### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AKAP9) # 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}}" "AKAP9" "A kinase (PRKA) anchor protein (yotiao) 9" "7" "q21-q22" "unknown" "LRG_331" "UD_132118429473" "" "http://www.LOVD.nl/AKAP9" "" "1" "379" "10142" "604001" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/AKAP9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-06-22 23:21:25" "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}}" "00002306" "AKAP9" "transcript variant 2" "001" "NM_005751.4" "" "NP_005742.4" "" "" "" "-225" "12238" "11724" "91570189" "91739987" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03063" "LQT11" "QT syndrome, long, type 11 (LQT-11)" "AD" "611820" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04170" "BRGDA" "Brugada syndrome (BRGDA)" "" "" "" "" "" "00006" "2015-01-17 14:28:24" "00006" "2021-12-10 21:51:32" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AKAP9" "03063" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00028977" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "United States" ">38y" "0" "" "" "white" "" "00028982" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "Spain" ">44y" "0" "" "" "European" "" "00028983" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "F" "" "United States" ">43y" "0" "" "" "white" "" "00039390" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00064767" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y02m" "0" "" "" "Europe" "SIDS024" "00064769" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "F" "?" "Switzerland" "00y04m" "0" "" "" "Europe" "SIDS037" "00065136" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "F" "?" "Switzerland" "00y03m" "0" "" "" "Europe" "SIDS075" "00103748" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "M" "" "Switzerland" "32y" "0" "" "" "Africa" "SUDS050" "00128357" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "13" "00128408" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "117" "00128417" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "144" "00181205" "" "" "" "24" "" "02529" "{PMID:Monasky 2019:31292628}" "" "M" "no" "Italy" "49y" "0" "" "" "white" "PatII" "00294508" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294509" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294510" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294511" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294512" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294513" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295324" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296534" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00329095" "" "" "" "1" "" "01164" "" "submission for publication Schoen et al.; 2021: sudden unexplained death" "?" "" "Germany" "00y09m" "0" "" "" "" "155448" "00416441" "" "" "" "1" "" "04120" "" "" "M" "no" "France" "" "" "yes" "beta blockers" "white" "" "00438699" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0734" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00028977" "04170" "00028982" "04170" "00028983" "04170" "00039390" "00139" "00039390" "04282" "00064767" "02087" "00064769" "02087" "00065136" "02087" "00103748" "05166" "00128357" "00198" "00128408" "00198" "00128417" "00198" "00181205" "04170" "00294508" "00198" "00294509" "00198" "00294510" "00198" "00294511" "00198" "00294512" "00198" "00294513" "00198" "00295324" "00198" "00296534" "00198" "00329095" "02087" "00416441" "03063" "00438699" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02087, 03063, 04170, 04282, 05166, 06906 ## Count = 16 "{{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}}" "0000025005" "00118" "00028977" "00066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034042" "04282" "00039390" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050926" "02087" "00064767" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000050928" "02087" "00064769" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000051241" "02087" "00065136" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000081684" "05166" "00103748" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000100575" "00198" "00128357" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100624" "00198" "00128408" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100625" "00198" "00128408" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100635" "00198" "00128417" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000143375" "04170" "00181205" "02529" "Unknown" "49y" "" "" "49y" "" "" "" "" "" "" "Brugada syndrome" "type 2 Brugada pattern" "" "0000223940" "00198" "00296534" "01164" "Unknown" "" "Syncope (HP:0001279)" "" "" "" "" "" "" "" "" "" "" "" "0000247292" "02087" "00329095" "01164" "Unknown" "" "Sudden cardiac death" "" "" "" "" "" "" "" "" "" "" "" "0000308161" "03063" "00416441" "04120" "Unknown" "35y" "Recurrent syncopal attack and cardiac arrest" "" "" "" "" "" "" "" "" "LQTS-11" "" "" "0000322145" "05166" "00103748" "01602" "Unknown" "" "SUDEP" "" "" "" "" "" "" "" "" "" "" "" "0000328602" "06906" "00438699" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029018" "00028977" "1" "00066" "00066" "2015-01-12 15:36:13" "" "" "SEQ" "DNA" "" "" "0000029023" "00028982" "1" "00066" "00066" "2015-01-12 16:16:31" "" "" "SEQ" "DNA" "" "" "0000029024" "00028983" "1" "00066" "00066" "2015-01-12 16:22:26" "" "" "SEQ-NG-S" "DNA" "" "" "0000039631" "00039390" "1" "01158" "01158" "2015-06-15 13:16:06" "" "" "SEQ-NG" "DNA" "" "" "0000064908" "00064767" "1" "01602" "01602" "2016-05-11 15:23:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000064910" "00064769" "1" "01602" "01602" "2016-05-11 15:34:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000065287" "00065136" "1" "01602" "01602" "2016-05-19 13:48:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000104203" "00103748" "1" "01602" "01602" "2017-04-18 11:58:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000128826" "00128357" "1" "02244" "02244" "2017-09-15 13:45:18" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129246" "00128408" "1" "02244" "02244" "2017-09-15 15:58:50" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129255" "00128417" "1" "02244" "02244" "2017-09-15 16:14:32" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000182164" "00181205" "1" "02529" "02529" "2018-10-04 16:23:37" "" "" "SEQ-NG-I" "DNA" "Saliva" "24 genes panel" "0000295676" "00294508" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295677" "00294509" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295678" "00294510" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295679" "00294511" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295680" "00294512" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295681" "00294513" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296492" "00295324" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297644" "00296534" "1" "01164" "01164" "2020-04-08 09:44:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000330312" "00329095" "1" "01164" "01164" "2021-02-03 16:46:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000417720" "00416441" "1" "04120" "04120" "2022-08-30 22:26:30" "" "" "SEQ-NG" "RNA" "Blood sample" "" "0000440181" "00438699" "1" "00006" "00006" "2023-10-21 19:20:17" "00006" "2023-10-21 22:17:41" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000182164" "SCN10A" "0000330312" "AKAP9" "0000417720" "AKAP9" ## 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 = 469 "{{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}}" "0000052355" "0" "10" "7" "91674405" "91674405" "subst" "0.000719612" "00066" "AKAP9_000053" "g.91674405T>C" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "no" "rs150016098" "0" "" "" "g.92045091T>C" "" "benign" "" "0000052363" "0" "50" "7" "91646406" "91646406" "subst" "0.00924742" "00066" "AKAP9_000054" "g.91646406G>A" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "" "rs146797353" "0" "" "" "g.92017092G>A" "" "VUS" "" "0000052364" "0" "50" "7" "91712896" "91712896" "subst" "0" "00066" "AKAP9_000052" "g.91712896A>G" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "De novo" "" "" "0" "" "" "g.92083582A>G" "" "VUS" "" "0000052365" "0" "50" "7" "91713963" "91713963" "subst" "0.000179175" "00066" "AKAP9_000051" "g.91713963A>G" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "" "rs143283097" "0" "" "" "g.92084649A>G" "" "VUS" "" "0000067233" "0" "30" "7" "91694570" "91694570" "del" "0" "01158" "AKAP9_000056" "g.91694570del" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "likely benign" "" "0000096563" "0" "50" "7" "91726391" "91726391" "subst" "0.00138994" "01602" "AKAP9_000055" "g.91726391C>A" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs140470576" "0" "" "" "g.92097077C>A" "" "VUS" "" "0000096565" "0" "50" "7" "91643610" "91643610" "subst" "0.00060575" "01602" "AKAP9_000057" "g.91643610G>A" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs139965373" "0" "" "" "g.92014296G>A" "" "VUS" "" "0000096960" "0" "50" "7" "91727479" "91727479" "subst" "0.000927697" "01602" "AKAP9_000058" "g.91727479A>T" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs139046510" "0" "" "" "g.92098165A>T" "" "VUS" "" "0000168860" "0" "50" "7" "91694701" "91694701" "subst" "0.000676133" "01602" "AKAP9_000059" "g.91694701A>G" "" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "" "" "Unknown" "" "rs139963188" "0" "" "" "g.92065387A>G" "" "VUS" "" "0000217956" "0" "50" "7" "91714169" "91714169" "subst" "0.000109788" "02244" "AKAP9_000062" "g.91714169C>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.92084855C>A" "" "VUS" "" "0000218391" "0" "50" "7" "91708982" "91708982" "subst" "1.62763E-5" "02244" "AKAP9_000061" "g.91708982A>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.92079668A>T" "" "VUS" "" "0000218400" "0" "50" "7" "91624032" "91624032" "subst" "6.10441E-5" "02244" "AKAP9_000060" "g.91624032T>C" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.91994718T>C" "" "VUS" "" "0000246562" "0" "10" "7" "91729127" "91729127" "subst" "0.00700437" "02330" "AKAP9_000162" "g.91729127A>G" "" "" "" "AKAP9(NM_005751.4):c.10840A>G (p.M3614V), AKAP9(NM_005751.5):c.10840A>G (p.M3614V, p.(Met3614Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92099813A>G" "" "benign" "" "0000246565" "0" "10" "7" "91712609" "91712609" "subst" "0.0010016" "02330" "AKAP9_000139" "g.91712609A>C" "" "" "" "AKAP9(NM_005751.4):c.8286A>C (p.K2762N), AKAP9(NM_005751.5):c.8286A>C (p.K2762N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92083295A>C" "" "benign" "" "0000246566" "0" "10" "7" "91694541" "91694541" "subst" "0.00189468" "02330" "AKAP9_000179" "g.91694541A>G" "" "" "" "AKAP9(NM_005751.4):c.5978-4A>G, AKAP9(NM_005751.5):c.5978-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92065227A>G" "" "benign" "" "0000246567" "0" "30" "7" "91682236" "91682236" "subst" "2.85293E-5" "02330" "AKAP9_000111" "g.91682236A>G" "" "" "" "AKAP9(NM_005751.4):c.5565A>G (p.E1855=), AKAP9(NM_005751.5):c.5565A>G (p.E1855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92052922A>G" "" "likely benign" "" "0000246571" "0" "10" "7" "91641928" "91641928" "subst" "0.3788" "02330" "AKAP9_000094" "g.91641928A>G" "" "" "" "AKAP9(NM_005751.5):c.3504A>G (p.E1168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92012614A>G" "" "benign" "" "0000246572" "0" "10" "7" "91726927" "91726927" "subst" "0.379667" "02330" "AKAP9_000156" "g.91726927A>C" "" "" "" "AKAP9(NM_005751.5):c.10426A>C (p.R3476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92097613A>C" "" "benign" "" "0000246586" "0" "10" "7" "91624931" "91624931" "subst" "0.00242576" "02330" "AKAP9_000172" "g.91624931A>G" "" "" "" "AKAP9(NM_005751.5):c.747A>G (p.E249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91995617A>G" "" "benign" "" "0000246587" "0" "10" "7" "91630284" "91630284" "subst" "0.000564759" "02330" "AKAP9_000072" "g.91630284A>G" "" "" "" "AKAP9(NM_005751.5):c.1053A>G (p.K351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92000970A>G" "" "benign" "" "0000246588" "0" "10" "7" "91632297" "91632297" "subst" "4.88691E-5" "02330" "AKAP9_000087" "g.91632297A>G" "" "" "" "AKAP9(NM_005751.5):c.3066A>G (p.G1022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92002983A>G" "" "benign" "" "0000246589" "0" "10" "7" "91670120" "91670120" "subst" "0.000601406" "02330" "AKAP9_000105" "g.91670120A>C" "" "" "" "AKAP9(NM_005751.5):c.4825A>C (p.R1609=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92040806A>C" "" "benign" "" "0000246590" "0" "10" "7" "91706252" "91706252" "subst" "0.000659273" "02330" "AKAP9_000121" "g.91706252A>G" "" "" "" "AKAP9(NM_005751.5):c.6696A>G (p.Q2232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92076938A>G" "" "benign" "" "0000246591" "0" "10" "7" "91709025" "91709025" "subst" "1.22054E-5" "02330" "AKAP9_000133" "g.91709025A>G" "" "" "" "AKAP9(NM_005751.5):c.7578A>G (p.Q2526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92079711A>G" "" "benign" "" "0000246595" "0" "10" "7" "91708898" "91708898" "subst" "0.108066" "02330" "AKAP9_000131" "g.91708898A>G" "" "" "" "AKAP9(NM_005751.5):c.7451A>G (p.K2484R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92079584A>G" "" "benign" "" "0000246597" "0" "10" "7" "91715609" "91715609" "subst" "0.00129993" "02330" "AKAP9_000148" "g.91715609A>G" "" "" "" "AKAP9(NM_005751.5):c.9092A>G (p.Q3031R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92086295A>G" "" "benign" "" "0000246598" "0" "10" "7" "91726604" "91726604" "subst" "0.00369384" "02330" "AKAP9_000155" "g.91726604A>G" "" "" "" "AKAP9(NM_005751.4):c.10331A>G (p.Q3444R), AKAP9(NM_005751.5):c.10331A>G (p.Q3444R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92097290A>G" "" "benign" "" "0000246600" "0" "10" "7" "91632424" "91632424" "subst" "0.000474799" "02330" "AKAP9_000088" "g.91632424A>G" "" "" "" "AKAP9(NM_005751.5):c.3193A>G (p.S1065G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92003110A>G" "" "benign" "" "0000246624" "0" "10" "7" "91660820" "91660820" "subst" "0.000333542" "02330" "AKAP9_000103" "g.91660820A>T" "" "" "" "AKAP9(NM_005751.5):c.4246-6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92031506A>T" "" "benign" "" "0000246625" "0" "10" "7" "91700199" "91700199" "subst" "0.00117316" "02330" "AKAP9_000117" "g.91700199A>T" "" "" "" "AKAP9(NM_005751.5):c.6508-20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92070885A>T" "" "benign" "" "0000246626" "0" "10" "7" "91700201" "91700201" "subst" "8.79044E-6" "02330" "AKAP9_000118" "g.91700201A>T" "" "" "" "AKAP9(NM_005751.5):c.6508-18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92070887A>T" "" "benign" "" "0000246627" "0" "10" "7" "91734981" "91734981" "subst" "0.00141744" "02330" "AKAP9_000169" "g.91734981A>T" "" "" "" "AKAP9(NM_005751.5):c.11331-11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92105667A>T" "" "benign" "" "0000246633" "0" "10" "7" "91670167" "91670167" "subst" "9.34921E-5" "02330" "AKAP9_000108" "g.91670167A>G" "" "" "" "AKAP9(NM_005751.4):c.4872A>G (p.E1624=), AKAP9(NM_005751.5):c.4872A>G (p.E1624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92040853A>G" "" "benign" "" "0000246634" "0" "30" "7" "91667736" "91667736" "subst" "0.000608004" "02330" "AKAP9_000104" "g.91667736A>G" "" "" "" "AKAP9(NM_005751.4):c.4342A>G (p.I1448V), AKAP9(NM_005751.5):c.4342A>G (p.I1448V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92038422A>G" "" "likely benign" "" "0000246635" "0" "30" "7" "91727487" "91727487" "subst" "0.000756965" "02330" "AKAP9_000160" "g.91727487A>G" "" "" "" "AKAP9(NM_005751.5):c.10672A>G (p.I3558V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92098173A>G" "" "likely benign" "" "0000246636" "0" "30" "7" "91632530" "91632530" "subst" "1.66003E-5" "02330" "AKAP9_000090" "g.91632530A>G" "" "" "" "AKAP9(NM_005751.5):c.3299A>G (p.N1100S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92003216A>G" "" "likely benign" "" "0000246642" "0" "30" "7" "91622372" "91622372" "subst" "0" "02330" "AKAP9_000069" "g.91622372A>G" "" "" "" "AKAP9(NM_005751.5):c.576+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91993058A>G" "" "likely benign" "" "0000246648" "0" "50" "7" "91631234" "91631234" "subst" "0" "02330" "AKAP9_000080" "g.91631234A>C" "" "" "" "AKAP9(NM_005751.5):c.2003A>C (p.D668A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001920A>C" "" "VUS" "" "0000246649" "0" "50" "7" "91712875" "91712875" "subst" "0" "02330" "AKAP9_000142" "g.91712875A>C" "" "" "" "AKAP9(NM_005751.5):c.8552A>C (p.E2851A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92083561A>C" "" "VUS" "" "0000246651" "0" "50" "7" "91732133" "91732133" "subst" "0" "02330" "AKAP9_000168" "g.91732133A>T" "" "" "" "AKAP9(NM_005751.5):c.11323A>T (p.I3775F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92102819A>T" "" "VUS" "" "0000246657" "0" "50" "7" "91670132" "91670132" "subst" "4.06388E-6" "02330" "AKAP9_000107" "g.91670132A>G" "" "" "" "AKAP9(NM_005751.4):c.4837A>G (p.M1613V), AKAP9(NM_005751.5):c.4837A>G (p.M1613V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92040818A>G" "" "VUS" "" "0000246658" "0" "50" "7" "91646382" "91646382" "subst" "0" "02330" "AKAP9_000096" "g.91646382A>G" "" "" "" "AKAP9(NM_005751.4):c.3803A>G (p.N1268S), AKAP9(NM_005751.5):c.3803A>G (p.N1268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92017068A>G" "" "VUS" "" "0000246661" "0" "50" "7" "91712791" "91712791" "subst" "4.49699E-5" "02330" "AKAP9_000140" "g.91712791A>G" "" "" "" "AKAP9(NM_005751.5):c.8468A>G (p.Q2823R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92083477A>G" "" "VUS" "" "0000248366" "0" "10" "7" "91641928" "91641928" "subst" "0.3788" "02325" "AKAP9_000094" "g.91641928A>G" "" "" "" "AKAP9(NM_005751.5):c.3504A>G (p.E1168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92012614A>G" "" "benign" "" "0000248367" "0" "10" "7" "91726927" "91726927" "subst" "0.379667" "02325" "AKAP9_000156" "g.91726927A>C" "" "" "" "AKAP9(NM_005751.5):c.10426A>C (p.R3476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92097613A>C" "" "benign" "" "0000250966" "0" "10" "7" "91729127" "91729127" "subst" "0.00700437" "02326" "AKAP9_000162" "g.91729127A>G" "" "" "" "AKAP9(NM_005751.4):c.10840A>G (p.M3614V), AKAP9(NM_005751.5):c.10840A>G (p.M3614V, p.(Met3614Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92099813A>G" "" "benign" "" "0000251403" "0" "10" "7" "91713017" "91713017" "subst" "0" "02326" "AKAP9_000143" "g.91713017A>T" "" "" "" "AKAP9(NM_005751.4):c.8646+48A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92083703A>T" "" "benign" "" "0000251733" "0" "30" "7" "91712609" "91712609" "subst" "0.0010016" "02326" "AKAP9_000139" "g.91712609A>C" "" "" "" "AKAP9(NM_005751.4):c.8286A>C (p.K2762N), AKAP9(NM_005751.5):c.8286A>C (p.K2762N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92083295A>C" "" "likely benign" "" "0000251743" "0" "30" "7" "91694541" "91694541" "subst" "0.00189468" "02326" "AKAP9_000179" "g.91694541A>G" "" "" "" "AKAP9(NM_005751.4):c.5978-4A>G, AKAP9(NM_005751.5):c.5978-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92065227A>G" "" "likely benign" "" "0000251751" "0" "30" "7" "91682236" "91682236" "subst" "2.85293E-5" "02326" "AKAP9_000111" "g.91682236A>G" "" "" "" "AKAP9(NM_005751.4):c.5565A>G (p.E1855=), AKAP9(NM_005751.5):c.5565A>G (p.E1855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92052922A>G" "" "likely benign" "" "0000251792" "0" "30" "7" "91707081" "91707081" "subst" "8.13531E-6" "02326" "AKAP9_000123" "g.91707081A>G" "" "" "" "AKAP9(NM_005751.4):c.6837A>G (p.L2279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92077767A>G" "" "likely benign" "" "0000251793" "0" "30" "7" "91708521" "91708521" "subst" "6.10252E-5" "02326" "AKAP9_000126" "g.91708521A>G" "" "" "" "AKAP9(NM_005751.4):c.7074A>G (p.K2358=), AKAP9(NM_005751.5):c.7074A>G (p.K2358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92079207A>G" "" "likely benign" "" "0000251894" "0" "30" "7" "91726481" "91726481" "subst" "0" "02326" "AKAP9_000184" "g.91726481A>G" "" "" "" "AKAP9(NM_005751.4):c.10208A>G (p.K3403R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92097167A>G" "" "likely benign" "" "0000251942" "0" "30" "7" "91709404" "91709404" "subst" "0" "02326" "AKAP9_000138" "g.91709404A>G" "" "" "" "AKAP9(NM_005751.4):c.7957A>G (p.N2653D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92080090A>G" "" "likely benign" "" "0000251961" "0" "30" "7" "91630490" "91630490" "subst" "5.708E-5" "02326" "AKAP9_000073" "g.91630490A>G" "" "" "" "AKAP9(NM_005751.4):c.1259A>G (p.Q420R), AKAP9(NM_005751.5):c.1259A>G (p.Q420R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001176A>G" "" "likely benign" "" "0000255128" "0" "30" "7" "91630179" "91630179" "subst" "0.000524559" "01943" "AKAP9_000071" "g.91630179A>G" "" "" "" "AKAP9(NM_005751.4):c.948A>G (p.V316=), AKAP9(NM_005751.5):c.948A>G (p.V316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92000865A>G" "" "likely benign" "" "0000257478" "0" "30" "7" "91726391" "91726391" "subst" "0.00138994" "02330" "AKAP9_000055" "g.91726391C>A" "" "" "" "AKAP9(NM_005751.4):c.10118C>A (p.S3373Y, p.(Ser3373Tyr)), AKAP9(NM_005751.5):c.10118C>A (p.S3373Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92097077C>A" "" "likely benign" "" "0000257479" "0" "10" "7" "91726470" "91726470" "subst" "0.00129996" "02330" "AKAP9_000153" "g.91726470T>C" "" "" "" "AKAP9(NM_005751.5):c.10197T>C (p.T3399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92097156T>C" "" "benign" "" "0000257480" "0" "30" "7" "91726527" "91726527" "subst" "0.00071301" "02330" "AKAP9_000154" "g.91726527G>C" "" "" "" "AKAP9(NM_005751.4):c.10254G>C (p.Q3418H), AKAP9(NM_005751.5):c.10254G>C (p.Q3418H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92097213G>C" "" "likely benign" "" "0000257481" "0" "30" "7" "91726960" "91726960" "subst" "0.000589148" "02330" "AKAP9_000157" "g.91726960G>A" "" "" "" "AKAP9(NM_005751.5):c.10459G>A (p.E3487K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92097646G>A" "" "likely benign" "" "0000257482" "0" "10" "7" "91726986" "91726986" "subst" "6.09271E-5" "02330" "AKAP9_000158" "g.91726986C>T" "" "" "" "AKAP9(NM_005751.5):c.10485C>T (p.Y3495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92097672C>T" "" "benign" "" "0000257483" "0" "10" "7" "91727408" "91727408" "subst" "0.00381034" "02330" "AKAP9_000159" "g.91727408G>C" "" "" "" "AKAP9(NM_005751.4):c.10608-15G>C, AKAP9(NM_005751.5):c.10608-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92098094G>C" "" "benign" "" "0000257484" "0" "10" "7" "91729054" "91729054" "subst" "0.00110101" "02330" "AKAP9_000161" "g.91729054G>A" "" "" "" "AKAP9(NM_005751.4):c.10767G>A (p.L3589=), AKAP9(NM_005751.5):c.10767G>A (p.L3589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92099740G>A" "" "benign" "" "0000257485" "0" "10" "7" "91729132" "91729132" "subst" "0.00101579" "02330" "AKAP9_000163" "g.91729132G>A" "" "" "" "AKAP9(NM_005751.5):c.10845G>A (p.K3615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92099818G>A" "" "benign" "" "0000257486" "0" "10" "7" "91730322" "91730322" "subst" "2.43716E-5" "02330" "AKAP9_000165" "g.91730322C>T" "" "" "" "AKAP9(NM_005751.5):c.11049C>T (p.D3683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92101008C>T" "" "benign" "" "0000257487" "0" "10" "7" "91732083" "91732083" "subst" "0.00169052" "02330" "AKAP9_000167" "g.91732083G>A" "" "" "" "AKAP9(NM_005751.4):c.11273G>A (p.R3758H), AKAP9(NM_005751.5):c.11273G>A (p.R3758H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92102769G>A" "" "benign" "" "0000257488" "0" "10" "7" "91736603" "91736603" "subst" "0" "02330" "AKAP9_000170" "g.91736603T>G" "" "" "" "AKAP9(NM_005751.5):c.11417-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92107289T>G" "" "benign" "" "0000257489" "0" "50" "7" "91736684" "91736684" "subst" "0.000105613" "02330" "AKAP9_000171" "g.91736684C>T" "" "" "" "AKAP9(NM_005751.5):c.11494C>T (p.R3832C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92107370C>T" "" "VUS" "" "0000257490" "0" "50" "7" "91630493" "91630493" "subst" "2.03938E-5" "02330" "AKAP9_000074" "g.91630493G>A" "" "" "" "AKAP9(NM_005751.5):c.1262G>A (p.R421Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001179G>A" "" "VUS" "" "0000257491" "0" "10" "7" "91630532" "91630532" "subst" "0.00275765" "02330" "AKAP9_000173" "g.91630532G>A" "" "" "" "AKAP9(NM_005751.5):c.1301G>A (p.R434Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001218G>A" "" "benign" "" "0000257492" "0" "10" "7" "91630620" "91630620" "subst" "0.378156" "02330" "AKAP9_000075" "g.91630620G>T" "" "" "" "AKAP9(NM_005751.5):c.1389G>T (p.M463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001306G>T" "" "benign" "" "0000257493" "0" "10" "7" "91603115" "91603115" "subst" "0.00809205" "02330" "AKAP9_000064" "g.91603115C>T" "" "" "" "AKAP9(NM_005751.4):c.139C>T (p.H47Y), AKAP9(NM_005751.5):c.139C>T (p.H47Y, p.(His47Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91973801C>T" "" "benign" "" "0000257494" "0" "30" "7" "91630745" "91630745" "subst" "0" "02330" "AKAP9_000076" "g.91630745C>G" "" "" "" "AKAP9(NM_005751.5):c.1514C>G (p.T505S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001431C>G" "" "likely benign" "" "0000257495" "0" "10" "7" "91630767" "91630767" "subst" "0.00149873" "02330" "AKAP9_000174" "g.91630767C>T" "" "" "" "AKAP9(NM_005751.4):c.1536C>T (p.L512=), AKAP9(NM_005751.5):c.1536C>T (p.L512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001453C>T" "" "benign" "" "0000257496" "0" "10" "7" "91630806" "91630806" "subst" "0.000211873" "02330" "AKAP9_000077" "g.91630806T>C" "" "" "" "AKAP9(NM_005751.5):c.1575T>C (p.A525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001492T>C" "" "benign" "" "0000257497" "0" "10" "7" "91603147" "91603147" "subst" "0" "02330" "AKAP9_000065" "g.91603147T>C" "" "" "" "AKAP9(NM_005751.5):c.171T>C (p.I57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91973833T>C" "" "benign" "" "0000257498" "0" "50" "7" "91631057" "91631057" "subst" "0" "02330" "AKAP9_000078" "g.91631057C>A" "" "" "" "AKAP9(NM_005751.5):c.1826C>A (p.A609D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001743C>A" "" "VUS" "" "0000257499" "0" "50" "7" "91631131" "91631131" "subst" "0.000150671" "02330" "AKAP9_000176" "g.91631131G>A" "" "" "" "AKAP9(NM_005751.5):c.1900G>A (p.E634K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001817G>A" "" "VUS" "" "0000257500" "0" "50" "7" "91631177" "91631177" "subst" "4.08243E-6" "02330" "AKAP9_000079" "g.91631177G>A" "" "" "" "AKAP9(NM_005751.5):c.1946G>A (p.R649Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001863G>A" "" "VUS" "" "0000257501" "0" "50" "7" "91631785" "91631785" "subst" "1.24279E-5" "02330" "AKAP9_000081" "g.91631785T>C" "" "" "" "AKAP9(NM_005751.5):c.2554T>C (p.F852L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92002471T>C" "" "VUS" "" "0000257502" "0" "50" "7" "91631812" "91631812" "subst" "0.000788179" "02330" "AKAP9_000082" "g.91631812T>C" "" "" "" "AKAP9(NM_005751.5):c.2581T>C (p.Y861H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92002498T>C" "" "VUS" "" "0000257503" "0" "50" "7" "91631840" "91631840" "subst" "0.000203492" "02330" "AKAP9_000083" "g.91631840G>A" "" "" "" "AKAP9(NM_005751.5):c.2609G>A (p.C870Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92002526G>A" "" "VUS" "" "0000257504" "0" "10" "7" "91632013" "91632013" "subst" "0.00380791" "02330" "AKAP9_000084" "g.91632013T>C" "" "" "" "AKAP9(NM_005751.4):c.2782T>C (p.L928=), AKAP9(NM_005751.5):c.2782T>C (p.L928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92002699T>C" "" "benign" "" "0000257505" "0" "50" "7" "91632286" "91632286" "subst" "1.63006E-5" "02330" "AKAP9_000086" "g.91632286T>G" "" "" "" "AKAP9(NM_005751.5):c.3055T>G (p.L1019V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92002972T>G" "" "VUS" "" "0000257506" "0" "10" "7" "91632306" "91632306" "subst" "0.892541" "02330" "AKAP9_000177" "g.91632306C>T" "" "" "" "AKAP9(NM_005751.5):c.3075C>T (p.T1025=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92002992C>T" "" "benign" "" "0000257507" "0" "10" "7" "91632454" "91632454" "subst" "0.000736038" "02330" "AKAP9_000089" "g.91632454T>C" "" "" "" "AKAP9(NM_005751.4):c.3223T>C (p.L1075=), AKAP9(NM_005751.5):c.3223T>C (p.L1075=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92003140T>C" "" "benign" "" "0000257508" "0" "10" "7" "91632562" "91632562" "subst" "0.00687813" "02330" "AKAP9_000091" "g.91632562C>A" "" "" "" "AKAP9(NM_005751.5):c.3318+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92003248C>A" "" "benign" "" "0000257509" "0" "50" "7" "91641788" "91641789" "del" "0" "02330" "AKAP9_000092" "g.91641788_91641789del" "" "" "" "AKAP9(NM_005751.5):c.3364_3365delCT (p.L1122Gfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92012474_92012475del" "" "VUS" "" "0000257510" "0" "30" "7" "91641854" "91641854" "subst" "0.000438732" "02330" "AKAP9_000093" "g.91641854T>C" "" "" "" "AKAP9(NM_005751.5):c.3430T>C (p.C1144R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92012540T>C" "" "likely benign" "" "0000257511" "0" "50" "7" "91646372" "91646372" "subst" "4.48499E-5" "02330" "AKAP9_000095" "g.91646372G>A" "" "" "" "AKAP9(NM_005751.4):c.3793G>A (p.E1265K), AKAP9(NM_005751.5):c.3793G>A (p.E1265K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92017058G>A" "" "VUS" "" "0000257512" "0" "10" "7" "91646406" "91646406" "subst" "0.00924742" "02330" "AKAP9_000054" "g.91646406G>A" "" "" "" "AKAP9(NM_005751.5):c.3827G>A (p.R1276Q, p.(Arg1276Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92017092G>A" "" "benign" "" "0000257513" "0" "10" "7" "91652179" "91652181" "dup" "0" "02330" "AKAP9_000097" "g.91652179_91652181dup" "" "" "" "AKAP9(NM_005751.5):c.4004_4006dupAAC (p.K1335_L1336insQ)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92022865_92022867dup" "" "benign" "" "0000257514" "0" "10" "7" "91652341" "91652341" "subst" "0.000190931" "02330" "AKAP9_000100" "g.91652341G>C" "" "" "" "AKAP9(NM_005751.4):c.4148+18G>C, AKAP9(NM_005751.5):c.4148+18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92023027G>C" "" "benign" "" "0000257515" "0" "50" "7" "91659211" "91659211" "subst" "0" "02330" "AKAP9_000101" "g.91659211T>A" "" "" "" "AKAP9(NM_005751.5):c.4151T>A (p.L1384*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92029897T>A" "" "VUS" "" "0000257516" "0" "10" "7" "91659259" "91659259" "subst" "0.0119252" "02330" "AKAP9_000102" "g.91659259T>C" "" "" "" "AKAP9(NM_005751.5):c.4199T>C (p.M1400T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92029945T>C" "" "benign" "" "0000257517" "0" "50" "7" "91670121" "91670121" "subst" "0.00053239" "02330" "AKAP9_000106" "g.91670121G>A" "" "" "" "AKAP9(NM_005751.4):c.4826G>A (p.R1609K), AKAP9(NM_005751.5):c.4826G>A (p.R1609K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92040807G>A" "" "VUS" "" "0000257518" "0" "10" "7" "91670136" "91670136" "subst" "0.00180042" "02330" "AKAP9_000178" "g.91670136G>A" "" "" "" "AKAP9(NM_005751.5):c.4841G>A (p.R1614Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92040822G>A" "" "benign" "" "0000257519" "0" "10" "7" "91622303" "91622303" "subst" "0.0018894" "02330" "AKAP9_000068" "g.91622303G>C" "" "" "" "AKAP9(NM_005751.4):c.510G>C (p.E170D), AKAP9(NM_005751.5):c.510G>C (p.E170D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91992989G>C" "" "benign" "" "0000257520" "0" "10" "7" "91674302" "91674302" "subst" "0.391288" "02330" "AKAP9_000109" "g.91674302G>A" "" "" "" "AKAP9(NM_005751.5):c.5163-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92044988G>A" "" "benign" "" "0000257521" "0" "30" "7" "91674405" "91674405" "subst" "0.000719612" "02330" "AKAP9_000053" "g.91674405T>C" "" "" "" "AKAP9(NM_005751.4):c.5246T>C (p.I1749T), AKAP9(NM_005751.5):c.5246T>C (p.I1749T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92045091T>C" "" "likely benign" "" "0000257522" "0" "10" "7" "91682037" "91682037" "subst" "0.000155314" "02330" "AKAP9_000110" "g.91682037T>C" "" "" "" "AKAP9(NM_005751.4):c.5369-3T>C, AKAP9(NM_005751.5):c.5369-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92052723T>C" "" "benign" "" "0000257523" "0" "10" "7" "91690582" "91690582" "subst" "6.91715E-5" "02330" "AKAP9_000112" "g.91690582T>C" "" "" "" "AKAP9(NM_005751.5):c.5610T>C (p.H1870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92061268T>C" "" "benign" "" "0000257524" "0" "50" "7" "91690697" "91690697" "subst" "0.000293164" "02330" "AKAP9_000113" "g.91690697G>A" "" "" "" "AKAP9(NM_005751.5):c.5725G>A (p.A1909T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92061383G>A" "" "VUS" "" "0000257525" "0" "50" "7" "91691590" "91691590" "subst" "4.48018E-5" "02330" "AKAP9_000114" "g.91691590G>A" "" "" "" "AKAP9(NM_005751.5):c.5767G>A (p.V1923I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92062276G>A" "" "VUS" "" "0000257526" "0" "10" "7" "91691601" "91691601" "subst" "0.375296" "02330" "AKAP9_000115" "g.91691601C>T" "" "" "" "AKAP9(NM_005751.5):c.5778C>T (p.G1926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92062287C>T" "" "benign" "" "0000257527" "0" "30" "7" "91694604" "91694604" "subst" "0.00109587" "02330" "AKAP9_000116" "g.91694604G>A" "" "" "" "AKAP9(NM_005751.4):c.6037G>A (p.E2013K), AKAP9(NM_005751.5):c.6037G>A (p.E2013K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92065290G>A" "" "likely benign" "" "0000257528" "0" "30" "7" "91623968" "91623968" "subst" "0.000496824" "02330" "AKAP9_000070" "g.91623968G>A" "" "" "" "AKAP9(NM_005751.5):c.610G>A (p.D204N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91994654G>A" "" "likely benign" "" "0000257529" "0" "50" "7" "91694762" "91694762" "subst" "2.46688E-5" "02330" "AKAP9_000180" "g.91694762G>A" "" "" "" "AKAP9(NM_005751.5):c.6195G>A (p.M2065I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92065448G>A" "" "VUS" "" "0000257530" "0" "10" "7" "91695779" "91695779" "subst" "0.000981454" "02330" "AKAP9_000181" "g.91695779C>T" "" "" "" "AKAP9(NM_005751.4):c.6249C>T (p.F2083=), AKAP9(NM_005751.5):c.6249C>T (p.F2083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92066465C>T" "" "benign" "" "0000257531" "0" "10" "7" "91700201" "91700204" "del" "0" "02330" "AKAP9_000182" "g.91700201_91700204del" "" "" "" "AKAP9(NM_005751.5):c.6508-18_6508-15delATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92070887_92070890del" "" "benign" "" "0000257532" "0" "30" "7" "91700229" "91700229" "subst" "0.000129999" "02330" "AKAP9_000183" "g.91700229G>A" "" "" "" "AKAP9(NM_005751.5):c.6518G>A (p.R2173Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92070915G>A" "" "likely benign" "" "0000257533" "0" "10" "7" "91700267" "91700267" "subst" "0.0033547" "02330" "AKAP9_000119" "g.91700267T>C" "" "" "" "AKAP9(NM_005751.4):c.6556T>C (p.S2186P), AKAP9(NM_005751.5):c.6556T>C (p.S2186P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92070953T>C" "" "benign" "" "0000257534" "0" "50" "7" "91700279" "91700279" "subst" "4.06161E-6" "02330" "AKAP9_000120" "g.91700279C>G" "" "" "" "AKAP9(NM_005751.5):c.6568C>G (p.Q2190E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92070965C>G" "" "VUS" "" "0000257535" "0" "50" "7" "91706324" "91706329" "del" "0" "02330" "AKAP9_000122" "g.91706324_91706329del" "" "" "" "AKAP9(NM_005751.5):c.6765+3_6765+8delAATTAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92077010_92077015del" "" "VUS" "" "0000257536" "0" "10" "7" "91707197" "91707197" "subst" "0.374004" "02330" "AKAP9_000124" "g.91707197C>T" "" "" "" "AKAP9(NM_005751.5):c.6945+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92077883C>T" "" "benign" "" "0000257537" "0" "10" "7" "91708470" "91708470" "subst" "4.06788E-6" "02330" "AKAP9_000125" "g.91708470G>A" "" "" "" "AKAP9(NM_005751.5):c.7023G>A (p.V2341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92079156G>A" "" "benign" "" "0000257538" "0" "30" "7" "91708637" "91708637" "subst" "5.30175E-5" "02330" "AKAP9_000127" "g.91708637C>G" "" "" "" "AKAP9(NM_005751.5):c.7190C>G (p.A2397G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92079323C>G" "" "likely benign" "" "0000257539" "0" "10" "7" "91708722" "91708722" "subst" "0.00299272" "02330" "AKAP9_000128" "g.91708722G>A" "" "" "" "AKAP9(NM_005751.4):c.7275G>A (p.Q2425=), AKAP9(NM_005751.5):c.7275G>A (p.Q2425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92079408G>A" "" "benign" "" "0000257540" "0" "30" "7" "91708802" "91708805" "del" "0" "02330" "AKAP9_000130" "g.91708802_91708805del" "" "" "" "AKAP9(NM_005751.5):c.7355_7358delACGT (p.N2452Rfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92079488_92079491del" "" "likely benign" "" "0000257541" "0" "30" "7" "91708935" "91708935" "subst" "0.000317882" "02330" "AKAP9_000132" "g.91708935T>G" "" "" "" "AKAP9(NM_005751.4):c.7488T>G (p.(Asn2496Lys)), AKAP9(NM_005751.5):c.7488T>G (p.N2496K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92079621T>G" "" "likely benign" "" "0000257542" "0" "50" "7" "91709222" "91709222" "subst" "4.06683E-6" "02330" "AKAP9_000135" "g.91709222T>A" "" "" "" "AKAP9(NM_005751.5):c.7775T>A (p.L2592Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92079908T>A" "" "VUS" "" "0000257543" "0" "10" "7" "91709235" "91709235" "subst" "8.13359E-6" "02330" "AKAP9_000136" "g.91709235G>A" "" "" "" "AKAP9(NM_005751.4):c.7788G>A (p.E2596=), AKAP9(NM_005751.5):c.7788G>A (p.E2596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92079921G>A" "" "benign" "" "0000257544" "0" "10" "7" "91603056" "91603056" "subst" "0.00177152" "02330" "AKAP9_000063" "g.91603056C>T" "" "" "" "AKAP9(NM_005751.4):c.80C>T (p.S27L), AKAP9(NM_005751.5):c.80C>T (p.S27L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91973742C>T" "" "benign" "" "0000257545" "0" "30" "7" "91712808" "91712808" "subst" "0.00065563" "02330" "AKAP9_000141" "g.91712808G>A" "" "" "" "AKAP9(NM_005751.4):c.8485G>A (p.E2829K), AKAP9(NM_005751.5):c.8485G>A (p.E2829K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92083494G>A" "" "likely benign" "" "0000257546" "0" "10" "7" "91713972" "91713972" "subst" "0.377879" "02330" "AKAP9_000144" "g.91713972C>T" "" "" "" "AKAP9(NM_005751.5):c.8665C>T (p.L2889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92084658C>T" "" "benign" "" "0000257547" "0" "50" "7" "91714002" "91714002" "subst" "4.06686E-6" "02330" "AKAP9_000145" "g.91714002G>A" "" "" "" "AKAP9(NM_005751.5):c.8695G>A (p.E2899K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92084688G>A" "" "VUS" "" "0000257548" "0" "30" "7" "91714169" "91714169" "subst" "0.000109788" "02330" "AKAP9_000062" "g.91714169C>A" "" "" "" "AKAP9(NM_005751.5):c.8747C>A (p.T2916K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92084855C>A" "" "likely benign" "" "0000257549" "0" "10" "7" "91714911" "91714911" "subst" "0.996233" "02330" "AKAP9_000146" "g.91714911C>T" "" "" "" "AKAP9(NM_005751.5):c.8935C>T (p.P2979S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92085597C>T" "" "benign" "" "0000257550" "0" "10" "7" "91714997" "91714997" "subst" "2.46702E-5" "02330" "AKAP9_000147" "g.91714997C>T" "" "" "" "AKAP9(NM_005751.5):c.9021C>T (p.A3007=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92085683C>T" "" "benign" "" "0000257551" "0" "10" "7" "91715662" "91715662" "subst" "0.359268" "02330" "AKAP9_000149" "g.91715662C>T" "" "" "" "AKAP9(NM_005751.5):c.9145C>T (p.L3049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92086348C>T" "" "benign" "" "0000257552" "0" "10" "7" "91715698" "91715698" "subst" "6.50216E-5" "02330" "AKAP9_000150" "g.91715698C>T" "" "" "" "AKAP9(NM_005751.5):c.9181C>T (p.L3061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92086384C>T" "" "benign" "" "0000257553" "0" "10" "7" "91718854" "91718854" "subst" "0.00121803" "02330" "AKAP9_000151" "g.91718854T>C" "" "" "" "AKAP9(NM_005751.4):c.9358+11T>C, AKAP9(NM_005751.5):c.9358+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92089540T>C" "" "benign" "" "0000257554" "0" "10" "7" "91726202" "91726202" "subst" "0.00158907" "02330" "AKAP9_000152" "g.91726202G>A" "" "" "" "AKAP9(NM_005751.5):c.9929G>A (p.R3310Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92096888G>A" "" "benign" "" "0000258731" "0" "10" "7" "91630620" "91630620" "subst" "0.378156" "02325" "AKAP9_000075" "g.91630620G>T" "" "" "" "AKAP9(NM_005751.5):c.1389G>T (p.M463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001306G>T" "" "benign" "" "0000258732" "0" "10" "7" "91632306" "91632306" "subst" "0.892541" "02325" "AKAP9_000177" "g.91632306C>T" "" "" "" "AKAP9(NM_005751.5):c.3075C>T (p.T1025=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92002992C>T" "" "benign" "" "0000258733" "0" "10" "7" "91674302" "91674302" "subst" "0.391288" "02325" "AKAP9_000109" "g.91674302G>A" "" "" "" "AKAP9(NM_005751.5):c.5163-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92044988G>A" "" "benign" "" "0000258734" "0" "10" "7" "91691601" "91691601" "subst" "0.375296" "02325" "AKAP9_000115" "g.91691601C>T" "" "" "" "AKAP9(NM_005751.5):c.5778C>T (p.G1926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92062287C>T" "" "benign" "" "0000258735" "0" "10" "7" "91707197" "91707197" "subst" "0.374004" "02325" "AKAP9_000124" "g.91707197C>T" "" "" "" "AKAP9(NM_005751.5):c.6945+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92077883C>T" "" "benign" "" "0000258736" "0" "10" "7" "91713972" "91713972" "subst" "0.377879" "02325" "AKAP9_000144" "g.91713972C>T" "" "" "" "AKAP9(NM_005751.5):c.8665C>T (p.L2889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92084658C>T" "" "benign" "" "0000258737" "0" "10" "7" "91714911" "91714911" "subst" "0.996233" "02325" "AKAP9_000146" "g.91714911C>T" "" "" "" "AKAP9(NM_005751.5):c.8935C>T (p.P2979S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92085597C>T" "" "benign" "" "0000258738" "0" "10" "7" "91715662" "91715662" "subst" "0.359268" "02325" "AKAP9_000149" "g.91715662C>T" "" "" "" "AKAP9(NM_005751.5):c.9145C>T (p.L3049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92086348C>T" "" "benign" "" "0000260725" "0" "30" "7" "91726391" "91726391" "subst" "0.00138994" "02326" "AKAP9_000055" "g.91726391C>A" "" "" "" "AKAP9(NM_005751.4):c.10118C>A (p.S3373Y, p.(Ser3373Tyr)), AKAP9(NM_005751.5):c.10118C>A (p.S3373Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92097077C>A" "" "likely benign" "" "0000260726" "0" "30" "7" "91729174" "91729174" "subst" "1.21948E-5" "02326" "AKAP9_000164" "g.91729174T>C" "" "" "" "AKAP9(NM_005751.4):c.10887T>C (p.G3629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92099860T>C" "" "likely benign" "" "0000260727" "0" "70" "7" "91732040" "91732040" "subst" "4.46806E-5" "02326" "AKAP9_000166" "g.91732040G>T" "" "" "" "AKAP9(NM_005751.4):c.11230G>T (p.G3744W), AKAP9(NM_005751.5):c.11230G>T (p.G3744W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92102726G>T" "" "likely pathogenic" "" "0000260728" "0" "10" "7" "91603115" "91603115" "subst" "0.00809205" "02326" "AKAP9_000064" "g.91603115C>T" "" "" "" "AKAP9(NM_005751.4):c.139C>T (p.H47Y), AKAP9(NM_005751.5):c.139C>T (p.H47Y, p.(His47Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91973801C>T" "" "benign" "" "0000260729" "0" "30" "7" "91630968" "91630968" "subst" "0.000640252" "02326" "AKAP9_000175" "g.91630968T>G" "" "" "" "AKAP9(NM_005751.4):c.1737T>G (p.S579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001654T>G" "" "likely benign" "" "0000260730" "0" "50" "7" "91632098" "91632098" "subst" "4.07256E-6" "02326" "AKAP9_000085" "g.91632098C>T" "" "" "" "AKAP9(NM_005751.4):c.2867C>T (p.S956L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92002784C>T" "" "VUS" "" "0000260731" "0" "30" "7" "91652302" "91652302" "subst" "0.000584843" "02326" "AKAP9_000099" "g.91652302G>C" "" "" "" "AKAP9(NM_005751.4):c.4127G>C (p.S1376T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92022988G>C" "" "likely benign" "" "0000260732" "0" "30" "7" "91622303" "91622303" "subst" "0.0018894" "02326" "AKAP9_000068" "g.91622303G>C" "" "" "" "AKAP9(NM_005751.4):c.510G>C (p.E170D), AKAP9(NM_005751.5):c.510G>C (p.E170D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91992989G>C" "" "likely benign" "" "0000260733" "0" "30" "7" "91674405" "91674405" "subst" "0.000719612" "02326" "AKAP9_000053" "g.91674405T>C" "" "" "" "AKAP9(NM_005751.4):c.5246T>C (p.I1749T), AKAP9(NM_005751.5):c.5246T>C (p.I1749T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92045091T>C" "" "likely benign" "" "0000260734" "0" "30" "7" "91700267" "91700267" "subst" "0.0033547" "02326" "AKAP9_000119" "g.91700267T>C" "" "" "" "AKAP9(NM_005751.4):c.6556T>C (p.S2186P), AKAP9(NM_005751.5):c.6556T>C (p.S2186P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92070953T>C" "" "likely benign" "" "0000260735" "0" "50" "7" "91709075" "91709075" "subst" "6.91788E-5" "02326" "AKAP9_000134" "g.91709075T>C" "" "" "" "AKAP9(NM_005751.4):c.7628T>C (p.L2543P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92079761T>C" "" "VUS" "" "0000260736" "0" "30" "7" "91709333" "91709333" "subst" "0.000123529" "02326" "AKAP9_000137" "g.91709333T>C" "" "" "" "AKAP9(NM_005751.4):c.7886T>C (p.V2629A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92080019T>C" "" "likely benign" "" "0000260737" "0" "30" "7" "91603056" "91603056" "subst" "0.00177152" "02326" "AKAP9_000063" "g.91603056C>T" "" "" "" "AKAP9(NM_005751.4):c.80C>T (p.S27L), AKAP9(NM_005751.5):c.80C>T (p.S27L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91973742C>T" "" "likely benign" "" "0000262169" "0" "30" "7" "91729054" "91729054" "subst" "0.00110101" "01943" "AKAP9_000161" "g.91729054G>A" "" "" "" "AKAP9(NM_005751.4):c.10767G>A (p.L3589=), AKAP9(NM_005751.5):c.10767G>A (p.L3589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92099740G>A" "" "likely benign" "" "0000262170" "0" "30" "7" "91603056" "91603056" "subst" "0.00177152" "01943" "AKAP9_000063" "g.91603056C>T" "" "" "" "AKAP9(NM_005751.4):c.80C>T (p.S27L), AKAP9(NM_005751.5):c.80C>T (p.S27L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91973742C>T" "" "likely benign" "" "0000262171" "0" "10" "7" "91712808" "91712808" "subst" "0.00065563" "01943" "AKAP9_000141" "g.91712808G>A" "" "" "" "AKAP9(NM_005751.4):c.8485G>A (p.E2829K), AKAP9(NM_005751.5):c.8485G>A (p.E2829K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92083494G>A" "" "benign" "" "0000331672" "0" "50" "7" "91603264" "91603264" "subst" "0.000187042" "01804" "AKAP9_000066" "g.91603264G>T" "" "" "" "AKAP9(NM_005751.4):c.288G>T (p.(Glu96Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91973950G>T" "" "VUS" "" "0000331673" "0" "50" "7" "91621495" "91621495" "subst" "0" "01804" "AKAP9_000067" "g.91621495G>A" "" "" "" "AKAP9(NM_005751.4):c.375G>A (p.(Met125Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91992181G>A" "" "VUS" "" "0000331674" "0" "50" "7" "91630202" "91630202" "subst" "0.000543008" "01804" "AKAP9_000192" "g.91630202T>C" "" "" "" "AKAP9(NM_005751.4):c.971T>C (p.(Ile324Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92000888T>C" "" "VUS" "" "0000331675" "0" "50" "7" "91630435" "91630435" "subst" "5.2986E-5" "01804" "AKAP9_000194" "g.91630435G>A" "" "" "" "AKAP9(NM_005751.4):c.1204G>A (p.(Glu402Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92001121G>A" "" "VUS" "" "0000331676" "0" "50" "7" "91708761" "91708761" "subst" "7.73081E-5" "01804" "AKAP9_000129" "g.91708761A>T" "" "" "" "AKAP9(NM_005751.4):c.7314A>T (p.(Glu2438Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92079447A>T" "" "VUS" "" "0000406038" "0" "30" "7" "91630490" "91630490" "subst" "5.708E-5" "02529" "AKAP9_000073" "g.91630490A>G" "" "{PMID:Monasky 2019:31292628}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92001176A>G" "" "likely benign" "" "0000532865" "0" "30" "7" "91570408" "91570408" "subst" "4.06174E-6" "02330" "AKAP9_000185" "g.91570408G>T" "" "" "" "AKAP9(NM_005751.5):c.-6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91941094G>T" "" "likely benign" "" "0000532867" "0" "30" "7" "91603030" "91603030" "subst" "2.03927E-5" "02327" "AKAP9_000187" "g.91603030C>A" "" "" "" "AKAP9(NM_005751.5):c.54C>A (p.A18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91973716C>A" "" "likely benign" "" "0000532868" "0" "10" "7" "91603056" "91603056" "subst" "0.00177152" "02327" "AKAP9_000063" "g.91603056C>T" "" "" "" "AKAP9(NM_005751.4):c.80C>T (p.S27L), AKAP9(NM_005751.5):c.80C>T (p.S27L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91973742C>T" "" "benign" "" "0000532869" "0" "50" "7" "91603059" "91603059" "subst" "0" "01804" "AKAP9_000188" "g.91603059A>G" "" "" "" "AKAP9(NM_005751.4):c.83A>G (p.(Asp28Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91973745A>G" "" "VUS" "" "0000532870" "0" "10" "7" "91609659" "91609659" "subst" "2.61915E-5" "02330" "AKAP9_000189" "g.91609659T>C" "" "" "" "AKAP9(NM_005751.5):c.351+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91980345T>C" "" "benign" "" "0000532871" "0" "10" "7" "91622303" "91622303" "subst" "0.0018894" "02327" "AKAP9_000068" "g.91622303G>C" "" "" "" "AKAP9(NM_005751.4):c.510G>C (p.E170D), AKAP9(NM_005751.5):c.510G>C (p.E170D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91992989G>C" "" "benign" "" "0000532872" "0" "10" "7" "91624003" "91624003" "subst" "8.54506E-5" "02330" "AKAP9_000190" "g.91624003A>G" "" "" "" "AKAP9(NM_005751.5):c.645A>G (p.Q215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91994689A>G" "" "benign" "" "0000532873" "0" "30" "7" "91624072" "91624072" "subst" "0" "02327" "AKAP9_000191" "g.91624072A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91994758A>G" "" "likely benign" "" "0000532874" "0" "30" "7" "91630179" "91630179" "subst" "0.000524559" "02327" "AKAP9_000071" "g.91630179A>G" "" "" "" "AKAP9(NM_005751.4):c.948A>G (p.V316=), AKAP9(NM_005751.5):c.948A>G (p.V316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92000865A>G" "" "likely benign" "" "0000532875" "0" "30" "7" "91630330" "91630330" "subst" "0.0003436" "02327" "AKAP9_000193" "g.91630330G>A" "" "" "" "AKAP9(NM_005751.5):c.1099G>A (p.V367M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001016G>A" "" "likely benign" "" "0000532876" "0" "50" "7" "91630565" "91630565" "subst" "0.000114377" "02327" "AKAP9_000195" "g.91630565T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001251T>C" "" "VUS" "" "0000532877" "0" "10" "7" "91630603" "91630603" "subst" "0.000526204" "02326" "AKAP9_000196" "g.91630603G>C" "" "" "" "AKAP9(NM_005751.4):c.1372G>C (p.A458P), AKAP9(NM_005751.5):c.1372G>C (p.A458P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001289G>C" "" "benign" "" "0000532878" "0" "10" "7" "91630620" "91630620" "subst" "0.378156" "02327" "AKAP9_000075" "g.91630620G>T" "" "" "" "AKAP9(NM_005751.5):c.1389G>T (p.M463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001306G>T" "" "benign" "" "0000532879" "0" "30" "7" "91630628" "91630628" "subst" "4.88818E-5" "02330" "AKAP9_000197" "g.91630628G>A" "" "" "" "AKAP9(NM_005751.5):c.1397G>A (p.R466Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001314G>A" "" "likely benign" "" "0000532880" "0" "10" "7" "91630629" "91630629" "subst" "4.48062E-5" "02330" "AKAP9_000198" "g.91630629G>A" "" "" "" "AKAP9(NM_005751.5):c.1398G>A (p.R466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001315G>A" "" "benign" "" "0000532881" "0" "10" "7" "91630755" "91630755" "subst" "4.08323E-6" "02330" "AKAP9_000199" "g.91630755A>G" "" "" "" "AKAP9(NM_005751.5):c.1524A>G (p.Q508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001441A>G" "" "benign" "" "0000532882" "0" "30" "7" "91630767" "91630767" "subst" "0.00149873" "02327" "AKAP9_000174" "g.91630767C>T" "" "" "" "AKAP9(NM_005751.4):c.1536C>T (p.L512=), AKAP9(NM_005751.5):c.1536C>T (p.L512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001453C>T" "" "likely benign" "" "0000532883" "0" "50" "7" "91630801" "91630801" "subst" "4.07661E-6" "02330" "AKAP9_000200" "g.91630801T>C" "" "" "" "AKAP9(NM_005751.5):c.1570T>C (p.C524R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001487T>C" "" "VUS" "" "0000532884" "0" "30" "7" "91630830" "91630830" "subst" "4.0701E-6" "02327" "AKAP9_000201" "g.91630830T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001516T>G" "" "likely benign" "" "0000532885" "0" "30" "7" "91630968" "91630968" "subst" "0.000640252" "01943" "AKAP9_000175" "g.91630968T>G" "" "" "" "AKAP9(NM_005751.4):c.1737T>G (p.S579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001654T>G" "" "likely benign" "" "0000532886" "0" "30" "7" "91631177" "91631177" "subst" "4.08243E-6" "02327" "AKAP9_000079" "g.91631177G>A" "" "" "" "AKAP9(NM_005751.5):c.1946G>A (p.R649Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001863G>A" "" "likely benign" "" "0000532888" "0" "30" "7" "91631608" "91631608" "subst" "0" "02330" "AKAP9_000203" "g.91631608A>G" "" "" "" "AKAP9(NM_005751.5):c.2377A>G (p.I793V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92002294A>G" "" "likely benign" "" "0000532889" "0" "30" "7" "91631742" "91631742" "subst" "8.28665E-6" "02327" "AKAP9_000204" "g.91631742T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92002428T>C" "" "likely benign" "" "0000532890" "0" "10" "7" "91632176" "91632176" "subst" "0.000424542" "02330" "AKAP9_000205" "g.91632176C>A" "" "" "" "AKAP9(NM_005751.5):c.2945C>A (p.S982Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92002862C>A" "" "benign" "" "0000532891" "0" "10" "7" "91632303" "91632303" "subst" "0.000118089" "02330" "AKAP9_000206" "g.91632303G>C" "" "" "" "AKAP9(NM_005751.5):c.3072G>C (p.V1024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92002989G>C" "" "benign" "" "0000532892" "0" "30" "7" "91632379" "91632379" "subst" "8.1654E-6" "02330" "AKAP9_000207" "g.91632379G>A" "" "" "" "AKAP9(NM_005751.5):c.3148G>A (p.V1050M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92003065G>A" "" "likely benign" "" "0000532893" "0" "30" "7" "91645502" "91645502" "subst" "4.08751E-6" "02326" "AKAP9_000208" "g.91645502A>G" "" "" "" "AKAP9(NM_005751.4):c.3672A>G (p.A1224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92016188A>G" "" "likely benign" "" "0000532894" "0" "30" "7" "91651582" "91651582" "subst" "0" "02326" "AKAP9_000209" "g.91651582C>T" "" "" "" "AKAP9(NM_005751.4):c.3868C>T (p.L1290F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92022268C>T" "" "likely benign" "" "0000532895" "0" "30" "7" "91652176" "91652176" "subst" "0" "02326" "AKAP9_000210" "g.91652176C>G" "" "" "" "AKAP9(NM_005751.4):c.4001C>G (p.T1334S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92022862C>G" "" "likely benign" "" "0000532896" "0" "10" "7" "91652179" "91652181" "dup" "0" "02325" "AKAP9_000097" "g.91652179_91652181dup" "" "" "" "AKAP9(NM_005751.5):c.4004_4006dupAAC (p.K1335_L1336insQ)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92022865_92022867dup" "" "benign" "" "0000532897" "0" "10" "7" "91652180" "91652181" "ins" "0" "02330" "AKAP9_000211" "g.91652180_91652181insACA" "" "" "" "AKAP9(NM_005751.5):c.4005_4006insACA (p.K1335_L1336insT)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92022866_92022867insACA" "" "benign" "" "0000532898" "0" "30" "7" "91659224" "91659224" "subst" "0.000605263" "02327" "AKAP9_000212" "g.91659224G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92029910G>A" "" "likely benign" "" "0000532899" "0" "10" "7" "91659318" "91659318" "del" "0" "02330" "AKAP9_000213" "g.91659318del" "" "" "" "AKAP9(NM_005751.5):c.4245+13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92030004del" "" "benign" "" "0000532900" "0" "30" "7" "91660873" "91660873" "subst" "5.6924E-5" "02327" "AKAP9_000214" "g.91660873G>A" "" "" "" "AKAP9(NM_005751.4):c.4293G>A (p.L1431=), AKAP9(NM_005751.5):c.4293G>A (p.(Leu1431=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92031559G>A" "" "likely benign" "" "0000532901" "0" "30" "7" "91667736" "91667736" "subst" "0.000608004" "02327" "AKAP9_000104" "g.91667736A>G" "" "" "" "AKAP9(NM_005751.4):c.4342A>G (p.I1448V), AKAP9(NM_005751.5):c.4342A>G (p.I1448V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92038422A>G" "" "likely benign" "" "0000532902" "0" "30" "7" "91667902" "91667902" "subst" "1.21986E-5" "02327" "AKAP9_000215" "g.91667902T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92038588T>C" "" "likely benign" "" "0000532903" "0" "30" "7" "91668073" "91668073" "subst" "0" "02327" "AKAP9_000216" "g.91668073T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92038759T>C" "" "likely benign" "" "0000532904" "0" "30" "7" "91669978" "91669978" "subst" "0.00631067" "02327" "AKAP9_000217" "g.91669978A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92040664A>T" "" "likely benign" "" "0000532905" "0" "10" "7" "91669981" "91669981" "subst" "0" "02327" "AKAP9_000218" "g.91669981A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92040667A>T" "" "benign" "" "0000532906" "0" "50" "7" "91670060" "91670060" "subst" "8.13021E-6" "02330" "AKAP9_000219" "g.91670060G>A" "" "" "" "AKAP9(NM_005751.5):c.4765G>A (p.D1589N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92040746G>A" "" "VUS" "" "0000532907" "0" "50" "7" "91671369" "91671369" "subst" "4.47307E-5" "02327" "AKAP9_000220" "g.91671369A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92042055A>C" "" "VUS" "" "0000532908" "0" "30" "7" "91671477" "91671477" "subst" "4.47216E-5" "02330" "AKAP9_000221" "g.91671477C>T" "" "" "" "AKAP9(NM_005751.5):c.5035C>T (p.R1679C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92042163C>T" "" "likely benign" "" "0000532909" "0" "30" "7" "91671477" "91671477" "subst" "4.47216E-5" "02327" "AKAP9_000221" "g.91671477C>T" "" "" "" "AKAP9(NM_005751.5):c.5035C>T (p.R1679C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92042163C>T" "" "likely benign" "" "0000532910" "0" "30" "7" "91671481" "91671481" "subst" "4.4718E-5" "02330" "AKAP9_000222" "g.91671481A>G" "" "" "" "AKAP9(NM_005751.5):c.5039A>G (p.N1680S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92042167A>G" "" "likely benign" "" "0000532911" "0" "30" "7" "91674405" "91674405" "subst" "0.000719612" "02327" "AKAP9_000053" "g.91674405T>C" "" "" "" "AKAP9(NM_005751.4):c.5246T>C (p.I1749T), AKAP9(NM_005751.5):c.5246T>C (p.I1749T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92045091T>C" "" "likely benign" "" "0000532912" "0" "50" "7" "91682028" "91682028" "subst" "4.1215E-6" "02330" "AKAP9_000223" "g.91682028C>G" "" "" "" "AKAP9(NM_005751.5):c.5369-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92052714C>G" "" "VUS" "" "0000532913" "0" "30" "7" "91682040" "91682040" "subst" "0.000918113" "02330" "AKAP9_000224" "g.91682040T>G" "" "" "" "AKAP9(NM_005751.4):c.5369T>G (p.V1790G), AKAP9(NM_005751.5):c.5369T>G (p.V1790G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92052726T>G" "" "likely benign" "" "0000532914" "0" "50" "7" "91682040" "91682040" "subst" "0.000918113" "01943" "AKAP9_000224" "g.91682040T>G" "" "" "" "AKAP9(NM_005751.4):c.5369T>G (p.V1790G), AKAP9(NM_005751.5):c.5369T>G (p.V1790G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92052726T>G" "" "VUS" "" "0000532915" "0" "50" "7" "91682139" "91682139" "subst" "3.25227E-5" "02330" "AKAP9_000225" "g.91682139A>T" "" "" "" "AKAP9(NM_005751.5):c.5468A>T (p.Q1823L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92052825A>T" "" "VUS" "" "0000532916" "0" "30" "7" "91690582" "91690582" "subst" "6.91715E-5" "02327" "AKAP9_000112" "g.91690582T>C" "" "" "" "AKAP9(NM_005751.5):c.5610T>C (p.H1870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92061268T>C" "" "likely benign" "" "0000532917" "0" "30" "7" "91690652" "91690652" "subst" "5.69782E-5" "02327" "AKAP9_000226" "g.91690652A>G" "" "" "" "AKAP9(NM_005751.5):c.5680A>G (p.K1894E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92061338A>G" "" "likely benign" "" "0000532918" "0" "30" "7" "91691724" "91691724" "subst" "0.000191413" "02327" "AKAP9_000227" "g.91691724G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92062410G>A" "" "likely benign" "" "0000532920" "0" "50" "7" "91694571" "91694571" "subst" "0" "02327" "AKAP9_000228" "g.91694571A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92065257A>G" "" "VUS" "" "0000532921" "0" "30" "7" "91694604" "91694604" "subst" "0.00109587" "02327" "AKAP9_000116" "g.91694604G>A" "" "" "" "AKAP9(NM_005751.4):c.6037G>A (p.E2013K), AKAP9(NM_005751.5):c.6037G>A (p.E2013K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92065290G>A" "" "likely benign" "" "0000532922" "0" "30" "7" "91694604" "91694604" "subst" "0.00109587" "02326" "AKAP9_000116" "g.91694604G>A" "" "" "" "AKAP9(NM_005751.4):c.6037G>A (p.E2013K), AKAP9(NM_005751.5):c.6037G>A (p.E2013K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92065290G>A" "" "likely benign" "" "0000532923" "0" "50" "7" "91694632" "91694632" "subst" "4.07153E-6" "02327" "AKAP9_000229" "g.91694632A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92065318A>G" "" "VUS" "" "0000532924" "0" "30" "7" "91694743" "91694743" "subst" "0.000572972" "02330" "AKAP9_000230" "g.91694743A>G" "" "" "" "AKAP9(NM_005751.4):c.6176A>G (p.E2059G), AKAP9(NM_005751.5):c.6176A>G (p.E2059G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92065429A>G" "" "likely benign" "" "0000532925" "0" "30" "7" "91694743" "91694743" "subst" "0.000572972" "02326" "AKAP9_000230" "g.91694743A>G" "" "" "" "AKAP9(NM_005751.4):c.6176A>G (p.E2059G), AKAP9(NM_005751.5):c.6176A>G (p.E2059G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92065429A>G" "" "likely benign" "" "0000532926" "0" "10" "7" "91695779" "91695779" "subst" "0.000981454" "02326" "AKAP9_000181" "g.91695779C>T" "" "" "" "AKAP9(NM_005751.4):c.6249C>T (p.F2083=), AKAP9(NM_005751.5):c.6249C>T (p.F2083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92066465C>T" "" "benign" "" "0000532927" "0" "30" "7" "91700199" "91700199" "subst" "0.00117316" "02327" "AKAP9_000117" "g.91700199A>T" "" "" "" "AKAP9(NM_005751.5):c.6508-20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92070885A>T" "" "likely benign" "" "0000532928" "0" "30" "7" "91707104" "91707104" "subst" "0" "02326" "AKAP9_000231" "g.91707104T>A" "" "" "" "AKAP9(NM_005751.4):c.6860T>A (p.I2287K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92077790T>A" "" "likely benign" "" "0000532929" "0" "30" "7" "91707140" "91707140" "subst" "0.000118109" "02327" "AKAP9_000232" "g.91707140A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92077826A>G" "" "likely benign" "" "0000532930" "0" "30" "7" "91707164" "91707164" "subst" "0" "02327" "AKAP9_000233" "g.91707164A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92077850A>G" "" "likely benign" "" "0000532931" "0" "10" "7" "91707165" "91707165" "subst" "0.00193623" "02330" "AKAP9_000234" "g.91707165A>G" "" "" "" "AKAP9(NM_005751.5):c.6921A>G (p.Q2307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92077851A>G" "" "benign" "" "0000532932" "0" "10" "7" "91707197" "91707197" "subst" "0.374004" "02327" "AKAP9_000124" "g.91707197C>T" "" "" "" "AKAP9(NM_005751.5):c.6945+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92077883C>T" "" "benign" "" "0000532933" "0" "30" "7" "91708470" "91708470" "subst" "4.06788E-6" "02327" "AKAP9_000125" "g.91708470G>A" "" "" "" "AKAP9(NM_005751.5):c.7023G>A (p.V2341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92079156G>A" "" "likely benign" "" "0000532934" "0" "30" "7" "91708637" "91708637" "subst" "5.30175E-5" "02327" "AKAP9_000127" "g.91708637C>G" "" "" "" "AKAP9(NM_005751.5):c.7190C>G (p.A2397G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92079323C>G" "" "likely benign" "" "0000532935" "0" "10" "7" "91708722" "91708722" "subst" "0.00299272" "02327" "AKAP9_000128" "g.91708722G>A" "" "" "" "AKAP9(NM_005751.4):c.7275G>A (p.Q2425=), AKAP9(NM_005751.5):c.7275G>A (p.Q2425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92079408G>A" "" "benign" "" "0000532936" "0" "10" "7" "91708722" "91708722" "subst" "0.00299272" "02326" "AKAP9_000128" "g.91708722G>A" "" "" "" "AKAP9(NM_005751.4):c.7275G>A (p.Q2425=), AKAP9(NM_005751.5):c.7275G>A (p.Q2425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92079408G>A" "" "benign" "" "0000532937" "0" "30" "7" "91708935" "91708935" "subst" "0.000317882" "01804" "AKAP9_000132" "g.91708935T>G" "" "" "" "AKAP9(NM_005751.4):c.7488T>G (p.(Asn2496Lys)), AKAP9(NM_005751.5):c.7488T>G (p.N2496K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92079621T>G" "" "likely benign" "" "0000532938" "0" "50" "7" "91709085" "91709085" "subst" "0.000589934" "02327" "AKAP9_000235" "g.91709085A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92079771A>G" "" "VUS" "" "0000532939" "0" "50" "7" "91712599" "91712599" "subst" "0" "02330" "AKAP9_000236" "g.91712599A>G" "" "" "" "AKAP9(NM_005751.5):c.8276A>G (p.Q2759R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92083285A>G" "" "VUS" "" "0000532940" "0" "30" "7" "91712609" "91712609" "subst" "0.0010016" "02327" "AKAP9_000139" "g.91712609A>C" "" "" "" "AKAP9(NM_005751.4):c.8286A>C (p.K2762N), AKAP9(NM_005751.5):c.8286A>C (p.K2762N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92083295A>C" "" "likely benign" "" "0000532941" "0" "10" "7" "91712698" "91712698" "subst" "0.359344" "02330" "AKAP9_000237" "g.91712698A>G" "" "" "" "AKAP9(NM_005751.5):c.8375A>G (p.N2792S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92083384A>G" "" "benign" "" "0000532942" "0" "10" "7" "91712698" "91712698" "subst" "0.359344" "02325" "AKAP9_000237" "g.91712698A>G" "" "" "" "AKAP9(NM_005751.5):c.8375A>G (p.N2792S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92083384A>G" "" "benign" "" "0000532943" "0" "10" "7" "91712933" "91712933" "subst" "1.24616E-5" "02330" "AKAP9_000238" "g.91712933C>T" "" "" "" "AKAP9(NM_005751.5):c.8610C>T (p.T2870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92083619C>T" "" "benign" "" "0000532944" "0" "10" "7" "91713016" "91713016" "del" "0" "02327" "AKAP9_000239" "g.91713016del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92083702del" "" "benign" "" "0000532945" "0" "30" "7" "91713963" "91713963" "subst" "0.000179175" "02327" "AKAP9_000051" "g.91713963A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92084649A>G" "" "likely benign" "" "0000532946" "0" "30" "7" "91714172" "91714172" "subst" "8.13127E-6" "02327" "AKAP9_000240" "g.91714172A>G" "" "" "" "AKAP9(NM_005751.4):c.8750A>G (p.H2917R), AKAP9(NM_005751.5):c.8750A>G (p.H2917R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92084858A>G" "" "likely benign" "" "0000532947" "0" "50" "7" "91714185" "91714185" "subst" "0" "02327" "AKAP9_000241" "g.91714185T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92084871T>C" "" "VUS" "" "0000532948" "0" "50" "7" "91714240" "91714240" "subst" "0" "02326" "AKAP9_000242" "g.91714240C>T" "" "" "" "AKAP9(NM_005751.4):c.8818C>T (p.P2940S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92084926C>T" "" "VUS" "" "0000532949" "0" "30" "7" "91715006" "91715006" "subst" "0" "02327" "AKAP9_000243" "g.91715006C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92085692C>A" "" "likely benign" "" "0000532950" "0" "30" "7" "91715549" "91715549" "subst" "0.000117843" "02327" "AKAP9_000244" "g.91715549A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92086235A>G" "" "likely benign" "" "0000532951" "0" "50" "7" "91715570" "91715570" "subst" "8.12493E-6" "02330" "AKAP9_000245" "g.91715570G>A" "" "" "" "AKAP9(NM_005751.5):c.9053G>A (p.S3018N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92086256G>A" "" "VUS" "" "0000532952" "0" "50" "7" "91722399" "91722399" "subst" "4.0823E-6" "02330" "AKAP9_000246" "g.91722399T>A" "" "" "" "AKAP9(NM_005751.5):c.9359-12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92093085T>A" "" "VUS" "" "0000532953" "0" "30" "7" "91724360" "91724360" "subst" "0" "02327" "AKAP9_000247" "g.91724360A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92095046A>T" "" "likely benign" "" "0000532954" "0" "10" "7" "91724406" "91724406" "subst" "0.00067023" "02326" "AKAP9_000248" "g.91724406A>G" "" "" "" "AKAP9(NM_005751.4):c.9648A>G (p.K3216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92095092A>G" "" "benign" "" "0000532955" "0" "30" "7" "91726391" "91726391" "subst" "0.00138994" "01943" "AKAP9_000055" "g.91726391C>A" "" "" "" "AKAP9(NM_005751.4):c.10118C>A (p.S3373Y, p.(Ser3373Tyr)), AKAP9(NM_005751.5):c.10118C>A (p.S3373Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92097077C>A" "" "likely benign" "" "0000532956" "0" "10" "7" "91726470" "91726470" "subst" "0.00129996" "02327" "AKAP9_000153" "g.91726470T>C" "" "" "" "AKAP9(NM_005751.5):c.10197T>C (p.T3399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92097156T>C" "" "benign" "" "0000532957" "0" "50" "7" "91726502" "91726502" "subst" "0" "02330" "AKAP9_000249" "g.91726502C>T" "" "" "" "AKAP9(NM_005751.5):c.10229C>T (p.S3410F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92097188C>T" "" "VUS" "" "0000532959" "0" "30" "7" "91726527" "91726527" "subst" "0.00071301" "02326" "AKAP9_000154" "g.91726527G>C" "" "" "" "AKAP9(NM_005751.4):c.10254G>C (p.Q3418H), AKAP9(NM_005751.5):c.10254G>C (p.Q3418H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92097213G>C" "" "likely benign" "" "0000532960" "0" "30" "7" "91726960" "91726960" "subst" "0.000589148" "02327" "AKAP9_000157" "g.91726960G>A" "" "" "" "AKAP9(NM_005751.5):c.10459G>A (p.E3487K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92097646G>A" "" "likely benign" "" "0000532961" "0" "30" "7" "91727479" "91727479" "subst" "0.000927697" "02330" "AKAP9_000058" "g.91727479A>T" "" "" "" "AKAP9(NM_005751.4):c.10664A>T (p.D3555V), AKAP9(NM_005751.5):c.10664A>T (p.D3555V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92098165A>T" "" "likely benign" "" "0000532963" "0" "30" "7" "91727479" "91727479" "subst" "0.000927697" "02326" "AKAP9_000058" "g.91727479A>T" "" "" "" "AKAP9(NM_005751.4):c.10664A>T (p.D3555V), AKAP9(NM_005751.5):c.10664A>T (p.D3555V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92098165A>T" "" "likely benign" "" "0000532964" "0" "30" "7" "91727487" "91727487" "subst" "0.000756965" "02327" "AKAP9_000160" "g.91727487A>G" "" "" "" "AKAP9(NM_005751.5):c.10672A>G (p.I3558V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92098173A>G" "" "likely benign" "" "0000532965" "0" "30" "7" "91729054" "91729054" "subst" "0.00110101" "02327" "AKAP9_000161" "g.91729054G>A" "" "" "" "AKAP9(NM_005751.4):c.10767G>A (p.L3589=), AKAP9(NM_005751.5):c.10767G>A (p.L3589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92099740G>A" "" "likely benign" "" "0000532966" "0" "10" "7" "91729145" "91729145" "subst" "0.000702943" "02330" "AKAP9_000250" "g.91729145A>G" "" "" "" "AKAP9(NM_005751.5):c.10858A>G (p.I3620V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92099831A>G" "" "benign" "" "0000532967" "0" "50" "7" "91730283" "91730283" "subst" "4.0619E-6" "02330" "AKAP9_000251" "g.91730283G>C" "" "" "" "AKAP9(NM_005751.5):c.11010G>C (p.E3670D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92100969G>C" "" "VUS" "" "0000532968" "0" "10" "7" "91731895" "91731895" "subst" "0.000537293" "02330" "AKAP9_000252" "g.91731895T>G" "" "" "" "AKAP9(NM_005751.5):c.11098-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92102581T>G" "" "benign" "" "0000532969" "0" "50" "7" "91731999" "91731999" "subst" "0" "02330" "AKAP9_000253" "g.91731999A>G" "" "" "" "AKAP9(NM_005751.5):c.11189A>G (p.Q3730R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92102685A>G" "" "VUS" "" "0000532970" "0" "50" "7" "91732039" "91732039" "subst" "4.4698E-5" "02330" "AKAP9_000254" "g.91732039G>C" "" "" "" "AKAP9(NM_005751.5):c.11229G>C (p.M3743I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92102725G>C" "" "VUS" "" "0000532971" "0" "30" "7" "91732039" "91732039" "subst" "0.000215363" "02327" "AKAP9_000255" "g.91732039G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92102725G>T" "" "likely benign" "" "0000532972" "0" "10" "7" "91732083" "91732083" "subst" "0.00169052" "02327" "AKAP9_000167" "g.91732083G>A" "" "" "" "AKAP9(NM_005751.4):c.11273G>A (p.R3758H), AKAP9(NM_005751.5):c.11273G>A (p.R3758H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92102769G>A" "" "benign" "" "0000532973" "0" "30" "7" "91732101" "91732101" "subst" "3.65851E-5" "02327" "AKAP9_000256" "g.91732101G>A" "" "" "" "AKAP9(NM_005751.4):c.11291G>A (p.R3764K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92102787G>A" "" "likely benign" "" "0000532974" "0" "50" "7" "91736709" "91736709" "subst" "0.00014219" "02330" "AKAP9_000257" "g.91736709T>C" "" "" "" "AKAP9(NM_005751.4):c.11519T>C (p.I3840T), AKAP9(NM_005751.5):c.11519T>C (p.I3840T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92107395T>C" "" "VUS" "" "0000532975" "0" "30" "7" "91736709" "91736709" "subst" "0.00014219" "02326" "AKAP9_000257" "g.91736709T>C" "" "" "" "AKAP9(NM_005751.4):c.11519T>C (p.I3840T), AKAP9(NM_005751.5):c.11519T>C (p.I3840T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92107395T>C" "" "likely benign" "" "0000611244" "0" "30" "7" "91570480" "91570480" "subst" "0" "02327" "AKAP9_000258" "g.91570480A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91941166A>G" "" "likely benign" "" "0000611245" "0" "50" "7" "91603112" "91603112" "subst" "0" "02325" "AKAP9_000259" "g.91603112A>G" "" "" "" "AKAP9(NM_005751.5):c.136A>G (p.K46E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91973798A>G" "" "VUS" "" "0000611246" "0" "30" "7" "91603134" "91603134" "subst" "0.000105658" "02330" "AKAP9_000260" "g.91603134A>G" "" "" "" "AKAP9(NM_005751.5):c.158A>G (p.H53R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91973820A>G" "" "likely benign" "" "0000611247" "0" "30" "7" "91609596" "91609596" "subst" "0" "02327" "AKAP9_000261" "g.91609596G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91980282G>T" "" "likely benign" "" "0000611248" "0" "30" "7" "91624937" "91624937" "subst" "0" "02327" "AKAP9_000264" "g.91624937G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91995623G>A" "" "likely benign" "" "0000611249" "0" "50" "7" "91630665" "91630665" "subst" "0" "02327" "AKAP9_000265" "g.91630665T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001351T>C" "" "VUS" "" "0000611250" "0" "30" "7" "91631121" "91631121" "subst" "4.07252E-5" "02327" "AKAP9_000266" "g.91631121A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92001807A>G" "" "likely benign" "" "0000611251" "0" "50" "7" "91631344" "91631344" "subst" "1.25448E-5" "02327" "AKAP9_000267" "g.91631344T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92002030T>G" "" "VUS" "" "0000611252" "0" "30" "7" "91631542" "91631542" "subst" "0.000106553" "02327" "AKAP9_000268" "g.91631542G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92002228G>A" "" "likely benign" "" "0000611253" "0" "30" "7" "91631785" "91631785" "subst" "1.24279E-5" "02327" "AKAP9_000081" "g.91631785T>C" "" "" "" "AKAP9(NM_005751.5):c.2554T>C (p.F852L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92002471T>C" "" "likely benign" "" "0000611254" "0" "30" "7" "91631790" "91631790" "subst" "3.32071E-5" "02327" "AKAP9_000270" "g.91631790T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92002476T>C" "" "likely benign" "" "0000611255" "0" "30" "7" "91632023" "91632023" "subst" "0" "02327" "AKAP9_000271" "g.91632023G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92002709G>A" "" "likely benign" "" "0000611256" "0" "30" "7" "91632297" "91632297" "subst" "4.88691E-5" "02327" "AKAP9_000087" "g.91632297A>G" "" "" "" "AKAP9(NM_005751.5):c.3066A>G (p.G1022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92002983A>G" "" "likely benign" "" "0000611257" "0" "30" "7" "91632454" "91632454" "subst" "0.000736038" "01943" "AKAP9_000089" "g.91632454T>C" "" "" "" "AKAP9(NM_005751.4):c.3223T>C (p.L1075=), AKAP9(NM_005751.5):c.3223T>C (p.L1075=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92003140T>C" "" "likely benign" "" "0000611258" "0" "30" "7" "91632454" "91632454" "subst" "0.000736038" "02327" "AKAP9_000089" "g.91632454T>C" "" "" "" "AKAP9(NM_005751.4):c.3223T>C (p.L1075=), AKAP9(NM_005751.5):c.3223T>C (p.L1075=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92003140T>C" "" "likely benign" "" "0000611259" "0" "30" "7" "91643610" "91643610" "subst" "0.00060575" "02327" "AKAP9_000057" "g.91643610G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92014296G>A" "" "likely benign" "" "0000611260" "0" "30" "7" "91645455" "91645455" "subst" "0" "02327" "AKAP9_000272" "g.91645455G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92016141G>A" "" "likely benign" "" "0000611261" "0" "10" "7" "91646406" "91646406" "subst" "0.00924742" "02327" "AKAP9_000054" "g.91646406G>A" "" "" "" "AKAP9(NM_005751.5):c.3827G>A (p.R1276Q, p.(Arg1276Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92017092G>A" "" "benign" "" "0000611262" "0" "30" "7" "91670095" "91670095" "subst" "4.06415E-5" "02327" "AKAP9_000273" "g.91670095A>G" "" "" "" "AKAP9(NM_005751.5):c.4800A>G (p.E1600=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92040781A>G" "" "likely benign" "" "0000611263" "0" "50" "7" "91670135" "91670135" "subst" "3.65735E-5" "02330" "AKAP9_000274" "g.91670135C>T" "" "" "" "AKAP9(NM_005751.5):c.4840C>T (p.R1614W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92040821C>T" "" "VUS" "" "0000611264" "0" "50" "7" "91670142" "91670157" "del" "0" "02327" "AKAP9_000275" "g.91670142_91670157del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92040828_92040843del" "" "VUS" "" "0000611265" "0" "50" "7" "91670142" "91670168" "delins" "0" "02327" "AKAP9_000276" "g.91670142_91670168delinsAGA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92040828_92040854delinsAGA" "" "VUS" "" "0000611266" "0" "50" "7" "91670161" "91670168" "del" "0" "02327" "AKAP9_000277" "g.91670161_91670168del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92040847_92040854del" "" "VUS" "" "0000611267" "0" "30" "7" "91682236" "91682236" "subst" "2.85293E-5" "02327" "AKAP9_000111" "g.91682236A>G" "" "" "" "AKAP9(NM_005751.4):c.5565A>G (p.E1855=), AKAP9(NM_005751.5):c.5565A>G (p.E1855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92052922A>G" "" "likely benign" "" "0000611268" "0" "50" "7" "91690611" "91690611" "subst" "2.442E-5" "01804" "AKAP9_000281" "g.91690611G>A" "" "" "" "AKAP9(NM_005751.4):c.5639G>A (p.(Arg1880His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92061297G>A" "" "VUS" "" "0000611269" "0" "30" "7" "91690652" "91690652" "subst" "5.69782E-5" "02330" "AKAP9_000226" "g.91690652A>G" "" "" "" "AKAP9(NM_005751.5):c.5680A>G (p.K1894E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92061338A>G" "" "likely benign" "" "0000611270" "0" "30" "7" "91691568" "91691568" "subst" "5.30721E-5" "02327" "AKAP9_000282" "g.91691568C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92062254C>G" "" "likely benign" "" "0000611271" "0" "30" "7" "91691751" "91691751" "subst" "5.29739E-5" "02327" "AKAP9_000283" "g.91691751G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92062437G>A" "" "likely benign" "" "0000611272" "0" "10" "7" "91694541" "91694541" "subst" "0.00189468" "02327" "AKAP9_000179" "g.91694541A>G" "" "" "" "AKAP9(NM_005751.4):c.5978-4A>G, AKAP9(NM_005751.5):c.5978-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92065227A>G" "" "benign" "" "0000611273" "0" "30" "7" "91694738" "91694738" "subst" "0" "02327" "AKAP9_000285" "g.91694738A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92065424A>T" "" "likely benign" "" "0000611274" "0" "50" "7" "91694755" "91694755" "subst" "8.20883E-6" "02330" "AKAP9_000286" "g.91694755A>G" "" "" "" "AKAP9(NM_005751.5):c.6188A>G (p.E2063G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92065441A>G" "" "VUS" "" "0000611275" "0" "10" "7" "91695726" "91695726" "subst" "0" "02330" "AKAP9_000287" "g.91695726G>A" "" "" "" "AKAP9(NM_005751.5):c.6211-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92066412G>A" "" "benign" "" "0000611276" "0" "10" "7" "91695779" "91695779" "subst" "0.000981454" "02327" "AKAP9_000181" "g.91695779C>T" "" "" "" "AKAP9(NM_005751.4):c.6249C>T (p.F2083=), AKAP9(NM_005751.5):c.6249C>T (p.F2083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92066465C>T" "" "benign" "" "0000611277" "0" "10" "7" "91700267" "91700267" "subst" "0.0033547" "02327" "AKAP9_000119" "g.91700267T>C" "" "" "" "AKAP9(NM_005751.4):c.6556T>C (p.S2186P), AKAP9(NM_005751.5):c.6556T>C (p.S2186P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92070953T>C" "" "benign" "" "0000611278" "0" "30" "7" "91708651" "91708651" "subst" "0" "02327" "AKAP9_000288" "g.91708651G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92079337G>A" "" "likely benign" "" "0000611279" "0" "30" "7" "91708951" "91708951" "subst" "4.07193E-6" "02327" "AKAP9_000289" "g.91708951C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92079637C>T" "" "likely benign" "" "0000611280" "0" "50" "7" "91709378" "91709378" "subst" "4.93632E-6" "02327" "AKAP9_000290" "g.91709378T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92080064T>C" "" "VUS" "" "0000611281" "0" "30" "7" "91712989" "91712989" "subst" "1.26454E-5" "02327" "AKAP9_000291" "g.91712989T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92083675T>C" "" "likely benign" "" "0000611282" "0" "30" "7" "91715589" "91715589" "subst" "1.62495E-5" "02327" "AKAP9_000292" "g.91715589T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92086275T>G" "" "likely benign" "" "0000611283" "0" "10" "7" "91715609" "91715609" "subst" "0.00129993" "02327" "AKAP9_000148" "g.91715609A>G" "" "" "" "AKAP9(NM_005751.5):c.9092A>G (p.Q3031R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92086295A>G" "" "benign" "" "0000611284" "0" "30" "7" "91718715" "91718715" "subst" "0" "02327" "AKAP9_000293" "g.91718715C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92089401C>T" "" "likely benign" "" "0000611285" "0" "50" "7" "91722588" "91722588" "subst" "0" "02330" "AKAP9_000294" "g.91722588T>A" "" "" "" "AKAP9(NM_005751.5):c.9536T>A (p.L3179H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92093274T>A" "" "VUS" "" "0000611287" "0" "30" "7" "91722589" "91722589" "subst" "2.0396E-5" "02327" "AKAP9_000295" "g.91722589C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92093275C>G" "" "likely benign" "" "0000611288" "0" "30" "7" "91724447" "91724447" "subst" "0.000231506" "02327" "AKAP9_000296" "g.91724447A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92095133A>G" "" "likely benign" "" "0000611289" "0" "50" "7" "91726500" "91726500" "subst" "0" "02327" "AKAP9_000297" "g.91726500G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92097186G>A" "" "VUS" "" "0000611290" "0" "50" "7" "91726523" "91726523" "subst" "8.18692E-6" "02325" "AKAP9_000298" "g.91726523G>A" "" "" "" "AKAP9(NM_005751.5):c.10250G>A (p.R3417H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92097209G>A" "" "VUS" "" "0000611291" "0" "50" "7" "91726900" "91726900" "subst" "4.06306E-6" "02325" "AKAP9_000299" "g.91726900C>A" "" "" "" "AKAP9(NM_005751.5):c.10399C>A (p.P3467T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92097586C>A" "" "VUS" "" "0000611292" "0" "30" "7" "91732039" "91732039" "subst" "5.68884E-5" "02327" "AKAP9_000301" "g.91732039G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92102725G>A" "" "likely benign" "" "0000621935" "0" "50" "7" "91622245" "91622245" "subst" "0" "02330" "AKAP9_000262" "g.91622245A>C" "" "" "" "AKAP9(NM_005751.5):c.452A>C (p.Q151P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91992931A>C" "" "VUS" "" "0000621936" "0" "10" "7" "91624105" "91624105" "subst" "0" "02330" "AKAP9_000263" "g.91624105T>C" "" "" "" "AKAP9(NM_005751.5):c.732+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91994791T>C" "" "benign" "" "0000621937" "0" "30" "7" "91631656" "91631656" "subst" "0.000598403" "02330" "AKAP9_000269" "g.91631656A>G" "" "" "" "AKAP9(NM_005751.5):c.2425A>G (p.I809V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92002342A>G" "" "likely benign" "" "0000621938" "0" "30" "7" "91671427" "91671427" "subst" "0.000117847" "02330" "AKAP9_000278" "g.91671427C>T" "" "" "" "AKAP9(NM_005751.5):c.4985C>T (p.A1662V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92042113C>T" "" "likely benign" "" "0000621939" "0" "50" "7" "91674410" "91674410" "subst" "4.47267E-5" "02325" "AKAP9_000279" "g.91674410C>T" "" "" "" "AKAP9(NM_005751.5):c.5251C>T (p.R1751C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92045096C>T" "" "VUS" "" "0000621940" "0" "50" "7" "91682199" "91682199" "subst" "4.06818E-6" "02330" "AKAP9_000280" "g.91682199T>A" "" "" "" "AKAP9(NM_005751.4):c.5528T>A (p.M1843K), AKAP9(NM_005751.5):c.5528T>A (p.M1843K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92052885T>A" "" "VUS" "" "0000621941" "0" "50" "7" "91694614" "91694614" "subst" "8.14564E-6" "02330" "AKAP9_000284" "g.91694614G>A" "" "" "" "AKAP9(NM_005751.5):c.6047G>A (p.R2016H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92065300G>A" "" "VUS" "" "0000621942" "0" "30" "7" "91732035" "91732035" "subst" "0.000601137" "02330" "AKAP9_000300" "g.91732035G>C" "" "" "" "AKAP9(NM_005751.5):c.11225G>C (p.R3742P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92102721G>C" "" "likely benign" "" "0000652365" "1" "30" "7" "91603056" "91603056" "subst" "0.00177152" "03575" "AKAP9_000063" "g.91603056C>T" "4/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs142401936}" "Germline" "" "rs142401936" "0" "" "" "g.91973742C>T" "" "likely benign" "" "0000652366" "1" "50" "7" "91641854" "91641854" "subst" "0.000438732" "03575" "AKAP9_000093" "g.91641854T>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs141039834}" "Germline" "" "rs141039834" "0" "" "" "g.92012540T>C" "" "VUS" "" "0000652367" "1" "50" "7" "91674405" "91674405" "subst" "0.000719612" "03575" "AKAP9_000053" "g.91674405T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs150016098}" "Germline" "" "rs150016098" "0" "" "" "g.92045091T>C" "" "VUS" "" "0000652368" "1" "50" "7" "91727479" "91727479" "subst" "0.000927697" "03575" "AKAP9_000058" "g.91727479A>T" "1/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs139046510}" "Germline" "" "rs139046510" "0" "" "" "g.92098165A>T" "" "VUS" "" "0000652369" "1" "30" "7" "91729127" "91729127" "subst" "0.00700437" "03575" "AKAP9_000162" "g.91729127A>G" "12/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs34327395}" "Germline" "" "rs34327395" "0" "" "" "g.92099813A>G" "" "likely benign" "" "0000652370" "1" "30" "7" "91731945" "91731945" "subst" "0.000645832" "03575" "AKAP9_000302" "g.91731945G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs186148498}" "Germline" "" "rs186148498" "0" "" "" "g.92102631G>A" "" "likely benign" "" "0000653181" "1" "50" "7" "91732039" "91732039" "subst" "0.000215363" "03575" "AKAP9_000255" "g.91732039G>T" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs143306820}" "Germline" "" "rs143306820" "0" "" "" "g.92102725G>T" "" "VUS" "" "0000655900" "0" "30" "7" "91622303" "91622303" "subst" "0.0018894" "01943" "AKAP9_000068" "g.91622303G>C" "" "" "" "AKAP9(NM_005751.4):c.510G>C (p.E170D), AKAP9(NM_005751.5):c.510G>C (p.E170D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91992989G>C" "" "likely benign" "" "0000655901" "0" "10" "7" "91652113" "91652113" "subst" "8.08387E-5" "02330" "AKAP9_000303" "g.91652113C>T" "" "" "" "AKAP9(NM_005751.5):c.3953-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92022799C>T" "" "benign" "" "0000655902" "0" "50" "7" "91708543" "91708543" "subst" "2.44093E-5" "01943" "AKAP9_000304" "g.91708543A>G" "" "" "" "AKAP9(NM_005751.4):c.7096A>G (p.I2366V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92079229A>G" "" "VUS" "" "0000655903" "0" "30" "7" "91727479" "91727479" "subst" "0.000927697" "01943" "AKAP9_000058" "g.91727479A>T" "" "" "" "AKAP9(NM_005751.4):c.10664A>T (p.D3555V), AKAP9(NM_005751.5):c.10664A>T (p.D3555V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92098165A>T" "" "likely benign" "" "0000660250" "0" "50" "7" "91732041" "91732041" "subst" "4.06177E-6" "01164" "AKAP9_000305" "g.91732041G>A" "" "" "" "" "" "Germline" "" "rs148318643" "0" "" "" "g.92102727G>A" "" "VUS" "" "0000678193" "0" "30" "7" "91622234" "91622234" "subst" "2.43815E-5" "02327" "AKAP9_000306" "g.91622234A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678194" "0" "30" "7" "91630154" "91630154" "dup" "0" "02327" "AKAP9_000307" "g.91630154dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678195" "0" "50" "7" "91630688" "91630688" "subst" "1.22172E-5" "02327" "AKAP9_000308" "g.91630688A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678196" "0" "50" "7" "91630882" "91630882" "subst" "0.00021963" "01943" "AKAP9_000309" "g.91630882A>G" "" "" "" "AKAP9(NM_005751.4):c.1651A>G (p.I551V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678197" "0" "30" "7" "91631820" "91631820" "subst" "0.000277513" "02327" "AKAP9_000310" "g.91631820G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678198" "0" "30" "7" "91632302" "91632302" "subst" "1.62868E-5" "02327" "AKAP9_000311" "g.91632302T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678199" "0" "50" "7" "91659208" "91659208" "subst" "0" "02327" "AKAP9_000312" "g.91659208G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678200" "0" "10" "7" "91660820" "91660820" "subst" "0.000333542" "02327" "AKAP9_000103" "g.91660820A>T" "" "" "" "AKAP9(NM_005751.5):c.4246-6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678201" "0" "30" "7" "91668023" "91668023" "subst" "0" "02327" "AKAP9_000313" "g.91668023C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678202" "0" "50" "7" "91670121" "91670121" "subst" "0.00053239" "01943" "AKAP9_000106" "g.91670121G>A" "" "" "" "AKAP9(NM_005751.4):c.4826G>A (p.R1609K), AKAP9(NM_005751.5):c.4826G>A (p.R1609K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678203" "0" "50" "7" "91671379" "91671379" "subst" "0" "01943" "AKAP9_000314" "g.91671379A>G" "" "" "" "AKAP9(NM_005751.4):c.4937A>G (p.E1646G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678204" "0" "30" "7" "91695779" "91695779" "subst" "0.000981454" "01943" "AKAP9_000181" "g.91695779C>T" "" "" "" "AKAP9(NM_005751.4):c.6249C>T (p.F2083=), AKAP9(NM_005751.5):c.6249C>T (p.F2083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678205" "0" "30" "7" "91700244" "91700244" "subst" "0.000105596" "01804" "AKAP9_000315" "g.91700244C>T" "" "" "" "AKAP9(NM_005751.4):c.6533C>T (p.(Ala2178Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678206" "0" "30" "7" "91708761" "91708761" "subst" "7.73081E-5" "02327" "AKAP9_000129" "g.91708761A>T" "" "" "" "AKAP9(NM_005751.4):c.7314A>T (p.(Glu2438Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678207" "0" "50" "7" "91714172" "91714172" "subst" "8.13127E-6" "02326" "AKAP9_000240" "g.91714172A>G" "" "" "" "AKAP9(NM_005751.4):c.8750A>G (p.H2917R), AKAP9(NM_005751.5):c.8750A>G (p.H2917R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678208" "0" "30" "7" "91714206" "91714206" "subst" "0" "02326" "AKAP9_000316" "g.91714206A>C" "" "" "" "AKAP9(NM_005751.4):c.8784A>C (p.R2928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678209" "0" "30" "7" "91726242" "91726242" "subst" "2.03158E-5" "02326" "AKAP9_000317" "g.91726242C>T" "" "" "" "AKAP9(NM_005751.4):c.9969C>T (p.H3323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678210" "0" "30" "7" "91726391" "91726391" "subst" "0.00138994" "01804" "AKAP9_000055" "g.91726391C>A" "" "" "" "AKAP9(NM_005751.4):c.10118C>A (p.S3373Y, p.(Ser3373Tyr)), AKAP9(NM_005751.5):c.10118C>A (p.S3373Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678211" "0" "30" "7" "91726446" "91726446" "subst" "0" "01943" "AKAP9_000318" "g.91726446G>A" "" "" "" "AKAP9(NM_005751.4):c.10173G>A (p.L3391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690090" "0" "10" "7" "91630603" "91630603" "subst" "0.000526204" "02330" "AKAP9_000196" "g.91630603G>C" "" "" "" "AKAP9(NM_005751.4):c.1372G>C (p.A458P), AKAP9(NM_005751.5):c.1372G>C (p.A458P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690091" "0" "50" "7" "91714980" "91714980" "subst" "8.1648E-6" "02326" "AKAP9_000319" "g.91714980C>G" "" "" "" "AKAP9(NM_005751.4):c.9004C>G (p.Q3002E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000714882" "0" "50" "7" "91708543" "91708543" "subst" "2.44093E-5" "01164" "AKAP9_000304" "g.91708543A>G" "" "" "" "" "ACMG: PM2, BP4: class 3" "Germline" "?" "rs368823780" "0" "" "" "" "" "VUS" "ACMG" "0000721581" "0" "30" "7" "91630330" "91630330" "subst" "0.0003436" "02330" "AKAP9_000193" "g.91630330G>A" "" "" "" "AKAP9(NM_005751.5):c.1099G>A (p.V367M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721582" "0" "10" "7" "91630767" "91630767" "subst" "0.00149873" "02326" "AKAP9_000174" "g.91630767C>T" "" "" "" "AKAP9(NM_005751.4):c.1536C>T (p.L512=), AKAP9(NM_005751.5):c.1536C>T (p.L512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721583" "0" "10" "7" "91631706" "91631706" "subst" "6.9798E-5" "02330" "AKAP9_000320" "g.91631706T>G" "" "" "" "AKAP9(NM_005751.5):c.2475T>G (p.L825=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721584" "0" "50" "7" "91631743" "91631743" "subst" "0" "02330" "AKAP9_000321" "g.91631743C>G" "" "" "" "AKAP9(NM_005751.5):c.2512C>G (p.Q838E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721585" "0" "10" "7" "91632096" "91632096" "subst" "4.07272E-6" "02330" "AKAP9_000322" "g.91632096G>A" "" "" "" "AKAP9(NM_005751.5):c.2865G>A (p.L955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721586" "0" "50" "7" "91682037" "91682037" "subst" "0.000155314" "01943" "AKAP9_000110" "g.91682037T>C" "" "" "" "AKAP9(NM_005751.4):c.5369-3T>C, AKAP9(NM_005751.5):c.5369-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721587" "0" "50" "7" "91722584" "91722584" "subst" "0" "02330" "AKAP9_000323" "g.91722584A>G" "" "" "" "AKAP9(NM_005751.5):c.9532A>G (p.T3178A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803273" "0" "30" "7" "91630916" "91630916" "subst" "0.000105756" "02330" "AKAP9_000324" "g.91630916A>G" "" "" "" "AKAP9(NM_005751.5):c.1685A>G (p.H562R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803274" "0" "10" "7" "91631289" "91631289" "subst" "8.24382E-6" "02330" "AKAP9_000325" "g.91631289C>T" "" "" "" "AKAP9(NM_005751.5):c.2058C>T (p.D686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803275" "0" "30" "7" "91709235" "91709235" "subst" "8.13359E-6" "02326" "AKAP9_000136" "g.91709235G>A" "" "" "" "AKAP9(NM_005751.4):c.7788G>A (p.E2596=), AKAP9(NM_005751.5):c.7788G>A (p.E2596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803276" "0" "30" "7" "91714169" "91714169" "subst" "0.000109788" "02325" "AKAP9_000062" "g.91714169C>A" "" "" "" "AKAP9(NM_005751.5):c.8747C>A (p.T2916K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803277" "0" "30" "7" "91718854" "91718854" "subst" "0.00121803" "02326" "AKAP9_000151" "g.91718854T>C" "" "" "" "AKAP9(NM_005751.4):c.9358+11T>C, AKAP9(NM_005751.5):c.9358+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803278" "0" "50" "7" "91737906" "91737906" "subst" "4.06164E-6" "02330" "AKAP9_000326" "g.91737906G>A" "" "" "" "AKAP9(NM_005751.5):c.11645G>A (p.R3882Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803279" "0" "50" "7" "91737943" "91737943" "subst" "8.12262E-6" "02330" "AKAP9_000327" "g.91737943G>T" "" "" "" "AKAP9(NM_005751.5):c.11682G>T (p.Q3894H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851684" "0" "10" "7" "91603030" "91603030" "subst" "2.03927E-5" "02330" "AKAP9_000187" "g.91603030C>A" "" "" "" "AKAP9(NM_005751.5):c.54C>A (p.A18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851685" "0" "30" "7" "91630628" "91630628" "subst" "4.88818E-5" "02327" "AKAP9_000197" "g.91630628G>A" "" "" "" "AKAP9(NM_005751.5):c.1397G>A (p.R466Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851686" "0" "30" "7" "91643565" "91643565" "subst" "0" "02327" "AKAP9_000330" "g.91643565G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851687" "0" "30" "7" "91646382" "91646382" "subst" "0" "01943" "AKAP9_000096" "g.91646382A>G" "" "" "" "AKAP9(NM_005751.4):c.3803A>G (p.N1268S), AKAP9(NM_005751.5):c.3803A>G (p.N1268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851688" "0" "50" "7" "91660839" "91660839" "subst" "0.000451322" "01943" "AKAP9_000332" "g.91660839T>G" "" "" "" "AKAP9(NM_005751.4):c.4259T>G (p.F1420C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851689" "0" "30" "7" "91670135" "91670135" "subst" "3.65735E-5" "02327" "AKAP9_000274" "g.91670135C>T" "" "" "" "AKAP9(NM_005751.5):c.4840C>T (p.R1614W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851690" "0" "30" "7" "91670167" "91670167" "subst" "9.34921E-5" "02326" "AKAP9_000108" "g.91670167A>G" "" "" "" "AKAP9(NM_005751.4):c.4872A>G (p.E1624=), AKAP9(NM_005751.5):c.4872A>G (p.E1624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851691" "0" "30" "7" "91670167" "91670167" "subst" "9.34921E-5" "02327" "AKAP9_000108" "g.91670167A>G" "" "" "" "AKAP9(NM_005751.4):c.4872A>G (p.E1624=), AKAP9(NM_005751.5):c.4872A>G (p.E1624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851692" "0" "50" "7" "91682217" "91682217" "subst" "8.14372E-6" "02327" "AKAP9_000335" "g.91682217G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851693" "0" "50" "7" "91694630" "91694631" "ins" "4.07179E-6" "02330" "AKAP9_000336" "g.91694630_91694631insG" "" "" "" "AKAP9(NM_005751.5):c.6063_6064insG (p.Q2022Afs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851694" "0" "30" "7" "91694743" "91694743" "subst" "0.000572972" "02327" "AKAP9_000230" "g.91694743A>G" "" "" "" "AKAP9(NM_005751.4):c.6176A>G (p.E2059G), AKAP9(NM_005751.5):c.6176A>G (p.E2059G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851695" "0" "50" "7" "91706329" "91706332" "del" "0" "02327" "AKAP9_000337" "g.91706329_91706332del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851696" "0" "10" "7" "91706409" "91706409" "dup" "0" "02327" "AKAP9_000338" "g.91706409dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851697" "0" "30" "7" "91708891" "91708891" "subst" "3.26912E-5" "02327" "AKAP9_000339" "g.91708891T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851698" "0" "30" "7" "91708935" "91708935" "subst" "0.000317882" "02327" "AKAP9_000132" "g.91708935T>G" "" "" "" "AKAP9(NM_005751.4):c.7488T>G (p.(Asn2496Lys)), AKAP9(NM_005751.5):c.7488T>G (p.N2496K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851699" "0" "30" "7" "91709222" "91709222" "subst" "4.06683E-6" "02327" "AKAP9_000135" "g.91709222T>A" "" "" "" "AKAP9(NM_005751.5):c.7775T>A (p.L2592Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851701" "0" "30" "7" "91712685" "91712685" "subst" "0" "02327" "AKAP9_000341" "g.91712685A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851702" "0" "30" "7" "91713016" "91713016" "dup" "0" "02327" "AKAP9_000342" "g.91713016dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851703" "0" "30" "7" "91722418" "91722418" "subst" "4.07176E-6" "02327" "AKAP9_000343" "g.91722418G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851704" "0" "30" "7" "91726391" "91726391" "subst" "0.00138994" "02327" "AKAP9_000055" "g.91726391C>A" "" "" "" "AKAP9(NM_005751.4):c.10118C>A (p.S3373Y, p.(Ser3373Tyr)), AKAP9(NM_005751.5):c.10118C>A (p.S3373Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851705" "0" "30" "7" "91739463" "91739463" "subst" "0.000566687" "02326" "AKAP9_000346" "g.91739463T>C" "" "" "" "AKAP9(NM_005751.4):c.11714T>C (p.M3905T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860937" "0" "10" "7" "91630179" "91630179" "subst" "0.000524559" "02330" "AKAP9_000071" "g.91630179A>G" "" "" "" "AKAP9(NM_005751.4):c.948A>G (p.V316=), AKAP9(NM_005751.5):c.948A>G (p.V316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860938" "0" "50" "7" "91641825" "91641825" "subst" "2.84331E-5" "01943" "AKAP9_000328" "g.91641825A>G" "" "" "" "AKAP9(NM_005751.4):c.3401A>G (p.Y1134C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860939" "0" "50" "7" "91641829" "91641829" "subst" "0" "01943" "AKAP9_000329" "g.91641829G>A" "" "" "" "AKAP9(NM_005751.4):c.3405G>A (p.M1135I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860940" "0" "50" "7" "91646372" "91646372" "subst" "4.48499E-5" "02326" "AKAP9_000095" "g.91646372G>A" "" "" "" "AKAP9(NM_005751.4):c.3793G>A (p.E1265K), AKAP9(NM_005751.5):c.3793G>A (p.E1265K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860941" "0" "30" "7" "91659250" "91659250" "subst" "0.000389946" "02330" "AKAP9_000331" "g.91659250A>G" "" "" "" "AKAP9(NM_005751.5):c.4190A>G (p.Q1397R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860942" "0" "50" "7" "91667850" "91667850" "subst" "4.06656E-6" "02330" "AKAP9_000333" "g.91667850C>T" "" "" "" "AKAP9(NM_005751.5):c.4456C>T (p.H1486Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860943" "0" "50" "7" "91670132" "91670132" "subst" "4.06388E-6" "01943" "AKAP9_000107" "g.91670132A>G" "" "" "" "AKAP9(NM_005751.4):c.4837A>G (p.M1613V), AKAP9(NM_005751.5):c.4837A>G (p.M1613V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860944" "0" "50" "7" "91671404" "91671404" "subst" "4.06375E-6" "02326" "AKAP9_000334" "g.91671404G>C" "" "" "" "AKAP9(NM_005751.4):c.4962G>C (p.R1654S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860945" "0" "30" "7" "91714172" "91714172" "subst" "8.13127E-6" "02330" "AKAP9_000240" "g.91714172A>G" "" "" "" "AKAP9(NM_005751.4):c.8750A>G (p.H2917R), AKAP9(NM_005751.5):c.8750A>G (p.H2917R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860946" "0" "50" "7" "91724455" "91724455" "subst" "0.0001909" "01943" "AKAP9_000344" "g.91724455C>T" "" "" "" "AKAP9(NM_005751.4):c.9697C>T (p.R3233C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860947" "0" "50" "7" "91730294" "91730294" "subst" "4.06157E-6" "02330" "AKAP9_000345" "g.91730294A>G" "" "" "" "AKAP9(NM_005751.5):c.11021A>G (p.Y3674C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000877443" "0" "90" "7" "91708699" "91708702" "del" "0" "04120" "AKAP9_000347" "g.91708699_91708702del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" ".92079385_92079388del" "" "pathogenic (dominant)" "ACMG" "0000887999" "0" "50" "7" "91603181" "91603181" "subst" "4.06402E-6" "02330" "AKAP9_000348" "g.91603181A>G" "" "" "" "AKAP9(NM_005751.5):c.205A>G (p.S69G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888000" "0" "50" "7" "91603265" "91603265" "subst" "2.0331E-5" "02330" "AKAP9_000349" "g.91603265C>G" "" "" "" "AKAP9(NM_005751.5):c.289C>G (p.Q97E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888001" "0" "50" "7" "91630490" "91630490" "subst" "5.708E-5" "02330" "AKAP9_000073" "g.91630490A>G" "" "" "" "AKAP9(NM_005751.4):c.1259A>G (p.Q420R), AKAP9(NM_005751.5):c.1259A>G (p.Q420R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888002" "0" "50" "7" "91630493" "91630493" "subst" "2.03938E-5" "02325" "AKAP9_000074" "g.91630493G>A" "" "" "" "AKAP9(NM_005751.5):c.1262G>A (p.R421Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888003" "0" "30" "7" "91630739" "91630739" "subst" "8.57227E-5" "02326" "AKAP9_000350" "g.91630739A>G" "" "" "" "AKAP9(NM_005751.4):c.1508A>G (p.Q503R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888004" "0" "50" "7" "91641849" "91641849" "subst" "0" "02326" "AKAP9_000351" "g.91641849C>T" "" "" "" "AKAP9(NM_005751.4):c.3425C>T (p.A1142V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888005" "0" "10" "7" "91670095" "91670095" "subst" "4.06415E-5" "02330" "AKAP9_000273" "g.91670095A>G" "" "" "" "AKAP9(NM_005751.5):c.4800A>G (p.E1600=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888006" "0" "10" "7" "91694701" "91694701" "subst" "0.000676133" "02330" "AKAP9_000059" "g.91694701A>G" "" "" "" "AKAP9(NM_005751.5):c.6134A>G (p.N2045S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888007" "0" "10" "7" "91708521" "91708521" "subst" "6.10252E-5" "02330" "AKAP9_000126" "g.91708521A>G" "" "" "" "AKAP9(NM_005751.4):c.7074A>G (p.K2358=), AKAP9(NM_005751.5):c.7074A>G (p.K2358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888008" "0" "30" "7" "91713001" "91713001" "subst" "0" "02327" "AKAP9_000352" "g.91713001C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888009" "0" "10" "7" "91726494" "91726494" "subst" "0.000248848" "02330" "AKAP9_000353" "g.91726494G>A" "" "" "" "AKAP9(NM_005751.5):c.10221G>A (p.E3407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888011" "0" "50" "7" "91732040" "91732040" "subst" "4.46806E-5" "02330" "AKAP9_000166" "g.91732040G>T" "" "" "" "AKAP9(NM_005751.4):c.11230G>T (p.G3744W), AKAP9(NM_005751.5):c.11230G>T (p.G3744W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888012" "0" "10" "7" "91732045" "91732045" "subst" "8.12387E-5" "02330" "AKAP9_000354" "g.91732045G>C" "" "" "" "AKAP9(NM_005751.5):c.11235G>C (p.G3745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888013" "0" "30" "7" "91735023" "91735023" "subst" "0.000138068" "02327" "AKAP9_000355" "g.91735023G>C" "" "" "" "AKAP9(NM_005751.5):c.11362G>C (p.V3788L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912803" "0" "50" "7" "91630862" "91630867" "del" "0" "02330" "AKAP9_000356" "g.91630862_91630867del" "" "" "" "AKAP9(NM_005751.5):c.1631_1636delTTCAGA (p.I544_Q545del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912804" "0" "10" "7" "91632013" "91632013" "subst" "0.00380791" "02326" "AKAP9_000084" "g.91632013T>C" "" "" "" "AKAP9(NM_005751.4):c.2782T>C (p.L928=), AKAP9(NM_005751.5):c.2782T>C (p.L928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912805" "0" "30" "7" "91652341" "91652341" "subst" "0.000190931" "02326" "AKAP9_000100" "g.91652341G>C" "" "" "" "AKAP9(NM_005751.4):c.4148+18G>C, AKAP9(NM_005751.5):c.4148+18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912806" "0" "10" "7" "91667692" "91667692" "subst" "0.377555" "02325" "AKAP9_000357" "g.91667692T>G" "" "" "" "AKAP9(NM_005751.5):c.4339-41T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912807" "0" "10" "7" "91669977" "91669977" "del" "0" "02325" "AKAP9_000358" "g.91669977del" "" "" "" "AKAP9(NM_005751.5):c.4693-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912808" "0" "50" "7" "91682199" "91682199" "subst" "4.06818E-6" "02326" "AKAP9_000280" "g.91682199T>A" "" "" "" "AKAP9(NM_005751.4):c.5528T>A (p.M1843K), AKAP9(NM_005751.5):c.5528T>A (p.M1843K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912809" "0" "30" "7" "91708804" "91708804" "subst" "1.22289E-5" "02326" "AKAP9_000359" "g.91708804G>A" "" "" "" "AKAP9(NM_005751.4):c.7357G>A (p.V2453M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912810" "0" "10" "7" "91711791" "91711791" "subst" "0.37774" "02325" "AKAP9_000360" "g.91711791A>G" "" "" "" "AKAP9(NM_005751.5):c.8020-45A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912811" "0" "10" "7" "91713028" "91713028" "del" "0" "02325" "AKAP9_000361" "g.91713028del" "" "" "" "AKAP9(NM_005751.5):c.8646+59delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912812" "0" "10" "7" "91726604" "91726604" "subst" "0.00369384" "02326" "AKAP9_000155" "g.91726604A>G" "" "" "" "AKAP9(NM_005751.4):c.10331A>G (p.Q3444R), AKAP9(NM_005751.5):c.10331A>G (p.Q3444R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912813" "0" "50" "7" "91726900" "91726900" "subst" "4.06306E-6" "02330" "AKAP9_000299" "g.91726900C>A" "" "" "" "AKAP9(NM_005751.5):c.10399C>A (p.P3467T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912814" "0" "30" "7" "91727019" "91727019" "subst" "4.87405E-5" "02325" "AKAP9_000362" "g.91727019C>T" "" "" "" "AKAP9(NM_005751.5):c.10518C>T (p.T3506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912815" "0" "10" "7" "91727385" "91727385" "subst" "0.375318" "02325" "AKAP9_000363" "g.91727385G>A" "" "" "" "AKAP9(NM_005751.5):c.10608-38G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912816" "0" "10" "7" "91727408" "91727408" "subst" "0.00381034" "02326" "AKAP9_000159" "g.91727408G>C" "" "" "" "AKAP9(NM_005751.4):c.10608-15G>C, AKAP9(NM_005751.5):c.10608-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924766" "0" "50" "7" "91709222" "91709222" "subst" "4.06683E-6" "02325" "AKAP9_000135" "g.91709222T>A" "" "" "" "AKAP9(NM_005751.5):c.7775T>A (p.L2592Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929384" "0" "50" "7" "91652257" "91652257" "subst" "4.06187E-6" "02330" "AKAP9_000364" "g.91652257A>G" "" "" "" "AKAP9(NM_005751.5):c.4082A>G (p.Y1361C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929385" "0" "10" "7" "91670137" "91670137" "subst" "0" "02330" "AKAP9_000365" "g.91670137G>T" "" "" "" "AKAP9(NM_005751.5):c.4842G>T (p.R1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929386" "0" "30" "7" "91682059" "91682059" "subst" "0" "02330" "AKAP9_000366" "g.91682059C>G" "" "" "" "AKAP9(NM_005751.5):c.5388C>G (p.P1796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929387" "0" "50" "7" "91726504" "91726504" "subst" "0" "02330" "AKAP9_000367" "g.91726504A>G" "" "" "" "AKAP9(NM_005751.5):c.10231A>G (p.K3411E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936475" "0" "50" "7" "91700273" "91700273" "subst" "0" "00006" "AKAP9_000368" "g.91700273G>C" "" "{PMID:Hamdan 2017:29100083}" "" "NM_147185:c.G6538C (E2180Q)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000948953" "0" "30" "7" "91660873" "91660873" "subst" "5.6924E-5" "02326" "AKAP9_000214" "g.91660873G>A" "" "" "" "AKAP9(NM_005751.4):c.4293G>A (p.L1431=), AKAP9(NM_005751.5):c.4293G>A (p.(Leu1431=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948954" "0" "30" "7" "91694541" "91694541" "subst" "0.00189468" "02325" "AKAP9_000179" "g.91694541A>G" "" "" "" "AKAP9(NM_005751.4):c.5978-4A>G, AKAP9(NM_005751.5):c.5978-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948955" "0" "10" "7" "91699349" "91699349" "subst" "0" "02330" "AKAP9_000369" "g.91699349A>G" "" "" "" "AKAP9(NM_005751.5):c.6336A>G (p.E2112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948956" "0" "50" "7" "91699518" "91699518" "subst" "0" "02325" "AKAP9_000370" "g.91699518A>C" "" "" "" "AKAP9(NM_005751.5):c.6505A>C (p.K2169Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964696" "0" "30" "7" "91667736" "91667736" "subst" "0.000608004" "02326" "AKAP9_000104" "g.91667736A>G" "" "" "" "AKAP9(NM_005751.4):c.4342A>G (p.I1448V), AKAP9(NM_005751.5):c.4342A>G (p.I1448V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964697" "0" "50" "7" "91727532" "91727532" "subst" "1.65131E-5" "02330" "AKAP9_000371" "g.91727532A>G" "" "" "" "AKAP9(NM_005751.5):c.10713+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964698" "0" "10" "7" "91732083" "91732083" "subst" "0.00169052" "02326" "AKAP9_000167" "g.91732083G>A" "" "" "" "AKAP9(NM_005751.4):c.11273G>A (p.R3758H), AKAP9(NM_005751.5):c.11273G>A (p.R3758H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977878" "0" "10" "7" "91726140" "91726140" "subst" "5.28155E-5" "02330" "AKAP9_000372" "g.91726140A>G" "" "" "" "AKAP9(NM_005751.5):c.9867A>G (p.S3289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000996708" "0" "50" "7" "91645491" "91645491" "subst" "0" "02327" "AKAP9_000373" "g.91645491G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996709" "0" "30" "7" "91708655" "91708655" "subst" "6.9351E-5" "02330" "AKAP9_000374" "g.91708655A>G" "" "" "" "AKAP9(NM_005751.5):c.7208A>G (p.E2403G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996710" "0" "30" "7" "91735023" "91735023" "subst" "0.000138068" "02325" "AKAP9_000355" "g.91735023G>C" "" "" "" "AKAP9(NM_005751.5):c.11362G>C (p.V3788L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996711" "0" "30" "7" "91737802" "91737802" "subst" "0" "02325" "AKAP9_000375" "g.91737802C>T" "" "" "" "AKAP9(NM_005751.5):c.11547-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014384" "0" "50" "7" "91624927" "91624927" "subst" "0" "02330" "AKAP9_000376" "g.91624927G>A" "" "" "" "AKAP9(NM_005751.5):c.743G>A (p.S248N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014385" "0" "50" "7" "91631669" "91631669" "subst" "0" "02325" "AKAP9_000377" "g.91631669C>T" "" "" "" "AKAP9(NM_005751.5):c.2438C>T (p.S813F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014386" "0" "50" "7" "91732101" "91732101" "subst" "3.65851E-5" "02326" "AKAP9_000256" "g.91732101G>A" "" "" "" "AKAP9(NM_005751.4):c.11291G>A (p.R3764K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025434" "0" "30" "7" "91631974" "91631974" "subst" "1.63895E-5" "02327" "AKAP9_000378" "g.91631974T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025435" "0" "50" "7" "91687570" "91687570" "del" "0" "02327" "AKAP9_000379" "g.91687570del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025436" "0" "50" "7" "91726617" "91726617" "subst" "4.13404E-6" "02326" "AKAP9_000380" "g.91726617A>T" "" "" "" "AKAP9(NM_005751.4):c.10344A>T (p.L3448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036562" "0" "30" "7" "91603115" "91603115" "subst" "0.00809205" "01804" "AKAP9_000064" "g.91603115C>T" "" "" "" "AKAP9(NM_005751.4):c.139C>T (p.H47Y), AKAP9(NM_005751.5):c.139C>T (p.H47Y, p.(His47Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036563" "0" "50" "7" "91603261" "91603261" "subst" "8.13035E-6" "02330" "AKAP9_000381" "g.91603261T>A" "" "" "" "AKAP9(NM_005751.5):c.285T>A (p.H95Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036564" "0" "50" "7" "91603263" "91603263" "subst" "8.13048E-6" "02330" "AKAP9_000382" "g.91603263A>C" "" "" "" "AKAP9(NM_005751.5):c.287A>C (p.E96A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036565" "0" "10" "7" "91646406" "91646406" "subst" "0.00924742" "01804" "AKAP9_000054" "g.91646406G>A" "" "" "" "AKAP9(NM_005751.5):c.3827G>A (p.R1276Q, p.(Arg1276Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036566" "0" "50" "7" "91659305" "91659305" "subst" "0" "02327" "AKAP9_000383" "g.91659305G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036567" "0" "30" "7" "91714870" "91714870" "subst" "0.000353463" "01804" "AKAP9_000384" "g.91714870A>G" "" "" "" "AKAP9(NM_005751.5):c.8894A>G (p.(Tyr2965Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036568" "0" "10" "7" "91729127" "91729127" "subst" "0.00700437" "01804" "AKAP9_000162" "g.91729127A>G" "" "" "" "AKAP9(NM_005751.4):c.10840A>G (p.M3614V), AKAP9(NM_005751.5):c.10840A>G (p.M3614V, p.(Met3614Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001052716" "0" "30" "7" "91660873" "91660873" "subst" "5.6924E-5" "01804" "AKAP9_000214" "g.91660873G>A" "" "" "" "AKAP9(NM_005751.4):c.4293G>A (p.L1431=), AKAP9(NM_005751.5):c.4293G>A (p.(Leu1431=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064745" "0" "50" "7" "91694542" "91694542" "subst" "0" "02325" "chr7_007651" "g.91694542C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064746" "0" "30" "7" "91713963" "91713963" "subst" "0.000179175" "02325" "AKAP9_000051" "g.91713963A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064747" "0" "50" "7" "91726504" "91726504" "subst" "0" "02325" "AKAP9_000367" "g.91726504A>G" "" "" "" "AKAP9(NM_005751.5):c.10231A>G (p.K3411E)" "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 AKAP9 ## Count = 469 "{{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}}" "0000052355" "00002306" "10" "5246" "0" "5246" "0" "c.5246T>C" "r.(?)" "p.(Ile1749Thr)" "21" "0000052363" "00002306" "50" "3827" "0" "3827" "0" "c.3827G>A" "r.(?)" "p.(Arg1276Gln)" "12" "0000052364" "00002306" "50" "8573" "0" "8573" "0" "c.8573A>G" "r.(?)" "p.(Tyr2858Cys)" "33" "0000052365" "00002306" "50" "8656" "0" "8656" "0" "c.8656A>G" "r.(?)" "p.(Ile2886Val)" "34" "0000067233" "00002306" "30" "6005" "0" "6008" "0" "c.6005_6008del" "r.(?)" "p.(Met2002Argfs*4)" "25" "0000096563" "00002306" "50" "10118" "0" "10118" "0" "c.10118C>A" "r.(?)" "p.(Ser3373Tyr)" "41" "0000096565" "00002306" "50" "3580" "0" "3580" "0" "c.3580G>A" "r.(?)" "p.(Ala1194Thr)" "10" "0000096960" "00002306" "50" "10664" "0" "10664" "0" "c.10664A>T" "r.(?)" "p.(Asp3555Val)" "43" "0000168860" "00002306" "50" "6134" "0" "6134" "0" "c.6134A>G" "r.(?)" "p.(Asn2045Ser)" "25" "0000217956" "00002306" "50" "8747" "0" "8747" "0" "c.8747C>A" "r.(?)" "p.(Thr2916Lys)" "" "0000218391" "00002306" "50" "7535" "0" "7535" "0" "c.7535A>T" "r.(?)" "p.(Asp2512Val)" "" "0000218400" "00002306" "50" "674" "0" "674" "0" "c.674T>C" "r.(?)" "p.(Met225Thr)" "" "0000246562" "00002306" "10" "10840" "0" "10840" "0" "c.10840A>G" "r.(?)" "p.(Met3614Val)" "" "0000246565" "00002306" "10" "8286" "0" "8286" "0" "c.8286A>C" "r.(?)" "p.(Lys2762Asn)" "" "0000246566" "00002306" "10" "5978" "-4" "5978" "-4" "c.5978-4A>G" "r.spl?" "p.?" "" "0000246567" "00002306" "30" "5565" "0" "5565" "0" "c.5565A>G" "r.(?)" "p.(Glu1855=)" "" "0000246571" "00002306" "10" "3504" "0" "3504" "0" "c.3504A>G" "r.(?)" "p.(Glu1168=)" "" "0000246572" "00002306" "10" "10426" "0" "10426" "0" "c.10426A>C" "r.(?)" "p.(Arg3476=)" "" "0000246586" "00002306" "10" "747" "0" "747" "0" "c.747A>G" "r.(?)" "p.(Glu249=)" "" "0000246587" "00002306" "10" "1053" "0" "1053" "0" "c.1053A>G" "r.(?)" "p.(Lys351=)" "" "0000246588" "00002306" "10" "3066" "0" "3066" "0" "c.3066A>G" "r.(?)" "p.(Gly1022=)" "" "0000246589" "00002306" "10" "4825" "0" "4825" "0" "c.4825A>C" "r.(?)" "p.(Arg1609=)" "" "0000246590" "00002306" "10" "6696" "0" "6696" "0" "c.6696A>G" "r.(?)" "p.(Gln2232=)" "" "0000246591" "00002306" "10" "7578" "0" "7578" "0" "c.7578A>G" "r.(?)" "p.(Gln2526=)" "" "0000246595" "00002306" "10" "7451" "0" "7451" "0" "c.7451A>G" "r.(?)" "p.(Lys2484Arg)" "" "0000246597" "00002306" "10" "9092" "0" "9092" "0" "c.9092A>G" "r.(?)" "p.(Gln3031Arg)" "" "0000246598" "00002306" "10" "10331" "0" "10331" "0" "c.10331A>G" "r.(?)" "p.(Gln3444Arg)" "" "0000246600" "00002306" "10" "3193" "0" "3193" "0" "c.3193A>G" "r.(?)" "p.(Ser1065Gly)" "" "0000246624" "00002306" "10" "4246" "-6" "4246" "-6" "c.4246-6A>T" "r.(=)" "p.(=)" "" "0000246625" "00002306" "10" "6508" "-20" "6508" "-20" "c.6508-20A>T" "r.(=)" "p.(=)" "" "0000246626" "00002306" "10" "6508" "-18" "6508" "-18" "c.6508-18A>T" "r.(=)" "p.(=)" "" "0000246627" "00002306" "10" "11331" "-11" "11331" "-11" "c.11331-11A>T" "r.(=)" "p.(=)" "" "0000246633" "00002306" "10" "4872" "0" "4872" "0" "c.4872A>G" "r.(?)" "p.(Glu1624=)" "" "0000246634" "00002306" "30" "4342" "0" "4342" "0" "c.4342A>G" "r.(?)" "p.(Ile1448Val)" "" "0000246635" "00002306" "30" "10672" "0" "10672" "0" "c.10672A>G" "r.(?)" "p.(Ile3558Val)" "" "0000246636" "00002306" "30" "3299" "0" "3299" "0" "c.3299A>G" "r.(?)" "p.(Asn1100Ser)" "" "0000246642" "00002306" "30" "576" "3" "576" "3" "c.576+3A>G" "r.spl?" "p.?" "" "0000246648" "00002306" "50" "2003" "0" "2003" "0" "c.2003A>C" "r.(?)" "p.(Asp668Ala)" "" "0000246649" "00002306" "50" "8552" "0" "8552" "0" "c.8552A>C" "r.(?)" "p.(Glu2851Ala)" "" "0000246651" "00002306" "50" "11323" "0" "11323" "0" "c.11323A>T" "r.(?)" "p.(Ile3775Phe)" "" "0000246657" "00002306" "50" "4837" "0" "4837" "0" "c.4837A>G" "r.(?)" "p.(Met1613Val)" "" "0000246658" "00002306" "50" "3803" "0" "3803" "0" "c.3803A>G" "r.(?)" "p.(Asn1268Ser)" "" "0000246661" "00002306" "50" "8468" "0" "8468" "0" "c.8468A>G" "r.(?)" "p.(Gln2823Arg)" "" "0000248366" "00002306" "10" "3504" "0" "3504" "0" "c.3504A>G" "r.(?)" "p.(Glu1168=)" "" "0000248367" "00002306" "10" "10426" "0" "10426" "0" "c.10426A>C" "r.(?)" "p.(Arg3476=)" "" "0000250966" "00002306" "10" "10840" "0" "10840" "0" "c.10840A>G" "r.(?)" "p.(Met3614Val)" "" "0000251403" "00002306" "10" "8646" "48" "8646" "48" "c.8646+48A>T" "r.(=)" "p.(=)" "" "0000251733" "00002306" "30" "8286" "0" "8286" "0" "c.8286A>C" "r.(?)" "p.(Lys2762Asn)" "" "0000251743" "00002306" "30" "5978" "-4" "5978" "-4" "c.5978-4A>G" "r.spl?" "p.?" "" "0000251751" "00002306" "30" "5565" "0" "5565" "0" "c.5565A>G" "r.(?)" "p.(Glu1855=)" "" "0000251792" "00002306" "30" "6837" "0" "6837" "0" "c.6837A>G" "r.(?)" "p.(Leu2279=)" "" "0000251793" "00002306" "30" "7074" "0" "7074" "0" "c.7074A>G" "r.(?)" "p.(Lys2358=)" "" "0000251894" "00002306" "30" "10208" "0" "10208" "0" "c.10208A>G" "r.(?)" "p.(Lys3403Arg)" "" "0000251942" "00002306" "30" "7957" "0" "7957" "0" "c.7957A>G" "r.(?)" "p.(Asn2653Asp)" "" "0000251961" "00002306" "30" "1259" "0" "1259" "0" "c.1259A>G" "r.(?)" "p.(Gln420Arg)" "" "0000255128" "00002306" "30" "948" "0" "948" "0" "c.948A>G" "r.(?)" "p.(Val316=)" "" "0000257478" "00002306" "30" "10118" "0" "10118" "0" "c.10118C>A" "r.(?)" "p.(Ser3373Tyr)" "" "0000257479" "00002306" "10" "10197" "0" "10197" "0" "c.10197T>C" "r.(?)" "p.(Thr3399=)" "" "0000257480" "00002306" "30" "10254" "0" "10254" "0" "c.10254G>C" "r.(?)" "p.(Gln3418His)" "" "0000257481" "00002306" "30" "10459" "0" "10459" "0" "c.10459G>A" "r.(?)" "p.(Glu3487Lys)" "" "0000257482" "00002306" "10" "10485" "0" "10485" "0" "c.10485C>T" "r.(?)" "p.(Tyr3495=)" "" "0000257483" "00002306" "10" "10608" "-15" "10608" "-15" "c.10608-15G>C" "r.(=)" "p.(=)" "" "0000257484" "00002306" "10" "10767" "0" "10767" "0" "c.10767G>A" "r.(?)" "p.(Leu3589=)" "" "0000257485" "00002306" "10" "10845" "0" "10845" "0" "c.10845G>A" "r.(?)" "p.(Lys3615=)" "" "0000257486" "00002306" "10" "11049" "0" "11049" "0" "c.11049C>T" "r.(?)" "p.(Asp3683=)" "" "0000257487" "00002306" "10" "11273" "0" "11273" "0" "c.11273G>A" "r.(?)" "p.(Arg3758His)" "" "0000257488" "00002306" "10" "11417" "-4" "11417" "-4" "c.11417-4T>G" "r.spl?" "p.?" "" "0000257489" "00002306" "50" "11494" "0" "11494" "0" "c.11494C>T" "r.(?)" "p.(Arg3832Cys)" "" "0000257490" "00002306" "50" "1262" "0" "1262" "0" "c.1262G>A" "r.(?)" "p.(Arg421Gln)" "" "0000257491" "00002306" "10" "1301" "0" "1301" "0" "c.1301G>A" "r.(?)" "p.(Arg434Gln)" "" "0000257492" "00002306" "10" "1389" "0" "1389" "0" "c.1389G>T" "r.(?)" "p.(Met463Ile)" "" "0000257493" "00002306" "10" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(His47Tyr)" "" "0000257494" "00002306" "30" "1514" "0" "1514" "0" "c.1514C>G" "r.(?)" "p.(Thr505Ser)" "" "0000257495" "00002306" "10" "1536" "0" "1536" "0" "c.1536C>T" "r.(?)" "p.(Leu512=)" "" "0000257496" "00002306" "10" "1575" "0" "1575" "0" "c.1575T>C" "r.(?)" "p.(Ala525=)" "" "0000257497" "00002306" "10" "171" "0" "171" "0" "c.171T>C" "r.(?)" "p.(Ile57=)" "" "0000257498" "00002306" "50" "1826" "0" "1826" "0" "c.1826C>A" "r.(?)" "p.(Ala609Asp)" "" "0000257499" "00002306" "50" "1900" "0" "1900" "0" "c.1900G>A" "r.(?)" "p.(Glu634Lys)" "" "0000257500" "00002306" "50" "1946" "0" "1946" "0" "c.1946G>A" "r.(?)" "p.(Arg649Gln)" "" "0000257501" "00002306" "50" "2554" "0" "2554" "0" "c.2554T>C" "r.(?)" "p.(Phe852Leu)" "" "0000257502" "00002306" "50" "2581" "0" "2581" "0" "c.2581T>C" "r.(?)" "p.(Tyr861His)" "" "0000257503" "00002306" "50" "2609" "0" "2609" "0" "c.2609G>A" "r.(?)" "p.(Cys870Tyr)" "" "0000257504" "00002306" "10" "2782" "0" "2782" "0" "c.2782T>C" "r.(?)" "p.(Leu928=)" "" "0000257505" "00002306" "50" "3055" "0" "3055" "0" "c.3055T>G" "r.(?)" "p.(Leu1019Val)" "" "0000257506" "00002306" "10" "3075" "0" "3075" "0" "c.3075C>T" "r.(?)" "p.(Thr1025=)" "" "0000257507" "00002306" "10" "3223" "0" "3223" "0" "c.3223T>C" "r.(?)" "p.(Leu1075=)" "" "0000257508" "00002306" "10" "3318" "13" "3318" "13" "c.3318+13C>A" "r.(=)" "p.(=)" "" "0000257509" "00002306" "50" "3364" "0" "3365" "0" "c.3364_3365del" "r.(?)" "p.(Leu1122GlyfsTer11)" "" "0000257510" "00002306" "30" "3430" "0" "3430" "0" "c.3430T>C" "r.(?)" "p.(Cys1144Arg)" "" "0000257511" "00002306" "50" "3793" "0" "3793" "0" "c.3793G>A" "r.(?)" "p.(Glu1265Lys)" "" "0000257512" "00002306" "10" "3827" "0" "3827" "0" "c.3827G>A" "r.(?)" "p.(Arg1276Gln)" "" "0000257513" "00002306" "10" "4004" "0" "4006" "0" "c.4004_4006dup" "r.(?)" "p.(Lys1335_Leu1336insGln)" "" "0000257514" "00002306" "10" "4148" "18" "4148" "18" "c.4148+18G>C" "r.(=)" "p.(=)" "" "0000257515" "00002306" "50" "4151" "0" "4151" "0" "c.4151T>A" "r.(?)" "p.(Leu1384Ter)" "" "0000257516" "00002306" "10" "4199" "0" "4199" "0" "c.4199T>C" "r.(?)" "p.(Met1400Thr)" "" "0000257517" "00002306" "50" "4826" "0" "4826" "0" "c.4826G>A" "r.(?)" "p.(Arg1609Lys)" "" "0000257518" "00002306" "10" "4841" "0" "4841" "0" "c.4841G>A" "r.(?)" "p.(Arg1614Gln)" "" "0000257519" "00002306" "10" "510" "0" "510" "0" "c.510G>C" "r.(?)" "p.(Glu170Asp)" "" "0000257520" "00002306" "10" "5163" "-20" "5163" "-20" "c.5163-20G>A" "r.(=)" "p.(=)" "" "0000257521" "00002306" "30" "5246" "0" "5246" "0" "c.5246T>C" "r.(?)" "p.(Ile1749Thr)" "" "0000257522" "00002306" "10" "5369" "-3" "5369" "-3" "c.5369-3T>C" "r.spl?" "p.?" "" "0000257523" "00002306" "10" "5610" "0" "5610" "0" "c.5610T>C" "r.(?)" "p.(His1870=)" "" "0000257524" "00002306" "50" "5725" "0" "5725" "0" "c.5725G>A" "r.(?)" "p.(Ala1909Thr)" "" "0000257525" "00002306" "50" "5767" "0" "5767" "0" "c.5767G>A" "r.(?)" "p.(Val1923Ile)" "" "0000257526" "00002306" "10" "5778" "0" "5778" "0" "c.5778C>T" "r.(?)" "p.(Gly1926=)" "" "0000257527" "00002306" "30" "6037" "0" "6037" "0" "c.6037G>A" "r.(?)" "p.(Glu2013Lys)" "" "0000257528" "00002306" "30" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Asp204Asn)" "" "0000257529" "00002306" "50" "6195" "0" "6195" "0" "c.6195G>A" "r.(?)" "p.(Met2065Ile)" "" "0000257530" "00002306" "10" "6249" "0" "6249" "0" "c.6249C>T" "r.(?)" "p.(Phe2083=)" "" "0000257531" "00002306" "10" "6508" "-18" "6508" "-15" "c.6508-18_6508-15del" "r.(=)" "p.(=)" "" "0000257532" "00002306" "30" "6518" "0" "6518" "0" "c.6518G>A" "r.(?)" "p.(Arg2173Gln)" "" "0000257533" "00002306" "10" "6556" "0" "6556" "0" "c.6556T>C" "r.(?)" "p.(Ser2186Pro)" "" "0000257534" "00002306" "50" "6568" "0" "6568" "0" "c.6568C>G" "r.(?)" "p.(Gln2190Glu)" "" "0000257535" "00002306" "50" "6765" "3" "6765" "8" "c.6765+3_6765+8del" "r.spl?" "p.?" "" "0000257536" "00002306" "10" "6945" "8" "6945" "8" "c.6945+8C>T" "r.(=)" "p.(=)" "" "0000257537" "00002306" "10" "7023" "0" "7023" "0" "c.7023G>A" "r.(?)" "p.(Val2341=)" "" "0000257538" "00002306" "30" "7190" "0" "7190" "0" "c.7190C>G" "r.(?)" "p.(Ala2397Gly)" "" "0000257539" "00002306" "10" "7275" "0" "7275" "0" "c.7275G>A" "r.(?)" "p.(Gln2425=)" "" "0000257540" "00002306" "30" "7355" "0" "7358" "0" "c.7355_7358del" "r.(?)" "p.(Asn2452ArgfsTer3)" "" "0000257541" "00002306" "30" "7488" "0" "7488" "0" "c.7488T>G" "r.(?)" "p.(Asn2496Lys)" "" "0000257542" "00002306" "50" "7775" "0" "7775" "0" "c.7775T>A" "r.(?)" "p.(Leu2592Gln)" "" "0000257543" "00002306" "10" "7788" "0" "7788" "0" "c.7788G>A" "r.(?)" "p.(Glu2596=)" "" "0000257544" "00002306" "10" "80" "0" "80" "0" "c.80C>T" "r.(?)" "p.(Ser27Leu)" "" "0000257545" "00002306" "30" "8485" "0" "8485" "0" "c.8485G>A" "r.(?)" "p.(Glu2829Lys)" "" "0000257546" "00002306" "10" "8665" "0" "8665" "0" "c.8665C>T" "r.(?)" "p.(Leu2889=)" "" "0000257547" "00002306" "50" "8695" "0" "8695" "0" "c.8695G>A" "r.(?)" "p.(Glu2899Lys)" "" "0000257548" "00002306" "30" "8747" "0" "8747" "0" "c.8747C>A" "r.(?)" "p.(Thr2916Lys)" "" "0000257549" "00002306" "10" "8935" "0" "8935" "0" "c.8935C>T" "r.(?)" "p.(Pro2979Ser)" "" "0000257550" "00002306" "10" "9021" "0" "9021" "0" "c.9021C>T" "r.(?)" "p.(Ala3007=)" "" "0000257551" "00002306" "10" "9145" "0" "9145" "0" "c.9145C>T" "r.(?)" "p.(Leu3049=)" "" "0000257552" "00002306" "10" "9181" "0" "9181" "0" "c.9181C>T" "r.(?)" "p.(Leu3061=)" "" "0000257553" "00002306" "10" "9358" "11" "9358" "11" "c.9358+11T>C" "r.(=)" "p.(=)" "" "0000257554" "00002306" "10" "9929" "0" "9929" "0" "c.9929G>A" "r.(?)" "p.(Arg3310Gln)" "" "0000258731" "00002306" "10" "1389" "0" "1389" "0" "c.1389G>T" "r.(?)" "p.(Met463Ile)" "" "0000258732" "00002306" "10" "3075" "0" "3075" "0" "c.3075C>T" "r.(?)" "p.(Thr1025=)" "" "0000258733" "00002306" "10" "5163" "-20" "5163" "-20" "c.5163-20G>A" "r.(=)" "p.(=)" "" "0000258734" "00002306" "10" "5778" "0" "5778" "0" "c.5778C>T" "r.(?)" "p.(Gly1926=)" "" "0000258735" "00002306" "10" "6945" "8" "6945" "8" "c.6945+8C>T" "r.(=)" "p.(=)" "" "0000258736" "00002306" "10" "8665" "0" "8665" "0" "c.8665C>T" "r.(?)" "p.(Leu2889=)" "" "0000258737" "00002306" "10" "8935" "0" "8935" "0" "c.8935C>T" "r.(?)" "p.(Pro2979Ser)" "" "0000258738" "00002306" "10" "9145" "0" "9145" "0" "c.9145C>T" "r.(?)" "p.(Leu3049=)" "" "0000260725" "00002306" "30" "10118" "0" "10118" "0" "c.10118C>A" "r.(?)" "p.(Ser3373Tyr)" "" "0000260726" "00002306" "30" "10887" "0" "10887" "0" "c.10887T>C" "r.(?)" "p.(Gly3629=)" "" "0000260727" "00002306" "70" "11230" "0" "11230" "0" "c.11230G>T" "r.(?)" "p.(Gly3744Trp)" "" "0000260728" "00002306" "10" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(His47Tyr)" "" "0000260729" "00002306" "30" "1737" "0" "1737" "0" "c.1737T>G" "r.(?)" "p.(Ser579=)" "" "0000260730" "00002306" "50" "2867" "0" "2867" "0" "c.2867C>T" "r.(?)" "p.(Ser956Leu)" "" "0000260731" "00002306" "30" "4127" "0" "4127" "0" "c.4127G>C" "r.(?)" "p.(Ser1376Thr)" "" "0000260732" "00002306" "30" "510" "0" "510" "0" "c.510G>C" "r.(?)" "p.(Glu170Asp)" "" "0000260733" "00002306" "30" "5246" "0" "5246" "0" "c.5246T>C" "r.(?)" "p.(Ile1749Thr)" "" "0000260734" "00002306" "30" "6556" "0" "6556" "0" "c.6556T>C" "r.(?)" "p.(Ser2186Pro)" "" "0000260735" "00002306" "50" "7628" "0" "7628" "0" "c.7628T>C" "r.(?)" "p.(Leu2543Pro)" "" "0000260736" "00002306" "30" "7886" "0" "7886" "0" "c.7886T>C" "r.(?)" "p.(Val2629Ala)" "" "0000260737" "00002306" "30" "80" "0" "80" "0" "c.80C>T" "r.(?)" "p.(Ser27Leu)" "" "0000262169" "00002306" "30" "10767" "0" "10767" "0" "c.10767G>A" "r.(?)" "p.(Leu3589=)" "" "0000262170" "00002306" "30" "80" "0" "80" "0" "c.80C>T" "r.(?)" "p.(Ser27Leu)" "" "0000262171" "00002306" "10" "8485" "0" "8485" "0" "c.8485G>A" "r.(?)" "p.(Glu2829Lys)" "" "0000331672" "00002306" "50" "288" "0" "288" "0" "c.288G>T" "r.(?)" "p.(Glu96Asp)" "" "0000331673" "00002306" "50" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Met125Ile)" "" "0000331674" "00002306" "50" "971" "0" "971" "0" "c.971T>C" "r.(?)" "p.(Ile324Thr)" "" "0000331675" "00002306" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000331676" "00002306" "50" "7314" "0" "7314" "0" "c.7314A>T" "r.(?)" "p.(Glu2438Asp)" "" "0000406038" "00002306" "30" "1259" "0" "1259" "0" "c.1259A>G" "r.(?)" "p.(Gln420Arg)" "" "0000532865" "00002306" "30" "-6" "0" "-6" "0" "c.-6G>T" "r.(?)" "p.(=)" "" "0000532867" "00002306" "30" "54" "0" "54" "0" "c.54C>A" "r.(?)" "p.(Ala18=)" "" "0000532868" "00002306" "10" "80" "0" "80" "0" "c.80C>T" "r.(?)" "p.(Ser27Leu)" "" "0000532869" "00002306" "50" "83" "0" "83" "0" "c.83A>G" "r.(?)" "p.(Asp28Gly)" "" "0000532870" "00002306" "10" "351" "12" "351" "12" "c.351+12T>C" "r.(=)" "p.(=)" "" "0000532871" "00002306" "10" "510" "0" "510" "0" "c.510G>C" "r.(?)" "p.(Glu170Asp)" "" "0000532872" "00002306" "10" "645" "0" "645" "0" "c.645A>G" "r.(?)" "p.(Gln215=)" "" "0000532873" "00002306" "30" "714" "0" "714" "0" "c.714A>G" "r.(?)" "p.(Leu238=)" "" "0000532874" "00002306" "30" "948" "0" "948" "0" "c.948A>G" "r.(?)" "p.(Val316=)" "" "0000532875" "00002306" "30" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Val367Met)" "" "0000532876" "00002306" "50" "1334" "0" "1334" "0" "c.1334T>C" "r.(?)" "p.(Ile445Thr)" "" "0000532877" "00002306" "10" "1372" "0" "1372" "0" "c.1372G>C" "r.(?)" "p.(Ala458Pro)" "" "0000532878" "00002306" "10" "1389" "0" "1389" "0" "c.1389G>T" "r.(?)" "p.(Met463Ile)" "" "0000532879" "00002306" "30" "1397" "0" "1397" "0" "c.1397G>A" "r.(?)" "p.(Arg466Gln)" "" "0000532880" "00002306" "10" "1398" "0" "1398" "0" "c.1398G>A" "r.(?)" "p.(Arg466=)" "" "0000532881" "00002306" "10" "1524" "0" "1524" "0" "c.1524A>G" "r.(?)" "p.(Gln508=)" "" "0000532882" "00002306" "30" "1536" "0" "1536" "0" "c.1536C>T" "r.(?)" "p.(Leu512=)" "" "0000532883" "00002306" "50" "1570" "0" "1570" "0" "c.1570T>C" "r.(?)" "p.(Cys524Arg)" "" "0000532884" "00002306" "30" "1599" "0" "1599" "0" "c.1599T>G" "r.(?)" "p.(Leu533=)" "" "0000532885" "00002306" "30" "1737" "0" "1737" "0" "c.1737T>G" "r.(?)" "p.(Ser579=)" "" "0000532886" "00002306" "30" "1946" "0" "1946" "0" "c.1946G>A" "r.(?)" "p.(Arg649Gln)" "" "0000532888" "00002306" "30" "2377" "0" "2377" "0" "c.2377A>G" "r.(?)" "p.(Ile793Val)" "" "0000532889" "00002306" "30" "2511" "0" "2511" "0" "c.2511T>C" "r.(?)" "p.(Ile837=)" "" "0000532890" "00002306" "10" "2945" "0" "2945" "0" "c.2945C>A" "r.(?)" "p.(Ser982Tyr)" "" "0000532891" "00002306" "10" "3072" "0" "3072" "0" "c.3072G>C" "r.(?)" "p.(Val1024=)" "" "0000532892" "00002306" "30" "3148" "0" "3148" "0" "c.3148G>A" "r.(?)" "p.(Val1050Met)" "" "0000532893" "00002306" "30" "3672" "0" "3672" "0" "c.3672A>G" "r.(?)" "p.(Ala1224=)" "" "0000532894" "00002306" "30" "3868" "0" "3868" "0" "c.3868C>T" "r.(?)" "p.(Leu1290Phe)" "" "0000532895" "00002306" "30" "4001" "0" "4001" "0" "c.4001C>G" "r.(?)" "p.(Thr1334Ser)" "" "0000532896" "00002306" "10" "4004" "0" "4006" "0" "c.4004_4006dup" "r.(?)" "p.(Lys1335_Leu1336insGln)" "" "0000532897" "00002306" "10" "4005" "0" "4006" "0" "c.4005_4006insACA" "r.(?)" "p.(Lys1335_Leu1336insThr)" "" "0000532898" "00002306" "30" "4164" "0" "4164" "0" "c.4164G>A" "r.(?)" "p.(Ser1388=)" "" "0000532899" "00002306" "10" "4245" "13" "4245" "13" "c.4245+13del" "r.(=)" "p.(=)" "" "0000532900" "00002306" "30" "4293" "0" "4293" "0" "c.4293G>A" "r.(?)" "p.(Leu1431=)" "" "0000532901" "00002306" "30" "4342" "0" "4342" "0" "c.4342A>G" "r.(?)" "p.(Ile1448Val)" "" "0000532902" "00002306" "30" "4508" "0" "4508" "0" "c.4508T>C" "r.(?)" "p.(Phe1503Ser)" "" "0000532903" "00002306" "30" "4679" "0" "4679" "0" "c.4679T>C" "r.(?)" "p.(Ile1560Thr)" "" "0000532904" "00002306" "30" "4693" "-10" "4693" "-10" "c.4693-10A>T" "r.(=)" "p.(=)" "" "0000532905" "00002306" "10" "4693" "-7" "4693" "-7" "c.4693-7A>T" "r.(=)" "p.(=)" "" "0000532906" "00002306" "50" "4765" "0" "4765" "0" "c.4765G>A" "r.(?)" "p.(Asp1589Asn)" "" "0000532907" "00002306" "50" "4927" "0" "4927" "0" "c.4927A>C" "r.(?)" "p.(Ile1643Leu)" "" "0000532908" "00002306" "30" "5035" "0" "5035" "0" "c.5035C>T" "r.(?)" "p.(Arg1679Cys)" "" "0000532909" "00002306" "30" "5035" "0" "5035" "0" "c.5035C>T" "r.(?)" "p.(Arg1679Cys)" "" "0000532910" "00002306" "30" "5039" "0" "5039" "0" "c.5039A>G" "r.(?)" "p.(Asn1680Ser)" "" "0000532911" "00002306" "30" "5246" "0" "5246" "0" "c.5246T>C" "r.(?)" "p.(Ile1749Thr)" "" "0000532912" "00002306" "50" "5369" "-12" "5369" "-12" "c.5369-12C>G" "r.(=)" "p.(=)" "" "0000532913" "00002306" "30" "5369" "0" "5369" "0" "c.5369T>G" "r.(?)" "p.(Val1790Gly)" "" "0000532914" "00002306" "50" "5369" "0" "5369" "0" "c.5369T>G" "r.(?)" "p.(Val1790Gly)" "" "0000532915" "00002306" "50" "5468" "0" "5468" "0" "c.5468A>T" "r.(?)" "p.(Gln1823Leu)" "" "0000532916" "00002306" "30" "5610" "0" "5610" "0" "c.5610T>C" "r.(?)" "p.(His1870=)" "" "0000532917" "00002306" "30" "5680" "0" "5680" "0" "c.5680A>G" "r.(?)" "p.(Lys1894Glu)" "" "0000532918" "00002306" "30" "5901" "0" "5901" "0" "c.5901G>A" "r.(?)" "p.(Gln1967=)" "" "0000532920" "00002306" "50" "6004" "0" "6004" "0" "c.6004A>G" "r.(?)" "p.(Met2002Val)" "" "0000532921" "00002306" "30" "6037" "0" "6037" "0" "c.6037G>A" "r.(?)" "p.(Glu2013Lys)" "" "0000532922" "00002306" "30" "6037" "0" "6037" "0" "c.6037G>A" "r.(?)" "p.(Glu2013Lys)" "" "0000532923" "00002306" "50" "6065" "0" "6065" "0" "c.6065A>G" "r.(?)" "p.(Gln2022Arg)" "" "0000532924" "00002306" "30" "6176" "0" "6176" "0" "c.6176A>G" "r.(?)" "p.(Glu2059Gly)" "" "0000532925" "00002306" "30" "6176" "0" "6176" "0" "c.6176A>G" "r.(?)" "p.(Glu2059Gly)" "" "0000532926" "00002306" "10" "6249" "0" "6249" "0" "c.6249C>T" "r.(?)" "p.(Phe2083=)" "" "0000532927" "00002306" "30" "6508" "-20" "6508" "-20" "c.6508-20A>T" "r.(=)" "p.(=)" "" "0000532928" "00002306" "30" "6860" "0" "6860" "0" "c.6860T>A" "r.(?)" "p.(Ile2287Lys)" "" "0000532929" "00002306" "30" "6896" "0" "6896" "0" "c.6896A>G" "r.(?)" "p.(Glu2299Gly)" "" "0000532930" "00002306" "30" "6920" "0" "6920" "0" "c.6920A>G" "r.(?)" "p.(Gln2307Arg)" "" "0000532931" "00002306" "10" "6921" "0" "6921" "0" "c.6921A>G" "r.(?)" "p.(Gln2307=)" "" "0000532932" "00002306" "10" "6945" "8" "6945" "8" "c.6945+8C>T" "r.(=)" "p.(=)" "" "0000532933" "00002306" "30" "7023" "0" "7023" "0" "c.7023G>A" "r.(?)" "p.(Val2341=)" "" "0000532934" "00002306" "30" "7190" "0" "7190" "0" "c.7190C>G" "r.(?)" "p.(Ala2397Gly)" "" "0000532935" "00002306" "10" "7275" "0" "7275" "0" "c.7275G>A" "r.(?)" "p.(Gln2425=)" "" "0000532936" "00002306" "10" "7275" "0" "7275" "0" "c.7275G>A" "r.(?)" "p.(Gln2425=)" "" "0000532937" "00002306" "30" "7488" "0" "7488" "0" "c.7488T>G" "r.(?)" "p.(Asn2496Lys)" "" "0000532938" "00002306" "50" "7638" "0" "7638" "0" "c.7638A>G" "r.(?)" "p.(Ile2546Met)" "" "0000532939" "00002306" "50" "8276" "0" "8276" "0" "c.8276A>G" "r.(?)" "p.(Gln2759Arg)" "" "0000532940" "00002306" "30" "8286" "0" "8286" "0" "c.8286A>C" "r.(?)" "p.(Lys2762Asn)" "" "0000532941" "00002306" "10" "8375" "0" "8375" "0" "c.8375A>G" "r.(?)" "p.(Asn2792Ser)" "" "0000532942" "00002306" "10" "8375" "0" "8375" "0" "c.8375A>G" "r.(?)" "p.(Asn2792Ser)" "" "0000532943" "00002306" "10" "8610" "0" "8610" "0" "c.8610C>T" "r.(?)" "p.(Thr2870=)" "" "0000532944" "00002306" "10" "8646" "47" "8646" "47" "c.8646+47del" "r.(=)" "p.(=)" "" "0000532945" "00002306" "30" "8656" "0" "8656" "0" "c.8656A>G" "r.(?)" "p.(Ile2886Val)" "" "0000532946" "00002306" "30" "8750" "0" "8750" "0" "c.8750A>G" "r.(?)" "p.(His2917Arg)" "" "0000532947" "00002306" "50" "8763" "0" "8763" "0" "c.8763T>C" "r.(?)" "p.(Phe2921=)" "" "0000532948" "00002306" "50" "8818" "0" "8818" "0" "c.8818C>T" "r.(?)" "p.(Pro2940Ser)" "" "0000532949" "00002306" "30" "9024" "6" "9024" "6" "c.9024+6C>A" "r.(=)" "p.(=)" "" "0000532950" "00002306" "30" "9032" "0" "9032" "0" "c.9032A>G" "r.(?)" "p.(Asp3011Gly)" "" "0000532951" "00002306" "50" "9053" "0" "9053" "0" "c.9053G>A" "r.(?)" "p.(Ser3018Asn)" "" "0000532952" "00002306" "50" "9359" "-12" "9359" "-12" "c.9359-12T>A" "r.(=)" "p.(=)" "" "0000532953" "00002306" "30" "9602" "0" "9602" "0" "c.9602A>T" "r.(?)" "p.(Asp3201Val)" "" "0000532954" "00002306" "10" "9648" "0" "9648" "0" "c.9648A>G" "r.(?)" "p.(Lys3216=)" "" "0000532955" "00002306" "30" "10118" "0" "10118" "0" "c.10118C>A" "r.(?)" "p.(Ser3373Tyr)" "" "0000532956" "00002306" "10" "10197" "0" "10197" "0" "c.10197T>C" "r.(?)" "p.(Thr3399=)" "" "0000532957" "00002306" "50" "10229" "0" "10229" "0" "c.10229C>T" "r.(?)" "p.(Ser3410Phe)" "" "0000532959" "00002306" "30" "10254" "0" "10254" "0" "c.10254G>C" "r.(?)" "p.(Gln3418His)" "" "0000532960" "00002306" "30" "10459" "0" "10459" "0" "c.10459G>A" "r.(?)" "p.(Glu3487Lys)" "" "0000532961" "00002306" "30" "10664" "0" "10664" "0" "c.10664A>T" "r.(?)" "p.(Asp3555Val)" "" "0000532963" "00002306" "30" "10664" "0" "10664" "0" "c.10664A>T" "r.(?)" "p.(Asp3555Val)" "" "0000532964" "00002306" "30" "10672" "0" "10672" "0" "c.10672A>G" "r.(?)" "p.(Ile3558Val)" "" "0000532965" "00002306" "30" "10767" "0" "10767" "0" "c.10767G>A" "r.(?)" "p.(Leu3589=)" "" "0000532966" "00002306" "10" "10858" "0" "10858" "0" "c.10858A>G" "r.(?)" "p.(Ile3620Val)" "" "0000532967" "00002306" "50" "11010" "0" "11010" "0" "c.11010G>C" "r.(?)" "p.(Glu3670Asp)" "" "0000532968" "00002306" "10" "11098" "-13" "11098" "-13" "c.11098-13T>G" "r.(=)" "p.(=)" "" "0000532969" "00002306" "50" "11189" "0" "11189" "0" "c.11189A>G" "r.(?)" "p.(Gln3730Arg)" "" "0000532970" "00002306" "50" "11229" "0" "11229" "0" "c.11229G>C" "r.(?)" "p.(Met3743Ile)" "" "0000532971" "00002306" "30" "11229" "0" "11229" "0" "c.11229G>T" "r.(?)" "p.(Met3743Ile)" "" "0000532972" "00002306" "10" "11273" "0" "11273" "0" "c.11273G>A" "r.(?)" "p.(Arg3758His)" "" "0000532973" "00002306" "30" "11291" "0" "11291" "0" "c.11291G>A" "r.(?)" "p.(Arg3764Lys)" "" "0000532974" "00002306" "50" "11519" "0" "11519" "0" "c.11519T>C" "r.(?)" "p.(Ile3840Thr)" "" "0000532975" "00002306" "30" "11519" "0" "11519" "0" "c.11519T>C" "r.(?)" "p.(Ile3840Thr)" "" "0000611244" "00002306" "30" "48" "19" "48" "19" "c.48+19A>G" "r.(=)" "p.(=)" "" "0000611245" "00002306" "50" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Lys46Glu)" "" "0000611246" "00002306" "30" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(His53Arg)" "" "0000611247" "00002306" "30" "307" "-7" "307" "-7" "c.307-7G>T" "r.(=)" "p.(=)" "" "0000611248" "00002306" "30" "753" "0" "753" "0" "c.753G>A" "r.(?)" "p.(Leu251=)" "" "0000611249" "00002306" "50" "1434" "0" "1434" "0" "c.1434T>C" "r.(?)" "p.(Tyr478=)" "" "0000611250" "00002306" "30" "1890" "0" "1890" "0" "c.1890A>G" "r.(?)" "p.(Leu630=)" "" "0000611251" "00002306" "50" "2113" "0" "2113" "0" "c.2113T>G" "r.(?)" "p.(Leu705Val)" "" "0000611252" "00002306" "30" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Ala771Thr)" "" "0000611253" "00002306" "30" "2554" "0" "2554" "0" "c.2554T>C" "r.(?)" "p.(Phe852Leu)" "" "0000611254" "00002306" "30" "2559" "0" "2559" "0" "c.2559T>C" "r.(?)" "p.(Ala853=)" "" "0000611255" "00002306" "30" "2792" "0" "2792" "0" "c.2792G>A" "r.(?)" "p.(Gly931Asp)" "" "0000611256" "00002306" "30" "3066" "0" "3066" "0" "c.3066A>G" "r.(?)" "p.(Gly1022=)" "" "0000611257" "00002306" "30" "3223" "0" "3223" "0" "c.3223T>C" "r.(?)" "p.(Leu1075=)" "" "0000611258" "00002306" "30" "3223" "0" "3223" "0" "c.3223T>C" "r.(?)" "p.(Leu1075=)" "" "0000611259" "00002306" "30" "3580" "0" "3580" "0" "c.3580G>A" "r.(?)" "p.(Ala1194Thr)" "" "0000611260" "00002306" "30" "3625" "0" "3625" "0" "c.3625G>A" "r.(?)" "p.(Val1209Ile)" "" "0000611261" "00002306" "10" "3827" "0" "3827" "0" "c.3827G>A" "r.(?)" "p.(Arg1276Gln)" "" "0000611262" "00002306" "30" "4800" "0" "4800" "0" "c.4800A>G" "r.(?)" "p.(Glu1600=)" "" "0000611263" "00002306" "50" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(Arg1614Trp)" "" "0000611264" "00002306" "50" "4847" "0" "4862" "0" "c.4847_4862del" "r.(?)" "p.(Met1616LysfsTer17)" "" "0000611265" "00002306" "50" "4847" "0" "4873" "0" "c.4847_4873delinsAGA" "r.(?)" "p.(Met1616_Gln1625delinsLysLys)" "" "0000611266" "00002306" "50" "4866" "0" "4873" "0" "c.4866_4873del" "r.(?)" "p.(Asp1622GlufsTer7)" "" "0000611267" "00002306" "30" "5565" "0" "5565" "0" "c.5565A>G" "r.(?)" "p.(Glu1855=)" "" "0000611268" "00002306" "50" "5639" "0" "5639" "0" "c.5639G>A" "r.(?)" "p.(Arg1880His)" "" "0000611269" "00002306" "30" "5680" "0" "5680" "0" "c.5680A>G" "r.(?)" "p.(Lys1894Glu)" "" "0000611270" "00002306" "30" "5765" "-20" "5765" "-20" "c.5765-20C>G" "r.(=)" "p.(=)" "" "0000611271" "00002306" "30" "5928" "0" "5928" "0" "c.5928G>A" "r.(?)" "p.(Leu1976=)" "" "0000611272" "00002306" "10" "5978" "-4" "5978" "-4" "c.5978-4A>G" "r.spl?" "p.?" "" "0000611273" "00002306" "30" "6171" "0" "6171" "0" "c.6171A>T" "r.(?)" "p.(Ala2057=)" "" "0000611274" "00002306" "50" "6188" "0" "6188" "0" "c.6188A>G" "r.(?)" "p.(Glu2063Gly)" "" "0000611275" "00002306" "10" "6211" "-15" "6211" "-15" "c.6211-15G>A" "r.(=)" "p.(=)" "" "0000611276" "00002306" "10" "6249" "0" "6249" "0" "c.6249C>T" "r.(?)" "p.(Phe2083=)" "" "0000611277" "00002306" "10" "6556" "0" "6556" "0" "c.6556T>C" "r.(?)" "p.(Ser2186Pro)" "" "0000611278" "00002306" "30" "7204" "0" "7204" "0" "c.7204G>A" "r.(?)" "p.(Val2402Ile)" "" "0000611279" "00002306" "30" "7504" "0" "7504" "0" "c.7504C>T" "r.(?)" "p.(Leu2502=)" "" "0000611280" "00002306" "50" "7931" "0" "7931" "0" "c.7931T>C" "r.(?)" "p.(Leu2644Pro)" "" "0000611281" "00002306" "30" "8646" "20" "8646" "20" "c.8646+20T>C" "r.(=)" "p.(=)" "" "0000611282" "00002306" "30" "9072" "0" "9072" "0" "c.9072T>G" "r.(?)" "p.(Gly3024=)" "" "0000611283" "00002306" "10" "9092" "0" "9092" "0" "c.9092A>G" "r.(?)" "p.(Gln3031Arg)" "" "0000611284" "00002306" "30" "9230" "0" "9230" "0" "c.9230C>T" "r.(?)" "p.(Ala3077Val)" "" "0000611285" "00002306" "50" "9536" "0" "9536" "0" "c.9536T>A" "r.(?)" "p.(Leu3179His)" "" "0000611287" "00002306" "30" "9537" "0" "9537" "0" "c.9537C>G" "r.(?)" "p.(Leu3179=)" "" "0000611288" "00002306" "30" "9689" "0" "9689" "0" "c.9689A>G" "r.(?)" "p.(Lys3230Arg)" "" "0000611289" "00002306" "50" "10227" "0" "10227" "0" "c.10227G>A" "r.(?)" "p.(Gln3409=)" "" "0000611290" "00002306" "50" "10250" "0" "10250" "0" "c.10250G>A" "r.(?)" "p.(Arg3417His)" "" "0000611291" "00002306" "50" "10399" "0" "10399" "0" "c.10399C>A" "r.(?)" "p.(Pro3467Thr)" "" "0000611292" "00002306" "30" "11229" "0" "11229" "0" "c.11229G>A" "r.(?)" "p.(Met3743Ile)" "" "0000621935" "00002306" "50" "452" "0" "452" "0" "c.452A>C" "r.(?)" "p.(Gln151Pro)" "" "0000621936" "00002306" "10" "732" "15" "732" "15" "c.732+15T>C" "r.(=)" "p.(=)" "" "0000621937" "00002306" "30" "2425" "0" "2425" "0" "c.2425A>G" "r.(?)" "p.(Ile809Val)" "" "0000621938" "00002306" "30" "4985" "0" "4985" "0" "c.4985C>T" "r.(?)" "p.(Ala1662Val)" "" "0000621939" "00002306" "50" "5251" "0" "5251" "0" "c.5251C>T" "r.(?)" "p.(Arg1751Cys)" "" "0000621940" "00002306" "50" "5528" "0" "5528" "0" "c.5528T>A" "r.(?)" "p.(Met1843Lys)" "" "0000621941" "00002306" "50" "6047" "0" "6047" "0" "c.6047G>A" "r.(?)" "p.(Arg2016His)" "" "0000621942" "00002306" "30" "11225" "0" "11225" "0" "c.11225G>C" "r.(?)" "p.(Arg3742Pro)" "" "0000652365" "00002306" "30" "80" "0" "80" "0" "c.80C>T" "r.(?)" "p.(Ser27Leu)" "" "0000652366" "00002306" "50" "3430" "0" "3430" "0" "c.3430T>C" "r.(?)" "p.(Cys1144Arg)" "" "0000652367" "00002306" "50" "5246" "0" "5246" "0" "c.5246T>C" "r.(?)" "p.(Ile1749Thr)" "" "0000652368" "00002306" "50" "10664" "0" "10664" "0" "c.10664A>T" "r.(?)" "p.(Asp3555Val)" "" "0000652369" "00002306" "30" "10840" "0" "10840" "0" "c.10840A>G" "r.(?)" "p.(Met3614Val)" "" "0000652370" "00002306" "30" "11135" "0" "11135" "0" "c.11135G>A" "r.(?)" "p.(Arg3712Gln)" "" "0000653181" "00002306" "50" "11229" "0" "11229" "0" "c.11229G>T" "r.(?)" "p.(Met3743Ile)" "" "0000655900" "00002306" "30" "510" "0" "510" "0" "c.510G>C" "r.(?)" "p.(Glu170Asp)" "" "0000655901" "00002306" "10" "3953" "-15" "3953" "-15" "c.3953-15C>T" "r.(=)" "p.(=)" "" "0000655902" "00002306" "50" "7096" "0" "7096" "0" "c.7096A>G" "r.(?)" "p.(Ile2366Val)" "" "0000655903" "00002306" "30" "10664" "0" "10664" "0" "c.10664A>T" "r.(?)" "p.(Asp3555Val)" "" "0000660250" "00002306" "50" "11231" "0" "11231" "0" "c.11231G>A" "r.(?)" "p.(Gly3744Glu)" "" "0000678193" "00002306" "30" "441" "0" "441" "0" "c.441A>G" "r.(?)" "p.(Glu147=)" "" "0000678194" "00002306" "30" "931" "-8" "931" "-8" "c.931-8dup" "r.(=)" "p.(=)" "" "0000678195" "00002306" "50" "1457" "0" "1457" "0" "c.1457A>T" "r.(?)" "p.(Asp486Val)" "" "0000678196" "00002306" "50" "1651" "0" "1651" "0" "c.1651A>G" "r.(?)" "p.(Ile551Val)" "" "0000678197" "00002306" "30" "2589" "0" "2589" "0" "c.2589G>A" "r.(?)" "p.(Glu863=)" "" "0000678198" "00002306" "30" "3071" "0" "3071" "0" "c.3071T>G" "r.(?)" "p.(Val1024Gly)" "" "0000678199" "00002306" "50" "4149" "-1" "4149" "-1" "c.4149-1G>T" "r.spl?" "p.?" "" "0000678200" "00002306" "10" "4246" "-6" "4246" "-6" "c.4246-6A>T" "r.(=)" "p.(=)" "" "0000678201" "00002306" "30" "4629" "0" "4629" "0" "c.4629C>A" "r.(?)" "p.(Asp1543Glu)" "" "0000678202" "00002306" "50" "4826" "0" "4826" "0" "c.4826G>A" "r.(?)" "p.(Arg1609Lys)" "" "0000678203" "00002306" "50" "4937" "0" "4937" "0" "c.4937A>G" "r.(?)" "p.(Glu1646Gly)" "" "0000678204" "00002306" "30" "6249" "0" "6249" "0" "c.6249C>T" "r.(?)" "p.(Phe2083=)" "" "0000678205" "00002306" "30" "6533" "0" "6533" "0" "c.6533C>T" "r.(?)" "p.(Ala2178Val)" "" "0000678206" "00002306" "30" "7314" "0" "7314" "0" "c.7314A>T" "r.(?)" "p.(Glu2438Asp)" "" "0000678207" "00002306" "50" "8750" "0" "8750" "0" "c.8750A>G" "r.(?)" "p.(His2917Arg)" "" "0000678208" "00002306" "30" "8784" "0" "8784" "0" "c.8784A>C" "r.(?)" "p.(Arg2928=)" "" "0000678209" "00002306" "30" "9969" "0" "9969" "0" "c.9969C>T" "r.(?)" "p.(His3323=)" "" "0000678210" "00002306" "30" "10118" "0" "10118" "0" "c.10118C>A" "r.(?)" "p.(Ser3373Tyr)" "" "0000678211" "00002306" "30" "10173" "0" "10173" "0" "c.10173G>A" "r.(?)" "p.(Leu3391=)" "" "0000690090" "00002306" "10" "1372" "0" "1372" "0" "c.1372G>C" "r.(?)" "p.(Ala458Pro)" "" "0000690091" "00002306" "50" "9004" "0" "9004" "0" "c.9004C>G" "r.(?)" "p.(Gln3002Glu)" "" "0000714882" "00002306" "50" "7096" "0" "7096" "0" "c.7096A>G" "r.(?)" "p.(Ile2366Val)" "" "0000721581" "00002306" "30" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Val367Met)" "" "0000721582" "00002306" "10" "1536" "0" "1536" "0" "c.1536C>T" "r.(?)" "p.(Leu512=)" "" "0000721583" "00002306" "10" "2475" "0" "2475" "0" "c.2475T>G" "r.(?)" "p.(Leu825=)" "" "0000721584" "00002306" "50" "2512" "0" "2512" "0" "c.2512C>G" "r.(?)" "p.(Gln838Glu)" "" "0000721585" "00002306" "10" "2865" "0" "2865" "0" "c.2865G>A" "r.(?)" "p.(Leu955=)" "" "0000721586" "00002306" "50" "5369" "-3" "5369" "-3" "c.5369-3T>C" "r.spl?" "p.?" "" "0000721587" "00002306" "50" "9532" "0" "9532" "0" "c.9532A>G" "r.(?)" "p.(Thr3178Ala)" "" "0000803273" "00002306" "30" "1685" "0" "1685" "0" "c.1685A>G" "r.(?)" "p.(His562Arg)" "" "0000803274" "00002306" "10" "2058" "0" "2058" "0" "c.2058C>T" "r.(?)" "p.(Asp686=)" "" "0000803275" "00002306" "30" "7788" "0" "7788" "0" "c.7788G>A" "r.(?)" "p.(Glu2596=)" "" "0000803276" "00002306" "30" "8747" "0" "8747" "0" "c.8747C>A" "r.(?)" "p.(Thr2916Lys)" "" "0000803277" "00002306" "30" "9358" "11" "9358" "11" "c.9358+11T>C" "r.(=)" "p.(=)" "" "0000803278" "00002306" "50" "11645" "0" "11645" "0" "c.11645G>A" "r.(?)" "p.(Arg3882Gln)" "" "0000803279" "00002306" "50" "11682" "0" "11682" "0" "c.11682G>T" "r.(?)" "p.(Gln3894His)" "" "0000851684" "00002306" "10" "54" "0" "54" "0" "c.54C>A" "r.(?)" "p.(Ala18=)" "" "0000851685" "00002306" "30" "1397" "0" "1397" "0" "c.1397G>A" "r.(?)" "p.(Arg466Gln)" "" "0000851686" "00002306" "30" "3535" "0" "3535" "0" "c.3535G>A" "r.(?)" "p.(Asp1179Asn)" "" "0000851687" "00002306" "30" "3803" "0" "3803" "0" "c.3803A>G" "r.(?)" "p.(Asn1268Ser)" "" "0000851688" "00002306" "50" "4259" "0" "4259" "0" "c.4259T>G" "r.(?)" "p.(Phe1420Cys)" "" "0000851689" "00002306" "30" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(Arg1614Trp)" "" "0000851690" "00002306" "30" "4872" "0" "4872" "0" "c.4872A>G" "r.(?)" "p.(Glu1624=)" "" "0000851691" "00002306" "30" "4872" "0" "4872" "0" "c.4872A>G" "r.(?)" "p.(Glu1624=)" "" "0000851692" "00002306" "50" "5546" "0" "5546" "0" "c.5546G>A" "r.(?)" "p.(Arg1849Gln)" "" "0000851693" "00002306" "50" "6063" "0" "6064" "0" "c.6063_6064insG" "r.(?)" "p.(Gln2022Alafs*15)" "" "0000851694" "00002306" "30" "6176" "0" "6176" "0" "c.6176A>G" "r.(?)" "p.(Glu2059Gly)" "" "0000851695" "00002306" "50" "6765" "8" "6765" "11" "c.6765+8_6765+11del" "r.(=)" "p.(=)" "" "0000851696" "00002306" "10" "6765" "88" "6765" "88" "c.6765+88dup" "r.(=)" "p.(=)" "" "0000851697" "00002306" "30" "7444" "0" "7444" "0" "c.7444T>C" "r.(?)" "p.(Tyr2482His)" "" "0000851698" "00002306" "30" "7488" "0" "7488" "0" "c.7488T>G" "r.(?)" "p.(Asn2496Lys)" "" "0000851699" "00002306" "30" "7775" "0" "7775" "0" "c.7775T>A" "r.(?)" "p.(Leu2592Gln)" "" "0000851701" "00002306" "30" "8362" "0" "8362" "0" "c.8362A>T" "r.(?)" "p.(Ile2788Phe)" "" "0000851702" "00002306" "30" "8646" "47" "8646" "47" "c.8646+47dup" "r.(=)" "p.(=)" "" "0000851703" "00002306" "30" "9366" "0" "9366" "0" "c.9366G>A" "r.(?)" "p.(Leu3122=)" "" "0000851704" "00002306" "30" "10118" "0" "10118" "0" "c.10118C>A" "r.(?)" "p.(Ser3373Tyr)" "" "0000851705" "00002306" "30" "11714" "0" "11714" "0" "c.11714T>C" "r.(?)" "p.(Met3905Thr)" "" "0000860937" "00002306" "10" "948" "0" "948" "0" "c.948A>G" "r.(?)" "p.(Val316=)" "" "0000860938" "00002306" "50" "3401" "0" "3401" "0" "c.3401A>G" "r.(?)" "p.(Tyr1134Cys)" "" "0000860939" "00002306" "50" "3405" "0" "3405" "0" "c.3405G>A" "r.(?)" "p.(Met1135Ile)" "" "0000860940" "00002306" "50" "3793" "0" "3793" "0" "c.3793G>A" "r.(?)" "p.(Glu1265Lys)" "" "0000860941" "00002306" "30" "4190" "0" "4190" "0" "c.4190A>G" "r.(?)" "p.(Gln1397Arg)" "" "0000860942" "00002306" "50" "4456" "0" "4456" "0" "c.4456C>T" "r.(?)" "p.(His1486Tyr)" "" "0000860943" "00002306" "50" "4837" "0" "4837" "0" "c.4837A>G" "r.(?)" "p.(Met1613Val)" "" "0000860944" "00002306" "50" "4962" "0" "4962" "0" "c.4962G>C" "r.(?)" "p.(Arg1654Ser)" "" "0000860945" "00002306" "30" "8750" "0" "8750" "0" "c.8750A>G" "r.(?)" "p.(His2917Arg)" "" "0000860946" "00002306" "50" "9697" "0" "9697" "0" "c.9697C>T" "r.(?)" "p.(Arg3233Cys)" "" "0000860947" "00002306" "50" "11021" "0" "11021" "0" "c.11021A>G" "r.(?)" "p.(Tyr3674Cys)" "" "0000877443" "00002306" "90" "7252" "0" "7255" "0" "c.7252_7255del" "r.(?)" "p.(Glu2418Profs*5)" "" "0000887999" "00002306" "50" "205" "0" "205" "0" "c.205A>G" "r.(?)" "p.(Ser69Gly)" "" "0000888000" "00002306" "50" "289" "0" "289" "0" "c.289C>G" "r.(?)" "p.(Gln97Glu)" "" "0000888001" "00002306" "50" "1259" "0" "1259" "0" "c.1259A>G" "r.(?)" "p.(Gln420Arg)" "" "0000888002" "00002306" "50" "1262" "0" "1262" "0" "c.1262G>A" "r.(?)" "p.(Arg421Gln)" "" "0000888003" "00002306" "30" "1508" "0" "1508" "0" "c.1508A>G" "r.(?)" "p.(Gln503Arg)" "" "0000888004" "00002306" "50" "3425" "0" "3425" "0" "c.3425C>T" "r.(?)" "p.(Ala1142Val)" "" "0000888005" "00002306" "10" "4800" "0" "4800" "0" "c.4800A>G" "r.(?)" "p.(Glu1600=)" "" "0000888006" "00002306" "10" "6134" "0" "6134" "0" "c.6134A>G" "r.(?)" "p.(Asn2045Ser)" "" "0000888007" "00002306" "10" "7074" "0" "7074" "0" "c.7074A>G" "r.(?)" "p.(Lys2358=)" "" "0000888008" "00002306" "30" "8646" "32" "8646" "32" "c.8646+32C>T" "r.(=)" "p.(=)" "" "0000888009" "00002306" "10" "10221" "0" "10221" "0" "c.10221G>A" "r.(?)" "p.(Glu3407=)" "" "0000888011" "00002306" "50" "11230" "0" "11230" "0" "c.11230G>T" "r.(?)" "p.(Gly3744Trp)" "" "0000888012" "00002306" "10" "11235" "0" "11235" "0" "c.11235G>C" "r.(?)" "p.(Gly3745=)" "" "0000888013" "00002306" "30" "11362" "0" "11362" "0" "c.11362G>C" "r.(?)" "p.(Val3788Leu)" "" "0000912803" "00002306" "50" "1631" "0" "1636" "0" "c.1631_1636del" "r.(?)" "p.(Ile544_Gln545del)" "" "0000912804" "00002306" "10" "2782" "0" "2782" "0" "c.2782T>C" "r.(?)" "p.(Leu928=)" "" "0000912805" "00002306" "30" "4148" "18" "4148" "18" "c.4148+18G>C" "r.(=)" "p.(=)" "" "0000912806" "00002306" "10" "4339" "-41" "4339" "-41" "c.4339-41T>G" "r.(=)" "p.(=)" "" "0000912807" "00002306" "10" "4693" "-11" "4693" "-11" "c.4693-11del" "r.(=)" "p.(=)" "" "0000912808" "00002306" "50" "5528" "0" "5528" "0" "c.5528T>A" "r.(?)" "p.(Met1843Lys)" "" "0000912809" "00002306" "30" "7357" "0" "7357" "0" "c.7357G>A" "r.(?)" "p.(Val2453Met)" "" "0000912810" "00002306" "10" "8020" "-45" "8020" "-45" "c.8020-45A>G" "r.(=)" "p.(=)" "" "0000912811" "00002306" "10" "8646" "59" "8646" "59" "c.8646+59del" "r.(=)" "p.(=)" "" "0000912812" "00002306" "10" "10331" "0" "10331" "0" "c.10331A>G" "r.(?)" "p.(Gln3444Arg)" "" "0000912813" "00002306" "50" "10399" "0" "10399" "0" "c.10399C>A" "r.(?)" "p.(Pro3467Thr)" "" "0000912814" "00002306" "30" "10518" "0" "10518" "0" "c.10518C>T" "r.(?)" "p.(Thr3506=)" "" "0000912815" "00002306" "10" "10608" "-38" "10608" "-38" "c.10608-38G>A" "r.(=)" "p.(=)" "" "0000912816" "00002306" "10" "10608" "-15" "10608" "-15" "c.10608-15G>C" "r.(=)" "p.(=)" "" "0000924766" "00002306" "50" "7775" "0" "7775" "0" "c.7775T>A" "r.(?)" "p.(Leu2592Gln)" "" "0000929384" "00002306" "50" "4082" "0" "4082" "0" "c.4082A>G" "r.(?)" "p.(Tyr1361Cys)" "" "0000929385" "00002306" "10" "4842" "0" "4842" "0" "c.4842G>T" "r.(?)" "p.(=)" "" "0000929386" "00002306" "30" "5388" "0" "5388" "0" "c.5388C>G" "r.(?)" "p.(=)" "" "0000929387" "00002306" "50" "10231" "0" "10231" "0" "c.10231A>G" "r.(?)" "p.(Lys3411Glu)" "" "0000936475" "00002306" "50" "6562" "0" "6562" "0" "c.6562G>C" "r.(?)" "p.(Glu2188Gln)" "" "0000948953" "00002306" "30" "4293" "0" "4293" "0" "c.4293G>A" "r.(?)" "p.(Leu1431=)" "" "0000948954" "00002306" "30" "5978" "-4" "5978" "-4" "c.5978-4A>G" "r.spl?" "p.?" "" "0000948955" "00002306" "10" "6336" "0" "6336" "0" "c.6336A>G" "r.(?)" "p.(=)" "" "0000948956" "00002306" "50" "6505" "0" "6505" "0" "c.6505A>C" "r.(?)" "p.(Lys2169Gln)" "" "0000964696" "00002306" "30" "4342" "0" "4342" "0" "c.4342A>G" "r.(?)" "p.(Ile1448Val)" "" "0000964697" "00002306" "50" "10713" "4" "10713" "4" "c.10713+4A>G" "r.spl?" "p.?" "" "0000964698" "00002306" "10" "11273" "0" "11273" "0" "c.11273G>A" "r.(?)" "p.(Arg3758His)" "" "0000977878" "00002306" "10" "9867" "0" "9867" "0" "c.9867A>G" "r.(?)" "p.(=)" "" "0000996708" "00002306" "50" "3661" "0" "3661" "0" "c.3661G>T" "r.(?)" "p.(Glu1221*)" "" "0000996709" "00002306" "30" "7208" "0" "7208" "0" "c.7208A>G" "r.(?)" "p.(Glu2403Gly)" "" "0000996710" "00002306" "30" "11362" "0" "11362" "0" "c.11362G>C" "r.(?)" "p.(Val3788Leu)" "" "0000996711" "00002306" "30" "11547" "-6" "11547" "-6" "c.11547-6C>T" "r.(=)" "p.(=)" "" "0001014384" "00002306" "50" "743" "0" "743" "0" "c.743G>A" "r.(?)" "p.(Ser248Asn)" "" "0001014385" "00002306" "50" "2438" "0" "2438" "0" "c.2438C>T" "r.(?)" "p.(Ser813Phe)" "" "0001014386" "00002306" "50" "11291" "0" "11291" "0" "c.11291G>A" "r.(?)" "p.(Arg3764Lys)" "" "0001025434" "00002306" "30" "2743" "0" "2743" "0" "c.2743T>A" "r.(?)" "p.(Ser915Thr)" "" "0001025435" "00002306" "50" "5602" "-3004" "5602" "-3004" "c.5602-3004del" "r.(=)" "p.(=)" "" "0001025436" "00002306" "50" "10344" "0" "10344" "0" "c.10344A>T" "r.(?)" "p.(=)" "" "0001036562" "00002306" "30" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(His47Tyr)" "" "0001036563" "00002306" "50" "285" "0" "285" "0" "c.285T>A" "r.(?)" "p.(His95Gln)" "" "0001036564" "00002306" "50" "287" "0" "287" "0" "c.287A>C" "r.(?)" "p.(Glu96Ala)" "" "0001036565" "00002306" "10" "3827" "0" "3827" "0" "c.3827G>A" "r.(?)" "p.(Arg1276Gln)" "" "0001036566" "00002306" "50" "4245" "0" "4245" "0" "c.4245G>A" "r.(?)" "p.(=)" "" "0001036567" "00002306" "30" "8894" "0" "8894" "0" "c.8894A>G" "r.(?)" "p.(Tyr2965Cys)" "" "0001036568" "00002306" "10" "10840" "0" "10840" "0" "c.10840A>G" "r.(?)" "p.(Met3614Val)" "" "0001052716" "00002306" "30" "4293" "0" "4293" "0" "c.4293G>A" "r.(?)" "p.(Leu1431=)" "" "0001064745" "00002306" "50" "5978" "-3" "5978" "-3" "c.5978-3C>G" "r.spl?" "p.?" "" "0001064746" "00002306" "30" "8656" "0" "8656" "0" "c.8656A>G" "r.(?)" "p.(Ile2886Val)" "" "0001064747" "00002306" "50" "10231" "0" "10231" "0" "c.10231A>G" "r.(?)" "p.(Lys3411Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000029018" "0000052355" "0000029023" "0000052363" "0000029023" "0000052364" "0000029024" "0000052365" "0000039631" "0000067233" "0000064908" "0000096563" "0000064910" "0000096565" "0000065287" "0000096960" "0000104203" "0000168860" "0000128826" "0000217956" "0000129246" "0000218391" "0000129255" "0000218400" "0000182164" "0000406038" "0000295676" "0000652365" "0000295677" "0000652366" "0000295678" "0000652367" "0000295679" "0000652368" "0000295680" "0000652369" "0000295681" "0000652370" "0000296492" "0000653181" "0000297644" "0000660250" "0000330312" "0000714882" "0000417720" "0000877443" "0000440181" "0000936475"