227E-6" "01536" "SAMHD1_000003" "g.35526363C>G" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "heterozygous RNASEH2B variant c.925dupA also present" "Germline" "" "" "0" "" "" "g.36897960C>G" "" "pathogenic" "" "0000182072" "3" "77" "20" "35532559" "35532559" "subst" "0" "00006" "SAMHD1_000012" "g.35532559C>A" "" "{PMID:Ramesh 2010:20653736}" "" "" "" "Germline" "" "" "0" "" "" "g.36904156C>A" "" "likely pathogenic" "" "0000182073" "0" "77" "20" "35532589" "35532589" "del" "0" "00006" "SAMHD1_000007" "g.35532589del" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.36904186del" "" "likely pathogenic" "" "0000182074" "0" "77" "20" "35532589" "35532589" "del" "0" "00006" "SAMHD1_000007" "g.35532589del" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.36904186del" "" "likely pathogenic" "" "0000182075" "0" "77" "20" "35532654" "35532654" "subst" "4.06121E-6" "00006" "SAMHD1_000008" "g.35532654T>C" "" "{PMID:Xin 2011:21402907}" "" "" "" "Germline" "" "" "0" "" "" "g.36904251T>C" "" "likely pathogenic" "" "0000182076" "3" "77" "20" "35532654" "35532654" "subst" "4.06121E-6" "00006" "SAMHD1_000008" "g.35532654T>C" "" "{PMID:Xin 2011:21402907}" "" "" "" "Germline" "" "" "0" "" "" "g.36904251T>C" "" "likely pathogenic" "" "0000182077" "3" "77" "20" "35532654" "35532654" "subst" "4.06121E-6" "00006" "SAMHD1_000008" "g.35532654T>C" "" "{PMID:Xin 2011:21402907}" "" "" "" "Germline" "" "" "0" "" "" "g.36904251T>C" "" "likely pathogenic" "" "0000182078" "3" "77" "20" "35532654" "35532654" "subst" "4.06121E-6" "00006" "SAMHD1_000008" "g.35532654T>C" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.36904251T>C" "" "likely pathogenic" "" "0000182080" "3" "77" "20" "35521335" "35533906" "del" "0" "00006" "SAMHD1_000011" "g.35521335_35533906del" "" "{PMID:Ramesh 2010:20653736}" "" "" "" "Germline" "" "" "0" "" "" "g.36892932_36905503del" "" "likely pathogenic" "" "0000182081" "0" "90" "20" "35540865" "35540865" "subst" "0" "00006" "SAMHD1_000029" "g.35540865T>C" "" "{PMID:Rice 2009:19525956}" "" "" "" "Germline" "" "" "0" "" "" "g.36912462T>C" "" "pathogenic" "" "0000182083" "2" "90" "20" "35540920" "35540920" "dup" "0" "01536" "SAMHD1_000002" "g.35540920dup" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "heterozygous mutations" "Germline" "" "" "0" "" "" "g.36912517dup" "" "pathogenic" "" "0000182084" "0" "90" "20" "35545436" "35545436" "subst" "4.06431E-6" "00006" "SAMHD1_000036" "g.35545436C>T" "" "{PMID:Ramantani 2010:20131292}" "" "" "compound heterozygous with c.1642C>T" "Germline" "" "" "0" "" "" "g.36917033C>T" "" "pathogenic" "" "0000182085" "0" "90" "20" "35547859" "35547859" "subst" "0" "00006" "SAMHD1_000024" "g.35547859T>C" "" "{PMID:Rice 2009:19525956}" "" "" "heterozygous mutations" "Germline" "" "" "0" "" "" "g.36919456T>C" "" "pathogenic" "" "0000182086" "3" "77" "20" "35555633" "35555633" "dup" "0" "00006" "SAMHD1_000006" "g.35555633dup" "" "{PMID:Ramesh 2010:20653736}" "" "c.649insG" "homozygous mutation, originally reported as p.Phe217CysX (c.649insG )" "Germline" "" "" "0" "" "" "g.36927230dup" "" "likely pathogenic" "" "0000182087" "2" "77" "20" "35555633" "35555633" "dup" "0" "00006" "SAMHD1_000006" "g.35555633dup" "" "{PMID:Ramesh 2010:20653736}" "" "" "" "Germline" "" "" "0" "" "" "g.36927230dup" "" "likely pathogenic" "" "0000182088" "2" "77" "20" "35555633" "35555633" "dup" "0" "00006" "SAMHD1_000006" "g.35555633dup" "" "Prof. YJ Crow, Univ Manchester, unpublished" "" "c.649insG" "" "Germline" "" "" "0" "" "" "g.36927230dup" "" "likely pathogenic" "" "0000182089" "3" "90" "20" "35559163" "35559163" "subst" "4.06428E-6" "00006" "SAMHD1_000021" "g.35559163C>T" "" "{PMID:Rice 2009:19525956}" "" "" "homozygous mutation" "Germline" "" "" "0" "" "" "g.36930760C>T" "" "pathogenic" "" "0000182090" "0" "90" "20" "35559186" "35559186" "subst" "2.43786E-5" "00006" "SAMHD1_000028" "g.35559186A>T" "" "{PMID:Rice 2009:19525956}" "" "" "heterozygous mutations" "Germline" "" "" "0" "" "" "g.36930783A>T" "" "pathogenic" "" "0000182091" "3" "90" "20" "35559186" "35559186" "subst" "2.43786E-5" "00006" "SAMHD1_000028" "g.35559186A>T" "" "{PMID:Ramesh 2010:20653736}" "" "" "homozygous mutation" "Germline" "" "" "0" "" "" "g.36930783A>T" "" "pathogenic" "" "0000182092" "11" "90" "20" "35559186" "35559186" "subst" "2.43786E-5" "01536" "SAMHD1_000028" "g.35559186A>T" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "heterozygous RNASEH2B variant c.925dupA also present" "Germline" "" "" "0" "" "" "g.36930783A>T" "" "pathogenic" "" "0000182093" "1" "90" "20" "35559186" "35559186" "subst" "2.43786E-5" "01536" "SAMHD1_000028" "g.35559186A>T" "" "Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.36930783A>T" "" "pathogenic" "" "0000182094" "3" "90" "20" "35563442" "35563442" "subst" "0" "00006" "SAMHD1_000035" "g.35563442G>A" "" "{PMID:Ramantani 2010:20131292}" "" "" "homozygous mutation" "Germline" "" "" "0" "" "" "g.36935039G>A" "" "pathogenic" "" "0000182095" "3" "90" "20" "35563451" "35563451" "subst" "4.06118E-6" "00006" "SAMHD1_000039" "g.35563451G>A" "" "{PMID:Thiele 2010:20842748}" "" "" "homozygous mutation" "Germline" "" "" "0" "" "" "g.36935048G>A" "" "pathogenic" "" "0000182096" "3" "99" "20" "35563496" "35563496" "subst" "0" "00006" "SAMHD1_000031" "g.35563496G>A" "" "{PMID:Rice 2009:19525956}" "" "" "homozygous mutation" "Germline" "" "" "0" "" "" "g.36935093G>A" "" "pathogenic" "" "0000182097" "0" "90" "20" "35563507" "35563507" "subst" "4.06108E-6" "00006" "SAMHD1_000025" "g.35563507C>T" "" "{PMID:Rice 2009:19525956}" "" "" "heterozygous mutations" "Germline" "" "" "0" "" "" "g.36935104C>T" "" "pathogenic" "" "0000182098" "3" "90" "20" "35563508" "35563508" "subst" "8.12196E-6" "00006" "SAMHD1_000022" "g.35563508G>A" "" "{PMID:Rice 2009:19525956}" "" "" "homozygous mutation" "Germline" "" "" "0" "" "" "g.36935105G>A" "" "pathogenic" "" "0000182099" "3" "90" "20" "35563513" "35563513" "subst" "1.21829E-5" "00006" "SAMHD1_000030" "g.35563513C>T" "" "{PMID:Rice 2009:19525956}" "" "" "homozygous mutation" "Germline" "" "" "0" "" "" "g.36935110C>T" "" "pathogenic" "" "0000182100" "0" "90" "20" "35563514" "35563514" "subst" "4.06095E-6" "00006" "SAMHD1_000027" "g.35563514G>A" "" "{PMID:Rice 2009:19525956}" "" "" "heterozygous mutations" "Germline" "" "" "0" "" "" "g.36935111G>A" "" "pathogenic" "" "0000182101" "3" "50" "20" "35563541" "35563541" "subst" "0" "02172" "SAMHD1_000013" "g.35563541G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.36935138G>A" "" "VUS" "" "0000182102" "0" "90" "20" "35563573" "35563573" "subst" "0" "00006" "SAMHD1_000023" "g.35563573T>G" "" "{PMID:Rice 2009:19525956}" "" "" "heterozygous mutations" "Germline" "" "" "0" "" "" "g.36935170T>G" "" "pathogenic" "" "0000182103" "3" "90" "20" "35563574" "35563585" "del" "0" "00006" "SAMHD1_000034" "g.35563574_35563585del" "" "{PMID:Rice 2009:19525956}" "" "" "homozygous mutation" "Germline" "" "" "0" "" "" "g.36935171_36935182del" "" "pathogenic" "" "0000182104" "3" "97" "20" "35532559" "35580047" "" "0" "00006" "SAMHD1_000009" "g.(35526948_35532559)_(35580047_?)del" "" "{PMID:Abdel-Salam 2010:20571986}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000251642" "0" "10" "20" "35559468" "35559468" "subst" "0" "02326" "SAMHD1_000048" "g.35559468A>G" "" "" "" "SAMHD1(NM_015474.3):c.510-190T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36931065A>G" "" "benign" "" "0000255330" "0" "30" "20" "35540849" "35540849" "subst" "0" "01943" "SAMHD1_000044" "g.35540849A>C" "" "" "" "SAMHD1(NM_015474.3):c.1154+15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36912446A>C" "" "likely benign" "" "0000297899" "0" "30" "20" "35563479" "35563479" "subst" "0.00010965" "02325" "SAMHD1_000049" "g.35563479G>A" "" "" "" "SAMHD1(NM_015474.4):c.462C>T (p.Y154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36935076G>A" "" "likely benign" "" "0000299330" "0" "50" "20" "35555605" "35555605" "subst" "1.21834E-5" "02329" "SAMHD1_000046" "g.35555605G>A" "" "" "" "SAMHD1(NM_015474.4):c.676C>T (p.R226C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36927202G>A" "" "VUS" "" "0000301643" "0" "30" "20" "35540729" "35540729" "subst" "0" "02326" "SAMHD1_000043" "g.35540729T>A" "" "" "" "SAMHD1(NM_015474.3):c.1154+135A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36912326T>A" "" "likely benign" "" "0000301644" "0" "50" "20" "35521460" "35521460" "subst" "0" "02326" "SAMHD1_000040" "g.35521460C>A" "" "" "" "SAMHD1(NM_015474.3):c.1756G>T (p.V586F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36893057C>A" "" "VUS" "" "0000301645" "0" "10" "20" "35559120" "35559120" "subst" "0" "02326" "SAMHD1_000047" "g.35559120G>T" "" "" "" "SAMHD1(NM_015474.3):c.625+43C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36930717G>T" "" "benign" "" "0000301646" "0" "30" "20" "35547933" "35547933" "subst" "7.33753E-5" "02326" "SAMHD1_000045" "g.35547933T>C" "" "" "" "SAMHD1(NM_015474.3):c.697-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36919530T>C" "" "likely benign" "" "0000301647" "0" "30" "20" "35579970" "35579970" "subst" "0.00056488" "02326" "SAMHD1_000051" "g.35579970G>A" "" "" "" "SAMHD1(NM_015474.3):c.77C>T (p.P26L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36951567G>A" "" "likely benign" "" "0000307705" "0" "30" "20" "35579933" "35579933" "subst" "2.03371E-5" "01943" "SAMHD1_000050" "g.35579933G>C" "" "" "" "SAMHD1(NM_015474.3):c.114C>G (p.L38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36951530G>C" "" "likely benign" "" "0000307706" "0" "50" "20" "35526858" "35526858" "subst" "0.000519856" "01943" "SAMHD1_000042" "g.35526858C>G" "" "" "" "SAMHD1(NM_015474.3):c.1593G>C (p.R531S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36898455C>G" "" "VUS" "" "0000307707" "0" "30" "20" "35526228" "35526228" "subst" "0.000105592" "01943" "SAMHD1_000041" "g.35526228C>T" "" "" "" "SAMHD1(NM_015474.3):c.1743G>A (p.P581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36897825C>T" "" "likely benign" "" "0000307708" "0" "50" "20" "35563513" "35563513" "subst" "1.21829E-5" "01943" "SAMHD1_000030" "g.35563513C>T" "" "" "" "SAMHD1(NM_015474.3):c.428G>A (p.R143H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36935110C>T" "" "VUS" "" "0000343091" "0" "90" "20" "35526320" "35526320" "subst" "0" "02327" "SAMHD1_000052" "g.35526320G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36897917G>A" "" "pathogenic" "" "0000569522" "0" "30" "20" "35532618" "35532618" "subst" "2.43665E-5" "01943" "C20orf118_000002" "g.35532618C>T" "" "" "" "SAMHD1(NM_015474.3):c.1445G>A (p.S482N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36904215C>T" "" "likely benign" "" "0000569523" "0" "30" "20" "35555600" "35555600" "subst" "1.21833E-5" "01943" "C20orf118_000003" "g.35555600C>T" "" "" "" "SAMHD1(NM_015474.3):c.681G>A (p.P227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36927197C>T" "" "likely benign" "" "0000569524" "0" "30" "20" "35555660" "35555660" "subst" "1.62534E-5" "01943" "C20orf118_000004" "g.35555660A>G" "" "" "" "SAMHD1(NM_015474.3):c.626-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36927257A>G" "" "likely benign" "" "0000569525" "0" "50" "20" "35563433" "35563433" "subst" "0" "02325" "C20orf118_000005" "g.35563433C>T" "" "" "" "SAMHD1(NM_015474.4):c.508G>A (p.G170R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36935030C>T" "" "VUS" "" "0000569526" "0" "30" "20" "35569424" "35569424" "subst" "0.000418904" "02326" "C20orf118_000006" "g.35569424A>C" "" "" "" "SAMHD1(NM_015474.3):c.348+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36941021A>C" "" "likely benign" "" "0000569527" "0" "30" "20" "35575179" "35575179" "subst" "0.0004117" "02326" "C20orf118_000007" "g.35575179A>G" "" "" "" "SAMHD1(NM_001363729.1):c.237T>C (p.P79=), SAMHD1(NM_015474.3):c.237T>C (p.P79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36946776A>G" "" "likely benign" "" "0000624152" "0" "30" "20" "35569456" "35569456" "subst" "0.000316929" "01943" "C20orf118_000008" "g.35569456C>T" "" "" "" "SAMHD1(NM_001363729.1):c.334G>A (p.V112I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36941053C>T" "" "likely benign" "" "0000658750" "0" "50" "20" "35545372" "35545372" "subst" "0" "02325" "C20orf118_000009" "g.35545372G>T" "" "" "" "SAMHD1(NM_015474.4):c.933C>A (p.D311E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36916969G>T" "" "VUS" "" "0000658751" "0" "90" "20" "35555656" "35555656" "subst" "0" "02327" "C20orf118_000010" "g.35555656C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36927253C>T" "" "pathogenic" "" "0000681604" "0" "30" "20" "35532593" "35532593" "subst" "0" "01943" "C20orf118_000011" "g.35532593G>A" "" "" "" "SAMHD1(NM_015474.3):c.1470C>T (p.D490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681605" "0" "30" "20" "35555660" "35555660" "subst" "1.62534E-5" "02326" "C20orf118_000004" "g.35555660A>G" "" "" "" "SAMHD1(NM_015474.3):c.626-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692972" "0" "30" "20" "35533857" "35533857" "subst" "6.49973E-5" "01943" "C20orf118_000012" "g.35533857G>A" "" "" "" "SAMHD1(NM_001363729.1):c.1320C>T (p.D440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692973" "0" "30" "20" "35575133" "35575133" "subst" "0.000181388" "01943" "C20orf118_000013" "g.35575133A>T" "" "" "" "SAMHD1(NM_001363729.1):c.275+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692974" "0" "30" "20" "35575179" "35575179" "subst" "0.0004117" "01943" "C20orf118_000007" "g.35575179A>G" "" "" "" "SAMHD1(NM_001363729.1):c.237T>C (p.P79=), SAMHD1(NM_015474.3):c.237T>C (p.P79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692975" "0" "30" "20" "35579945" "35579945" "subst" "0" "01943" "C20orf118_000014" "g.35579945C>T" "" "" "" "SAMHD1(NM_015474.3):c.102G>A (p.P34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727672" "0" "90" "20" "35563451" "35563451" "subst" "4.06118E-6" "01943" "SAMHD1_000039" "g.35563451G>A" "" "" "" "SAMHD1(NM_001363729.1):c.490C>T (p.R164*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809234" "0" "30" "20" "35533837" "35533837" "subst" "0" "01943" "C20orf118_000015" "g.35533837T>G" "" "" "" "SAMHD1(NM_015474.3):c.1340A>C (p.Q447P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809235" "0" "90" "20" "35555634" "35555635" "del" "4.06134E-6" "02325" "C20orf118_000016" "g.35555634_35555635del" "" "" "" "SAMHD1(NM_015474.3):c.646_647delAT (p.M216Vfs*2), SAMHD1(NM_015474.4):c.646_647delAT (p.M216Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809236" "0" "50" "20" "35563507" "35563507" "subst" "0" "01943" "C20orf118_000017" "g.35563507C>G" "" "" "" "SAMHD1(NM_001363729.1):c.434G>C (p.R145P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855825" "0" "50" "20" "35521470" "35521470" "subst" "0" "02325" "C20orf118_000018" "g.35521470C>A" "" "" "" "SAMHD1(NM_015474.4):c.1747-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855826" "0" "70" "20" "35526320" "35526320" "subst" "0" "02329" "C20orf118_000019" "g.35526320G>C" "" "" "" "SAMHD1(NM_001363729.2):c.1546C>G (p.R516G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855827" "0" "30" "20" "35532581" "35532581" "subst" "0" "01943" "C20orf118_000021" "g.35532581C>T" "" "" "" "SAMHD1(NM_015474.3):c.1482G>A (p.K494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866446" "0" "90" "20" "35526353" "35526353" "del" "4.06124E-6" "01943" "C20orf118_000020" "g.35526353del" "" "" "" "SAMHD1(NM_001363729.1):c.1513delC (p.L505Ffs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000869082" "0" "70" "20" "35545404" "35545404" "subst" "4.06276E-6" "00006" "SAMHD1_000054" "g.35545404C>G" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PM1, PM2, PP2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.36917001C>G" "" "likely pathogenic (recessive)" "" "0000882026" "3" "90" "20" "35555656" "35555656" "subst" "0" "00006" "SAMHD1_000055" "g.35555656C>G" "" "{PMID:Lessel 2014:24989684}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000895290" "0" "50" "20" "35540922" "35540922" "subst" "0" "02325" "C20orf118_000022" "g.35540922G>A" "" "" "" "SAMHD1(NM_015474.4):c.1096C>T (p.R366C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895291" "0" "50" "20" "35545168" "35545168" "subst" "4.0623E-6" "02326" "C20orf118_000023" "g.35545168A>T" "" "" "" "SAMHD1(NM_015474.3):c.1019T>A (p.V340D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918959" "0" "90" "20" "35563508" "35563508" "subst" "8.12196E-6" "01602" "SAMHD1_000022" "g.35563508G>A" "" "" "" "" "" "Unknown" "" "rs121434517" "" "" "" "" "" "pathogenic" "ACMG" "0000926993" "0" "30" "20" "35545237" "35545237" "subst" "0" "02326" "C20orf118_000024" "g.35545237G>C" "" "" "" "SAMHD1(NM_015474.3):c.954-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926994" "0" "90" "20" "35555634" "35555635" "del" "4.06134E-6" "02326" "C20orf118_000016" "g.35555634_35555635del" "" "" "" "SAMHD1(NM_015474.3):c.646_647delAT (p.M216Vfs*2), SAMHD1(NM_015474.4):c.646_647delAT (p.M216Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951431" "0" "90" "20" "35563541" "35563541" "subst" "0" "02325" "SAMHD1_000013" "g.35563541G>A" "" "" "" "SAMHD1(NM_015474.4):c.400C>T (p.R134*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970135" "0" "50" "20" "35533784" "35533784" "subst" "7.71749E-5" "02325" "C20orf118_000025" "g.35533784G>T" "" "" "" "SAMHD1(NM_015474.4):c.1393C>A (p.Q465K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983792" "0" "50" "20" "35539668" "35539668" "subst" "4.06835E-6" "01804" "C20orf118_000026" "g.35539668C>G" "" "" "" "SAMHD1(NM_015474.4):c.1223G>C (p.(Arg408Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983793" "0" "50" "20" "35545404" "35545404" "subst" "4.06276E-6" "01804" "SAMHD1_000054" "g.35545404C>G" "" "" "" "SAMHD1(NM_015474.4):c.901G>C (p.(Val301Leu), p.V301L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015858" "0" "50" "20" "35545189" "35545189" "subst" "4.06306E-6" "02325" "C20orf118_000027" "g.35545189C>T" "" "" "" "SAMHD1(NM_015474.4):c.998G>A (p.R333H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015859" "0" "50" "20" "35545404" "35545404" "subst" "4.06276E-6" "02325" "SAMHD1_000054" "g.35545404C>G" "" "" "" "SAMHD1(NM_015474.4):c.901G>C (p.(Val301Leu), p.V301L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043335" "0" "30" "20" "35526366" "35526366" "subst" "0" "01804" "C20orf118_000028" "g.35526366T>G" "" "" "" "SAMHD1(NM_015474.4):c.1609-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044737" "0" "50" "20" "35547907" "35547907" "subst" "0" "03779" "SAMHD1_000056" "g.35547907C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "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 SAMHD1 ## Count = 100 "{{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}}" "0000000042" "00018398" "77" "1106" "0" "1106" "0" "c.1106T>C" "r.(?)" "p.(Leu369Ser)" "10" "0000000047" "00018398" "90" "1343" "0" "1343" "0" "c.1343T>C" "r.(?)" "p.(Ile448Thr)" "12" "0000130171" "00018398" "70" "625" "1" "625" "1" "c.625+1G>A" "r.spl?" "p.?" "" "0000182058" "00018398" "77" "-6085" "0" "208" "2691" "c.-6085_208+2691del" "r.0?" "p.0?" "_1_1i" "0000182059" "00018398" "77" "-6085" "0" "208" "2691" "c.-6085_208+2691del" "r.0?" "p.0?" "_1_1i" "0000182060" "00018398" "77" "-6085" "0" "208" "2691" "c.-6085_208+2691del" "r.0?" "p.0?" "_1_1i" "0000182061" "00018398" "77" "-6085" "0" "208" "2691" "c.-6085_208+2691del" "r.0?" "p.0?" "_1_1i" "0000182062" "00018398" "77" "-6085" "0" "208" "2691" "c.-6085_208+2691del" "r.0?" "p.0?" "_1_1i" "0000182063" "00018398" "77" "-6085" "0" "208" "2691" "c.-6085_208+2691del" "r.0?" "p.0?" "_1_1i" "0000182064" "00018398" "77" "-6085" "0" "208" "2691" "c.-6085_208+2691del" "r.0?" "p.0?" "_1_1i" "0000182065" "00018398" "77" "-6085" "0" "208" "2691" "c.-6085_208+2691del" "r.0?" "p.0?" "_1_1i" "0000182066" "00018398" "77" "-6085" "0" "208" "2691" "c.-6085_208+2691del" "r.0?" "p.0?" "_1_1i" "0000182067" "00018398" "77" "-6085" "0" "208" "2691" "c.-6085_208+2691del" "r.0?" "p.0?" "_1_1i" "0000182068" "00018398" "77" "1746" "1" "1746" "1" "c.1746+1G>T" "r.spl?" "p.(=)" "15i" "0000182069" "00018398" "30" "1657" "0" "1657" "0" "c.1657T>C" "r.(?)" "p.(Tyr553His)" "15" "0000182070" "00018398" "90" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Gln548*)" "15" "0000182071" "00018398" "90" "1609" "-1" "1609" "-1" "c.1609-1G>C" "r.spl?" "p.(=)" "14i" "0000182072" "00018398" "77" "1503" "1" "1503" "1" "c.1503+1G>T" "r.spl?" "p.(=)" "13i" "0000182073" "00018398" "77" "1476" "0" "1476" "0" "c.1476del" "r.(?)" "p.(Lys492Asnfs*2)" "13" "0000182074" "00018398" "77" "1476" "0" "1476" "0" "c.1476del" "r.(?)" "p.(Lys492Asnfs*2)" "13" "0000182075" "00018398" "77" "1411" "-2" "1411" "-2" "c.1411-2A>G" "r.spl?" "p.(=)" "12i" "0000182076" "00018398" "77" "1411" "-2" "1411" "-2" "c.1411-2A>G" "r.spl?" "p.(=)" "12i" "0000182077" "00018398" "77" "1411" "-2" "1411" "-2" "c.1411-2A>G" "r.spl?" "p.(=)" "12i" "0000182078" "00018398" "77" "1411" "-2" "1411" "-2" "c.1411-2A>G" "r.spl?" "p.(=)" "12i" "0000182080" "00018398" "77" "1273" "0" "1883" "0" "c.1273_*2del" "r.(?)" "p.(Asn425ValfsTer48)" "11i_16i" "0000182081" "00018398" "90" "1153" "0" "1153" "0" "c.1153A>G" "r.(?)" "p.(Met385Val)" "10" "0000182083" "00018398" "90" "1098" "0" "1098" "0" "c.1098dup" "r.(?)" "p.(Asn367Glnfs*6)" "10" "0000182084" "00018398" "90" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290His)" "7" "0000182085" "00018398" "90" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Met254Val)" "7" "0000182086" "00018398" "77" "648" "0" "648" "0" "c.648dup" "r.(?)" "p.(Phe217Valfs*2)" "6" "0000182087" "00018398" "77" "648" "0" "648" "0" "c.648dup" "r.(?)" "p.(Phe217Valfs*2)" "6" "0000182088" "00018398" "77" "648" "0" "648" "0" "c.648dup" "r.(?)" "p.(Phe217Valfs*2)" "6" "0000182089" "00018398" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Gly209Ser)" "5" "0000182090" "00018398" "90" "602" "0" "602" "0" "c.602T>A" "r.(?)" "p.(Ile201Asn)" "5" "0000182091" "00018398" "90" "602" "0" "602" "0" "c.602T>A" "r.(?)" "p.(Ile201Asn)" "5" "0000182092" "00018398" "90" "602" "0" "602" "0" "c.602T>A" "r.(?)" "p.(Ile201Asn)" "5" "0000182093" "00018398" "90" "602" "0" "602" "0" "c.602T>A" "r.(?)" "p.(Ile201Asn)" "5" "0000182094" "00018398" "90" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(His167Tyr)" "4" "0000182095" "00018398" "90" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164*)" "4" "0000182096" "00018398" "99" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Gln149*)" "4" "0000182097" "00018398" "90" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Arg145Gln)" "4" "0000182098" "00018398" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145*)" "4" "0000182099" "00018398" "90" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143His)" "4" "0000182100" "00018398" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Cys)" "4" "0000182101" "00018398" "55" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134*)" "4" "0000182102" "00018398" "90" "368" "0" "368" "0" "c.368A>C" "r.(?)" "p.(His123Pro)" "4" "0000182103" "00018398" "90" "359" "0" "370" "0" "c.359_370del" "r.(?)" "p.(Asp120_His123del)" "4" "0000182104" "00018398" "97" "-1" "0" "1503" "1" "c.(?_-1)_(1503+1_1504-1)del" "r.0" "p.0" "_1_13i" "0000251642" "00018398" "10" "510" "-190" "510" "-190" "c.510-190T>C" "r.(=)" "p.(=)" "" "0000255330" "00018398" "30" "1154" "15" "1154" "15" "c.1154+15T>G" "r.(=)" "p.(=)" "" "0000297899" "00018398" "30" "462" "0" "462" "0" "c.462C>T" "r.(?)" "p.(Tyr154=)" "" "0000299330" "00018398" "50" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Cys)" "" "0000301643" "00018398" "30" "1154" "135" "1154" "135" "c.1154+135A>T" "r.(=)" "p.(=)" "" "0000301644" "00018398" "50" "1756" "0" "1756" "0" "c.1756G>T" "r.(?)" "p.(Val586Phe)" "" "0000301645" "00018398" "10" "625" "43" "625" "43" "c.625+43C>A" "r.(=)" "p.(=)" "" "0000301646" "00018398" "30" "697" "-11" "697" "-11" "c.697-11A>G" "r.(=)" "p.(=)" "" "0000301647" "00018398" "30" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" "" "0000307705" "00018398" "30" "114" "0" "114" "0" "c.114C>G" "r.(?)" "p.(Leu38=)" "" "0000307706" "00018398" "50" "1593" "0" "1593" "0" "c.1593G>C" "r.(?)" "p.(Arg531Ser)" "" "0000307707" "00018398" "30" "1743" "0" "1743" "0" "c.1743G>A" "r.(?)" "p.(Pro581=)" "" "0000307708" "00018398" "50" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143His)" "" "0000343091" "00018398" "90" "1651" "0" "1651" "0" "c.1651C>T" "r.(?)" "p.(Arg551Ter)" "" "0000569522" "00018398" "30" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Ser482Asn)" "" "0000569523" "00018398" "30" "681" "0" "681" "0" "c.681G>A" "r.(?)" "p.(Pro227=)" "" "0000569524" "00018398" "30" "626" "-5" "626" "-5" "c.626-5T>C" "r.spl?" "p.?" "" "0000569525" "00018398" "50" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Gly170Arg)" "" "0000569526" "00018398" "30" "348" "18" "348" "18" "c.348+18T>G" "r.(=)" "p.(=)" "" "0000569527" "00018398" "30" "237" "0" "237" "0" "c.237T>C" "r.(?)" "p.(Pro79=)" "" "0000624152" "00018398" "30" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Val112Ile)" "" "0000658750" "00018398" "50" "933" "0" "933" "0" "c.933C>A" "r.(?)" "p.(Asp311Glu)" "" "0000658751" "00018398" "90" "626" "-1" "626" "-1" "c.626-1G>A" "r.spl?" "p.?" "" "0000681604" "00018398" "30" "1470" "0" "1470" "0" "c.1470C>T" "r.(?)" "p.(Asp490=)" "" "0000681605" "00018398" "30" "626" "-5" "626" "-5" "c.626-5T>C" "r.spl?" "p.?" "" "0000692972" "00018398" "30" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(Asp440=)" "" "0000692973" "00018398" "30" "275" "8" "275" "8" "c.275+8T>A" "r.(=)" "p.(=)" "" "0000692974" "00018398" "30" "237" "0" "237" "0" "c.237T>C" "r.(?)" "p.(Pro79=)" "" "0000692975" "00018398" "30" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Pro34=)" "" "0000727672" "00018398" "90" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164Ter)" "" "0000809234" "00018398" "30" "1340" "0" "1340" "0" "c.1340A>C" "r.(?)" "p.(Gln447Pro)" "" "0000809235" "00018398" "90" "646" "0" "647" "0" "c.646_647del" "r.(?)" "p.(Met216Valfs*2)" "" "0000809236" "00018398" "50" "434" "0" "434" "0" "c.434G>C" "r.(?)" "p.(Arg145Pro)" "" "0000855825" "00018398" "50" "1747" "-1" "1747" "-1" "c.1747-1G>T" "r.spl?" "p.?" "" "0000855826" "00018398" "70" "1651" "0" "1651" "0" "c.1651C>G" "r.(?)" "p.(Arg551Gly)" "" "0000855827" "00018398" "30" "1482" "0" "1482" "0" "c.1482G>A" "r.(?)" "p.(Lys494=)" "" "0000866446" "00018398" "90" "1618" "0" "1618" "0" "c.1618del" "r.(?)" "p.(Leu540Phefs*10)" "" "0000869082" "00018398" "70" "901" "0" "901" "0" "c.901G>C" "r.(?)" "p.(Val301Leu)" "" "0000882026" "00018398" "90" "626" "-1" "626" "-1" "c.626-1G>C" "r.[626_627ins[627-18_627-2;c],627_697del]" "p.[His210Serfs*5,Glu209Alafs*2]" "5i" "0000895290" "00018398" "50" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366Cys)" "" "0000895291" "00018398" "50" "1019" "0" "1019" "0" "c.1019T>A" "r.(?)" "p.(Val340Asp)" "" "0000918959" "00018398" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145*)" "" "0000926993" "00018398" "30" "954" "-4" "954" "-4" "c.954-4C>G" "r.spl?" "p.?" "" "0000926994" "00018398" "90" "646" "0" "647" "0" "c.646_647del" "r.(?)" "p.(Met216Valfs*2)" "" "0000951431" "00018398" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134*)" "" "0000970135" "00018398" "50" "1393" "0" "1393" "0" "c.1393C>A" "r.(?)" "p.(Gln465Lys)" "" "0000983792" "00018398" "50" "1223" "0" "1223" "0" "c.1223G>C" "r.(?)" "p.(Arg408Pro)" "" "0000983793" "00018398" "50" "901" "0" "901" "0" "c.901G>C" "r.(?)" "p.(Val301Leu)" "" "0001015858" "00018398" "50" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Arg333His)" "" "0001015859" "00018398" "50" "901" "0" "901" "0" "c.901G>C" "r.(?)" "p.(Val301Leu)" "" "0001043335" "00018398" "30" "1609" "-4" "1609" "-4" "c.1609-4A>C" "r.spl?" "p.?" "" "0001044737" "00018398" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Val238Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 53 "{{screeningid}}" "{{variantid}}" "0000000012" "0000000042" "0000000040" "0000000047" "0000080789" "0000000042" "0000081085" "0000130171" "0000100746" "0000000047" "0000113217" "0000182058" "0000113218" "0000182064" "0000113219" "0000182065" "0000113220" "0000182066" "0000113220" "0000182087" "0000113221" "0000182067" "0000113222" "0000182059" "0000113223" "0000182060" "0000113224" "0000182061" "0000113224" "0000182073" "0000113225" "0000182062" "0000113225" "0000182074" "0000113226" "0000182063" "0000113226" "0000182088" "0000113227" "0000182104" "0000113228" "0000182103" "0000113229" "0000182102" "0000113230" "0000182101" "0000113231" "0000182100" "0000113232" "0000182099" "0000113233" "0000182098" "0000113234" "0000182097" "0000113235" "0000182096" "0000113236" "0000182095" "0000113237" "0000182094" "0000113238" "0000182090" "0000113239" "0000182091" "0000113240" "0000182092" "0000113241" "0000182083" "0000113241" "0000182093" "0000113242" "0000182089" "0000113243" "0000182086" "0000113244" "0000182085" "0000113245" "0000182084" "0000113247" "0000182081" "0000113248" "0000182080" "0000113250" "0000182075" "0000113251" "0000182076" "0000113252" "0000182077" "0000113253" "0000182078" "0000113254" "0000182072" "0000113255" "0000182071" "0000113256" "0000182070" "0000113257" "0000182069" "0000113258" "0000182068" "0000411845" "0000869082" "0000421305" "0000882026" "0000433313" "0000918959"