### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = A2LD1)
# 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}}"
"A2LD1" "AIG2-like domain 1" "13" "q32.3" "unknown" "NC_000013.10" "UD_132439634146" "" "https://www.LOVD.nl/GGACT" "" "1" "25100" "87769" "613378" "1" "1" "1" "1" "NOTE: gene symbol was recently changed from A2LD1 to GGACT.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-04-13 16:24:07" "00000" "2022-05-09 15:51:19"
## 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}}"
"00001151" "A2LD1" "transcript variant 2" "001" "NM_001195087.1" "" "NP_001182016.1" "" "" "" "-235" "2428" "462" "101182418" "101241046" "00000" "2012-09-13 13:14:43" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00384615" "" "" "" "1" "" "00006" "{PMID:De Laurenzi 1996:8528251}" "3-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents" "F" "no" "Netherlands" "" "0" "" "" "" "Pat1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00000209" "01157"
"00384615" "05126"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 01157, 05126
## Count = 1
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385843" "00384615" "1" "00006" "00006" "2021-10-04 10:28:09" "" "" "arrayCGH" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000385843" "A2LD1"
## 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 = 65
"{{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}}"
"0000010602" "0" "50" "13" "101192069" "101192069" "del" "0" "00037" "A2LD1_000001" "g.101192069del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.100539815del" "" "VUS" ""
"0000247191" "0" "30" "13" "100962156" "100962156" "subst" "0.0425141" "02330" "PCCA_000007" "g.100962156A>G" "" "" "" "PCCA(NM_000282.3):c.1423A>G (p.I475V), PCCA(NM_000282.4):c.1423A>G (p.I475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100309902A>G" "" "likely benign" ""
"0000247195" "0" "10" "13" "100921056" "100921056" "subst" "0.981811" "02330" "PCCA_000027" "g.100921056A>G" "" "" "" "PCCA(NM_000282.3):c.914+19A>G, PCCA(NM_000282.4):c.914+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100268802A>G" "" "benign" ""
"0000247197" "0" "10" "13" "100888122" "100888122" "subst" "0.147656" "02330" "PCCA_000034" "g.100888122A>G" "" "" "" "PCCA(NM_000282.3):c.627A>G (p.A209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100235868A>G" "" "benign" ""
"0000247198" "0" "10" "13" "100962169" "100962169" "subst" "0.0159619" "02330" "PCCA_000037" "g.100962169A>G" "" "" "" "PCCA(NM_000282.3):c.1429+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100309915A>G" "" "benign" ""
"0000247201" "0" "30" "13" "100953802" "100953802" "subst" "0.0000203155" "02330" "PCCA_000028" "g.100953802A>G" "" "" "" "PCCA(NM_000282.3):c.1154A>G (p.K385R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100301548A>G" "" "likely benign" ""
"0000247202" "0" "30" "13" "100959532" "100959532" "subst" "0.0000983018" "02330" "PCCA_000030" "g.100959532A>G" "" "" "" "PCCA(NM_000282.3):c.1353+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100307278A>G" "" "likely benign" ""
"0000247203" "0" "70" "13" "100915048" "100915048" "subst" "0" "02330" "PCCA_000035" "g.100915048A>G" "" "" "" "PCCA(NM_000282.3):c.782A>G (p.E261G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100262794A>G" "" "likely pathogenic" ""
"0000248256" "0" "10" "13" "100962156" "100962156" "subst" "0.0425141" "02325" "PCCA_000007" "g.100962156A>G" "" "" "" "PCCA(NM_000282.3):c.1423A>G (p.I475V), PCCA(NM_000282.4):c.1423A>G (p.I475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100309902A>G" "" "benign" ""
"0000248447" "0" "10" "13" "100921056" "100921056" "subst" "0.981811" "02325" "PCCA_000027" "g.100921056A>G" "" "" "" "PCCA(NM_000282.3):c.914+19A>G, PCCA(NM_000282.4):c.914+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100268802A>G" "" "benign" ""
"0000249393" "0" "30" "13" "101101556" "101101556" "subst" "0.000598251" "02325" "PCCA_000031" "g.101101556A>G" "" "" "" "PCCA(NM_000282.3):c.1896A>G (p.T632=), PCCA(NM_000282.4):c.1896A>G (p.T632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100449302A>G" "" "likely benign" ""
"0000251702" "0" "30" "13" "100962156" "100962156" "subst" "0.0425141" "02326" "PCCA_000007" "g.100962156A>G" "" "" "" "PCCA(NM_000282.3):c.1423A>G (p.I475V), PCCA(NM_000282.4):c.1423A>G (p.I475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100309902A>G" "" "likely benign" ""
"0000251805" "0" "30" "13" "100955204" "100955204" "subst" "0.00250707" "02326" "PCCA_000029" "g.100955204A>G" "" "" "" "PCCA(NM_000282.3):c.1236A>G (p.P412=), PCCA(NM_000282.4):c.1236A>G (p.P412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100302950A>G" "" "likely benign" ""
"0000293437" "0" "90" "13" "100982841" "100982841" "subst" "0" "02330" "PCCA_000038" "g.100982841C>T" "" "" "" "PCCA(NM_000282.3):c.1456C>T (p.R486*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100330587C>T" "" "pathogenic" ""
"0000293438" "0" "10" "13" "100764078" "100764079" "del" "0" "02330" "PCCA_000024" "g.100764078_100764079del" "" "" "" "PCCA(NM_000282.3):c.184-17_184-16delGT, PCCA(NM_000282.4):c.184-17_184-16delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100111824_100111825del" "" "benign" ""
"0000296779" "0" "50" "13" "100959450" "100959450" "subst" "0.0000448826" "02325" "PCCA_000036" "g.100959450G>A" "" "" "" "PCCA(NM_000282.4):c.1289G>A (p.R430Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100307196G>A" "" "VUS" ""
"0000296780" "0" "10" "13" "100764078" "100764079" "del" "0" "02325" "PCCA_000025" "g.100764078_100764079del" "" "" "" "PCCA(NM_000282.3):c.184-17_184-16delGT, PCCA(NM_000282.4):c.184-17_184-16delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100111824_100111825del" "" "benign" ""
"0000296781" "0" "90" "13" "101167680" "101167680" "subst" "0" "02325" "PCCA_000032" "g.101167680G>A" "" "" "" "PCCA(NM_000282.4):c.1900-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100515426G>A" "" "pathogenic" ""
"0000305068" "0" "30" "13" "100764113" "100764113" "subst" "0.00000407754" "01943" "PCCA_000026" "g.100764113G>A" "" "" "" "PCCA(NM_000282.3):c.202G>A (p.V68I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100111859G>A" "" "likely benign" ""
"0000549638" "0" "30" "13" "100741416" "100741416" "subst" "0.000216205" "02326" "A2LD1_000002" "g.100741416C>T" "" "" "" "PCCA(NM_000282.4):c.42C>T (p.A14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100089162C>T" "" "likely benign" ""
"0000549639" "0" "10" "13" "100764078" "100764079" "del" "0" "02326" "PCCA_000024" "g.100764078_100764079del" "" "" "" "PCCA(NM_000282.3):c.184-17_184-16delGT, PCCA(NM_000282.4):c.184-17_184-16delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100111824_100111825del" "" "benign" ""
"0000549640" "0" "30" "13" "100764189" "100764192" "del" "0" "02326" "A2LD1_000003" "g.100764189_100764192del" "" "" "" "PCCA(NM_000282.4):c.231+47_231+50delTATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100111935_100111938del" "" "likely benign" ""
"0000549641" "0" "10" "13" "100888122" "100888122" "subst" "0.147656" "02327" "PCCA_000034" "g.100888122A>G" "" "" "" "PCCA(NM_000282.3):c.627A>G (p.A209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100235868A>G" "" "benign" ""
"0000549643" "0" "30" "13" "100920993" "100920993" "subst" "0.0000772125" "02326" "A2LD1_000005" "g.100920993C>T" "" "" "" "PCCA(NM_000282.4):c.870C>T (p.C290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100268739C>T" "" "likely benign" ""
"0000549644" "0" "10" "13" "100921056" "100921056" "subst" "0.981811" "02327" "PCCA_000027" "g.100921056A>G" "" "" "" "PCCA(NM_000282.3):c.914+19A>G, PCCA(NM_000282.4):c.914+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100268802A>G" "" "benign" ""
"0000549645" "0" "90" "13" "100925458" "100925458" "dup" "0" "01943" "A2LD1_000006" "g.100925458dup" "" "" "" "PCCA(NM_000282.3):c.923dupT (p.L308Ffs*35), PCCA(NM_000282.4):c.923dupT (p.L308Ffs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100273204dup" "" "pathogenic" ""
"0000549646" "0" "90" "13" "100925458" "100925458" "dup" "0" "02325" "A2LD1_000006" "g.100925458dup" "" "" "" "PCCA(NM_000282.3):c.923dupT (p.L308Ffs*35), PCCA(NM_000282.4):c.923dupT (p.L308Ffs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100273204dup" "" "pathogenic" ""
"0000549647" "0" "30" "13" "100925464" "100925464" "subst" "0.000723654" "01943" "A2LD1_000007" "g.100925464C>G" "" "" "" "PCCA(NM_000282.3):c.929C>G (p.A310G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100273210C>G" "" "likely benign" ""
"0000549648" "0" "30" "13" "100925605" "100925605" "subst" "0.000829316" "01943" "A2LD1_000008" "g.100925605C>T" "" "" "" "PCCA(NM_000282.3):c.1065+5C>T, PCCA(NM_000282.4):c.1065+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100273351C>T" "" "likely benign" ""
"0000549649" "0" "30" "13" "100953862" "100953862" "subst" "0" "01943" "A2LD1_000009" "g.100953862A>G" "" "" "" "PCCA(NM_000282.3):c.1209+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100301608A>G" "" "likely benign" ""
"0000549650" "0" "30" "13" "100955225" "100955225" "subst" "0.000471357" "02326" "A2LD1_000010" "g.100955225G>A" "" "" "" "PCCA(NM_000282.4):c.1257G>A (p.Q419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100302971G>A" "" "likely benign" ""
"0000549651" "0" "10" "13" "100955268" "100955268" "subst" "0.00441424" "02330" "A2LD1_000011" "g.100955268G>A" "" "" "" "PCCA(NM_000282.3):c.1284+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100303014G>A" "" "benign" ""
"0000549652" "0" "50" "13" "100959450" "100959450" "subst" "0.0000448826" "02327" "PCCA_000036" "g.100959450G>A" "" "" "" "PCCA(NM_000282.4):c.1289G>A (p.R430Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100307196G>A" "" "VUS" ""
"0000549655" "0" "10" "13" "101020733" "101020733" "subst" "0.00803138" "02330" "PCCA_000008" "g.101020733G>T" "" "" "" "PCCA(NM_000282.3):c.1651G>T (p.V551F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100368479G>T" "" "benign" ""
"0000549656" "0" "10" "13" "101101497" "101101497" "subst" "0.00157705" "02330" "A2LD1_000013" "g.101101497G>T" "" "" "" "PCCA(NM_000282.3):c.1846-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100449243G>T" "" "benign" ""
"0000549657" "0" "30" "13" "101101510" "101101510" "subst" "0.00101192" "01804" "A2LD1_000014" "g.101101510T>C" "" "" "" "PCCA(NM_000282.3):c.1850T>C (p.(Leu617Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100449256T>C" "" "likely benign" ""
"0000549658" "0" "50" "13" "101101556" "101101556" "subst" "0.000598251" "01943" "PCCA_000031" "g.101101556A>G" "" "" "" "PCCA(NM_000282.3):c.1896A>G (p.T632=), PCCA(NM_000282.4):c.1896A>G (p.T632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100449302A>G" "" "VUS" ""
"0000549659" "0" "30" "13" "101167776" "101167776" "subst" "0.00000812282" "02326" "A2LD1_000015" "g.101167776G>A" "" "" "" "PCCA(NM_000282.4):c.1995G>A (p.P665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100515522G>A" "" "likely benign" ""
"0000549660" "0" "30" "13" "101167798" "101167798" "subst" "0.0025074" "02326" "A2LD1_000016" "g.101167798G>C" "" "" "" "PCCA(NM_000282.4):c.2017G>C (p.V673L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100515544G>C" "" "likely benign" ""
"0000549661" "0" "30" "13" "101182405" "101182405" "subst" "0.00105615" "02330" "A2LD1_000017" "g.101182405C>T" "" "" "" "PCCA(NM_000282.3):c.2172C>T (p.L724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100530151C>T" "" "likely benign" ""
"0000549662" "0" "30" "13" "101182405" "101182405" "subst" "0.00105615" "01943" "A2LD1_000017" "g.101182405C>T" "" "" "" "PCCA(NM_000282.3):c.2172C>T (p.L724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100530151C>T" "" "likely benign" ""
"0000614461" "0" "50" "13" "100764314" "100764314" "subst" "0" "01943" "A2LD1_000018" "g.100764314C>T" "" "" "" "PCCA(NM_000282.3):c.299C>T (p.S100F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100112060C>T" "" "VUS" ""
"0000614462" "0" "50" "13" "100861643" "100861643" "subst" "0.00000406243" "02327" "A2LD1_000019" "g.100861643G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100209389G>A" "" "VUS" ""
"0000614463" "0" "50" "13" "100915008" "100915008" "subst" "0" "02327" "A2LD1_000020" "g.100915008G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100262754G>A" "" "VUS" ""
"0000614464" "0" "70" "13" "100953786" "100953786" "dup" "0" "02327" "A2LD1_000021" "g.100953786dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100301532dup" "" "likely pathogenic" ""
"0000614465" "0" "50" "13" "100953808" "100953808" "subst" "0.00000406296" "02327" "A2LD1_000022" "g.100953808C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100301554C>G" "" "VUS" ""
"0000623008" "0" "30" "13" "100925605" "100925605" "subst" "0.000829316" "02326" "A2LD1_000008" "g.100925605C>T" "" "" "" "PCCA(NM_000282.3):c.1065+5C>T, PCCA(NM_000282.4):c.1065+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100273351C>T" "" "likely benign" ""
"0000623010" "0" "30" "13" "101020840" "101020840" "subst" "0.0000040665" "02326" "A2LD1_000024" "g.101020840T>C" "" "" "" "PCCA(NM_000282.4):c.1746+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100368586T>C" "" "likely benign" ""
"0000657223" "0" "30" "13" "100741410" "100741410" "subst" "0.000183259" "01943" "A2LD1_000025" "g.100741410C>T" "" "" "" "PCCA(NM_000282.3):c.36C>T (p.V12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100089156C>T" "" "likely benign" ""
"0000657224" "0" "30" "13" "100925605" "100925605" "subst" "0.000829316" "02325" "A2LD1_000008" "g.100925605C>T" "" "" "" "PCCA(NM_000282.3):c.1065+5C>T, PCCA(NM_000282.4):c.1065+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100273351C>T" "" "likely benign" ""
"0000657225" "0" "50" "13" "100953816" "100953816" "subst" "0.0000528198" "02325" "A2LD1_000026" "g.100953816C>T" "" "" "" "PCCA(NM_000282.4):c.1168C>T (p.R390C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100301562C>T" "" "VUS" ""
"0000679702" "0" "50" "13" "100982911" "100982911" "subst" "0" "01804" "A2LD1_000027" "g.100982911C>T" "" "" "" "PCCA(NM_000282.3):c.1526C>T (p.(Pro509Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691455" "0" "50" "13" "100925572" "100925572" "subst" "0.00000406365" "02325" "A2LD1_000028" "g.100925572A>G" "" "" "" "PCCA(NM_000282.4):c.1037A>G (p.Y346C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691456" "0" "50" "13" "101167813" "101167813" "subst" "0" "01943" "A2LD1_000029" "g.101167813G>A" "" "" "" "PCCA(NM_000282.3):c.2032G>A (p.G678R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691457" "0" "30" "13" "101167832" "101167832" "dup" "0" "02326" "A2LD1_000030" "g.101167832dup" "" "" "" "PCCA(NM_000282.3):c.2040+11dupT, PCCA(NM_000282.4):c.2040+11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724318" "0" "90" "13" "100741481" "100741481" "subst" "0" "01943" "A2LD1_000031" "g.100741481T>G" "" "" "" "PCCA(NM_000282.3):c.105+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724319" "0" "50" "13" "100959469" "100959469" "subst" "0" "01943" "A2LD1_000032" "g.100959469A>C" "" "" "" "PCCA(NM_000282.3):c.1308A>C (p.Q436H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724320" "0" "70" "13" "100962142" "100962142" "subst" "0" "02329" "A2LD1_000023" "g.100962142T>G" "" "" "" "PCCA(NM_000282.3):c.1409T>G (p.L470R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000724321" "0" "30" "13" "100992428" "100992428" "subst" "0.000357825" "01943" "A2LD1_000033" "g.100992428A>T" "" "" "" "PCCA(NM_000282.3):c.1558A>T (p.S520C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724322" "0" "30" "13" "101167832" "101167832" "dup" "0" "01943" "A2LD1_000030" "g.101167832dup" "" "" "" "PCCA(NM_000282.3):c.2040+11dupT, PCCA(NM_000282.4):c.2040+11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805991" "0" "30" "13" "100861586" "100861586" "subst" "0.0000121881" "01943" "A2LD1_000034" "g.100861586G>T" "" "" "" "PCCA(NM_000282.3):c.469G>T (p.A157S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805992" "0" "50" "13" "101167774" "101167774" "subst" "0" "01943" "A2LD1_000035" "g.101167774C>T" "" "" "" "PCCA(NM_000282.3):c.1993C>T (p.P665S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000813000" "0" "90" "13" "101184845" "101184845" "subst" "0" "00006" "A2LD1_000036" "g.101184845T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000853564" "0" "90" "13" "100962142" "100962142" "subst" "0" "02327" "A2LD1_000023" "g.100962142T>G" "" "" "" "PCCA(NM_000282.3):c.1409T>G (p.L470R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000863165" "0" "30" "13" "100955204" "100955204" "subst" "0.00250707" "01943" "PCCA_000029" "g.100955204A>G" "" "" "" "PCCA(NM_000282.3):c.1236A>G (p.P412=), PCCA(NM_000282.4):c.1236A>G (p.P412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes A2LD1
## Count = 65
"{{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}}"
"0000010602" "00001151" "50" "-10" "-7214" "-10" "-7214" "c.-10-7214del" "r.(=)" "p.(=)" ""
"0000247191" "00001151" "30" "222690" "0" "222690" "0" "c.*222228T>C" "r.(=)" "p.(=)" ""
"0000247195" "00001151" "10" "263790" "0" "263790" "0" "c.*263328T>C" "r.(=)" "p.(=)" ""
"0000247197" "00001151" "10" "296724" "0" "296724" "0" "c.*296262T>C" "r.(=)" "p.(=)" ""
"0000247198" "00001151" "10" "222677" "0" "222677" "0" "c.*222215T>C" "r.(=)" "p.(=)" ""
"0000247201" "00001151" "30" "231044" "0" "231044" "0" "c.*230582T>C" "r.(=)" "p.(=)" ""
"0000247202" "00001151" "30" "225314" "0" "225314" "0" "c.*224852T>C" "r.(=)" "p.(=)" ""
"0000247203" "00001151" "70" "269798" "0" "269798" "0" "c.*269336T>C" "r.(=)" "p.(=)" ""
"0000248256" "00001151" "10" "222690" "0" "222690" "0" "c.*222228T>C" "r.(=)" "p.(=)" ""
"0000248447" "00001151" "10" "263790" "0" "263790" "0" "c.*263328T>C" "r.(=)" "p.(=)" ""
"0000249393" "00001151" "30" "83290" "0" "83290" "0" "c.*82828T>C" "r.(=)" "p.(=)" ""
"0000251702" "00001151" "30" "222690" "0" "222690" "0" "c.*222228T>C" "r.(=)" "p.(=)" ""
"0000251805" "00001151" "30" "229642" "0" "229642" "0" "c.*229180T>C" "r.(=)" "p.(=)" ""
"0000293437" "00001151" "90" "202005" "0" "202005" "0" "c.*201543G>A" "r.(=)" "p.(=)" ""
"0000293438" "00001151" "10" "420770" "0" "420771" "0" "c.*420308_*420309del" "r.(=)" "p.(=)" ""
"0000296779" "00001151" "50" "225396" "0" "225396" "0" "c.*224934C>T" "r.(=)" "p.(=)" ""
"0000296780" "00001151" "10" "420770" "0" "420771" "0" "c.*420308_*420309del" "r.(=)" "p.(=)" ""
"0000296781" "00001151" "90" "17166" "0" "17166" "0" "c.*16704C>T" "r.(=)" "p.(=)" ""
"0000305068" "00001151" "30" "420733" "0" "420733" "0" "c.*420271C>T" "r.(=)" "p.(=)" ""
"0000549638" "00001151" "30" "443430" "0" "443430" "0" "c.*442968G>A" "r.(=)" "p.(=)" ""
"0000549639" "00001151" "10" "420770" "0" "420771" "0" "c.*420308_*420309del" "r.(=)" "p.(=)" ""
"0000549640" "00001151" "30" "420659" "0" "420662" "0" "c.*420197_*420200del" "r.(=)" "p.(=)" ""
"0000549641" "00001151" "10" "296724" "0" "296724" "0" "c.*296262T>C" "r.(=)" "p.(=)" ""
"0000549643" "00001151" "30" "263853" "0" "263853" "0" "c.*263391G>A" "r.(=)" "p.(=)" ""
"0000549644" "00001151" "10" "263790" "0" "263790" "0" "c.*263328T>C" "r.(=)" "p.(=)" ""
"0000549645" "00001151" "90" "259394" "0" "259394" "0" "c.*258932dup" "r.(?)" "p.(=)" ""
"0000549646" "00001151" "90" "259394" "0" "259394" "0" "c.*258932dup" "r.(?)" "p.(=)" ""
"0000549647" "00001151" "30" "259382" "0" "259382" "0" "c.*258920G>C" "r.(=)" "p.(=)" ""
"0000549648" "00001151" "30" "259241" "0" "259241" "0" "c.*258779G>A" "r.(=)" "p.(=)" ""
"0000549649" "00001151" "30" "230984" "0" "230984" "0" "c.*230522T>C" "r.(=)" "p.(=)" ""
"0000549650" "00001151" "30" "229621" "0" "229621" "0" "c.*229159C>T" "r.(=)" "p.(=)" ""
"0000549651" "00001151" "10" "229578" "0" "229578" "0" "c.*229116C>T" "r.(=)" "p.(=)" ""
"0000549652" "00001151" "50" "225396" "0" "225396" "0" "c.*224934C>T" "r.(=)" "p.(=)" ""
"0000549655" "00001151" "10" "164113" "0" "164113" "0" "c.*163651C>A" "r.(=)" "p.(=)" ""
"0000549656" "00001151" "10" "83349" "0" "83349" "0" "c.*82887C>A" "r.(=)" "p.(=)" ""
"0000549657" "00001151" "30" "83336" "0" "83336" "0" "c.*82874A>G" "r.(=)" "p.(=)" ""
"0000549658" "00001151" "50" "83290" "0" "83290" "0" "c.*82828T>C" "r.(=)" "p.(=)" ""
"0000549659" "00001151" "30" "17070" "0" "17070" "0" "c.*16608C>T" "r.(=)" "p.(=)" ""
"0000549660" "00001151" "30" "17048" "0" "17048" "0" "c.*16586C>G" "r.(=)" "p.(=)" ""
"0000549661" "00001151" "30" "2441" "0" "2441" "0" "c.*1979G>A" "r.(=)" "p.(=)" ""
"0000549662" "00001151" "30" "2441" "0" "2441" "0" "c.*1979G>A" "r.(=)" "p.(=)" ""
"0000614461" "00001151" "50" "420532" "0" "420532" "0" "c.*420070G>A" "r.(=)" "p.(=)" ""
"0000614462" "00001151" "50" "323203" "0" "323203" "0" "c.*322741C>T" "r.(=)" "p.(=)" ""
"0000614463" "00001151" "50" "269838" "0" "269838" "0" "c.*269376C>T" "r.(=)" "p.(=)" ""
"0000614464" "00001151" "70" "231060" "0" "231060" "0" "c.*230598dup" "r.(?)" "p.(=)" ""
"0000614465" "00001151" "50" "231038" "0" "231038" "0" "c.*230576G>C" "r.(=)" "p.(=)" ""
"0000623008" "00001151" "30" "259241" "0" "259241" "0" "c.*258779G>A" "r.(=)" "p.(=)" ""
"0000623010" "00001151" "30" "164006" "0" "164006" "0" "c.*163544A>G" "r.(=)" "p.(=)" ""
"0000657223" "00001151" "30" "443436" "0" "443436" "0" "c.*442974G>A" "r.(=)" "p.(=)" ""
"0000657224" "00001151" "30" "259241" "0" "259241" "0" "c.*258779G>A" "r.(=)" "p.(=)" ""
"0000657225" "00001151" "50" "231030" "0" "231030" "0" "c.*230568G>A" "r.(=)" "p.(=)" ""
"0000679702" "00001151" "50" "201935" "0" "201935" "0" "c.*201473G>A" "r.(=)" "p.(=)" ""
"0000691455" "00001151" "50" "259274" "0" "259274" "0" "c.*258812T>C" "r.(=)" "p.(=)" ""
"0000691456" "00001151" "50" "17033" "0" "17033" "0" "c.*16571C>T" "r.(=)" "p.(=)" ""
"0000691457" "00001151" "30" "17014" "0" "17014" "0" "c.*16552dup" "r.(?)" "p.(=)" ""
"0000724318" "00001151" "90" "443365" "0" "443365" "0" "c.*442903A>C" "r.(=)" "p.(=)" ""
"0000724319" "00001151" "50" "225377" "0" "225377" "0" "c.*224915T>G" "r.(=)" "p.(=)" ""
"0000724320" "00001151" "70" "222704" "0" "222704" "0" "c.*222242A>C" "r.(=)" "p.(=)" ""
"0000724321" "00001151" "30" "192418" "0" "192418" "0" "c.*191956T>A" "r.(=)" "p.(=)" ""
"0000724322" "00001151" "30" "17014" "0" "17014" "0" "c.*16552dup" "r.(?)" "p.(=)" ""
"0000805991" "00001151" "30" "323260" "0" "323260" "0" "c.*322798C>A" "r.(=)" "p.(=)" ""
"0000805992" "00001151" "50" "17072" "0" "17072" "0" "c.*16610G>A" "r.(=)" "p.(=)" ""
"0000813000" "00001151" "90" "1" "0" "1" "0" "c.1A>G" "r.?" "p.?" ""
"0000853564" "00001151" "90" "222704" "0" "222704" "0" "c.*222242A>C" "r.(=)" "p.(=)" ""
"0000863165" "00001151" "30" "229642" "0" "229642" "0" "c.*229180T>C" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000000210" "0000010602"
"0000385843" "0000813000"