### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALPK3) # 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}}" "ALPK3" "alpha-kinase 3" "15" "q25.2" "unknown" "NC_000015.9" "UD_132378463591" "" "https://www.LOVD.nl/ALPK3" "" "1" "17574" "57538" "617608" "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/ALPK3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-21 13:38:06" "00000" "2026-01-20 18:57:21" ## 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}}" "00002406" "ALPK3" "alpha-kinase 3" "001" "NM_020778.4" "" "NP_065829.3" "" "" "" "-167" "10750" "5724" "85359911" "85416713" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "05552" "CMH27" "cardiomyopathy, hypertrophic, familial, type 27 (CMH-27)" "AR" "618052" "" "autosomal recessive" "" "00006" "2019-01-22 14:56:50" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ALPK3" "05552" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00291312" "" "" "" "61" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291313" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291315" "" "" "" "41" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304484" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00417643" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00418363" "" "" "" "1" "" "00006" "{PMID:Carlston 2019:30773818}" "2 generation family, 1 affected, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "patient" "00453150" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam334Pat368" "00453162" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam415Pat448" "00460933" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00291312" "00198" "00291313" "00198" "00291315" "00198" "00304484" "00198" "00417643" "00351" "00418363" "00139" "00453150" "04172" "00453162" "04172" "00460933" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00351, 04172, 05552 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000309732" "00139" "00418363" "00006" "Familial, X-linked recessive" "02y" "see paper; ..., developmental delay, relative macrocephaly, dilated cardiomyopathy with LVNC and Ebstein anomaly.; MRI brain thick corpus callosum, mild Chiari I malformation, flattened pituitary" "" "" "" "" "" "" "" "" "MRXS34" "intellectual disability" "" "0000341796" "04172" "00453150" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341808" "04172" "00453162" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292480" "00291312" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292481" "00291313" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292483" "00291315" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305613" "00304484" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000418937" "00417643" "1" "04384" "04384" "2022-09-21 10:07:02" "" "" "SEQ-NG" "DNA" "" "" "0000419659" "00418363" "1" "00006" "00006" "2022-09-28 20:45:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454761" "00453150" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454773" "00453162" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000462565" "00460933" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000418937" "ALPK3" "0000462565" "ALPK3" ## 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 = 611 "{{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}}" "0000247302" "0" "10" "15" "85401331" "85401331" "subst" "0.00206609" "02330" "ALPK3_000008" "g.85401331A>G" "" "" "" "ALPK3(NM_020778.4):c.3968A>G (p.Q1323R), ALPK3(NM_020778.5):c.3362A>G (p.Q1121R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858100A>G" "" "benign" "" "0000247303" "0" "10" "15" "85383709" "85383709" "subst" "0.0211284" "02330" "ALPK3_000073" "g.85383709A>G" "" "" "" "ALPK3(NM_020778.4):c.1805A>G (p.Q602R), ALPK3(NM_020778.5):c.1199A>G (p.Q400R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840478A>G" "" "benign" "" "0000247304" "0" "10" "15" "85400146" "85400146" "subst" "0.00467529" "02330" "ALPK3_000089" "g.85400146A>G" "" "" "" "ALPK3(NM_020778.4):c.2783A>G (p.Q928R, p.(Gln928Arg)), ALPK3(NM_020778.5):c.2177A>G (p.Q726R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84856915A>G" "" "benign" "" "0000247307" "0" "10" "15" "85401593" "85401593" "subst" "0.000297002" "02330" "ALPK3_000015" "g.85401593A>G" "" "" "" "ALPK3(NM_020778.4):c.4230A>G (p.P1410=), ALPK3(NM_020778.5):c.3624A>G (p.P1208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858362A>G" "" "benign" "" "0000247322" "0" "90" "15" "85406127" "85406127" "del" "0" "02330" "ALPK3_000034" "g.85406127del" "" "" "" "ALPK3(NM_020778.4):c.4997delA (p.N1666Tfs*14), ALPK3(NM_020778.5):c.4391delA (p.N1464Tfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84862896del" "" "pathogenic" "" "0000247335" "0" "10" "15" "85360271" "85360271" "subst" "0.0136639" "02330" "ALPK3_000048" "g.85360271A>G" "" "" "" "ALPK3(NM_020778.5):c.-413A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817040A>G" "" "benign" "" "0000247340" "0" "10" "15" "85383394" "85383394" "subst" "0.0010122" "02330" "ALPK3_000069" "g.85383394A>G" "" "" "" "ALPK3(NM_020778.4):c.1490A>G (p.Y497C), ALPK3(NM_020778.5):c.884A>G (p.Y295C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840163A>G" "" "benign" "" "0000247354" "0" "50" "15" "85407828" "85407828" "subst" "4.06055E-6" "02330" "ALPK3_000038" "g.85407828A>C" "" "" "" "ALPK3(NM_020778.5):c.4655A>C (p.K1552T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84864597A>C" "" "VUS" "" "0000248123" "0" "30" "15" "85400231" "85400231" "subst" "0.00040621" "02325" "ALPK3_000007" "g.85400231A>G" "" "" "" "ALPK3(NM_020778.4):c.2868A>G (p.E956=), ALPK3(NM_020778.5):c.2262A>G (p.E754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857000A>G" "" "likely benign" "" "0000249472" "0" "30" "15" "85383814" "85383814" "subst" "3.38034E-5" "02325" "ALPK3_000074" "g.85383814A>G" "" "" "" "ALPK3(NM_020778.5):c.1304A>G (p.Q435R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840583A>G" "" "likely benign" "" "0000249616" "0" "90" "15" "85406127" "85406127" "del" "0" "02325" "ALPK3_000034" "g.85406127del" "" "" "" "ALPK3(NM_020778.4):c.4997delA (p.N1666Tfs*14), ALPK3(NM_020778.5):c.4391delA (p.N1464Tfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84862896del" "" "pathogenic" "" "0000253381" "0" "10" "15" "85401331" "85401331" "subst" "0.00206609" "01943" "ALPK3_000008" "g.85401331A>G" "" "" "" "ALPK3(NM_020778.4):c.3968A>G (p.Q1323R), ALPK3(NM_020778.5):c.3362A>G (p.Q1121R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858100A>G" "" "benign" "" "0000253385" "0" "10" "15" "85383709" "85383709" "subst" "0.0211284" "01943" "ALPK3_000073" "g.85383709A>G" "" "" "" "ALPK3(NM_020778.4):c.1805A>G (p.Q602R), ALPK3(NM_020778.5):c.1199A>G (p.Q400R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840478A>G" "" "benign" "" "0000253386" "0" "10" "15" "85400146" "85400146" "subst" "0.00467529" "01943" "ALPK3_000089" "g.85400146A>G" "" "" "" "ALPK3(NM_020778.4):c.2783A>G (p.Q928R, p.(Gln928Arg)), ALPK3(NM_020778.5):c.2177A>G (p.Q726R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84856915A>G" "" "benign" "" "0000254113" "0" "30" "15" "85400231" "85400231" "subst" "0.00040621" "01943" "ALPK3_000007" "g.85400231A>G" "" "" "" "ALPK3(NM_020778.4):c.2868A>G (p.E956=), ALPK3(NM_020778.5):c.2262A>G (p.E754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857000A>G" "" "likely benign" "" "0000254143" "0" "30" "15" "85401593" "85401593" "subst" "0.000297002" "01943" "ALPK3_000015" "g.85401593A>G" "" "" "" "ALPK3(NM_020778.4):c.4230A>G (p.P1410=), ALPK3(NM_020778.5):c.3624A>G (p.P1208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858362A>G" "" "likely benign" "" "0000255560" "0" "90" "15" "85406127" "85406127" "del" "0" "01943" "ALPK3_000035" "g.85406127del" "" "" "" "ALPK3(NM_020778.4):c.4997delA (p.N1666Tfs*14), ALPK3(NM_020778.5):c.4391delA (p.N1464Tfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84862896del" "" "pathogenic" "" "0000256462" "0" "50" "15" "85383179" "85383179" "subst" "0" "01943" "ALPK3_000005" "g.85383179A>T" "" "" "" "ALPK3(NM_020778.4):c.1275A>T (p.R425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84839948A>T" "" "VUS" "" "0000257613" "0" "10" "15" "85411692" "85411692" "subst" "0.291663" "02330" "ALPK3_000047" "g.85411692C>T" "" "" "" "ALPK3(NM_020778.4):c.*5C>T, ALPK3(NM_020778.5):c.*5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84868461C>T" "" "benign" "" "0000257614" "0" "10" "15" "85382307" "85382307" "subst" "0.0109635" "02330" "ALPK3_000063" "g.85382307G>A" "" "" "" "ALPK3(NM_020778.4):c.1007G>A (p.R336H), ALPK3(NM_020778.5):c.401G>A (p.R134H, p.(Arg134His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84839076G>A" "" "benign" "" "0000257615" "0" "10" "15" "85382914" "85382914" "del" "0" "02330" "ALPK3_000064" "g.85382914del" "" "" "" "ALPK3(NM_020778.4):c.1029-19delC, ALPK3(NM_020778.5):c.423-19delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84839683del" "" "benign" "" "0000257616" "0" "10" "15" "85383134" "85383134" "subst" "6.10565E-5" "02330" "ALPK3_000067" "g.85383134G>C" "" "" "" "ALPK3(NM_020778.4):c.1230G>C (p.G410=), ALPK3(NM_020778.5):c.624G>C (p.G208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84839903G>C" "" "benign" "" "0000257617" "0" "50" "15" "85383163" "85383163" "subst" "9.38929E-5" "02330" "ALPK3_000004" "g.85383163C>T" "" "" "" "ALPK3(NM_020778.5):c.653C>T (p.P218L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84839932C>T" "" "VUS" "" "0000257618" "0" "10" "15" "85383236" "85383236" "subst" "7.7551E-5" "02330" "ALPK3_000006" "g.85383236T>C" "" "" "" "ALPK3(NM_020778.4):c.1332T>C (p.P444=), ALPK3(NM_020778.5):c.726T>C (p.P242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840005T>C" "" "benign" "" "0000257619" "0" "30" "15" "85383448" "85383448" "subst" "0.00025247" "02330" "ALPK3_000070" "g.85383448G>A" "" "" "" "ALPK3(NM_020778.4):c.1544G>A (p.G515E), ALPK3(NM_020778.5):c.938G>A (p.G313E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840217G>A" "" "likely benign" "" "0000257620" "0" "10" "15" "85383458" "85383458" "subst" "0.000297406" "02330" "ALPK3_000071" "g.85383458G>A" "" "" "" "ALPK3(NM_020778.4):c.1554G>A (p.K518=), ALPK3(NM_020778.5):c.948G>A (p.K316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840227G>A" "" "benign" "" "0000257621" "0" "10" "15" "85383640" "85383640" "subst" "0.220171" "02330" "ALPK3_000072" "g.85383640G>A" "" "" "" "ALPK3(NM_020778.4):c.1736G>A (p.G579E), ALPK3(NM_020778.5):c.1130G>A (p.G377E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840409G>A" "" "benign" "" "0000257622" "0" "10" "15" "85383839" "85383839" "subst" "0.680209" "02330" "ALPK3_000075" "g.85383839G>A" "" "" "" "ALPK3(NM_020778.4):c.1935G>A (p.G645=), ALPK3(NM_020778.5):c.1329G>A (p.G443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840608G>A" "" "benign" "" "0000257623" "0" "10" "15" "85383932" "85383932" "subst" "5.33202E-5" "02330" "ALPK3_000077" "g.85383932G>A" "" "" "" "ALPK3(NM_020778.5):c.1422G>A (p.P474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840701G>A" "" "benign" "" "0000257624" "0" "50" "15" "85384099" "85384099" "subst" "4.49453E-5" "02330" "ALPK3_000079" "g.85384099G>A" "" "" "" "ALPK3(NM_020778.5):c.1589G>A (p.R530Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840868G>A" "" "VUS" "" "0000257625" "0" "50" "15" "85384169" "85384169" "subst" "2.47449E-5" "02330" "ALPK3_000080" "g.85384169T>G" "" "" "" "ALPK3(NM_020778.5):c.1653+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840938T>G" "" "VUS" "" "0000257626" "0" "10" "15" "85399645" "85399645" "subst" "0.00646574" "02330" "ALPK3_000081" "g.85399645C>T" "" "" "" "ALPK3(NM_020778.5):c.1676C>T (p.T559M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84856414C>T" "" "benign" "" "0000257627" "0" "50" "15" "85399654" "85399654" "subst" "4.15724E-6" "02330" "ALPK3_000082" "g.85399654C>G" "" "" "" "ALPK3(NM_020778.5):c.1685C>G (p.T562S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84856423C>G" "" "VUS" "" "0000257628" "0" "10" "15" "85399706" "85399706" "subst" "0.00115743" "02330" "ALPK3_000084" "g.85399706C>T" "" "" "" "ALPK3(NM_020778.5):c.1737C>T (p.S579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84856475C>T" "" "benign" "" "0000257629" "0" "50" "15" "85399797" "85399797" "subst" "1.62485E-5" "02330" "ALPK3_000085" "g.85399797G>A" "" "" "" "ALPK3(NM_020778.5):c.1828G>A (p.V610M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84856566G>A" "" "VUS" "" "0000257630" "0" "10" "15" "85360101" "85360101" "subst" "0.811497" "02330" "ALPK3_000001" "g.85360101T>C" "" "" "" "ALPK3(NM_020778.4):c.24T>C (p.Y8=), ALPK3(NM_020778.5):c.-583T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84816870T>C" "" "benign" "" "0000257631" "0" "50" "15" "85399951" "85399951" "subst" "9.34359E-5" "02330" "ALPK3_000086" "g.85399951T>A" "" "" "" "ALPK3(NM_020778.5):c.1982T>A (p.M661K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84856720T>A" "" "VUS" "" "0000257632" "0" "70" "15" "85399997" "85400000" "del" "0" "02330" "ALPK3_000087" "g.85399997_85400000del" "" "" "" "ALPK3(NM_020778.5):c.2028_2031delAGGT (p.G677Rfs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84856766_84856769del" "" "likely pathogenic" "" "0000257633" "0" "50" "15" "85400128" "85400128" "subst" "4.06554E-6" "02330" "ALPK3_000088" "g.85400128T>C" "" "" "" "ALPK3(NM_020778.5):c.2159T>C (p.M720T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84856897T>C" "" "VUS" "" "0000257634" "0" "10" "15" "85400336" "85400336" "subst" "0.00277622" "02330" "ALPK3_000091" "g.85400336T>C" "" "" "" "ALPK3(NM_020778.4):c.2973T>C (p.T991=), ALPK3(NM_020778.5):c.2367T>C (p.T789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857105T>C" "" "benign" "" "0000257635" "0" "10" "15" "85400499" "85400499" "subst" "0.00926801" "02330" "ALPK3_000092" "g.85400499C>T" "" "" "" "ALPK3(NM_020778.4):c.3136C>T (p.P1046S), ALPK3(NM_020778.5):c.2530C>T (p.P844S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857268C>T" "" "benign" "" "0000257636" "0" "10" "15" "85400564" "85400564" "subst" "0.00392372" "02330" "ALPK3_000093" "g.85400564C>T" "" "" "" "ALPK3(NM_020778.4):c.3201C>T (p.P1067=), ALPK3(NM_020778.5):c.2595C>T (p.P865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857333C>T" "" "benign" "" "0000257637" "0" "10" "15" "85400566" "85400566" "subst" "0.00111007" "02330" "ALPK3_000094" "g.85400566C>T" "" "" "" "ALPK3(NM_020778.4):c.3203C>T (p.T1068M), ALPK3(NM_020778.5):c.2597C>T (p.T866M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857335C>T" "" "benign" "" "0000257638" "0" "50" "15" "85400599" "85400599" "subst" "0" "02330" "ALPK3_000096" "g.85400599C>G" "" "" "" "ALPK3(NM_020778.5):c.2630C>G (p.A877G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857368C>G" "" "VUS" "" "0000257639" "0" "70" "15" "85400637" "85400637" "subst" "0" "02330" "ALPK3_000097" "g.85400637C>T" "" "" "" "ALPK3(NM_020778.5):c.2668C>T (p.Q890*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857406C>T" "" "likely pathogenic" "" "0000257640" "0" "10" "15" "85400643" "85400643" "subst" "0.000199448" "02330" "ALPK3_000098" "g.85400643G>A" "" "" "" "ALPK3(NM_020778.4):c.3280G>A (p.G1094R), ALPK3(NM_020778.5):c.2674G>A (p.G892R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857412G>A" "" "benign" "" "0000257641" "0" "50" "15" "85400670" "85400670" "subst" "9.78657E-5" "02330" "ALPK3_000099" "g.85400670G>A" "" "" "" "ALPK3(NM_020778.5):c.2701G>A (p.E901K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857439G>A" "" "VUS" "" "0000257642" "0" "10" "15" "85400780" "85400780" "subst" "0.0127019" "02330" "ALPK3_000100" "g.85400780C>G" "" "" "" "ALPK3(NM_020778.4):c.3417C>G (p.A1139=), ALPK3(NM_020778.5):c.2811C>G (p.A937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857549C>G" "" "benign" "" "0000257643" "0" "10" "15" "85400816" "85400816" "subst" "0" "02330" "ALPK3_000101" "g.85400816C>T" "" "" "" "ALPK3(NM_020778.5):c.2847C>T (p.P949=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857585C>T" "" "benign" "" "0000257644" "0" "70" "15" "85400858" "85400858" "subst" "0" "02330" "ALPK3_000102" "g.85400858C>G" "" "" "" "ALPK3(NM_020778.5):c.2889C>G (p.Y963*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857627C>G" "" "likely pathogenic" "" "0000257645" "0" "50" "15" "85401007" "85401007" "subst" "0.0001551" "02330" "ALPK3_000104" "g.85401007G>A" "" "" "" "ALPK3(NM_020778.4):c.3644G>A (p.R1215H), ALPK3(NM_020778.5):c.3038G>A (p.R1013H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857776G>A" "" "VUS" "" "0000257646" "0" "50" "15" "85360445" "85360445" "subst" "0" "02330" "ALPK3_000049" "g.85360445C>T" "" "" "" "ALPK3(NM_020778.4):c.368C>T (p.P123L), ALPK3(NM_020778.5):c.-239C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817214C>T" "" "VUS" "" "0000257647" "0" "50" "15" "85401093" "85401093" "subst" "0.000140557" "02330" "ALPK3_000105" "g.85401093G>A" "" "" "" "ALPK3(NM_020778.5):c.3124G>A (p.G1042S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857862G>A" "" "VUS" "" "0000257648" "0" "10" "15" "85401259" "85401259" "subst" "0.757131" "02330" "ALPK3_000107" "g.85401259C>T" "" "" "" "ALPK3(NM_020778.4):c.3896C>T (p.P1299L), ALPK3(NM_020778.5):c.3290C>T (p.P1097L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858028C>T" "" "benign" "" "0000257649" "0" "10" "15" "85401370" "85401370" "subst" "0.000997995" "02330" "ALPK3_000009" "g.85401370C>T" "" "" "" "ALPK3(NM_020778.4):c.4007C>T (p.A1336V), ALPK3(NM_020778.5):c.3401C>T (p.A1134V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858139C>T" "" "benign" "" "0000257650" "0" "10" "15" "85401419" "85401419" "subst" "0.823767" "02330" "ALPK3_000010" "g.85401419T>C" "" "" "" "ALPK3(NM_020778.4):c.4056T>C (p.G1352=), ALPK3(NM_020778.5):c.3450T>C (p.G1150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858188T>C" "" "benign" "" "0000257652" "0" "10" "15" "85401597" "85401597" "subst" "0.0116535" "02330" "ALPK3_000016" "g.85401597C>T" "" "" "" "ALPK3(NM_020778.4):c.4234C>T (p.R1412W), ALPK3(NM_020778.5):c.3628C>T (p.R1210W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858366C>T" "" "benign" "" "0000257653" "0" "10" "15" "85401608" "85401608" "subst" "0" "02330" "ALPK3_000018" "g.85401608C>T" "" "" "" "ALPK3(NM_020778.5):c.3639C>T (p.R1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858377C>T" "" "benign" "" "0000257654" "0" "10" "15" "85401671" "85401671" "subst" "0.000248209" "02330" "ALPK3_000019" "g.85401671G>A" "" "" "" "ALPK3(NM_020778.4):c.4308G>A (p.A1436=), ALPK3(NM_020778.5):c.3702G>A (p.A1234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858440G>A" "" "benign" "" "0000257655" "0" "10" "15" "85401680" "85401680" "subst" "0.060178" "02330" "ALPK3_000020" "g.85401680C>T" "" "" "" "ALPK3(NM_020778.4):c.4317C>T (p.D1439=), ALPK3(NM_020778.5):c.3711C>T (p.D1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858449C>T" "" "benign" "" "0000257657" "0" "50" "15" "85402488" "85402488" "subst" "0.000215269" "02330" "ALPK3_000021" "g.85402488C>T" "" "" "" "ALPK3(NM_020778.4):c.4438C>T (p.R1480W), ALPK3(NM_020778.5):c.3832C>T (p.R1278W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859257C>T" "" "VUS" "" "0000257658" "0" "10" "15" "85402610" "85402610" "subst" "0.055411" "02330" "ALPK3_000022" "g.85402610G>A" "" "" "" "ALPK3(NM_020778.4):c.4560G>A (p.E1520=), ALPK3(NM_020778.5):c.3954G>A (p.E1318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859379G>A" "" "benign" "" "0000257659" "0" "10" "15" "85402632" "85402632" "subst" "0.00191321" "02330" "ALPK3_000023" "g.85402632G>A" "" "" "" "ALPK3(NM_020778.5):c.3965+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859401G>A" "" "benign" "" "0000257660" "0" "50" "15" "85403027" "85403027" "subst" "4.92445E-5" "02330" "ALPK3_000024" "g.85403027C>T" "" "" "" "ALPK3(NM_020778.5):c.3986C>T (p.A1329V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859796C>T" "" "VUS" "" "0000257661" "0" "50" "15" "85360539" "85360539" "subst" "0" "02330" "ALPK3_000051" "g.85360539G>T" "" "" "" "ALPK3(NM_020778.5):c.-145G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817308G>T" "" "VUS" "" "0000257662" "0" "10" "15" "85403104" "85403104" "subst" "0.000406392" "02330" "ALPK3_000026" "g.85403104G>A" "" "" "" "ALPK3(NM_020778.5):c.4063G>A (p.A1355T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859873G>A" "" "benign" "" "0000257663" "0" "10" "15" "85403105" "85403105" "subst" "0.0164154" "02330" "ALPK3_000027" "g.85403105C>A" "" "" "" "ALPK3(NM_020778.4):c.4670C>A (p.A1557D), ALPK3(NM_020778.5):c.4064C>A (p.A1355D, p.(Ala1355Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859874C>A" "" "benign" "" "0000257664" "0" "50" "15" "85403113" "85403113" "subst" "0.000105688" "02330" "ALPK3_000028" "g.85403113G>A" "" "" "" "ALPK3(NM_020778.5):c.4072G>A (p.D1358N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859882G>A" "" "VUS" "" "0000257665" "0" "10" "15" "85403312" "85403312" "subst" "0" "02330" "ALPK3_000030" "g.85403312C>T" "" "" "" "ALPK3(NM_020778.5):c.4129+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84860081C>T" "" "benign" "" "0000257666" "0" "50" "15" "85405920" "85405920" "subst" "4.4678E-5" "02330" "ALPK3_000032" "g.85405920C>G" "" "" "" "ALPK3(NM_020778.5):c.4184C>G (p.S1395C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84862689C>G" "" "VUS" "" "0000257667" "0" "10" "15" "85405995" "85405995" "subst" "0.230435" "02330" "ALPK3_000033" "g.85405995T>C" "" "" "" "ALPK3(NM_020778.4):c.4865T>C (p.L1622P), ALPK3(NM_020778.5):c.4259T>C (p.L1420P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84862764T>C" "" "benign" "" "0000257668" "0" "10" "15" "85406134" "85406134" "subst" "4.06981E-5" "02330" "ALPK3_000036" "g.85406134C>T" "" "" "" "ALPK3(NM_020778.5):c.4398C>T (p.D1466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84862903C>T" "" "benign" "" "0000257669" "0" "50" "15" "85360601" "85360601" "subst" "0" "02330" "ALPK3_000052" "g.85360601C>G" "" "" "" "ALPK3(NM_020778.4):c.524C>G (p.A175G), ALPK3(NM_020778.5):c.-83C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817370C>G" "" "VUS" "" "0000257670" "0" "50" "15" "85411596" "85411596" "subst" "5.28679E-5" "02330" "ALPK3_000042" "g.85411596C>G" "" "" "" "ALPK3(NM_020778.5):c.5027C>G (p.A1676G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84868365C>G" "" "VUS" "" "0000257671" "0" "10" "15" "85411633" "85411633" "subst" "0.000130757" "02330" "ALPK3_000043" "g.85411633G>A" "" "" "" "ALPK3(NM_020778.4):c.5670G>A (p.L1890=), ALPK3(NM_020778.5):c.5064G>A (p.L1688=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84868402G>A" "" "benign" "" "0000257672" "0" "10" "15" "85411660" "85411660" "subst" "0.000608001" "02330" "ALPK3_000044" "g.85411660G>A" "" "" "" "ALPK3(NM_020778.4):c.5697G>A (p.E1899=), ALPK3(NM_020778.5):c.5091G>A (p.E1697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84868429G>A" "" "benign" "" "0000257673" "0" "10" "15" "85411669" "85411669" "subst" "0" "02330" "ALPK3_000045" "g.85411669G>A" "" "" "" "ALPK3(NM_020778.4):c.5706G>A (p.K1902=), ALPK3(NM_020778.5):c.5100G>A (p.K1700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84868438G>A" "" "benign" "" "0000257674" "0" "50" "15" "85411677" "85411677" "subst" "0" "02330" "ALPK3_000046" "g.85411677G>A" "" "" "" "ALPK3(NM_020778.5):c.5108G>A (p.G1703D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84868446G>A" "" "VUS" "" "0000257675" "0" "10" "15" "85360662" "85360662" "subst" "0" "02330" "ALPK3_000053" "g.85360662G>A" "" "" "" "ALPK3(NM_020778.5):c.-22G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817431G>A" "" "benign" "" "0000257676" "0" "70" "15" "85360738" "85360738" "del" "0" "02330" "ALPK3_000054" "g.85360738del" "" "" "" "ALPK3(NM_020778.5):c.55delG (p.A19Rfs*90)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817507del" "" "likely pathogenic" "" "0000257677" "0" "50" "15" "85360745" "85360745" "subst" "7.76619E-5" "02330" "ALPK3_000055" "g.85360745G>T" "" "" "" "ALPK3(NM_020778.4):c.668G>T (p.G223V), ALPK3(NM_020778.5):c.62G>T (p.G21V, p.(Gly21Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817514G>T" "" "VUS" "" "0000257678" "0" "50" "15" "85360781" "85360781" "subst" "0" "02330" "ALPK3_000056" "g.85360781G>A" "" "" "" "ALPK3(NM_020778.5):c.98G>A (p.S33N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817550G>A" "" "VUS" "" "0000257679" "0" "10" "15" "85360787" "85360787" "subst" "0.000978058" "02330" "ALPK3_000057" "g.85360787C>T" "" "" "" "ALPK3(NM_020778.4):c.710C>T (p.A237V), ALPK3(NM_020778.5):c.104C>T (p.A35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817556C>T" "" "benign" "" "0000257680" "0" "10" "15" "85360806" "85360806" "subst" "0.000275687" "02330" "ALPK3_000058" "g.85360806C>T" "" "" "" "ALPK3(NM_020778.4):c.729C>T (p.L243=), ALPK3(NM_020778.5):c.123C>T (p.L41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817575C>T" "" "benign" "" "0000257681" "0" "10" "15" "85366575" "85366575" "subst" "0.00421932" "02330" "ALPK3_000060" "g.85366575G>A" "" "" "" "ALPK3(NM_020778.4):c.764G>A (p.R255Q), ALPK3(NM_020778.5):c.158G>A (p.R53Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84823344G>A" "" "benign" "" "0000257682" "0" "10" "15" "85382193" "85382193" "subst" "0.671991" "02330" "ALPK3_000062" "g.85382193C>A" "" "" "" "ALPK3(NM_020778.4):c.911-18C>A, ALPK3(NM_020778.5):c.305-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84838962C>A" "" "benign" "" "0000258743" "0" "10" "15" "85400564" "85400564" "subst" "0.00392372" "02325" "ALPK3_000093" "g.85400564C>T" "" "" "" "ALPK3(NM_020778.4):c.3201C>T (p.P1067=), ALPK3(NM_020778.5):c.2595C>T (p.P865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857333C>T" "" "benign" "" "0000259472" "0" "30" "15" "85399657" "85399657" "subst" "2.89937E-5" "02325" "ALPK3_000083" "g.85399657T>C" "" "" "" "ALPK3(NM_020778.4):c.2294T>C (p.M765T), ALPK3(NM_020778.5):c.1688T>C (p.M563T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84856426T>C" "" "likely benign" "" "0000259473" "0" "30" "15" "85400192" "85400192" "subst" "0.000471242" "02325" "ALPK3_000090" "g.85400192C>T" "" "" "" "ALPK3(NM_020778.4):c.2829C>T (p.L943=), ALPK3(NM_020778.5):c.2223C>T (p.L741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84856961C>T" "" "likely benign" "" "0000259474" "0" "30" "15" "85403097" "85403097" "subst" "0.000337311" "02325" "ALPK3_000025" "g.85403097C>T" "" "" "" "ALPK3(NM_020778.4):c.4662C>T (p.H1554=), ALPK3(NM_020778.5):c.4056C>T (p.H1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859866C>T" "" "likely benign" "" "0000259597" "0" "50" "15" "85401007" "85401007" "subst" "0.0001551" "02325" "ALPK3_000104" "g.85401007G>A" "" "" "" "ALPK3(NM_020778.4):c.3644G>A (p.R1215H), ALPK3(NM_020778.5):c.3038G>A (p.R1013H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857776G>A" "" "VUS" "" "0000259598" "0" "50" "15" "85402488" "85402488" "subst" "0.000215269" "02325" "ALPK3_000021" "g.85402488C>T" "" "" "" "ALPK3(NM_020778.4):c.4438C>T (p.R1480W), ALPK3(NM_020778.5):c.3832C>T (p.R1278W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859257C>T" "" "VUS" "" "0000259640" "0" "50" "15" "85382938" "85382938" "subst" "0" "02325" "ALPK3_000066" "g.85382938G>A" "" "" "" "ALPK3(NM_020778.5):c.428G>A (p.R143Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84839707G>A" "" "VUS" "" "0000259641" "0" "50" "15" "85383151" "85383151" "subst" "0" "02325" "ALPK3_000068" "g.85383151G>C" "" "" "" "ALPK3(NM_020778.5):c.641G>C (p.R214P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84839920G>C" "" "VUS" "" "0000259642" "0" "50" "15" "85401454" "85401454" "subst" "6.69921E-5" "02325" "ALPK3_000011" "g.85401454G>C" "" "" "" "ALPK3(NM_020778.5):c.3485G>C (p.G1162A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858223G>C" "" "VUS" "" "0000259643" "0" "50" "15" "85401598" "85401598" "subst" "4.61516E-5" "02325" "ALPK3_000017" "g.85401598G>A" "" "" "" "ALPK3(NM_020778.5):c.3629G>A (p.R1210Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858367G>A" "" "VUS" "" "0000259746" "0" "90" "15" "85405865" "85405865" "subst" "1.23886E-5" "02325" "ALPK3_000031" "g.85405865G>A" "" "" "" "ALPK3(NM_020778.4):c.4736-1G>A, ALPK3(NM_020778.5):c.4130-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84862634G>A" "" "pathogenic" "" "0000262327" "0" "10" "15" "85411692" "85411692" "subst" "0.291663" "01943" "ALPK3_000047" "g.85411692C>T" "" "" "" "ALPK3(NM_020778.4):c.*5C>T, ALPK3(NM_020778.5):c.*5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84868461C>T" "" "benign" "" "0000262328" "0" "10" "15" "85382307" "85382307" "subst" "0.0109635" "01943" "ALPK3_000063" "g.85382307G>A" "" "" "" "ALPK3(NM_020778.4):c.1007G>A (p.R336H), ALPK3(NM_020778.5):c.401G>A (p.R134H, p.(Arg134His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84839076G>A" "" "benign" "" "0000262329" "0" "30" "15" "85382914" "85382914" "del" "0" "01943" "ALPK3_000065" "g.85382914del" "" "" "" "ALPK3(NM_020778.4):c.1029-19delC, ALPK3(NM_020778.5):c.423-19delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84839683del" "" "likely benign" "" "0000262330" "0" "10" "15" "85383640" "85383640" "subst" "0.220171" "01943" "ALPK3_000072" "g.85383640G>A" "" "" "" "ALPK3(NM_020778.4):c.1736G>A (p.G579E), ALPK3(NM_020778.5):c.1130G>A (p.G377E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840409G>A" "" "benign" "" "0000262331" "0" "10" "15" "85360252" "85360252" "subst" "0.00138413" "01943" "ALPK3_000002" "g.85360252C>G" "" "" "" "ALPK3(NM_020778.4):c.175C>G (p.R59G, p.(Arg59Gly)), ALPK3(NM_020778.5):c.-432C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817021C>G" "" "benign" "" "0000262332" "0" "50" "15" "85360253" "85360253" "subst" "2.49549E-5" "01943" "ALPK3_000003" "g.85360253G>T" "" "" "" "ALPK3(NM_020778.4):c.176G>T (p.R59L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817022G>T" "" "VUS" "" "0000262333" "0" "10" "15" "85383839" "85383839" "subst" "0.680209" "01943" "ALPK3_000075" "g.85383839G>A" "" "" "" "ALPK3(NM_020778.4):c.1935G>A (p.G645=), ALPK3(NM_020778.5):c.1329G>A (p.G443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840608G>A" "" "benign" "" "0000262334" "0" "30" "15" "85383892" "85383892" "subst" "0.00104445" "01943" "ALPK3_000076" "g.85383892G>A" "" "" "" "ALPK3(NM_020778.4):c.1988G>A (p.G663D), ALPK3(NM_020778.5):c.1382G>A (p.G461D, p.(Gly461Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840661G>A" "" "likely benign" "" "0000262335" "0" "10" "15" "85384032" "85384032" "subst" "0.00115342" "01943" "ALPK3_000078" "g.85384032T>G" "" "" "" "ALPK3(NM_020778.4):c.2128T>G (p.C710G), ALPK3(NM_020778.5):c.1522T>G (p.C508G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84840801T>G" "" "benign" "" "0000262336" "0" "10" "15" "85360101" "85360101" "subst" "0.811497" "01943" "ALPK3_000001" "g.85360101T>C" "" "" "" "ALPK3(NM_020778.4):c.24T>C (p.Y8=), ALPK3(NM_020778.5):c.-583T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84816870T>C" "" "benign" "" "0000262337" "0" "30" "15" "85400336" "85400336" "subst" "0.00277622" "01943" "ALPK3_000091" "g.85400336T>C" "" "" "" "ALPK3(NM_020778.4):c.2973T>C (p.T991=), ALPK3(NM_020778.5):c.2367T>C (p.T789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857105T>C" "" "likely benign" "" "0000262338" "0" "10" "15" "85400499" "85400499" "subst" "0.00926801" "01943" "ALPK3_000092" "g.85400499C>T" "" "" "" "ALPK3(NM_020778.4):c.3136C>T (p.P1046S), ALPK3(NM_020778.5):c.2530C>T (p.P844S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857268C>T" "" "benign" "" "0000262339" "0" "30" "15" "85400564" "85400564" "subst" "0.00392372" "01943" "ALPK3_000093" "g.85400564C>T" "" "" "" "ALPK3(NM_020778.4):c.3201C>T (p.P1067=), ALPK3(NM_020778.5):c.2595C>T (p.P865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857333C>T" "" "likely benign" "" "0000262340" "0" "30" "15" "85400567" "85400567" "subst" "3.25343E-5" "01943" "ALPK3_000095" "g.85400567G>C" "" "" "" "ALPK3(NM_020778.4):c.3204G>C (p.T1068=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857336G>C" "" "likely benign" "" "0000262341" "0" "50" "15" "85401006" "85401006" "subst" "3.6732E-5" "01943" "ALPK3_000103" "g.85401006C>T" "" "" "" "ALPK3(NM_020778.4):c.3643C>T (p.R1215C), ALPK3(NM_020778.5):c.3037C>T (p.R1013C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857775C>T" "" "VUS" "" "0000262342" "0" "50" "15" "85401007" "85401007" "subst" "0.0001551" "01943" "ALPK3_000104" "g.85401007G>A" "" "" "" "ALPK3(NM_020778.4):c.3644G>A (p.R1215H), ALPK3(NM_020778.5):c.3038G>A (p.R1013H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857776G>A" "" "VUS" "" "0000262343" "0" "90" "15" "85401144" "85401144" "subst" "3.40113E-5" "01943" "ALPK3_000106" "g.85401144C>T" "" "" "" "ALPK3(NM_020778.4):c.3781C>T (p.R1261*), ALPK3(NM_020778.5):c.3175C>T (p.R1059*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84857913C>T" "" "pathogenic" "" "0000262344" "0" "10" "15" "85401259" "85401259" "subst" "0.757131" "01943" "ALPK3_000107" "g.85401259C>T" "" "" "" "ALPK3(NM_020778.4):c.3896C>T (p.P1299L), ALPK3(NM_020778.5):c.3290C>T (p.P1097L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858028C>T" "" "benign" "" "0000262345" "0" "10" "15" "85401419" "85401419" "subst" "0.823767" "01943" "ALPK3_000010" "g.85401419T>C" "" "" "" "ALPK3(NM_020778.4):c.4056T>C (p.G1352=), ALPK3(NM_020778.5):c.3450T>C (p.G1150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858188T>C" "" "benign" "" "0000262346" "0" "30" "15" "85401500" "85401500" "subst" "0.000127065" "01943" "ALPK3_000012" "g.85401500C>T" "" "" "" "ALPK3(NM_020778.4):c.4137C>T (p.D1379=), ALPK3(NM_020778.5):c.3531C>T (p.D1177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858269C>T" "" "likely benign" "" "0000262347" "0" "50" "15" "85401550" "85401550" "subst" "9.9722E-5" "01943" "ALPK3_000014" "g.85401550G>A" "" "" "" "ALPK3(NM_020778.4):c.4187G>A (p.R1396Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858319G>A" "" "VUS" "" "0000262348" "0" "10" "15" "85401680" "85401680" "subst" "0.060178" "01943" "ALPK3_000020" "g.85401680C>T" "" "" "" "ALPK3(NM_020778.4):c.4317C>T (p.D1439=), ALPK3(NM_020778.5):c.3711C>T (p.D1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84858449C>T" "" "benign" "" "0000262349" "0" "50" "15" "85402488" "85402488" "subst" "0.000215269" "01943" "ALPK3_000021" "g.85402488C>T" "" "" "" "ALPK3(NM_020778.4):c.4438C>T (p.R1480W), ALPK3(NM_020778.5):c.3832C>T (p.R1278W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859257C>T" "" "VUS" "" "0000262350" "0" "10" "15" "85402610" "85402610" "subst" "0.055411" "01943" "ALPK3_000022" "g.85402610G>A" "" "" "" "ALPK3(NM_020778.4):c.4560G>A (p.E1520=), ALPK3(NM_020778.5):c.3954G>A (p.E1318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859379G>A" "" "benign" "" "0000262351" "0" "30" "15" "85403097" "85403097" "subst" "0.000337311" "01943" "ALPK3_000025" "g.85403097C>T" "" "" "" "ALPK3(NM_020778.4):c.4662C>T (p.H1554=), ALPK3(NM_020778.5):c.4056C>T (p.H1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859866C>T" "" "likely benign" "" "0000262352" "0" "10" "15" "85403105" "85403105" "subst" "0.0164154" "01943" "ALPK3_000027" "g.85403105C>A" "" "" "" "ALPK3(NM_020778.4):c.4670C>A (p.A1557D), ALPK3(NM_020778.5):c.4064C>A (p.A1355D, p.(Ala1355Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859874C>A" "" "benign" "" "0000262353" "0" "30" "15" "85403149" "85403149" "subst" "0.000280826" "01943" "ALPK3_000029" "g.85403149C>T" "" "" "" "ALPK3(NM_020778.4):c.4699+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84859918C>T" "" "likely benign" "" "0000262354" "0" "10" "15" "85405995" "85405995" "subst" "0.230435" "01943" "ALPK3_000033" "g.85405995T>C" "" "" "" "ALPK3(NM_020778.4):c.4865T>C (p.L1622P), ALPK3(NM_020778.5):c.4259T>C (p.L1420P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84862764T>C" "" "benign" "" "0000262355" "0" "50" "15" "85407722" "85407722" "subst" "0" "01943" "ALPK3_000037" "g.85407722G>C" "" "" "" "ALPK3(NM_020778.4):c.5155G>C (p.A1719P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84864491G>C" "" "VUS" "" "0000262356" "0" "50" "15" "85411377" "85411377" "subst" "7.75827E-5" "01943" "ALPK3_000039" "g.85411377T>C" "" "" "" "ALPK3(NM_020778.4):c.5414T>C (p.L1805P, p.(Leu1805Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84868146T>C" "" "VUS" "" "0000262358" "0" "30" "15" "85411567" "85411567" "subst" "8.53749E-5" "01943" "ALPK3_000041" "g.85411567C>T" "" "" "" "ALPK3(NM_020778.4):c.5604C>T (p.G1868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84868336C>T" "" "likely benign" "" "0000262359" "0" "30" "15" "85411633" "85411633" "subst" "0.000130757" "01943" "ALPK3_000043" "g.85411633G>A" "" "" "" "ALPK3(NM_020778.4):c.5670G>A (p.L1890=), ALPK3(NM_020778.5):c.5064G>A (p.L1688=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84868402G>A" "" "likely benign" "" "0000262360" "0" "30" "15" "85360818" "85360818" "subst" "0.000561325" "01943" "ALPK3_000059" "g.85360818C>T" "" "" "" "ALPK3(NM_020778.4):c.741C>T (p.P247=), ALPK3(NM_020778.5):c.135C>T (p.P45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84817587C>T" "" "likely benign" "" "0000262361" "0" "10" "15" "85366575" "85366575" "subst" "0.00421932" "01943" "ALPK3_000060" "g.85366575G>A" "" "" "" "ALPK3(NM_020778.4):c.764G>A (p.R255Q), ALPK3(NM_020778.5):c.158G>A (p.R53Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84823344G>A" "" "benign" "" "0000262362" "0" "50" "15" "85370756" "85370756" "subst" "0" "01943" "ALPK3_000061" "g.85370756C>A" "" "" "" "ALPK3(NM_020778.4):c.830C>A (p.T277N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84827525C>A" "" "VUS" "" "0000262363" "0" "10" "15" "85382193" "85382193" "subst" "0.671991" "01943" "ALPK3_000062" "g.85382193C>A" "" "" "" "ALPK3(NM_020778.4):c.911-18C>A, ALPK3(NM_020778.5):c.305-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84838962C>A" "" "benign" "" "0000324250" "0" "50" "15" "85370752" "85370754" "del" "0" "01804" "ALPK3_000118" "g.85370752_85370754del" "" "" "" "ALPK3(NM_020778.4):c.826_828delGAG (p.(Glu276del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84827521_84827523del" "" "VUS" "" "0000555662" "0" "50" "15" "85360231" "85360231" "subst" "0.000119947" "02330" "ALPK3_000108" "g.85360231C>T" "" "" "" "ALPK3(NM_020778.4):c.154C>T (p.P52S), ALPK3(NM_020778.5):c.-453C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817000C>T" "" "VUS" "" "0000555663" "0" "30" "15" "85360231" "85360231" "subst" "0.000119947" "01943" "ALPK3_000108" "g.85360231C>T" "" "" "" "ALPK3(NM_020778.4):c.154C>T (p.P52S), ALPK3(NM_020778.5):c.-453C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817000C>T" "" "likely benign" "" "0000555664" "0" "10" "15" "85360252" "85360252" "subst" "0.00138413" "02330" "ALPK3_000002" "g.85360252C>G" "" "" "" "ALPK3(NM_020778.4):c.175C>G (p.R59G, p.(Arg59Gly)), ALPK3(NM_020778.5):c.-432C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817021C>G" "" "benign" "" "0000555666" "0" "10" "15" "85360319" "85360319" "subst" "0.000750306" "02330" "ALPK3_000109" "g.85360319C>T" "" "" "" "ALPK3(NM_020778.4):c.242C>T (p.T81M), ALPK3(NM_020778.5):c.-365C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817088C>T" "" "benign" "" "0000555667" "0" "50" "15" "85360333" "85360333" "subst" "0" "02330" "ALPK3_000110" "g.85360333C>A" "" "" "" "ALPK3(NM_020778.5):c.-351C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817102C>A" "" "VUS" "" "0000555668" "0" "10" "15" "85360513" "85360517" "dup" "0" "01943" "ALPK3_000111" "g.85360513_85360517dup" "" "" "" "ALPK3(NM_020778.4):c.436_440dupCCAGG (p.E148Qfs*8), ALPK3(NM_020778.5):c.-173_-169dupGGCCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817282_84817286dup" "" "benign" "" "0000555669" "0" "10" "15" "85360513" "85360517" "dup" "0" "02330" "ALPK3_000111" "g.85360513_85360517dup" "" "" "" "ALPK3(NM_020778.4):c.436_440dupCCAGG (p.E148Qfs*8), ALPK3(NM_020778.5):c.-173_-169dupGGCCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817282_84817286dup" "" "benign" "" "0000555670" "0" "50" "15" "85360594" "85360594" "subst" "0" "01943" "ALPK3_000112" "g.85360594G>A" "" "" "" "ALPK3(NM_020778.4):c.517G>A (p.A173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817363G>A" "" "VUS" "" "0000555671" "0" "10" "15" "85360641" "85360641" "subst" "0" "02330" "ALPK3_000113" "g.85360641G>A" "" "" "" "ALPK3(NM_020778.5):c.-43G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817410G>A" "" "benign" "" "0000555672" "0" "50" "15" "85360700" "85360700" "subst" "0" "02330" "ALPK3_000114" "g.85360700C>T" "" "" "" "ALPK3(NM_020778.5):c.17C>T (p.A6V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817469C>T" "" "VUS" "" "0000555673" "0" "50" "15" "85360745" "85360745" "subst" "7.76619E-5" "01943" "ALPK3_000055" "g.85360745G>T" "" "" "" "ALPK3(NM_020778.4):c.668G>T (p.G223V), ALPK3(NM_020778.5):c.62G>T (p.G21V, p.(Gly21Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817514G>T" "" "VUS" "" "0000555674" "0" "50" "15" "85360765" "85360765" "subst" "0" "02325" "ALPK3_000115" "g.85360765C>G" "" "" "" "ALPK3(NM_020778.5):c.82C>G (p.P28A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817534C>G" "" "VUS" "" "0000555675" "0" "30" "15" "85360806" "85360806" "subst" "0.000275687" "01943" "ALPK3_000058" "g.85360806C>T" "" "" "" "ALPK3(NM_020778.4):c.729C>T (p.L243=), ALPK3(NM_020778.5):c.123C>T (p.L41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817575C>T" "" "likely benign" "" "0000555676" "0" "50" "15" "85360821" "85360821" "subst" "0" "01943" "ALPK3_000116" "g.85360821G>C" "" "" "" "ALPK3(NM_020778.4):c.744G>C (p.E248D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817590G>C" "" "VUS" "" "0000555678" "0" "50" "15" "85366592" "85366592" "subst" "0.000162427" "02330" "ALPK3_000117" "g.85366592T>C" "" "" "" "ALPK3(NM_020778.5):c.175T>C (p.S59P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84823361T>C" "" "VUS" "" "0000555679" "0" "30" "15" "85370777" "85370777" "subst" "0.00016653" "02330" "ALPK3_000119" "g.85370777C>T" "" "" "" "ALPK3(NM_020778.4):c.851C>T (p.T284M), ALPK3(NM_020778.5):c.245C>T (p.T82M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84827546C>T" "" "likely benign" "" "0000555680" "0" "50" "15" "85370777" "85370777" "subst" "0.00016653" "01943" "ALPK3_000119" "g.85370777C>T" "" "" "" "ALPK3(NM_020778.4):c.851C>T (p.T284M), ALPK3(NM_020778.5):c.245C>T (p.T82M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84827546C>T" "" "VUS" "" "0000555681" "0" "50" "15" "85370783" "85370783" "subst" "0" "02325" "ALPK3_000120" "g.85370783A>G" "" "" "" "ALPK3(NM_020778.5):c.251A>G (p.K84R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84827552A>G" "" "VUS" "" "0000555682" "0" "50" "15" "85370829" "85370829" "subst" "9.75483E-5" "01943" "ALPK3_000121" "g.85370829C>A" "" "" "" "ALPK3(NM_020778.4):c.903C>A (p.I301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84827598C>A" "" "VUS" "" "0000555683" "0" "10" "15" "85370842" "85370842" "subst" "0" "02330" "ALPK3_000122" "g.85370842G>T" "" "" "" "ALPK3(NM_020778.5):c.304+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84827611G>T" "" "benign" "" "0000555684" "0" "10" "15" "85382302" "85382302" "subst" "0" "02330" "ALPK3_000123" "g.85382302C>A" "" "" "" "ALPK3(NM_020778.5):c.396C>A (p.G132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839071C>A" "" "benign" "" "0000555685" "0" "30" "15" "85382307" "85382307" "subst" "0.0109635" "01804" "ALPK3_000063" "g.85382307G>A" "" "" "" "ALPK3(NM_020778.4):c.1007G>A (p.R336H), ALPK3(NM_020778.5):c.401G>A (p.R134H, p.(Arg134His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839076G>A" "" "likely benign" "" "0000555686" "0" "50" "15" "85383042" "85383042" "subst" "0" "02330" "ALPK3_000124" "g.85383042C>T" "" "" "" "ALPK3(NM_020778.5):c.532C>T (p.H178Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839811C>T" "" "VUS" "" "0000555687" "0" "30" "15" "85383134" "85383134" "subst" "6.10565E-5" "01943" "ALPK3_000067" "g.85383134G>C" "" "" "" "ALPK3(NM_020778.4):c.1230G>C (p.G410=), ALPK3(NM_020778.5):c.624G>C (p.G208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839903G>C" "" "likely benign" "" "0000555688" "0" "10" "15" "85383145" "85383145" "subst" "0.219614" "02330" "ALPK3_000125" "g.85383145C>G" "" "" "" "ALPK3(NM_020778.4):c.1241C>G (p.T414S), ALPK3(NM_020778.5):c.635C>G (p.T212S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839914C>G" "" "benign" "" "0000555689" "0" "10" "15" "85383145" "85383145" "subst" "0.219614" "01943" "ALPK3_000125" "g.85383145C>G" "" "" "" "ALPK3(NM_020778.4):c.1241C>G (p.T414S), ALPK3(NM_020778.5):c.635C>G (p.T212S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839914C>G" "" "benign" "" "0000555690" "0" "50" "15" "85383147" "85383148" "del" "0" "01943" "ALPK3_000126" "g.85383147_85383148del" "" "" "" "ALPK3(NM_020778.4):c.1243_1244delCT (p.L415Afs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839916_84839917del" "" "VUS" "" "0000555691" "0" "10" "15" "85383212" "85383212" "subst" "1.2376E-5" "02330" "ALPK3_000127" "g.85383212C>A" "" "" "" "ALPK3(NM_020778.4):c.1308C>A (p.G436=), ALPK3(NM_020778.5):c.702C>A (p.G234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839981C>A" "" "benign" "" "0000555692" "0" "30" "15" "85383212" "85383212" "subst" "1.2376E-5" "01943" "ALPK3_000127" "g.85383212C>A" "" "" "" "ALPK3(NM_020778.4):c.1308C>A (p.G436=), ALPK3(NM_020778.5):c.702C>A (p.G234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839981C>A" "" "likely benign" "" "0000555693" "0" "50" "15" "85383222" "85383222" "subst" "2.86808E-5" "02330" "ALPK3_000128" "g.85383222C>T" "" "" "" "ALPK3(NM_020778.5):c.712C>T (p.P238S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839991C>T" "" "VUS" "" "0000555694" "0" "50" "15" "85383354" "85383354" "subst" "0" "02330" "ALPK3_000129" "g.85383354C>A" "" "" "" "ALPK3(NM_020778.5):c.844C>A (p.P282T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840123C>A" "" "VUS" "" "0000555695" "0" "50" "15" "85383368" "85383403" "del" "0" "02330" "ALPK3_000130" "g.85383368_85383403del" "" "" "" "ALPK3(NM_020778.5):c.858_893del (p.E286_C297del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840137_84840172del" "" "VUS" "" "0000555696" "0" "50" "15" "85383391" "85383391" "subst" "0" "02330" "ALPK3_000131" "g.85383391C>T" "" "" "" "ALPK3(NM_020778.5):c.881C>T (p.T294I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840160C>T" "" "VUS" "" "0000555697" "0" "10" "15" "85383450" "85383450" "subst" "0.000268756" "02330" "ALPK3_000132" "g.85383450G>A" "" "" "" "ALPK3(NM_020778.4):c.1546G>A (p.A516T), ALPK3(NM_020778.5):c.940G>A (p.A314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840219G>A" "" "benign" "" "0000555698" "0" "30" "15" "85383450" "85383450" "subst" "0.000268756" "01943" "ALPK3_000132" "g.85383450G>A" "" "" "" "ALPK3(NM_020778.4):c.1546G>A (p.A516T), ALPK3(NM_020778.5):c.940G>A (p.A314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840219G>A" "" "likely benign" "" "0000555699" "0" "30" "15" "85383458" "85383458" "subst" "0.000297406" "01943" "ALPK3_000071" "g.85383458G>A" "" "" "" "ALPK3(NM_020778.4):c.1554G>A (p.K518=), ALPK3(NM_020778.5):c.948G>A (p.K316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840227G>A" "" "likely benign" "" "0000555700" "0" "70" "15" "85383469" "85383470" "del" "0" "02330" "ALPK3_000133" "g.85383469_85383470del" "" "" "" "ALPK3(NM_020778.5):c.959_960delAT (p.D320Gfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840238_84840239del" "" "likely pathogenic" "" "0000555701" "0" "50" "15" "85383564" "85383564" "subst" "1.22188E-5" "02330" "ALPK3_000134" "g.85383564C>T" "" "" "" "ALPK3(NM_020778.5):c.1054C>T (p.P352S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840333C>T" "" "VUS" "" "0000555704" "0" "50" "15" "85383730" "85383735" "dup" "0" "02330" "ALPK3_000136" "g.85383730_85383735dup" "" "" "" "ALPK3(NM_020778.5):c.1220_1225dupCAGGCC (p.P407_G408dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840499_84840504dup" "" "VUS" "" "0000555705" "0" "30" "15" "85384004" "85384004" "subst" "4.06098E-6" "01943" "ALPK3_000137" "g.85384004C>A" "" "" "" "ALPK3(NM_020778.4):c.2100C>A (p.P700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840773C>A" "" "likely benign" "" "0000555706" "0" "10" "15" "85384032" "85384032" "subst" "0.00115342" "02330" "ALPK3_000078" "g.85384032T>G" "" "" "" "ALPK3(NM_020778.4):c.2128T>G (p.C710G), ALPK3(NM_020778.5):c.1522T>G (p.C508G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840801T>G" "" "benign" "" "0000555707" "0" "30" "15" "85384085" "85384085" "subst" "0" "01943" "ALPK3_000138" "g.85384085G>A" "" "" "" "ALPK3(NM_020778.4):c.2181G>A (p.P727=), ALPK3(NM_020778.5):c.1575G>A (p.P525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840854G>A" "" "likely benign" "" "0000555708" "0" "50" "15" "85399657" "85399657" "subst" "0.000128401" "01943" "ALPK3_000139" "g.85399657T>G" "" "" "" "ALPK3(NM_020778.4):c.2294T>G (p.M765R), ALPK3(NM_020778.5):c.1688T>G (p.M563R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856426T>G" "" "VUS" "" "0000555710" "0" "10" "15" "85399679" "85399679" "subst" "0.00850162" "02330" "ALPK3_000140" "g.85399679T>C" "" "" "" "ALPK3(NM_020778.5):c.1710T>C (p.D570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856448T>C" "" "benign" "" "0000555711" "0" "50" "15" "85400082" "85400082" "subst" "0" "02330" "ALPK3_000141" "g.85400082C>G" "" "" "" "ALPK3(NM_020778.5):c.2113C>G (p.Q705E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856851C>G" "" "VUS" "" "0000555712" "0" "30" "15" "85400099" "85400099" "subst" "0.000105651" "01943" "ALPK3_000142" "g.85400099G>A" "" "" "" "ALPK3(NM_020778.4):c.2736G>A (p.T912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856868G>A" "" "likely benign" "" "0000555713" "0" "30" "15" "85400150" "85400150" "subst" "0.000256145" "01943" "ALPK3_000143" "g.85400150G>C" "" "" "" "ALPK3(NM_020778.4):c.2787G>C (p.E929D), ALPK3(NM_020778.5):c.2181G>C (p.E727D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856919G>C" "" "likely benign" "" "0000555714" "0" "10" "15" "85400174" "85400174" "subst" "7.71931E-5" "02330" "ALPK3_000144" "g.85400174A>G" "" "" "" "ALPK3(NM_020778.5):c.2205A>G (p.P735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856943A>G" "" "benign" "" "0000555715" "0" "10" "15" "85400192" "85400192" "subst" "0.000471242" "02330" "ALPK3_000090" "g.85400192C>T" "" "" "" "ALPK3(NM_020778.4):c.2829C>T (p.L943=), ALPK3(NM_020778.5):c.2223C>T (p.L741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856961C>T" "" "benign" "" "0000555716" "0" "30" "15" "85400192" "85400192" "subst" "0.000471242" "01943" "ALPK3_000090" "g.85400192C>T" "" "" "" "ALPK3(NM_020778.4):c.2829C>T (p.L943=), ALPK3(NM_020778.5):c.2223C>T (p.L741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856961C>T" "" "likely benign" "" "0000555717" "0" "30" "15" "85400207" "85400207" "subst" "4.06187E-6" "01943" "ALPK3_000145" "g.85400207T>A" "" "" "" "ALPK3(NM_020778.4):c.2844T>A (p.G948=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856976T>A" "" "likely benign" "" "0000555718" "0" "30" "15" "85400220" "85400220" "subst" "2.03115E-5" "01943" "ALPK3_000146" "g.85400220C>T" "" "" "" "ALPK3(NM_020778.4):c.2857C>T (p.L953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856989C>T" "" "likely benign" "" "0000555719" "0" "10" "15" "85400231" "85400231" "subst" "0.00040621" "02330" "ALPK3_000007" "g.85400231A>G" "" "" "" "ALPK3(NM_020778.4):c.2868A>G (p.E956=), ALPK3(NM_020778.5):c.2262A>G (p.E754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857000A>G" "" "benign" "" "0000555720" "0" "10" "15" "85400400" "85400400" "subst" "0.00466256" "02330" "ALPK3_000147" "g.85400400G>A" "" "" "" "ALPK3(NM_020778.4):c.3037G>A (p.E1013K, p.(Glu1013Lys)), ALPK3(NM_020778.5):c.2431G>A (p.E811K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857169G>A" "" "benign" "" "0000555721" "0" "10" "15" "85400400" "85400400" "subst" "0.00466256" "01943" "ALPK3_000147" "g.85400400G>A" "" "" "" "ALPK3(NM_020778.4):c.3037G>A (p.E1013K, p.(Glu1013Lys)), ALPK3(NM_020778.5):c.2431G>A (p.E811K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857169G>A" "" "benign" "" "0000555722" "0" "10" "15" "85400429" "85400429" "subst" "0" "02330" "ALPK3_000148" "g.85400429G>A" "" "" "" "ALPK3(NM_020778.5):c.2460G>A (p.G820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857198G>A" "" "benign" "" "0000555723" "0" "50" "15" "85400513" "85400513" "subst" "4.4812E-5" "02330" "ALPK3_000149" "g.85400513G>A" "" "" "" "ALPK3(NM_020778.5):c.2544G>A (p.P848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857282G>A" "" "VUS" "" "0000555724" "0" "10" "15" "85400566" "85400566" "subst" "0.00111007" "01943" "ALPK3_000094" "g.85400566C>T" "" "" "" "ALPK3(NM_020778.4):c.3203C>T (p.T1068M), ALPK3(NM_020778.5):c.2597C>T (p.T866M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857335C>T" "" "benign" "" "0000555725" "0" "30" "15" "85400622" "85400622" "subst" "6.50697E-5" "01943" "ALPK3_000150" "g.85400622A>G" "" "" "" "ALPK3(NM_020778.4):c.3259A>G (p.S1087G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857391A>G" "" "likely benign" "" "0000555726" "0" "50" "15" "85400671" "85400671" "subst" "4.07764E-6" "02330" "ALPK3_000151" "g.85400671A>G" "" "" "" "ALPK3(NM_020778.4):c.3308A>G (p.E1103G), ALPK3(NM_020778.5):c.2702A>G (p.E901G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857440A>G" "" "VUS" "" "0000555727" "0" "50" "15" "85400671" "85400671" "subst" "4.07764E-6" "01943" "ALPK3_000151" "g.85400671A>G" "" "" "" "ALPK3(NM_020778.4):c.3308A>G (p.E1103G), ALPK3(NM_020778.5):c.2702A>G (p.E901G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857440A>G" "" "VUS" "" "0000555728" "0" "70" "15" "85400781" "85400781" "subst" "0" "02327" "ALPK3_000152" "g.85400781C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857550C>T" "" "likely pathogenic" "" "0000555729" "0" "30" "15" "85400894" "85400894" "subst" "4.55106E-5" "01943" "ALPK3_000153" "g.85400894A>G" "" "" "" "ALPK3(NM_020778.4):c.3531A>G (p.T1177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857663A>G" "" "likely benign" "" "0000555730" "0" "10" "15" "85400933" "85400933" "subst" "0.000167696" "02330" "ALPK3_000154" "g.85400933C>T" "" "" "" "ALPK3(NM_020778.5):c.2964C>T (p.T988=, p.(Thr988=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857702C>T" "" "benign" "" "0000555731" "0" "50" "15" "85400986" "85400986" "subst" "0" "02330" "ALPK3_000155" "g.85400986T>G" "" "" "" "ALPK3(NM_020778.5):c.3017T>G (p.L1006R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857755T>G" "" "VUS" "" "0000555732" "0" "50" "15" "85400995" "85400995" "subst" "0.000126488" "02330" "ALPK3_000156" "g.85400995G>A" "" "" "" "ALPK3(NM_020778.4):c.3632G>A (p.R1211Q), ALPK3(NM_020778.5):c.3026G>A (p.R1009Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857764G>A" "" "VUS" "" "0000555733" "0" "50" "15" "85401006" "85401006" "subst" "3.6732E-5" "02325" "ALPK3_000103" "g.85401006C>T" "" "" "" "ALPK3(NM_020778.4):c.3643C>T (p.R1215C), ALPK3(NM_020778.5):c.3037C>T (p.R1013C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857775C>T" "" "VUS" "" "0000555734" "0" "50" "15" "85401271" "85401271" "subst" "0.000204244" "02330" "ALPK3_000157" "g.85401271G>A" "" "" "" "ALPK3(NM_020778.5):c.3302G>A (p.G1101D, p.(Gly1101Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858040G>A" "" "VUS" "" "0000555735" "0" "30" "15" "85401271" "85401271" "subst" "0.000204244" "02325" "ALPK3_000157" "g.85401271G>A" "" "" "" "ALPK3(NM_020778.5):c.3302G>A (p.G1101D, p.(Gly1101Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858040G>A" "" "likely benign" "" "0000555736" "0" "30" "15" "85401284" "85401284" "subst" "0" "01943" "ALPK3_000158" "g.85401284C>T" "" "" "" "ALPK3(NM_020778.4):c.3921C>T (p.A1307=), ALPK3(NM_020778.5):c.3315C>T (p.A1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858053C>T" "" "likely benign" "" "0000555737" "0" "10" "15" "85401322" "85401322" "subst" "0.000434965" "01943" "ALPK3_000159" "g.85401322C>T" "" "" "" "ALPK3(NM_020778.4):c.3959C>T (p.A1320V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858091C>T" "" "benign" "" "0000555738" "0" "30" "15" "85401366" "85401366" "subst" "8.84447E-6" "01943" "ALPK3_000160" "g.85401366A>G" "" "" "" "ALPK3(NM_020778.4):c.4003A>G (p.I1335V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858135A>G" "" "likely benign" "" "0000555739" "0" "30" "15" "85401370" "85401370" "subst" "0.000997995" "01943" "ALPK3_000009" "g.85401370C>T" "" "" "" "ALPK3(NM_020778.4):c.4007C>T (p.A1336V), ALPK3(NM_020778.5):c.3401C>T (p.A1134V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858139C>T" "" "likely benign" "" "0000555740" "0" "50" "15" "85401423" "85401423" "subst" "1.65192E-5" "01943" "ALPK3_000161" "g.85401423C>G" "" "" "" "ALPK3(NM_020778.4):c.4060C>G (p.P1354A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858192C>G" "" "VUS" "" "0000555741" "0" "50" "15" "85401454" "85401454" "subst" "6.69921E-5" "02330" "ALPK3_000011" "g.85401454G>C" "" "" "" "ALPK3(NM_020778.5):c.3485G>C (p.G1162A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858223G>C" "" "VUS" "" "0000555742" "0" "50" "15" "85401457" "85401457" "subst" "4.62729E-5" "02330" "ALPK3_000162" "g.85401457C>T" "" "" "" "ALPK3(NM_020778.4):c.4094C>T (p.A1365V, p.(Ala1365Val)), ALPK3(NM_020778.5):c.3488C>T (p.A1163V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858226C>T" "" "VUS" "" "0000555743" "0" "50" "15" "85401457" "85401457" "subst" "4.62729E-5" "01943" "ALPK3_000162" "g.85401457C>T" "" "" "" "ALPK3(NM_020778.4):c.4094C>T (p.A1365V, p.(Ala1365Val)), ALPK3(NM_020778.5):c.3488C>T (p.A1163V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858226C>T" "" "VUS" "" "0000555744" "0" "50" "15" "85401524" "85401529" "dup" "0" "02330" "ALPK3_000163" "g.85401524_85401529dup" "" "" "" "ALPK3(NM_020778.5):c.3555_3560dupAAGGGA (p.R1186_E1187dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858293_84858298dup" "" "VUS" "" "0000555745" "0" "30" "15" "85401565" "85401565" "subst" "5.79173E-5" "01943" "ALPK3_000164" "g.85401565G>A" "" "" "" "ALPK3(NM_020778.4):c.4202G>A (p.S1401N), ALPK3(NM_020778.5):c.3596G>A (p.S1199N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858334G>A" "" "likely benign" "" "0000555747" "0" "50" "15" "85401609" "85401612" "dup" "0" "01943" "ALPK3_000165" "g.85401609_85401612dup" "" "" "" "ALPK3(NM_020778.4):c.4246_4249dupTCCC (p.P1417Lfs*42), ALPK3(NM_020778.5):c.3640_3643dupTCCC (p.P1215Lfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858378_84858381dup" "" "VUS" "" "0000555748" "0" "50" "15" "85401631" "85401631" "subst" "0.000122157" "02330" "ALPK3_000166" "g.85401631C>T" "" "" "" "ALPK3(NM_020778.5):c.3662C>T (p.A1221V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858400C>T" "" "VUS" "" "0000555749" "0" "30" "15" "85401651" "85401651" "subst" "0.000290662" "01804" "ALPK3_000167" "g.85401651C>T" "" "" "" "ALPK3(NM_020778.4):c.4288C>T (p.R1430W, p.(Arg1430Trp)), ALPK3(NM_020778.5):c.3682C>T (p.R1228W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858420C>T" "" "likely benign" "" "0000555750" "0" "30" "15" "85401689" "85401689" "subst" "0" "01943" "ALPK3_000168" "g.85401689C>T" "" "" "" "ALPK3(NM_020778.4):c.4326C>T (p.P1442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858458C>T" "" "likely benign" "" "0000555751" "0" "50" "15" "85401729" "85401729" "subst" "0" "02330" "ALPK3_000169" "g.85401729G>A" "" "" "" "ALPK3(NM_020778.5):c.3760G>A (p.D1254N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858498G>A" "" "VUS" "" "0000555752" "0" "10" "15" "85402490" "85402490" "subst" "8.12216E-6" "02330" "ALPK3_000170" "g.85402490G>C" "" "" "" "ALPK3(NM_020778.5):c.3834G>C (p.R1278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859259G>C" "" "benign" "" "0000555753" "0" "30" "15" "85402523" "85402523" "subst" "0.000426427" "02325" "ALPK3_000171" "g.85402523C>T" "" "" "" "ALPK3(NM_020778.4):c.4473C>T (p.S1491=), ALPK3(NM_020778.5):c.3867C>T (p.S1289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859292C>T" "" "likely benign" "" "0000555754" "0" "10" "15" "85402989" "85402989" "subst" "0" "02330" "ALPK3_000172" "g.85402989A>G" "" "" "" "ALPK3(NM_020778.5):c.3966-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859758A>G" "" "benign" "" "0000555755" "0" "10" "15" "85402993" "85402993" "subst" "0.00147888" "02330" "ALPK3_000173" "g.85402993T>C" "" "" "" "ALPK3(NM_020778.5):c.3966-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859762T>C" "" "benign" "" "0000555756" "0" "30" "15" "85403064" "85403064" "subst" "7.31874E-5" "02325" "ALPK3_000174" "g.85403064C>T" "" "" "" "ALPK3(NM_020778.4):c.4629C>T (p.C1543=), ALPK3(NM_020778.5):c.4023C>T (p.C1341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859833C>T" "" "likely benign" "" "0000555757" "0" "10" "15" "85403097" "85403097" "subst" "0.000337311" "02330" "ALPK3_000025" "g.85403097C>T" "" "" "" "ALPK3(NM_020778.4):c.4662C>T (p.H1554=), ALPK3(NM_020778.5):c.4056C>T (p.H1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859866C>T" "" "benign" "" "0000555758" "0" "10" "15" "85403105" "85403105" "subst" "0.0164154" "01804" "ALPK3_000027" "g.85403105C>A" "" "" "" "ALPK3(NM_020778.4):c.4670C>A (p.A1557D), ALPK3(NM_020778.5):c.4064C>A (p.A1355D, p.(Ala1355Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859874C>A" "" "benign" "" "0000555759" "0" "30" "15" "85403133" "85403133" "subst" "9.34959E-5" "01943" "ALPK3_000175" "g.85403133G>C" "" "" "" "ALPK3(NM_020778.4):c.4698G>C (p.E1566D), ALPK3(NM_020778.5):c.4092G>C (p.E1364D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859902G>C" "" "likely benign" "" "0000555760" "0" "90" "15" "85405865" "85405865" "subst" "1.23886E-5" "02330" "ALPK3_000031" "g.85405865G>A" "" "" "" "ALPK3(NM_020778.4):c.4736-1G>A, ALPK3(NM_020778.5):c.4130-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84862634G>A" "" "pathogenic" "" "0000555761" "0" "90" "15" "85405865" "85405865" "subst" "1.23886E-5" "01943" "ALPK3_000031" "g.85405865G>A" "" "" "" "ALPK3(NM_020778.4):c.4736-1G>A, ALPK3(NM_020778.5):c.4130-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84862634G>A" "" "pathogenic" "" "0000555762" "0" "70" "15" "85405890" "85405890" "del" "0" "02330" "ALPK3_000176" "g.85405890del" "" "" "" "ALPK3(NM_020778.4):c.4760delC (p.P1587Lfs*23), ALPK3(NM_020778.5):c.4154delC (p.P1385Lfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84862659del" "" "likely pathogenic" "" "0000555763" "0" "50" "15" "85405905" "85405905" "subst" "0" "02330" "ALPK3_000177" "g.85405905A>C" "" "" "" "ALPK3(NM_020778.5):c.4169A>C (p.K1390T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84862674A>C" "" "VUS" "" "0000555764" "0" "30" "15" "85405949" "85405949" "subst" "0" "02325" "ALPK3_000178" "g.85405949C>A" "" "" "" "ALPK3(NM_020778.5):c.4213C>A (p.R1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84862718C>A" "" "likely benign" "" "0000555765" "0" "50" "15" "85406055" "85406055" "subst" "1.21831E-5" "01943" "ALPK3_000179" "g.85406055G>A" "" "" "" "ALPK3(NM_020778.4):c.4925G>A (p.R1642H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84862824G>A" "" "VUS" "" "0000555766" "0" "10" "15" "85406846" "85406846" "subst" "0.000935484" "02330" "ALPK3_000180" "g.85406846G>A" "" "" "" "ALPK3(NM_020778.4):c.5080G>A (p.(Ala1694Thr)), ALPK3(NM_020778.5):c.4474G>A (p.A1492T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84863615G>A" "" "benign" "" "0000555767" "0" "50" "15" "85407686" "85407686" "subst" "4.06227E-6" "02330" "ALPK3_000181" "g.85407686T>C" "" "" "" "ALPK3(NM_020778.5):c.4513T>C (p.Y1505H, p.(Tyr1505His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84864455T>C" "" "VUS" "" "0000555768" "0" "10" "15" "85407721" "85407721" "subst" "0" "02330" "ALPK3_000182" "g.85407721T>C" "" "" "" "ALPK3(NM_020778.5):c.4548T>C (p.Y1516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84864490T>C" "" "benign" "" "0000555769" "0" "30" "15" "85407821" "85407821" "subst" "4.06055E-6" "01943" "ALPK3_000183" "g.85407821A>G" "" "" "" "ALPK3(NM_020778.4):c.5254A>G (p.M1752V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84864590A>G" "" "likely benign" "" "0000555770" "0" "50" "15" "85407828" "85407828" "subst" "4.06055E-6" "02325" "ALPK3_000038" "g.85407828A>C" "" "" "" "ALPK3(NM_020778.5):c.4655A>C (p.K1552T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84864597A>C" "" "VUS" "" "0000555771" "0" "90" "15" "85407861" "85407861" "subst" "0" "01943" "ALPK3_000184" "g.85407861G>A" "" "" "" "ALPK3(NM_020778.4):c.5294G>A (p.W1765*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84864630G>A" "" "pathogenic" "" "0000555772" "0" "10" "15" "85410529" "85410529" "subst" "0" "02330" "ALPK3_000185" "g.85410529C>G" "" "" "" "ALPK3(NM_020778.5):c.4724-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84867298C>G" "" "benign" "" "0000555773" "0" "50" "15" "85410592" "85410592" "subst" "0" "01943" "ALPK3_000186" "g.85410592C>T" "" "" "" "ALPK3(NM_020778.4):c.5374C>T (p.R1792*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84867361C>T" "" "VUS" "" "0000555774" "0" "50" "15" "85411452" "85411452" "subst" "4.87527E-5" "02330" "ALPK3_000187" "g.85411452C>T" "" "" "" "ALPK3(NM_020778.5):c.4883C>T (p.P1628L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868221C>T" "" "VUS" "" "0000555775" "0" "10" "15" "85411468" "85411468" "subst" "4.06213E-5" "02330" "ALPK3_000188" "g.85411468C>G" "" "" "" "ALPK3(NM_020778.5):c.4899C>G (p.P1633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868237C>G" "" "benign" "" "0000555776" "0" "10" "15" "85411468" "85411468" "subst" "8.12427E-6" "02330" "ALPK3_000189" "g.85411468C>T" "" "" "" "ALPK3(NM_020778.4):c.5505C>T (p.P1835=), ALPK3(NM_020778.5):c.4899C>T (p.P1633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868237C>T" "" "benign" "" "0000555777" "0" "30" "15" "85411468" "85411468" "subst" "8.12427E-6" "01943" "ALPK3_000189" "g.85411468C>T" "" "" "" "ALPK3(NM_020778.4):c.5505C>T (p.P1835=), ALPK3(NM_020778.5):c.4899C>T (p.P1633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868237C>T" "" "likely benign" "" "0000555778" "0" "50" "15" "85411489" "85411489" "dup" "0" "02330" "ALPK3_000190" "g.85411489dup" "" "" "" "ALPK3(NM_020778.4):c.5526dupT (p.K1843*), ALPK3(NM_020778.5):c.4920dupT (p.K1641*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868258dup" "" "VUS" "" "0000555779" "0" "50" "15" "85411489" "85411489" "dup" "0" "01943" "ALPK3_000190" "g.85411489dup" "" "" "" "ALPK3(NM_020778.4):c.5526dupT (p.K1843*), ALPK3(NM_020778.5):c.4920dupT (p.K1641*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868258dup" "" "VUS" "" "0000555780" "0" "50" "15" "85411489" "85411489" "dup" "0" "02325" "ALPK3_000190" "g.85411489dup" "" "" "" "ALPK3(NM_020778.4):c.5526dupT (p.K1843*), ALPK3(NM_020778.5):c.4920dupT (p.K1641*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868258dup" "" "VUS" "" "0000555781" "0" "50" "15" "85411578" "85411578" "subst" "4.06517E-6" "02325" "ALPK3_000191" "g.85411578G>A" "" "" "" "ALPK3(NM_020778.5):c.5009G>A (p.S1670N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868347G>A" "" "VUS" "" "0000555782" "0" "10" "15" "85411581" "85411581" "subst" "0.00355313" "02330" "ALPK3_000192" "g.85411581C>T" "" "" "" "ALPK3(NM_020778.4):c.5618C>T (p.A1873V), ALPK3(NM_020778.5):c.5012C>T (p.A1671V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868350C>T" "" "benign" "" "0000555783" "0" "10" "15" "85411581" "85411581" "subst" "0.00355313" "01943" "ALPK3_000192" "g.85411581C>T" "" "" "" "ALPK3(NM_020778.4):c.5618C>T (p.A1873V), ALPK3(NM_020778.5):c.5012C>T (p.A1671V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868350C>T" "" "benign" "" "0000555784" "0" "50" "15" "85411684" "85411684" "del" "0" "02330" "ALPK3_000193" "g.85411684del" "" "" "" "ALPK3(NM_020778.5):c.5115delG (p.*1706Sfs*50)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868453del" "" "VUS" "" "0000615563" "0" "50" "15" "85360180" "85360180" "subst" "1.23643E-5" "02325" "ALPK3_000194" "g.85360180C>T" "" "" "" "ALPK3(NM_020778.5):c.-504C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84816949C>T" "" "VUS" "" "0000615564" "0" "30" "15" "85360231" "85360231" "subst" "0.000119947" "02327" "ALPK3_000108" "g.85360231C>T" "" "" "" "ALPK3(NM_020778.4):c.154C>T (p.P52S), ALPK3(NM_020778.5):c.-453C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817000C>T" "" "likely benign" "" "0000615565" "0" "50" "15" "85360330" "85360330" "subst" "0" "02330" "ALPK3_000195" "g.85360330G>C" "" "" "" "ALPK3(NM_020778.5):c.-354G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817099G>C" "" "VUS" "" "0000615566" "0" "30" "15" "85360513" "85360517" "dup" "0" "02325" "ALPK3_000111" "g.85360513_85360517dup" "" "" "" "ALPK3(NM_020778.4):c.436_440dupCCAGG (p.E148Qfs*8), ALPK3(NM_020778.5):c.-173_-169dupGGCCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817282_84817286dup" "" "likely benign" "" "0000615567" "0" "50" "15" "85360813" "85360813" "subst" "0" "02330" "ALPK3_000197" "g.85360813C>G" "" "" "" "ALPK3(NM_020778.5):c.130C>G (p.R44G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817582C>G" "" "VUS" "" "0000615568" "0" "30" "15" "85382306" "85382306" "subst" "0.000203041" "02330" "ALPK3_000198" "g.85382306C>T" "" "" "" "ALPK3(NM_020778.5):c.400C>T (p.R134C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839075C>T" "" "likely benign" "" "0000615569" "0" "30" "15" "85383152" "85383152" "subst" "0" "02327" "ALPK3_000199" "g.85383152C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839921C>T" "" "likely benign" "" "0000615570" "0" "10" "15" "85383239" "85383239" "subst" "0" "02330" "ALPK3_000200" "g.85383239G>A" "" "" "" "ALPK3(NM_020778.5):c.729G>A (p.E243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840008G>A" "" "benign" "" "0000615571" "0" "50" "15" "85383507" "85383507" "subst" "0" "02330" "ALPK3_000201" "g.85383507G>A" "" "" "" "ALPK3(NM_020778.5):c.997G>A (p.E333K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840276G>A" "" "VUS" "" "0000615572" "0" "30" "15" "85383564" "85383564" "subst" "1.22188E-5" "02327" "ALPK3_000134" "g.85383564C>T" "" "" "" "ALPK3(NM_020778.5):c.1054C>T (p.P352S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840333C>T" "" "likely benign" "" "0000615573" "0" "30" "15" "85399869" "85399869" "subst" "0.00064632" "01943" "ALPK3_000205" "g.85399869C>T" "" "" "" "ALPK3(NM_020778.4):c.2506C>T (p.R836C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856638C>T" "" "likely benign" "" "0000615575" "0" "30" "15" "85400146" "85400146" "subst" "0.00467529" "01804" "ALPK3_000089" "g.85400146A>G" "" "" "" "ALPK3(NM_020778.4):c.2783A>G (p.Q928R, p.(Gln928Arg)), ALPK3(NM_020778.5):c.2177A>G (p.Q726R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856915A>G" "" "likely benign" "" "0000615576" "0" "30" "15" "85400400" "85400400" "subst" "0.00466256" "01804" "ALPK3_000147" "g.85400400G>A" "" "" "" "ALPK3(NM_020778.4):c.3037G>A (p.E1013K, p.(Glu1013Lys)), ALPK3(NM_020778.5):c.2431G>A (p.E811K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857169G>A" "" "likely benign" "" "0000615577" "0" "50" "15" "85400430" "85400430" "subst" "0" "02330" "ALPK3_000207" "g.85400430C>A" "" "" "" "ALPK3(NM_020778.5):c.2461C>A (p.P821T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857199C>A" "" "VUS" "" "0000615578" "0" "30" "15" "85400430" "85400430" "subst" "0" "02327" "ALPK3_000207" "g.85400430C>A" "" "" "" "ALPK3(NM_020778.5):c.2461C>A (p.P821T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857199C>A" "" "likely benign" "" "0000615579" "0" "30" "15" "85400671" "85400671" "subst" "4.07764E-6" "02327" "ALPK3_000151" "g.85400671A>G" "" "" "" "ALPK3(NM_020778.4):c.3308A>G (p.E1103G), ALPK3(NM_020778.5):c.2702A>G (p.E901G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857440A>G" "" "likely benign" "" "0000615580" "0" "50" "15" "85400898" "85400898" "subst" "0" "02330" "ALPK3_000208" "g.85400898G>A" "" "" "" "ALPK3(NM_020778.5):c.2929G>A (p.G977R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857667G>A" "" "VUS" "" "0000615581" "0" "30" "15" "85400955" "85400955" "subst" "0" "02327" "ALPK3_000209" "g.85400955A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857724A>G" "" "likely benign" "" "0000615582" "0" "30" "15" "85401007" "85401007" "subst" "0.0001551" "02327" "ALPK3_000104" "g.85401007G>A" "" "" "" "ALPK3(NM_020778.4):c.3644G>A (p.R1215H), ALPK3(NM_020778.5):c.3038G>A (p.R1013H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857776G>A" "" "likely benign" "" "0000615583" "0" "30" "15" "85401085" "85401085" "subst" "4.96561E-5" "02327" "ALPK3_000210" "g.85401085G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84857854G>A" "" "likely benign" "" "0000615584" "0" "30" "15" "85401271" "85401271" "subst" "0.000204244" "02327" "ALPK3_000157" "g.85401271G>A" "" "" "" "ALPK3(NM_020778.5):c.3302G>A (p.G1101D, p.(Gly1101Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858040G>A" "" "likely benign" "" "0000615585" "0" "50" "15" "85401524" "85401529" "dup" "0" "02325" "ALPK3_000163" "g.85401524_85401529dup" "" "" "" "ALPK3(NM_020778.5):c.3555_3560dupAAGGGA (p.R1186_E1187dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858293_84858298dup" "" "VUS" "" "0000615586" "0" "30" "15" "85401549" "85401549" "subst" "7.39208E-5" "02327" "ALPK3_000211" "g.85401549C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858318C>T" "" "likely benign" "" "0000615587" "0" "30" "15" "85401651" "85401651" "subst" "0.000290662" "01943" "ALPK3_000167" "g.85401651C>T" "" "" "" "ALPK3(NM_020778.4):c.4288C>T (p.R1430W, p.(Arg1430Trp)), ALPK3(NM_020778.5):c.3682C>T (p.R1228W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858420C>T" "" "likely benign" "" "0000615588" "0" "30" "15" "85401712" "85401712" "subst" "0" "02327" "ALPK3_000212" "g.85401712A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858481A>G" "" "likely benign" "" "0000615589" "0" "10" "15" "85401755" "85401755" "subst" "8.52265E-5" "02330" "ALPK3_000213" "g.85401755C>G" "" "" "" "ALPK3(NM_020778.5):c.3786C>G (p.A1262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858524C>G" "" "benign" "" "0000615590" "0" "30" "15" "85402488" "85402488" "subst" "0.000215269" "02327" "ALPK3_000021" "g.85402488C>T" "" "" "" "ALPK3(NM_020778.4):c.4438C>T (p.R1480W), ALPK3(NM_020778.5):c.3832C>T (p.R1278W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859257C>T" "" "likely benign" "" "0000615591" "0" "50" "15" "85402497" "85402497" "subst" "2.84276E-5" "02327" "ALPK3_000214" "g.85402497C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859266C>T" "" "VUS" "" "0000615592" "0" "30" "15" "85403097" "85403097" "subst" "0.000337311" "02327" "ALPK3_000025" "g.85403097C>T" "" "" "" "ALPK3(NM_020778.4):c.4662C>T (p.H1554=), ALPK3(NM_020778.5):c.4056C>T (p.H1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859866C>T" "" "likely benign" "" "0000615593" "0" "50" "15" "85403133" "85403133" "subst" "9.34959E-5" "02330" "ALPK3_000175" "g.85403133G>C" "" "" "" "ALPK3(NM_020778.4):c.4698G>C (p.E1566D), ALPK3(NM_020778.5):c.4092G>C (p.E1364D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859902G>C" "" "VUS" "" "0000615594" "0" "10" "15" "85405851" "85405851" "subst" "0" "02330" "ALPK3_000215" "g.85405851C>G" "" "" "" "ALPK3(NM_020778.5):c.4130-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84862620C>G" "" "benign" "" "0000615595" "0" "50" "15" "85405890" "85405890" "del" "0" "01943" "ALPK3_000176" "g.85405890del" "" "" "" "ALPK3(NM_020778.4):c.4760delC (p.P1587Lfs*23), ALPK3(NM_020778.5):c.4154delC (p.P1385Lfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84862659del" "" "VUS" "" "0000615596" "0" "50" "15" "85405931" "85405931" "subst" "0" "02330" "ALPK3_000216" "g.85405931G>C" "" "" "" "ALPK3(NM_020778.5):c.4195G>C (p.G1399R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84862700G>C" "" "VUS" "" "0000615597" "0" "50" "15" "85406801" "85406801" "subst" "2.03206E-5" "02327" "ALPK3_000217" "g.85406801A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84863570A>G" "" "VUS" "" "0000615598" "0" "30" "15" "85406820" "85406820" "subst" "0.000101587" "02327" "ALPK3_000218" "g.85406820A>G" "" "" "" "ALPK3(NM_020778.5):c.4448A>G (p.K1483R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84863589A>G" "" "likely benign" "" "0000615599" "0" "50" "15" "85411509" "85411509" "subst" "1.2189E-5" "02330" "ALPK3_000220" "g.85411509G>A" "" "" "" "ALPK3(NM_020778.5):c.4940G>A (p.R1647K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868278G>A" "" "VUS" "" "0000623312" "0" "70" "15" "85360618" "85360618" "del" "0" "02330" "ALPK3_000196" "g.85360618del" "" "" "" "ALPK3(NM_020778.5):c.-66delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84817387del" "" "likely pathogenic" "" "0000623313" "0" "30" "15" "85383783" "85383783" "subst" "0" "01943" "ALPK3_000202" "g.85383783G>A" "" "" "" "ALPK3(NM_020778.4):c.1879G>A (p.A627T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840552G>A" "" "likely benign" "" "0000623314" "0" "50" "15" "85384050" "85384050" "subst" "0" "02330" "ALPK3_000203" "g.85384050G>C" "" "" "" "ALPK3(NM_020778.5):c.1540G>C (p.G514R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840819G>C" "" "VUS" "" "0000623315" "0" "50" "15" "85384148" "85384148" "subst" "0" "02330" "ALPK3_000204" "g.85384148C>G" "" "" "" "ALPK3(NM_020778.5):c.1638C>G (p.H546Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840917C>G" "" "VUS" "" "0000623316" "0" "30" "15" "85407795" "85407795" "subst" "4.87266E-5" "01943" "ALPK3_000219" "g.85407795C>T" "" "" "" "ALPK3(NM_020778.4):c.5228C>T (p.P1743L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84864564C>T" "" "likely benign" "" "0000623317" "0" "50" "15" "85411599" "85411599" "subst" "1.22033E-5" "02330" "ALPK3_000221" "g.85411599C>T" "" "" "" "ALPK3(NM_020778.5):c.5030C>T (p.T1677I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84868368C>T" "" "VUS" "" "0000649169" "1" "30" "15" "85382307" "85382307" "subst" "0.0109635" "03575" "ALPK3_000063" "g.85382307G>A" "61/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "61 heterozygous, no homozygous; {DB:CLININrs34407151}" "Germline" "" "rs34407151" "0" "" "" "g.84839076G>A" "" "likely benign" "" "0000649170" "1" "10" "15" "85383709" "85383709" "subst" "0.0211284" "03575" "ALPK3_000073" "g.85383709A>G" "28/2726 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous, no homozygous; {DB:CLININrs55702300}" "Germline" "" "rs55702300" "0" "" "" "g.84840478A>G" "" "benign" "" "0000649172" "1" "10" "15" "85403105" "85403105" "subst" "0.0164154" "03575" "ALPK3_000027" "g.85403105C>A" "41/2778 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "41 heterozygous; {DB:CLININrs34775428}" "Germline" "" "rs34775428" "0" "" "" "g.84859874C>A" "" "benign" "" "0000657677" "0" "10" "15" "85366567" "85366567" "subst" "0.000304569" "02330" "ALPK3_000222" "g.85366567A>G" "" "" "" "ALPK3(NM_020778.4):c.756A>G (p.S252=), ALPK3(NM_020778.5):c.150A>G (p.S50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84823336A>G" "" "benign" "" "0000657678" "0" "50" "15" "85382990" "85382990" "del" "0" "01943" "ALPK3_000223" "g.85382990del" "" "" "" "ALPK3(NM_020778.4):c.1086delT (p.I362Mfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84839759del" "" "VUS" "" "0000657679" "0" "50" "15" "85383673" "85383673" "subst" "4.08824E-6" "01943" "ALPK3_000224" "g.85383673A>T" "" "" "" "ALPK3(NM_020778.4):c.1769A>T (p.K590M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840442A>T" "" "VUS" "" "0000657680" "0" "10" "15" "85383892" "85383892" "subst" "0.00104445" "02330" "ALPK3_000076" "g.85383892G>A" "" "" "" "ALPK3(NM_020778.4):c.1988G>A (p.G663D), ALPK3(NM_020778.5):c.1382G>A (p.G461D, p.(Gly461Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840661G>A" "" "benign" "" "0000657681" "0" "50" "15" "85384084" "85384084" "subst" "1.62816E-5" "02325" "ALPK3_000225" "g.85384084C>T" "" "" "" "ALPK3(NM_020778.5):c.1574C>T (p.P525L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84840853C>T" "" "VUS" "" "0000657682" "0" "10" "15" "85400141" "85400141" "subst" "8.13279E-6" "02330" "ALPK3_000226" "g.85400141T>G" "" "" "" "ALPK3(NM_020778.5):c.2172T>G (p.S724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84856910T>G" "" "benign" "" "0000657683" "0" "30" "15" "85401671" "85401671" "subst" "0.000248209" "01943" "ALPK3_000019" "g.85401671G>A" "" "" "" "ALPK3(NM_020778.4):c.4308G>A (p.A1436=), ALPK3(NM_020778.5):c.3702G>A (p.A1234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84858440G>A" "" "likely benign" "" "0000657684" "0" "50" "15" "85402524" "85402524" "subst" "0" "02325" "ALPK3_000227" "g.85402524G>A" "" "" "" "ALPK3(NM_020778.5):c.3868G>A (p.G1290S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84859293G>A" "" "VUS" "" "0000657685" "0" "50" "15" "85403295" "85403295" "subst" "4.06273E-6" "02330" "ALPK3_000228" "g.85403295A>G" "" "" "" "ALPK3(NM_020778.5):c.4121A>G (p.E1374G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84860064A>G" "" "VUS" "" "0000669301" "3" "10" "15" "85403105" "85403105" "subst" "0.0164154" "03575" "ALPK3_000027" "g.85403105C>A" "1/2778 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs34775428}" "Germline" "" "rs34775428" "0" "" "" "g.84859874C>A" "" "benign" "" "0000680310" "0" "10" "15" "85360302" "85360302" "subst" "0" "02330" "ALPK3_000229" "g.85360302G>T" "" "" "" "ALPK3(NM_020778.5):c.-382G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000680311" "0" "30" "15" "85370811" "85370811" "subst" "0.000113763" "01943" "ALPK3_000230" "g.85370811C>T" "" "" "" "ALPK3(NM_020778.4):c.885C>T (p.D295=), ALPK3(NM_020778.5):c.279C>T (p.D93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680312" "0" "50" "15" "85383199" "85383199" "del" "0" "01943" "ALPK3_000231" "g.85383199del" "" "" "" "ALPK3(NM_020778.4):c.1295delC (p.A432Vfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680313" "0" "30" "15" "85383525" "85383525" "subst" "0.000395215" "02330" "ALPK3_000232" "g.85383525C>T" "" "" "" "ALPK3(NM_020778.5):c.1015C>T (p.R339C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680314" "0" "50" "15" "85399657" "85399657" "subst" "0.000128401" "02330" "ALPK3_000139" "g.85399657T>G" "" "" "" "ALPK3(NM_020778.4):c.2294T>G (p.M765R), ALPK3(NM_020778.5):c.1688T>G (p.M563R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680315" "0" "50" "15" "85399729" "85399729" "subst" "4.06075E-6" "02325" "ALPK3_000233" "g.85399729C>G" "" "" "" "ALPK3(NM_020778.5):c.1760C>G (p.P587R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680316" "0" "50" "15" "85403081" "85403081" "subst" "7.31392E-5" "01943" "ALPK3_000234" "g.85403081C>T" "" "" "" "ALPK3(NM_020778.4):c.4646C>T (p.T1549I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680317" "0" "50" "15" "85406123" "85406123" "subst" "6.09776E-5" "02330" "ALPK3_000235" "g.85406123A>G" "" "" "" "ALPK3(NM_020778.5):c.4387A>G (p.R1463G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680318" "0" "10" "15" "85406845" "85406845" "subst" "4.06616E-6" "02330" "ALPK3_000236" "g.85406845C>A" "" "" "" "ALPK3(NM_020778.5):c.4473C>A (p.A1491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000680319" "0" "50" "15" "85411377" "85411377" "subst" "7.75827E-5" "01804" "ALPK3_000039" "g.85411377T>C" "" "" "" "ALPK3(NM_020778.4):c.5414T>C (p.L1805P, p.(Leu1805Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691881" "0" "30" "15" "85370708" "85370708" "subst" "0.000158475" "01943" "ALPK3_000237" "g.85370708C>T" "" "" "" "ALPK3(NM_020778.4):c.789-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691882" "0" "50" "15" "85383141" "85383141" "subst" "0" "01943" "ALPK3_000238" "g.85383141G>C" "" "" "" "ALPK3(NM_020778.4):c.1237G>C (p.D413H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691883" "0" "50" "15" "85384117" "85384117" "subst" "4.10651E-6" "02330" "ALPK3_000239" "g.85384117G>A" "" "" "" "ALPK3(NM_020778.5):c.1607G>A (p.R536Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691884" "0" "50" "15" "85400401" "85400401" "subst" "0" "02330" "ALPK3_000240" "g.85400401A>G" "" "" "" "ALPK3(NM_020778.5):c.2432A>G (p.E811G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691885" "0" "50" "15" "85400497" "85400497" "subst" "8.14657E-5" "02330" "ALPK3_000241" "g.85400497G>A" "" "" "" "ALPK3(NM_020778.5):c.2528G>A (p.R843Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691886" "0" "50" "15" "85400998" "85400998" "subst" "0" "01943" "ALPK3_000242" "g.85400998C>T" "" "" "" "ALPK3(NM_020778.4):c.3635C>T (p.T1212I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691887" "0" "50" "15" "85401018" "85401018" "subst" "2.04238E-5" "02325" "ALPK3_000243" "g.85401018C>T" "" "" "" "ALPK3(NM_020778.5):c.3049C>T (p.R1017C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691888" "0" "30" "15" "85401310" "85401310" "subst" "0" "01943" "ALPK3_000244" "g.85401310G>A" "" "" "" "ALPK3(NM_020778.4):c.3947G>A (p.R1316Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691889" "0" "50" "15" "85401500" "85401500" "subst" "5.37582E-5" "02330" "ALPK3_000245" "g.85401500C>G" "" "" "" "ALPK3(NM_020778.4):c.4137C>G (p.D1379E), ALPK3(NM_020778.5):c.3531C>G (p.D1177E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691890" "0" "30" "15" "85401500" "85401500" "subst" "5.37582E-5" "01943" "ALPK3_000245" "g.85401500C>G" "" "" "" "ALPK3(NM_020778.4):c.4137C>G (p.D1379E), ALPK3(NM_020778.5):c.3531C>G (p.D1177E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691891" "0" "50" "15" "85402498" "85402498" "subst" "4.06134E-6" "02325" "ALPK3_000246" "g.85402498G>A" "" "" "" "ALPK3(NM_020778.5):c.3842G>A (p.R1281Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691892" "0" "50" "15" "85407695" "85407695" "subst" "0" "02325" "ALPK3_000247" "g.85407695T>C" "" "" "" "ALPK3(NM_020778.5):c.4522T>C (p.Y1508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725328" "0" "10" "15" "85360071" "85360071" "subst" "0.000101073" "02330" "ALPK3_000248" "g.85360071G>A" "" "" "" "ALPK3(NM_020778.5):c.-613G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725329" "0" "10" "15" "85360440" "85360440" "subst" "0" "02330" "ALPK3_000249" "g.85360440C>A" "" "" "" "ALPK3(NM_020778.5):c.-244C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725330" "0" "50" "15" "85382938" "85382938" "subst" "0" "02330" "ALPK3_000066" "g.85382938G>A" "" "" "" "ALPK3(NM_020778.5):c.428G>A (p.R143Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725331" "0" "50" "15" "85383226" "85383226" "subst" "0.000110387" "02330" "ALPK3_000250" "g.85383226C>T" "" "" "" "ALPK3(NM_020778.5):c.716C>T (p.T239I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725332" "0" "50" "15" "85383403" "85383403" "subst" "8.13279E-6" "02330" "ALPK3_000251" "g.85383403A>G" "" "" "" "ALPK3(NM_020778.5):c.893A>G (p.D298G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725333" "0" "50" "15" "85383448" "85383448" "subst" "0.00025247" "02325" "ALPK3_000070" "g.85383448G>A" "" "" "" "ALPK3(NM_020778.4):c.1544G>A (p.G515E), ALPK3(NM_020778.5):c.938G>A (p.G313E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725334" "0" "50" "15" "85400115" "85400115" "subst" "0.000134158" "02330" "ALPK3_000252" "g.85400115G>A" "" "" "" "ALPK3(NM_020778.5):c.2146G>A (p.A716T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725335" "0" "50" "15" "85400334" "85400334" "subst" "0" "02330" "ALPK3_000253" "g.85400334A>T" "" "" "" "ALPK3(NM_020778.5):c.2365A>T (p.T789S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725336" "0" "50" "15" "85400413" "85400413" "subst" "6.50369E-5" "01943" "ALPK3_000254" "g.85400413G>A" "" "" "" "ALPK3(NM_020778.4):c.3050G>A (p.G1017E), ALPK3(NM_020778.5):c.2444G>A (p.G815E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725337" "0" "50" "15" "85400611" "85400611" "subst" "4.06755E-5" "02325" "ALPK3_000255" "g.85400611C>T" "" "" "" "ALPK3(NM_020778.5):c.2642C>T (p.A881V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725338" "0" "50" "15" "85400628" "85400628" "subst" "2.03355E-5" "02330" "ALPK3_000256" "g.85400628C>T" "" "" "" "ALPK3(NM_020778.4):c.3265C>T (p.P1089S), ALPK3(NM_020778.5):c.2659C>T (p.P887S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725339" "0" "30" "15" "85400643" "85400643" "subst" "0.000199448" "01943" "ALPK3_000098" "g.85400643G>A" "" "" "" "ALPK3(NM_020778.4):c.3280G>A (p.G1094R), ALPK3(NM_020778.5):c.2674G>A (p.G892R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725340" "0" "50" "15" "85400995" "85400995" "subst" "0.000126488" "01943" "ALPK3_000156" "g.85400995G>A" "" "" "" "ALPK3(NM_020778.4):c.3632G>A (p.R1211Q), ALPK3(NM_020778.5):c.3026G>A (p.R1009Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725341" "0" "70" "15" "85401609" "85401612" "dup" "0" "02330" "ALPK3_000165" "g.85401609_85401612dup" "" "" "" "ALPK3(NM_020778.4):c.4246_4249dupTCCC (p.P1417Lfs*42), ALPK3(NM_020778.5):c.3640_3643dupTCCC (p.P1215Lfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725342" "0" "10" "15" "85401617" "85401617" "subst" "0" "02330" "ALPK3_000257" "g.85401617G>T" "" "" "" "ALPK3(NM_020778.5):c.3648G>T (p.T1216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725343" "0" "50" "15" "85406064" "85406064" "subst" "4.06085E-6" "02330" "ALPK3_000258" "g.85406064T>C" "" "" "" "ALPK3(NM_020778.5):c.4328T>C (p.I1443T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806953" "0" "30" "15" "85360319" "85360319" "subst" "0.000750306" "01943" "ALPK3_000109" "g.85360319C>T" "" "" "" "ALPK3(NM_020778.4):c.242C>T (p.T81M), ALPK3(NM_020778.5):c.-365C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806954" "0" "50" "15" "85360394" "85360394" "subst" "0" "02330" "ALPK3_000259" "g.85360394G>T" "" "" "" "ALPK3(NM_020778.5):c.-290G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806955" "0" "30" "15" "85360601" "85360601" "subst" "0" "01943" "ALPK3_000052" "g.85360601C>G" "" "" "" "ALPK3(NM_020778.4):c.524C>G (p.A175G), ALPK3(NM_020778.5):c.-83C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806956" "0" "50" "15" "85370800" "85370800" "subst" "3.25029E-5" "02325" "ALPK3_000260" "g.85370800G>C" "" "" "" "ALPK3(NM_020778.5):c.268G>C (p.E90Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806957" "0" "10" "15" "85382313" "85382313" "subst" "0.000459919" "02330" "ALPK3_000261" "g.85382313C>T" "" "" "" "ALPK3(NM_020778.5):c.407C>T (p.T136I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806958" "0" "30" "15" "85383236" "85383236" "subst" "7.7551E-5" "01943" "ALPK3_000006" "g.85383236T>C" "" "" "" "ALPK3(NM_020778.4):c.1332T>C (p.P444=), ALPK3(NM_020778.5):c.726T>C (p.P242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806959" "0" "30" "15" "85383392" "85383392" "subst" "0.000341405" "01943" "ALPK3_000262" "g.85383392A>G" "" "" "" "ALPK3(NM_020778.4):c.1488A>G (p.T496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806960" "0" "30" "15" "85383641" "85383641" "subst" "0" "01943" "ALPK3_000263" "g.85383641G>T" "" "" "" "ALPK3(NM_020778.4):c.1737G>T (p.G579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806961" "0" "50" "15" "85383729" "85383729" "subst" "4.11841E-6" "02330" "ALPK3_000264" "g.85383729C>T" "" "" "" "ALPK3(NM_020778.5):c.1219C>T (p.P407S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806962" "0" "50" "15" "85383903" "85383903" "subst" "3.94889E-5" "02325" "ALPK3_000265" "g.85383903C>A" "" "" "" "ALPK3(NM_020778.5):c.1393C>A (p.Q465K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806963" "0" "50" "15" "85383946" "85383946" "subst" "0" "02325" "ALPK3_000266" "g.85383946A>G" "" "" "" "ALPK3(NM_020778.5):c.1436A>G (p.N479S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806964" "0" "50" "15" "85384087" "85384087" "subst" "8.14392E-6" "02325" "ALPK3_000267" "g.85384087C>T" "" "" "" "ALPK3(NM_020778.5):c.1577C>T (p.T526M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806965" "0" "50" "15" "85400496" "85400496" "subst" "4.48219E-5" "02325" "ALPK3_000268" "g.85400496C>T" "" "" "" "ALPK3(NM_020778.5):c.2527C>T (p.R843W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806966" "0" "50" "15" "85400517" "85400517" "subst" "4.07116E-6" "02330" "ALPK3_000269" "g.85400517A>G" "" "" "" "ALPK3(NM_020778.5):c.2548A>G (p.M850V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806967" "0" "50" "15" "85400533" "85400533" "subst" "1.22112E-5" "02330" "ALPK3_000270" "g.85400533G>A" "" "" "" "ALPK3(NM_020778.5):c.2564G>A (p.C855Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806968" "0" "50" "15" "85400779" "85400779" "subst" "1.36748E-5" "02330" "ALPK3_000271" "g.85400779C>T" "" "" "" "ALPK3(NM_020778.5):c.2810C>T (p.A937V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806969" "0" "30" "15" "85401144" "85401144" "subst" "8.50282E-6" "01943" "ALPK3_000272" "g.85401144C>G" "" "" "" "ALPK3(NM_020778.4):c.3781C>G (p.R1261G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806970" "0" "10" "15" "85401539" "85401539" "subst" "7.60065E-5" "02330" "ALPK3_000273" "g.85401539G>A" "" "" "" "ALPK3(NM_020778.5):c.3570G>A (p.T1190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806971" "0" "50" "15" "85402548" "85402548" "subst" "2.43669E-5" "02330" "ALPK3_000274" "g.85402548T>C" "" "" "" "ALPK3(NM_020778.5):c.3892T>C (p.F1298L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806972" "0" "50" "15" "85406143" "85406143" "subst" "0" "02325" "ALPK3_000275" "g.85406143C>G" "" "" "" "ALPK3(NM_020778.5):c.4407C>G (p.I1469M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806973" "0" "50" "15" "85406820" "85406820" "subst" "0.000101587" "02325" "ALPK3_000218" "g.85406820A>G" "" "" "" "ALPK3(NM_020778.5):c.4448A>G (p.K1483R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806974" "0" "30" "15" "85406830" "85406830" "subst" "0.000170665" "01943" "ALPK3_000276" "g.85406830A>G" "" "" "" "ALPK3(NM_020778.4):c.5064A>G (p.A1688=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806975" "0" "50" "15" "85410595" "85410595" "subst" "0" "02330" "ALPK3_000277" "g.85410595G>C" "" "" "" "ALPK3(NM_020778.5):c.4771G>C (p.G1591R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806976" "0" "50" "15" "85410597" "85410597" "subst" "0" "01943" "ALPK3_000278" "g.85410597G>T" "" "" "" "ALPK3(NM_020778.4):c.5378+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854210" "0" "50" "15" "85360546" "85360546" "subst" "0" "02330" "ALPK3_000279" "g.85360546C>T" "" "" "" "ALPK3(NM_020778.5):c.-138C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854211" "0" "30" "15" "85370829" "85370829" "subst" "9.75483E-5" "02326" "ALPK3_000121" "g.85370829C>A" "" "" "" "ALPK3(NM_020778.4):c.903C>A (p.I301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854212" "0" "50" "15" "85383163" "85383163" "subst" "9.38929E-5" "02325" "ALPK3_000004" "g.85383163C>T" "" "" "" "ALPK3(NM_020778.5):c.653C>T (p.P218L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854213" "0" "10" "15" "85383892" "85383892" "subst" "0.00104445" "02326" "ALPK3_000076" "g.85383892G>A" "" "" "" "ALPK3(NM_020778.4):c.1988G>A (p.G663D), ALPK3(NM_020778.5):c.1382G>A (p.G461D, p.(Gly461Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854214" "0" "10" "15" "85384174" "85384174" "subst" "0" "02330" "ALPK3_000281" "g.85384174G>T" "" "" "" "ALPK3(NM_020778.5):c.1653+11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854215" "0" "30" "15" "85399657" "85399657" "subst" "2.89937E-5" "02326" "ALPK3_000083" "g.85399657T>C" "" "" "" "ALPK3(NM_020778.4):c.2294T>C (p.M765T), ALPK3(NM_020778.5):c.1688T>C (p.M563T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854216" "0" "50" "15" "85400413" "85400413" "subst" "6.50369E-5" "02326" "ALPK3_000254" "g.85400413G>A" "" "" "" "ALPK3(NM_020778.4):c.3050G>A (p.G1017E), ALPK3(NM_020778.5):c.2444G>A (p.G815E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854217" "0" "30" "15" "85400505" "85400505" "subst" "7.3321E-5" "01943" "ALPK3_000282" "g.85400505G>A" "" "" "" "ALPK3(NM_020778.4):c.3142G>A (p.G1048R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854218" "0" "10" "15" "85401284" "85401284" "subst" "0" "02330" "ALPK3_000158" "g.85401284C>T" "" "" "" "ALPK3(NM_020778.4):c.3921C>T (p.A1307=), ALPK3(NM_020778.5):c.3315C>T (p.A1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854219" "0" "10" "15" "85402523" "85402523" "subst" "0.000426427" "02330" "ALPK3_000171" "g.85402523C>T" "" "" "" "ALPK3(NM_020778.4):c.4473C>T (p.S1491=), ALPK3(NM_020778.5):c.3867C>T (p.S1289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854220" "0" "30" "15" "85402523" "85402523" "subst" "0.000426427" "02326" "ALPK3_000171" "g.85402523C>T" "" "" "" "ALPK3(NM_020778.4):c.4473C>T (p.S1491=), ALPK3(NM_020778.5):c.3867C>T (p.S1289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854221" "0" "50" "15" "85403024" "85403024" "subst" "1.64399E-5" "02330" "ALPK3_000286" "g.85403024C>T" "" "" "" "ALPK3(NM_020778.5):c.3983C>T (p.P1328L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854222" "0" "30" "15" "85405991" "85405991" "subst" "4.06303E-6" "02326" "ALPK3_000287" "g.85405991G>A" "" "" "" "ALPK3(NM_020778.4):c.4861G>A (p.G1621S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854223" "0" "10" "15" "85411581" "85411581" "subst" "0.00355313" "02326" "ALPK3_000192" "g.85411581C>T" "" "" "" "ALPK3(NM_020778.4):c.5618C>T (p.A1873V), ALPK3(NM_020778.5):c.5012C>T (p.A1671V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863984" "0" "30" "15" "85366575" "85366575" "subst" "0.00421932" "02326" "ALPK3_000060" "g.85366575G>A" "" "" "" "ALPK3(NM_020778.4):c.764G>A (p.R255Q), ALPK3(NM_020778.5):c.158G>A (p.R53Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863985" "0" "10" "15" "85383394" "85383394" "subst" "0.0010122" "02326" "ALPK3_000069" "g.85383394A>G" "" "" "" "ALPK3(NM_020778.4):c.1490A>G (p.Y497C), ALPK3(NM_020778.5):c.884A>G (p.Y295C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863986" "0" "50" "15" "85384099" "85384099" "subst" "4.49453E-5" "02325" "ALPK3_000079" "g.85384099G>A" "" "" "" "ALPK3(NM_020778.5):c.1589G>A (p.R530Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863987" "0" "10" "15" "85384127" "85384127" "subst" "8.30365E-6" "02330" "ALPK3_000280" "g.85384127G>A" "" "" "" "ALPK3(NM_020778.5):c.1617G>A (p.T539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863988" "0" "30" "15" "85400716" "85400716" "subst" "0.000226187" "01943" "ALPK3_000283" "g.85400716T>C" "" "" "" "ALPK3(NM_020778.4):c.3353T>C (p.L1118P), ALPK3(NM_020778.5):c.2747T>C (p.L916P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863989" "0" "10" "15" "85400780" "85400780" "subst" "0.0127019" "01943" "ALPK3_000100" "g.85400780C>G" "" "" "" "ALPK3(NM_020778.4):c.3417C>G (p.A1139=), ALPK3(NM_020778.5):c.2811C>G (p.A937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863990" "0" "50" "15" "85400934" "85400934" "subst" "0.000196223" "01943" "ALPK3_000284" "g.85400934G>A" "" "" "" "ALPK3(NM_020778.4):c.3571G>A (p.G1191R), ALPK3(NM_020778.5):c.2965G>A (p.G989R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863991" "0" "30" "15" "85402630" "85402630" "subst" "4.07628E-6" "01943" "ALPK3_000285" "g.85402630A>G" "" "" "" "ALPK3(NM_020778.4):c.4571+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863992" "0" "10" "15" "85406879" "85406879" "subst" "4.90637E-5" "02330" "ALPK3_000288" "g.85406879C>T" "" "" "" "ALPK3(NM_020778.5):c.4499+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000878851" "0" "70" "15" "85383947" "85383948" "del" "0" "04384" "ALPK3_000289" "g.85383947_85383948del" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "0" "" "" "g.84840716_84840717del" "" "pathogenic" "" "0000879767" "21" "50" "15" "85411581" "85411581" "subst" "0.00355313" "00006" "ALPK3_000192" "g.85411581C>T" "" "{PMID:Carlston 2019:30773818}" "" "" "" "Germline" "" "rs36002219" "0" "" "" "" "" "likely benign" "" "0000892308" "0" "10" "15" "85360086" "85360086" "subst" "0.000299429" "02330" "ALPK3_000290" "g.85360086G>A" "" "" "" "ALPK3(NM_020778.5):c.-598G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892310" "0" "50" "15" "85360269" "85360269" "subst" "0.00125072" "02326" "ALPK3_000291" "g.85360269C>A" "" "" "" "ALPK3(NM_020778.4):c.192C>A (p.C64*), ALPK3(NM_020778.5):c.-415C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892312" "0" "30" "15" "85360377" "85360377" "subst" "3.3599E-5" "02327" "ALPK3_000292" "g.85360377C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892314" "0" "50" "15" "85360621" "85360621" "subst" "0" "02330" "ALPK3_000293" "g.85360621G>C" "" "" "" "ALPK3(NM_020778.5):c.-63G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892315" "0" "50" "15" "85360641" "85360641" "subst" "0" "02330" "ALPK3_000294" "g.85360641G>T" "" "" "" "ALPK3(NM_020778.5):c.-43G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892316" "0" "50" "15" "85360765" "85360765" "subst" "0" "02330" "ALPK3_000115" "g.85360765C>G" "" "" "" "ALPK3(NM_020778.5):c.82C>G (p.P28A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892317" "0" "10" "15" "85366575" "85366575" "subst" "0.00421932" "02327" "ALPK3_000060" "g.85366575G>A" "" "" "" "ALPK3(NM_020778.4):c.764G>A (p.R255Q), ALPK3(NM_020778.5):c.158G>A (p.R53Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892318" "0" "30" "15" "85382307" "85382307" "subst" "0.0109635" "02327" "ALPK3_000063" "g.85382307G>A" "" "" "" "ALPK3(NM_020778.4):c.1007G>A (p.R336H), ALPK3(NM_020778.5):c.401G>A (p.R134H, p.(Arg134His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892320" "0" "50" "15" "85383342" "85383342" "subst" "4.87341E-5" "02326" "ALPK3_000295" "g.85383342G>A" "" "" "" "ALPK3(NM_020778.4):c.1438G>A (p.G480R), ALPK3(NM_020778.5):c.832G>A (p.G278R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892321" "0" "50" "15" "85383622" "85383622" "subst" "8.15042E-6" "02325" "ALPK3_000135" "g.85383622G>C" "" "" "" "ALPK3(NM_020778.5):c.1112G>C (p.R371T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892322" "0" "10" "15" "85383709" "85383709" "subst" "0.0211284" "02327" "ALPK3_000073" "g.85383709A>G" "" "" "" "ALPK3(NM_020778.4):c.1805A>G (p.Q602R), ALPK3(NM_020778.5):c.1199A>G (p.Q400R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892323" "0" "10" "15" "85383833" "85383833" "subst" "1.01656E-5" "02330" "ALPK3_000296" "g.85383833G>A" "" "" "" "ALPK3(NM_020778.5):c.1323G>A (p.A441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892324" "0" "10" "15" "85383839" "85383839" "subst" "0.680209" "02326" "ALPK3_000075" "g.85383839G>A" "" "" "" "ALPK3(NM_020778.4):c.1935G>A (p.G645=), ALPK3(NM_020778.5):c.1329G>A (p.G443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892326" "0" "10" "15" "85384085" "85384085" "subst" "0" "02330" "ALPK3_000138" "g.85384085G>A" "" "" "" "ALPK3(NM_020778.4):c.2181G>A (p.P727=), ALPK3(NM_020778.5):c.1575G>A (p.P525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892327" "0" "50" "15" "85399650" "85399650" "subst" "8.7292E-5" "02330" "ALPK3_000297" "g.85399650C>T" "" "" "" "ALPK3(NM_020778.5):c.1681C>T (p.P561S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892328" "0" "30" "15" "85399657" "85399657" "subst" "2.89937E-5" "02327" "ALPK3_000083" "g.85399657T>C" "" "" "" "ALPK3(NM_020778.4):c.2294T>C (p.M765T), ALPK3(NM_020778.5):c.1688T>C (p.M563T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892329" "0" "50" "15" "85399954" "85399954" "subst" "0" "02330" "ALPK3_000298" "g.85399954T>A" "" "" "" "ALPK3(NM_020778.5):c.1985T>A (p.M662K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892330" "0" "30" "15" "85400141" "85400141" "subst" "8.13279E-6" "02327" "ALPK3_000226" "g.85400141T>G" "" "" "" "ALPK3(NM_020778.5):c.2172T>G (p.S724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892331" "0" "30" "15" "85400204" "85400204" "subst" "8.12447E-6" "02327" "ALPK3_000299" "g.85400204G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892332" "0" "30" "15" "85400336" "85400336" "subst" "0.00277622" "02326" "ALPK3_000091" "g.85400336T>C" "" "" "" "ALPK3(NM_020778.4):c.2973T>C (p.T991=), ALPK3(NM_020778.5):c.2367T>C (p.T789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892333" "0" "50" "15" "85400496" "85400496" "subst" "4.48219E-5" "02330" "ALPK3_000268" "g.85400496C>T" "" "" "" "ALPK3(NM_020778.5):c.2527C>T (p.R843W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892334" "0" "10" "15" "85400499" "85400499" "subst" "0.00926801" "02327" "ALPK3_000092" "g.85400499C>T" "" "" "" "ALPK3(NM_020778.4):c.3136C>T (p.P1046S), ALPK3(NM_020778.5):c.2530C>T (p.P844S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892335" "0" "30" "15" "85400564" "85400564" "subst" "0.00392372" "02326" "ALPK3_000093" "g.85400564C>T" "" "" "" "ALPK3(NM_020778.4):c.3201C>T (p.P1067=), ALPK3(NM_020778.5):c.2595C>T (p.P865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892336" "0" "30" "15" "85400564" "85400564" "subst" "0.00392372" "02327" "ALPK3_000093" "g.85400564C>T" "" "" "" "ALPK3(NM_020778.4):c.3201C>T (p.P1067=), ALPK3(NM_020778.5):c.2595C>T (p.P865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892337" "0" "30" "15" "85400622" "85400622" "subst" "6.50697E-5" "02326" "ALPK3_000150" "g.85400622A>G" "" "" "" "ALPK3(NM_020778.4):c.3259A>G (p.S1087G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892338" "0" "30" "15" "85400622" "85400622" "subst" "6.50697E-5" "02327" "ALPK3_000150" "g.85400622A>G" "" "" "" "ALPK3(NM_020778.4):c.3259A>G (p.S1087G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892339" "0" "10" "15" "85400777" "85400777" "subst" "0.000123289" "02330" "ALPK3_000300" "g.85400777C>T" "" "" "" "ALPK3(NM_020778.5):c.2808C>T (p.C936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892340" "0" "10" "15" "85400780" "85400780" "subst" "0.0127019" "02327" "ALPK3_000100" "g.85400780C>G" "" "" "" "ALPK3(NM_020778.4):c.3417C>G (p.A1139=), ALPK3(NM_020778.5):c.2811C>G (p.A937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892341" "0" "50" "15" "85400803" "85400803" "subst" "4.69629E-6" "02326" "ALPK3_000301" "g.85400803G>A" "" "" "" "ALPK3(NM_020778.4):c.3440G>A (p.R1147Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892342" "0" "50" "15" "85400838" "85400838" "subst" "2.72698E-5" "02325" "ALPK3_000302" "g.85400838A>G" "" "" "" "ALPK3(NM_020778.5):c.2869A>G (p.I957V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892343" "0" "30" "15" "85400933" "85400933" "subst" "0.000167696" "02327" "ALPK3_000154" "g.85400933C>T" "" "" "" "ALPK3(NM_020778.5):c.2964C>T (p.T988=, p.(Thr988=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892344" "0" "10" "15" "85401062" "85401062" "subst" "2.46727E-5" "02330" "ALPK3_000303" "g.85401062G>C" "" "" "" "ALPK3(NM_020778.5):c.3093G>C (p.L1031=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892345" "0" "10" "15" "85401131" "85401131" "subst" "0" "02330" "ALPK3_000304" "g.85401131C>T" "" "" "" "ALPK3(NM_020778.5):c.3162C>T (p.A1054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892346" "0" "10" "15" "85401259" "85401259" "subst" "0.757131" "02326" "ALPK3_000107" "g.85401259C>T" "" "" "" "ALPK3(NM_020778.4):c.3896C>T (p.P1299L), ALPK3(NM_020778.5):c.3290C>T (p.P1097L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892347" "0" "30" "15" "85401370" "85401370" "subst" "0.000997995" "02326" "ALPK3_000009" "g.85401370C>T" "" "" "" "ALPK3(NM_020778.4):c.4007C>T (p.A1336V), ALPK3(NM_020778.5):c.3401C>T (p.A1134V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892348" "0" "10" "15" "85401419" "85401419" "subst" "0.823767" "02326" "ALPK3_000010" "g.85401419T>C" "" "" "" "ALPK3(NM_020778.4):c.4056T>C (p.G1352=), ALPK3(NM_020778.5):c.3450T>C (p.G1150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892349" "0" "50" "15" "85401457" "85401457" "subst" "4.62729E-5" "02325" "ALPK3_000162" "g.85401457C>T" "" "" "" "ALPK3(NM_020778.4):c.4094C>T (p.A1365V, p.(Ala1365Val)), ALPK3(NM_020778.5):c.3488C>T (p.A1163V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892350" "0" "50" "15" "85401485" "85401485" "subst" "0.000120772" "02327" "ALPK3_000305" "g.85401485C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892351" "0" "10" "15" "85401597" "85401597" "subst" "0.0116535" "02326" "ALPK3_000016" "g.85401597C>T" "" "" "" "ALPK3(NM_020778.4):c.4234C>T (p.R1412W), ALPK3(NM_020778.5):c.3628C>T (p.R1210W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892352" "0" "30" "15" "85401597" "85401597" "subst" "0.0116535" "02327" "ALPK3_000016" "g.85401597C>T" "" "" "" "ALPK3(NM_020778.4):c.4234C>T (p.R1412W), ALPK3(NM_020778.5):c.3628C>T (p.R1210W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892353" "0" "30" "15" "85401598" "85401598" "subst" "4.61516E-5" "02327" "ALPK3_000017" "g.85401598G>A" "" "" "" "ALPK3(NM_020778.5):c.3629G>A (p.R1210Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892354" "0" "50" "15" "85401651" "85401651" "subst" "0.000290662" "02330" "ALPK3_000167" "g.85401651C>T" "" "" "" "ALPK3(NM_020778.4):c.4288C>T (p.R1430W, p.(Arg1430Trp)), ALPK3(NM_020778.5):c.3682C>T (p.R1228W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892355" "0" "30" "15" "85401725" "85401725" "subst" "2.03318E-5" "02327" "ALPK3_000306" "g.85401725C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892356" "0" "10" "15" "85402431" "85402431" "subst" "0.226307" "02326" "ALPK3_000307" "g.85402431G>A" "" "" "" "ALPK3(NM_020778.4):c.4424-43G>A, ALPK3(NM_020778.5):c.3818-43G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892357" "0" "10" "15" "85403105" "85403105" "subst" "0.0164154" "02327" "ALPK3_000027" "g.85403105C>A" "" "" "" "ALPK3(NM_020778.4):c.4670C>A (p.A1557D), ALPK3(NM_020778.5):c.4064C>A (p.A1355D, p.(Ala1355Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892358" "0" "90" "15" "85406127" "85406127" "del" "0" "02326" "ALPK3_000034" "g.85406127del" "" "" "" "ALPK3(NM_020778.4):c.4997delA (p.N1666Tfs*14), ALPK3(NM_020778.5):c.4391delA (p.N1464Tfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892359" "0" "10" "15" "85406494" "85406494" "subst" "0" "02326" "ALPK3_000308" "g.85406494A>C" "" "" "" "ALPK3(NM_020778.4):c.5017-289A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892360" "0" "30" "15" "85406885" "85406885" "subst" "3.69601E-5" "02326" "ALPK3_000309" "g.85406885G>A" "" "" "" "ALPK3(NM_020778.4):c.5105+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892361" "0" "10" "15" "85407564" "85407564" "subst" "0" "02326" "ALPK3_000310" "g.85407564A>C" "" "" "" "ALPK3(NM_020778.4):c.5106-109A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892362" "0" "50" "15" "85407717" "85407717" "subst" "0" "02326" "ALPK3_000311" "g.85407717C>T" "" "" "" "ALPK3(NM_020778.4):c.5150C>T (p.P1717L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892363" "0" "90" "15" "85407729" "85407729" "subst" "0" "02330" "ALPK3_000312" "g.85407729T>A" "" "" "" "ALPK3(NM_020778.5):c.4556T>A (p.L1519Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892364" "0" "50" "15" "85407748" "85407748" "subst" "3.65453E-5" "02325" "ALPK3_000313" "g.85407748G>T" "" "" "" "ALPK3(NM_020778.5):c.4575G>T (p.K1525N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892365" "0" "90" "15" "85407861" "85407861" "subst" "0" "02327" "ALPK3_000184" "g.85407861G>A" "" "" "" "ALPK3(NM_020778.4):c.5294G>A (p.W1765*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892366" "0" "50" "15" "85411416" "85411416" "subst" "0" "02327" "ALPK3_000314" "g.85411416A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892367" "0" "50" "15" "85411508" "85411508" "subst" "0.000467225" "02327" "ALPK3_000315" "g.85411508A>T" "" "" "" "ALPK3(NM_020778.5):c.4939A>T (p.R1647W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892368" "0" "30" "15" "85411581" "85411581" "subst" "0.00355313" "02327" "ALPK3_000192" "g.85411581C>T" "" "" "" "ALPK3(NM_020778.4):c.5618C>T (p.A1873V), ALPK3(NM_020778.5):c.5012C>T (p.A1671V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914380" "0" "10" "15" "85360818" "85360818" "subst" "0.000561325" "02330" "ALPK3_000059" "g.85360818C>T" "" "" "" "ALPK3(NM_020778.4):c.741C>T (p.P247=), ALPK3(NM_020778.5):c.135C>T (p.P45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914381" "0" "10" "15" "85382193" "85382193" "subst" "0.671991" "02325" "ALPK3_000062" "g.85382193C>A" "" "" "" "ALPK3(NM_020778.4):c.911-18C>A, ALPK3(NM_020778.5):c.305-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914382" "0" "10" "15" "85383145" "85383145" "subst" "0.219614" "02325" "ALPK3_000125" "g.85383145C>G" "" "" "" "ALPK3(NM_020778.4):c.1241C>G (p.T414S), ALPK3(NM_020778.5):c.635C>G (p.T212S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914383" "0" "10" "15" "85383640" "85383640" "subst" "0.220171" "02325" "ALPK3_000072" "g.85383640G>A" "" "" "" "ALPK3(NM_020778.4):c.1736G>A (p.G579E), ALPK3(NM_020778.5):c.1130G>A (p.G377E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914384" "0" "10" "15" "85383839" "85383839" "subst" "0.680209" "02325" "ALPK3_000075" "g.85383839G>A" "" "" "" "ALPK3(NM_020778.4):c.1935G>A (p.G645=), ALPK3(NM_020778.5):c.1329G>A (p.G443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914385" "0" "10" "15" "85384032" "85384032" "subst" "0.00115342" "02326" "ALPK3_000078" "g.85384032T>G" "" "" "" "ALPK3(NM_020778.4):c.2128T>G (p.C710G), ALPK3(NM_020778.5):c.1522T>G (p.C508G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914386" "0" "50" "15" "85400080" "85400097" "del" "0" "02330" "ALPK3_000316" "g.85400080_85400097del" "" "" "" "ALPK3(NM_020778.5):c.2111_2128delTGCAGGGAGAGAAGGGGA (p.M704_G709del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914387" "0" "10" "15" "85401259" "85401259" "subst" "0.757131" "02325" "ALPK3_000107" "g.85401259C>T" "" "" "" "ALPK3(NM_020778.4):c.3896C>T (p.P1299L), ALPK3(NM_020778.5):c.3290C>T (p.P1097L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914388" "0" "10" "15" "85401419" "85401419" "subst" "0.823767" "02325" "ALPK3_000010" "g.85401419T>C" "" "" "" "ALPK3(NM_020778.4):c.4056T>C (p.G1352=), ALPK3(NM_020778.5):c.3450T>C (p.G1150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914389" "0" "10" "15" "85402431" "85402431" "subst" "0.226307" "02325" "ALPK3_000307" "g.85402431G>A" "" "" "" "ALPK3(NM_020778.4):c.4424-43G>A, ALPK3(NM_020778.5):c.3818-43G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914390" "0" "30" "15" "85403064" "85403064" "subst" "7.31874E-5" "02326" "ALPK3_000174" "g.85403064C>T" "" "" "" "ALPK3(NM_020778.4):c.4629C>T (p.C1543=), ALPK3(NM_020778.5):c.4023C>T (p.C1341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914391" "0" "10" "15" "85405995" "85405995" "subst" "0.230435" "02325" "ALPK3_000033" "g.85405995T>C" "" "" "" "ALPK3(NM_020778.4):c.4865T>C (p.L1622P), ALPK3(NM_020778.5):c.4259T>C (p.L1420P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914392" "0" "50" "15" "85411388" "85411388" "subst" "0" "02327" "ALPK3_000317" "g.85411388T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914393" "0" "10" "15" "85411459" "85411459" "subst" "8.12499E-6" "02330" "ALPK3_000318" "g.85411459G>A" "" "" "" "ALPK3(NM_020778.5):c.4890G>A (p.A1630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914394" "0" "30" "15" "85411633" "85411633" "subst" "0.000130757" "02326" "ALPK3_000043" "g.85411633G>A" "" "" "" "ALPK3(NM_020778.4):c.5670G>A (p.L1890=), ALPK3(NM_020778.5):c.5064G>A (p.L1688=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926046" "0" "10" "15" "85360252" "85360252" "subst" "0.00138413" "02326" "ALPK3_000002" "g.85360252C>G" "" "" "" "ALPK3(NM_020778.4):c.175C>G (p.R59G, p.(Arg59Gly)), ALPK3(NM_020778.5):c.-432C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926047" "0" "50" "15" "85360445" "85360445" "subst" "0" "02326" "ALPK3_000049" "g.85360445C>T" "" "" "" "ALPK3(NM_020778.4):c.368C>T (p.P123L), ALPK3(NM_020778.5):c.-239C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926048" "0" "50" "15" "85370712" "85370712" "subst" "0" "02330" "ALPK3_000319" "g.85370712T>G" "" "" "" "ALPK3(NM_020778.5):c.183-3T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926049" "0" "30" "15" "85382938" "85382938" "subst" "0" "02327" "ALPK3_000066" "g.85382938G>A" "" "" "" "ALPK3(NM_020778.5):c.428G>A (p.R143Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926050" "0" "50" "15" "85383079" "85383079" "subst" "4.06471E-6" "02330" "ALPK3_000320" "g.85383079C>T" "" "" "" "ALPK3(NM_020778.5):c.569C>T (p.A190V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926051" "0" "50" "15" "85383301" "85383301" "subst" "6.09246E-5" "02330" "ALPK3_000321" "g.85383301G>T" "" "" "" "ALPK3(NM_020778.5):c.791G>T (p.G264V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926052" "0" "50" "15" "85383342" "85383342" "subst" "4.87341E-5" "02330" "ALPK3_000295" "g.85383342G>A" "" "" "" "ALPK3(NM_020778.4):c.1438G>A (p.G480R), ALPK3(NM_020778.5):c.832G>A (p.G278R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926053" "0" "10" "15" "85400150" "85400150" "subst" "0.000256145" "02330" "ALPK3_000143" "g.85400150G>C" "" "" "" "ALPK3(NM_020778.4):c.2787G>C (p.E929D), ALPK3(NM_020778.5):c.2181G>C (p.E727D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926054" "0" "30" "15" "85400934" "85400934" "subst" "0.000196223" "02330" "ALPK3_000284" "g.85400934G>A" "" "" "" "ALPK3(NM_020778.4):c.3571G>A (p.G1191R), ALPK3(NM_020778.5):c.2965G>A (p.G989R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926055" "0" "30" "15" "85401055" "85401055" "subst" "8.21382E-6" "02326" "ALPK3_000322" "g.85401055C>A" "" "" "" "ALPK3(NM_020778.4):c.3692C>A (p.T1231N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926056" "0" "30" "15" "85401500" "85401500" "subst" "0.000127065" "02325" "ALPK3_000012" "g.85401500C>T" "" "" "" "ALPK3(NM_020778.4):c.4137C>T (p.D1379=), ALPK3(NM_020778.5):c.3531C>T (p.D1177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926057" "0" "50" "15" "85401565" "85401565" "subst" "5.79173E-5" "02330" "ALPK3_000164" "g.85401565G>A" "" "" "" "ALPK3(NM_020778.4):c.4202G>A (p.S1401N), ALPK3(NM_020778.5):c.3596G>A (p.S1199N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926058" "0" "30" "15" "85401651" "85401651" "subst" "0.000290662" "02326" "ALPK3_000167" "g.85401651C>T" "" "" "" "ALPK3(NM_020778.4):c.4288C>T (p.R1430W, p.(Arg1430Trp)), ALPK3(NM_020778.5):c.3682C>T (p.R1228W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926059" "0" "50" "15" "85401676" "85401676" "subst" "0" "02325" "ALPK3_000323" "g.85401676G>A" "" "" "" "ALPK3(NM_020778.5):c.3707G>A (p.G1236E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926060" "0" "10" "15" "85403112" "85403112" "subst" "9.34769E-5" "02330" "ALPK3_000324" "g.85403112C>T" "" "" "" "ALPK3(NM_020778.5):c.4071C>T (p.T1357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926061" "0" "50" "15" "85405892" "85405892" "subst" "5.69416E-5" "02325" "ALPK3_000325" "g.85405892A>G" "" "" "" "ALPK3(NM_020778.5):c.4156A>G (p.M1386V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926062" "0" "50" "15" "85405908" "85405908" "subst" "0" "02325" "ALPK3_000326" "g.85405908G>C" "" "" "" "ALPK3(NM_020778.5):c.4172G>C (p.G1391A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926063" "0" "30" "15" "85407799" "85407799" "subst" "0" "02330" "ALPK3_000327" "g.85407799A>G" "" "" "" "ALPK3(NM_020778.5):c.4626A>G (p.T1542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926064" "0" "50" "15" "85411432" "85411432" "dup" "0" "02325" "ALPK3_000328" "g.85411432dup" "" "" "" "ALPK3(NM_020778.5):c.4863dupG (p.L1622Afs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930440" "0" "10" "15" "85360787" "85360787" "subst" "0.000978058" "02326" "ALPK3_000057" "g.85360787C>T" "" "" "" "ALPK3(NM_020778.4):c.710C>T (p.A237V), ALPK3(NM_020778.5):c.104C>T (p.A35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930441" "0" "10" "15" "85370597" "85370597" "subst" "0" "02326" "ALPK3_000329" "g.85370597C>G" "" "" "" "ALPK3(NM_020778.4):c.789-118C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930442" "0" "50" "15" "85370788" "85370788" "subst" "3.65625E-5" "02325" "ALPK3_000330" "g.85370788C>T" "" "" "" "ALPK3(NM_020778.5):c.256C>T (p.R86W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930443" "0" "90" "15" "85383201" "85383201" "subst" "1.23936E-5" "02329" "ALPK3_000331" "g.85383201C>T" "" "" "" "ALPK3(NM_020778.5):c.691C>T (p.Q231*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930444" "0" "50" "15" "85383637" "85383637" "subst" "0" "02330" "ALPK3_000332" "g.85383637G>A" "" "" "" "ALPK3(NM_020778.5):c.1127G>A (p.R376Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930445" "0" "50" "15" "85383967" "85383967" "subst" "7.32041E-5" "02330" "ALPK3_000333" "g.85383967C>T" "" "" "" "ALPK3(NM_020778.5):c.1457C>T (p.P486L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930446" "0" "50" "15" "85400245" "85400245" "subst" "0" "02330" "ALPK3_000334" "g.85400245C>T" "" "" "" "ALPK3(NM_020778.5):c.2276C>T (p.T759I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930447" "0" "50" "15" "85401006" "85401006" "subst" "3.6732E-5" "02330" "ALPK3_000103" "g.85401006C>T" "" "" "" "ALPK3(NM_020778.4):c.3643C>T (p.R1215C), ALPK3(NM_020778.5):c.3037C>T (p.R1013C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930448" "0" "90" "15" "85401144" "85401144" "subst" "3.40113E-5" "02325" "ALPK3_000106" "g.85401144C>T" "" "" "" "ALPK3(NM_020778.4):c.3781C>T (p.R1261*), ALPK3(NM_020778.5):c.3175C>T (p.R1059*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930449" "0" "50" "15" "85402548" "85402548" "subst" "2.43669E-5" "02325" "ALPK3_000274" "g.85402548T>C" "" "" "" "ALPK3(NM_020778.5):c.3892T>C (p.F1298L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930450" "0" "50" "15" "85402608" "85402608" "subst" "4.8765E-5" "02330" "ALPK3_000335" "g.85402608G>A" "" "" "" "ALPK3(NM_020778.5):c.3952G>A (p.E1318K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930451" "0" "10" "15" "85402795" "85402795" "subst" "0" "02326" "ALPK3_000336" "g.85402795A>G" "" "" "" "ALPK3(NM_020778.4):c.4571+174A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930452" "0" "30" "15" "85403102" "85403102" "subst" "0" "02327" "ALPK3_000337" "g.85403102C>G" "" "" "" "ALPK3(NM_020778.5):c.4061C>G (p.S1354W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930453" "0" "90" "15" "85405890" "85405890" "del" "0" "02326" "ALPK3_000176" "g.85405890del" "" "" "" "ALPK3(NM_020778.4):c.4760delC (p.P1587Lfs*23), ALPK3(NM_020778.5):c.4154delC (p.P1385Lfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930454" "0" "10" "15" "85405995" "85405995" "subst" "0.230435" "02326" "ALPK3_000033" "g.85405995T>C" "" "" "" "ALPK3(NM_020778.4):c.4865T>C (p.L1622P), ALPK3(NM_020778.5):c.4259T>C (p.L1420P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930455" "0" "90" "15" "85406795" "85406795" "subst" "0" "02330" "ALPK3_000338" "g.85406795C>T" "" "" "" "ALPK3(NM_020778.5):c.4423C>T (p.Q1475*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930456" "0" "30" "15" "85406880" "85406880" "subst" "4.91404E-5" "02330" "ALPK3_000339" "g.85406880G>A" "" "" "" "ALPK3(NM_020778.5):c.4499+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930457" "0" "10" "15" "85406880" "85406880" "subst" "4.09504E-6" "02330" "ALPK3_000340" "g.85406880G>T" "" "" "" "ALPK3(NM_020778.5):c.4499+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930458" "0" "50" "15" "85411629" "85411629" "subst" "8.1612E-6" "02330" "ALPK3_000341" "g.85411629A>C" "" "" "" "ALPK3(NM_020778.5):c.5060A>C (p.Q1687P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930459" "0" "30" "15" "85411660" "85411660" "subst" "0.000608001" "02326" "ALPK3_000044" "g.85411660G>A" "" "" "" "ALPK3(NM_020778.4):c.5697G>A (p.E1899=), ALPK3(NM_020778.5):c.5091G>A (p.E1697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950449" "0" "10" "15" "85370811" "85370811" "subst" "0.000113763" "02330" "ALPK3_000230" "g.85370811C>T" "" "" "" "ALPK3(NM_020778.4):c.885C>T (p.D295=), ALPK3(NM_020778.5):c.279C>T (p.D93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950450" "0" "50" "15" "85382228" "85382228" "subst" "6.12085E-5" "02325" "ALPK3_000342" "g.85382228G>A" "" "" "" "ALPK3(NM_020778.5):c.322G>A (p.V108M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950451" "0" "50" "15" "85383168" "85383168" "subst" "4.0867E-6" "02330" "ALPK3_000343" "g.85383168C>T" "" "" "" "ALPK3(NM_020778.5):c.658C>T (p.R220C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950452" "0" "50" "15" "85383561" "85383561" "subst" "4.07196E-6" "02330" "ALPK3_000344" "g.85383561G>A" "" "" "" "ALPK3(NM_020778.5):c.1051G>A (p.E351K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950453" "0" "50" "15" "85384084" "85384084" "subst" "1.62816E-5" "02327" "ALPK3_000225" "g.85384084C>T" "" "" "" "ALPK3(NM_020778.5):c.1574C>T (p.P525L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950454" "0" "50" "15" "85384096" "85384096" "subst" "7.33855E-5" "02330" "ALPK3_000345" "g.85384096C>T" "" "" "" "ALPK3(NM_020778.5):c.1586C>T (p.A529V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950455" "0" "50" "15" "85401123" "85401123" "subst" "2.50805E-5" "02325" "ALPK3_000346" "g.85401123C>T" "" "" "" "ALPK3(NM_020778.5):c.3154C>T (p.R1052C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950456" "0" "50" "15" "85401457" "85401457" "subst" "4.62729E-5" "01804" "ALPK3_000162" "g.85401457C>T" "" "" "" "ALPK3(NM_020778.4):c.4094C>T (p.A1365V, p.(Ala1365Val)), ALPK3(NM_020778.5):c.3488C>T (p.A1163V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950457" "0" "50" "15" "85402488" "85402488" "subst" "0.000215269" "02326" "ALPK3_000021" "g.85402488C>T" "" "" "" "ALPK3(NM_020778.4):c.4438C>T (p.R1480W), ALPK3(NM_020778.5):c.3832C>T (p.R1278W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950458" "0" "90" "15" "85405865" "85405865" "subst" "1.23886E-5" "02327" "ALPK3_000031" "g.85405865G>A" "" "" "" "ALPK3(NM_020778.4):c.4736-1G>A, ALPK3(NM_020778.5):c.4130-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950459" "0" "50" "15" "85407684" "85407684" "subst" "0" "02330" "ALPK3_000347" "g.85407684T>C" "" "" "" "ALPK3(NM_020778.5):c.4511T>C (p.L1504P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950460" "0" "30" "15" "85411669" "85411669" "subst" "0" "02326" "ALPK3_000045" "g.85411669G>A" "" "" "" "ALPK3(NM_020778.4):c.5706G>A (p.K1902=), ALPK3(NM_020778.5):c.5100G>A (p.K1700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000959826" "0" "70" "15" "85383223" "85383223" "del" "0" "03779" "ALPK3_000348" "g.85383223del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000967992" "0" "50" "15" "85382228" "85382228" "subst" "6.12085E-5" "02330" "ALPK3_000342" "g.85382228G>A" "" "" "" "ALPK3(NM_020778.5):c.322G>A (p.V108M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967993" "0" "50" "15" "85382231" "85382231" "subst" "0" "02330" "ALPK3_000349" "g.85382231A>T" "" "" "" "ALPK3(NM_020778.5):c.325A>T (p.T109S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967994" "0" "50" "15" "85383730" "85383735" "dup" "0" "02325" "ALPK3_000136" "g.85383730_85383735dup" "" "" "" "ALPK3(NM_020778.5):c.1220_1225dupCAGGCC (p.P407_G408dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967995" "0" "50" "15" "85383764" "85383764" "subst" "2.11476E-5" "02330" "ALPK3_000350" "g.85383764G>A" "" "" "" "ALPK3(NM_020778.5):c.1254G>A (p.M418I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967996" "0" "50" "15" "85400413" "85400413" "subst" "6.50369E-5" "02330" "ALPK3_000254" "g.85400413G>A" "" "" "" "ALPK3(NM_020778.4):c.3050G>A (p.G1017E), ALPK3(NM_020778.5):c.2444G>A (p.G815E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967997" "0" "50" "15" "85400628" "85400628" "subst" "2.03355E-5" "02326" "ALPK3_000256" "g.85400628C>T" "" "" "" "ALPK3(NM_020778.4):c.3265C>T (p.P1089S), ALPK3(NM_020778.5):c.2659C>T (p.P887S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967998" "0" "50" "15" "85401456" "85401456" "subst" "4.19583E-6" "02326" "ALPK3_000351" "g.85401456G>C" "" "" "" "ALPK3(NM_020778.4):c.4093G>C (p.A1365P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967999" "0" "30" "15" "85401538" "85401538" "subst" "9.9791E-5" "02327" "ALPK3_000352" "g.85401538C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968000" "0" "50" "15" "85401670" "85401670" "subst" "0" "02330" "ALPK3_000353" "g.85401670C>T" "" "" "" "ALPK3(NM_020778.5):c.3701C>T (p.A1234V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981451" "0" "30" "15" "85360125" "85360129" "dup" "0" "02330" "ALPK3_000354" "g.85360125_85360129dup" "" "" "" "ALPK3(NM_020778.5):c.-562_-558dupGGCGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981452" "0" "30" "15" "85360269" "85360269" "subst" "0.00125072" "02330" "ALPK3_000291" "g.85360269C>A" "" "" "" "ALPK3(NM_020778.4):c.192C>A (p.C64*), ALPK3(NM_020778.5):c.-415C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981453" "0" "30" "15" "85360379" "85360379" "subst" "3.39485E-5" "02330" "ALPK3_000355" "g.85360379G>A" "" "" "" "ALPK3(NM_020778.5):c.-305G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981454" "0" "90" "15" "85360719" "85360744" "del" "0" "02330" "ALPK3_000356" "g.85360719_85360744del" "" "" "" "ALPK3(NM_020778.5):c.36_61delCGCGGGTGGGCGGTCGGGGGCGGGGG (p.A13Rfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981455" "0" "10" "15" "85360734" "85360734" "subst" "0" "02330" "ALPK3_000357" "g.85360734G>T" "" "" "" "ALPK3(NM_020778.5):c.51G>T (p.S17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981456" "0" "50" "15" "85360736" "85360736" "subst" "0" "02330" "ALPK3_000358" "g.85360736G>C" "" "" "" "ALPK3(NM_020778.5):c.53G>C (p.G18A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981457" "0" "30" "15" "85370799" "85370799" "subst" "2.84377E-5" "02326" "ALPK3_000359" "g.85370799C>T" "" "" "" "ALPK3(NM_020778.4):c.873C>T (p.S291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981458" "0" "50" "15" "85382309" "85382309" "subst" "0" "02330" "ALPK3_000360" "g.85382309C>T" "" "" "" "ALPK3(NM_020778.5):c.403C>T (p.H135Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981459" "0" "50" "15" "85383079" "85383079" "subst" "1.21941E-5" "02325" "ALPK3_000361" "g.85383079C>A" "" "" "" "ALPK3(NM_020778.5):c.569C>A (p.A190E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981460" "0" "30" "15" "85383134" "85383134" "subst" "6.10565E-5" "02326" "ALPK3_000067" "g.85383134G>C" "" "" "" "ALPK3(NM_020778.4):c.1230G>C (p.G410=), ALPK3(NM_020778.5):c.624G>C (p.G208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981461" "0" "50" "15" "85400512" "85400512" "subst" "3.6659E-5" "02330" "ALPK3_000362" "g.85400512C>T" "" "" "" "ALPK3(NM_020778.5):c.2543C>T (p.P848L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981462" "0" "50" "15" "85400632" "85400632" "subst" "0" "02325" "ALPK3_000363" "g.85400632C>T" "" "" "" "ALPK3(NM_020778.5):c.2663C>T (p.T888I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981463" "0" "10" "15" "85400716" "85400716" "subst" "0.000226187" "02330" "ALPK3_000283" "g.85400716T>C" "" "" "" "ALPK3(NM_020778.4):c.3353T>C (p.L1118P), ALPK3(NM_020778.5):c.2747T>C (p.L916P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981464" "0" "50" "15" "85401001" "85401001" "subst" "6.93544E-5" "02330" "ALPK3_000364" "g.85401001C>T" "" "" "" "ALPK3(NM_020778.5):c.3032C>T (p.S1011L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981465" "0" "30" "15" "85401106" "85401106" "subst" "0.000190813" "02330" "ALPK3_000365" "g.85401106G>A" "" "" "" "ALPK3(NM_020778.5):c.3137G>A (p.R1046H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981466" "0" "50" "15" "85403102" "85403102" "subst" "0" "02330" "ALPK3_000337" "g.85403102C>G" "" "" "" "ALPK3(NM_020778.5):c.4061C>G (p.S1354W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981467" "0" "90" "15" "85405949" "85405949" "subst" "1.2184E-5" "02330" "ALPK3_000366" "g.85405949C>T" "" "" "" "ALPK3(NM_020778.5):c.4213C>T (p.R1405*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981468" "0" "50" "15" "85407686" "85407686" "subst" "4.06227E-6" "01804" "ALPK3_000181" "g.85407686T>C" "" "" "" "ALPK3(NM_020778.5):c.4513T>C (p.Y1505H, p.(Tyr1505His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985944" "0" "90" "15" "85402592" "85402593" "del" "0" "03779" "ALPK3_000367" "g.85402592_85402593del" "" "" "" "" "" "CLASSIFICATION record" "" "rs2141570299" "0" "" "" "" "" "pathogenic" "" "0000985945" "0" "90" "15" "85402592" "85402593" "del" "0" "03779" "ALPK3_000367" "g.85402592_85402593del" "" "" "" "" "" "CLASSIFICATION record" "" "rs2141570299" "0" "" "" "" "" "pathogenic" "" "0000989255" "0" "50" "15" "85400896" "85400896" "subst" "0" "03779" "ALPK3_000368" "g.85400896G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000989408" "0" "90" "15" "85383200" "85383207" "del" "0" "03779" "ALPK3_000369" "g.85383200_85383207del" "" "" "" "" "" "CLASSIFICATION record" "" "rs750622312" "0" "" "" "" "" "pathogenic" "" "0000989662" "0" "50" "15" "85383751" "85383751" "subst" "8.35192E-6" "02515" "ALPK3_000371" "g.85383751C>G" "" "Fusco 2042, submitted" "" "(Ser414Cys)" "variant not definitively linked to disease; authors confirmed variant reported should be NM_020778.5:c.1241C>G" "Germline" "" "rs758630539" "0" "" "" "g.84840520C>G" "" "VUS" "" "0000989674" "0" "90" "15" "85407678" "85407679" "ins" "0" "02515" "ALPK3_000370" "g.85407678_85407679insACATTCTTAGTGACTCAGTCTT" "" "Fusco 2042, submitted" "" "4505_4526insACATTCTTAGTGACTCAGTCTT" "variant definitively linked to disease; authors confirmed variant reported should be NM_020778.5:c.4505_4506insACATTCTTAGTGACTCAGTCTT" "Germline" "" "" "0" "" "" "g.84864447_84864448insACATTCTTAGTGACTCAGTCTT" "" "pathogenic" "" "0000989938" "0" "30" "15" "85411596" "85411596" "subst" "5.28679E-5" "03779" "ALPK3_000042" "g.85411596C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs150250443" "0" "" "" "" "" "likely benign" "" "0001001714" "0" "50" "15" "85360231" "85360231" "subst" "0.000119947" "02326" "ALPK3_000108" "g.85360231C>T" "" "" "" "ALPK3(NM_020778.4):c.154C>T (p.P52S), ALPK3(NM_020778.5):c.-453C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001715" "0" "30" "15" "85360252" "85360252" "subst" "0.00138413" "01804" "ALPK3_000002" "g.85360252C>G" "" "" "" "ALPK3(NM_020778.4):c.175C>G (p.R59G, p.(Arg59Gly)), ALPK3(NM_020778.5):c.-432C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001716" "0" "50" "15" "85360790" "85360790" "subst" "0" "01804" "ALPK3_000372" "g.85360790G>A" "" "" "" "ALPK3(NM_020778.4):c.713G>A (p.(Ser238Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001717" "0" "30" "15" "85370710" "85370710" "subst" "7.31428E-5" "02326" "ALPK3_000373" "g.85370710C>T" "" "" "" "ALPK3(NM_020778.4):c.789-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001718" "0" "50" "15" "85383448" "85383448" "subst" "0.00025247" "02327" "ALPK3_000070" "g.85383448G>A" "" "" "" "ALPK3(NM_020778.4):c.1544G>A (p.G515E), ALPK3(NM_020778.5):c.938G>A (p.G313E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001719" "0" "50" "15" "85383717" "85383717" "subst" "0.000184819" "01804" "ALPK3_000374" "g.85383717C>T" "" "" "" "ALPK3(NM_020778.4):c.1813C>T (p.(Pro605Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001720" "0" "50" "15" "85399657" "85399657" "subst" "0.000128401" "02325" "ALPK3_000139" "g.85399657T>G" "" "" "" "ALPK3(NM_020778.4):c.2294T>G (p.M765R), ALPK3(NM_020778.5):c.1688T>G (p.M563R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001721" "0" "50" "15" "85399825" "85399825" "subst" "1.62532E-5" "02330" "ALPK3_000375" "g.85399825A>T" "" "" "" "ALPK3(NM_020778.5):c.1856A>T (p.D619V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001722" "0" "30" "15" "85400192" "85400192" "subst" "0.000471242" "02326" "ALPK3_000090" "g.85400192C>T" "" "" "" "ALPK3(NM_020778.4):c.2829C>T (p.L943=), ALPK3(NM_020778.5):c.2223C>T (p.L741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001723" "0" "50" "15" "85400254" "85400254" "subst" "2.03122E-5" "02330" "ALPK3_000376" "g.85400254G>T" "" "" "" "ALPK3(NM_020778.5):c.2285G>T (p.G762V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001724" "0" "50" "15" "85401501" "85401501" "subst" "0" "01804" "ALPK3_000377" "g.85401501G>A" "" "" "" "ALPK3(NM_020778.4):c.4138G>A (p.(Gly1380Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001725" "0" "90" "15" "85401554" "85401554" "del" "0" "02325" "ALPK3_000378" "g.85401554del" "" "" "" "ALPK3(NM_020778.5):c.3585delG (p.R1197Gfs*75)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001726" "0" "50" "15" "85401616" "85401616" "subst" "6.55093E-5" "02330" "ALPK3_000379" "g.85401616C>T" "" "" "" "ALPK3(NM_020778.5):c.3647C>T (p.T1216M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001727" "0" "10" "15" "85401632" "85401632" "subst" "0.000251192" "02330" "ALPK3_000380" "g.85401632G>A" "" "" "" "ALPK3(NM_020778.5):c.3663G>A (p.A1221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001728" "0" "50" "15" "85401651" "85401651" "subst" "0.000290662" "02325" "ALPK3_000167" "g.85401651C>T" "" "" "" "ALPK3(NM_020778.4):c.4288C>T (p.R1430W, p.(Arg1430Trp)), ALPK3(NM_020778.5):c.3682C>T (p.R1228W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001729" "0" "50" "15" "85403024" "85403024" "subst" "1.64399E-5" "02325" "ALPK3_000286" "g.85403024C>T" "" "" "" "ALPK3(NM_020778.5):c.3983C>T (p.P1328L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001730" "0" "50" "15" "85406142" "85406142" "subst" "4.07252E-6" "02326" "ALPK3_000381" "g.85406142T>C" "" "" "" "ALPK3(NM_020778.4):c.5012T>C (p.I1671T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001731" "0" "30" "15" "85406846" "85406846" "subst" "0.000935484" "01804" "ALPK3_000180" "g.85406846G>A" "" "" "" "ALPK3(NM_020778.4):c.5080G>A (p.(Ala1694Thr)), ALPK3(NM_020778.5):c.4474G>A (p.A1492T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001732" "0" "50" "15" "85407901" "85407901" "subst" "8.15182E-6" "01804" "ALPK3_000382" "g.85407901G>T" "" "" "" "ALPK3(NM_020778.4):c.5329+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015243" "0" "50" "15" "85383466" "85383466" "subst" "0" "02330" "ALPK3_000383" "g.85383466A>C" "" "" "" "ALPK3(NM_020778.5):c.956A>C (p.K319T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015244" "0" "50" "15" "85383555" "85383555" "subst" "0" "02330" "ALPK3_000384" "g.85383555T>G" "" "" "" "ALPK3(NM_020778.5):c.1045T>G (p.S349A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015245" "0" "30" "15" "85384169" "85384169" "subst" "2.47449E-5" "02325" "ALPK3_000080" "g.85384169T>G" "" "" "" "ALPK3(NM_020778.5):c.1653+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015246" "0" "10" "15" "85399611" "85399611" "subst" "0" "02330" "ALPK3_000385" "g.85399611C>G" "" "" "" "ALPK3(NM_020778.5):c.1654-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015247" "0" "50" "15" "85399702" "85399702" "subst" "0" "02325" "ALPK3_000386" "g.85399702C>T" "" "" "" "ALPK3(NM_020778.5):c.1733C>T (p.T578I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015248" "0" "50" "15" "85399707" "85399707" "subst" "6.49757E-5" "02330" "ALPK3_000387" "g.85399707G>A" "" "" "" "ALPK3(NM_020778.5):c.1738G>A (p.G580R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015249" "0" "50" "15" "85400707" "85400707" "subst" "4.14188E-6" "02325" "ALPK3_000388" "g.85400707A>C" "" "" "" "ALPK3(NM_020778.5):c.2738A>C (p.H913P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015250" "0" "10" "15" "85400795" "85400795" "subst" "0" "02330" "ALPK3_000389" "g.85400795G>A" "" "" "" "ALPK3(NM_020778.5):c.2826G>A (p.V942=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015251" "0" "30" "15" "85401007" "85401007" "subst" "0.0001551" "02326" "ALPK3_000104" "g.85401007G>A" "" "" "" "ALPK3(NM_020778.4):c.3644G>A (p.R1215H), ALPK3(NM_020778.5):c.3038G>A (p.R1013H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015252" "0" "90" "15" "85401144" "85401144" "subst" "3.40113E-5" "02326" "ALPK3_000106" "g.85401144C>T" "" "" "" "ALPK3(NM_020778.4):c.3781C>T (p.R1261*), ALPK3(NM_020778.5):c.3175C>T (p.R1059*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015253" "0" "50" "15" "85401157" "85401157" "subst" "0" "02325" "ALPK3_000390" "g.85401157G>A" "" "" "" "ALPK3(NM_020778.5):c.3188G>A (p.G1063D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015254" "0" "50" "15" "85401651" "85401651" "subst" "1.85529E-5" "02330" "ALPK3_000391" "g.85401651C>G" "" "" "" "ALPK3(NM_020778.5):c.3682C>G (p.R1228G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015256" "0" "30" "15" "85411508" "85411508" "subst" "0.000467225" "02330" "ALPK3_000315" "g.85411508A>T" "" "" "" "ALPK3(NM_020778.5):c.4939A>T (p.R1647W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001018824" "0" "90" "15" "85401367" "85401368" "dup" "0" "03779" "ALPK3_000393" "g.85401367_85401368dup" "" "" "" "" "" "CLASSIFICATION record" "" "rs1963891093" "0" "" "" "" "" "pathogenic" "" "0001022092" "0" "30" "15" "85383179" "85383179" "subst" "0" "04796" "ALPK3_000005" "g.85383179A>T" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.84839948A>T" "" "likely benign" "" "0001023922" "0" "50" "15" "85406820" "85406820" "subst" "0.000101587" "03779" "ALPK3_000218" "g.85406820A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs367667489" "0" "" "" "" "" "VUS" "" "0001026511" "0" "30" "15" "85360767" "85360767" "subst" "0" "02330" "ALPK3_000394" "g.85360767C>A" "" "" "" "ALPK3(NM_020778.5):c.84C>A (p.P28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026512" "0" "30" "15" "85366567" "85366567" "subst" "0.000304569" "02326" "ALPK3_000222" "g.85366567A>G" "" "" "" "ALPK3(NM_020778.4):c.756A>G (p.S252=), ALPK3(NM_020778.5):c.150A>G (p.S50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026513" "0" "50" "15" "85383448" "85383448" "subst" "0.00025247" "02326" "ALPK3_000070" "g.85383448G>A" "" "" "" "ALPK3(NM_020778.4):c.1544G>A (p.G515E), ALPK3(NM_020778.5):c.938G>A (p.G313E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026514" "0" "30" "15" "85383450" "85383450" "subst" "0.000268756" "02326" "ALPK3_000132" "g.85383450G>A" "" "" "" "ALPK3(NM_020778.4):c.1546G>A (p.A516T), ALPK3(NM_020778.5):c.940G>A (p.A314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026515" "0" "50" "15" "85399657" "85399657" "subst" "2.89937E-5" "02330" "ALPK3_000083" "g.85399657T>C" "" "" "" "ALPK3(NM_020778.4):c.2294T>C (p.M765T), ALPK3(NM_020778.5):c.1688T>C (p.M563T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026516" "0" "50" "15" "85399729" "85399729" "subst" "0" "02330" "ALPK3_000395" "g.85399729C>T" "" "" "" "ALPK3(NM_020778.5):c.1760C>T (p.P587L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026517" "0" "50" "15" "85401382" "85401382" "subst" "0" "02330" "ALPK3_000396" "g.85401382C>G" "" "" "" "ALPK3(NM_020778.5):c.3413C>G (p.S1138C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026518" "0" "50" "15" "85401565" "85401565" "subst" "5.79173E-5" "02326" "ALPK3_000164" "g.85401565G>A" "" "" "" "ALPK3(NM_020778.4):c.4202G>A (p.S1401N), ALPK3(NM_020778.5):c.3596G>A (p.S1199N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026519" "0" "50" "15" "85406064" "85406064" "subst" "4.06085E-6" "02325" "ALPK3_000258" "g.85406064T>C" "" "" "" "ALPK3(NM_020778.5):c.4328T>C (p.I1443T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026520" "0" "50" "15" "85411577" "85411577" "subst" "0" "02330" "ALPK3_000397" "g.85411577A>T" "" "" "" "ALPK3(NM_020778.5):c.5008A>T (p.S1670C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030949" "0" "50" "15" "85401454" "85401454" "subst" "6.69921E-5" "03779" "ALPK3_000011" "g.85401454G>C" "" "" "" "" "" "Unknown" "" "rs752749949" "0" "" "" "" "" "VUS" "" "0001040635" "0" "50" "15" "85360721" "85360721" "subst" "1.96441E-5" "02330" "ALPK3_000398" "g.85360721C>T" "" "" "" "ALPK3(NM_020778.5):c.38C>T (p.A13V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040636" "0" "30" "15" "85383892" "85383892" "subst" "0.00104445" "01804" "ALPK3_000076" "g.85383892G>A" "" "" "" "ALPK3(NM_020778.4):c.1988G>A (p.G663D), ALPK3(NM_020778.5):c.1382G>A (p.G461D, p.(Gly461Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040637" "0" "70" "15" "85400553" "85400553" "subst" "0" "01804" "ALPK3_000399" "g.85400553C>T" "" "" "" "ALPK3(NM_020778.5):c.2584C>T (p.(Gln862*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040638" "0" "30" "15" "85401271" "85401271" "subst" "0.000204244" "01804" "ALPK3_000157" "g.85401271G>A" "" "" "" "ALPK3(NM_020778.5):c.3302G>A (p.G1101D, p.(Gly1101Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040639" "0" "50" "15" "85403122" "85403122" "subst" "2.03189E-5" "01804" "ALPK3_000400" "g.85403122C>T" "" "" "" "ALPK3(NM_020778.5):c.4081C>T (p.(Leu1361Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040640" "0" "50" "15" "85403122" "85403124" "delins" "0" "01804" "ALPK3_000401" "g.85403122_85403124delinsTTT" "" "" "" "ALPK3(NM_020778.5):c.4081_4083delinsTTT (p.(Leu1361Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040641" "0" "30" "15" "85403124" "85403124" "subst" "1.62566E-5" "01804" "ALPK3_000402" "g.85403124C>T" "" "" "" "ALPK3(NM_020778.5):c.4083C>T (p.(Leu1361=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055231" "0" "50" "15" "85360745" "85360745" "subst" "7.76619E-5" "01804" "ALPK3_000055" "g.85360745G>T" "" "" "" "ALPK3(NM_020778.4):c.668G>T (p.G223V), ALPK3(NM_020778.5):c.62G>T (p.G21V, p.(Gly21Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055232" "0" "30" "15" "85400933" "85400933" "subst" "0.000167696" "01804" "ALPK3_000154" "g.85400933C>T" "" "" "" "ALPK3(NM_020778.5):c.2964C>T (p.T988=, p.(Thr988=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066280" "0" "50" "15" "85366592" "85366592" "subst" "0.000162427" "02325" "ALPK3_000117" "g.85366592T>C" "" "" "" "ALPK3(NM_020778.5):c.175T>C (p.S59P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066281" "0" "50" "15" "85382947" "85382947" "subst" "0" "02325" "ALPK3_000403" "g.85382947A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066282" "0" "50" "15" "85400080" "85400097" "del" "0" "02325" "ALPK3_000316" "g.85400080_85400097del" "" "" "" "ALPK3(NM_020778.5):c.2111_2128delTGCAGGGAGAGAAGGGGA (p.M704_G709del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066283" "0" "50" "15" "85400103" "85400103" "subst" "8.12724E-6" "02325" "ALPK3_000206" "g.85400103T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066284" "0" "30" "15" "85400643" "85400643" "subst" "0.000199448" "02325" "ALPK3_000098" "g.85400643G>A" "" "" "" "ALPK3(NM_020778.4):c.3280G>A (p.G1094R), ALPK3(NM_020778.5):c.2674G>A (p.G892R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066285" "0" "50" "15" "85403065" "85403065" "subst" "2.43934E-5" "02325" "ALPK3_000404" "g.85403065G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ALPK3 ## Count = 611 "{{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}}" "0000247302" "00002406" "10" "3968" "0" "3968" "0" "c.3968A>G" "r.(?)" "p.(Gln1323Arg)" "" "0000247303" "00002406" "10" "1805" "0" "1805" "0" "c.1805A>G" "r.(?)" "p.(Gln602Arg)" "" "0000247304" "00002406" "10" "2783" "0" "2783" "0" "c.2783A>G" "r.(?)" "p.(Gln928Arg)" "" "0000247307" "00002406" "10" "4230" "0" "4230" "0" "c.4230A>G" "r.(?)" "p.(Pro1410=)" "" "0000247322" "00002406" "90" "4997" "0" "4997" "0" "c.4997del" "r.(?)" "p.(Asn1666ThrfsTer14)" "" "0000247335" "00002406" "10" "194" "0" "194" "0" "c.194A>G" "r.(?)" "p.(His65Arg)" "" "0000247340" "00002406" "10" "1490" "0" "1490" "0" "c.1490A>G" "r.(?)" "p.(Tyr497Cys)" "" "0000247354" "00002406" "50" "5261" "0" "5261" "0" "c.5261A>C" "r.(?)" "p.(Lys1754Thr)" "" "0000248123" "00002406" "30" "2868" "0" "2868" "0" "c.2868A>G" "r.(?)" "p.(Glu956=)" "" "0000249472" "00002406" "30" "1910" "0" "1910" "0" "c.1910A>G" "r.(?)" "p.(Gln637Arg)" "" "0000249616" "00002406" "90" "4997" "0" "4997" "0" "c.4997del" "r.(?)" "p.(Asn1666ThrfsTer14)" "" "0000253381" "00002406" "10" "3968" "0" "3968" "0" "c.3968A>G" "r.(?)" "p.(Gln1323Arg)" "" "0000253385" "00002406" "10" "1805" "0" "1805" "0" "c.1805A>G" "r.(?)" "p.(Gln602Arg)" "" "0000253386" "00002406" "10" "2783" "0" "2783" "0" "c.2783A>G" "r.(?)" "p.(Gln928Arg)" "" "0000254113" "00002406" "30" "2868" "0" "2868" "0" "c.2868A>G" "r.(?)" "p.(Glu956=)" "" "0000254143" "00002406" "30" "4230" "0" "4230" "0" "c.4230A>G" "r.(?)" "p.(Pro1410=)" "" "0000255560" "00002406" "90" "4997" "0" "4997" "0" "c.4997del" "r.(?)" "p.(Asn1666ThrfsTer14)" "" "0000256462" "00002406" "50" "1275" "0" "1275" "0" "c.1275A>T" "r.(?)" "p.(Arg425=)" "" "0000257613" "00002406" "10" "5729" "0" "5729" "0" "c.*5C>T" "r.(=)" "p.(=)" "" "0000257614" "00002406" "10" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336His)" "" "0000257615" "00002406" "10" "1029" "-19" "1029" "-19" "c.1029-19del" "r.(=)" "p.(=)" "" "0000257616" "00002406" "10" "1230" "0" "1230" "0" "c.1230G>C" "r.(?)" "p.(Gly410=)" "" "0000257617" "00002406" "50" "1259" "0" "1259" "0" "c.1259C>T" "r.(?)" "p.(Pro420Leu)" "" "0000257618" "00002406" "10" "1332" "0" "1332" "0" "c.1332T>C" "r.(?)" "p.(Pro444=)" "" "0000257619" "00002406" "30" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Gly515Glu)" "" "0000257620" "00002406" "10" "1554" "0" "1554" "0" "c.1554G>A" "r.(?)" "p.(Lys518=)" "" "0000257621" "00002406" "10" "1736" "0" "1736" "0" "c.1736G>A" "r.(?)" "p.(Gly579Glu)" "" "0000257622" "00002406" "10" "1935" "0" "1935" "0" "c.1935G>A" "r.(?)" "p.(Gly645=)" "" "0000257623" "00002406" "10" "2028" "0" "2028" "0" "c.2028G>A" "r.(?)" "p.(Pro676=)" "" "0000257624" "00002406" "50" "2195" "0" "2195" "0" "c.2195G>A" "r.(?)" "p.(Arg732Gln)" "" "0000257625" "00002406" "50" "2259" "6" "2259" "6" "c.2259+6T>G" "r.(=)" "p.(=)" "" "0000257626" "00002406" "10" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Thr761Met)" "" "0000257627" "00002406" "50" "2291" "0" "2291" "0" "c.2291C>G" "r.(?)" "p.(Thr764Ser)" "" "0000257628" "00002406" "10" "2343" "0" "2343" "0" "c.2343C>T" "r.(?)" "p.(Ser781=)" "" "0000257629" "00002406" "50" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Val812Met)" "" "0000257630" "00002406" "10" "24" "0" "24" "0" "c.24T>C" "r.(?)" "p.(Tyr8=)" "" "0000257631" "00002406" "50" "2588" "0" "2588" "0" "c.2588T>A" "r.(?)" "p.(Met863Lys)" "" "0000257632" "00002406" "70" "2634" "0" "2637" "0" "c.2634_2637del" "r.(?)" "p.(Gly879ArgfsTer74)" "" "0000257633" "00002406" "50" "2765" "0" "2765" "0" "c.2765T>C" "r.(?)" "p.(Met922Thr)" "" "0000257634" "00002406" "10" "2973" "0" "2973" "0" "c.2973T>C" "r.(?)" "p.(Thr991=)" "" "0000257635" "00002406" "10" "3136" "0" "3136" "0" "c.3136C>T" "r.(?)" "p.(Pro1046Ser)" "" "0000257636" "00002406" "10" "3201" "0" "3201" "0" "c.3201C>T" "r.(?)" "p.(Pro1067=)" "" "0000257637" "00002406" "10" "3203" "0" "3203" "0" "c.3203C>T" "r.(?)" "p.(Thr1068Met)" "" "0000257638" "00002406" "50" "3236" "0" "3236" "0" "c.3236C>G" "r.(?)" "p.(Ala1079Gly)" "" "0000257639" "00002406" "70" "3274" "0" "3274" "0" "c.3274C>T" "r.(?)" "p.(Gln1092Ter)" "" "0000257640" "00002406" "10" "3280" "0" "3280" "0" "c.3280G>A" "r.(?)" "p.(Gly1094Arg)" "" "0000257641" "00002406" "50" "3307" "0" "3307" "0" "c.3307G>A" "r.(?)" "p.(Glu1103Lys)" "" "0000257642" "00002406" "10" "3417" "0" "3417" "0" "c.3417C>G" "r.(?)" "p.(Ala1139=)" "" "0000257643" "00002406" "10" "3453" "0" "3453" "0" "c.3453C>T" "r.(?)" "p.(Pro1151=)" "" "0000257644" "00002406" "70" "3495" "0" "3495" "0" "c.3495C>G" "r.(?)" "p.(Tyr1165Ter)" "" "0000257645" "00002406" "50" "3644" "0" "3644" "0" "c.3644G>A" "r.(?)" "p.(Arg1215His)" "" "0000257646" "00002406" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Pro123Leu)" "" "0000257647" "00002406" "50" "3730" "0" "3730" "0" "c.3730G>A" "r.(?)" "p.(Gly1244Ser)" "" "0000257648" "00002406" "10" "3896" "0" "3896" "0" "c.3896C>T" "r.(?)" "p.(Pro1299Leu)" "" "0000257649" "00002406" "10" "4007" "0" "4007" "0" "c.4007C>T" "r.(?)" "p.(Ala1336Val)" "" "0000257650" "00002406" "10" "4056" "0" "4056" "0" "c.4056T>C" "r.(?)" "p.(Gly1352=)" "" "0000257652" "00002406" "10" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Arg1412Trp)" "" "0000257653" "00002406" "10" "4245" "0" "4245" "0" "c.4245C>T" "r.(?)" "p.(Arg1415=)" "" "0000257654" "00002406" "10" "4308" "0" "4308" "0" "c.4308G>A" "r.(?)" "p.(Ala1436=)" "" "0000257655" "00002406" "10" "4317" "0" "4317" "0" "c.4317C>T" "r.(?)" "p.(Asp1439=)" "" "0000257657" "00002406" "50" "4438" "0" "4438" "0" "c.4438C>T" "r.(?)" "p.(Arg1480Trp)" "" "0000257658" "00002406" "10" "4560" "0" "4560" "0" "c.4560G>A" "r.(?)" "p.(Glu1520=)" "" "0000257659" "00002406" "10" "4571" "11" "4571" "11" "c.4571+11G>A" "r.(=)" "p.(=)" "" "0000257660" "00002406" "50" "4592" "0" "4592" "0" "c.4592C>T" "r.(?)" "p.(Ala1531Val)" "" "0000257661" "00002406" "50" "462" "0" "462" "0" "c.462G>T" "r.(?)" "p.(Thr154=)" "" "0000257662" "00002406" "10" "4669" "0" "4669" "0" "c.4669G>A" "r.(?)" "p.(Ala1557Thr)" "" "0000257663" "00002406" "10" "4670" "0" "4670" "0" "c.4670C>A" "r.(?)" "p.(Ala1557Asp)" "" "0000257664" "00002406" "50" "4678" "0" "4678" "0" "c.4678G>A" "r.(?)" "p.(Asp1560Asn)" "" "0000257665" "00002406" "10" "4735" "9" "4735" "9" "c.4735+9C>T" "r.(=)" "p.(=)" "" "0000257666" "00002406" "50" "4790" "0" "4790" "0" "c.4790C>G" "r.(?)" "p.(Ser1597Cys)" "" "0000257667" "00002406" "10" "4865" "0" "4865" "0" "c.4865T>C" "r.(?)" "p.(Leu1622Pro)" "" "0000257668" "00002406" "10" "5004" "0" "5004" "0" "c.5004C>T" "r.(?)" "p.(Asp1668=)" "" "0000257669" "00002406" "50" "524" "0" "524" "0" "c.524C>G" "r.(?)" "p.(Ala175Gly)" "" "0000257670" "00002406" "50" "5633" "0" "5633" "0" "c.5633C>G" "r.(?)" "p.(Ala1878Gly)" "" "0000257671" "00002406" "10" "5670" "0" "5670" "0" "c.5670G>A" "r.(?)" "p.(Leu1890=)" "" "0000257672" "00002406" "10" "5697" "0" "5697" "0" "c.5697G>A" "r.(?)" "p.(Glu1899=)" "" "0000257673" "00002406" "10" "5706" "0" "5706" "0" "c.5706G>A" "r.(?)" "p.(Lys1902=)" "" "0000257674" "00002406" "50" "5714" "0" "5714" "0" "c.5714G>A" "r.(?)" "p.(Gly1905Asp)" "" "0000257675" "00002406" "10" "585" "0" "585" "0" "c.585G>A" "r.(?)" "p.(Pro195=)" "" "0000257676" "00002406" "70" "661" "0" "661" "0" "c.661del" "r.(?)" "p.(Ala221ArgfsTer90)" "" "0000257677" "00002406" "50" "668" "0" "668" "0" "c.668G>T" "r.(?)" "p.(Gly223Val)" "" "0000257678" "00002406" "50" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Ser235Asn)" "" "0000257679" "00002406" "10" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Ala237Val)" "" "0000257680" "00002406" "10" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Leu243=)" "" "0000257681" "00002406" "10" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255Gln)" "" "0000257682" "00002406" "10" "911" "-18" "911" "-18" "c.911-18C>A" "r.(=)" "p.(=)" "" "0000258743" "00002406" "10" "3201" "0" "3201" "0" "c.3201C>T" "r.(?)" "p.(Pro1067=)" "" "0000259472" "00002406" "30" "2294" "0" "2294" "0" "c.2294T>C" "r.(?)" "p.(Met765Thr)" "" "0000259473" "00002406" "30" "2829" "0" "2829" "0" "c.2829C>T" "r.(?)" "p.(Leu943=)" "" "0000259474" "00002406" "30" "4662" "0" "4662" "0" "c.4662C>T" "r.(?)" "p.(His1554=)" "" "0000259597" "00002406" "50" "3644" "0" "3644" "0" "c.3644G>A" "r.(?)" "p.(Arg1215His)" "" "0000259598" "00002406" "50" "4438" "0" "4438" "0" "c.4438C>T" "r.(?)" "p.(Arg1480Trp)" "" "0000259640" "00002406" "50" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Arg345Gln)" "" "0000259641" "00002406" "50" "1247" "0" "1247" "0" "c.1247G>C" "r.(?)" "p.(Arg416Pro)" "" "0000259642" "00002406" "50" "4091" "0" "4091" "0" "c.4091G>C" "r.(?)" "p.(Gly1364Ala)" "" "0000259643" "00002406" "50" "4235" "0" "4235" "0" "c.4235G>A" "r.(?)" "p.(Arg1412Gln)" "" "0000259746" "00002406" "90" "4736" "-1" "4736" "-1" "c.4736-1G>A" "r.spl?" "p.?" "" "0000262327" "00002406" "10" "5729" "0" "5729" "0" "c.*5C>T" "r.(=)" "p.(=)" "" "0000262328" "00002406" "10" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336His)" "" "0000262329" "00002406" "30" "1029" "-19" "1029" "-19" "c.1029-19del" "r.(=)" "p.(=)" "" "0000262330" "00002406" "10" "1736" "0" "1736" "0" "c.1736G>A" "r.(?)" "p.(Gly579Glu)" "" "0000262331" "00002406" "10" "175" "0" "175" "0" "c.175C>G" "r.(?)" "p.(Arg59Gly)" "" "0000262332" "00002406" "50" "176" "0" "176" "0" "c.176G>T" "r.(?)" "p.(Arg59Leu)" "" "0000262333" "00002406" "10" "1935" "0" "1935" "0" "c.1935G>A" "r.(?)" "p.(Gly645=)" "" "0000262334" "00002406" "30" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Gly663Asp)" "" "0000262335" "00002406" "10" "2128" "0" "2128" "0" "c.2128T>G" "r.(?)" "p.(Cys710Gly)" "" "0000262336" "00002406" "10" "24" "0" "24" "0" "c.24T>C" "r.(?)" "p.(Tyr8=)" "" "0000262337" "00002406" "30" "2973" "0" "2973" "0" "c.2973T>C" "r.(?)" "p.(Thr991=)" "" "0000262338" "00002406" "10" "3136" "0" "3136" "0" "c.3136C>T" "r.(?)" "p.(Pro1046Ser)" "" "0000262339" "00002406" "30" "3201" "0" "3201" "0" "c.3201C>T" "r.(?)" "p.(Pro1067=)" "" "0000262340" "00002406" "30" "3204" "0" "3204" "0" "c.3204G>C" "r.(?)" "p.(Thr1068=)" "" "0000262341" "00002406" "50" "3643" "0" "3643" "0" "c.3643C>T" "r.(?)" "p.(Arg1215Cys)" "" "0000262342" "00002406" "50" "3644" "0" "3644" "0" "c.3644G>A" "r.(?)" "p.(Arg1215His)" "" "0000262343" "00002406" "90" "3781" "0" "3781" "0" "c.3781C>T" "r.(?)" "p.(Arg1261Ter)" "" "0000262344" "00002406" "10" "3896" "0" "3896" "0" "c.3896C>T" "r.(?)" "p.(Pro1299Leu)" "" "0000262345" "00002406" "10" "4056" "0" "4056" "0" "c.4056T>C" "r.(?)" "p.(Gly1352=)" "" "0000262346" "00002406" "30" "4137" "0" "4137" "0" "c.4137C>T" "r.(?)" "p.(Asp1379=)" "" "0000262347" "00002406" "50" "4187" "0" "4187" "0" "c.4187G>A" "r.(?)" "p.(Arg1396Gln)" "" "0000262348" "00002406" "10" "4317" "0" "4317" "0" "c.4317C>T" "r.(?)" "p.(Asp1439=)" "" "0000262349" "00002406" "50" "4438" "0" "4438" "0" "c.4438C>T" "r.(?)" "p.(Arg1480Trp)" "" "0000262350" "00002406" "10" "4560" "0" "4560" "0" "c.4560G>A" "r.(?)" "p.(Glu1520=)" "" "0000262351" "00002406" "30" "4662" "0" "4662" "0" "c.4662C>T" "r.(?)" "p.(His1554=)" "" "0000262352" "00002406" "10" "4670" "0" "4670" "0" "c.4670C>A" "r.(?)" "p.(Ala1557Asp)" "" "0000262353" "00002406" "30" "4699" "15" "4699" "15" "c.4699+15C>T" "r.(=)" "p.(=)" "" "0000262354" "00002406" "10" "4865" "0" "4865" "0" "c.4865T>C" "r.(?)" "p.(Leu1622Pro)" "" "0000262355" "00002406" "50" "5155" "0" "5155" "0" "c.5155G>C" "r.(?)" "p.(Ala1719Pro)" "" "0000262356" "00002406" "50" "5414" "0" "5414" "0" "c.5414T>C" "r.(?)" "p.(Leu1805Pro)" "" "0000262358" "00002406" "30" "5604" "0" "5604" "0" "c.5604C>T" "r.(?)" "p.(Gly1868=)" "" "0000262359" "00002406" "30" "5670" "0" "5670" "0" "c.5670G>A" "r.(?)" "p.(Leu1890=)" "" "0000262360" "00002406" "30" "741" "0" "741" "0" "c.741C>T" "r.(?)" "p.(Pro247=)" "" "0000262361" "00002406" "10" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255Gln)" "" "0000262362" "00002406" "50" "830" "0" "830" "0" "c.830C>A" "r.(?)" "p.(Thr277Asn)" "" "0000262363" "00002406" "10" "911" "-18" "911" "-18" "c.911-18C>A" "r.(=)" "p.(=)" "" "0000324250" "00002406" "50" "826" "0" "828" "0" "c.826_828del" "r.(?)" "p.(Glu276del)" "" "0000555662" "00002406" "50" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Pro52Ser)" "" "0000555663" "00002406" "30" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Pro52Ser)" "" "0000555664" "00002406" "10" "175" "0" "175" "0" "c.175C>G" "r.(?)" "p.(Arg59Gly)" "" "0000555666" "00002406" "10" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Thr81Met)" "" "0000555667" "00002406" "50" "256" "0" "256" "0" "c.256C>A" "r.(?)" "p.(Leu86Ile)" "" "0000555668" "00002406" "10" "436" "0" "440" "0" "c.436_440dup" "r.(?)" "p.(Glu148GlnfsTer8)" "" "0000555669" "00002406" "10" "436" "0" "440" "0" "c.436_440dup" "r.(?)" "p.(Glu148GlnfsTer8)" "" "0000555670" "00002406" "50" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Ala173Thr)" "" "0000555671" "00002406" "10" "564" "0" "564" "0" "c.564G>A" "r.(?)" "p.(Glu188=)" "" "0000555672" "00002406" "50" "623" "0" "623" "0" "c.623C>T" "r.(?)" "p.(Ala208Val)" "" "0000555673" "00002406" "50" "668" "0" "668" "0" "c.668G>T" "r.(?)" "p.(Gly223Val)" "" "0000555674" "00002406" "50" "688" "0" "688" "0" "c.688C>G" "r.(?)" "p.(Pro230Ala)" "" "0000555675" "00002406" "30" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Leu243=)" "" "0000555676" "00002406" "50" "744" "0" "744" "0" "c.744G>C" "r.(?)" "p.(Glu248Asp)" "" "0000555678" "00002406" "50" "781" "0" "781" "0" "c.781T>C" "r.(?)" "p.(Ser261Pro)" "" "0000555679" "00002406" "30" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Thr284Met)" "" "0000555680" "00002406" "50" "851" "0" "851" "0" "c.851C>T" "r.(?)" "p.(Thr284Met)" "" "0000555681" "00002406" "50" "857" "0" "857" "0" "c.857A>G" "r.(?)" "p.(Lys286Arg)" "" "0000555682" "00002406" "50" "903" "0" "903" "0" "c.903C>A" "r.(?)" "p.(Ile301=)" "" "0000555683" "00002406" "10" "910" "6" "910" "6" "c.910+6G>T" "r.(=)" "p.(=)" "" "0000555684" "00002406" "10" "1002" "0" "1002" "0" "c.1002C>A" "r.(?)" "p.(Gly334=)" "" "0000555685" "00002406" "30" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336His)" "" "0000555686" "00002406" "50" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(His380Tyr)" "" "0000555687" "00002406" "30" "1230" "0" "1230" "0" "c.1230G>C" "r.(?)" "p.(Gly410=)" "" "0000555688" "00002406" "10" "1241" "0" "1241" "0" "c.1241C>G" "r.(?)" "p.(Thr414Ser)" "" "0000555689" "00002406" "10" "1241" "0" "1241" "0" "c.1241C>G" "r.(?)" "p.(Thr414Ser)" "" "0000555690" "00002406" "50" "1243" "0" "1244" "0" "c.1243_1244del" "r.(?)" "p.(Leu415AlafsTer30)" "" "0000555691" "00002406" "10" "1308" "0" "1308" "0" "c.1308C>A" "r.(?)" "p.(Gly436=)" "" "0000555692" "00002406" "30" "1308" "0" "1308" "0" "c.1308C>A" "r.(?)" "p.(Gly436=)" "" "0000555693" "00002406" "50" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Pro440Ser)" "" "0000555694" "00002406" "50" "1450" "0" "1450" "0" "c.1450C>A" "r.(?)" "p.(Pro484Thr)" "" "0000555695" "00002406" "50" "1464" "0" "1499" "0" "c.1464_1499del" "r.(?)" "p.(Glu488_Cys499del)" "" "0000555696" "00002406" "50" "1487" "0" "1487" "0" "c.1487C>T" "r.(?)" "p.(Thr496Ile)" "" "0000555697" "00002406" "10" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Ala516Thr)" "" "0000555698" "00002406" "30" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Ala516Thr)" "" "0000555699" "00002406" "30" "1554" "0" "1554" "0" "c.1554G>A" "r.(?)" "p.(Lys518=)" "" "0000555700" "00002406" "70" "1565" "0" "1566" "0" "c.1565_1566del" "r.(?)" "p.(Asp522GlyfsTer33)" "" "0000555701" "00002406" "50" "1660" "0" "1660" "0" "c.1660C>T" "r.(?)" "p.(Pro554Ser)" "" "0000555704" "00002406" "50" "1826" "0" "1831" "0" "c.1826_1831dup" "r.(?)" "p.(Pro609_Gly610dup)" "" "0000555705" "00002406" "30" "2100" "0" "2100" "0" "c.2100C>A" "r.(?)" "p.(Pro700=)" "" "0000555706" "00002406" "10" "2128" "0" "2128" "0" "c.2128T>G" "r.(?)" "p.(Cys710Gly)" "" "0000555707" "00002406" "30" "2181" "0" "2181" "0" "c.2181G>A" "r.(?)" "p.(Pro727=)" "" "0000555708" "00002406" "50" "2294" "0" "2294" "0" "c.2294T>G" "r.(?)" "p.(Met765Arg)" "" "0000555710" "00002406" "10" "2316" "0" "2316" "0" "c.2316T>C" "r.(?)" "p.(Asp772=)" "" "0000555711" "00002406" "50" "2719" "0" "2719" "0" "c.2719C>G" "r.(?)" "p.(Gln907Glu)" "" "0000555712" "00002406" "30" "2736" "0" "2736" "0" "c.2736G>A" "r.(?)" "p.(Thr912=)" "" "0000555713" "00002406" "30" "2787" "0" "2787" "0" "c.2787G>C" "r.(?)" "p.(Glu929Asp)" "" "0000555714" "00002406" "10" "2811" "0" "2811" "0" "c.2811A>G" "r.(?)" "p.(Pro937=)" "" "0000555715" "00002406" "10" "2829" "0" "2829" "0" "c.2829C>T" "r.(?)" "p.(Leu943=)" "" "0000555716" "00002406" "30" "2829" "0" "2829" "0" "c.2829C>T" "r.(?)" "p.(Leu943=)" "" "0000555717" "00002406" "30" "2844" "0" "2844" "0" "c.2844T>A" "r.(?)" "p.(Gly948=)" "" "0000555718" "00002406" "30" "2857" "0" "2857" "0" "c.2857C>T" "r.(?)" "p.(Leu953=)" "" "0000555719" "00002406" "10" "2868" "0" "2868" "0" "c.2868A>G" "r.(?)" "p.(Glu956=)" "" "0000555720" "00002406" "10" "3037" "0" "3037" "0" "c.3037G>A" "r.(?)" "p.(Glu1013Lys)" "" "0000555721" "00002406" "10" "3037" "0" "3037" "0" "c.3037G>A" "r.(?)" "p.(Glu1013Lys)" "" "0000555722" "00002406" "10" "3066" "0" "3066" "0" "c.3066G>A" "r.(?)" "p.(Gly1022=)" "" "0000555723" "00002406" "50" "3150" "0" "3150" "0" "c.3150G>A" "r.(?)" "p.(Pro1050=)" "" "0000555724" "00002406" "10" "3203" "0" "3203" "0" "c.3203C>T" "r.(?)" "p.(Thr1068Met)" "" "0000555725" "00002406" "30" "3259" "0" "3259" "0" "c.3259A>G" "r.(?)" "p.(Ser1087Gly)" "" "0000555726" "00002406" "50" "3308" "0" "3308" "0" "c.3308A>G" "r.(?)" "p.(Glu1103Gly)" "" "0000555727" "00002406" "50" "3308" "0" "3308" "0" "c.3308A>G" "r.(?)" "p.(Glu1103Gly)" "" "0000555728" "00002406" "70" "3418" "0" "3418" "0" "c.3418C>T" "r.(?)" "p.(Gln1140Ter)" "" "0000555729" "00002406" "30" "3531" "0" "3531" "0" "c.3531A>G" "r.(?)" "p.(Thr1177=)" "" "0000555730" "00002406" "10" "3570" "0" "3570" "0" "c.3570C>T" "r.(?)" "p.(Thr1190=)" "" "0000555731" "00002406" "50" "3623" "0" "3623" "0" "c.3623T>G" "r.(?)" "p.(Leu1208Arg)" "" "0000555732" "00002406" "50" "3632" "0" "3632" "0" "c.3632G>A" "r.(?)" "p.(Arg1211Gln)" "" "0000555733" "00002406" "50" "3643" "0" "3643" "0" "c.3643C>T" "r.(?)" "p.(Arg1215Cys)" "" "0000555734" "00002406" "50" "3908" "0" "3908" "0" "c.3908G>A" "r.(?)" "p.(Gly1303Asp)" "" "0000555735" "00002406" "30" "3908" "0" "3908" "0" "c.3908G>A" "r.(?)" "p.(Gly1303Asp)" "" "0000555736" "00002406" "30" "3921" "0" "3921" "0" "c.3921C>T" "r.(?)" "p.(Ala1307=)" "" "0000555737" "00002406" "10" "3959" "0" "3959" "0" "c.3959C>T" "r.(?)" "p.(Ala1320Val)" "" "0000555738" "00002406" "30" "4003" "0" "4003" "0" "c.4003A>G" "r.(?)" "p.(Ile1335Val)" "" "0000555739" "00002406" "30" "4007" "0" "4007" "0" "c.4007C>T" "r.(?)" "p.(Ala1336Val)" "" "0000555740" "00002406" "50" "4060" "0" "4060" "0" "c.4060C>G" "r.(?)" "p.(Pro1354Ala)" "" "0000555741" "00002406" "50" "4091" "0" "4091" "0" "c.4091G>C" "r.(?)" "p.(Gly1364Ala)" "" "0000555742" "00002406" "50" "4094" "0" "4094" "0" "c.4094C>T" "r.(?)" "p.(Ala1365Val)" "" "0000555743" "00002406" "50" "4094" "0" "4094" "0" "c.4094C>T" "r.(?)" "p.(Ala1365Val)" "" "0000555744" "00002406" "50" "4161" "0" "4166" "0" "c.4161_4166dup" "r.(?)" "p.(Arg1388_Glu1389dup)" "" "0000555745" "00002406" "30" "4202" "0" "4202" "0" "c.4202G>A" "r.(?)" "p.(Ser1401Asn)" "" "0000555747" "00002406" "50" "4246" "0" "4249" "0" "c.4246_4249dup" "r.(?)" "p.(Pro1417LeufsTer42)" "" "0000555748" "00002406" "50" "4268" "0" "4268" "0" "c.4268C>T" "r.(?)" "p.(Ala1423Val)" "" "0000555749" "00002406" "30" "4288" "0" "4288" "0" "c.4288C>T" "r.(?)" "p.(Arg1430Trp)" "" "0000555750" "00002406" "30" "4326" "0" "4326" "0" "c.4326C>T" "r.(?)" "p.(Pro1442=)" "" "0000555751" "00002406" "50" "4366" "0" "4366" "0" "c.4366G>A" "r.(?)" "p.(Asp1456Asn)" "" "0000555752" "00002406" "10" "4440" "0" "4440" "0" "c.4440G>C" "r.(?)" "p.(Arg1480=)" "" "0000555753" "00002406" "30" "4473" "0" "4473" "0" "c.4473C>T" "r.(?)" "p.(Ser1491=)" "" "0000555754" "00002406" "10" "4572" "-18" "4572" "-18" "c.4572-18A>G" "r.(=)" "p.(=)" "" "0000555755" "00002406" "10" "4572" "-14" "4572" "-14" "c.4572-14T>C" "r.(=)" "p.(=)" "" "0000555756" "00002406" "30" "4629" "0" "4629" "0" "c.4629C>T" "r.(?)" "p.(Cys1543=)" "" "0000555757" "00002406" "10" "4662" "0" "4662" "0" "c.4662C>T" "r.(?)" "p.(His1554=)" "" "0000555758" "00002406" "10" "4670" "0" "4670" "0" "c.4670C>A" "r.(?)" "p.(Ala1557Asp)" "" "0000555759" "00002406" "30" "4698" "0" "4698" "0" "c.4698G>C" "r.(?)" "p.(Glu1566Asp)" "" "0000555760" "00002406" "90" "4736" "-1" "4736" "-1" "c.4736-1G>A" "r.spl?" "p.?" "" "0000555761" "00002406" "90" "4736" "-1" "4736" "-1" "c.4736-1G>A" "r.spl?" "p.?" "" "0000555762" "00002406" "70" "4760" "0" "4760" "0" "c.4760del" "r.(?)" "p.(Pro1587LeufsTer23)" "" "0000555763" "00002406" "50" "4775" "0" "4775" "0" "c.4775A>C" "r.(?)" "p.(Lys1592Thr)" "" "0000555764" "00002406" "30" "4819" "0" "4819" "0" "c.4819C>A" "r.(?)" "p.(Arg1607=)" "" "0000555765" "00002406" "50" "4925" "0" "4925" "0" "c.4925G>A" "r.(?)" "p.(Arg1642His)" "" "0000555766" "00002406" "10" "5080" "0" "5080" "0" "c.5080G>A" "r.(?)" "p.(Ala1694Thr)" "" "0000555767" "00002406" "50" "5119" "0" "5119" "0" "c.5119T>C" "r.(?)" "p.(Tyr1707His)" "" "0000555768" "00002406" "10" "5154" "0" "5154" "0" "c.5154T>C" "r.(?)" "p.(Tyr1718=)" "" "0000555769" "00002406" "30" "5254" "0" "5254" "0" "c.5254A>G" "r.(?)" "p.(Met1752Val)" "" "0000555770" "00002406" "50" "5261" "0" "5261" "0" "c.5261A>C" "r.(?)" "p.(Lys1754Thr)" "" "0000555771" "00002406" "90" "5294" "0" "5294" "0" "c.5294G>A" "r.(?)" "p.(Trp1765Ter)" "" "0000555772" "00002406" "10" "5330" "-19" "5330" "-19" "c.5330-19C>G" "r.(=)" "p.(=)" "" "0000555773" "00002406" "50" "5374" "0" "5374" "0" "c.5374C>T" "r.(?)" "p.(Arg1792Ter)" "" "0000555774" "00002406" "50" "5489" "0" "5489" "0" "c.5489C>T" "r.(?)" "p.(Pro1830Leu)" "" "0000555775" "00002406" "10" "5505" "0" "5505" "0" "c.5505C>G" "r.(?)" "p.(Pro1835=)" "" "0000555776" "00002406" "10" "5505" "0" "5505" "0" "c.5505C>T" "r.(?)" "p.(Pro1835=)" "" "0000555777" "00002406" "30" "5505" "0" "5505" "0" "c.5505C>T" "r.(?)" "p.(Pro1835=)" "" "0000555778" "00002406" "50" "5526" "0" "5526" "0" "c.5526dup" "r.(?)" "p.(Lys1843Ter)" "" "0000555779" "00002406" "50" "5526" "0" "5526" "0" "c.5526dup" "r.(?)" "p.(Lys1843Ter)" "" "0000555780" "00002406" "50" "5526" "0" "5526" "0" "c.5526dup" "r.(?)" "p.(Lys1843Ter)" "" "0000555781" "00002406" "50" "5615" "0" "5615" "0" "c.5615G>A" "r.(?)" "p.(Ser1872Asn)" "" "0000555782" "00002406" "10" "5618" "0" "5618" "0" "c.5618C>T" "r.(?)" "p.(Ala1873Val)" "" "0000555783" "00002406" "10" "5618" "0" "5618" "0" "c.5618C>T" "r.(?)" "p.(Ala1873Val)" "" "0000555784" "00002406" "50" "5721" "0" "5721" "0" "c.5721del" "r.(?)" "p.(Ter1908SerextTer49)" "" "0000615563" "00002406" "50" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Leu35Phe)" "" "0000615564" "00002406" "30" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Pro52Ser)" "" "0000615565" "00002406" "50" "253" "0" "253" "0" "c.253G>C" "r.(?)" "p.(Val85Leu)" "" "0000615566" "00002406" "30" "436" "0" "440" "0" "c.436_440dup" "r.(?)" "p.(Glu148GlnfsTer8)" "" "0000615567" "00002406" "50" "736" "0" "736" "0" "c.736C>G" "r.(?)" "p.(Arg246Gly)" "" "0000615568" "00002406" "30" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Cys)" "" "0000615569" "00002406" "30" "1248" "0" "1248" "0" "c.1248C>T" "r.(?)" "p.(Arg416=)" "" "0000615570" "00002406" "10" "1335" "0" "1335" "0" "c.1335G>A" "r.(?)" "p.(Glu445=)" "" "0000615571" "00002406" "50" "1603" "0" "1603" "0" "c.1603G>A" "r.(?)" "p.(Glu535Lys)" "" "0000615572" "00002406" "30" "1660" "0" "1660" "0" "c.1660C>T" "r.(?)" "p.(Pro554Ser)" "" "0000615573" "00002406" "30" "2506" "0" "2506" "0" "c.2506C>T" "r.(?)" "p.(Arg836Cys)" "" "0000615575" "00002406" "30" "2783" "0" "2783" "0" "c.2783A>G" "r.(?)" "p.(Gln928Arg)" "" "0000615576" "00002406" "30" "3037" "0" "3037" "0" "c.3037G>A" "r.(?)" "p.(Glu1013Lys)" "" "0000615577" "00002406" "50" "3067" "0" "3067" "0" "c.3067C>A" "r.(?)" "p.(Pro1023Thr)" "" "0000615578" "00002406" "30" "3067" "0" "3067" "0" "c.3067C>A" "r.(?)" "p.(Pro1023Thr)" "" "0000615579" "00002406" "30" "3308" "0" "3308" "0" "c.3308A>G" "r.(?)" "p.(Glu1103Gly)" "" "0000615580" "00002406" "50" "3535" "0" "3535" "0" "c.3535G>A" "r.(?)" "p.(Gly1179Arg)" "" "0000615581" "00002406" "30" "3592" "0" "3592" "0" "c.3592A>G" "r.(?)" "p.(Thr1198Ala)" "" "0000615582" "00002406" "30" "3644" "0" "3644" "0" "c.3644G>A" "r.(?)" "p.(Arg1215His)" "" "0000615583" "00002406" "30" "3722" "0" "3722" "0" "c.3722G>A" "r.(?)" "p.(Arg1241His)" "" "0000615584" "00002406" "30" "3908" "0" "3908" "0" "c.3908G>A" "r.(?)" "p.(Gly1303Asp)" "" "0000615585" "00002406" "50" "4161" "0" "4166" "0" "c.4161_4166dup" "r.(?)" "p.(Arg1388_Glu1389dup)" "" "0000615586" "00002406" "30" "4186" "0" "4186" "0" "c.4186C>T" "r.(?)" "p.(Arg1396Trp)" "" "0000615587" "00002406" "30" "4288" "0" "4288" "0" "c.4288C>T" "r.(?)" "p.(Arg1430Trp)" "" "0000615588" "00002406" "30" "4349" "0" "4349" "0" "c.4349A>G" "r.(?)" "p.(Asp1450Gly)" "" "0000615589" "00002406" "10" "4392" "0" "4392" "0" "c.4392C>G" "r.(?)" "p.(Ala1464=)" "" "0000615590" "00002406" "30" "4438" "0" "4438" "0" "c.4438C>T" "r.(?)" "p.(Arg1480Trp)" "" "0000615591" "00002406" "50" "4447" "0" "4447" "0" "c.4447C>T" "r.(?)" "p.(Arg1483Trp)" "" "0000615592" "00002406" "30" "4662" "0" "4662" "0" "c.4662C>T" "r.(?)" "p.(His1554=)" "" "0000615593" "00002406" "50" "4698" "0" "4698" "0" "c.4698G>C" "r.(?)" "p.(Glu1566Asp)" "" "0000615594" "00002406" "10" "4736" "-15" "4736" "-15" "c.4736-15C>G" "r.(=)" "p.(=)" "" "0000615595" "00002406" "50" "4760" "0" "4760" "0" "c.4760del" "r.(?)" "p.(Pro1587LeufsTer23)" "" "0000615596" "00002406" "50" "4801" "0" "4801" "0" "c.4801G>C" "r.(?)" "p.(Gly1601Arg)" "" "0000615597" "00002406" "50" "5035" "0" "5035" "0" "c.5035A>G" "r.(?)" "p.(Met1679Val)" "" "0000615598" "00002406" "30" "5054" "0" "5054" "0" "c.5054A>G" "r.(?)" "p.(Lys1685Arg)" "" "0000615599" "00002406" "50" "5546" "0" "5546" "0" "c.5546G>A" "r.(?)" "p.(Arg1849Lys)" "" "0000623312" "00002406" "70" "541" "0" "541" "0" "c.541del" "r.(?)" "p.(Ala181ProfsTer130)" "" "0000623313" "00002406" "30" "1879" "0" "1879" "0" "c.1879G>A" "r.(?)" "p.(Ala627Thr)" "" "0000623314" "00002406" "50" "2146" "0" "2146" "0" "c.2146G>C" "r.(?)" "p.(Gly716Arg)" "" "0000623315" "00002406" "50" "2244" "0" "2244" "0" "c.2244C>G" "r.(?)" "p.(His748Gln)" "" "0000623316" "00002406" "30" "5228" "0" "5228" "0" "c.5228C>T" "r.(?)" "p.(Pro1743Leu)" "" "0000623317" "00002406" "50" "5636" "0" "5636" "0" "c.5636C>T" "r.(?)" "p.(Thr1879Ile)" "" "0000649169" "00002406" "30" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336His)" "" "0000649170" "00002406" "10" "1805" "0" "1805" "0" "c.1805A>G" "r.(?)" "p.(Gln602Arg)" "" "0000649172" "00002406" "10" "4670" "0" "4670" "0" "c.4670C>A" "r.(?)" "p.(Ala1557Asp)" "" "0000657677" "00002406" "10" "756" "0" "756" "0" "c.756A>G" "r.(?)" "p.(Ser252=)" "" "0000657678" "00002406" "50" "1086" "0" "1086" "0" "c.1086del" "r.(?)" "p.(Ile362MetfsTer13)" "" "0000657679" "00002406" "50" "1769" "0" "1769" "0" "c.1769A>T" "r.(?)" "p.(Lys590Met)" "" "0000657680" "00002406" "10" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Gly663Asp)" "" "0000657681" "00002406" "50" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Pro727Leu)" "" "0000657682" "00002406" "10" "2778" "0" "2778" "0" "c.2778T>G" "r.(?)" "p.(Ser926=)" "" "0000657683" "00002406" "30" "4308" "0" "4308" "0" "c.4308G>A" "r.(?)" "p.(Ala1436=)" "" "0000657684" "00002406" "50" "4474" "0" "4474" "0" "c.4474G>A" "r.(?)" "p.(Gly1492Ser)" "" "0000657685" "00002406" "50" "4727" "0" "4727" "0" "c.4727A>G" "r.(?)" "p.(Glu1576Gly)" "" "0000669301" "00002406" "10" "4670" "0" "4670" "0" "c.4670C>A" "r.(?)" "p.(Ala1557Asp)" "" "0000680310" "00002406" "10" "225" "0" "225" "0" "c.225G>T" "r.(?)" "p.(Pro75=)" "" "0000680311" "00002406" "30" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(Asp295=)" "" "0000680312" "00002406" "50" "1295" "0" "1295" "0" "c.1295del" "r.(?)" "p.(Ala432ValfsTer36)" "" "0000680313" "00002406" "30" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Arg541Cys)" "" "0000680314" "00002406" "50" "2294" "0" "2294" "0" "c.2294T>G" "r.(?)" "p.(Met765Arg)" "" "0000680315" "00002406" "50" "2366" "0" "2366" "0" "c.2366C>G" "r.(?)" "p.(Pro789Arg)" "" "0000680316" "00002406" "50" "4646" "0" "4646" "0" "c.4646C>T" "r.(?)" "p.(Thr1549Ile)" "" "0000680317" "00002406" "50" "4993" "0" "4993" "0" "c.4993A>G" "r.(?)" "p.(Arg1665Gly)" "" "0000680318" "00002406" "10" "5079" "0" "5079" "0" "c.5079C>A" "r.(?)" "p.(Ala1693=)" "" "0000680319" "00002406" "50" "5414" "0" "5414" "0" "c.5414T>C" "r.(?)" "p.(Leu1805Pro)" "" "0000691881" "00002406" "30" "789" "-7" "789" "-7" "c.789-7C>T" "r.(=)" "p.(=)" "" "0000691882" "00002406" "50" "1237" "0" "1237" "0" "c.1237G>C" "r.(?)" "p.(Asp413His)" "" "0000691883" "00002406" "50" "2213" "0" "2213" "0" "c.2213G>A" "r.(?)" "p.(Arg738Gln)" "" "0000691884" "00002406" "50" "3038" "0" "3038" "0" "c.3038A>G" "r.(?)" "p.(Glu1013Gly)" "" "0000691885" "00002406" "50" "3134" "0" "3134" "0" "c.3134G>A" "r.(?)" "p.(Arg1045Gln)" "" "0000691886" "00002406" "50" "3635" "0" "3635" "0" "c.3635C>T" "r.(?)" "p.(Thr1212Ile)" "" "0000691887" "00002406" "50" "3655" "0" "3655" "0" "c.3655C>T" "r.(?)" "p.(Arg1219Cys)" "" "0000691888" "00002406" "30" "3947" "0" "3947" "0" "c.3947G>A" "r.(?)" "p.(Arg1316Gln)" "" "0000691889" "00002406" "50" "4137" "0" "4137" "0" "c.4137C>G" "r.(?)" "p.(Asp1379Glu)" "" "0000691890" "00002406" "30" "4137" "0" "4137" "0" "c.4137C>G" "r.(?)" "p.(Asp1379Glu)" "" "0000691891" "00002406" "50" "4448" "0" "4448" "0" "c.4448G>A" "r.(?)" "p.(Arg1483Gln)" "" "0000691892" "00002406" "50" "5128" "0" "5128" "0" "c.5128T>C" "r.(?)" "p.(Tyr1710His)" "" "0000725328" "00002406" "10" "-7" "0" "-7" "0" "c.-7G>A" "r.(?)" "p.(=)" "" "0000725329" "00002406" "10" "363" "0" "363" "0" "c.363C>A" "r.(?)" "p.(Ala121=)" "" "0000725330" "00002406" "50" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Arg345Gln)" "" "0000725331" "00002406" "50" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Thr441Ile)" "" "0000725332" "00002406" "50" "1499" "0" "1499" "0" "c.1499A>G" "r.(?)" "p.(Asp500Gly)" "" "0000725333" "00002406" "50" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Gly515Glu)" "" "0000725334" "00002406" "50" "2752" "0" "2752" "0" "c.2752G>A" "r.(?)" "p.(Ala918Thr)" "" "0000725335" "00002406" "50" "2971" "0" "2971" "0" "c.2971A>T" "r.(?)" "p.(Thr991Ser)" "" "0000725336" "00002406" "50" "3050" "0" "3050" "0" "c.3050G>A" "r.(?)" "p.(Gly1017Glu)" "" "0000725337" "00002406" "50" "3248" "0" "3248" "0" "c.3248C>T" "r.(?)" "p.(Ala1083Val)" "" "0000725338" "00002406" "50" "3265" "0" "3265" "0" "c.3265C>T" "r.(?)" "p.(Pro1089Ser)" "" "0000725339" "00002406" "30" "3280" "0" "3280" "0" "c.3280G>A" "r.(?)" "p.(Gly1094Arg)" "" "0000725340" "00002406" "50" "3632" "0" "3632" "0" "c.3632G>A" "r.(?)" "p.(Arg1211Gln)" "" "0000725341" "00002406" "70" "4246" "0" "4249" "0" "c.4246_4249dup" "r.(?)" "p.(Pro1417LeufsTer42)" "" "0000725342" "00002406" "10" "4254" "0" "4254" "0" "c.4254G>T" "r.(?)" "p.(Thr1418=)" "" "0000725343" "00002406" "50" "4934" "0" "4934" "0" "c.4934T>C" "r.(?)" "p.(Ile1645Thr)" "" "0000806953" "00002406" "30" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Thr81Met)" "" "0000806954" "00002406" "50" "317" "0" "317" "0" "c.317G>T" "r.(?)" "p.(Arg106Leu)" "" "0000806955" "00002406" "30" "524" "0" "524" "0" "c.524C>G" "r.(?)" "p.(Ala175Gly)" "" "0000806956" "00002406" "50" "874" "0" "874" "0" "c.874G>C" "r.(?)" "p.(Glu292Gln)" "" "0000806957" "00002406" "10" "1013" "0" "1013" "0" "c.1013C>T" "r.(?)" "p.(Thr338Ile)" "" "0000806958" "00002406" "30" "1332" "0" "1332" "0" "c.1332T>C" "r.(?)" "p.(Pro444=)" "" "0000806959" "00002406" "30" "1488" "0" "1488" "0" "c.1488A>G" "r.(?)" "p.(Thr496=)" "" "0000806960" "00002406" "30" "1737" "0" "1737" "0" "c.1737G>T" "r.(?)" "p.(Gly579=)" "" "0000806961" "00002406" "50" "1825" "0" "1825" "0" "c.1825C>T" "r.(?)" "p.(Pro609Ser)" "" "0000806962" "00002406" "50" "1999" "0" "1999" "0" "c.1999C>A" "r.(?)" "p.(Gln667Lys)" "" "0000806963" "00002406" "50" "2042" "0" "2042" "0" "c.2042A>G" "r.(?)" "p.(Asn681Ser)" "" "0000806964" "00002406" "50" "2183" "0" "2183" "0" "c.2183C>T" "r.(?)" "p.(Thr728Met)" "" "0000806965" "00002406" "50" "3133" "0" "3133" "0" "c.3133C>T" "r.(?)" "p.(Arg1045Trp)" "" "0000806966" "00002406" "50" "3154" "0" "3154" "0" "c.3154A>G" "r.(?)" "p.(Met1052Val)" "" "0000806967" "00002406" "50" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Cys1057Tyr)" "" "0000806968" "00002406" "50" "3416" "0" "3416" "0" "c.3416C>T" "r.(?)" "p.(Ala1139Val)" "" "0000806969" "00002406" "30" "3781" "0" "3781" "0" "c.3781C>G" "r.(?)" "p.(Arg1261Gly)" "" "0000806970" "00002406" "10" "4176" "0" "4176" "0" "c.4176G>A" "r.(?)" "p.(Thr1392=)" "" "0000806971" "00002406" "50" "4498" "0" "4498" "0" "c.4498T>C" "r.(?)" "p.(Phe1500Leu)" "" "0000806972" "00002406" "50" "5013" "0" "5013" "0" "c.5013C>G" "r.(?)" "p.(Ile1671Met)" "" "0000806973" "00002406" "50" "5054" "0" "5054" "0" "c.5054A>G" "r.(?)" "p.(Lys1685Arg)" "" "0000806974" "00002406" "30" "5064" "0" "5064" "0" "c.5064A>G" "r.(?)" "p.(Ala1688=)" "" "0000806975" "00002406" "50" "5377" "0" "5377" "0" "c.5377G>C" "r.(?)" "p.(Gly1793Arg)" "" "0000806976" "00002406" "50" "5378" "1" "5378" "1" "c.5378+1G>T" "r.spl?" "p.?" "" "0000854210" "00002406" "50" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Trp)" "" "0000854211" "00002406" "30" "903" "0" "903" "0" "c.903C>A" "r.(?)" "p.(Ile301=)" "" "0000854212" "00002406" "50" "1259" "0" "1259" "0" "c.1259C>T" "r.(?)" "p.(Pro420Leu)" "" "0000854213" "00002406" "10" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Gly663Asp)" "" "0000854214" "00002406" "10" "2259" "11" "2259" "11" "c.2259+11G>T" "r.(=)" "p.(=)" "" "0000854215" "00002406" "30" "2294" "0" "2294" "0" "c.2294T>C" "r.(?)" "p.(Met765Thr)" "" "0000854216" "00002406" "50" "3050" "0" "3050" "0" "c.3050G>A" "r.(?)" "p.(Gly1017Glu)" "" "0000854217" "00002406" "30" "3142" "0" "3142" "0" "c.3142G>A" "r.(?)" "p.(Gly1048Arg)" "" "0000854218" "00002406" "10" "3921" "0" "3921" "0" "c.3921C>T" "r.(?)" "p.(Ala1307=)" "" "0000854219" "00002406" "10" "4473" "0" "4473" "0" "c.4473C>T" "r.(?)" "p.(Ser1491=)" "" "0000854220" "00002406" "30" "4473" "0" "4473" "0" "c.4473C>T" "r.(?)" "p.(Ser1491=)" "" "0000854221" "00002406" "50" "4589" "0" "4589" "0" "c.4589C>T" "r.(?)" "p.(Pro1530Leu)" "" "0000854222" "00002406" "30" "4861" "0" "4861" "0" "c.4861G>A" "r.(?)" "p.(Gly1621Ser)" "" "0000854223" "00002406" "10" "5618" "0" "5618" "0" "c.5618C>T" "r.(?)" "p.(Ala1873Val)" "" "0000863984" "00002406" "30" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255Gln)" "" "0000863985" "00002406" "10" "1490" "0" "1490" "0" "c.1490A>G" "r.(?)" "p.(Tyr497Cys)" "" "0000863986" "00002406" "50" "2195" "0" "2195" "0" "c.2195G>A" "r.(?)" "p.(Arg732Gln)" "" "0000863987" "00002406" "10" "2223" "0" "2223" "0" "c.2223G>A" "r.(?)" "p.(Thr741=)" "" "0000863988" "00002406" "30" "3353" "0" "3353" "0" "c.3353T>C" "r.(?)" "p.(Leu1118Pro)" "" "0000863989" "00002406" "10" "3417" "0" "3417" "0" "c.3417C>G" "r.(?)" "p.(Ala1139=)" "" "0000863990" "00002406" "50" "3571" "0" "3571" "0" "c.3571G>A" "r.(?)" "p.(Gly1191Arg)" "" "0000863991" "00002406" "30" "4571" "9" "4571" "9" "c.4571+9A>G" "r.(=)" "p.(=)" "" "0000863992" "00002406" "10" "5105" "8" "5105" "8" "c.5105+8C>T" "r.(=)" "p.(=)" "" "0000878851" "00002406" "70" "2043" "0" "2044" "0" "c.2043_2044del" "r.(?)" "p.(Asn681Lysfs*16)" "6" "0000879767" "00002406" "50" "5618" "0" "5618" "0" "c.5618C>T" "r.(?)" "p.(Ala1873Val)" "" "0000892308" "00002406" "10" "9" "0" "9" "0" "c.9G>A" "r.(?)" "p.(Val3=)" "" "0000892310" "00002406" "50" "192" "0" "192" "0" "c.192C>A" "r.(?)" "p.(Cys64*)" "" "0000892312" "00002406" "30" "300" "0" "300" "0" "c.300C>G" "r.(?)" "p.(Pro100=)" "" "0000892314" "00002406" "50" "544" "0" "544" "0" "c.544G>C" "r.(?)" "p.(Gly182Arg)" "" "0000892315" "00002406" "50" "564" "0" "564" "0" "c.564G>T" "r.(?)" "p.(Glu188Asp)" "" "0000892316" "00002406" "50" "688" "0" "688" "0" "c.688C>G" "r.(?)" "p.(Pro230Ala)" "" "0000892317" "00002406" "10" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255Gln)" "" "0000892318" "00002406" "30" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Arg336His)" "" "0000892320" "00002406" "50" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Gly480Arg)" "" "0000892321" "00002406" "50" "1718" "0" "1718" "0" "c.1718G>C" "r.(?)" "p.(Arg573Thr)" "" "0000892322" "00002406" "10" "1805" "0" "1805" "0" "c.1805A>G" "r.(?)" "p.(Gln602Arg)" "" "0000892323" "00002406" "10" "1929" "0" "1929" "0" "c.1929G>A" "r.(?)" "p.(Ala643=)" "" "0000892324" "00002406" "10" "1935" "0" "1935" "0" "c.1935G>A" "r.(?)" "p.(Gly645=)" "" "0000892326" "00002406" "10" "2181" "0" "2181" "0" "c.2181G>A" "r.(?)" "p.(Pro727=)" "" "0000892327" "00002406" "50" "2287" "0" "2287" "0" "c.2287C>T" "r.(?)" "p.(Pro763Ser)" "" "0000892328" "00002406" "30" "2294" "0" "2294" "0" "c.2294T>C" "r.(?)" "p.(Met765Thr)" "" "0000892329" "00002406" "50" "2591" "0" "2591" "0" "c.2591T>A" "r.(?)" "p.(Met864Lys)" "" "0000892330" "00002406" "30" "2778" "0" "2778" "0" "c.2778T>G" "r.(?)" "p.(Ser926=)" "" "0000892331" "00002406" "30" "2841" "0" "2841" "0" "c.2841G>A" "r.(?)" "p.(Ala947=)" "" "0000892332" "00002406" "30" "2973" "0" "2973" "0" "c.2973T>C" "r.(?)" "p.(Thr991=)" "" "0000892333" "00002406" "50" "3133" "0" "3133" "0" "c.3133C>T" "r.(?)" "p.(Arg1045Trp)" "" "0000892334" "00002406" "10" "3136" "0" "3136" "0" "c.3136C>T" "r.(?)" "p.(Pro1046Ser)" "" "0000892335" "00002406" "30" "3201" "0" "3201" "0" "c.3201C>T" "r.(?)" "p.(Pro1067=)" "" "0000892336" "00002406" "30" "3201" "0" "3201" "0" "c.3201C>T" "r.(?)" "p.(Pro1067=)" "" "0000892337" "00002406" "30" "3259" "0" "3259" "0" "c.3259A>G" "r.(?)" "p.(Ser1087Gly)" "" "0000892338" "00002406" "30" "3259" "0" "3259" "0" "c.3259A>G" "r.(?)" "p.(Ser1087Gly)" "" "0000892339" "00002406" "10" "3414" "0" "3414" "0" "c.3414C>T" "r.(?)" "p.(Cys1138=)" "" "0000892340" "00002406" "10" "3417" "0" "3417" "0" "c.3417C>G" "r.(?)" "p.(Ala1139=)" "" "0000892341" "00002406" "50" "3440" "0" "3440" "0" "c.3440G>A" "r.(?)" "p.(Arg1147Gln)" "" "0000892342" "00002406" "50" "3475" "0" "3475" "0" "c.3475A>G" "r.(?)" "p.(Ile1159Val)" "" "0000892343" "00002406" "30" "3570" "0" "3570" "0" "c.3570C>T" "r.(?)" "p.(Thr1190=)" "" "0000892344" "00002406" "10" "3699" "0" "3699" "0" "c.3699G>C" "r.(?)" "p.(Leu1233=)" "" "0000892345" "00002406" "10" "3768" "0" "3768" "0" "c.3768C>T" "r.(?)" "p.(Ala1256=)" "" "0000892346" "00002406" "10" "3896" "0" "3896" "0" "c.3896C>T" "r.(?)" "p.(Pro1299Leu)" "" "0000892347" "00002406" "30" "4007" "0" "4007" "0" "c.4007C>T" "r.(?)" "p.(Ala1336Val)" "" "0000892348" "00002406" "10" "4056" "0" "4056" "0" "c.4056T>C" "r.(?)" "p.(Gly1352=)" "" "0000892349" "00002406" "50" "4094" "0" "4094" "0" "c.4094C>T" "r.(?)" "p.(Ala1365Val)" "" "0000892350" "00002406" "50" "4122" "0" "4122" "0" "c.4122C>G" "r.(?)" "p.(Val1374=)" "" "0000892351" "00002406" "10" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Arg1412Trp)" "" "0000892352" "00002406" "30" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Arg1412Trp)" "" "0000892353" "00002406" "30" "4235" "0" "4235" "0" "c.4235G>A" "r.(?)" "p.(Arg1412Gln)" "" "0000892354" "00002406" "50" "4288" "0" "4288" "0" "c.4288C>T" "r.(?)" "p.(Arg1430Trp)" "" "0000892355" "00002406" "30" "4362" "0" "4362" "0" "c.4362C>T" "r.(?)" "p.(Ala1454=)" "" "0000892356" "00002406" "10" "4424" "-43" "4424" "-43" "c.4424-43G>A" "r.(=)" "p.(=)" "" "0000892357" "00002406" "10" "4670" "0" "4670" "0" "c.4670C>A" "r.(?)" "p.(Ala1557Asp)" "" "0000892358" "00002406" "90" "4997" "0" "4997" "0" "c.4997del" "r.(?)" "p.(Asn1666ThrfsTer14)" "" "0000892359" "00002406" "10" "5017" "-289" "5017" "-289" "c.5017-289A>C" "r.(=)" "p.(=)" "" "0000892360" "00002406" "30" "5105" "14" "5105" "14" "c.5105+14G>A" "r.(=)" "p.(=)" "" "0000892361" "00002406" "10" "5106" "-109" "5106" "-109" "c.5106-109A>C" "r.(=)" "p.(=)" "" "0000892362" "00002406" "50" "5150" "0" "5150" "0" "c.5150C>T" "r.(?)" "p.(Pro1717Leu)" "" "0000892363" "00002406" "90" "5162" "0" "5162" "0" "c.5162T>A" "r.(?)" "p.(Leu1721Gln)" "" "0000892364" "00002406" "50" "5181" "0" "5181" "0" "c.5181G>T" "r.(?)" "p.(Lys1727Asn)" "" "0000892365" "00002406" "90" "5294" "0" "5294" "0" "c.5294G>A" "r.(?)" "p.(Trp1765Ter)" "" "0000892366" "00002406" "50" "5453" "0" "5453" "0" "c.5453A>G" "r.(?)" "p.(Tyr1818Cys)" "" "0000892367" "00002406" "50" "5545" "0" "5545" "0" "c.5545A>T" "r.(?)" "p.(Arg1849Trp)" "" "0000892368" "00002406" "30" "5618" "0" "5618" "0" "c.5618C>T" "r.(?)" "p.(Ala1873Val)" "" "0000914380" "00002406" "10" "741" "0" "741" "0" "c.741C>T" "r.(?)" "p.(Pro247=)" "" "0000914381" "00002406" "10" "911" "-18" "911" "-18" "c.911-18C>A" "r.(=)" "p.(=)" "" "0000914382" "00002406" "10" "1241" "0" "1241" "0" "c.1241C>G" "r.(?)" "p.(Thr414Ser)" "" "0000914383" "00002406" "10" "1736" "0" "1736" "0" "c.1736G>A" "r.(?)" "p.(Gly579Glu)" "" "0000914384" "00002406" "10" "1935" "0" "1935" "0" "c.1935G>A" "r.(?)" "p.(Gly645=)" "" "0000914385" "00002406" "10" "2128" "0" "2128" "0" "c.2128T>G" "r.(?)" "p.(Cys710Gly)" "" "0000914386" "00002406" "50" "2717" "0" "2734" "0" "c.2717_2734del" "r.(?)" "p.(Met906_Gly911del)" "" "0000914387" "00002406" "10" "3896" "0" "3896" "0" "c.3896C>T" "r.(?)" "p.(Pro1299Leu)" "" "0000914388" "00002406" "10" "4056" "0" "4056" "0" "c.4056T>C" "r.(?)" "p.(Gly1352=)" "" "0000914389" "00002406" "10" "4424" "-43" "4424" "-43" "c.4424-43G>A" "r.(=)" "p.(=)" "" "0000914390" "00002406" "30" "4629" "0" "4629" "0" "c.4629C>T" "r.(?)" "p.(Cys1543=)" "" "0000914391" "00002406" "10" "4865" "0" "4865" "0" "c.4865T>C" "r.(?)" "p.(Leu1622Pro)" "" "0000914392" "00002406" "50" "5425" "0" "5425" "0" "c.5425T>C" "r.(?)" "p.(Phe1809Leu)" "" "0000914393" "00002406" "10" "5496" "0" "5496" "0" "c.5496G>A" "r.(?)" "p.(Ala1832=)" "" "0000914394" "00002406" "30" "5670" "0" "5670" "0" "c.5670G>A" "r.(?)" "p.(Leu1890=)" "" "0000926046" "00002406" "10" "175" "0" "175" "0" "c.175C>G" "r.(?)" "p.(Arg59Gly)" "" "0000926047" "00002406" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Pro123Leu)" "" "0000926048" "00002406" "50" "789" "-3" "789" "-3" "c.789-3T>G" "r.spl?" "p.?" "" "0000926049" "00002406" "30" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Arg345Gln)" "" "0000926050" "00002406" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Ala392Val)" "" "0000926051" "00002406" "50" "1397" "0" "1397" "0" "c.1397G>T" "r.(?)" "p.(Gly466Val)" "" "0000926052" "00002406" "50" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Gly480Arg)" "" "0000926053" "00002406" "10" "2787" "0" "2787" "0" "c.2787G>C" "r.(?)" "p.(Glu929Asp)" "" "0000926054" "00002406" "30" "3571" "0" "3571" "0" "c.3571G>A" "r.(?)" "p.(Gly1191Arg)" "" "0000926055" "00002406" "30" "3692" "0" "3692" "0" "c.3692C>A" "r.(?)" "p.(Thr1231Asn)" "" "0000926056" "00002406" "30" "4137" "0" "4137" "0" "c.4137C>T" "r.(?)" "p.(Asp1379=)" "" "0000926057" "00002406" "50" "4202" "0" "4202" "0" "c.4202G>A" "r.(?)" "p.(Ser1401Asn)" "" "0000926058" "00002406" "30" "4288" "0" "4288" "0" "c.4288C>T" "r.(?)" "p.(Arg1430Trp)" "" "0000926059" "00002406" "50" "4313" "0" "4313" "0" "c.4313G>A" "r.(?)" "p.(Gly1438Glu)" "" "0000926060" "00002406" "10" "4677" "0" "4677" "0" "c.4677C>T" "r.(?)" "p.(Thr1559=)" "" "0000926061" "00002406" "50" "4762" "0" "4762" "0" "c.4762A>G" "r.(?)" "p.(Met1588Val)" "" "0000926062" "00002406" "50" "4778" "0" "4778" "0" "c.4778G>C" "r.(?)" "p.(Gly1593Ala)" "" "0000926063" "00002406" "30" "5232" "0" "5232" "0" "c.5232A>G" "r.(?)" "p.(Thr1744=)" "" "0000926064" "00002406" "50" "5469" "0" "5469" "0" "c.5469dup" "r.(?)" "p.(Leu1824Alafs*20)" "" "0000930440" "00002406" "10" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Ala237Val)" "" "0000930441" "00002406" "10" "789" "-118" "789" "-118" "c.789-118C>G" "r.(=)" "p.(=)" "" "0000930442" "00002406" "50" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288Trp)" "" "0000930443" "00002406" "90" "1297" "0" "1297" "0" "c.1297C>T" "r.(?)" "p.(Gln433*)" "" "0000930444" "00002406" "50" "1733" "0" "1733" "0" "c.1733G>A" "r.(?)" "p.(Arg578Gln)" "" "0000930445" "00002406" "50" "2063" "0" "2063" "0" "c.2063C>T" "r.(?)" "p.(Pro688Leu)" "" "0000930446" "00002406" "50" "2882" "0" "2882" "0" "c.2882C>T" "r.(?)" "p.(Thr961Ile)" "" "0000930447" "00002406" "50" "3643" "0" "3643" "0" "c.3643C>T" "r.(?)" "p.(Arg1215Cys)" "" "0000930448" "00002406" "90" "3781" "0" "3781" "0" "c.3781C>T" "r.(?)" "p.(Arg1261Ter)" "" "0000930449" "00002406" "50" "4498" "0" "4498" "0" "c.4498T>C" "r.(?)" "p.(Phe1500Leu)" "" "0000930450" "00002406" "50" "4558" "0" "4558" "0" "c.4558G>A" "r.(?)" "p.(Glu1520Lys)" "" "0000930451" "00002406" "10" "4571" "174" "4571" "174" "c.4571+174A>G" "r.(=)" "p.(=)" "" "0000930452" "00002406" "30" "4667" "0" "4667" "0" "c.4667C>G" "r.(?)" "p.(Ser1556Trp)" "" "0000930453" "00002406" "90" "4760" "0" "4760" "0" "c.4760del" "r.(?)" "p.(Pro1587LeufsTer23)" "" "0000930454" "00002406" "10" "4865" "0" "4865" "0" "c.4865T>C" "r.(?)" "p.(Leu1622Pro)" "" "0000930455" "00002406" "90" "5029" "0" "5029" "0" "c.5029C>T" "r.(?)" "p.(Gln1677*)" "" "0000930456" "00002406" "30" "5105" "9" "5105" "9" "c.5105+9G>A" "r.(=)" "p.(=)" "" "0000930457" "00002406" "10" "5105" "9" "5105" "9" "c.5105+9G>T" "r.(=)" "p.(=)" "" "0000930458" "00002406" "50" "5666" "0" "5666" "0" "c.5666A>C" "r.(?)" "p.(Gln1889Pro)" "" "0000930459" "00002406" "30" "5697" "0" "5697" "0" "c.5697G>A" "r.(?)" "p.(Glu1899=)" "" "0000950449" "00002406" "10" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(Asp295=)" "" "0000950450" "00002406" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Val310Met)" "" "0000950451" "00002406" "50" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Cys)" "" "0000950452" "00002406" "50" "1657" "0" "1657" "0" "c.1657G>A" "r.(?)" "p.(Glu553Lys)" "" "0000950453" "00002406" "50" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Pro727Leu)" "" "0000950454" "00002406" "50" "2192" "0" "2192" "0" "c.2192C>T" "r.(?)" "p.(Ala731Val)" "" "0000950455" "00002406" "50" "3760" "0" "3760" "0" "c.3760C>T" "r.(?)" "p.(Arg1254Cys)" "" "0000950456" "00002406" "50" "4094" "0" "4094" "0" "c.4094C>T" "r.(?)" "p.(Ala1365Val)" "" "0000950457" "00002406" "50" "4438" "0" "4438" "0" "c.4438C>T" "r.(?)" "p.(Arg1480Trp)" "" "0000950458" "00002406" "90" "4736" "-1" "4736" "-1" "c.4736-1G>A" "r.spl?" "p.?" "" "0000950459" "00002406" "50" "5117" "0" "5117" "0" "c.5117T>C" "r.(?)" "p.(Leu1706Pro)" "" "0000950460" "00002406" "30" "5706" "0" "5706" "0" "c.5706G>A" "r.(?)" "p.(Lys1902=)" "" "0000959826" "00002406" "70" "713" "0" "713" "0" "c.713del" "r.(?)" "p.(Pro238LeufsTer28)" "" "0000967992" "00002406" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Val310Met)" "" "0000967993" "00002406" "50" "931" "0" "931" "0" "c.931A>T" "r.(?)" "p.(Thr311Ser)" "" "0000967994" "00002406" "50" "1826" "0" "1831" "0" "c.1826_1831dup" "r.(?)" "p.(Pro609_Gly610dup)" "" "0000967995" "00002406" "50" "1860" "0" "1860" "0" "c.1860G>A" "r.(?)" "p.(Met620Ile)" "" "0000967996" "00002406" "50" "3050" "0" "3050" "0" "c.3050G>A" "r.(?)" "p.(Gly1017Glu)" "" "0000967997" "00002406" "50" "3265" "0" "3265" "0" "c.3265C>T" "r.(?)" "p.(Pro1089Ser)" "" "0000967998" "00002406" "50" "4093" "0" "4093" "0" "c.4093G>C" "r.(?)" "p.(Ala1365Pro)" "" "0000967999" "00002406" "30" "4175" "0" "4175" "0" "c.4175C>T" "r.(?)" "p.(Thr1392Met)" "" "0000968000" "00002406" "50" "4307" "0" "4307" "0" "c.4307C>T" "r.(?)" "p.(Ala1436Val)" "" "0000981451" "00002406" "30" "48" "0" "52" "0" "c.48_52dup" "r.(?)" "p.(Gln18Argfs*138)" "" "0000981452" "00002406" "30" "192" "0" "192" "0" "c.192C>A" "r.(?)" "p.(Cys64*)" "" "0000981453" "00002406" "30" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Gly101Glu)" "" "0000981454" "00002406" "90" "642" "0" "667" "0" "c.642_667del" "r.(?)" "p.(Ala215Argfs*3)" "" "0000981455" "00002406" "10" "657" "0" "657" "0" "c.657G>T" "r.(?)" "p.(=)" "" "0000981456" "00002406" "50" "659" "0" "659" "0" "c.659G>C" "r.(?)" "p.(Gly220Ala)" "" "0000981457" "00002406" "30" "873" "0" "873" "0" "c.873C>T" "r.(?)" "p.(=)" "" "0000981458" "00002406" "50" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(His337Tyr)" "" "0000981459" "00002406" "50" "1175" "0" "1175" "0" "c.1175C>A" "r.(?)" "p.(Ala392Glu)" "" "0000981460" "00002406" "30" "1230" "0" "1230" "0" "c.1230G>C" "r.(?)" "p.(Gly410=)" "" "0000981461" "00002406" "50" "3149" "0" "3149" "0" "c.3149C>T" "r.(?)" "p.(Pro1050Leu)" "" "0000981462" "00002406" "50" "3269" "0" "3269" "0" "c.3269C>T" "r.(?)" "p.(Thr1090Ile)" "" "0000981463" "00002406" "10" "3353" "0" "3353" "0" "c.3353T>C" "r.(?)" "p.(Leu1118Pro)" "" "0000981464" "00002406" "50" "3638" "0" "3638" "0" "c.3638C>T" "r.(?)" "p.(Ser1213Leu)" "" "0000981465" "00002406" "30" "3743" "0" "3743" "0" "c.3743G>A" "r.(?)" "p.(Arg1248His)" "" "0000981466" "00002406" "50" "4667" "0" "4667" "0" "c.4667C>G" "r.(?)" "p.(Ser1556Trp)" "" "0000981467" "00002406" "90" "4819" "0" "4819" "0" "c.4819C>T" "r.(?)" "p.(Arg1607*)" "" "0000981468" "00002406" "50" "5119" "0" "5119" "0" "c.5119T>C" "r.(?)" "p.(Tyr1707His)" "" "0000985944" "00002406" "90" "3936" "0" "3937" "0" "c.3936_3937del" "r.(?)" "p.(Asp1312GlufsTer14)" "" "0000985945" "00002406" "90" "3936" "0" "3937" "0" "c.3936_3937del" "r.(?)" "p.(Asp1312GlufsTer14)" "" "0000989255" "00002406" "50" "3533" "0" "3533" "0" "c.3533G>C" "r.(?)" "p.(Ser1178Thr)" "" "0000989408" "00002406" "90" "690" "0" "697" "0" "c.690_697del" "r.(?)" "p.(Gln231GlyfsTer10)" "" "0000989662" "00002406" "50" "1847" "0" "1847" "0" "c.1847C>G" "r.(?)" "p.(Ser616Cys)" "" "0000989674" "00002406" "90" "4505" "0" "4506" "0" "c.4505_4506insACATTCTTAGTGACTCAGTCTT" "r.(?)" "p.(Pro1503HisfsTer3)" "" "0000989938" "00002406" "30" "5027" "0" "5027" "0" "c.5027C>G" "r.(?)" "p.(Ala1676Gly)" "" "0001001714" "00002406" "50" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Pro52Ser)" "" "0001001715" "00002406" "30" "175" "0" "175" "0" "c.175C>G" "r.(?)" "p.(Arg59Gly)" "" "0001001716" "00002406" "50" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Ser238Asn)" "" "0001001717" "00002406" "30" "789" "-5" "789" "-5" "c.789-5C>T" "r.spl?" "p.?" "" "0001001718" "00002406" "50" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Gly515Glu)" "" "0001001719" "00002406" "50" "1813" "0" "1813" "0" "c.1813C>T" "r.(?)" "p.(Pro605Ser)" "" "0001001720" "00002406" "50" "2294" "0" "2294" "0" "c.2294T>G" "r.(?)" "p.(Met765Arg)" "" "0001001721" "00002406" "50" "2462" "0" "2462" "0" "c.2462A>T" "r.(?)" "p.(Asp821Val)" "" "0001001722" "00002406" "30" "2829" "0" "2829" "0" "c.2829C>T" "r.(?)" "p.(Leu943=)" "" "0001001723" "00002406" "50" "2891" "0" "2891" "0" "c.2891G>T" "r.(?)" "p.(Gly964Val)" "" "0001001724" "00002406" "50" "4138" "0" "4138" "0" "c.4138G>A" "r.(?)" "p.(Gly1380Arg)" "" "0001001725" "00002406" "90" "4191" "0" "4191" "0" "c.4191del" "r.(?)" "p.(Arg1399Glyfs*75)" "" "0001001726" "00002406" "50" "4253" "0" "4253" "0" "c.4253C>T" "r.(?)" "p.(Thr1418Met)" "" "0001001727" "00002406" "10" "4269" "0" "4269" "0" "c.4269G>A" "r.(?)" "p.(=)" "" "0001001728" "00002406" "50" "4288" "0" "4288" "0" "c.4288C>T" "r.(?)" "p.(Arg1430Trp)" "" "0001001729" "00002406" "50" "4589" "0" "4589" "0" "c.4589C>T" "r.(?)" "p.(Pro1530Leu)" "" "0001001730" "00002406" "50" "5012" "0" "5012" "0" "c.5012T>C" "r.(?)" "p.(Ile1671Thr)" "" "0001001731" "00002406" "30" "5080" "0" "5080" "0" "c.5080G>A" "r.(?)" "p.(Ala1694Thr)" "" "0001001732" "00002406" "50" "5329" "5" "5329" "5" "c.5329+5G>T" "r.spl?" "p.?" "" "0001015243" "00002406" "50" "1562" "0" "1562" "0" "c.1562A>C" "r.(?)" "p.(Lys521Thr)" "" "0001015244" "00002406" "50" "1651" "0" "1651" "0" "c.1651T>G" "r.(?)" "p.(Ser551Ala)" "" "0001015245" "00002406" "30" "2259" "6" "2259" "6" "c.2259+6T>G" "r.(=)" "p.(=)" "" "0001015246" "00002406" "10" "2260" "-12" "2260" "-12" "c.2260-12C>G" "r.(=)" "p.(=)" "" "0001015247" "00002406" "50" "2339" "0" "2339" "0" "c.2339C>T" "r.(?)" "p.(Thr780Ile)" "" "0001015248" "00002406" "50" "2344" "0" "2344" "0" "c.2344G>A" "r.(?)" "p.(Gly782Arg)" "" "0001015249" "00002406" "50" "3344" "0" "3344" "0" "c.3344A>C" "r.(?)" "p.(His1115Pro)" "" "0001015250" "00002406" "10" "3432" "0" "3432" "0" "c.3432G>A" "r.(?)" "p.(=)" "" "0001015251" "00002406" "30" "3644" "0" "3644" "0" "c.3644G>A" "r.(?)" "p.(Arg1215His)" "" "0001015252" "00002406" "90" "3781" "0" "3781" "0" "c.3781C>T" "r.(?)" "p.(Arg1261Ter)" "" "0001015253" "00002406" "50" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Gly1265Asp)" "" "0001015254" "00002406" "50" "4288" "0" "4288" "0" "c.4288C>G" "r.(?)" "p.(Arg1430Gly)" "" "0001015256" "00002406" "30" "5545" "0" "5545" "0" "c.5545A>T" "r.(?)" "p.(Arg1849Trp)" "" "0001018824" "00002406" "90" "3398" "0" "3399" "0" "c.3398_3399dup" "r.(?)" "p.(Ala1134Ter)" "" "0001022092" "00002406" "30" "1275" "0" "1275" "0" "c.1275A>T" "r.1275A>T" "p.Arg425=" "5" "0001023922" "00002406" "50" "4448" "0" "4448" "0" "c.4448A>G" "r.(?)" "p.(Lys1483Arg)" "" "0001026511" "00002406" "30" "690" "0" "690" "0" "c.690C>A" "r.(?)" "p.(=)" "" "0001026512" "00002406" "30" "756" "0" "756" "0" "c.756A>G" "r.(?)" "p.(Ser252=)" "" "0001026513" "00002406" "50" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Gly515Glu)" "" "0001026514" "00002406" "30" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Ala516Thr)" "" "0001026515" "00002406" "50" "2294" "0" "2294" "0" "c.2294T>C" "r.(?)" "p.(Met765Thr)" "" "0001026516" "00002406" "50" "2366" "0" "2366" "0" "c.2366C>T" "r.(?)" "p.(Pro789Leu)" "" "0001026517" "00002406" "50" "4019" "0" "4019" "0" "c.4019C>G" "r.(?)" "p.(Ser1340Cys)" "" "0001026518" "00002406" "50" "4202" "0" "4202" "0" "c.4202G>A" "r.(?)" "p.(Ser1401Asn)" "" "0001026519" "00002406" "50" "4934" "0" "4934" "0" "c.4934T>C" "r.(?)" "p.(Ile1645Thr)" "" "0001026520" "00002406" "50" "5614" "0" "5614" "0" "c.5614A>T" "r.(?)" "p.(Ser1872Cys)" "" "0001030949" "00002406" "50" "3485" "0" "3485" "0" "c.3485G>C" "r.(?)" "p.(Gly1162Ala)" "" "0001040635" "00002406" "50" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ala215Val)" "" "0001040636" "00002406" "30" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Gly663Asp)" "" "0001040637" "00002406" "70" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Gln1064*)" "" "0001040638" "00002406" "30" "3908" "0" "3908" "0" "c.3908G>A" "r.(?)" "p.(Gly1303Asp)" "" "0001040639" "00002406" "50" "4687" "0" "4687" "0" "c.4687C>T" "r.(?)" "p.(Leu1563Phe)" "" "0001040640" "00002406" "50" "4687" "0" "4689" "0" "c.4687_4689delinsTTT" "r.(?)" "p.(Leu1563Phe)" "" "0001040641" "00002406" "30" "4689" "0" "4689" "0" "c.4689C>T" "r.(?)" "p.(=)" "" "0001055231" "00002406" "50" "668" "0" "668" "0" "c.668G>T" "r.(?)" "p.(Gly223Val)" "" "0001055232" "00002406" "30" "3570" "0" "3570" "0" "c.3570C>T" "r.(?)" "p.(Thr1190=)" "" "0001066280" "00002406" "50" "781" "0" "781" "0" "c.781T>C" "r.(?)" "p.(Ser261Pro)" "" "0001066281" "00002406" "50" "1043" "0" "1043" "0" "c.1043A>T" "r.(?)" "p.(Asp348Val)" "" "0001066282" "00002406" "50" "2717" "0" "2734" "0" "c.2717_2734del" "r.(?)" "p.(Met906_Gly911del)" "" "0001066283" "00002406" "50" "2740" "0" "2740" "0" "c.2740T>G" "r.(?)" "p.(Ser914Ala)" "" "0001066284" "00002406" "30" "3280" "0" "3280" "0" "c.3280G>A" "r.(?)" "p.(Gly1094Arg)" "" "0001066285" "00002406" "50" "4630" "0" "4630" "0" "c.4630G>A" "r.(?)" "p.(Gly1544Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000292480" "0000649169" "0000292481" "0000649170" "0000292483" "0000649172" "0000305613" "0000669301" "0000418937" "0000878851" "0000419659" "0000879767" "0000454761" "0000989662" "0000454773" "0000989674" "0000462565" "0001022092"