### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAC2) # 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}}" "RAC2" "ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)" "22" "q13.1" "unknown" "NC_000022.10" "UD_132118320788" "" "https://www.LOVD.nl/RAC2" "" "1" "9802" "5880" "602049" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/RAC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-07-29 11:55:27" "00000" "2024-08-28 13:16:32" ## 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}}" "00025723" "RAC2" "ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)" "001" "NM_002872.4" "" "NP_002863.1" "" "" "" "-151" "1360" "579" "37640339" "37621301" "00006" "2022-07-29 11:54:30" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "02744" "IMD73A" "immunodeficiency, type 73A, with defective neutrophil chemotaxix and leukocytosis" "AD" "608203" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-07-29 11:51:53" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05608" "SCID" "immunodeficiency, severe combined (SCID)" "" "" "" "" "" "00006" "2019-06-06 16:10:12" "" "" "06948" "IMD73B" "immunodeficiency, type 73B, with defective neutrophil chemotaxis and lymphopenia" "AD" "618986" "" "" "" "00006" "2022-07-29 11:52:45" "" "" "06949" "IMD73C" "immunodeficiency, type 73C, with defective neutrophil chemotaxix and leukocytosis" "AR" "618987" "" "" "" "00006" "2022-07-29 11:53:35" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "RAC2" "02744" "RAC2" "06948" "RAC2" "06949" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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" "" "" "" "" "00414602" "" "" "" "2" "" "00006" "{PMID:Alkhairy 2015:25512081}" "2 generation family, affected sister/brother, unaffected heterozygous carrier mother, first-degree consanguineous parents" "F" "yes" "Iran" "" "0" "" "" "" "family" "00414603" "" "" "" "1" "" "00006" "{PMID:Ambruso 2000:10758162}, {PMID:Williams 2000:10961859}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "" "United States" "" "0" "" "" "" "patient" "00414604" "" "" "" "1" "" "00006" "{PMID:Accetta 2011:21167572}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "no" "United States" "" "0" "" "" "" "patient" "00414605" "" "" "" "1" "" "00006" "{PMID:Roos 2021:34547651}" "" "" "" "" "" "0" "" "" "" "patient" "00414606" "" "" "" "1" "" "00006" "{PMID:Hsu 2019:30723080}" "" "F" "" "United States" "" "0" "" "" "" "Pat1" "00414607" "" "" "" "1" "" "00006" "{PMID:Hsu 2019:30723080}" "" "F" "" "United States" "" "0" "" "" "" "Pat2" "00414608" "" "" "" "1" "" "00006" "{PMID:Hsu 2019:30723080}" "" "M" "" "United States" "" "0" "" "" "" "Pat3" "00414609" "" "" "" "3" "" "00006" "{PMID:Roos 2020:31382036}" "3-generation family, affected boy, father, grandfather" "M" "no" "Netherlands" "" "0" "" "" "" "family" "00414610" "" "" "" "1" "" "00006" "{PMID:Sharapova 2019:31071452}" "2 generation family, 1 affected, unaffected non carrier mother" "F" "no" "Ukraine" "" "0" "" "" "" "patient" "00414611" "" "" "" "3" "" "00006" "{PMID:Lougaris 2019:30654050}" "2-generation family, affected father and 2 daugthers" "F;M" "no" "" "" "0" "" "" "" "family" "00414613" "" "" "" "1" "" "00006" "{PMID:Lagresle-Peyrou 2021:31919089}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "" "France" "" "0" "" "" "" "patient" "00414614" "" "" "" "2" "" "00006" "2 generation family, affected mother/daughter" "" "F" "" "France" "" "0" "" "" "" "family" "00414615" "" "" "" "1" "" "00006" "{PMID:Stern 2021:33188496}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00414602" "05292" "00414603" "05292" "00414604" "05292" "00414605" "05292" "00414606" "05292" "00414607" "05292" "00414608" "05292" "00414609" "05292" "00414610" "05292" "00414611" "05292" "00414613" "05292" "00414614" "05292" "00414615" "05608" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 02744, 05292, 05608, 06948, 06949 ## Count = 12 "{{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" "" "" "" "" "" "" "" "0000306401" "05292" "00414602" "00006" "Familial, autosomal recessive" "21y" "see paper; ..., common variable immunodeficiency, glomerulonephritis, coagulopathy, multiple hormone deficiencies, abnormalities neutrophil granules; 21y-died of graft rejection and possible cerebral hemorrhage" "" "" "" "" "" "" "" "IMD73C" "immunodeficiency" "0000306402" "05292" "00414603" "00006" "Isolated (sporadic)" "01y" "see paper; ..., 5w-perirectal abscess, failure umbilical stump to involute; 5m-recurrent perirectal abscesses, infected urachal cyst, failure to heal surgical wounds, absence of pus in infected areas" "" "" "" "" "" "" "" "IMD73A" "immunodeficiency" "0000306403" "05292" "00414606" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "IMD73B" "immunodeficiency" "0000306404" "05292" "00414607" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "IMD73B" "immunodeficiency" "0000306405" "05292" "00414608" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "IMD73B" "immunodeficiency" "0000306406" "05292" "00414609" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "IMD73B" "immunodeficiency" "0000306407" "05292" "00414610" "00006" "Unknown" "10y" "see paper; ..., recurrent respiratory infections, lung disease, susceptibility to varicella and herpetic infections" "" "" "" "" "" "" "" "IMD73B" "immunodeficiency" "0000306408" "05292" "00414611" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "IMD73B" "immunodeficiency" "0000306409" "05292" "00414613" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "IMD73B" "immunodeficiency" "0000306410" "05292" "00414614" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "IMD73B" "immunodeficiency" "0000306411" "05608" "00414615" "00006" "Isolated (sporadic)" "" "see paper; ..., temperature instability, hyperbilirubinemia, agranulocytosis, severe lymphopenia without associated anemia or thrombocytopenia" "" "" "" "" "" "" "" "IMD73B" "severe combined immunodeficiency" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{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" "" "" "0000415883" "00414602" "1" "00006" "00006" "2022-07-29 12:57:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415884" "00414603" "1" "00006" "00006" "2022-07-29 13:08:53" "" "" "SEQ" "DNA" "" "" "0000415885" "00414604" "1" "00006" "00006" "2022-07-29 13:16:17" "" "" "SEQ" "DNA" "" "" "0000415886" "00414605" "1" "00006" "00006" "2022-07-29 13:16:17" "" "" "SEQ" "DNA" "" "" "0000415887" "00414606" "1" "00006" "00006" "2022-07-29 13:24:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415888" "00414607" "1" "00006" "00006" "2022-07-29 13:24:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415889" "00414608" "1" "00006" "00006" "2022-07-29 13:24:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415890" "00414609" "1" "00006" "00006" "2022-07-29 13:24:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415891" "00414610" "1" "00006" "00006" "2022-07-29 13:36:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415892" "00414611" "1" "00006" "00006" "2022-07-29 14:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415894" "00414613" "1" "00006" "00006" "2022-07-29 15:00:13" "" "" "SEQ;SEQ-NG" "DNA" "" "wgs" "0000415895" "00414614" "1" "00006" "00006" "2022-07-29 15:03:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000415896" "00414615" "1" "00006" "00006" "2022-07-29 15:10:23" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000415884" "RAC2" "0000415885" "RAC2" "0000415886" "RAC2" "0000415896" "RAC2" ## 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 = 25 "{{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}}" "0000006087" "0" "50" "22" "37635055" "37635055" "subst" "0" "00037" "RAC2_000001" "g.37635055A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.37239015A>G" "" "VUS" "" "0000571951" "0" "30" "22" "37622785" "37622785" "subst" "0.000179203" "01943" "RAC2_000002" "g.37622785G>A" "" "" "" "RAC2(NM_002872.3):c.507C>T (p.F169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37226745G>A" "" "likely benign" "" "0000571952" "0" "30" "22" "37622791" "37622791" "subst" "0.00171417" "02326" "RAC2_000003" "g.37622791G>A" "" "" "" "RAC2(NM_002872.3):c.501C>T (p.T167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37226751G>A" "" "likely benign" "" "0000571953" "0" "50" "22" "37627372" "37627372" "subst" "4.06237E-6" "01943" "RAC2_000004" "g.37627372T>C" "" "" "" "RAC2(NM_002872.3):c.347A>G (p.K116R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37231332T>C" "" "VUS" "" "0000571954" "0" "50" "22" "37628842" "37628842" "subst" "0" "01943" "RAC2_000005" "g.37628842G>A" "" "" "" "RAC2(NM_002872.3):c.224C>T (p.T75M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37232802G>A" "" "VUS" "" "0000571955" "0" "30" "22" "37640138" "37640138" "subst" "0.00261878" "02326" "RAC2_000006" "g.37640138C>T" "" "" "" "RAC2(NM_002872.3):c.35+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37244098C>T" "" "likely benign" "" "0000658949" "0" "30" "22" "37628910" "37628910" "subst" "1.21885E-5" "01943" "RAC2_000007" "g.37628910G>A" "" "" "" "RAC2(NM_002872.3):c.156C>T (p.N52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37232870G>A" "" "likely benign" "" "0000873788" "3" "90" "22" "37628899" "37628899" "subst" "0" "00006" "RAC2_000008" "g.37628899C>T" "" "{PMID:Alkhairy 2015:25512081}" "" "W56X" "" "Germline" "yes" "" "0" "" "" "g.37232859C>T" "" "pathogenic (recessive)" "" "0000873789" "0" "90" "22" "37628897" "37628897" "subst" "0" "00006" "RAC2_000009" "g.37628897C>T" "" "{PMID:Ambruso 2000:10758162}, {PMID:Williams 2000:10961859}" "" "GAC>AAC" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873790" "0" "90" "22" "37628897" "37628897" "subst" "0" "00006" "RAC2_000009" "g.37628897C>T" "" "{PMID:Accetta 2011:21167572}" "" "GAC>AAC" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873791" "0" "90" "22" "37628897" "37628897" "subst" "0" "00006" "RAC2_000009" "g.37628897C>T" "" "{PMID:Roos 2021:34547651}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873792" "0" "90" "22" "37628882" "37628882" "subst" "0" "00006" "RAC2_000010" "g.37628882C>T" "" "{PMID:Hsu 2019:30723080}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873793" "0" "90" "22" "37628882" "37628882" "subst" "0" "00006" "RAC2_000010" "g.37628882C>T" "" "{PMID:Hsu 2019:30723080}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873794" "0" "90" "22" "37628882" "37628882" "subst" "0" "00006" "RAC2_000010" "g.37628882C>T" "" "{PMID:Hsu 2019:30723080}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873795" "11" "90" "22" "37628882" "37628882" "subst" "0" "00006" "RAC2_000010" "g.37628882C>T" "" "{PMID:Roos 2020:31382036}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873796" "0" "90" "22" "37627985" "37627985" "subst" "0" "00006" "RAC2_000011" "g.37627985T>G" "" "{PMID:Sharapova 2019:31071452}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873797" "11" "90" "22" "37637633" "37637633" "subst" "0" "00006" "RAC2_000012" "g.37637633G>T" "" "{PMID:Lougaris 2019:30654050}" "" "C101A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873798" "0" "90" "22" "37640155" "37640155" "subst" "0" "00006" "RAC2_000013" "g.37640155C>T" "" "{PMID:Lagresle-Peyrou 2021:31919089}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873799" "21" "90" "22" "37640155" "37640155" "subst" "0" "00006" "RAC2_000013" "g.37640155C>T" "" "{PMID:Lagresle-Peyrou 2021:31919089}" "" "" "variant de novo in mother" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873801" "0" "90" "22" "37628884" "37628884" "subst" "0" "00006" "RAC2_000014" "g.37628884T>C" "" "{PMID:Stern 2021:33188496}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000874849" "0" "10" "22" "37622815" "37622815" "subst" "0.162559" "00006" "RAC2_000015" "g.37622815A>G" "" "{PMID:Roos 2021:34547651}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37226775A>G" "" "benign" "" "0000874850" "0" "10" "22" "37628008" "37628008" "subst" "0.00491709" "00006" "RAC2_000016" "g.37628008G>A" "" "{PMID:Roos 2021:34547651}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37231968G>A" "" "benign" "" "0000874851" "0" "10" "22" "37637653" "37637653" "subst" "0.1526" "00006" "RAC2_000017" "g.37637653G>C" "" "{PMID:Roos 2021:34547651}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.37241613G>C" "" "benign" "" "0000915542" "0" "50" "22" "37628869" "37628869" "subst" "0" "02327" "RAC2_000018" "g.37628869C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006058" "0" "30" "22" "37627385" "37627385" "subst" "0" "02325" "RAC2_000019" "g.37627385G>A" "" "" "" "RAC2(NM_002872.5):c.334C>T (p.L112=)" "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 RAC2 ## Count = 25 "{{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}}" "0000006087" "00025723" "50" "107" "2572" "107" "2572" "c.107+2572T>C" "r.(=)" "p.(=)" "" "0000571951" "00025723" "30" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(Phe169=)" "" "0000571952" "00025723" "30" "501" "0" "501" "0" "c.501C>T" "r.(?)" "p.(Thr167=)" "" "0000571953" "00025723" "50" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(Lys116Arg)" "" "0000571954" "00025723" "50" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Thr75Met)" "" "0000571955" "00025723" "30" "35" "16" "35" "16" "c.35+16G>A" "r.(=)" "p.(=)" "" "0000658949" "00025723" "30" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Asn52=)" "" "0000873788" "00025723" "90" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Trp56*)" "" "0000873789" "00025723" "90" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Asp57Asn)" "" "0000873790" "00025723" "90" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Asp57Asn)" "" "0000873791" "00025723" "90" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Asp57Asn)" "" "0000873792" "00025723" "90" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0000873793" "00025723" "90" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0000873794" "00025723" "90" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0000873795" "00025723" "90" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0000873796" "00025723" "90" "275" "0" "275" "0" "c.275A>C" "r.(?)" "p.(Asn92Thr)" "" "0000873797" "00025723" "90" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Pro34His)" "" "0000873798" "00025723" "90" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Arg)" "" "0000873799" "00025723" "90" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Arg)" "" "0000873801" "00025723" "90" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Gln61Arg)" "" "0000874849" "00025723" "10" "477" "0" "477" "0" "c.477T>C" "r.(=)" "p.(Ala159=)" "" "0000874850" "00025723" "10" "252" "0" "252" "0" "c.252C>T" "r.(=)" "p.(Leu84=)" "" "0000874851" "00025723" "10" "81" "0" "81" "0" "c.81C>G" "r.(=)" "p.(Ala27=)" "" "0000915542" "00025723" "50" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Arg66His)" "" "0001006058" "00025723" "30" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006087" "0000415883" "0000873788" "0000415884" "0000873789" "0000415885" "0000873790" "0000415886" "0000873791" "0000415887" "0000873792" "0000415888" "0000873793" "0000415889" "0000873794" "0000415890" "0000873795" "0000415891" "0000873796" "0000415892" "0000873797" "0000415894" "0000873798" "0000415895" "0000873799" "0000415896" "0000873801"