### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AGL) # 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}}" "AGL" "amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase" "1" "p21.2" "unknown" "NG_012865.1" "UD_144407858026" "" "" "" "1" "321" "178" "610860" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-07 15:59:42" "" "" "00006" "2021-09-08 11:26:16" ## 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}}" "00000056" "AGL" "transcript variant 1" "002" "NM_000642.2" "" "NP_000633.2" "" "" "" "-400" "6971" "4599" "99850084" "99924023" "00001" "2020-12-07 16:02:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00036" "GSD III" "Glycogen storage disease type III" "" "" "" "" "" "00001" "2020-12-07 15:59:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AGL" "00036" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000229" "" "" "" "1" "" "00002" "{PMID:Ili Syazwana Abdullah et al .(2019):31028654}" "" "" "Malaysia" "Malay" "" "M" "00000230" "" "" "" "1" "" "00002" "{PMID:Ili Syazwana Abdullah et al. 2019):31028654}" "" "" "Malaysia" "Malay" "" "F" "00000231" "" "" "" "1" "" "00002" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}" "" "" "Malaysia" "Chinese" "" "F" "00000232" "" "" "" "1" "" "00002" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}" "" "" "Malaysia" "Chinese" "" "M" "00000233" "" "" "" "1" "" "00002" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}" "" "" "Malaysia" "Bajau" "" "F" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000229" "00036" "00000230" "00036" "00000231" "00036" "00000232" "00036" "00000233" "00036" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00036 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000114" "00036" "00000229" "00002" "" "Familial, autosomal recessive" "0000000115" "00036" "00000230" "00002" "" "Familial, autosomal recessive" "0000000116" "00036" "00000231" "00002" "" "Familial, autosomal recessive" "0000000117" "00036" "00000232" "00002" "" "Familial, autosomal recessive" "0000000118" "00036" "00000233" "00002" "" "Familial, autosomal recessive" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000244" "00000229" "1" "00002" "00002" "2020-12-07 16:08:44" "" "" "PCRdig;TaqMan" "DNA" "0000000245" "00000230" "1" "00002" "00002" "2020-12-07 16:30:21" "" "" "PCRdig;TaqMan" "DNA" "0000000246" "00000231" "1" "00002" "00002" "2020-12-07 16:41:48" "" "" "PCRdig;TaqMan" "DNA" "0000000247" "00000232" "1" "00002" "00002" "2020-12-07 16:50:31" "" "" "PCRdig;TaqMan" "DNA" "0000000248" "00000233" "1" "00002" "00002" "2020-12-07 16:56:18" "" "" "PCRdig;TaqMan" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000000244" "AGL" "0000000245" "AGL" "0000000246" "AGL" "0000000247" "AGL" "0000000248" "AGL" ## 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 = 12 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001145" "0" "90" "1" "99884704" "99884704" "subst" "0" "00002" "AGL_000001" "g.99884704G>A" "6/14" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}{dbSNP:rs201201443}" "" "" "rs201201443" "0000001146" "0" "90" "1" "99891321" "99891322" "del" "0" "00002" "AGL_000002" "g.99891321_99891322delAA" "1/14" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}" "" "" "" "0000001147" "0" "90" "1" "99921542" "99921542" "subst" "0" "00002" "AGL_000003" "g.99921542G>A" "2/14" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}" "" "" "rs1555397212" "0000001148" "0" "90" "1" "99910825" "99910826" "del" "0" "00002" "AGL_000004" "g.99910825_99910826delAG" "3/14" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}" "" "" "" "0000001149" "0" "90" "1" "99861519" "99861519" "subst" "0" "00002" "AGL_000005" "g.99861519C>T" "2/14" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}" "" "" "rs886048021" "0000001150" "0" "70" "1" "99876598" "99876598" "subst" "0" "00002" "AGL_000006" "g.99876598G>T" "1/2" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}{dbSNP:rs751952198}" "" "" "rs751952198" "0000001151" "0" "90" "1" "99884704" "99884704" "subst" "0" "00002" "AGL_000001" "g.99884704G>A" "1/2" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}{dbSNP:rs201201443}" "" "" "rs201201443" "0000001152" "0" "90" "1" "99916483" "99916483" "subst" "0" "00002" "AGL_000007" "g.99916483T>G" "1/2" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}" "" "" "" "0000001153" "0" "90" "1" "99921583" "99921586" "del" "0" "00002" "AGL_000008" "g.99921583_99921586delTGTC" "1/2" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}" "" "" "" "0000001154" "0" "90" "1" "99916483" "99916483" "subst" "0" "00002" "AGL_000007" "g.99916483T>G" "1/2" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}" "" "" "" "0000001155" "0" "90" "1" "99921583" "99921586" "del" "0" "00002" "AGL_000008" "g.99921583_99921586delTGTC" "1/2" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}" "" "" "" "0000001156" "0" "30" "1" "99880679" "99880679" "subst" "0" "00002" "AGL_000009" "g.99880679C>T" "2" "{PMID:Ili Syazwana Abdullah et al. (2019):31028654}{dbSNP:rs150866831}" "" "" "rs150866831" ## 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 AGL ## Count = 12 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001145" "00000056" "90" "2681" "1" "2681" "1" "c.2681+1G>A" "21" "p.?" "r.spl?" "" "" "{ClinVar:281229}" "0000001146" "00000056" "90" "2914" "0" "2915" "0" "c.2914_2915delAA" "23" "p.(Asn972Profs*11)" "r.(?)" "" "" "" "0000001147" "00000056" "90" "4490" "0" "4490" "0" "c.4490G>A" "35" "p.(Trp1497*)" "r.(?)" "" "" "" "0000001148" "00000056" "90" "3814" "0" "3815" "0" "c.3814_3815delAG" "29" "p.(Gly1273Asnfs*18)" "r.(?)" "" "" "" "0000001149" "00000056" "90" "99" "0" "99" "0" "c.99C>T" "4" "p.(=)" "r.(=)" "" "" "" "0000001150" "00000056" "70" "1423" "1" "1423" "1" "c.1423+1G>T" "12i" "p.?" "r.spl?" "" "" "{ClinVar:389650}" "0000001151" "00000056" "90" "2681" "1" "2681" "1" "c.2681+1G>A" "21" "p.?" "r.spl?" "" "" "{ClinVar:281229}" "0000001152" "00000056" "90" "4333" "0" "4333" "0" "c.4333T>G" "33" "p.(Tyr1445Asp)" "r.(?)" "" "" "" "0000001153" "00000056" "90" "4531" "0" "4534" "0" "c.4531_4534delTGTC" "35" "p.(Cys1511Leufs*35)" "r.(?)" "" "" "" "0000001154" "00000056" "90" "4333" "0" "4333" "0" "c.4333T>G" "33" "p.(Tyr1445Asp)" "r.(?)" "" "" "" "0000001155" "00000056" "90" "4531" "0" "4534" "0" "c.4531_4534delTGTC" "35" "p.(Cys1511Leufs*35)" "r.(?)" "" "" "" "0000001156" "00000056" "30" "1783" "0" "1783" "0" "c.1783C>T" "15" "p.(Arg595*)" "r.(?)" "" "" "{ClinVar:736798}" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000244" "0000001145" "0000000244" "0000001146" "0000000244" "0000001147" "0000000244" "0000001148" "0000000244" "0000001149" "0000000245" "0000001150" "0000000245" "0000001151" "0000000246" "0000001152" "0000000246" "0000001153" "0000000247" "0000001154" "0000000247" "0000001155" "0000000248" "0000001156"