### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AMPD1) # 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}}" "AMPD1" "adenosine monophosphate deaminase 1" "1" "p13" "unknown" "NG_008012.1" "UD_132119017177" "" "https://www.LOVD.nl/AMPD1" "" "1" "468" "270" "102770" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/AMPD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2019-07-10 09:49:32" "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}}" "00000154" "AMPD1" "adenosine monophosphate deaminase 1, transcript variant 1" "002" "NM_000036.2" "" "NP_000027.2" "" "" "" "-48" "2359" "2343" "115238239" "115215719" "00002" "2012-05-11 13:12:16" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "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" "02492" "LGMDR4;LGMD2E" "dystrophy, muscular, limb-girdle, autosomal recessive, type 4 (LGMD2E)" "AR" "604286" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-12 20:50:55" "03978" "MMDD" "myopathy, due to myoadenylate deaminase deficiency (MMDD)" "AR" "615511" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AMPD1" "03978" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00000024" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000027" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000028" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00080165" "" "" "" "1" "" "01200" "{PMID:Michot et al.2012:22464250}" "" "F" "?" "" "" "0" "" "" "" "" "00080166" "" "" "" "1" "" "01200" "{PMID:Michot et al.2012:22464250}" "" "F" "?" "" "" "0" "" "" "" "" "00248448" "" "" "00248445" "1" "" "00006" "{PMID:Dieterich 2013:23236030}" "" "" "yes" "Mali" "" "0" "" "" "Malian" "Fam1Pat4" "00289481" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289482" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289483" "" "" "" "84" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289484" "" "" "" "130" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289485" "" "" "" "126" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304140" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304141" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304142" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308679" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00309952" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00388003" "" "" "" "1" "" "04146" "{PMID:Chakravorty 2020:33250842}" "" "M" "?" "India" "" "" "" "" "" "Pat112" "00388585" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat1" "00388586" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat6" "00388663" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "M" "" "India" "" "0" "" "" "India" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00000024" "05378" "00080165" "01160" "00080166" "01160" "00248448" "00026" "00289481" "00198" "00289482" "00198" "00289483" "00198" "00289484" "00198" "00289485" "00198" "00304140" "00198" "00304141" "00198" "00304142" "00198" "00308679" "00000" "00309952" "00198" "00388003" "02492" "00388585" "00244" "00388586" "00244" "00388663" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00026, 00198, 00244, 01160, 02492, 03978, 05378 ## Count = 8 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "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" "" "0000235269" "00198" "00309952" "01807" "Unknown" "" "Ptosis (HP:0000508); Ophthalmoplegia (HP:0000602); Ragged-red muscle fibers (HP:0003200); Rhabdomyolysis (HP:0003201)" "" "" "" "" "" "" "" "" "" "" "" "" "0000281597" "02492" "00388003" "04146" "Familial, autosomal recessive" "12y" "HP:0003701 (proximal muscle weakness), HP:0030234 (highly elevated creatine kinase, 7646 U/L); difficulty getting up from ground and climbing stairs, calf hypertrophy; most-affected muscles hip and knee extensors, ankle dorsiflexors; no cardiac involvement; 12y-ambulant" "11y" "" "" "" "IHC no SGCB" "" "" "" "" "LGMD2E" "limb-girdle muscular dystrophy" "" "0000282125" "00244" "00388585" "00006" "Familial, autosomal recessive" "20y" "proximal muscle weakness; CK level 3561 IU/L; Soleus and Medial Gastrocnemius muscle MRI showing fatty replacement and atrophy; toe walking, difficulty climbing stairs and getting up from ground, winging of scapula and tendo-achilis contractures; most affected muscles: Serratus anterior, hip adductors, iliopsoas, hamstrings, and tibialis anterior; no cardiac involvement; 20y-ambulant" "08y" "" "" "" "" "" "" "" "" "" "" "" "0000282126" "00244" "00388586" "00006" "Familial, autosomal recessive" "20y" "proximal muscle weakness; CK level 3561 IU/L; Soleus and Medial Gastrocnemius muscle MRI showing fatty replacement and atrophy; toe walking, difficulty climbing stairs and getting up from ground, winging of scapula and tendo-achilis contractures; most affected muscles: Serratus anterior, hip adductors, iliopsoas, hamstrings, and tibialis anterior" "8y" "" "" "" "" "" "" "" "" "" "" "" "0000282203" "00244" "00388663" "00006" "Familial, autosomal recessive" "32y" "proximal muscle weakness; CK level 665 IU/L; mild to severe (wheelchair-bound) of both proximal and distal muscles, and dilated cardiomyopathy" "16y" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000024" "00000024" "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" "" "" "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" "" "0000249552" "00248448" "1" "00006" "00006" "2019-07-23 23:23:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000290649" "00289481" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290650" "00289482" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290651" "00289483" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290652" "00289484" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290653" "00289485" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305269" "00304140" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305270" "00304141" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305271" "00304142" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309824" "00308679" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000311100" "00309952" "1" "01807" "01807" "2020-09-07 13:55:01" "" "" "SEQ" "DNA" "" "" "0000389241" "00388003" "1" "04146" "04146" "2021-11-01 18:06:32" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000389827" "00388585" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000389828" "00388586" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000389905" "00388663" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{geneid}}" "0000000024" "AGA" "0000000024" "AMPD1" "0000000024" "ATP7B" "0000000024" "CBS" "0000000024" "CPT1A" "0000000024" "CYP21A2" "0000000024" "DPYD" "0000000024" "ETFB" "0000000024" "MEFV" "0000000024" "NPHP4" "0000000024" "NPHS1" "0000000024" "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" "0000249552" "ECEL1" "0000309824" "AMPD1" "0000389241" "SGCB" ## 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 = 39 "{{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}}" "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" "" "0000239984" "0" "50" "1" "115231254" "115231254" "subst" "0.0877526" "00006" "AMPD1_000001" "g.115231254G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.114688633G>A" "" "VUS" "" "0000260844" "0" "30" "1" "115226990" "115226990" "del" "0" "02326" "AMPD1_000004" "g.115226990del" "" "" "" "AMPD1(NM_000036.2):c.481-4delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114684369del" "" "likely benign" "" "0000260845" "0" "10" "1" "115222237" "115222237" "subst" "0.0288208" "02326" "AMPD1_000003" "g.115222237T>A" "" "" "" "AMPD1(NM_000036.2):c.959A>T (p.K320I), AMPD1(NM_000036.3):c.860A>T (p.K287I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114679616T>A" "" "benign" "" "0000262444" "0" "30" "1" "115238141" "115238141" "subst" "0" "01943" "AMPD1_000005" "g.115238141G>A" "" "" "" "AMPD1(NM_000036.2):c.51C>T (p.L17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114695520G>A" "" "likely benign" "" "0000320918" "0" "30" "1" "115216359" "115216359" "subst" "0.000369868" "01804" "AMPD1_000002" "g.115216359C>T" "" "" "" "AMPD1(NM_000036.2):c.2085G>A (p.(Met695Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114673738C>T" "" "likely benign" "" "0000502574" "0" "50" "1" "115226973" "115226973" "subst" "7.31939E-5" "02327" "AMPD1_000006" "g.115226973C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114684352C>T" "" "VUS" "" "0000502575" "0" "10" "1" "115229523" "115229523" "subst" "0.00503635" "01943" "AMPD1_000007" "g.115229523C>T" "" "" "" "AMPD1(NM_000036.2):c.323G>A (p.R108H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114686902C>T" "" "benign" "" "0000502576" "0" "10" "1" "115231254" "115231254" "subst" "0.0877526" "02327" "AMPD1_000001" "g.115231254G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114688633G>A" "" "benign" "" "0000502577" "0" "50" "1" "115231367" "115231370" "del" "0" "02325" "AMPD1_000008" "g.115231367_115231370del" "" "" "" "AMPD1(NM_000036.3):c.35-7_35-4delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114688746_114688749del" "" "VUS" "" "0000502578" "0" "10" "1" "115236057" "115236057" "subst" "0.0861965" "02327" "AMPD1_000009" "g.115236057G>A" "" "" "" "AMPD1(NM_000036.2):c.133C>T (p.Q45*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114693436G>A" "" "benign" "" "0000647338" "1" "50" "1" "115220086" "115220086" "subst" "0.000836698" "03575" "AMPD1_000010" "g.115220086C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs121912682}" "Germline" "" "rs121912682" "0" "" "" "g.114677465C>T" "" "VUS" "" "0000647339" "1" "50" "1" "115220593" "115220593" "subst" "0.000552334" "03575" "AMPD1_000011" "g.115220593G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs35859650}" "Germline" "" "rs35859650" "0" "" "" "g.114677972G>A" "" "VUS" "" "0000647340" "1" "50" "1" "115222237" "115222237" "subst" "0.0288208" "03575" "AMPD1_000003" "g.115222237T>A" "84/2737 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 84 heterozygous; {DB:CLININrs34526199}" "Germline" "" "rs34526199" "0" "" "" "g.114679616T>A" "" "VUS" "" "0000647341" "1" "30" "1" "115231254" "115231254" "subst" "0.0877526" "03575" "AMPD1_000001" "g.115231254G>A" "130/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "130 heterozygous; {DB:CLININrs61752479}" "Germline" "" "rs61752479" "0" "" "" "g.114688633G>A" "" "likely benign" "" "0000647342" "1" "50" "1" "115236057" "115236057" "subst" "0.0861965" "03575" "AMPD1_000009" "g.115236057G>A" "126/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "126 heterozygous; {DB:CLININrs17602729}" "Germline" "" "rs17602729" "0" "" "" "g.114693436G>A" "" "VUS" "" "0000668957" "3" "50" "1" "115222237" "115222237" "subst" "0.0288208" "03575" "AMPD1_000003" "g.115222237T>A" "2/2737 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 homozygous; {DB:CLININrs34526199}" "Germline" "" "rs34526199" "0" "" "" "g.114679616T>A" "" "VUS" "" "0000668958" "3" "30" "1" "115231254" "115231254" "subst" "0.0877526" "03575" "AMPD1_000001" "g.115231254G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs61752479}" "Germline" "" "rs61752479" "0" "" "" "g.114688633G>A" "" "likely benign" "" "0000668959" "3" "50" "1" "115236057" "115236057" "subst" "0.0861965" "03575" "AMPD1_000009" "g.115236057G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs17602729}" "Germline" "" "rs17602729" "0" "" "" "g.114693436G>A" "" "VUS" "" "0000684726" "0" "30" "1" "115220086" "115220086" "subst" "0.000836698" "00004" "AMPD1_000010" "g.115220086C>T" "frequency 0.023" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.114677465C>T" "" "likely benign" "" "0000686388" "3" "90" "1" "115236057" "115236057" "subst" "0.0861965" "01807" "AMPD1_000009" "g.115236057G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000687820" "0" "50" "1" "115221116" "115221116" "subst" "0.0032779" "01943" "AMPD1_000012" "g.115221116C>A" "" "" "" "AMPD1(NM_000036.2):c.1029G>T (p.M343I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716703" "0" "30" "1" "115238177" "115238177" "subst" "0" "01943" "AMPD1_000013" "g.115238177T>C" "" "" "" "AMPD1(NM_000036.2):c.15A>G (p.I5M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798685" "0" "50" "1" "115216583" "115216583" "subst" "4.06141E-6" "01943" "AMPD1_000014" "g.115216583C>G" "" "" "" "AMPD1(NM_000036.2):c.2020G>C (p.G674R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000819039" "0" "50" "1" "115229529" "115229529" "subst" "2.4371E-5" "00006" "AMPD1_000015" "g.115229529T>C" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000819176" "1" "70" "1" "115222237" "115222237" "subst" "0.0288208" "00006" "AMPD1_000003" "g.115222237T>A" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.114679616T>A" "" "likely pathogenic (recessive)" "ACMG" "0000819250" "2" "90" "1" "115236057" "115236057" "subst" "0.0861965" "00006" "AMPD1_000009" "g.115236057G>A" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.114693436G>A" "" "pathogenic (recessive)" "ACMG" "0000819251" "2" "90" "1" "115236057" "115236057" "subst" "0.0861965" "00006" "AMPD1_000009" "g.115236057G>A" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.114693436G>A" "" "pathogenic (recessive)" "ACMG" "0000819252" "2" "70" "1" "115238089" "115238089" "del" "0" "00006" "AMPD1_000016" "g.115238089del" "" "{PMID:Chakravorty 2020:33250842}" "" "c.104delC" "" "Germline" "" "" "0" "" "" "g.114695468del" "" "likely pathogenic (recessive)" "ACMG" "0000819266" "1" "70" "1" "115231254" "115231254" "subst" "0.0877526" "00006" "AMPD1_000001" "g.115231254G>A" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.114688633G>A" "" "likely pathogenic (recessive)" "ACMG" "0000819267" "1" "70" "1" "115231254" "115231254" "subst" "0.0877526" "00006" "AMPD1_000001" "g.115231254G>A" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.114688633G>A" "" "likely pathogenic (recessive)" "ACMG" "0000848238" "0" "30" "1" "115218260" "115218260" "subst" "0.000751416" "01943" "AMPD1_000017" "g.115218260A>T" "" "" "" "AMPD1(NM_000036.2):c.1669T>A (p.S557T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848239" "0" "50" "1" "115229523" "115229523" "subst" "8.12315E-6" "01943" "AMPD1_000019" "g.115229523C>A" "" "" "" "AMPD1(NM_000036.2):c.323G>T (p.R108L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856890" "0" "90" "1" "115222945" "115222945" "subst" "0" "01943" "AMPD1_000018" "g.115222945G>T" "" "" "" "AMPD1(NM_000036.2):c.801C>A (p.Y267*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000946936" "0" "10" "1" "115236057" "115236057" "subst" "0.0861965" "02326" "AMPD1_000009" "g.115236057G>A" "" "" "" "AMPD1(NM_000036.2):c.133C>T (p.Q45*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013195" "0" "10" "1" "115222237" "115222237" "subst" "0.0288208" "02325" "AMPD1_000003" "g.115222237T>A" "" "" "" "AMPD1(NM_000036.2):c.959A>T (p.K320I), AMPD1(NM_000036.3):c.860A>T (p.K287I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031079" "0" "50" "1" "115215866" "115215866" "subst" "0.000170565" "01804" "AMPD1_000020" "g.115215866A>G" "" "" "" "AMPD1(NM_000036.3):c.2113T>C (p.(Tyr705His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031080" "0" "50" "1" "115217379" "115217379" "subst" "0.000219339" "01804" "AMPD1_000021" "g.115217379T>A" "" "" "" "AMPD1(NM_000036.3):c.1794A>T (p.(Leu598Phe))" "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 AMPD1 ## Count = 39 "{{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}}" "0000000028" "00000154" "50" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "0000000029" "00000154" "50" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "0000239984" "00000154" "50" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "0000260844" "00000154" "30" "481" "-4" "481" "-4" "c.481-4del" "r.spl?" "p.?" "" "0000260845" "00000154" "10" "959" "0" "959" "0" "c.959A>T" "r.(?)" "p.(Lys320Ile)" "" "0000262444" "00000154" "30" "51" "0" "51" "0" "c.51C>T" "r.(?)" "p.(Leu17=)" "" "0000320918" "00000154" "30" "2085" "0" "2085" "0" "c.2085G>A" "r.(?)" "p.(Met695Ile)" "" "0000502574" "00000154" "50" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Asp165Asn)" "" "0000502575" "00000154" "10" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Arg108His)" "" "0000502576" "00000154" "10" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "0000502577" "00000154" "50" "134" "-7" "134" "-4" "c.134-7_134-4del" "r.spl?" "p.?" "" "0000502578" "00000154" "10" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Gln45Ter)" "" "0000647338" "00000154" "50" "1373" "0" "1373" "0" "c.1373G>A" "r.(?)" "p.(Arg458His)" "" "0000647339" "00000154" "50" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421Trp)" "" "0000647340" "00000154" "50" "959" "0" "959" "0" "c.959A>T" "r.(?)" "p.(Lys320Ile)" "" "0000647341" "00000154" "30" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "0000647342" "00000154" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Gln45*)" "" "0000668957" "00000154" "50" "959" "0" "959" "0" "c.959A>T" "r.(?)" "p.(Lys320Ile)" "" "0000668958" "00000154" "30" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "0000668959" "00000154" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Gln45*)" "" "0000684726" "00000154" "30" "1373" "0" "1373" "0" "c.1373G>A" "r.(?)" "p.(Arg458His)" "" "0000686388" "00000154" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Gln45Ter)" "" "0000687820" "00000154" "50" "1029" "0" "1029" "0" "c.1029G>T" "r.(?)" "p.(Met343Ile)" "" "0000716703" "00000154" "30" "15" "0" "15" "0" "c.15A>G" "r.(?)" "p.(Ile5Met)" "" "0000798685" "00000154" "50" "2020" "0" "2020" "0" "c.2020G>C" "r.(?)" "p.(Gly674Arg)" "" "0000819039" "00000154" "50" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Lys106Arg)" "" "0000819176" "00000154" "70" "959" "0" "959" "0" "c.959A>T" "r.(?)" "p.(Lys320Ile)" "" "0000819250" "00000154" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Gln45Ter)" "" "0000819251" "00000154" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Gln45Ter)" "" "0000819252" "00000154" "70" "104" "0" "104" "0" "c.104del" "r.(?)" "p.(Pro35LeufsTer87)" "" "0000819266" "00000154" "70" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "0000819267" "00000154" "70" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "0000848238" "00000154" "30" "1669" "0" "1669" "0" "c.1669T>A" "r.(?)" "p.(Ser557Thr)" "" "0000848239" "00000154" "50" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Arg108Leu)" "" "0000856890" "00000154" "90" "801" "0" "801" "0" "c.801C>A" "r.(?)" "p.(Tyr267*)" "" "0000946936" "00000154" "10" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Gln45Ter)" "" "0001013195" "00000154" "10" "959" "0" "959" "0" "c.959A>T" "r.(?)" "p.(Lys320Ile)" "" "0001031079" "00000154" "50" "2212" "0" "2212" "0" "c.2212T>C" "r.(?)" "p.(Tyr738His)" "" "0001031080" "00000154" "50" "1893" "0" "1893" "0" "c.1893A>T" "r.(?)" "p.(Leu631Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000000024" "0000239984" "0000000027" "0000000028" "0000000028" "0000000029" "0000080259" "0000000028" "0000080260" "0000000029" "0000249552" "0000000029" "0000290649" "0000647338" "0000290650" "0000647339" "0000290651" "0000647340" "0000290652" "0000647341" "0000290653" "0000647342" "0000305269" "0000668957" "0000305270" "0000668958" "0000305271" "0000668959" "0000309824" "0000684726" "0000311100" "0000686388" "0000389241" "0000819039" "0000389827" "0000819250" "0000389827" "0000819266" "0000389828" "0000819251" "0000389828" "0000819267" "0000389905" "0000819176" "0000389905" "0000819252"