### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ACRC)
# 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}}"
"ACRC" "acidic repeat containing" "X" "q13.1" "unknown" "NC_000023.10" "UD_134753367282" "" "https://www.LOVD.nl/GCNA" "" "1" "15805" "93953" "300369" "1" "1" "1" "1" "NOTE: gene name changed from ACRC to GCNA\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ACRC_codingDNA.html" "1" "" "NOTE: gene name changed from ACRC to GCNA" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-08-19 17:17:35" "00000" "2025-05-05 21:14:00"
## 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}}"
"00000827" "ACRC" "acidic repeat containing" "001" "NM_052957.4" "" "NP_443189.1" "" "" "" "-501" "2677" "2076" "70797874" "70833433" "00000" "2012-09-13 12:54:35" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" ""
"05895" "INF" "infertility" "" "" "" "" "" "00006" "2021-02-04 08:41:37" "" ""
"06958" "SPGFX4" "spermatogenic failure, X-linked, type 4" "XL" "301077" "" "" "" "00006" "2022-08-19 17:17:03" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"ACRC" "05562"
"ACRC" "06958"
## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{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}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00376836" "" "" "" "1" "" "01351" "" "" "M" "yes" "Israel" "" "0" "" "" "Bedouin" "Pat1"
"00376843" "" "" "" "1" "" "01351" "" "" "M" "yes" "Israel" "" "0" "" "" "Arab" "Pat2"
"00403088" "" "" "" "1" "" "00006" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "analysis 96 unrelated men" "M" "" "Algeria" "" "0" "" "" "" "P0137"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00376836" "05895"
"00376843" "05895"
"00403088" "00201"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00201, 01157, 05562, 05895, 06958
## Count = 4
"{{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}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" ""
"0000272063" "05895" "00376843" "01351" "Unknown" "" "" "" "" "" "" "" "" "" "Oligo- astheno-terato-astenozoospermia (OAT)" "male infertility"
"0000272064" "05895" "00376836" "01351" "Unknown" "" "" "" "" "" "" "" "" "" "azoospermia" "male infertility"
"0000295835" "00201" "00403088" "00006" "Familial, autosomal recessive" "" "left/right testis volume >15/>15 mL; FSH 2.24 IU/L; testis pre-meiotic spermatogenic arrest; sperm retrieval negative; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics" "" "" "" "" "" "" "" "" "non-obstructive azoospermia"
## Screenings ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000378041" "00376836" "1" "01351" "01351" "2021-06-25 16:05:37" "" "" "PCRdig" "DNA" "blood" ""
"0000378048" "00376843" "1" "01351" "01351" "2021-06-25 16:21:48" "" "" "PCRdig" "DNA" "blood" ""
"0000404329" "00403088" "1" "00006" "00006" "2022-02-16 19:52:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{geneid}}"
"0000378041" "ACRC"
"0000378048" "ACRC"
"0000404329" "ACRC"
## 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 = 49
"{{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}}"
"0000003047" "0" "50" "X" "70831960" "70831961" "del" "0" "00037" "ACRC_000004" "g.70831960_70831961del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71612110_71612111del" "" "VUS" ""
"0000003048" "0" "50" "X" "70832159" "70832159" "del" "0" "00037" "ACRC_000005" "g.70832159del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71612309del" "" "VUS" ""
"0000007140" "0" "50" "X" "70833255" "70833255" "subst" "0" "00037" "ACRC_000003" "g.70833255T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71613405T>G" "" "VUS" ""
"0000254615" "0" "30" "X" "70824465" "70824465" "subst" "0" "01943" "ACRC_000015" "g.70824465A>C" "" "" "" "ACRC(NM_052957.4):c.1338A>C (p.K446N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71604615A>C" "" "likely benign" ""
"0000254750" "0" "30" "X" "70817879" "70817879" "subst" "1.69396E-5" "01943" "ACRC_000006" "g.70817879A>G" "" "" "" "ACRC(NM_052957.4):c.301A>G (p.N101D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71598029A>G" "" "likely benign" ""
"0000261794" "0" "30" "X" "70823692" "70823692" "subst" "0.000436892" "01943" "ACRC_000008" "g.70823692C>T" "" "" "" "ACRC(NM_052957.4):c.565C>T (p.P189S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71603842C>T" "" "likely benign" ""
"0000261795" "0" "30" "X" "70823845" "70823845" "subst" "0" "01943" "ACRC_000012" "g.70823845G>T" "" "" "" "ACRC(NM_052957.4):c.718G>T (p.D240Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71603995G>T" "" "likely benign" ""
"0000274648" "0" "30" "X" "70837226" "70837226" "subst" "0" "01943" "CXCR3_000003" "g.70837226G>T" "" "" "" "CXCR3(NM_001142797.1):c.237C>A (p.N79K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71617376G>T" "" "likely benign" ""
"0000274649" "0" "30" "X" "70837395" "70837395" "subst" "0" "01943" "CXCR3_000004" "g.70837395T>A" "" "" "" "CXCR3(NM_001142797.1):c.68A>T (p.K23I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71617545T>A" "" "likely benign" ""
"0000334591" "0" "50" "X" "70823604" "70823633" "del" "0" "01804" "ACRC_000007" "g.70823604_70823633del" "" "" "" "ACRC(NM_052957.4):c.448_477del (p.(Asp151_Asp160del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71603754_71603783del" "" "VUS" ""
"0000334592" "0" "50" "X" "70823751" "70823751" "subst" "8.95897E-5" "01804" "ACRC_000009" "g.70823751C>G" "" "" "" "ACRC(NM_052957.4):c.624C>G (p.(Asn208Lys)), GCNA(NM_052957.4):c.624C>G (p.N208K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71603901C>G" "" "VUS" ""
"0000334594" "0" "50" "X" "70823775" "70823775" "subst" "2.79974E-5" "01804" "ACRC_000011" "g.70823775C>A" "" "" "" "ACRC(NM_052957.4):c.648C>A (p.(Asp216Glu)), GCNA(NM_052957.4):c.648C>A (p.D216E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71603925C>A" "" "VUS" ""
"0000334595" "0" "50" "X" "70824050" "70824050" "subst" "9.50921E-5" "01804" "ACRC_000013" "g.70824050A>G" "" "" "" "ACRC(NM_052957.4):c.923A>G (p.K308R, p.(Lys308Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71604200A>G" "" "VUS" ""
"0000334596" "0" "50" "X" "70824051" "70824051" "subst" "8.95025E-5" "01804" "ACRC_000014" "g.70824051G>C" "" "" "" "ACRC(NM_052957.4):c.924G>C (p.K308N, p.(Lys308Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71604201G>C" "" "VUS" ""
"0000334598" "0" "50" "X" "70837023" "70837023" "subst" "0" "01804" "CXCR3_000002" "g.70837023G>A" "" "" "" "CXCR3(NM_001142797.1):c.440C>T (p.T147M, p.(Thr147Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71617173G>A" "" "VUS" ""
"0000577320" "0" "30" "X" "70793560" "70793560" "subst" "0" "01943" "OGT_000013" "g.70793560C>A" "" "" "" "OGT(NM_181672.3):c.3057C>A (p.L1019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71573710C>A" "" "likely benign" ""
"0000577321" "0" "30" "X" "70800700" "70800700" "subst" "0" "01943" "OGT_000014" "g.70800700G>T" "" "" "" "ACRC(NM_052957.4):c.29G>T (p.R10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71580850G>T" "" "likely benign" ""
"0000577322" "0" "30" "X" "70823488" "70823488" "subst" "6.15819E-5" "01804" "ACRC_000016" "g.70823488A>G" "" "" "" "ACRC(NM_052957.4):c.361A>G (p.(Ile121Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71603638A>G" "" "likely benign" ""
"0000577323" "0" "30" "X" "70823618" "70823618" "subst" "4.47703E-5" "01943" "ACRC_000017" "g.70823618A>G" "" "" "" "ACRC(NM_052957.4):c.491A>G (p.D164G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71603768A>G" "" "likely benign" ""
"0000577326" "0" "30" "X" "70823950" "70823950" "subst" "0" "01804" "ACRC_000018" "g.70823950C>T" "" "" "" "ACRC(NM_052957.4):c.823C>T (p.(Pro275Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71604100C>T" "" "likely benign" ""
"0000577327" "0" "30" "X" "70824050" "70824050" "subst" "9.50921E-5" "01943" "ACRC_000013" "g.70824050A>G" "" "" "" "ACRC(NM_052957.4):c.923A>G (p.K308R, p.(Lys308Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71604200A>G" "" "likely benign" ""
"0000577328" "0" "30" "X" "70824051" "70824051" "subst" "8.95025E-5" "01943" "ACRC_000014" "g.70824051G>C" "" "" "" "ACRC(NM_052957.4):c.924G>C (p.K308N, p.(Lys308Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71604201G>C" "" "likely benign" ""
"0000577331" "0" "30" "X" "70832719" "70832719" "subst" "5.73651E-6" "01943" "ACRC_000021" "g.70832719T>G" "" "" "" "ACRC(NM_052957.4):c.1963T>G (p.C655G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71612869T>G" "" "likely benign" ""
"0000577334" "0" "30" "X" "70837023" "70837023" "subst" "0" "01943" "CXCR3_000002" "g.70837023G>A" "" "" "" "CXCR3(NM_001142797.1):c.440C>T (p.T147M, p.(Thr147Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71617173G>A" "" "likely benign" ""
"0000619857" "0" "30" "X" "70823611" "70823611" "subst" "0" "01943" "ACRC_000025" "g.70823611A>G" "" "" "" "ACRC(NM_052957.4):c.484A>G (p.N162D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71603761A>G" "" "likely benign" ""
"0000619858" "0" "50" "X" "70824010" "70824039" "del" "0" "01804" "ACRC_000026" "g.70824010_70824039del" "" "" "" "ACRC(NM_052957.4):c.824_853del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71604160_71604189del" "" "VUS" ""
"0000619859" "0" "50" "X" "70832812" "70832812" "subst" "2.79908E-5" "01943" "ACRC_000027" "g.70832812C>T" "" "" "" "GCNA(NM_052957.4):c.2056C>T (p.R686C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71612962C>T" "" "VUS" ""
"0000619860" "0" "30" "X" "70836763" "70836763" "subst" "0" "01943" "ACRC_000029" "g.70836763A>T" "" "" "" "CXCR3(NM_001142797.1):c.700T>A (p.F234I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71616913A>T" "" "likely benign" ""
"0000619861" "0" "30" "X" "70837422" "70837422" "subst" "0" "01943" "ACRC_000030" "g.70837422G>A" "" "" "" "CXCR3(NM_001142797.1):c.41C>T (p.T14I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71617572G>A" "" "likely benign" ""
"0000624708" "0" "30" "X" "70836275" "70836275" "subst" "0" "01943" "ACRC_000028" "g.70836275C>T" "" "" "" "CXCR3(NM_001142797.1):c.1188G>A (p.S396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71616425C>T" "" "likely benign" ""
"0000659440" "0" "30" "X" "70823751" "70823751" "subst" "8.95897E-5" "01943" "ACRC_000009" "g.70823751C>G" "" "" "" "ACRC(NM_052957.4):c.624C>G (p.(Asn208Lys)), GCNA(NM_052957.4):c.624C>G (p.N208K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71603901C>G" "" "likely benign" ""
"0000693721" "0" "30" "X" "70823775" "70823775" "subst" "2.79974E-5" "01943" "ACRC_000011" "g.70823775C>A" "" "" "" "ACRC(NM_052957.4):c.648C>A (p.(Asp216Glu)), GCNA(NM_052957.4):c.648C>A (p.D216E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000693722" "0" "50" "X" "70825544" "70825544" "subst" "0" "01943" "ACRC_000031" "g.70825544A>T" "" "" "" "GCNA(NM_052957.4):c.1431A>T (p.K477N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000790710" "0" "90" "X" "70824307" "70824307" "subst" "0" "01351" "ACRC_000032" "g.70824307G>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.71604457G>T" "" "likely pathogenic (dominant)" "ACMG"
"0000790716" "20" "70" "X" "70823780" "70823781" "delins" "0" "01351" "ACRC_000033" "g.70823780_70823781delinsGC" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71603930_71603931delinsGC" "" "likely pathogenic" "ACMG"
"0000810641" "0" "30" "X" "70817887" "70817887" "subst" "0" "01943" "ACRC_000034" "g.70817887C>T" "" "" "" "GCNA(NM_052957.4):c.309C>T (p.D103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810642" "0" "30" "X" "70832329" "70832329" "subst" "0.00013066" "01943" "ACRC_000035" "g.70832329G>A" "" "" "" "GCNA(NM_052957.4):c.1875G>A (p.P625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810643" "0" "50" "X" "70837452" "70837452" "subst" "0" "01943" "ACRC_000036" "g.70837452C>T" "" "" "" "CXCR3(NM_001142797.1):c.11G>A (p.R4K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000810644" "0" "30" "X" "70837457" "70837457" "subst" "0" "01943" "ACRC_000037" "g.70837457C>A" "" "" "" "CXCR3(NM_001142797.1):c.6G>T (p.E2D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000839999" "20" "90" "X" "70828863" "70828863" "del" "0" "00006" "ACRC_000038" "g.70828863del" "" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "" "NM_052957.5:c.1507del" "" "Germline" "" "" "0" "" "" "g.71609013del" "" "pathogenic" ""
"0000856770" "0" "30" "X" "70800708" "70800708" "subst" "1.278E-5" "01943" "OGT_000024" "g.70800708G>A" "" "" "" "GCNA(NM_052957.4):c.37G>A (p.E13K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856771" "0" "30" "X" "70830552" "70830552" "subst" "0" "01943" "ACRC_000040" "g.70830552G>A" "" "" "" "GCNA(NM_052957.4):c.1633G>A (p.G545S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856772" "0" "30" "X" "70836515" "70836515" "subst" "7.34982E-5" "01943" "ACRC_000041" "g.70836515G>T" "" "" "" "CXCR3(NM_001142797.1):c.948C>A (p.T316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000867539" "0" "30" "X" "70823638" "70823638" "subst" "5.59804E-6" "01943" "ACRC_000039" "g.70823638G>A" "" "" "" "GCNA(NM_052957.4):c.511G>A (p.D171N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000984847" "0" "10" "X" "70824234" "70824234" "subst" "0.00165956" "01804" "ACRC_000042" "g.70824234T>C" "" "" "" "GCNA(NM_052957.5):c.1107T>C (p.(Asp369=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000984848" "0" "30" "X" "70832741" "70832741" "subst" "0.0040736" "01804" "ACRC_000043" "g.70832741C>T" "" "" "" "GCNA(NM_052957.5):c.1985C>T (p.(Thr662Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001006944" "0" "30" "X" "70823549" "70823549" "subst" "0" "01804" "ACRC_000044" "g.70823549A>G" "" "" "" "ACRC(NM_052957.4):c.422A>G (p.(Asp141Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001006945" "0" "30" "X" "70824467" "70824467" "subst" "0" "01804" "ACRC_000045" "g.70824467A>G" "" "" "" "ACRC(NM_052957.4):c.1340A>G (p.(Asn447Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001044493" "0" "50" "X" "70836547" "70836547" "subst" "0" "01804" "ACRC_000046" "g.70836547C>T" "" "" "" "CXCR3(NM_001504.2):c.775G>A (p.(Val259Met))" "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 ACRC
## Count = 49
"{{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}}"
"0000003047" "00000827" "50" "1751" "-245" "1751" "-244" "c.1751-245_1751-244del" "r.(=)" "p.(=)" ""
"0000003048" "00000827" "50" "1751" "-46" "1751" "-46" "c.1751-46del" "r.(=)" "p.(=)" ""
"0000007140" "00000827" "50" "2499" "0" "2499" "0" "c.*423T>G" "r.(=)" "p.(=)" ""
"0000254615" "00000827" "30" "1338" "0" "1338" "0" "c.1338A>C" "r.(?)" "p.(Lys446Asn)" ""
"0000254750" "00000827" "30" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Asn101Asp)" ""
"0000261794" "00000827" "30" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Pro189Ser)" ""
"0000261795" "00000827" "30" "718" "0" "718" "0" "c.718G>T" "r.(?)" "p.(Asp240Tyr)" ""
"0000274648" "00000827" "30" "6470" "0" "6470" "0" "c.*4394G>T" "r.(=)" "p.(=)" ""
"0000274649" "00000827" "30" "6639" "0" "6639" "0" "c.*4563T>A" "r.(=)" "p.(=)" ""
"0000334591" "00000827" "50" "477" "0" "506" "0" "c.477_506del" "r.(?)" "p.(Glu177_Ser186del)" ""
"0000334592" "00000827" "50" "624" "0" "624" "0" "c.624C>G" "r.(?)" "p.(Asn208Lys)" ""
"0000334594" "00000827" "50" "648" "0" "648" "0" "c.648C>A" "r.(?)" "p.(Asp216Glu)" ""
"0000334595" "00000827" "50" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Lys308Arg)" ""
"0000334596" "00000827" "50" "924" "0" "924" "0" "c.924G>C" "r.(?)" "p.(Lys308Asn)" ""
"0000334598" "00000827" "50" "6267" "0" "6267" "0" "c.*4191G>A" "r.(=)" "p.(=)" ""
"0000577320" "00000827" "30" "-4815" "0" "-4815" "0" "c.-4815C>A" "r.(?)" "p.(=)" ""
"0000577321" "00000827" "30" "29" "0" "29" "0" "c.29G>T" "r.(?)" "p.(Arg10Leu)" ""
"0000577322" "00000827" "30" "361" "0" "361" "0" "c.361A>G" "r.(?)" "p.(Ile121Val)" ""
"0000577323" "00000827" "30" "491" "0" "491" "0" "c.491A>G" "r.(?)" "p.(Asp164Gly)" ""
"0000577326" "00000827" "30" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Pro275Ser)" ""
"0000577327" "00000827" "30" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Lys308Arg)" ""
"0000577328" "00000827" "30" "924" "0" "924" "0" "c.924G>C" "r.(?)" "p.(Lys308Asn)" ""
"0000577331" "00000827" "30" "1963" "0" "1963" "0" "c.1963T>G" "r.(?)" "p.(Cys655Gly)" ""
"0000577334" "00000827" "30" "6267" "0" "6267" "0" "c.*4191G>A" "r.(=)" "p.(=)" ""
"0000619857" "00000827" "30" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Asn162Asp)" ""
"0000619858" "00000827" "50" "883" "0" "912" "0" "c.883_912del" "r.(?)" "p.(Ser295_Ala304del)" ""
"0000619859" "00000827" "50" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Arg686Cys)" ""
"0000619860" "00000827" "30" "6007" "0" "6007" "0" "c.*3931A>T" "r.(=)" "p.(=)" ""
"0000619861" "00000827" "30" "6666" "0" "6666" "0" "c.*4590G>A" "r.(=)" "p.(=)" ""
"0000624708" "00000827" "30" "5519" "0" "5519" "0" "c.*3443C>T" "r.(=)" "p.(=)" ""
"0000659440" "00000827" "30" "624" "0" "624" "0" "c.624C>G" "r.(?)" "p.(Asn208Lys)" ""
"0000693721" "00000827" "30" "648" "0" "648" "0" "c.648C>A" "r.(?)" "p.(Asp216Glu)" ""
"0000693722" "00000827" "50" "1431" "0" "1431" "0" "c.1431A>T" "r.(?)" "p.(Lys477Asn)" ""
"0000790710" "00000827" "90" "1180" "0" "1180" "0" "c.1180G>T" "r.(?)" "p.(Glu394*)" "8"
"0000790716" "00000827" "70" "653" "0" "654" "0" "c.653_654delinsGC" "r.(?)" "p.(Lys218Ser)" "8"
"0000810641" "00000827" "30" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(Asp103=)" ""
"0000810642" "00000827" "30" "1875" "0" "1875" "0" "c.1875G>A" "r.(?)" "p.(Pro625=)" ""
"0000810643" "00000827" "50" "6696" "0" "6696" "0" "c.*4620C>T" "r.(=)" "p.(=)" ""
"0000810644" "00000827" "30" "6701" "0" "6701" "0" "c.*4625C>A" "r.(=)" "p.(=)" ""
"0000839999" "00000827" "90" "1507" "0" "1507" "0" "c.1507del" "r.(?)" "p.(Glu504Lysfs*11)" ""
"0000856770" "00000827" "30" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Glu13Lys)" ""
"0000856771" "00000827" "30" "1633" "0" "1633" "0" "c.1633G>A" "r.(?)" "p.(Gly545Ser)" ""
"0000856772" "00000827" "30" "5759" "0" "5759" "0" "c.*3683G>T" "r.(=)" "p.(=)" ""
"0000867539" "00000827" "30" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Asp171Asn)" ""
"0000984847" "00000827" "10" "1107" "0" "1107" "0" "c.1107T>C" "r.(?)" "p.(=)" ""
"0000984848" "00000827" "30" "1985" "0" "1985" "0" "c.1985C>T" "r.(?)" "p.(Thr662Ile)" ""
"0001006944" "00000827" "30" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Asp141Gly)" ""
"0001006945" "00000827" "30" "1340" "0" "1340" "0" "c.1340A>G" "r.(?)" "p.(Asn447Ser)" ""
"0001044493" "00000827" "50" "5791" "0" "5791" "0" "c.*3715C>T" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000003047"
"0000000209" "0000003048"
"0000000209" "0000007140"
"0000378041" "0000790710"
"0000378048" "0000790716"
"0000404329" "0000839999"