### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C3) # 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}}" "C3" "complement component 3" "19" "p13.3-p13.2" "unknown" "LRG_27" "UD_132085417726" "" "https://www.LOVD.nl/C3" "" "1" "1318" "718" "120700" "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/C3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-19 11:32:34" "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}}" "00003702" "C3" "complement component 3" "001" "NM_000064.2" "" "NP_000055.2" "" "" "" "-62" "5039" "4992" "6720662" "6677846" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "03023" "ARMD9" "macular degeneration, age-related, type 9" "" "611378" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-07 11:59:00" "03207" "AHUS5" "hemolyticuremic syndrome, atypical, susceptibility type 5 (AHUS5)" "AD" "612925" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-07 11:58:28" "03429" "C3D" "complement component 3 deficiency, autosomal recessive (C3D)" "AR" "613779" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "C3" "03023" "C3" "03207" "C3" "03429" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00334395" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00361799" "" "" "" "1" "" "03256" "{DOI:Ghannam 2014:10.1016/j.molimm.2013.11.010}" "" "M" "no" "France" "" "0" "" "" "" "" "00361800" "" "" "" "1" "" "03256" "{DOI:Kida 2008:10.1016/j.bcmd.2007.11.002}" "" "" "no" "Japan" "" "0" "" "" "" "" "00361801" "" "" "" "1" "" "03256" "{DOI:Okura 2011:10.1111/j.1442-200X.2010.03259.x}" "" "" "" "Japan" "" "0" "" "" "" "" "00362255" "" "" "" "2" "" "03256" "{PMID:Jimenez-Reinoso 2018:29113906}, {DOI:Jimenez-Reinoso 2018:10.1016/j.jaci.2017.09.037}" "" "" "" "Spain" "" "0" "" "" "Pakistan" "C3.1.II:1" "00362256" "" "" "" "1" "" "03256" "" "" "F" "" "Sweden" "" "0" "" "" "" "" "00362257" "" "" "" "1" "" "03256" "" "" "M" "" "Turkey" "" "0" "" "" "" "" "00362258" "" "" "" "1" "" "03256" "" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00398562" "" "" "" "1" "" "03256" "{PMID:Tsukumura 2005:15781264}, {DOI:Tsukamoto 2005:10.1016/j.bbrc.2005.02.159}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Japan" "" "0" "" "" "" "FamPatIV3" "00398563" "" "" "" "1" "" "03256" "{DOI:Alper 1972:10.1016/s0140-6736(72)92598-6}, {PMID:Botto 1992:1350678}, {DOI:Botto 1992:10.1073/pnas.89.11.4957}" "2-generation family, affected mother, unaffected heterozygous carrier children" "F" "yes" "South Africa" "" "0" "" "" "" "patient" "00398624" "" "" "" "2" "" "00006" "{PMID:Botto 1992:1350678}, {DOI:Botto 1992:10.1073/pnas.89.11.4957}" "analysis 174 Afrikaans speaking controls" "" "" "South Africa" "" "0" "" "" "" "control" "00398633" "" "" "" "2" "" "03256" "{PMID:Ghannam 2008:18802120},{DOI:Ghannam 2008:10.4049/jimmunol.181.7.5158}" "2-generation family, affected twin brothers, unaffected carrier parents" "M" "no" "France" "" "0" "" "" "" "FamPatII3" "00398650" "" "" "" "1" "" "03256" "{PMID:Botto 1990:2212005}," "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00420782" "" "" "" "1" "" "03256" "{PMID:Mohlin 2018:30131807}, {DOI:Mohlin 2018:10.3389/fimmu.2018.01813}" "" "F" "" "(Sweden)" "" "0" "" "" "" "" "00421406" "" "" "" "1" "" "03256" "{DOI:Mohlin 2018:10.3389/fimmu.2018.01813} {PMID:Mohlin 2018:30131807}" "" "F" "" "(Sweden)" "" "0" "" "" "" "" "00421407" "" "" "" "1" "" "03256" "{DOI:Mohlin 2018: 10.3389/fimmu.2018.01813} {PMID:Mohlin 2018:30131807}" "" "" "" "(Sweden)" "" "0" "" "" "" "" "00421408" "" "" "" "1" "" "03256" "{DOI:Mohlin 2018: 10.3389/fimmu.2018.01813} {PMID:Mohlin 2018:30131807}" "" "" "" "(Sweden)" "" "0" "" "" "" "" "00421409" "" "" "" "1" "" "03256" "{DOI:Mohlin 2018: 10.3389/fimmu.2018.01813} {PMID:Mohlin 2018:30131807}" "" "F" "" "(Sweden)" "" "0" "" "" "" "" "00453287" "" "" "" "2" "" "03256" "{DOI:Bernacchia 2024:10.3389/fped.2024.1424380}" "" "" "no" "Argentina" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00334395" "05793" "00361799" "03429" "00361800" "03429" "00361801" "03429" "00362255" "03429" "00362256" "03429" "00362257" "03429" "00362258" "03429" "00398562" "03429" "00398563" "03429" "00398624" "00000" "00398633" "03429" "00398650" "03429" "00420782" "03429" "00421406" "03429" "00421407" "03429" "00421408" "03429" "00421409" "03429" "00453287" "03429" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 03023, 03207, 03429, 05793 ## Count = 17 "{{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}}" "0000253178" "05793" "00334395" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "0000257194" "03429" "00361799" "03256" "Familial" "" "Recurrent pyogenic infections" "" "" "" "" "" "" "" "" "" "0000257195" "03429" "00361800" "03256" "Familial" "" "Meningitis, bronchitis, and pneumonia" "" "" "" "" "" "" "" "" "" "0000257196" "03429" "00361801" "03256" "Familial" "" "Severe and recurrent Streptococcus pneumoniae infections: pneumoniae, acute otitis, gastroenterocolitis" "" "" "" "" "" "" "" "" "" "0000257669" "03429" "00362255" "03256" "Familial" "" "Proband presenting with purpura and membranoproliferative glomerulonephritis" "" "" "" "" "" "" "" "" "" "0000257670" "03429" "00362256" "03256" "Familial" "" "Proband presenting with a lupus erythematosus (SLE)–like syndrome" "" "" "" "" "" "" "" "" "" "0000257671" "03429" "00362257" "03256" "Familial" "" "Recurrent airway infections caused by S. pneumoniae and bronchiectasis" "" "" "" "" "" "" "" "" "" "0000257672" "03429" "00362258" "03256" "Familial" "" "Proband presenting with recurrent airway infections caused by S. pneumoniae and bronchiectasis" "" "" "" "" "" "" "" "" "" "0000291682" "03429" "00398563" "03256" "Familial" "" "Female proband presenting with recurrent meningococcal meningitis and pneumonia" "06y" "24y" "" "" "" "" "" "" "" "0000291719" "03429" "00398633" "03256" "Familial, autosomal recessive" "" "Proband presenting with a C3 deficient phenotype with recurrent pyogenic neonatal and paediatric infections, with impairments in dendritic cell differentiation, memory B cells, and regulatory T cells" "" "" "" "" "" "" "" "12mo" "10d" "0000291733" "03429" "00398650" "03256" "Familial" "" "Homozygous proband presenting with recurrent attacks of otitis media, one febrile convulsion during the first 3 yr of life and upper respiratory tract infection by a group A beta-hemolytic Streptococcus." "" "" "" "" "" "" "" "" "" "0000312029" "03429" "00420782" "03256" "Familial" "" "Proband presenting with recurrent spontaneous pregnancy loss" "" "" "" "" "" "" "" "" "" "0000312645" "03429" "00421406" "03256" "Familial" "" "Proband suffering from recurrent spontaneous pregnancy loss" "" "" "" "" "" "" "" "" "" "0000312646" "03429" "00421407" "03256" "Familial" "" "" "" "" "" "" "" "" "" "" "" "0000312647" "03429" "00421408" "03256" "Familial" "" "" "" "" "" "" "" "" "" "" "" "0000312648" "03429" "00421409" "03256" "Familial" "" "" "" "" "" "" "" "" "" "" "" "0000341950" "03429" "00453287" "03256" "Familial, autosomal recessive" "" "Proband presenting with a history of recurrent infections since early childhood and one of them developed hemolytic uremic syndrome" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000335624" "00334395" "1" "04011" "04011" "2021-02-28 12:10:25" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000363027" "00361799" "1" "03256" "03256" "2021-04-10 15:50:55" "" "" "SEQ" "DNA" "blood" "" "0000363028" "00361800" "1" "03256" "03256" "2021-04-10 16:32:05" "" "" "SEQ" "DNA" "blood" "" "0000363029" "00361801" "1" "03256" "03256" "2021-04-10 16:56:47" "" "" "SEQ" "DNA" "blood" "" "0000363484" "00362255" "1" "03256" "03256" "2021-04-17 14:58:06" "" "" "SEQ" "DNA" "" "" "0000363485" "00362256" "1" "03256" "03256" "2021-04-17 15:17:14" "" "" "SEQ" "DNA" "" "" "0000363486" "00362257" "1" "03256" "03256" "2021-04-17 15:32:13" "" "" "SEQ" "DNA" "" "" "0000363487" "00362258" "1" "03256" "03256" "2021-04-17 15:50:14" "" "" "SEQ" "DNA" "" "" "0000399808" "00398562" "1" "03256" "03256" "2022-01-06 18:19:07" "00006" "2022-01-07 12:48:00" "RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000399809" "00398563" "1" "03256" "03256" "2022-01-06 18:46:11" "" "" "SEQ" "DNA" "blood" "" "0000399869" "00398624" "1" "00006" "00006" "2022-01-07 13:06:05" "" "" "PCRdd" "DNA" "" "" "0000399878" "00398633" "1" "03256" "03256" "2022-01-07 17:27:11" "00006" "2022-11-30 10:23:04" "RT-PCR;SEQ" "DNA;RNA" "cultured monocytes" "" "0000399891" "00398650" "1" "03256" "03256" "2022-01-08 16:13:14" "00006" "2022-11-30 10:36:33" "RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000422093" "00420782" "1" "03256" "03256" "2022-11-02 17:52:37" "" "" "SEQ" "DNA" "" "" "0000422717" "00421406" "1" "03256" "03256" "2022-11-04 18:30:16" "" "" "SEQ" "DNA" "blood" "" "0000422718" "00421407" "1" "03256" "03256" "2022-11-04 18:39:21" "" "" "SEQ" "DNA" "blood" "" "0000422719" "00421408" "1" "03256" "03256" "2022-11-04 18:51:47" "" "" "SEQ" "DNA" "blood" "" "0000422720" "00421409" "1" "03256" "03256" "2022-11-04 19:02:51" "" "" "SEQ" "DNA" "blood" "" "0000454898" "00453287" "1" "03256" "03256" "2024-08-17 10:25:05" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000363027" "C3" "0000363028" "C3" "0000363029" "C3" "0000363484" "C3" "0000363485" "C3" "0000363486" "C3" "0000363487" "C3" "0000399808" "C3" "0000399809" "C3" "0000399869" "C3" "0000399878" "C3" "0000399891" "C3" "0000422093" "C3" "0000422717" "C3" "0000422718" "C3" "0000422719" "C3" "0000422720" "C3" "0000454898" "C3" ## 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 = 282 "{{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}}" "0000248716" "0" "10" "19" "6697406" "6697406" "subst" "0.795999" "02325" "C3_000013" "g.6697406A>G" "" "" "" "C3(NM_000064.4):c.2745T>C (p.A915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6697395A>G" "" "benign" "" "0000254708" "0" "30" "19" "6720575" "6720575" "subst" "0.000371769" "01943" "C3_000026" "g.6720575A>G" "" "" "" "C3(NM_000064.2):c.26T>C (p.L9P), C3(NM_000064.4):c.26T>C (p.(Leu9Pro), p.L9P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6720564A>G" "" "likely benign" "" "0000266362" "0" "10" "19" "6702598" "6702598" "subst" "0.795832" "02325" "C3_000017" "g.6702598G>A" "" "" "" "C3(NM_000064.4):c.2246-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6702587G>A" "" "benign" "" "0000266363" "0" "10" "19" "6702157" "6702157" "subst" "0.672331" "02325" "C3_000015" "g.6702157C>G" "" "" "" "C3(NM_000064.4):c.2421G>C (p.V807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6702146C>G" "" "benign" "" "0000266364" "0" "10" "19" "6696597" "6696597" "subst" "0.672251" "02325" "C3_000012" "g.6696597G>A" "" "" "" "C3(NM_000064.4):c.2863+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6696586G>A" "" "benign" "" "0000266365" "0" "10" "19" "6679511" "6679511" "subst" "0.522125" "02325" "C3_000005" "g.6679511C>T" "" "" "" "C3(NM_000064.4):c.4457-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6679500C>T" "" "benign" "" "0000266366" "0" "10" "19" "6677989" "6677989" "subst" "0.524127" "02325" "C3_000001" "g.6677989G>A" "" "" "" "C3(NM_000064.4):c.4896C>T (p.P1632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6677978G>A" "" "benign" "" "0000269432" "0" "10" "19" "6712504" "6712504" "subst" "0.00133607" "02326" "C3_000021" "g.6712504C>T" "" "" "" "C3(NM_000064.2):c.1119+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6712493C>T" "" "benign" "" "0000269433" "0" "30" "19" "6710659" "6710659" "subst" "2.86446E-5" "02326" "C3_000020" "g.6710659G>A" "" "" "" "C3(NM_000064.2):c.1677C>T (p.C559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6710648G>A" "" "likely benign" "" "0000269434" "0" "10" "19" "6710602" "6710603" "del" "0" "02326" "C3_000019" "g.6710602_6710603del" "" "" "" "C3(NM_000064.2):c.1686+64_1686+65delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6710591_6710592del" "" "benign" "" "0000269435" "0" "10" "19" "6702022" "6702022" "subst" "0" "02326" "C3_000014" "g.6702022G>T" "" "" "" "C3(NM_000064.2):c.2440+116C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6702011G>T" "" "benign" "" "0000269436" "0" "30" "19" "6696439" "6696439" "subst" "0.00215614" "02326" "C3_000011" "g.6696439G>A" "" "" "" "C3(NM_000064.2):c.2901C>T (p.L967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6696428G>A" "" "likely benign" "" "0000269437" "0" "10" "19" "6693437" "6693437" "subst" "0.00177879" "02326" "C3_000010" "g.6693437C>A" "" "" "" "C3(NM_000064.2):c.3216G>T (p.R1072=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6693426C>A" "" "benign" "" "0000269438" "0" "10" "19" "6682115" "6682115" "subst" "0.00268889" "02326" "C3_000007" "g.6682115C>A" "" "" "" "C3(NM_000064.2):c.4260+38G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6682104C>A" "" "benign" "" "0000269439" "0" "30" "19" "6714321" "6714321" "subst" "8.12625E-6" "02326" "C3_000024" "g.6714321G>A" "" "" "" "C3(NM_000064.2):c.599+42C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6714310G>A" "" "likely benign" "" "0000269440" "0" "10" "19" "6714035" "6714035" "subst" "0.0110173" "02326" "C3_000022" "g.6714035G>A" "" "" "" "C3(NM_000064.2):c.741C>T (p.N247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6714024G>A" "" "benign" "" "0000272298" "0" "50" "19" "6707877" "6707877" "subst" "0.000239828" "01943" "C3_000018" "g.6707877C>G" "" "" "" "C3(NM_000064.2):c.1909G>C (p.G637R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6707866C>G" "" "VUS" "" "0000272299" "0" "30" "19" "6702184" "6702184" "subst" "0.000632731" "01943" "C3_000016" "g.6702184G>A" "" "" "" "C3(NM_000064.2):c.2394C>T (p.S798=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6702173G>A" "" "likely benign" "" "0000272300" "0" "10" "19" "6686274" "6686274" "subst" "0.00137653" "01943" "C3_000009" "g.6686274C>T" "" "" "" "C3(NM_000064.2):c.3671G>A (p.G1224D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6686263C>T" "" "benign" "" "0000272301" "0" "30" "19" "6684594" "6684594" "subst" "4.06055E-6" "01943" "C3_000008" "g.6684594G>A" "" "" "" "C3(NM_000064.2):c.4097C>T (p.T1366I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6684583G>A" "" "likely benign" "" "0000272302" "0" "10" "19" "6679512" "6679512" "subst" "0.0022419" "01943" "C3_000006" "g.6679512G>A" "" "" "" "C3(NM_000064.2):c.4457-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6679501G>A" "" "benign" "" "0000272303" "0" "30" "19" "6678475" "6678475" "subst" "0.000605931" "01943" "C3_000004" "g.6678475G>A" "" "" "" "C3(NM_000064.2):c.4631-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6678464G>A" "" "likely benign" "" "0000272304" "0" "30" "19" "6718146" "6718146" "subst" "0.00281011" "01943" "C3_000025" "g.6718146T>G" "" "" "" "C3(NM_000064.2):c.463A>C (p.K155Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6718135T>G" "" "likely benign" "" "0000272305" "0" "30" "19" "6678189" "6678189" "subst" "0.000207103" "01943" "C3_000003" "g.6678189G>A" "" "" "" "C3(NM_000064.2):c.4824C>T (p.S1608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6678178G>A" "" "likely benign" "" "0000272306" "0" "30" "19" "6678030" "6678030" "subst" "0.00119388" "01943" "C3_000002" "g.6678030T>G" "" "" "" "C3(NM_000064.2):c.4855A>C (p.S1619R, p.(Ser1619Arg)), C3(NM_000064.4):c.4855A>C (p.S1619R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6678019T>G" "" "likely benign" "" "0000272307" "0" "50" "19" "6714079" "6714079" "subst" "2.03057E-5" "01943" "C3_000023" "g.6714079C>T" "" "" "" "C3(NM_000064.2):c.697G>A (p.E233K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6714068C>T" "" "VUS" "" "0000338598" "0" "10" "19" "6679511" "6679511" "subst" "0.522125" "02327" "C3_000005" "g.6679511C>T" "" "" "" "C3(NM_000064.4):c.4457-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6679500C>T" "" "benign" "" "0000338599" "0" "10" "19" "6690744" "6690744" "subst" "0.112732" "02327" "C3_000032" "g.6690744A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6690733A>G" "" "benign" "" "0000338600" "0" "10" "19" "6690746" "6690746" "subst" "0.112573" "02327" "C3_000033" "g.6690746A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6690735A>G" "" "benign" "" "0000338601" "0" "10" "19" "6696496" "6696496" "subst" "0.796068" "02327" "C3_000034" "g.6696496T>C" "" "" "" "C3(NM_000064.4):c.2864-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6696485T>C" "" "benign" "" "0000338602" "0" "10" "19" "6696597" "6696597" "subst" "0.672251" "02327" "C3_000012" "g.6696597G>A" "" "" "" "C3(NM_000064.4):c.2863+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6696586G>A" "" "benign" "" "0000338603" "0" "10" "19" "6702598" "6702598" "subst" "0.795832" "02327" "C3_000017" "g.6702598G>A" "" "" "" "C3(NM_000064.4):c.2246-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6702587G>A" "" "benign" "" "0000338604" "0" "30" "19" "6712509" "6712509" "subst" "3.65497E-5" "02327" "C3_000041" "g.6712509C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6712498C>T" "" "likely benign" "" "0000340625" "0" "10" "19" "6681991" "6681991" "subst" "0.0843458" "02327" "C3_000030" "g.6681991G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6681980G>A" "" "benign" "" "0000340668" "0" "10" "19" "6697406" "6697406" "subst" "0.795999" "02327" "C3_000013" "g.6697406A>G" "" "" "" "C3(NM_000064.4):c.2745T>C (p.A915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6697395A>G" "" "benign" "" "0000340681" "0" "10" "19" "6713291" "6713291" "subst" "0.191465" "02327" "C3_000043" "g.6713291C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6713280C>T" "" "benign" "" "0000340867" "0" "30" "19" "6696439" "6696439" "subst" "0.00215614" "02327" "C3_000011" "g.6696439G>A" "" "" "" "C3(NM_000064.2):c.2901C>T (p.L967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6696428G>A" "" "likely benign" "" "0000340896" "0" "10" "19" "6677989" "6677989" "subst" "0.524127" "02327" "C3_000001" "g.6677989G>A" "" "" "" "C3(NM_000064.4):c.4896C>T (p.P1632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6677978G>A" "" "benign" "" "0000340924" "0" "10" "19" "6710782" "6710782" "subst" "0.126604" "02327" "C3_000039" "g.6710782G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6710771G>T" "" "benign" "" "0000340977" "0" "10" "19" "6702148" "6702148" "subst" "0.0123264" "02327" "C3_000036" "g.6702148C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6702137C>T" "" "benign" "" "0000341019" "0" "10" "19" "6709704" "6709704" "subst" "0.171373" "02327" "C3_000037" "g.6709704C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6709693C>T" "" "benign" "" "0000341030" "0" "10" "19" "6697436" "6697436" "subst" "0.0120033" "02327" "C3_000035" "g.6697436G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6697425G>A" "" "benign" "" "0000341062" "0" "10" "19" "6709848" "6709848" "subst" "0.351432" "02327" "C3_000038" "g.6709848C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6709837C>T" "" "benign" "" "0000341065" "0" "10" "19" "6702157" "6702157" "subst" "0.672331" "02327" "C3_000015" "g.6702157C>G" "" "" "" "C3(NM_000064.4):c.2421G>C (p.V807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6702146C>G" "" "benign" "" "0000341670" "0" "10" "19" "6718387" "6718387" "subst" "0.151468" "02327" "C3_000048" "g.6718387G>C" "" "" "" "C3(NM_000064.2):c.304C>G (p.R102G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6718376G>C" "" "benign" "" "0000342025" "0" "90" "19" "6718128" "6718128" "subst" "4.06091E-6" "02327" "C3_000047" "g.6718128G>A" "" "" "" "C3(NM_000064.2):c.481C>T (p.R161W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6718117G>A" "" "pathogenic" "" "0000345439" "0" "30" "19" "6711070" "6711070" "subst" "0.00322819" "02327" "C3_000040" "g.6711070C>G" "" "" "" "C3(NM_000064.2):c.1407G>C (p.E469D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6711059C>G" "" "likely benign" "" "0000345668" "0" "30" "19" "6686274" "6686274" "subst" "0.00137653" "02327" "C3_000009" "g.6686274C>T" "" "" "" "C3(NM_000064.2):c.3671G>A (p.G1224D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6686263C>T" "" "likely benign" "" "0000347356" "0" "50" "19" "6720575" "6720575" "subst" "0.000371769" "02327" "C3_000026" "g.6720575A>G" "" "" "" "C3(NM_000064.2):c.26T>C (p.L9P), C3(NM_000064.4):c.26T>C (p.(Leu9Pro), p.L9P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6720564A>G" "" "VUS" "" "0000348350" "0" "50" "19" "6713419" "6713419" "subst" "0" "02327" "C3_000044" "g.6713419G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6713408G>T" "" "VUS" "" "0000348373" "0" "10" "19" "6713262" "6713262" "subst" "0.142323" "02327" "C3_000042" "g.6713262G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6713251G>A" "" "benign" "" "0000350008" "0" "30" "19" "6713511" "6713511" "subst" "0.00302786" "02327" "C3_000045" "g.6713511G>A" "" "" "" "C3(NM_000064.2):c.783C>T (p.Y261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6713500G>A" "" "likely benign" "" "0000350336" "0" "70" "19" "6677912" "6677912" "subst" "0" "02327" "C3_000028" "g.6677912A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6677901A>G" "" "likely pathogenic" "" "0000351335" "0" "10" "19" "6690742" "6690742" "subst" "0.112712" "02327" "C3_000031" "g.6690742A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6690731A>G" "" "benign" "" "0000568644" "0" "50" "19" "6677979" "6677979" "subst" "4.06068E-6" "01943" "C3_000050" "g.6677979C>G" "" "" "" "C3(NM_000064.2):c.4906G>C (p.E1636Q), C3(NM_000064.4):c.4906G>C (p.E1636Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6677968C>G" "" "VUS" "" "0000568645" "0" "50" "19" "6678030" "6678030" "subst" "0.00119388" "02327" "C3_000002" "g.6678030T>G" "" "" "" "C3(NM_000064.2):c.4855A>C (p.S1619R, p.(Ser1619Arg)), C3(NM_000064.4):c.4855A>C (p.S1619R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6678019T>G" "" "VUS" "" "0000568646" "0" "50" "19" "6678160" "6678160" "subst" "0.000280244" "02327" "C3_000051" "g.6678160C>T" "" "" "" "C3(NM_000064.2):c.4850+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6678149C>T" "" "VUS" "" "0000568648" "0" "30" "19" "6678462" "6678462" "subst" "0.000607469" "01943" "C3_000053" "g.6678462G>A" "" "" "" "C3(NM_000064.2):c.4635C>T (p.Y1545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6678451G>A" "" "likely benign" "" "0000568649" "0" "30" "19" "6679444" "6679444" "subst" "4.46679E-5" "02326" "C3_000054" "g.6679444C>T" "" "" "" "C3(NM_000064.2):c.4520G>A (p.R1507H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6679433C>T" "" "likely benign" "" "0000568650" "0" "30" "19" "6681946" "6681946" "subst" "4.06065E-6" "01943" "C3_000055" "g.6681946C>G" "" "" "" "C3(NM_000064.2):c.4350+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6681935C>G" "" "likely benign" "" "0000568651" "0" "30" "19" "6684457" "6684457" "subst" "0" "02326" "C3_000056" "g.6684457A>G" "" "" "" "C3(NM_000064.2):c.4121-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6684446A>G" "" "likely benign" "" "0000568652" "0" "50" "19" "6684583" "6684583" "subst" "0" "02327" "C3_000057" "g.6684583C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6684572C>T" "" "VUS" "" "0000568653" "0" "30" "19" "6685113" "6685113" "subst" "0.000235713" "01943" "C3_000058" "g.6685113G>A" "" "" "" "C3(NM_000064.2):c.3855C>T (p.D1285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6685102G>A" "" "likely benign" "" "0000568654" "0" "10" "19" "6686192" "6686192" "subst" "0.00540058" "02327" "C3_000059" "g.6686192G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6686181G>T" "" "benign" "" "0000568655" "0" "50" "19" "6690697" "6690697" "subst" "4.06065E-6" "02327" "C3_000060" "g.6690697C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6690686C>T" "" "VUS" "" "0000568656" "0" "30" "19" "6692968" "6692968" "subst" "1.62629E-5" "01943" "C3_000061" "g.6692968C>T" "" "" "" "C3(NM_000064.2):c.3357G>A (p.Q1119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6692957C>T" "" "likely benign" "" "0000568657" "0" "30" "19" "6693437" "6693437" "subst" "0.00177879" "01943" "C3_000010" "g.6693437C>A" "" "" "" "C3(NM_000064.2):c.3216G>T (p.R1072=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6693426C>A" "" "likely benign" "" "0000568658" "0" "30" "19" "6693437" "6693437" "subst" "0.00177879" "02327" "C3_000010" "g.6693437C>A" "" "" "" "C3(NM_000064.2):c.3216G>T (p.R1072=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6693426C>A" "" "likely benign" "" "0000568659" "0" "30" "19" "6696439" "6696439" "subst" "0.00215614" "01943" "C3_000011" "g.6696439G>A" "" "" "" "C3(NM_000064.2):c.2901C>T (p.L967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6696428G>A" "" "likely benign" "" "0000568660" "0" "10" "19" "6696496" "6696496" "subst" "0.796068" "02325" "C3_000034" "g.6696496T>C" "" "" "" "C3(NM_000064.4):c.2864-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6696485T>C" "" "benign" "" "0000568661" "0" "30" "19" "6702242" "6702242" "subst" "0.0074732" "02327" "C3_000062" "g.6702242G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6702231G>T" "" "likely benign" "" "0000568662" "0" "70" "19" "6702546" "6702546" "subst" "4.06062E-6" "01943" "C3_000063" "g.6702546G>A" "" "" "" "C3(NM_000064.2):c.2290C>T (p.R764*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6702535G>A" "" "likely pathogenic" "" "0000568663" "0" "30" "19" "6707129" "6707129" "subst" "0.00213976" "01943" "C3_000064" "g.6707129G>A" "" "" "" "C3(NM_000064.2):c.2203C>T (p.R735W), C3(NM_000064.4):c.2203C>T (p.R735W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6707118G>A" "" "likely benign" "" "0000568664" "0" "30" "19" "6707129" "6707129" "subst" "0.00213976" "02327" "C3_000064" "g.6707129G>A" "" "" "" "C3(NM_000064.2):c.2203C>T (p.R735W), C3(NM_000064.4):c.2203C>T (p.R735W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6707118G>A" "" "likely benign" "" "0000568665" "0" "30" "19" "6707175" "6707175" "subst" "0.00010591" "02326" "C3_000065" "g.6707175C>T" "" "" "" "C3(NM_000064.2):c.2157G>A (p.A719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6707164C>T" "" "likely benign" "" "0000568666" "0" "30" "19" "6707265" "6707265" "subst" "0.00105486" "01943" "C3_000066" "g.6707265C>T" "" "" "" "C3(NM_000064.2):c.2067G>A (p.E689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6707254C>T" "" "likely benign" "" "0000568667" "0" "30" "19" "6707265" "6707265" "subst" "0.00105486" "02327" "C3_000066" "g.6707265C>T" "" "" "" "C3(NM_000064.2):c.2067G>A (p.E689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6707254C>T" "" "likely benign" "" "0000568668" "0" "30" "19" "6707567" "6707567" "subst" "0.00142818" "02327" "C3_000067" "g.6707567G>A" "" "" "" "C3(NM_000064.2):c.1976-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6707556G>A" "" "likely benign" "" "0000568669" "0" "30" "19" "6707878" "6707878" "subst" "1.21922E-5" "01943" "C3_000068" "g.6707878G>A" "" "" "" "C3(NM_000064.2):c.1908C>T (p.A636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6707867G>A" "" "likely benign" "" "0000568670" "0" "30" "19" "6710683" "6710683" "subst" "0.00142268" "02327" "C3_000069" "g.6710683C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6710672C>A" "" "likely benign" "" "0000568671" "0" "30" "19" "6710778" "6710778" "subst" "0" "01943" "C3_000070" "g.6710778A>G" "" "" "" "C3(NM_000064.2):c.1558T>C (p.S520P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6710767A>G" "" "likely benign" "" "0000568672" "0" "50" "19" "6711025" "6711025" "subst" "0.00026802" "02327" "C3_000071" "g.6711025C>T" "" "" "" "C3(NM_000064.2):c.1452G>A (p.E484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6711014C>T" "" "VUS" "" "0000568673" "0" "30" "19" "6711125" "6711125" "subst" "1.21842E-5" "01943" "C3_000072" "g.6711125T>C" "" "" "" "C3(NM_000064.2):c.1352A>G (p.N451S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6711114T>C" "" "likely benign" "" "0000568674" "0" "50" "19" "6712316" "6712316" "subst" "8.12401E-6" "02327" "C3_000073" "g.6712316G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6712305G>A" "" "VUS" "" "0000568675" "0" "90" "19" "6713260" "6713260" "subst" "0" "02327" "C3_000074" "g.6713260G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6713249G>A" "" "pathogenic" "" "0000568676" "0" "30" "19" "6713399" "6713399" "subst" "0.000694811" "02327" "C3_000075" "g.6713399C>T" "" "" "" "C3(NM_000064.2):c.876+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6713388C>T" "" "likely benign" "" "0000568677" "0" "10" "19" "6714035" "6714035" "subst" "0.0110173" "02327" "C3_000022" "g.6714035G>A" "" "" "" "C3(NM_000064.2):c.741C>T (p.N247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6714024G>A" "" "benign" "" "0000568678" "0" "30" "19" "6714271" "6714271" "subst" "0.000203087" "02327" "C3_000076" "g.6714271G>A" "" "" "" "C3(NM_000064.2):c.600-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6714260G>A" "" "likely benign" "" "0000568679" "0" "30" "19" "6714273" "6714273" "subst" "0.00534529" "02327" "C3_000077" "g.6714273G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6714262G>A" "" "likely benign" "" "0000568680" "0" "30" "19" "6714374" "6714374" "subst" "0.00659167" "02327" "C3_000078" "g.6714374C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6714363C>T" "" "likely benign" "" "0000568681" "0" "30" "19" "6714400" "6714400" "subst" "5.68546E-5" "01943" "C3_000079" "g.6714400C>T" "" "" "" "C3(NM_000064.2):c.562G>A (p.V188I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6714389C>T" "" "likely benign" "" "0000568682" "0" "50" "19" "6718146" "6718146" "subst" "0.00281011" "02327" "C3_000025" "g.6718146T>G" "" "" "" "C3(NM_000064.2):c.463A>C (p.K155Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6718135T>G" "" "VUS" "" "0000568683" "0" "30" "19" "6718146" "6718146" "subst" "0.00281011" "02326" "C3_000025" "g.6718146T>G" "" "" "" "C3(NM_000064.2):c.463A>C (p.K155Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6718135T>G" "" "likely benign" "" "0000568684" "0" "50" "19" "6718387" "6718387" "subst" "0.151468" "01943" "C3_000048" "g.6718387G>C" "" "" "" "C3(NM_000064.2):c.304C>G (p.R102G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6718376G>C" "" "VUS" "" "0000568685" "0" "50" "19" "6720575" "6720575" "subst" "0.000371769" "02325" "C3_000026" "g.6720575A>G" "" "" "" "C3(NM_000064.2):c.26T>C (p.L9P), C3(NM_000064.4):c.26T>C (p.(Leu9Pro), p.L9P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6720564A>G" "" "VUS" "" "0000568686" "0" "10" "19" "6720603" "6720604" "dup" "0" "02326" "C3_000049" "g.6720603_6720604dup" "" "" "" "C3(NM_000064.2):c.-3_-2dupAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6720592_6720593dup" "" "benign" "" "0000617918" "0" "30" "19" "6678160" "6678160" "subst" "0.000280244" "01943" "C3_000051" "g.6678160C>T" "" "" "" "C3(NM_000064.2):c.4850+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6678149C>T" "" "likely benign" "" "0000617919" "0" "30" "19" "6678459" "6678459" "subst" "1.22983E-5" "01943" "C3_000080" "g.6678459C>T" "" "" "" "C3(NM_000064.2):c.4638G>A (p.K1546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6678448C>T" "" "likely benign" "" "0000617920" "0" "50" "19" "6679429" "6679429" "subst" "0.000117766" "01943" "C3_000081" "g.6679429C>T" "" "" "" "C3(NM_000064.2):c.4535G>A (p.R1512H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6679418C>T" "" "VUS" "" "0000617921" "0" "30" "19" "6681985" "6681985" "subst" "1.62422E-5" "01943" "C3_000082" "g.6681985G>A" "" "" "" "C3(NM_000064.2):c.4317C>T (p.S1439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6681974G>A" "" "likely benign" "" "0000617922" "0" "30" "19" "6684380" "6684380" "subst" "0.000556305" "02327" "C3_000083" "g.6684380C>T" "" "" "" "C3(NM_000064.2):c.4172+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6684369C>T" "" "likely benign" "" "0000617923" "0" "30" "19" "6684853" "6684853" "subst" "0.00109638" "02327" "C3_000084" "g.6684853G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6684842G>A" "" "likely benign" "" "0000617924" "0" "50" "19" "6693083" "6693083" "subst" "0" "01943" "C3_000085" "g.6693083T>C" "" "" "" "C3(NM_000064.2):c.3242A>G (p.Y1081C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6693072T>C" "" "VUS" "" "0000617925" "0" "30" "19" "6710722" "6710722" "subst" "0" "01943" "C3_000087" "g.6710722G>T" "" "" "" "C3(NM_000064.2):c.1614C>A (p.I538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6710711G>T" "" "likely benign" "" "0000617926" "0" "50" "19" "6712521" "6712521" "subst" "0" "01943" "C3_000089" "g.6712521T>C" "" "" "" "C3(NM_000064.2):c.1117A>G (p.M373V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6712510T>C" "" "VUS" "" "0000617927" "0" "50" "19" "6712540" "6712540" "subst" "4.06078E-5" "02327" "C3_000090" "g.6712540T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6712529T>C" "" "VUS" "" "0000617928" "0" "50" "19" "6712585" "6712585" "subst" "2.43651E-5" "02327" "C3_000091" "g.6712585A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6712574A>G" "" "VUS" "" "0000617929" "0" "30" "19" "6719205" "6719205" "subst" "1.21926E-5" "02327" "C3_000092" "g.6719205C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6719194C>T" "" "likely benign" "" "0000624097" "0" "30" "19" "6678462" "6678462" "subst" "0.000607469" "02326" "C3_000053" "g.6678462G>A" "" "" "" "C3(NM_000064.2):c.4635C>T (p.Y1545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6678451G>A" "" "likely benign" "" "0000624098" "0" "30" "19" "6707228" "6707228" "subst" "4.0833E-6" "01943" "C3_000086" "g.6707228G>A" "" "" "" "C3(NM_000064.2):c.2104C>T (p.P702S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6707217G>A" "" "likely benign" "" "0000624099" "0" "50" "19" "6711092" "6711092" "subst" "4.06065E-5" "02325" "C3_000088" "g.6711092C>T" "" "" "" "C3(NM_000064.4):c.1385G>A (p.R462H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6711081C>T" "" "VUS" "" "0000658675" "0" "50" "19" "6677979" "6677979" "subst" "4.06068E-6" "02325" "C3_000050" "g.6677979C>G" "" "" "" "C3(NM_000064.2):c.4906G>C (p.E1636Q), C3(NM_000064.4):c.4906G>C (p.E1636Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6677968C>G" "" "VUS" "" "0000658676" "0" "30" "19" "6678452" "6678452" "subst" "0.00095373" "02326" "C3_000093" "g.6678452G>T" "" "" "" "C3(NM_000064.2):c.4645C>A (p.L1549M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6678441G>T" "" "likely benign" "" "0000658677" "0" "50" "19" "6678454" "6678454" "subst" "2.45626E-5" "02327" "C3_000094" "g.6678454C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6678443C>T" "" "VUS" "" "0000658678" "0" "50" "19" "6681967" "6681967" "subst" "4.06055E-6" "02325" "C3_000095" "g.6681967G>C" "" "" "" "C3(NM_000064.4):c.4335C>G (p.I1445M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6681956G>C" "" "VUS" "" "0000658679" "0" "30" "19" "6693046" "6693046" "subst" "2.84354E-5" "01943" "C3_000096" "g.6693046G>A" "" "" "" "C3(NM_000064.2):c.3279C>T (p.I1093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6693035G>A" "" "likely benign" "" "0000658680" "0" "30" "19" "6694650" "6694650" "subst" "0.000202209" "02325" "C3_000097" "g.6694650A>G" "" "" "" "C3(NM_000064.4):c.2951-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6694639A>G" "" "likely benign" "" "0000658681" "0" "30" "19" "6697382" "6697382" "subst" "1.21835E-5" "01943" "C3_000098" "g.6697382G>A" "" "" "" "C3(NM_000064.2):c.2769C>T (p.D923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6697371G>A" "" "likely benign" "" "0000658682" "0" "70" "19" "6697476" "6697476" "subst" "0" "02327" "C3_000099" "g.6697476G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6697465G>C" "" "likely pathogenic" "" "0000658683" "0" "50" "19" "6707142" "6707142" "subst" "0.000407807" "02327" "C3_000100" "g.6707142G>A" "" "" "" "C3(NM_000064.2):c.2190C>T (p.Y730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6707131G>A" "" "VUS" "" "0000658684" "0" "50" "19" "6710785" "6710785" "subst" "0" "02327" "C3_000101" "g.6710785C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6710774C>T" "" "VUS" "" "0000658685" "0" "30" "19" "6713240" "6713240" "subst" "1.21978E-5" "01943" "C3_000102" "g.6713240C>T" "" "" "" "C3(NM_000064.2):c.963G>A (p.G321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6713229C>T" "" "likely benign" "" "0000658686" "0" "30" "19" "6718430" "6718430" "subst" "4.06144E-6" "01943" "C3_000103" "g.6718430G>A" "" "" "" "C3(NM_000064.2):c.268-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6718419G>A" "" "likely benign" "" "0000681528" "0" "50" "19" "6678007" "6678007" "subst" "0.000629396" "02327" "C3_000105" "g.6678007A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681529" "0" "30" "19" "6678030" "6678030" "subst" "0.00119388" "02325" "C3_000002" "g.6678030T>G" "" "" "" "C3(NM_000064.2):c.4855A>C (p.S1619R, p.(Ser1619Arg)), C3(NM_000064.4):c.4855A>C (p.S1619R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681530" "0" "30" "19" "6678452" "6678452" "subst" "0.00095373" "02327" "C3_000093" "g.6678452G>T" "" "" "" "C3(NM_000064.2):c.4645C>A (p.L1549M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681531" "0" "30" "19" "6685010" "6685010" "subst" "0.000812229" "02327" "C3_000106" "g.6685010G>T" "" "" "" "C3(NM_000064.2):c.3958C>A (p.R1320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681532" "0" "30" "19" "6686258" "6686258" "subst" "0.000178669" "01943" "C3_000107" "g.6686258G>A" "" "" "" "C3(NM_000064.2):c.3687C>T (p.N1229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681533" "0" "30" "19" "6711070" "6711070" "subst" "4.06062E-6" "01943" "C3_000108" "g.6711070C>A" "" "" "" "C3(NM_000064.2):c.1407G>T (p.E469D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681534" "0" "50" "19" "6711076" "6711076" "subst" "0" "02327" "C3_000109" "g.6711076G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681535" "0" "30" "19" "6711080" "6711080" "subst" "4.06068E-6" "01943" "C3_000110" "g.6711080C>A" "" "" "" "C3(NM_000064.2):c.1397G>T (p.R466I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681536" "0" "50" "19" "6718135" "6718135" "subst" "0" "01943" "C3_000111" "g.6718135G>C" "" "" "" "C3(NM_000064.2):c.474C>G (p.P158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681537" "0" "30" "19" "6718358" "6718358" "subst" "0" "01943" "C3_000112" "g.6718358G>A" "" "" "" "C3(NM_000064.2):c.333C>T (p.T111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692897" "0" "50" "19" "6678268" "6678268" "subst" "8.12255E-6" "02327" "C3_000113" "g.6678268C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692898" "0" "50" "19" "6686185" "6686185" "subst" "8.1211E-6" "02327" "C3_000114" "g.6686185G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692899" "0" "50" "19" "6702215" "6702215" "subst" "2.05459E-5" "02327" "C3_000115" "g.6702215G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692900" "0" "50" "19" "6707175" "6707175" "subst" "0.00010591" "02327" "C3_000065" "g.6707175C>T" "" "" "" "C3(NM_000064.2):c.2157G>A (p.A719=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692901" "0" "50" "19" "6712373" "6712373" "subst" "4.46893E-5" "02327" "C3_000116" "g.6712373G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692902" "0" "30" "19" "6713216" "6713216" "subst" "4.47209E-5" "01943" "C3_000117" "g.6713216G>A" "" "" "" "C3(NM_000064.2):c.987C>T (p.T329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692903" "0" "50" "19" "6713275" "6713275" "subst" "4.06702E-5" "02327" "C3_000118" "g.6713275C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692904" "0" "50" "19" "6713302" "6713302" "subst" "2.03343E-5" "02327" "C3_000119" "g.6713302C>T" "" "" "" "C3(NM_000064.2):c.901G>A (p.V301M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692905" "0" "50" "19" "6714085" "6714085" "subst" "0" "02327" "C3_000120" "g.6714085T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692906" "0" "30" "19" "6714354" "6714354" "subst" "4.06167E-6" "01943" "C3_000121" "g.6714354C>T" "" "" "" "C3(NM_000064.2):c.599+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692907" "0" "50" "19" "6719425" "6719425" "subst" "4.07349E-6" "02327" "C3_000122" "g.6719425G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727556" "0" "50" "19" "6678035" "6678035" "subst" "4.06108E-6" "02326" "C3_000123" "g.6678035C>A" "" "" "" "C3(NM_000064.2):c.4851-1G>T, C3(NM_000064.4):c.4851-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727557" "0" "50" "19" "6678246" "6678246" "subst" "0.00021928" "02329" "C3_000052" "g.6678246C>T" "" "" "" "C3(NM_000064.2):c.4767G>A (p.K1589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727558" "0" "30" "19" "6679512" "6679512" "subst" "0.0022419" "02327" "C3_000006" "g.6679512G>A" "" "" "" "C3(NM_000064.2):c.4457-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727559" "0" "30" "19" "6682162" "6682162" "subst" "4.06068E-6" "01943" "C3_000124" "g.6682162G>A" "" "" "" "C3(NM_000064.2):c.4251C>T (p.D1417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727560" "0" "50" "19" "6682233" "6682233" "subst" "4.06095E-6" "02327" "C3_000125" "g.6682233C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727561" "0" "30" "19" "6707265" "6707265" "subst" "0.00105486" "02326" "C3_000066" "g.6707265C>T" "" "" "" "C3(NM_000064.2):c.2067G>A (p.E689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727562" "0" "30" "19" "6707878" "6707878" "subst" "1.21922E-5" "02326" "C3_000068" "g.6707878G>A" "" "" "" "C3(NM_000064.2):c.1908C>T (p.A636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727563" "0" "30" "19" "6707878" "6707878" "subst" "1.21922E-5" "02327" "C3_000068" "g.6707878G>A" "" "" "" "C3(NM_000064.2):c.1908C>T (p.A636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727564" "0" "50" "19" "6707931" "6707931" "subst" "0.000309358" "02327" "C3_000126" "g.6707931C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727565" "0" "30" "19" "6714271" "6714271" "subst" "0.000203087" "02326" "C3_000076" "g.6714271G>A" "" "" "" "C3(NM_000064.2):c.600-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727566" "0" "50" "19" "6718146" "6718146" "subst" "0.00281011" "02329" "C3_000025" "g.6718146T>G" "" "" "" "C3(NM_000064.2):c.463A>C (p.K155Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727567" "0" "30" "19" "6720549" "6720549" "subst" "0" "01943" "C3_000127" "g.6720549G>A" "" "" "" "C3(NM_000064.2):c.52C>T (p.P18S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734287" "0" "70" "19" "6697473" "6697473" "subst" "8.12123E-6" "04011" "C3_000128" "g.6697473G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000763431" "21" "90" "19" "6707524" "6707524" "del" "0" "03256" "C3_000131" "g.6707524del" "" "{DOI:Ghannam 2014:10.1016/j.molimm.2013.11.010}" "" "" "Compound heterozygous carrier, highly affected by chronic pyogenic infections. Both heterozygous parents are asymptomatic." "Germline" "" "" "0" "" "" "g.6707513del" "" "pathogenic (recessive)" "ACMG" "0000763432" "11" "90" "19" "6702546" "6702546" "subst" "4.06062E-6" "03256" "C3_000063" "g.6702546G>A" "" "{DOI:Ghannam 2014:10.1016/j.molimm.2013.11.010}" "" "" "Compound heterozygous proband highly affected by recurrent pyogenic infections. Both heterozygous parents are asymptomatic." "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000763435" "1" "90" "19" "6693478" "6693478" "dup" "0" "03256" "C3_000130" "g.6693478dup" "" "{DOI:Kida 2008:10.1016/j.bcmd.2007.11.002}" "" "3176_3177insT" "" "Germline" "" "" "0" "" "" "g.6693467dup" "" "pathogenic" "" "0000763436" "2" "90" "19" "6693022" "6693022" "subst" "0" "03256" "C3_000129" "g.6693022G>C" "" "{DOI:Kida 2008:10.1016/j.bcmd.2007.11.002}" "" "" "" "Germline" "" "" "0" "" "" "g.6693011G>C" "" "pathogenic (recessive)" "" "0000763437" "21" "90" "19" "6711045" "6711045" "subst" "0" "03256" "C3_000132" "g.6711045G>A" "" "{DOI:Okura 2011:10.1111/j.1442-200X.2010.03259.x}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000763438" "11" "90" "19" "6712419" "6712419" "subst" "0" "03256" "C3_000133" "g.6712419T>A" "" "{DOI:Okura 2011:10.1111/j.1442-200X.2010.03259.x}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000764173" "3" "90" "19" "6719320" "6719321" "del" "0" "03256" "C3_000137" "g.6719320_6719321del" "" "{DOI:Jimenez- Reinoso 2018:10.1016/j.jaci.2017.09.037}" "" "168_169del" "no functional evidence for this variation" "Germline" "yes" "" "0" "" "" "g.6719309_6719310del" "{CV:VCV000599117.1}" "pathogenic (recessive)" "" "0000764174" "21" "90" "19" "6712520" "6712520" "subst" "0" "03256" "C3_000136" "g.6712520A>G" "" "{DOI:Sfyroera 2015:10.4049/jimmunol.1402781}" "" "1180T>C" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000764175" "0" "90" "19" "6679212" "6679212" "subst" "0" "03256" "C3_000135" "g.6679212G>C" "" "{DOI:Santos-Valente 2013:10.1007/s10875-012-9775-z}" "" "C4554G" "variant product located at the first position of the C345C domain" "Germline" "" "" "0" "" "" "g.6679201G>C" "" "pathogenic" "" "0000764176" "3" "90" "19" "6679212" "6679212" "subst" "0" "03256" "C3_000135" "g.6679212G>C" "" "{DOI:Santos-Valente 2013:10.1007/s10875-012-9775-z }" "" "" "Cys1518 is a highly conserved amino acid residue among species.\r\np.(Cys1518Trp) affects the first position of the C345C domain" "Germline" "" "" "0" "" "" "g.6679201G>C" "" "pathogenic" "" "0000809081" "0" "50" "19" "6707072" "6707072" "subst" "0.000420125" "02327" "C3_000138" "g.6707072C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809082" "0" "30" "19" "6707129" "6707129" "subst" "0.00213976" "02326" "C3_000064" "g.6707129G>A" "" "" "" "C3(NM_000064.2):c.2203C>T (p.R735W), C3(NM_000064.4):c.2203C>T (p.R735W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809083" "0" "30" "19" "6707148" "6707148" "subst" "0.000342477" "01943" "C3_000139" "g.6707148G>A" "" "" "" "C3(NM_000064.2):c.2184C>T (p.C728=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809084" "0" "50" "19" "6709782" "6709782" "subst" "3.65473E-5" "02327" "C3_000140" "g.6709782C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809085" "0" "30" "19" "6710860" "6710860" "subst" "0.000534746" "02326" "C3_000141" "g.6710860G>T" "" "" "" "C3(NM_000064.2):c.1480-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809086" "0" "30" "19" "6711025" "6711025" "subst" "0.00026802" "02326" "C3_000071" "g.6711025C>T" "" "" "" "C3(NM_000064.2):c.1452G>A (p.E484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809087" "0" "30" "19" "6711028" "6711028" "subst" "0.000117765" "02326" "C3_000142" "g.6711028G>A" "" "" "" "C3(NM_000064.2):c.1449C>T (p.H483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809088" "0" "30" "19" "6720575" "6720575" "subst" "0.000371769" "02326" "C3_000026" "g.6720575A>G" "" "" "" "C3(NM_000064.2):c.26T>C (p.L9P), C3(NM_000064.4):c.26T>C (p.(Leu9Pro), p.L9P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000832440" "3" "90" "19" "6678468" "6678468" "subst" "0" "03256" "C3_000143" "g.6678468T>C" "" "{PMID:Tsukumura 2005:15781264}, {DOI:Tsukumura 2005:10.1016/j.bbrc.2005.02.159}" "" "" "exon 39 skipping: splice acceptor site mutation in intron 38 causes aberrant splicing of exon 39, resulting in defective secretion of C3" "Germline" "" "rs111595742" "0" "" "" "g.6678457T>C" "{CV:VCV000017064.1}" "pathogenic (recessive)" "" "0000832481" "3" "90" "19" "6696011" "6696842" "del" "0" "03256" "C3_000144" "g.6696011_6696842del" "" "{DOI:Alper 1972:10.1016/s0140-6736(72)92598-6}, {PMID:Botto 1992:1350678}, {DOI:Botto 1992:10.1073/pnas.89.11.4957}" "" "830-nt deletion of exons 22 and 23 from gene C3 plus flanking intronic sequences" "" "Germline" "" "" "0" "" "" "g.6696000_6696831del" "{CV:VCV000017059.2}" "pathogenic (recessive)" "" "0000832517" "1" "90" "19" "6696011" "6696842" "del" "0" "00006" "C3_000144" "g.6696011_6696842del" "2/174 control individuals" "{PMID:Botto 1992:1350678}, {DOI:Botto 1992:10.1073/pnas.89.11.4957}" "" "" "" "Germline" "" "" "0" "" "" "g.6696000_6696831del" "" "pathogenic (recessive)" "" "0000832531" "11" "70" "19" "6710688" "6710688" "subst" "0" "03256" "C3_000146" "g.6710688A>G" "" "{PMID:Ghannam 2008:18802120}, {DOI:Ghannam 2008:10.4049/jimmunol.181.7.5158}" "" "" "Compound heterozygous carrier, with a c.1648T>C paternal variant and a null maternal variant.\r\nFather and mother, and two siblings, are asymptomatic. The homozygous twin died of acute fulminating bacterial neonatal meningitis." "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000832553" "3" "70" "19" "6702481" "6702481" "subst" "4.06085E-6" "03256" "C3_000145" "g.6702481C>T" "" "{PMID:Botto 1990:2212005}, {DOI:Botto 1990:10.1172/JCI114821}" "" "IVS18GT-AT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000855713" "0" "50" "19" "6678189" "6678189" "subst" "0.000207103" "02327" "C3_000003" "g.6678189G>A" "" "" "" "C3(NM_000064.2):c.4824C>T (p.S1608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855714" "0" "30" "19" "6678246" "6678246" "subst" "0.00021928" "01943" "C3_000052" "g.6678246C>T" "" "" "" "C3(NM_000064.2):c.4767G>A (p.K1589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855715" "0" "30" "19" "6679444" "6679444" "subst" "4.46679E-5" "01943" "C3_000054" "g.6679444C>T" "" "" "" "C3(NM_000064.2):c.4520G>A (p.R1507H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855716" "0" "30" "19" "6679480" "6679480" "subst" "2.43651E-5" "02326" "C3_000148" "g.6679480G>A" "" "" "" "C3(NM_000064.2):c.4484C>T (p.P1495L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855717" "0" "30" "19" "6681946" "6681946" "subst" "4.06065E-6" "02326" "C3_000055" "g.6681946C>G" "" "" "" "C3(NM_000064.2):c.4350+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855718" "0" "30" "19" "6684578" "6684578" "subst" "2.03028E-5" "01943" "C3_000149" "g.6684578C>T" "" "" "" "C3(NM_000064.2):c.4113G>A (p.P1371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855719" "0" "50" "19" "6686257" "6686257" "subst" "1.62423E-5" "02325" "C3_000151" "g.6686257C>T" "" "" "" "C3(NM_000064.4):c.3688G>A (p.V1230M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855720" "0" "30" "19" "6694444" "6694444" "subst" "4.06448E-6" "01943" "C3_000152" "g.6694444T>G" "" "" "" "C3(NM_000064.2):c.3152A>C (p.K1051T, p.(Lys1051Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855721" "0" "30" "19" "6707567" "6707567" "subst" "0.00142818" "02326" "C3_000067" "g.6707567G>A" "" "" "" "C3(NM_000064.2):c.1976-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855722" "0" "50" "19" "6707877" "6707877" "subst" "0.000239828" "02327" "C3_000018" "g.6707877C>G" "" "" "" "C3(NM_000064.2):c.1909G>C (p.G637R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855724" "0" "30" "19" "6712376" "6712376" "subst" "2.43748E-5" "01943" "C3_000155" "g.6712376G>A" "" "" "" "C3(NM_000064.2):c.1161C>T (p.V387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855725" "0" "30" "19" "6713306" "6713306" "subst" "0" "01943" "C3_000157" "g.6713306C>T" "" "" "" "C3(NM_000064.2):c.897G>A (p.E299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855726" "0" "30" "19" "6713399" "6713399" "subst" "0.000694811" "02326" "C3_000075" "g.6713399C>T" "" "" "" "C3(NM_000064.2):c.876+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855727" "0" "30" "19" "6713459" "6713459" "subst" "6.09211E-5" "02326" "C3_000159" "g.6713459C>T" "" "" "" "C3(NM_000064.2):c.835G>A (p.E279K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855728" "0" "90" "19" "6713468" "6713468" "subst" "0" "02325" "C3_000160" "g.6713468G>A" "" "" "" "C3(NM_000064.4):c.826C>T (p.Q276*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855729" "0" "30" "19" "6714253" "6714253" "subst" "8.12275E-6" "01943" "C3_000161" "g.6714253G>A" "" "" "" "C3(NM_000064.2):c.606C>T (p.G202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855730" "0" "50" "19" "6719394" "6719394" "subst" "4.4682E-5" "01943" "C3_000162" "g.6719394T>A" "" "" "" "C3(NM_000064.2):c.95A>T (p.N32I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866283" "0" "30" "19" "6678186" "6678186" "subst" "0.000154316" "01943" "C3_000147" "g.6678186G>A" "" "" "" "C3(NM_000064.2):c.4827C>T (p.S1609=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866285" "0" "30" "19" "6707142" "6707142" "subst" "0.000407807" "02326" "C3_000100" "g.6707142G>A" "" "" "" "C3(NM_000064.2):c.2190C>T (p.Y730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866286" "0" "30" "19" "6709818" "6709818" "subst" "2.84299E-5" "01943" "C3_000153" "g.6709818C>T" "" "" "" "C3(NM_000064.2):c.1722G>A (p.Q574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866287" "0" "30" "19" "6713228" "6713228" "subst" "4.06544E-6" "01943" "C3_000156" "g.6713228G>A" "" "" "" "C3(NM_000064.2):c.975C>T (p.Y325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866288" "0" "30" "19" "6713407" "6713407" "subst" "8.93684E-5" "02326" "C3_000158" "g.6713407G>T" "" "" "" "C3(NM_000064.2):c.876+11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866289" "0" "10" "19" "6713511" "6713511" "subst" "0.00302786" "02326" "C3_000045" "g.6713511G>A" "" "" "" "C3(NM_000064.2):c.783C>T (p.Y261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866290" "0" "90" "19" "6718128" "6718128" "subst" "4.06091E-6" "02326" "C3_000047" "g.6718128G>A" "" "" "" "C3(NM_000064.2):c.481C>T (p.R161W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895155" "0" "50" "19" "6678462" "6678462" "subst" "0.000607469" "02327" "C3_000053" "g.6678462G>A" "" "" "" "C3(NM_000064.2):c.4635C>T (p.Y1545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895156" "0" "30" "19" "6680150" "6680150" "subst" "0.000158365" "02327" "C3_000164" "g.6680150C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895157" "0" "30" "19" "6685010" "6685010" "subst" "0.000812229" "02326" "C3_000106" "g.6685010G>T" "" "" "" "C3(NM_000064.2):c.3958C>A (p.R1320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895158" "0" "10" "19" "6686274" "6686274" "subst" "0.00137653" "02326" "C3_000009" "g.6686274C>T" "" "" "" "C3(NM_000064.2):c.3671G>A (p.G1224D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895159" "0" "30" "19" "6686908" "6686908" "subst" "4.06118E-6" "02326" "C3_000165" "g.6686908C>A" "" "" "" "C3(NM_000064.2):c.3495G>T (p.L1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895160" "0" "50" "19" "6690698" "6690698" "subst" "7.30911E-5" "02325" "C3_000166" "g.6690698G>A" "" "" "" "C3(NM_000064.4):c.3431C>T (p.T1144M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895161" "0" "30" "19" "6694652" "6694654" "del" "0" "02326" "C3_000167" "g.6694652_6694654del" "" "" "" "C3(NM_000064.2):c.2951-5_2951-3delTGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895162" "0" "30" "19" "6697466" "6697466" "subst" "0.000503521" "02326" "C3_000168" "g.6697466G>A" "" "" "" "C3(NM_000064.2):c.2685C>T (p.S895=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895163" "0" "30" "19" "6702463" "6702463" "subst" "0.000194957" "02326" "C3_000169" "g.6702463G>A" "" "" "" "C3(NM_000064.2):c.2354+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895164" "0" "30" "19" "6710994" "6710994" "subst" "8.12605E-6" "02326" "C3_000170" "g.6710994G>A" "" "" "" "C3(NM_000064.2):c.1479+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895165" "0" "30" "19" "6711070" "6711070" "subst" "0.00322819" "02326" "C3_000040" "g.6711070C>G" "" "" "" "C3(NM_000064.2):c.1407G>C (p.E469D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895166" "0" "30" "19" "6713983" "6713983" "subst" "4.0934E-6" "02327" "C3_000175" "g.6713983C>T" "" "" "" "C3(NM_000064.4):c.773+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895167" "0" "50" "19" "6714079" "6714079" "subst" "2.03057E-5" "02326" "C3_000023" "g.6714079C>T" "" "" "" "C3(NM_000064.2):c.697G>A (p.E233K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895168" "0" "30" "19" "6714348" "6714348" "subst" "0" "02327" "C3_000176" "g.6714348A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895169" "0" "30" "19" "6719212" "6719212" "subst" "4.0623E-6" "02327" "C3_000177" "g.6719212C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896982" "0" "90" "19" "6713298" "6713298" "subst" "0" "03256" "C3_000163" "g.6713298A>G" "" "{PMID:Mohlin 2018:30131807}, {DOI:Mohlin 2018:10.3389/fimmu.2018.01813}" "" "" "Leu302 position located in the MG3 domain of C3, playing a critical role in the conversion from C3 to C3b.\r\np.(Leu302Pro) variant product was not secreted from the cells after transient transfection." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000897871" "0" "90" "19" "6713230" "6713230" "subst" "0" "03256" "C3_000174" "g.6713230A>G" "" "{DOI:Mohlin 2018:10.3389/fimmu.2018.01813} {PMID:Mohlin 2018:30131807}" "" "" "Tyr325 located within the MG3 domain of the C3 beta chain taht plays a critical role in the conversion from C3 to C3b.\r\nSecretion of the p.(Tyr325His) variant yields approximately half C3 concentration in the cell media compared with wild type." "Germline" "" "" "0" "" "" "g.6713219A>G" "" "likely pathogenic" "" "0000897872" "0" "90" "19" "6713226" "6713226" "subst" "0" "03256" "C3_000173" "g.6713226A>G" "" "{DOI:Mohlin 2018:10.3389/fimmu.2018.01813} {PMID:Mohlin 2018:30131807}" "" "" "Analysis of the variant p.(Val326Ala) expression shows a yield of approximately half C3 concentration in the supernatant from the transient transfections compared with wild type C3; variant found in control group" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000897873" "0" "90" "19" "6713224" "6713224" "subst" "4.06537E-6" "03256" "C3_000172" "g.6713224A>G" "" "{DOI:Mohlin 2018:10.3389/fimmu.2018.01813} {PMID:Mohlin 2018:30131807}" "" "" "Ser327 located within the MG3 domain of C3 beta chain; p.(Ser327Pro) C3 variant not secreted from the cells after transient transfections. p.(Ser327Pro) variant found in the control group; variant found in the control group" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000897874" "0" "90" "19" "6713215" "6713215" "subst" "5.28533E-5" "03256" "C3_000171" "g.6713215C>T" "" "{DOI:Mohlin 2018: 10.3389/fimmu.2018.01813} {PMID:Mohlin 2018:30131807}" "" "" "Val330 located in the MG3 domain of the C3 beta chain; p.(Val330Ile) C3 variant expression yields approximately half C3 concentration in the supernatant from the transient transfections compared with wild type. p.(Val330Ile) variant found in the control group; variant found in the control group" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915295" "0" "30" "19" "6678030" "6678030" "subst" "0.00119388" "02326" "C3_000002" "g.6678030T>G" "" "" "" "C3(NM_000064.2):c.4855A>C (p.S1619R, p.(Ser1619Arg)), C3(NM_000064.4):c.4855A>C (p.S1619R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915296" "0" "70" "19" "6678035" "6678035" "subst" "4.06108E-6" "02325" "C3_000123" "g.6678035C>A" "" "" "" "C3(NM_000064.2):c.4851-1G>T, C3(NM_000064.4):c.4851-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915297" "0" "30" "19" "6678246" "6678246" "subst" "0.00021928" "02327" "C3_000052" "g.6678246C>T" "" "" "" "C3(NM_000064.2):c.4767G>A (p.K1589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915298" "0" "50" "19" "6679219" "6679219" "subst" "1.21825E-5" "02326" "C3_000178" "g.6679219T>G" "" "" "" "C3(NM_000064.2):c.4547A>C (p.E1516A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915299" "0" "10" "19" "6679512" "6679512" "subst" "0.0022419" "02326" "C3_000006" "g.6679512G>A" "" "" "" "C3(NM_000064.2):c.4457-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915300" "0" "30" "19" "6684380" "6684380" "subst" "0.000556305" "02326" "C3_000083" "g.6684380C>T" "" "" "" "C3(NM_000064.2):c.4172+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915301" "0" "50" "19" "6697752" "6697752" "subst" "8.12526E-6" "02325" "C3_000179" "g.6697752C>T" "" "" "" "C3(NM_000064.4):c.2494G>A (p.D832N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915302" "0" "50" "19" "6707129" "6707129" "subst" "0.00213976" "02325" "C3_000064" "g.6707129G>A" "" "" "" "C3(NM_000064.2):c.2203C>T (p.R735W), C3(NM_000064.4):c.2203C>T (p.R735W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915303" "0" "30" "19" "6710985" "6710985" "subst" "4.06418E-5" "02326" "C3_000180" "g.6710985G>C" "" "" "" "C3(NM_000064.2):c.1479+13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915304" "0" "30" "19" "6711125" "6711125" "subst" "1.21842E-5" "02326" "C3_000072" "g.6711125T>C" "" "" "" "C3(NM_000064.2):c.1352A>G (p.N451S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915305" "0" "70" "19" "6711204" "6711204" "subst" "0.000218826" "02327" "C3_000181" "g.6711204G>A" "" "" "" "C3(NM_000064.2):c.1273C>T (p.R425C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915306" "0" "50" "19" "6711204" "6711204" "subst" "0.000218826" "02326" "C3_000181" "g.6711204G>A" "" "" "" "C3(NM_000064.2):c.1273C>T (p.R425C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915307" "0" "30" "19" "6712504" "6712504" "subst" "0.00133607" "02327" "C3_000021" "g.6712504C>T" "" "" "" "C3(NM_000064.2):c.1119+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915308" "0" "50" "19" "6714008" "6714008" "subst" "2.84747E-5" "02327" "C3_000182" "g.6714008G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926949" "0" "30" "19" "6678189" "6678189" "subst" "0.000207103" "02326" "C3_000003" "g.6678189G>A" "" "" "" "C3(NM_000064.2):c.4824C>T (p.S1608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926950" "0" "90" "19" "6680185" "6680185" "subst" "0" "02327" "C3_000183" "g.6680185G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926951" "0" "50" "19" "6711168" "6711168" "subst" "0" "02326" "C3_000184" "g.6711168C>T" "" "" "" "C3(NM_000064.2):c.1309G>A (p.A437T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926952" "0" "30" "19" "6713302" "6713302" "subst" "2.03343E-5" "02326" "C3_000119" "g.6713302C>T" "" "" "" "C3(NM_000064.2):c.901G>A (p.V301M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926953" "0" "30" "19" "6714452" "6714452" "subst" "4.06379E-5" "02326" "C3_000185" "g.6714452C>T" "" "" "" "C3(NM_000064.2):c.510G>A (p.P170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931112" "0" "30" "19" "6678222" "6678222" "subst" "0.000211174" "02327" "C3_000186" "g.6678222C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931113" "0" "30" "19" "6697562" "6697562" "subst" "8.12295E-6" "02326" "C3_000187" "g.6697562C>T" "" "" "" "C3(NM_000064.2):c.2589G>A (p.R863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931114" "0" "50" "19" "6707876" "6707876" "subst" "0" "02327" "C3_000188" "g.6707876C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931115" "0" "50" "19" "6710661" "6710661" "subst" "0" "02329" "C3_000189" "g.6710661A>G" "" "" "" "C3(NM_000064.4):c.1675T>C (p.C559R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931116" "0" "30" "19" "6718190" "6718190" "subst" "2.84287E-5" "02326" "C3_000190" "g.6718190A>G" "" "" "" "C3(NM_000064.2):c.434-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931117" "0" "70" "19" "6718315" "6718315" "subst" "0" "02326" "C3_000191" "g.6718315G>A" "" "" "" "C3(NM_000064.2):c.376C>T (p.Q126*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951366" "0" "30" "19" "6686204" "6686204" "subst" "0" "02326" "C3_000192" "g.6686204G>A" "" "" "" "C3(NM_000064.2):c.3741C>T (p.D1247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951367" "0" "50" "19" "6702155" "6702155" "subst" "0" "02325" "C3_000193" "g.6702155C>T" "" "" "" "C3(NM_000064.4):c.2423G>A (p.S808N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951368" "0" "30" "19" "6707866" "6707866" "subst" "3.65827E-5" "02326" "C3_000194" "g.6707866G>A" "" "" "" "C3(NM_000064.2):c.1920C>T (p.S640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970027" "0" "30" "19" "6694578" "6694578" "subst" "3.65654E-5" "02326" "C3_000195" "g.6694578G>A" "" "" "" "C3(NM_000064.2):c.3018C>T (p.T1006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970028" "0" "50" "19" "6697712" "6697712" "subst" "0" "02327" "C3_000196" "g.6697712A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983690" "0" "50" "19" "6680256" "6680256" "subst" "0.000276124" "02327" "C3_000197" "g.6680256C>G" "" "" "" "C3(NM_000064.2):c.4369G>C (p.D1457H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983691" "0" "50" "19" "6697450" "6697450" "subst" "0" "02327" "C3_000198" "g.6697450C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983692" "0" "50" "19" "6702570" "6702570" "subst" "0" "02327" "C3_000199" "g.6702570T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983693" "0" "30" "19" "6707888" "6707888" "subst" "0.000426708" "02326" "C3_000200" "g.6707888T>C" "" "" "" "C3(NM_000064.2):c.1898A>G (p.K633R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983694" "0" "30" "19" "6710860" "6710860" "subst" "0.000534746" "02327" "C3_000141" "g.6710860G>T" "" "" "" "C3(NM_000064.2):c.1480-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989835" "11" "90" "19" "6718386" "6718386" "dup" "0" "03256" "C3_000202" "g.6718386dup" "" "{DOI:Bernacchia 2024:10.3389/fped.2024.1424380}" "" "" "Compound heterozygous siblings c.[305dup(;)1269+5G>T]" "Germline" "yes" "" "0" "" "" "g.6718375dup" "" "pathogenic (recessive)" "" "0000989836" "21" "90" "19" "6712263" "6712263" "subst" "0" "03256" "C3_000201" "g.6712263C>A" "" "{DOI:Bernacchia 2024:10.3389/fped.2024.1424380}" "" "" "" "Germline" "" "" "0" "" "" "g.6712252C>A" "" "pathogenic (recessive)" "" "0001005200" "0" "30" "19" "6678030" "6678030" "subst" "0.00119388" "01804" "C3_000002" "g.6678030T>G" "" "" "" "C3(NM_000064.2):c.4855A>C (p.S1619R, p.(Ser1619Arg)), C3(NM_000064.4):c.4855A>C (p.S1619R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005201" "0" "30" "19" "6685152" "6685152" "subst" "0" "02327" "C3_000203" "g.6685152G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005202" "0" "50" "19" "6694444" "6694444" "subst" "4.06448E-6" "01804" "C3_000152" "g.6694444T>G" "" "" "" "C3(NM_000064.2):c.3152A>C (p.K1051T, p.(Lys1051Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005203" "0" "50" "19" "6694528" "6694528" "subst" "4.06075E-6" "01804" "C3_000204" "g.6694528A>G" "" "" "" "C3(NM_000064.2):c.3068T>C (p.(Ile1023Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005204" "0" "30" "19" "6696625" "6696625" "subst" "0" "01804" "C3_000205" "g.6696625C>G" "" "" "" "C3(NM_000064.2):c.2842G>C (p.(Asp948His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015835" "0" "30" "19" "6680256" "6680256" "subst" "0.000276124" "02326" "C3_000197" "g.6680256C>G" "" "" "" "C3(NM_000064.2):c.4369G>C (p.D1457H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015836" "0" "30" "19" "6694652" "6694654" "del" "0" "02327" "C3_000167" "g.6694652_6694654del" "" "" "" "C3(NM_000064.2):c.2951-5_2951-3delTGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015837" "0" "30" "19" "6697466" "6697466" "subst" "0.000503521" "02327" "C3_000168" "g.6697466G>A" "" "" "" "C3(NM_000064.2):c.2685C>T (p.S895=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015838" "0" "30" "19" "6710722" "6710722" "subst" "3.66068E-5" "02327" "C3_000206" "g.6710722G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027274" "0" "10" "19" "6678474" "6678474" "subst" "0.0626963" "02327" "C3_000207" "g.6678474G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027275" "0" "30" "19" "6684665" "6684665" "subst" "0.000259877" "02325" "C3_000208" "g.6684665G>A" "" "" "" "C3(NM_000064.4):c.4030-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027276" "0" "50" "19" "6697381" "6697381" "subst" "0" "02327" "C3_000209" "g.6697381C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027277" "0" "50" "19" "6709705" "6709705" "subst" "2.0307E-5" "02329" "C3_000210" "g.6709705G>A" "" "" "" "C3(NM_000064.4):c.1835C>T (p.T612M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027278" "0" "50" "19" "6712580" "6712580" "subst" "0" "02325" "C3_000211" "g.6712580T>C" "" "" "" "C3(NM_000064.4):c.1058A>G (p.Y353C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027279" "0" "50" "19" "6714091" "6714091" "subst" "4.06144E-6" "02327" "C3_000212" "g.6714091G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043217" "0" "50" "19" "6686289" "6686289" "subst" "3.24857E-5" "01804" "C3_000213" "g.6686289C>T" "" "" "" "C3(NM_000064.4):c.3656G>A (p.(Arg1219His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043218" "0" "50" "19" "6696675" "6696675" "subst" "0.000109646" "02327" "C3_000214" "g.6696675G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043219" "0" "30" "19" "6711028" "6711028" "subst" "0.000117765" "02327" "C3_000142" "g.6711028G>A" "" "" "" "C3(NM_000064.2):c.1449C>T (p.H483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043220" "0" "50" "19" "6720575" "6720575" "subst" "0.000371769" "01804" "C3_000026" "g.6720575A>G" "" "" "" "C3(NM_000064.2):c.26T>C (p.L9P), C3(NM_000064.4):c.26T>C (p.(Leu9Pro), p.L9P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046758" "0" "30" "19" "6695991" "6695991" "subst" "0" "02326" "C3_000215" "g.6695991C>T" "" "" "" "C3(NM_000064.2):c.2950+399G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046759" "0" "30" "19" "6702184" "6702184" "subst" "0.000632731" "02327" "C3_000016" "g.6702184G>A" "" "" "" "C3(NM_000064.2):c.2394C>T (p.S798=)" "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 C3 ## Count = 282 "{{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}}" "0000248716" "00003702" "10" "2745" "0" "2745" "0" "c.2745T>C" "r.(?)" "p.(Ala915=)" "" "0000254708" "00003702" "30" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.(Leu9Pro)" "" "0000266362" "00003702" "10" "2246" "-8" "2246" "-8" "c.2246-8C>T" "r.(=)" "p.(=)" "" "0000266363" "00003702" "10" "2421" "0" "2421" "0" "c.2421G>C" "r.(?)" "p.(Val807=)" "" "0000266364" "00003702" "10" "2863" "7" "2863" "7" "c.2863+7C>T" "r.(=)" "p.(=)" "" "0000266365" "00003702" "10" "4457" "-4" "4457" "-4" "c.4457-4G>A" "r.spl?" "p.?" "" "0000266366" "00003702" "10" "4896" "0" "4896" "0" "c.4896C>T" "r.(?)" "p.(Pro1632=)" "" "0000269432" "00003702" "10" "1119" "15" "1119" "15" "c.1119+15G>A" "r.(=)" "p.(=)" "" "0000269433" "00003702" "30" "1677" "0" "1677" "0" "c.1677C>T" "r.(?)" "p.(Cys559=)" "" "0000269434" "00003702" "10" "1686" "64" "1686" "65" "c.1686+64_1686+65del" "r.(=)" "p.(=)" "" "0000269435" "00003702" "10" "2440" "116" "2440" "116" "c.2440+116C>A" "r.(=)" "p.(=)" "" "0000269436" "00003702" "30" "2901" "0" "2901" "0" "c.2901C>T" "r.(?)" "p.(Leu967=)" "" "0000269437" "00003702" "10" "3216" "0" "3216" "0" "c.3216G>T" "r.(?)" "p.(Arg1072=)" "" "0000269438" "00003702" "10" "4260" "38" "4260" "38" "c.4260+38G>T" "r.(=)" "p.(=)" "" "0000269439" "00003702" "30" "599" "42" "599" "42" "c.599+42C>T" "r.(=)" "p.(=)" "" "0000269440" "00003702" "10" "741" "0" "741" "0" "c.741C>T" "r.(?)" "p.(Asn247=)" "" "0000272298" "00003702" "50" "1909" "0" "1909" "0" "c.1909G>C" "r.(?)" "p.(Gly637Arg)" "" "0000272299" "00003702" "30" "2394" "0" "2394" "0" "c.2394C>T" "r.(?)" "p.(Ser798=)" "" "0000272300" "00003702" "10" "3671" "0" "3671" "0" "c.3671G>A" "r.(?)" "p.(Gly1224Asp)" "" "0000272301" "00003702" "30" "4097" "0" "4097" "0" "c.4097C>T" "r.(?)" "p.(Thr1366Ile)" "" "0000272302" "00003702" "10" "4457" "-5" "4457" "-5" "c.4457-5C>T" "r.spl?" "p.?" "" "0000272303" "00003702" "30" "4631" "-9" "4631" "-9" "c.4631-9C>T" "r.(=)" "p.(=)" "" "0000272304" "00003702" "30" "463" "0" "463" "0" "c.463A>C" "r.(?)" "p.(Lys155Gln)" "" "0000272305" "00003702" "30" "4824" "0" "4824" "0" "c.4824C>T" "r.(?)" "p.(Ser1608=)" "" "0000272306" "00003702" "30" "4855" "0" "4855" "0" "c.4855A>C" "r.(?)" "p.(Ser1619Arg)" "" "0000272307" "00003702" "50" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Glu233Lys)" "" "0000338598" "00003702" "10" "4457" "-4" "4457" "-4" "c.4457-4G>A" "r.spl?" "p.?" "" "0000338599" "00003702" "10" "3391" "-6" "3391" "-6" "c.3391-6T>C" "r.(=)" "p.(=)" "" "0000338600" "00003702" "10" "3391" "-8" "3391" "-8" "c.3391-8T>C" "r.(=)" "p.(=)" "" "0000338601" "00003702" "10" "2864" "-20" "2864" "-20" "c.2864-20A>G" "r.(=)" "p.(=)" "" "0000338602" "00003702" "10" "2863" "7" "2863" "7" "c.2863+7C>T" "r.(=)" "p.(=)" "" "0000338603" "00003702" "10" "2246" "-8" "2246" "-8" "c.2246-8C>T" "r.(=)" "p.(=)" "" "0000338604" "00003702" "30" "1119" "10" "1119" "10" "c.1119+10G>A" "r.(=)" "p.(=)" "" "0000340625" "00003702" "10" "4311" "0" "4311" "0" "c.4311C>T" "r.(?)" "p.(Ala1437=)" "" "0000340668" "00003702" "10" "2745" "0" "2745" "0" "c.2745T>C" "r.(?)" "p.(Ala915=)" "" "0000340681" "00003702" "10" "912" "0" "912" "0" "c.912G>A" "r.(?)" "p.(Arg304=)" "" "0000340867" "00003702" "30" "2901" "0" "2901" "0" "c.2901C>T" "r.(?)" "p.(Leu967=)" "" "0000340896" "00003702" "10" "4896" "0" "4896" "0" "c.4896C>T" "r.(?)" "p.(Pro1632=)" "" "0000340924" "00003702" "10" "1554" "0" "1554" "0" "c.1554C>A" "r.(?)" "p.(Pro518=)" "" "0000340977" "00003702" "10" "2430" "0" "2430" "0" "c.2430G>A" "r.(?)" "p.(Ser810=)" "" "0000341019" "00003702" "10" "1836" "0" "1836" "0" "c.1836G>A" "r.(?)" "p.(Thr612=)" "" "0000341030" "00003702" "10" "2715" "0" "2715" "0" "c.2715C>T" "r.(?)" "p.(Thr905=)" "" "0000341062" "00003702" "10" "1692" "0" "1692" "0" "c.1692G>A" "r.(?)" "p.(Val564=)" "" "0000341065" "00003702" "10" "2421" "0" "2421" "0" "c.2421G>C" "r.(?)" "p.(Val807=)" "" "0000341670" "00003702" "10" "304" "0" "304" "0" "c.304C>G" "r.(?)" "p.(Arg102Gly)" "" "0000342025" "00003702" "90" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161Trp)" "" "0000345439" "00003702" "30" "1407" "0" "1407" "0" "c.1407G>C" "r.(?)" "p.(Glu469Asp)" "" "0000345668" "00003702" "30" "3671" "0" "3671" "0" "c.3671G>A" "r.(?)" "p.(Gly1224Asp)" "" "0000347356" "00003702" "50" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.(Leu9Pro)" "" "0000348350" "00003702" "50" "875" "0" "875" "0" "c.875C>A" "r.(?)" "p.(Pro292Gln)" "" "0000348373" "00003702" "10" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Pro314Leu)" "" "0000350008" "00003702" "30" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(Tyr261=)" "" "0000350336" "00003702" "70" "4973" "0" "4973" "0" "c.4973T>C" "r.(?)" "p.(Val1658Ala)" "" "0000351335" "00003702" "10" "3391" "-4" "3391" "-4" "c.3391-4T>C" "r.spl?" "p.?" "" "0000568644" "00003702" "50" "4906" "0" "4906" "0" "c.4906G>C" "r.(?)" "p.(Glu1636Gln)" "" "0000568645" "00003702" "50" "4855" "0" "4855" "0" "c.4855A>C" "r.(?)" "p.(Ser1619Arg)" "" "0000568646" "00003702" "50" "4850" "3" "4850" "3" "c.4850+3G>A" "r.spl?" "p.?" "" "0000568648" "00003702" "30" "4635" "0" "4635" "0" "c.4635C>T" "r.(?)" "p.(Tyr1545=)" "" "0000568649" "00003702" "30" "4520" "0" "4520" "0" "c.4520G>A" "r.(?)" "p.(Arg1507His)" "" "0000568650" "00003702" "30" "4350" "6" "4350" "6" "c.4350+6G>C" "r.(=)" "p.(=)" "" "0000568651" "00003702" "30" "4121" "-7" "4121" "-7" "c.4121-7T>C" "r.(=)" "p.(=)" "" "0000568652" "00003702" "50" "4108" "0" "4108" "0" "c.4108G>A" "r.(?)" "p.(Ala1370Thr)" "" "0000568653" "00003702" "30" "3855" "0" "3855" "0" "c.3855C>T" "r.(?)" "p.(Asp1285=)" "" "0000568654" "00003702" "10" "3753" "0" "3753" "0" "c.3753C>A" "r.(?)" "p.(Pro1251=)" "" "0000568655" "00003702" "50" "3432" "0" "3432" "0" "c.3432G>A" "r.(?)" "p.(Thr1144=)" "" "0000568656" "00003702" "30" "3357" "0" "3357" "0" "c.3357G>A" "r.(?)" "p.(Gln1119=)" "" "0000568657" "00003702" "30" "3216" "0" "3216" "0" "c.3216G>T" "r.(?)" "p.(Arg1072=)" "" "0000568658" "00003702" "30" "3216" "0" "3216" "0" "c.3216G>T" "r.(?)" "p.(Arg1072=)" "" "0000568659" "00003702" "30" "2901" "0" "2901" "0" "c.2901C>T" "r.(?)" "p.(Leu967=)" "" "0000568660" "00003702" "10" "2864" "-20" "2864" "-20" "c.2864-20A>G" "r.(=)" "p.(=)" "" "0000568661" "00003702" "30" "2355" "-19" "2355" "-19" "c.2355-19C>A" "r.(=)" "p.(=)" "" "0000568662" "00003702" "70" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Arg764Ter)" "" "0000568663" "00003702" "30" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Trp)" "" "0000568664" "00003702" "30" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Trp)" "" "0000568665" "00003702" "30" "2157" "0" "2157" "0" "c.2157G>A" "r.(?)" "p.(Ala719=)" "" "0000568666" "00003702" "30" "2067" "0" "2067" "0" "c.2067G>A" "r.(?)" "p.(Glu689=)" "" "0000568667" "00003702" "30" "2067" "0" "2067" "0" "c.2067G>A" "r.(?)" "p.(Glu689=)" "" "0000568668" "00003702" "30" "1976" "-19" "1976" "-19" "c.1976-19C>T" "r.(=)" "p.(=)" "" "0000568669" "00003702" "30" "1908" "0" "1908" "0" "c.1908C>T" "r.(?)" "p.(Ala636=)" "" "0000568670" "00003702" "30" "1653" "0" "1653" "0" "c.1653G>T" "r.(?)" "p.(Val551=)" "" "0000568671" "00003702" "30" "1558" "0" "1558" "0" "c.1558T>C" "r.(?)" "p.(Ser520Pro)" "" "0000568672" "00003702" "50" "1452" "0" "1452" "0" "c.1452G>A" "r.(?)" "p.(Glu484=)" "" "0000568673" "00003702" "30" "1352" "0" "1352" "0" "c.1352A>G" "r.(?)" "p.(Asn451Ser)" "" "0000568674" "00003702" "50" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(Ala407=)" "" "0000568675" "00003702" "90" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Arg315Ter)" "" "0000568676" "00003702" "30" "876" "19" "876" "19" "c.876+19G>A" "r.(=)" "p.(=)" "" "0000568677" "00003702" "10" "741" "0" "741" "0" "c.741C>T" "r.(?)" "p.(Asn247=)" "" "0000568678" "00003702" "30" "600" "-12" "600" "-12" "c.600-12C>T" "r.(=)" "p.(=)" "" "0000568679" "00003702" "30" "600" "-14" "600" "-14" "c.600-14C>T" "r.(=)" "p.(=)" "" "0000568680" "00003702" "30" "588" "0" "588" "0" "c.588G>A" "r.(?)" "p.(Pro196=)" "" "0000568681" "00003702" "30" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Val188Ile)" "" "0000568682" "00003702" "50" "463" "0" "463" "0" "c.463A>C" "r.(?)" "p.(Lys155Gln)" "" "0000568683" "00003702" "30" "463" "0" "463" "0" "c.463A>C" "r.(?)" "p.(Lys155Gln)" "" "0000568684" "00003702" "50" "304" "0" "304" "0" "c.304C>G" "r.(?)" "p.(Arg102Gly)" "" "0000568685" "00003702" "50" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.(Leu9Pro)" "" "0000568686" "00003702" "10" "-3" "0" "-2" "0" "c.-3_-2dup" "r.(?)" "p.(=)" "" "0000617918" "00003702" "30" "4850" "3" "4850" "3" "c.4850+3G>A" "r.spl?" "p.?" "" "0000617919" "00003702" "30" "4638" "0" "4638" "0" "c.4638G>A" "r.(?)" "p.(Lys1546=)" "" "0000617920" "00003702" "50" "4535" "0" "4535" "0" "c.4535G>A" "r.(?)" "p.(Arg1512His)" "" "0000617921" "00003702" "30" "4317" "0" "4317" "0" "c.4317C>T" "r.(?)" "p.(Ser1439=)" "" "0000617922" "00003702" "30" "4172" "19" "4172" "19" "c.4172+19G>A" "r.(=)" "p.(=)" "" "0000617923" "00003702" "30" "3970" "-8" "3970" "-8" "c.3970-8C>T" "r.(=)" "p.(=)" "" "0000617924" "00003702" "50" "3242" "0" "3242" "0" "c.3242A>G" "r.(?)" "p.(Tyr1081Cys)" "" "0000617925" "00003702" "30" "1614" "0" "1614" "0" "c.1614C>A" "r.(?)" "p.(Ile538=)" "" "0000617926" "00003702" "50" "1117" "0" "1117" "0" "c.1117A>G" "r.(?)" "p.(Met373Val)" "" "0000617927" "00003702" "50" "1098" "0" "1098" "0" "c.1098A>G" "r.(?)" "p.(Pro366=)" "" "0000617928" "00003702" "50" "1053" "0" "1053" "0" "c.1053T>C" "r.(?)" "p.(Ser351=)" "" "0000617929" "00003702" "30" "267" "17" "267" "17" "c.267+17G>A" "r.(=)" "p.(=)" "" "0000624097" "00003702" "30" "4635" "0" "4635" "0" "c.4635C>T" "r.(?)" "p.(Tyr1545=)" "" "0000624098" "00003702" "30" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Pro702Ser)" "" "0000624099" "00003702" "50" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462His)" "" "0000658675" "00003702" "50" "4906" "0" "4906" "0" "c.4906G>C" "r.(?)" "p.(Glu1636Gln)" "" "0000658676" "00003702" "30" "4645" "0" "4645" "0" "c.4645C>A" "r.(?)" "p.(Leu1549Met)" "" "0000658677" "00003702" "50" "4643" "0" "4643" "0" "c.4643G>A" "r.(?)" "p.(Arg1548Gln)" "" "0000658678" "00003702" "50" "4335" "0" "4335" "0" "c.4335C>G" "r.(?)" "p.(Ile1445Met)" "" "0000658679" "00003702" "30" "3279" "0" "3279" "0" "c.3279C>T" "r.(?)" "p.(Ile1093=)" "" "0000658680" "00003702" "30" "2951" "-5" "2951" "-5" "c.2951-5T>C" "r.spl?" "p.?" "" "0000658681" "00003702" "30" "2769" "0" "2769" "0" "c.2769C>T" "r.(?)" "p.(Asp923=)" "" "0000658682" "00003702" "70" "2675" "0" "2675" "0" "c.2675C>G" "r.(?)" "p.(Ser892Cys)" "" "0000658683" "00003702" "50" "2190" "0" "2190" "0" "c.2190C>T" "r.(?)" "p.(Tyr730=)" "" "0000658684" "00003702" "50" "1551" "0" "1551" "0" "c.1551G>A" "r.(?)" "p.(Leu517=)" "" "0000658685" "00003702" "30" "963" "0" "963" "0" "c.963G>A" "r.(?)" "p.(Gly321=)" "" "0000658686" "00003702" "30" "268" "-7" "268" "-7" "c.268-7C>T" "r.(=)" "p.(=)" "" "0000681528" "00003702" "50" "4878" "0" "4878" "0" "c.4878T>C" "r.(?)" "p.(Thr1626=)" "" "0000681529" "00003702" "30" "4855" "0" "4855" "0" "c.4855A>C" "r.(?)" "p.(Ser1619Arg)" "" "0000681530" "00003702" "30" "4645" "0" "4645" "0" "c.4645C>A" "r.(?)" "p.(Leu1549Met)" "" "0000681531" "00003702" "30" "3958" "0" "3958" "0" "c.3958C>A" "r.(?)" "p.(Arg1320=)" "" "0000681532" "00003702" "30" "3687" "0" "3687" "0" "c.3687C>T" "r.(?)" "p.(Asn1229=)" "" "0000681533" "00003702" "30" "1407" "0" "1407" "0" "c.1407G>T" "r.(?)" "p.(Glu469Asp)" "" "0000681534" "00003702" "50" "1401" "0" "1401" "0" "c.1401C>G" "r.(?)" "p.(Pro467=)" "" "0000681535" "00003702" "30" "1397" "0" "1397" "0" "c.1397G>T" "r.(?)" "p.(Arg466Ile)" "" "0000681536" "00003702" "50" "474" "0" "474" "0" "c.474C>G" "r.(?)" "p.(Pro158=)" "" "0000681537" "00003702" "30" "333" "0" "333" "0" "c.333C>T" "r.(?)" "p.(Thr111=)" "" "0000692897" "00003702" "50" "4745" "0" "4745" "0" "c.4745G>A" "r.(?)" "p.(Arg1582His)" "" "0000692898" "00003702" "50" "3760" "0" "3760" "0" "c.3760C>T" "r.(?)" "p.(Arg1254Cys)" "" "0000692899" "00003702" "50" "2363" "0" "2363" "0" "c.2363C>T" "r.(?)" "p.(Thr788Met)" "" "0000692900" "00003702" "50" "2157" "0" "2157" "0" "c.2157G>A" "r.(?)" "p.(Ala719=)" "" "0000692901" "00003702" "50" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(Pro388=)" "" "0000692902" "00003702" "30" "987" "0" "987" "0" "c.987C>T" "r.(?)" "p.(Thr329=)" "" "0000692903" "00003702" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Gly310Arg)" "" "0000692904" "00003702" "50" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Val301Met)" "" "0000692905" "00003702" "50" "691" "0" "691" "0" "c.691A>C" "r.(?)" "p.(Ser231Arg)" "" "0000692906" "00003702" "30" "599" "9" "599" "9" "c.599+9G>A" "r.(=)" "p.(=)" "" "0000692907" "00003702" "50" "75" "-11" "75" "-11" "c.75-11C>T" "r.(=)" "p.(=)" "" "0000727556" "00003702" "50" "4851" "-1" "4851" "-1" "c.4851-1G>T" "r.spl?" "p.?" "" "0000727557" "00003702" "50" "4767" "0" "4767" "0" "c.4767G>A" "r.(?)" "p.(Lys1589=)" "" "0000727558" "00003702" "30" "4457" "-5" "4457" "-5" "c.4457-5C>T" "r.spl?" "p.?" "" "0000727559" "00003702" "30" "4251" "0" "4251" "0" "c.4251C>T" "r.(?)" "p.(Asp1417=)" "" "0000727560" "00003702" "50" "4180" "0" "4180" "0" "c.4180G>A" "r.(?)" "p.(Gly1394Arg)" "" "0000727561" "00003702" "30" "2067" "0" "2067" "0" "c.2067G>A" "r.(?)" "p.(Glu689=)" "" "0000727562" "00003702" "30" "1908" "0" "1908" "0" "c.1908C>T" "r.(?)" "p.(Ala636=)" "" "0000727563" "00003702" "30" "1908" "0" "1908" "0" "c.1908C>T" "r.(?)" "p.(Ala636=)" "" "0000727564" "00003702" "50" "1855" "0" "1855" "0" "c.1855G>A" "r.(?)" "p.(Val619Met)" "" "0000727565" "00003702" "30" "600" "-12" "600" "-12" "c.600-12C>T" "r.(=)" "p.(=)" "" "0000727566" "00003702" "50" "463" "0" "463" "0" "c.463A>C" "r.(?)" "p.(Lys155Gln)" "" "0000727567" "00003702" "30" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Pro18Ser)" "" "0000734287" "00003702" "50" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Ser893Leu)" "" "0000763431" "00003702" "90" "2002" "0" "2002" "0" "c.2002del" "r.(?)" "p.(Arg668Alafs*36)" "16" "0000763432" "00003702" "90" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Arg764*)" "18" "0000763435" "00003702" "90" "3176" "0" "3176" "0" "c.3176dup" "r.(?)" "p.(Arg1060Glnfs*46)" "24" "0000763436" "00003702" "90" "3303" "0" "3303" "0" "c.3303C>G" "r.(?)" "p.(Cys1101Trp)" "26" "0000763437" "00003702" "90" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478*)" "12" "0000763438" "00003702" "90" "1120" "-2" "1120" "-2" "c.1120-2A>T" "r.spl?" "p.?" "9i" "0000764173" "00003702" "90" "169" "0" "170" "0" "c.169_170del" "r.(?)" "p.(Val57Tyrfs*15)" "2" "0000764174" "00003702" "90" "1118" "0" "1118" "0" "c.1118T>C" "r.(?)" "p.(Met373Thr)" "9" "0000764175" "00003702" "90" "4554" "0" "4554" "0" "c.4554C>G" "r.(?)" "p.(Cys1518Trp)" "38" "0000764176" "00003702" "90" "4554" "0" "4554" "0" "c.4554C>G" "r.(?)" "p.(Cys1518Trp)" "38" "0000809081" "00003702" "50" "2245" "15" "2245" "15" "c.2245+15G>A" "r.(=)" "p.(=)" "" "0000809082" "00003702" "30" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Trp)" "" "0000809083" "00003702" "30" "2184" "0" "2184" "0" "c.2184C>T" "r.(?)" "p.(Cys728=)" "" "0000809084" "00003702" "50" "1758" "0" "1758" "0" "c.1758G>A" "r.(?)" "p.(Glu586=)" "" "0000809085" "00003702" "30" "1480" "-4" "1480" "-4" "c.1480-4C>A" "r.spl?" "p.?" "" "0000809086" "00003702" "30" "1452" "0" "1452" "0" "c.1452G>A" "r.(?)" "p.(Glu484=)" "" "0000809087" "00003702" "30" "1449" "0" "1449" "0" "c.1449C>T" "r.(?)" "p.(His483=)" "" "0000809088" "00003702" "30" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.(Leu9Pro)" "" "0000832440" "00003702" "90" "4631" "-2" "4631" "-2" "c.4631-2A>G" "r.4631_4714del" "p.Val1544_Ser1571del" "38i" "0000832481" "00003702" "90" "2797" "-153" "2950" "398" "c.2797-153_2950+398del" "r.2797_2950del" "p.Pro933Glyfs*7" "21i_23i" "0000832517" "00003702" "90" "2797" "-153" "2950" "398" "c.2797-153_2950+398del" "r.(2797_2950del)" "p.(Pro933Glyfs*7)" "21i_23i" "0000832531" "00003702" "70" "1648" "0" "1648" "0" "c.1648T>C" "r.1648u>c" "p.Ser550Pro" "13" "0000832553" "00003702" "70" "2354" "1" "2354" "1" "c.2354+1G>A" "r.2294_2354del" "p.Ser765Lysfs*7" "18i" "0000855713" "00003702" "50" "4824" "0" "4824" "0" "c.4824C>T" "r.(?)" "p.(Ser1608=)" "" "0000855714" "00003702" "30" "4767" "0" "4767" "0" "c.4767G>A" "r.(?)" "p.(Lys1589=)" "" "0000855715" "00003702" "30" "4520" "0" "4520" "0" "c.4520G>A" "r.(?)" "p.(Arg1507His)" "" "0000855716" "00003702" "30" "4484" "0" "4484" "0" "c.4484C>T" "r.(?)" "p.(Pro1495Leu)" "" "0000855717" "00003702" "30" "4350" "6" "4350" "6" "c.4350+6G>C" "r.(=)" "p.(=)" "" "0000855718" "00003702" "30" "4113" "0" "4113" "0" "c.4113G>A" "r.(?)" "p.(Pro1371=)" "" "0000855719" "00003702" "50" "3688" "0" "3688" "0" "c.3688G>A" "r.(?)" "p.(Val1230Met)" "" "0000855720" "00003702" "30" "3152" "0" "3152" "0" "c.3152A>C" "r.(?)" "p.(Lys1051Thr)" "" "0000855721" "00003702" "30" "1976" "-19" "1976" "-19" "c.1976-19C>T" "r.(=)" "p.(=)" "" "0000855722" "00003702" "50" "1909" "0" "1909" "0" "c.1909G>C" "r.(?)" "p.(Gly637Arg)" "" "0000855724" "00003702" "30" "1161" "0" "1161" "0" "c.1161C>T" "r.(?)" "p.(Val387=)" "" "0000855725" "00003702" "30" "897" "0" "897" "0" "c.897G>A" "r.(?)" "p.(Glu299=)" "" "0000855726" "00003702" "30" "876" "19" "876" "19" "c.876+19G>A" "r.(=)" "p.(=)" "" "0000855727" "00003702" "30" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Glu279Lys)" "" "0000855728" "00003702" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Gln276*)" "" "0000855729" "00003702" "30" "606" "0" "606" "0" "c.606C>T" "r.(?)" "p.(Gly202=)" "" "0000855730" "00003702" "50" "95" "0" "95" "0" "c.95A>T" "r.(?)" "p.(Asn32Ile)" "" "0000866283" "00003702" "30" "4827" "0" "4827" "0" "c.4827C>T" "r.(?)" "p.(Ser1609=)" "" "0000866285" "00003702" "30" "2190" "0" "2190" "0" "c.2190C>T" "r.(?)" "p.(Tyr730=)" "" "0000866286" "00003702" "30" "1722" "0" "1722" "0" "c.1722G>A" "r.(?)" "p.(Gln574=)" "" "0000866287" "00003702" "30" "975" "0" "975" "0" "c.975C>T" "r.(?)" "p.(Tyr325=)" "" "0000866288" "00003702" "30" "876" "11" "876" "11" "c.876+11C>A" "r.(=)" "p.(=)" "" "0000866289" "00003702" "10" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(Tyr261=)" "" "0000866290" "00003702" "90" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161Trp)" "" "0000895155" "00003702" "50" "4635" "0" "4635" "0" "c.4635C>T" "r.(?)" "p.(Tyr1545=)" "" "0000895156" "00003702" "30" "4456" "19" "4456" "19" "c.4456+19G>A" "r.(=)" "p.(=)" "" "0000895157" "00003702" "30" "3958" "0" "3958" "0" "c.3958C>A" "r.(?)" "p.(Arg1320=)" "" "0000895158" "00003702" "10" "3671" "0" "3671" "0" "c.3671G>A" "r.(?)" "p.(Gly1224Asp)" "" "0000895159" "00003702" "30" "3495" "0" "3495" "0" "c.3495G>T" "r.(?)" "p.(Leu1165=)" "" "0000895160" "00003702" "50" "3431" "0" "3431" "0" "c.3431C>T" "r.(?)" "p.(Thr1144Met)" "" "0000895161" "00003702" "30" "2951" "-5" "2951" "-3" "c.2951-5_2951-3del" "r.spl?" "p.?" "" "0000895162" "00003702" "30" "2685" "0" "2685" "0" "c.2685C>T" "r.(?)" "p.(Ser895=)" "" "0000895163" "00003702" "30" "2354" "19" "2354" "19" "c.2354+19C>T" "r.(=)" "p.(=)" "" "0000895164" "00003702" "30" "1479" "4" "1479" "4" "c.1479+4C>T" "r.spl?" "p.?" "" "0000895165" "00003702" "30" "1407" "0" "1407" "0" "c.1407G>C" "r.(?)" "p.(Glu469Asp)" "" "0000895166" "00003702" "30" "773" "20" "773" "20" "c.773+20G>A" "r.(=)" "p.(=)" "" "0000895167" "00003702" "50" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Glu233Lys)" "" "0000895168" "00003702" "30" "599" "15" "599" "15" "c.599+15T>C" "r.(=)" "p.(=)" "" "0000895169" "00003702" "30" "267" "10" "267" "10" "c.267+10G>T" "r.(=)" "p.(=)" "" "0000896982" "00003702" "90" "905" "0" "905" "0" "c.905T>C" "r.(?)" "p.(Leu302Pro)" "9" "0000897871" "00003702" "90" "973" "0" "973" "0" "c.973T>C" "r.(?)" "p.(Tyr325His)" "9" "0000897872" "00003702" "90" "977" "0" "977" "0" "c.977T>C" "r.(?)" "p.(Val326Ala)" "9" "0000897873" "00003702" "90" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(Ser327Pro)" "9" "0000897874" "00003702" "90" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Val330Ile)" "9" "0000915295" "00003702" "30" "4855" "0" "4855" "0" "c.4855A>C" "r.(?)" "p.(Ser1619Arg)" "" "0000915296" "00003702" "70" "4851" "-1" "4851" "-1" "c.4851-1G>T" "r.spl?" "p.?" "" "0000915297" "00003702" "30" "4767" "0" "4767" "0" "c.4767G>A" "r.(?)" "p.(Lys1589=)" "" "0000915298" "00003702" "50" "4547" "0" "4547" "0" "c.4547A>C" "r.(?)" "p.(Glu1516Ala)" "" "0000915299" "00003702" "10" "4457" "-5" "4457" "-5" "c.4457-5C>T" "r.spl?" "p.?" "" "0000915300" "00003702" "30" "4172" "19" "4172" "19" "c.4172+19G>A" "r.(=)" "p.(=)" "" "0000915301" "00003702" "50" "2494" "0" "2494" "0" "c.2494G>A" "r.(?)" "p.(Asp832Asn)" "" "0000915302" "00003702" "50" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Trp)" "" "0000915303" "00003702" "30" "1479" "13" "1479" "13" "c.1479+13C>G" "r.(=)" "p.(=)" "" "0000915304" "00003702" "30" "1352" "0" "1352" "0" "c.1352A>G" "r.(?)" "p.(Asn451Ser)" "" "0000915305" "00003702" "70" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425Cys)" "" "0000915306" "00003702" "50" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425Cys)" "" "0000915307" "00003702" "30" "1119" "15" "1119" "15" "c.1119+15G>A" "r.(=)" "p.(=)" "" "0000915308" "00003702" "50" "768" "0" "768" "0" "c.768C>T" "r.(?)" "p.(Thr256=)" "" "0000926949" "00003702" "30" "4824" "0" "4824" "0" "c.4824C>T" "r.(?)" "p.(Ser1608=)" "" "0000926950" "00003702" "90" "4440" "0" "4440" "0" "c.4440C>A" "r.(?)" "p.(Tyr1480*)" "" "0000926951" "00003702" "50" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Ala437Thr)" "" "0000926952" "00003702" "30" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Val301Met)" "" "0000926953" "00003702" "30" "510" "0" "510" "0" "c.510G>A" "r.(?)" "p.(Pro170=)" "" "0000931112" "00003702" "30" "4791" "0" "4791" "0" "c.4791G>A" "r.(?)" "p.(=)" "" "0000931113" "00003702" "30" "2589" "0" "2589" "0" "c.2589G>A" "r.(?)" "p.(=)" "" "0000931114" "00003702" "50" "1910" "0" "1910" "0" "c.1910G>A" "r.(?)" "p.(Gly637Asp)" "" "0000931115" "00003702" "50" "1675" "0" "1675" "0" "c.1675T>C" "r.(?)" "p.(Cys559Arg)" "" "0000931116" "00003702" "30" "434" "-15" "434" "-15" "c.434-15T>C" "r.(=)" "p.(=)" "" "0000931117" "00003702" "70" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Gln126*)" "" "0000951366" "00003702" "30" "3741" "0" "3741" "0" "c.3741C>T" "r.(?)" "p.(=)" "" "0000951367" "00003702" "50" "2423" "0" "2423" "0" "c.2423G>A" "r.(?)" "p.(Ser808Asn)" "" "0000951368" "00003702" "30" "1920" "0" "1920" "0" "c.1920C>T" "r.(?)" "p.(=)" "" "0000970027" "00003702" "30" "3018" "0" "3018" "0" "c.3018C>T" "r.(?)" "p.(=)" "" "0000970028" "00003702" "50" "2534" "0" "2534" "0" "c.2534T>C" "r.(?)" "p.(Val845Ala)" "" "0000983690" "00003702" "50" "4369" "0" "4369" "0" "c.4369G>C" "r.(?)" "p.(Asp1457His)" "" "0000983691" "00003702" "50" "2701" "0" "2701" "0" "c.2701G>C" "r.(?)" "p.(Val901Leu)" "" "0000983692" "00003702" "50" "2266" "0" "2266" "0" "c.2266A>G" "r.(?)" "p.(Ile756Val)" "" "0000983693" "00003702" "30" "1898" "0" "1898" "0" "c.1898A>G" "r.(?)" "p.(Lys633Arg)" "" "0000983694" "00003702" "30" "1480" "-4" "1480" "-4" "c.1480-4C>A" "r.spl?" "p.?" "" "0000989835" "00003702" "90" "305" "0" "305" "0" "c.305dup" "r.(?)" "p.(Asn103Glnfs*66)" "3" "0000989836" "00003702" "90" "1269" "5" "1269" "5" "c.1269+5G>T" "r.spl?" "p.?" "11i" "0001005200" "00003702" "30" "4855" "0" "4855" "0" "c.4855A>C" "r.(?)" "p.(Ser1619Arg)" "" "0001005201" "00003702" "30" "3816" "0" "3816" "0" "c.3816C>T" "r.(?)" "p.(=)" "" "0001005202" "00003702" "50" "3152" "0" "3152" "0" "c.3152A>C" "r.(?)" "p.(Lys1051Thr)" "" "0001005203" "00003702" "50" "3068" "0" "3068" "0" "c.3068T>C" "r.(?)" "p.(Ile1023Thr)" "" "0001005204" "00003702" "30" "2842" "0" "2842" "0" "c.2842G>C" "r.(?)" "p.(Asp948His)" "" "0001015835" "00003702" "30" "4369" "0" "4369" "0" "c.4369G>C" "r.(?)" "p.(Asp1457His)" "" "0001015836" "00003702" "30" "2951" "-5" "2951" "-3" "c.2951-5_2951-3del" "r.spl?" "p.?" "" "0001015837" "00003702" "30" "2685" "0" "2685" "0" "c.2685C>T" "r.(?)" "p.(Ser895=)" "" "0001015838" "00003702" "30" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(=)" "" "0001027274" "00003702" "10" "4631" "-8" "4631" "-8" "c.4631-8C>T" "r.(=)" "p.(=)" "" "0001027275" "00003702" "30" "4030" "-4" "4030" "-4" "c.4030-4C>T" "r.spl?" "p.?" "" "0001027276" "00003702" "50" "2770" "0" "2770" "0" "c.2770G>A" "r.(?)" "p.(Gly924Ser)" "" "0001027277" "00003702" "50" "1835" "0" "1835" "0" "c.1835C>T" "r.(?)" "p.(Thr612Met)" "" "0001027278" "00003702" "50" "1058" "0" "1058" "0" "c.1058A>G" "r.(?)" "p.(Tyr353Cys)" "" "0001027279" "00003702" "50" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(=)" "" "0001043217" "00003702" "50" "3656" "0" "3656" "0" "c.3656G>A" "r.(?)" "p.(Arg1219His)" "" "0001043218" "00003702" "50" "2797" "-5" "2797" "-5" "c.2797-5C>T" "r.spl?" "p.?" "" "0001043219" "00003702" "30" "1449" "0" "1449" "0" "c.1449C>T" "r.(?)" "p.(His483=)" "" "0001043220" "00003702" "50" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.(Leu9Pro)" "" "0001046758" "00003702" "30" "2950" "399" "2950" "399" "c.2950+399G>A" "r.(=)" "p.(=)" "" "0001046759" "00003702" "30" "2394" "0" "2394" "0" "c.2394C>T" "r.(?)" "p.(Ser798=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000335624" "0000734287" "0000363027" "0000763431" "0000363027" "0000763432" "0000363028" "0000763435" "0000363028" "0000763436" "0000363029" "0000763437" "0000363029" "0000763438" "0000363484" "0000764173" "0000363485" "0000764174" "0000363486" "0000764176" "0000363487" "0000764175" "0000399808" "0000832440" "0000399809" "0000832481" "0000399869" "0000832517" "0000399878" "0000832531" "0000399891" "0000832553" "0000422093" "0000896982" "0000422717" "0000897871" "0000422718" "0000897872" "0000422719" "0000897873" "0000422720" "0000897874" "0000454898" "0000989835" "0000454898" "0000989836"